Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SCNN1D 6339 broad.mit.edu 37 1 1225343 1225343 + Intron SNP G A A 2011-2255:2012-373-T g.chr1:1225343G>A uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 NBPF1 55672 broad.mit.edu 37 1 16918543 16918543 + 5'UTR SNP A G G 2011-2255:2012-373-T g.chr1:16918543A>G uc009vos.1 - 7 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 HIVEP3 59269 broad.mit.edu 37 1 42010522 42010522 + Intron SNP A T T 2011-2255:2012-373-T g.chr1:42010522A>T uc001cgz.3 - HIVEP3_uc001cha.3_Intron|HIVEP3_uc001cgy.2_Intron NM_024503 NP_078779 HIVEP3 59269 broad.mit.edu 37 1 42010524 42010524 + Intron SNP C T T 2011-2255:2012-373-T g.chr1:42010524C>T uc001cgz.3 - HIVEP3_uc001cha.3_Intron|HIVEP3_uc001cgy.2_Intron NM_024503 NP_078779 SMYD3 64754 broad.mit.edu 37 1 246140283 246140283 + Intron SNP C T T 2011-2255:2012-373-T g.chr1:246140283C>T uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 CCDC6 8030 broad.mit.edu 37 10 61642188 61642188 + Intron SNP G C C 2011-2255:2012-373-T g.chr10:61642188G>C uc001jks.3 - NM_005436 NP_005427 MTA2 9219 broad.mit.edu 37 11 62365665 62365665 + Intron SNP G A A rs2849031 by1000genomes 2011-2255:2012-373-T g.chr11:62365665G>A uc001ntq.1 - MTA2_uc010rlx.1_Intron NM_004739 NP_004730 B4GALNT3 283358 broad.mit.edu 37 12 621317 621317 + Intron SNP G A A rs148130103 by1000genomes 2011-2255:2012-373-T g.chr12:621317G>A uc001qii.1 + NM_173593 NP_775864 SLC7A1 6541 broad.mit.edu 37 13 30133456 30133456 + Intron SNP A T T 2011-2255:2012-373-T g.chr13:30133456A>T uc001uso.2 - NM_003045 NP_003036 COL4A2 1284 broad.mit.edu 37 13 111038374 111038374 + Intron SNP T C C rs80281875 by1000genomes 2011-2255:2012-373-T g.chr13:111038374T>C uc001vqx.2 + NM_001846 NP_001837 F7 2155 broad.mit.edu 37 13 113762033 113762033 + Intron SNP G A A 2011-2255:2012-373-T g.chr13:113762033G>A uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 F7 2155 broad.mit.edu 37 13 113762077 113762077 + Intron SNP C G G 2011-2255:2012-373-T g.chr13:113762077C>G uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 SERPINA12 145264 broad.mit.edu 37 14 94986049 94986049 + 5'Flank SNP A G G 2011-2255:2012-373-T g.chr14:94986049A>G uc001ydj.2 - NM_173850 NP_776249 LMF1 64788 broad.mit.edu 37 16 998761 998761 + Intron SNP C T T 2011-2255:2012-373-T g.chr16:998761C>T uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 RPH3AL 9501 broad.mit.edu 37 17 164491 164491 + Intron SNP G T T 2011-2255:2012-373-T g.chr17:164491G>T uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 P2RX5 5026 broad.mit.edu 37 17 3583693 3583693 + Intron SNP A G G rs145451602 by1000genomes 2011-2255:2012-373-T g.chr17:3583693A>G uc002fwi.2 - P2RX5_uc002fwd.2_Intron|P2RX5_uc002fwh.1_Intron|P2RX5_uc010vrx.1_Intron|P2RX5_uc002fwj.2_Intron|P2RX5_uc002fwk.2_Intron|P2RX5_uc002fwl.2_Intron NM_002561 NP_002552 GAS7 8522 broad.mit.edu 37 17 9940524 9940524 + Intron SNP G A A 2011-2255:2012-373-T g.chr17:9940524G>A uc002gmg.1 - GAS7_uc002gmj.1_5'Flank|GAS7_uc010coh.1_Intron NM_201433 NP_958839 TBC1D3 729873 broad.mit.edu 37 17 36349314 36349314 + Intron SNP G A A rs62072924 2011-2255:2012-373-T g.chr17:36349314G>A uc002hpr.2 - TBC1D3_uc010wdl.1_5'Flank|TBC1D3_uc002hox.2_5'Flank|TBC1D3_uc010wdm.1_5'Flank|TBC1D3_uc002hpq.2_5'Flank|TBC1D3_uc010cvj.1_5'Flank|TBC1D3_uc010cvk.2_Intron|TBC1D3_uc002hpp.2_5'Flank|TBC1D3_uc010wdn.1_Intron NM_001123391 NP_001116863 ERBB2 2064 broad.mit.edu 37 17 37844488 37844488 + 5'UTR SNP G T T 2011-2255:2012-373-T g.chr17:37844488G>T uc010cwa.2 + 1 ERBB2_uc002hsm.2_5'UTR|PGAP3_uc002hsj.2_5'Flank|PGAP3_uc010wej.1_5'Flank|PGAP3_uc002hsk.2_5'Flank|PGAP3_uc010cvz.2_5'Flank|ERBB2_uc002hsl.2_5'UTR NM_001005862 NP_001005862 RMND5A 64795 broad.mit.edu 37 2 87641795 87641795 + Intron SNP C G G 2011-2255:2012-373-T g.chr2:87641795C>G uc002srs.3 + TTN 7273 broad.mit.edu 37 2 179415741 179415741 + Missense_Mutation SNP C A A 2011-2255:2012-373-T g.chr2:179415741C>A uc010zfg.1 - 285 84037 c.83813G>T c.(83812-83814)AGC>ATC p.S27938I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S21633I|TTN_uc010zfi.1_Missense_Mutation_p.S21566I|TTN_uc010zfj.1_Missense_Mutation_p.S21441I NM_133378 NP_596869 TRPM2 7226 broad.mit.edu 37 21 45815817 45815817 + Intron SNP A G G 2011-2255:2012-373-T g.chr21:45815817A>G uc002zet.1 + TRPM2_uc002zeu.1_Intron|TRPM2_uc002zew.1_Intron|TRPM2_uc010gpt.1_Intron|TRPM2_uc002zex.1_Intron|TRPM2_uc002zey.1_Intron NM_003307 NP_003298 CHCHD6 84303 broad.mit.edu 37 3 126581313 126581313 + Intron SNP C T T 2011-2255:2012-373-T g.chr3:126581313C>T uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 GAK 2580 broad.mit.edu 37 4 907766 907766 + Intron SNP A C C 2011-2255:2012-373-T g.chr4:907766A>C uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_Intron|GAK_uc003gbl.3_5'Flank NM_005255 NP_005246 RASGEF1C 255426 broad.mit.edu 37 5 179540685 179540685 + Intron SNP T C C 2011-2255:2012-373-T g.chr5:179540685T>C uc003mlq.2 - RASGEF1C_uc003mlr.2_Intron|RASGEF1C_uc003mlp.3_Intron NM_175062 NP_778232 RASGEF1C 255426 broad.mit.edu 37 5 179540715 179540715 + Intron SNP T C C 2011-2255:2012-373-T g.chr5:179540715T>C uc003mlq.2 - RASGEF1C_uc003mlr.2_Intron|RASGEF1C_uc003mlp.3_Intron NM_175062 NP_778232 VARS 7407 broad.mit.edu 37 6 31748777 31748777 + Intron SNP G A A 2011-2255:2012-373-T g.chr6:31748777G>A uc003nxe.2 - VARS_uc003nxf.1_5'Flank NM_006295 NP_006286 MTHFD1L 25902 broad.mit.edu 37 6 151412082 151412082 + Intron SNP T C C 2011-2255:2012-373-T g.chr6:151412082T>C uc003qob.2 + MTHFD1L_uc011een.1_Intron|MTHFD1L_uc011eeo.1_Intron|MTHFD1L_uc003qoc.2_Intron NM_015440 NP_056255 PARK2 5071 broad.mit.edu 37 6 162067396 162067396 + Intron SNP G A A 2011-2255:2012-373-T g.chr6:162067396G>A uc003qtx.3 - PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Intron|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Intron|PARK2_uc011egf.1_Intron NM_004562 NP_004553 PARK2 5071 broad.mit.edu 37 6 162622248 162622248 + Missense_Mutation SNP C A A 2011-2255:2012-373-T g.chr6:162622248C>A uc003qtx.3 - 4 583 c.449G>T c.(448-450)TGC>TTC p.C150F PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_5'UTR|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Missense_Mutation_p.C150F|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Missense_Mutation_p.C150F NM_004562 NP_004553 PKD1L1 168507 broad.mit.edu 37 7 47906091 47906091 + Missense_Mutation SNP C A A 2011-2255:2012-373-T g.chr7:47906091C>A uc003tny.1 - 25 4018 c.4018G>T c.(4018-4020)GCC>TCC p.A1340S NM_138295 NP_612152 PTPRN2 5799 broad.mit.edu 37 7 157941064 157941064 + Intron SNP C T T rs113304374 2011-2255:2012-373-T g.chr7:157941064C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ARHGEF10 9639 broad.mit.edu 37 8 1781549 1781549 + Intron SNP T G G 2011-2255:2012-373-T g.chr8:1781549T>G uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 ZFHX4 79776 broad.mit.edu 37 8 77763761 77763761 + Missense_Mutation SNP T A A 2011-2255:2012-373-T g.chr8:77763761T>A uc003yav.2 + 10 4856 c.4469T>A c.(4468-4470)CTT>CAT p.L1490H ZFHX4_uc003yau.1_Missense_Mutation_p.L1535H|ZFHX4_uc003yaw.1_Missense_Mutation_p.L1490H NM_024721 NP_078997 HEATR7A 727957 broad.mit.edu 37 8 145288338 145288338 + Intron SNP T C C rs11784356 2011-2255:2012-373-T g.chr8:145288338T>C uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 NOTCH1 4851 broad.mit.edu 37 9 139396851 139396851 + Missense_Mutation SNP C T T 2011-2255:2012-373-T g.chr9:139396851C>T uc004chz.2 - 28 5257 c.5257G>A c.(5257-5259)GGG>AGG p.G1753R NM_017617 NP_060087 KIF1B 23095 broad.mit.edu 37 1 10386241 10386241 + Silent SNP C T T 2011-2257:2012-329-T g.chr1:10386241C>T uc001aqx.3 + 27 2950 c.2748C>T c.(2746-2748)GCC>GCT p.A916A KIF1B_uc001aqw.3_Silent_p.A870A|KIF1B_uc001aqy.2_Silent_p.A890A|KIF1B_uc001aqz.2_Silent_p.A916A|KIF1B_uc001ara.2_Silent_p.A876A|KIF1B_uc001arb.2_Silent_p.A902A NM_015074 NP_055889 MDM4 4194 broad.mit.edu 37 1 204515863 204515863 + Intron SNP C T T rs2290855 by1000genomes 2011-2257:2012-329-T g.chr1:204515863C>T uc001hba.2 + MDM4_uc001hbd.1_Intron|MDM4_uc010pqw.1_Intron|MDM4_uc010pqx.1_Intron|MDM4_uc001hay.1_Intron|MDM4_uc001hbb.2_Intron|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_Intron|MDM4_uc009xbe.1_Intron NM_002393 NP_002384 USH2A 7399 broad.mit.edu 37 1 215990414 215990414 + Missense_Mutation SNP A C C rs41305094 byFrequency 2011-2257:2012-329-T g.chr1:215990414A>C uc001hku.1 - 48 9882 c.9495T>G c.(9493-9495)GAT>GAG p.D3165E NM_206933 NP_996816 RB1 5925 broad.mit.edu 37 13 48936983 48936983 + Nonsense_Mutation SNP C T T 2011-2257:2012-329-T g.chr13:48936983C>T uc001vcb.2 + 8 917 c.751C>T c.(751-753)CGA>TGA p.R251* RB1_uc010acs.1_RNA|RB1_uc010act.1_Intron NM_000321 NP_000312 LMF1 64788 broad.mit.edu 37 16 907692 907692 + Intron SNP T A A 2011-2257:2012-329-T g.chr16:907692T>A uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 DSEL 92126 broad.mit.edu 37 18 65181965 65181965 + Translation_Start_Site SNP G C C 2011-2257:2012-329-T g.chr18:65181965G>C uc002lke.1 - 2 1135 c.-89C>G c.(-91--87)ATCAG>ATGAG NM_032160 NP_115536 RMND5A 64795 broad.mit.edu 37 2 87625846 87625846 + Intron SNP T C C rs142224802 by1000genomes 2011-2257:2012-329-T g.chr2:87625846T>C uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87634098 87634098 + Intron SNP G A A rs141310637 2011-2257:2012-329-T g.chr2:87634098G>A uc002srs.3 + HDAC4 9759 broad.mit.edu 37 2 240154344 240154344 + Intron SNP T C C 2011-2257:2012-329-T g.chr2:240154344T>C uc002vyk.3 - HDAC4_uc010fyz.1_Intron|HDAC4_uc010zoa.1_Intron|HDAC4_uc010fza.2_Intron|HDAC4_uc002vyl.1_Intron NM_006037 NP_006028 COL18A1 80781 broad.mit.edu 37 21 46862828 46862828 + Intron SNP G C C 2011-2257:2012-329-T g.chr21:46862828G>C uc002zhg.2 + NM_130445 NP_569712 GRAMD4 23151 broad.mit.edu 37 22 47071101 47071101 + Intron SNP C G G 2011-2257:2012-329-T g.chr22:47071101C>G uc003bhx.2 + GRAMD4_uc010had.2_Intron|GRAMD4_uc003bhy.2_Intron NM_015124 NP_055939 MUC4 4585 broad.mit.edu 37 3 195497918 195497918 + Intron SNP G C C 2011-2257:2012-329-T g.chr3:195497918G>C uc011bto.1 - MUC4_uc003fuz.2_Intron|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 CRIPAK 285464 broad.mit.edu 37 4 1388820 1388820 + Missense_Mutation SNP G A A 2011-2257:2012-329-T g.chr4:1388820G>A uc003gdf.2 + 1 3481 c.521G>A c.(520-522)TGT>TAT p.C174Y NM_175918 NP_787114 RUFY1 80230 broad.mit.edu 37 5 179016623 179016623 + Missense_Mutation SNP G A A 2011-2257:2012-329-T g.chr5:179016623G>A uc003mka.1 + 9 1103 c.1103G>A c.(1102-1104)CGA>CAA p.R368Q RUFY1_uc003mkb.1_Missense_Mutation_p.R260Q|RUFY1_uc003mkc.1_Missense_Mutation_p.R260Q|RUFY1_uc003mkd.1_5'Flank NM_025158 NP_079434 PKHD1 5314 broad.mit.edu 37 6 51890550 51890550 + Missense_Mutation SNP G C C 2011-2257:2012-329-T g.chr6:51890550G>C uc003pah.1 - 32 4334 c.4058C>G c.(4057-4059)TCC>TGC p.S1353C PKHD1_uc003pai.2_Missense_Mutation_p.S1353C NM_138694 NP_619639 RNGTT 8732 broad.mit.edu 37 6 89559588 89559588 + Intron SNP C A A 2011-2257:2012-329-T g.chr6:89559588C>A uc003pmr.2 - RNGTT_uc003pms.2_Intron|RNGTT_uc011dzu.1_Intron|RNGTT_uc003pmt.2_Intron NM_003800 NP_003791 SCML4 256380 broad.mit.edu 37 6 108104926 108104926 + Intron SNP C T T 2011-2257:2012-329-T g.chr6:108104926C>T uc010kdf.2 - SCML4_uc003prz.3_Intron|SCML4_uc011eam.1_Intron NM_198081 NP_932347 WBSCR17 64409 broad.mit.edu 37 7 70800776 70800776 + Intron SNP C T T 2011-2257:2012-329-T g.chr7:70800776C>T uc003tvy.2 + WBSCR17_uc003tvz.2_Intron NM_022479 NP_071924 SLC26A3 1811 broad.mit.edu 37 7 107434897 107434897 + Missense_Mutation SNP C A A 2011-2257:2012-329-T g.chr7:107434897C>A uc003ver.2 - 2 269 c.58G>T c.(58-60)GCT>TCT p.A20S SLC26A3_uc003ves.2_Missense_Mutation_p.M1I NM_000111 NP_000102 MLL3 58508 broad.mit.edu 37 7 151904483 151904483 + Nonsense_Mutation SNP G C C 2011-2257:2012-329-T g.chr7:151904483G>C uc003wla.2 - 24 3962 c.3743C>G c.(3742-3744)TCA>TGA p.S1248* MLL3_uc003wkz.2_Nonsense_Mutation_p.S309* NM_170606 NP_733751 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G A A 2011-2257:2012-329-T g.chr9:20414373G>A uc003zoe.2 - 5 730 c.471C>T c.(469-471)AGC>AGT p.S157S MLLT3_uc011lne.1_Silent_p.S125S|MLLT3_uc011lnf.1_Silent_p.S154S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Intron NM_004529 NP_004520 CLCN4 1183 broad.mit.edu 37 X 10162966 10162966 + Missense_Mutation SNP T G G 2011-2257:2012-329-T g.chrX:10162966T>G uc004csy.3 + 5 690 c.260T>G c.(259-261)GTC>GGC p.V87G CLCN4_uc011mid.1_5'UTR NM_001830 NP_001821 TPM3 7170 broad.mit.edu 37 1 154165082 154165082 + 5'Flank SNP C A A 2011-2259:2012-1326-T g.chr1:154165082C>A uc001fec.1 - NM_152263 NP_689476 ADARB2 105 broad.mit.edu 37 10 1502955 1502955 + Intron SNP A T T rs113092512 2011-2259:2012-1326-T g.chr10:1502955A>T uc009xhq.2 - NM_018702 NP_061172 SYNE2 23224 broad.mit.edu 37 14 64674981 64674981 + Intron SNP T C C rs1152595 by1000genomes 2011-2259:2012-1326-T g.chr14:64674981T>C uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_5'Flank NM_015180 NP_055995 ACTN1 87 broad.mit.edu 37 14 69395845 69395845 + Intron SNP G A A 2011-2259:2012-1326-T g.chr14:69395845G>A uc001xkl.2 - ACTN1_uc010ttb.1_Intron|ACTN1_uc001xkm.2_Intron|ACTN1_uc001xkn.2_Intron|ACTN1_uc001xko.1_Intron|ACTN1_uc010ttd.1_Intron NM_001102 NP_001093 DNAH3 55567 broad.mit.edu 37 16 21030982 21030982 + Missense_Mutation SNP C A A 2011-2259:2012-1326-T g.chr16:21030982C>A uc010vbe.1 - 41 5986 c.5986G>T c.(5986-5988)GTC>TTC p.V1996F NM_017539 NP_060009 DYSF 8291 broad.mit.edu 37 2 71845701 71845701 + Intron SNP T G G 2011-2259:2012-1326-T g.chr2:71845701T>G uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 TTN 7273 broad.mit.edu 37 2 179560896 179560896 + Missense_Mutation SNP C G G 2011-2259:2012-1326-T g.chr2:179560896C>G uc010zfg.1 - 111 27395 c.27171G>C c.(27169-27171)GAG>GAC p.E9057D TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5718D|TTN_uc010fre.1_Missense_Mutation_p.E168D NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179642173 179642173 + Nonsense_Mutation SNP G C C 2011-2259:2012-1326-T g.chr2:179642173G>C uc010zfg.1 - 26 4843 c.4619C>G c.(4618-4620)TCA>TGA p.S1540* TTN_uc010zfh.1_Nonsense_Mutation_p.S1494*|TTN_uc010zfi.1_Nonsense_Mutation_p.S1494*|TTN_uc010zfj.1_Nonsense_Mutation_p.S1494*|TTN_uc002unb.2_Nonsense_Mutation_p.S1540*|uc002unc.1_RNA NM_133378 NP_596869 PPP2R2C 5522 broad.mit.edu 37 4 6513591 6513591 + Intron SNP A G G 2011-2259:2012-1326-T g.chr4:6513591A>G uc011bwd.1 - PPP2R2C_uc011bwe.1_Intron NM_181876 NP_870991 HLA-B 3106 broad.mit.edu 37 6 31325056 31325056 + 5'Flank SNP C T T rs140833037 2011-2259:2012-1326-T g.chr6:31325056C>T uc003nth.2 - HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_5'Flank|HLA-B_uc003ntg.1_5'Flank|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_5'Flank NM_005514 NP_005505 ROS1 6098 broad.mit.edu 37 6 117725644 117725644 + Intron SNP G C C 2011-2259:2012-1326-T g.chr6:117725644G>C uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 SYNE1 23345 broad.mit.edu 37 6 152772190 152772190 + Missense_Mutation SNP C G G 2011-2259:2012-1326-T g.chr6:152772190C>G uc010kiw.2 - 26 3780 c.3178G>C c.(3178-3180)GAG>CAG p.E1060Q SYNE1_uc003qot.3_Missense_Mutation_p.E1067Q|SYNE1_uc003qou.3_Missense_Mutation_p.E1060Q|SYNE1_uc010kjb.1_Missense_Mutation_p.E1043Q|SYNE1_uc003qow.2_Missense_Mutation_p.E355Q|SYNE1_uc003qox.1_Missense_Mutation_p.E576Q NM_182961 NP_892006 C7orf50 84310 broad.mit.edu 37 7 1041160 1041160 + Intron SNP A G G 2011-2259:2012-1326-T g.chr7:1041160A>G uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 SBDS 51119 broad.mit.edu 37 7 66456156 66456156 + Missense_Mutation SNP C G G 2011-2259:2012-1326-T g.chr7:66456156C>G uc003tvm.1 - 4 776 c.592G>C c.(592-594)GAA>CAA p.E198Q NM_016038 NP_057122 BRAF 673 broad.mit.edu 37 7 140625054 140625054 + 5'Flank SNP G C C 2011-2259:2012-1326-T g.chr7:140625054G>C uc003vwc.3 - NM_004333 NP_004324 NOTCH1 4851 broad.mit.edu 37 9 139396408 139396408 + Intron SNP A G G rs3124594 by1000genomes 2011-2259:2012-1326-T g.chr9:139396408A>G uc004chz.2 - NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139397707 139397707 + Silent SNP G A A rs10521 by1000genomes 2011-2259:2012-1326-T g.chr9:139397707G>A uc004chz.2 - 27 5094 c.5094C>T c.(5092-5094)GAC>GAT p.D1698D NOTCH1_uc004cia.1_Silent_p.D928D NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139400406 139400406 + Intron SNP C T T rs11145764 by1000genomes 2011-2259:2012-1326-T g.chr9:139400406C>T uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 USP26 83844 broad.mit.edu 37 X 132160107 132160107 + Missense_Mutation SNP G C C 2011-2259:2012-1326-T g.chrX:132160107G>C uc010nrm.1 - 6 2612 c.2142C>G c.(2140-2142)ATC>ATG p.I714M USP26_uc011mvf.1_Missense_Mutation_p.I714M NM_031907 NP_114113 EPHA2 1969 broad.mit.edu 37 1 16475483 16475483 + Silent SNP G A A 2011-2260:2012-1319-T g.chr1:16475483G>A uc001aya.1 - 3 350 c.213C>T c.(211-213)AAC>AAT p.N71N EPHA2_uc010oca.1_Silent_p.N71N NM_004431 NP_004422 PDE4DIP 9659 broad.mit.edu 37 1 144854454 144854454 + Intron SNP A C C rs2274129 2011-2260:2012-1319-T g.chr1:144854454A>C uc001elw.3 - NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Intron NM_014644 NP_055459 SPTA1 6708 broad.mit.edu 37 1 158613035 158613035 + Intron SNP C T T 2011-2260:2012-1319-T g.chr1:158613035C>T uc001fst.1 - NM_003126 NP_003117 CDH23 64072 broad.mit.edu 37 10 73448898 73448898 + Intron SNP G C C 2011-2260:2012-1319-T g.chr10:73448898G>C uc001jrx.3 + CDH23_uc001jry.2_Intron|CDH23_uc001jrz.2_Intron NM_022124 NP_071407 DOCK1 1793 broad.mit.edu 37 10 129226764 129226764 + Intron SNP T C C rs12355357 2011-2260:2012-1319-T g.chr10:129226764T>C uc001ljt.2 + DOCK1_uc010qun.1_Intron|DOCK1_uc009yaq.2_Intron NM_001380 NP_001371 DOCK1 1793 broad.mit.edu 37 10 129226766 129226766 + Intron SNP G A A rs12359258 2011-2260:2012-1319-T g.chr10:129226766G>A uc001ljt.2 + DOCK1_uc010qun.1_Intron|DOCK1_uc009yaq.2_Intron NM_001380 NP_001371 AHNAK 79026 broad.mit.edu 37 11 62286091 62286091 + Missense_Mutation SNP C G G 2011-2260:2012-1319-T g.chr11:62286091C>G uc001ntl.2 - 5 16098 c.15798G>C c.(15796-15798)TTG>TTC p.L5266F AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 AHNAK 79026 broad.mit.edu 37 11 62289665 62289665 + Missense_Mutation SNP C G G 2011-2260:2012-1319-T g.chr11:62289665C>G uc001ntl.2 - 5 12524 c.12224G>C c.(12223-12225)GGA>GCA p.G4075A AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 LRTOMT 220074 broad.mit.edu 37 11 71792071 71792071 + Intron SNP A G G rs3018301 by1000genomes 2011-2260:2012-1319-T g.chr11:71792071A>G uc001orr.2 + NUMA1_uc001ork.1_5'Flank|NUMA1_uc001orl.1_5'Flank|NUMA1_uc001orm.1_5'Flank|NUMA1_uc001oro.1_5'Flank|NUMA1_uc001orq.2_5'Flank|LRTOMT_uc009ysz.2_Intron|LRTOMT_uc010rqt.1_Intron|LRTOMT_uc010rqu.1_Intron|LRTOMT_uc009yta.2_Intron|LRTOMT_uc010rqv.1_Intron|LRTOMT_uc010rqw.1_Intron|LRTOMT_uc001ors.3_Intron|LRTOMT_uc010rqs.1_Intron NM_145309 NP_660352 RIMBP2 23504 broad.mit.edu 37 12 131130838 131130838 + Intron SNP G C C rs143780499 by1000genomes 2011-2260:2012-1319-T g.chr12:131130838G>C uc001uim.2 - FLT3 2322 broad.mit.edu 37 13 28597434 28597434 + Intron SNP C T T 2011-2260:2012-1319-T g.chr13:28597434C>T uc001urw.2 - FLT3_uc010aao.2_Intron|FLT3_uc010tdn.1_Intron NM_004119 NP_004110 RB1 5925 broad.mit.edu 37 13 48937055 48937055 + Nonsense_Mutation SNP G T T 2011-2260:2012-1319-T g.chr13:48937055G>T uc001vcb.2 + 8 989 c.823G>T c.(823-825)GAA>TAA p.E275* RB1_uc010acs.1_RNA|RB1_uc010act.1_Intron NM_000321 NP_000312 RB1 5925 broad.mit.edu 37 13 48938971 48938971 + Intron SNP C G G 2011-2260:2012-1319-T g.chr13:48938971C>G uc001vcb.2 + RB1_uc010act.1_Intron NM_000321 NP_000312 ERCC5 2073 broad.mit.edu 37 13 103506157 103506157 + Silent SNP G A A 2011-2260:2012-1319-T g.chr13:103506157G>A uc001vpw.2 + 3 758 c.315G>A c.(313-315)ACG>ACA p.T105T ERCC5_uc001vpu.1_Silent_p.T559T|ERCC5_uc010tjb.1_Silent_p.T105T|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Intron NM_000123 NP_000114 AKT1 207 broad.mit.edu 37 14 105259734 105259734 + 5'UTR SNP C A A rs1130214 byFrequency;by1000genomes 2011-2260:2012-1319-T g.chr14:105259734C>A uc001ypk.2 - 1 INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_5'UTR|AKT1_uc010axa.2_Intron|AKT1_uc001ypm.2_Intron|AKT1_uc001ypn.2_Intron NM_005163 NP_005154 SOLH 6650 broad.mit.edu 37 16 601048 601048 + Intron SNP G A A 2011-2260:2012-1319-T g.chr16:601048G>A uc002chi.2 + SOLH_uc002chj.2_5'Flank NM_005632 NP_005623 TBC1D24 57465 broad.mit.edu 37 16 2537762 2537762 + Intron SNP C A A 2011-2260:2012-1319-T g.chr16:2537762C>A uc002cql.2 + TBC1D24_uc002cqk.2_Intron NM_020705 NP_065756 DNAH3 55567 broad.mit.edu 37 16 21086771 21086771 + Silent SNP G A A 2011-2260:2012-1319-T g.chr16:21086771G>A uc010vbe.1 - 21 3081 c.3081C>T c.(3079-3081)GAC>GAT p.D1027D NM_017539 NP_060009 KLHDC4 54758 broad.mit.edu 37 16 87772742 87772742 + Intron SNP T C C rs138774934 2011-2260:2012-1319-T g.chr16:87772742T>C uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 KLHDC4 54758 broad.mit.edu 37 16 87772784 87772784 + Intron SNP C T T 2011-2260:2012-1319-T g.chr16:87772784C>T uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 ZFPM1 161882 broad.mit.edu 37 16 88559851 88559851 + Intron SNP A G G rs74035506 by1000genomes 2011-2260:2012-1319-T g.chr16:88559851A>G uc002fkv.2 + NM_153813 NP_722520 RAP1GAP2 23108 broad.mit.edu 37 17 2741776 2741776 + Intron SNP G C C rs9915696 by1000genomes 2011-2260:2012-1319-T g.chr17:2741776G>C uc010ckd.2 + RAP1GAP2_uc010cke.2_Intron NM_015085 NP_055900 BRIP1 83990 broad.mit.edu 37 17 59871114 59871114 + Intron SNP G T T 2011-2260:2012-1319-T g.chr17:59871114G>T uc002izk.1 - NM_032043 NP_114432 ABCA6 23460 broad.mit.edu 37 17 67077172 67077172 + Intron SNP C T T 2011-2260:2012-1319-T g.chr17:67077172C>T uc002jhw.1 - NM_080284 NP_525023 C18orf1 753 broad.mit.edu 37 18 13262428 13262428 + Intron SNP C T T rs76963834 2011-2260:2012-1319-T g.chr18:13262428C>T uc002ksa.2 + C18orf1_uc002ksb.2_Intron NM_181481 NP_852146 C18orf1 753 broad.mit.edu 37 18 13262494 13262494 + Intron SNP C T T 2011-2260:2012-1319-T g.chr18:13262494C>T uc002ksa.2 + C18orf1_uc002ksb.2_Intron NM_181481 NP_852146 CDH2 1000 broad.mit.edu 37 18 25736672 25736672 + Intron SNP C A A rs4991538 2011-2260:2012-1319-T g.chr18:25736672C>A uc002kwg.2 - NM_001792 NP_001783 ZNF443 10224 broad.mit.edu 37 19 12541447 12541447 + Silent SNP G A A 2011-2260:2012-1319-T g.chr19:12541447G>A uc002mtu.2 - 4 1737 c.1539C>T c.(1537-1539)TTC>TTT p.F513F NM_005815 NP_005806 NOTCH3 4854 broad.mit.edu 37 19 15281386 15281386 + Intron SNP C A A rs2074620 by1000genomes 2011-2260:2012-1319-T g.chr19:15281386C>A uc002nan.2 - NM_000435 NP_000426 NLRP4 147945 broad.mit.edu 37 19 56362638 56362638 + Intron SNP A T T 2011-2260:2012-1319-T g.chr19:56362638A>T uc002qmd.3 + NM_134444 NP_604393 TSSC1 7260 broad.mit.edu 37 2 3289637 3289637 + Intron SNP C T T 2011-2260:2012-1319-T g.chr2:3289637C>T uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 APOB 338 broad.mit.edu 37 2 21267210 21267210 + 5'Flank SNP A G G rs1800481 byFrequency;by1000genomes 2011-2260:2012-1319-T g.chr2:21267210A>G uc002red.2 - NM_000384 NP_000375 RMND5A 64795 broad.mit.edu 37 2 87656158 87656158 + Intron SNP C A A 2011-2260:2012-1319-T g.chr2:87656158C>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87656193 87656193 + Intron SNP C A A 2011-2260:2012-1319-T g.chr2:87656193C>A uc002srs.3 + TTN 7273 broad.mit.edu 37 2 179419351 179419351 + Missense_Mutation SNP C G G 2011-2260:2012-1319-T g.chr2:179419351C>G uc010zfg.1 - 281 81243 c.81019G>C c.(81019-81021)GAG>CAG p.E27007Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E20702Q|TTN_uc010zfi.1_Missense_Mutation_p.E20635Q|TTN_uc010zfj.1_Missense_Mutation_p.E20510Q NM_133378 NP_596869 ASXL1 171023 broad.mit.edu 37 20 30956834 30956834 + Missense_Mutation SNP G A A 2011-2260:2012-1319-T g.chr20:30956834G>A uc002wxs.2 + 3 586 c.160G>A c.(160-162)GCA>ACA p.A54T ASXL1_uc002wxr.1_RNA|ASXL1_uc002wxt.2_RNA|ASXL1_uc010geb.2_5'UTR NM_015338 NP_056153 TPTE 7179 broad.mit.edu 37 21 10996134 10996134 + RNA SNP C A A 2011-2260:2012-1319-T g.chr21:10996134C>A uc002yis.1 - 12 c.2052G>T EP300 2033 broad.mit.edu 37 22 41566491 41566491 + Missense_Mutation SNP G C C 2011-2260:2012-1319-T g.chr22:41566491G>C uc003azl.3 + 27 4763 c.4368G>C c.(4366-4368)AAG>AAC p.K1456N NM_001429 NP_001420 GMPS 8833 broad.mit.edu 37 3 155628896 155628896 + Intron SNP C A A 2011-2260:2012-1319-T g.chr3:155628896C>A uc003faq.2 + GMPS_uc011bom.1_Intron NM_003875 NP_003866 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G C C rs104886003 2011-2260:2012-1319-T g.chr3:178936091G>C uc003fjk.2 + 10 1790 c.1633G>C c.(1633-1635)GAG>CAG p.E545Q NM_006218 NP_006209 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C G G rs121913483 2011-2260:2012-1319-T g.chr4:1803568C>G uc003gdr.3 + 7 1002 c.746C>G c.(745-747)TCC>TGC p.S249C FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C NM_000142 NP_000133 FBXW7 55294 broad.mit.edu 37 4 153249384 153249384 + Missense_Mutation SNP C G G 2011-2260:2012-1319-T g.chr4:153249384C>G uc003ims.2 - 9 1543 c.1394G>C c.(1393-1395)CGT>CCT p.R465P FBXW7_uc011cii.1_Missense_Mutation_p.R465P|FBXW7_uc003imt.2_Missense_Mutation_p.R465P|FBXW7_uc011cih.1_Missense_Mutation_p.R289P|FBXW7_uc003imq.2_Missense_Mutation_p.R385P|FBXW7_uc003imr.2_Missense_Mutation_p.R347P NM_033632 NP_361014 SLC6A3 6531 broad.mit.edu 37 5 1422679 1422679 + Intron SNP A G G 2011-2260:2012-1319-T g.chr5:1422679A>G uc003jck.2 - NM_001044 NP_001035 CTNND2 1501 broad.mit.edu 37 5 11346506 11346506 + Missense_Mutation SNP C T T 2011-2260:2012-1319-T g.chr5:11346506C>T uc003jfa.1 - 9 1751 c.1606G>A c.(1606-1608)GAT>AAT p.D536N CTNND2_uc010itt.2_Missense_Mutation_p.D445N|CTNND2_uc011cmy.1_Missense_Mutation_p.D199N|CTNND2_uc011cmz.1_Missense_Mutation_p.D103N|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D103N NM_001332 NP_001323 FAM134B 54463 broad.mit.edu 37 5 16535853 16535853 + Intron SNP A G G rs70938059 2011-2260:2012-1319-T g.chr5:16535853A>G uc003jfs.2 - NM_001034850 NP_001030022 HLA-A 3105 broad.mit.edu 37 6 29912614 29912614 + Intron SNP C A A rs41545117 2011-2260:2012-1319-T g.chr6:29912614C>A uc003nol.2 + HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc003nok.2_Intron|HLA-A_uc003non.2_Intron|HLA-A_uc003noo.2_Intron|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_Intron|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_Intron|HLA-A_uc011dmd.1_3'UTR NM_002116 NP_002107 HLA-A 3105 broad.mit.edu 37 6 29913386 29913386 + 3'UTR SNP C G G rs116392944 by1000genomes 2011-2260:2012-1319-T g.chr6:29913386C>G uc003nol.2 + 8 HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc003non.2_3'UTR|HLA-A_uc003noo.2_3'UTR|HLA-A_uc010jrr.2_3'UTR|HLA-A_uc003nom.2_3'UTR|HLA-A_uc011dmc.1_3'UTR|HLA-A_uc011dmd.1_3'UTR NM_002116 NP_002107 HLA-A 3105 broad.mit.edu 37 6 29913430 29913430 + 3'UTR SNP C T T rs115913151 by1000genomes 2011-2260:2012-1319-T g.chr6:29913430C>T uc003nol.2 + 8 HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc003non.2_3'UTR|HLA-A_uc003noo.2_3'UTR|HLA-A_uc010jrr.2_3'UTR|HLA-A_uc003nom.2_3'UTR|HLA-A_uc011dmc.1_3'UTR|HLA-A_uc011dmd.1_3'UTR NM_002116 NP_002107 ME1 4199 broad.mit.edu 37 6 84141253 84141253 + 5'Flank SNP T G G rs3812144 by1000genomes 2011-2260:2012-1319-T g.chr6:84141253T>G uc003pjy.2 - ME1_uc011dzb.1_5'Flank|ME1_uc011dzc.1_5'Flank NM_002395 NP_002386 ME1 4199 broad.mit.edu 37 6 84141282 84141282 + 5'Flank SNP G C C rs3812143 by1000genomes 2011-2260:2012-1319-T g.chr6:84141282G>C uc003pjy.2 - ME1_uc011dzb.1_5'Flank|ME1_uc011dzc.1_5'Flank NM_002395 NP_002386 ME1 4199 broad.mit.edu 37 6 84141393 84141393 + 5'Flank SNP T C C rs3812142 by1000genomes 2011-2260:2012-1319-T g.chr6:84141393T>C uc003pjy.2 - ME1_uc011dzb.1_5'Flank|ME1_uc011dzc.1_5'Flank NM_002395 NP_002386 SLC26A3 1811 broad.mit.edu 37 7 107431712 107431712 + Intron SNP T C C rs41280242 by1000genomes 2011-2260:2012-1319-T g.chr7:107431712T>C uc003ver.2 - SLC26A3_uc003ves.2_Intron NM_000111 NP_000102 MLL3 58508 broad.mit.edu 37 7 151859569 151859569 + Missense_Mutation SNP G A A rs138747124 2011-2260:2012-1319-T g.chr7:151859569G>A uc003wla.2 - 43 11312 c.11093C>T c.(11092-11094)ACG>ATG p.T3698M MLL3_uc003wkz.2_Missense_Mutation_p.T2759M|MLL3_uc003wky.2_Missense_Mutation_p.T1207M NM_170606 NP_733751 TOP1MT 116447 broad.mit.edu 37 8 144404100 144404100 + Intron SNP C T T 2011-2260:2012-1319-T g.chr8:144404100C>T uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 TOP1MT 116447 broad.mit.edu 37 8 144404214 144404214 + Intron SNP T A A 2011-2260:2012-1319-T g.chr8:144404214T>A uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 FANCC 2176 broad.mit.edu 37 9 97873995 97873995 + Intron SNP G A A rs45465991 by1000genomes 2011-2260:2012-1319-T g.chr9:97873995G>A uc004avh.2 - FANCC_uc004avi.3_Intron NM_000136 NP_000127 ERAS 3266 broad.mit.edu 37 X 48687687 48687687 + Missense_Mutation SNP G A A 2011-2260:2012-1319-T g.chrX:48687687G>A uc004dky.1 + 1 405 c.154G>A c.(154-156)GTG>ATG p.V52M NM_181532 NP_853510 HUWE1 10075 broad.mit.edu 37 X 53561096 53561096 + Missense_Mutation SNP C A A 2011-2260:2012-1319-T g.chrX:53561096C>A uc004dsp.2 - 83 13296 c.12894G>T c.(12892-12894)CAG>CAT p.Q4298H HUWE1_uc004dsn.2_Missense_Mutation_p.Q3106H NM_031407 NP_113584 HUWE1 10075 broad.mit.edu 37 X 53630196 53630196 + Intron SNP C T T 2011-2260:2012-1319-T g.chrX:53630196C>T uc004dsp.2 - NM_031407 NP_113584 NONO 4841 broad.mit.edu 37 X 70517238 70517238 + Missense_Mutation SNP C T T 2011-2260:2012-1319-T g.chrX:70517238C>T uc004dzo.2 + 9 1665 c.955C>T c.(955-957)CGC>TGC p.R319C BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.R319C|NONO_uc004dzp.2_Missense_Mutation_p.R319C|NONO_uc011mpv.1_Missense_Mutation_p.R230C|NONO_uc004dzq.2_Missense_Mutation_p.R188C NM_001145408 NP_001138880 MDM4 4194 broad.mit.edu 37 1 204516025 204516025 + Intron SNP A G G rs2290854 by1000genomes 2011-2262:2012-374-T g.chr1:204516025A>G uc001hba.2 + MDM4_uc001hbd.1_Intron|MDM4_uc010pqw.1_Intron|MDM4_uc010pqx.1_Intron|MDM4_uc001hay.1_Intron|MDM4_uc001hbb.2_Intron|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_Intron|MDM4_uc009xbe.1_Intron NM_002393 NP_002384 PDE3A 5139 broad.mit.edu 37 12 20783100 20783100 + Intron SNP C T T rs11045348 by1000genomes 2011-2262:2012-374-T g.chr12:20783100C>T uc001reh.1 + NM_000921 NP_000912 F7 2155 broad.mit.edu 37 13 113762657 113762657 + Intron SNP G A A 2011-2262:2012-374-T g.chr13:113762657G>A uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 TRAF3 7187 broad.mit.edu 37 14 103276855 103276855 + Intron SNP A G G rs8006649 by1000genomes 2011-2262:2012-374-T g.chr14:103276855A>G uc001ymc.1 + TRAF3_uc001yme.1_Intron|TRAF3_uc001ymd.1_Intron|TRAF3_uc010txy.1_Intron NM_145725 NP_663777 BAIAP3 8938 broad.mit.edu 37 16 1389827 1389827 + Intron SNP C T T 2011-2262:2012-374-T g.chr16:1389827C>T uc002clk.1 + BAIAP3_uc002clj.2_Intron|BAIAP3_uc010uuz.1_Intron|BAIAP3_uc010uva.1_Intron|BAIAP3_uc010uvb.1_Intron|BAIAP3_uc010uvc.1_Intron NM_003933 NP_003924 MYH13 8735 broad.mit.edu 37 17 10248715 10248715 + Intron SNP T A A 2011-2262:2012-374-T g.chr17:10248715T>A uc002gmk.1 - MYH13_uc010vvf.1_Intron NM_003802 NP_003793 CCDC57 284001 broad.mit.edu 37 17 80108804 80108804 + Intron SNP C T T 2011-2262:2012-374-T g.chr17:80108804C>T uc002kdx.1 - CCDC57_uc002kdy.2_Intron NM_198082 NP_932348 LRP1B 53353 broad.mit.edu 37 2 140997197 140997197 + Intron SNP T G G rs3748864 byFrequency;by1000genomes 2011-2262:2012-374-T g.chr2:140997197T>G uc002tvj.1 - NM_018557 NP_061027 MICAL3 57553 broad.mit.edu 37 22 18359590 18359590 + Intron SNP G A A rs143884492 2011-2262:2012-374-T g.chr22:18359590G>A uc002zng.3 - MICAL3_uc011agl.1_Intron|MICAL3_uc002znh.2_Intron|MICAL3_uc002znj.1_Intron|MICAL3_uc002znk.1_Intron|MICAL3_uc002znl.1_Intron|MICAL3_uc002znm.2_Intron|MICAL3_uc010grf.2_Intron NM_015241 NP_056056 CHCHD6 84303 broad.mit.edu 37 3 126581089 126581089 + Intron SNP T A A 2011-2262:2012-374-T g.chr3:126581089T>A uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 CLSTN2 64084 broad.mit.edu 37 3 140282021 140282021 + Missense_Mutation SNP C T T rs148840334 2011-2262:2012-374-T g.chr3:140282021C>T uc003etn.2 + 15 2648 c.2458C>T c.(2458-2460)CGG>TGG p.R820W NM_022131 NP_071414 ETV5 2119 broad.mit.edu 37 3 185766711 185766711 + Intron SNP G A A rs79060173 by1000genomes 2011-2262:2012-374-T g.chr3:185766711G>A uc003fpz.2 - ETV5_uc003fpy.2_Intron NM_004454 NP_004445 FAM53A 152877 broad.mit.edu 37 4 1651569 1651569 + Intron SNP T C C rs62287689 by1000genomes 2011-2262:2012-374-T g.chr4:1651569T>C uc011bve.1 - FAM53A_uc010ibw.2_Intron NM_001013622 NP_001013644 FAM53A 152877 broad.mit.edu 37 4 1651582 1651582 + Intron SNP A T T rs36205275 2011-2262:2012-374-T g.chr4:1651582A>T uc011bve.1 - FAM53A_uc010ibw.2_Intron NM_001013622 NP_001013644 PPP2R2C 5522 broad.mit.edu 37 4 6513603 6513603 + Intron SNP G A A 2011-2262:2012-374-T g.chr4:6513603G>A uc011bwd.1 - PPP2R2C_uc011bwe.1_Intron NM_181876 NP_870991 PPP2R2C 5522 broad.mit.edu 37 4 6514023 6514023 + Intron SNP G A A 2011-2262:2012-374-T g.chr4:6514023G>A uc011bwd.1 - PPP2R2C_uc011bwe.1_Intron NM_181876 NP_870991 FAT4 79633 broad.mit.edu 37 4 126411034 126411034 + Intron SNP T A A 2011-2262:2012-374-T g.chr4:126411034T>A uc003ifj.3 + FAT4_uc011cgp.1_Intron|FAT4_uc003ifi.1_Intron NM_024582 NP_078858 SORBS2 8470 broad.mit.edu 37 4 186717994 186717994 + Intron SNP G A A 2011-2262:2012-374-T g.chr4:186717994G>A uc003iyl.2 - SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Intron|SORBS2_uc011cky.1_Intron|SORBS2_uc003iyp.2_Intron NM_021069 NP_066547 SYNE1 23345 broad.mit.edu 37 6 152782933 152782933 + Intron SNP G A A rs579464 by1000genomes 2011-2262:2012-374-T g.chr6:152782933G>A uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qow.2_Intron|SYNE1_uc003qox.1_Intron|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152809773 152809773 + Intron SNP T C C rs9371254 by1000genomes 2011-2262:2012-374-T g.chr6:152809773T>C uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qpa.1_Intron NM_182961 NP_892006 UBXN2B 137886 broad.mit.edu 37 8 59339291 59339291 + Intron SNP G C C 2011-2262:2012-374-T g.chr8:59339291G>C uc003xtl.2 + NM_001077619 NP_001071087 MMP16 4325 broad.mit.edu 37 8 89179837 89179837 + Intron SNP C A A 2011-2262:2012-374-T g.chr8:89179837C>A uc003yeb.3 - MMP16_uc003yec.2_Intron NM_005941 NP_005932 ZFP41 286128 broad.mit.edu 37 8 144342275 144342275 + 3'UTR SNP C T T 2011-2262:2012-374-T g.chr8:144342275C>T uc003yxw.2 + 3 ZFP41_uc003yxv.2_Intron NM_173832 NP_776193 PARP10 84875 broad.mit.edu 37 8 145055603 145055603 + Intron SNP A G G rs13254242 2011-2262:2012-374-T g.chr8:145055603A>G uc003zal.3 - PARP10_uc003zak.3_Intron|PARP10_uc011lku.1_Intron|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Intron NM_032789 NP_116178 FANCC 2176 broad.mit.edu 37 9 97873339 97873339 + Intron SNP G A A rs879492 by1000genomes 2011-2262:2012-374-T g.chr9:97873339G>A uc004avh.2 - FANCC_uc004avi.3_3'UTR NM_000136 NP_000127 EXD3 54932 broad.mit.edu 37 9 140223485 140223485 + Intron SNP G A A 2011-2262:2012-374-T g.chr9:140223485G>A uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron NM_017820 NP_060290 PLCXD1 55344 broad.mit.edu 37 X 197002 197002 + 5'Flank SNP G A A 2011-2262:2012-374-T g.chrX:197002G>A uc004cpc.2 + PLCXD1_uc011mgx.1_Intron NM_018390 NP_060860 C1orf159 54991 broad.mit.edu 37 1 1043836 1043836 + Intron SNP T C C 2011-2263:2012-1327-T g.chr1:1043836T>C uc001act.2 - C1orf159_uc001acu.2_Intron|C1orf159_uc001acr.2_Intron|C1orf159_uc001acs.2_Intron|C1orf159_uc001acp.2_5'Flank NM_017891 NP_060361 C1orf159 54991 broad.mit.edu 37 1 1043984 1043984 + Intron SNP C T T rs138360598 by1000genomes 2011-2263:2012-1327-T g.chr1:1043984C>T uc001act.2 - C1orf159_uc001acu.2_Intron|C1orf159_uc001acr.2_Intron|C1orf159_uc001acs.2_Intron|C1orf159_uc001acp.2_5'Flank NM_017891 NP_060361 PTCHD2 57540 broad.mit.edu 37 1 11582916 11582916 + Intron SNP G A A 2011-2263:2012-1327-T g.chr1:11582916G>A uc001ash.3 + PTCHD2_uc001asi.1_Intron NM_020780 NP_065831 PDPN 10630 broad.mit.edu 37 1 13928522 13928522 + Intron SNP T G G 2011-2263:2012-1327-T g.chr1:13928522T>G uc001avd.2 + PDPN_uc001avc.2_Intron|PDPN_uc009vob.2_Intron|PDPN_uc009voc.2_Intron|PDPN_uc001ave.2_Intron|PDPN_uc001avf.2_Intron NM_006474 NP_006465 NBPF1 55672 broad.mit.edu 37 1 16893619 16893619 + Intron SNP G C C rs142300312 by1000genomes 2011-2263:2012-1327-T g.chr1:16893619G>C uc009vos.1 - NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron NM_017940 NP_060410 NBPF1 55672 broad.mit.edu 37 1 16903026 16903026 + Intron SNP C A A rs3897291 2011-2263:2012-1327-T g.chr1:16903026C>A uc009vos.1 - NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Intron NM_017940 NP_060410 SERINC2 347735 broad.mit.edu 37 1 31904885 31904885 + Intron SNP A T T 2011-2263:2012-1327-T g.chr1:31904885A>T uc010ogh.1 + SERINC2_uc010ogg.1_Intron|SERINC2_uc001bst.2_Intron|SERINC2_uc001bsu.2_Intron|SERINC2_uc001bsv.2_Intron NM_178865 NP_849196 RBM15 64783 broad.mit.edu 37 1 110883681 110883681 + Missense_Mutation SNP G A A 2011-2263:2012-1327-T g.chr1:110883681G>A uc001dzl.1 + 1 1737 c.1654G>A c.(1654-1656)GCT>ACT p.A552T RBM15_uc001dzm.1_Missense_Mutation_p.A552T|uc001dzj.2_5'Flank NM_022768 NP_073605 NOTCH2 4853 broad.mit.edu 37 1 120596817 120596817 + Intron SNP T C C rs3911326 by1000genomes 2011-2263:2012-1327-T g.chr1:120596817T>C uc001eik.2 - NOTCH2_uc001eil.2_Intron|NOTCH2_uc001eim.3_Intron NM_024408 NP_077719 SPTA1 6708 broad.mit.edu 37 1 158590210 158590210 + Missense_Mutation SNP T C C 2011-2263:2012-1327-T g.chr1:158590210T>C uc001fst.1 - 44 6366 c.6167A>G c.(6166-6168)AAC>AGC p.N2056S NM_003126 NP_003117 DDR2 4921 broad.mit.edu 37 1 162743367 162743367 + Missense_Mutation SNP G A A 2011-2263:2012-1327-T g.chr1:162743367G>A uc001gcf.2 + 15 2302 c.1837G>A c.(1837-1839)GAT>AAT p.D613N DDR2_uc001gcg.2_Missense_Mutation_p.D613N NM_001014796 NP_001014796 USH2A 7399 broad.mit.edu 37 1 216465792 216465792 + Intron SNP C A A 2011-2263:2012-1327-T g.chr1:216465792C>A uc001hku.1 - USH2A_uc001hkv.2_Intron NM_206933 NP_996816 NRAP 4892 broad.mit.edu 37 10 115423094 115423094 + Intron SNP G C C rs12770981 by1000genomes 2011-2263:2012-1327-T g.chr10:115423094G>C uc001laj.2 - NRAP_uc001lak.2_Intron|NRAP_uc001lal.3_Intron NM_198060 NP_932326 LRTOMT 220074 broad.mit.edu 37 11 71792011 71792011 + Intron SNP C A A 2011-2263:2012-1327-T g.chr11:71792011C>A uc001orr.2 + NUMA1_uc001ork.1_5'Flank|NUMA1_uc001orl.1_5'Flank|NUMA1_uc001orm.1_5'Flank|NUMA1_uc001oro.1_5'Flank|NUMA1_uc001orq.2_5'Flank|LRTOMT_uc009ysz.2_Intron|LRTOMT_uc010rqt.1_Intron|LRTOMT_uc010rqu.1_Intron|LRTOMT_uc009yta.2_Intron|LRTOMT_uc010rqv.1_Intron|LRTOMT_uc010rqw.1_Intron|LRTOMT_uc001ors.3_Intron|LRTOMT_uc010rqs.1_Intron NM_145309 NP_660352 CBL 867 broad.mit.edu 37 11 119148988 119148988 + Missense_Mutation SNP C G G 2011-2263:2012-1327-T g.chr11:119148988C>G uc001pwe.2 + 8 1346 c.1208C>G c.(1207-1209)TCC>TGC p.S403C NM_005188 NP_005179 TSPAN9 10867 broad.mit.edu 37 12 3377607 3377607 + Intron SNP C T T 2011-2263:2012-1327-T g.chr12:3377607C>T uc001qlp.2 + NM_006675 NP_006666 PIK3C2G 5288 broad.mit.edu 37 12 18762450 18762450 + Intron SNP A C C rs2277328 by1000genomes 2011-2263:2012-1327-T g.chr12:18762450A>C uc001rdt.2 + PIK3C2G_uc010sia.1_Intron|PIK3C2G_uc010sib.1_Intron|PIK3C2G_uc010sic.1_Intron NM_004570 NP_004561 MLL2 8085 broad.mit.edu 37 12 49416368 49416368 + Intron SNP C T T 2011-2263:2012-1327-T g.chr12:49416368C>T uc001rta.3 - NM_003482 NP_003473 MLL2 8085 broad.mit.edu 37 12 49420277 49420277 + Nonsense_Mutation SNP C A A 2011-2263:2012-1327-T g.chr12:49420277C>A uc001rta.3 - 48 15472 c.15472G>T c.(15472-15474)GAG>TAG p.E5158* NM_003482 NP_003473 NAV3 89795 broad.mit.edu 37 12 78225110 78225110 + 5'UTR SNP T C C rs12227066 by1000genomes 2011-2263:2012-1327-T g.chr12:78225110T>C uc001syp.2 + 1 NAV3_uc001syo.2_5'UTR NM_014903 NP_055718 NAV3 89795 broad.mit.edu 37 12 78579430 78579430 + Silent SNP C A A 2011-2263:2012-1327-T g.chr12:78579430C>A uc001syp.2 + 31 5915 c.5742C>A c.(5740-5742)CGC>CGA p.R1914R NAV3_uc001syo.2_Silent_p.R1892R|NAV3_uc010sub.1_Silent_p.R1371R|NAV3_uc009zsf.2_Silent_p.R723R NM_014903 NP_055718 RIMBP2 23504 broad.mit.edu 37 12 131002867 131002867 + 5'Flank SNP A G G rs7134446 byFrequency;by1000genomes 2011-2263:2012-1327-T g.chr12:131002867A>G uc001uil.2 - RIMBP2_uc001uim.2_Intron NM_015347 NP_056162 RIMBP2 23504 broad.mit.edu 37 12 131002880 131002880 + 5'Flank SNP A T T rs7134458 by1000genomes 2011-2263:2012-1327-T g.chr12:131002880A>T uc001uil.2 - RIMBP2_uc001uim.2_Intron NM_015347 NP_056162 RIMBP2 23504 broad.mit.edu 37 12 131130910 131130910 + Intron SNP C G G 2011-2263:2012-1327-T g.chr12:131130910C>G uc001uim.2 - TDRD3 81550 broad.mit.edu 37 13 61068576 61068576 + Missense_Mutation SNP C A A 2011-2263:2012-1327-T g.chr13:61068576C>A uc001via.2 + 8 1234 c.446C>A c.(445-447)ACA>AAA p.T149K TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_Missense_Mutation_p.T149K|TDRD3_uc010aeg.2_Missense_Mutation_p.T242K|TDRD3_uc001vib.3_Missense_Mutation_p.T148K NM_030794 NP_110421 GPC5 2262 broad.mit.edu 37 13 92408505 92408505 + Intron SNP T G G rs3783054 by1000genomes 2011-2263:2012-1327-T g.chr13:92408505T>G uc010tif.1 + NM_004466 NP_004457 SYNE2 23224 broad.mit.edu 37 14 64457294 64457294 + Intron SNP C A A 2011-2263:2012-1327-T g.chr14:64457294C>A uc001xgm.2 + SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64574140 64574140 + Intron SNP C A A rs10135310 by1000genomes 2011-2263:2012-1327-T g.chr14:64574140C>A uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc010apz.1_Intron NM_015180 NP_055995 LMF1 64788 broad.mit.edu 37 16 908739 908739 + Intron SNP T A A 2011-2263:2012-1327-T g.chr16:908739T>A uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 KLHDC4 54758 broad.mit.edu 37 16 87772867 87772867 + Intron SNP G C C 2011-2263:2012-1327-T g.chr16:87772867G>C uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 TP53 7157 broad.mit.edu 37 17 7574035 7574035 + Splice_Site SNP T C C 2011-2263:2012-1327-T g.chr17:7574035T>C uc002gim.2 - 10 1188 c.994_splice c.e10-1 p.I332_splice TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_Splice_Site|TP53_uc010cng.1_Splice_Site|TP53_uc002gii.1_Splice_Site_p.I200_splice|TP53_uc010cnh.1_Splice_Site|TP53_uc010cni.1_Splice_Site|TP53_uc002gij.2_Splice_Site_p.I332_splice NM_001126112 NP_001119584 RHBDL3 162494 broad.mit.edu 37 17 30603747 30603747 + Intron SNP G A A rs113197244 2011-2263:2012-1327-T g.chr17:30603747G>A uc002hhe.1 + RHBDL3_uc010csw.1_Intron|RHBDL3_uc010csx.1_Intron|RHBDL3_uc010csy.1_Intron|RHBDL3_uc002hhf.1_Intron NM_138328 NP_612201 PRKCA 5578 broad.mit.edu 37 17 64794765 64794765 + Intron SNP G A A 2011-2263:2012-1327-T g.chr17:64794765G>A uc002jfp.1 + NM_002737 NP_002728 PRKCA 5578 broad.mit.edu 37 17 64795452 64795452 + Intron SNP A G G 2011-2263:2012-1327-T g.chr17:64795452A>G uc002jfp.1 + NM_002737 NP_002728 PRKCA 5578 broad.mit.edu 37 17 64795458 64795458 + Intron SNP G A A 2011-2263:2012-1327-T g.chr17:64795458G>A uc002jfp.1 + NM_002737 NP_002728 PRKCA 5578 broad.mit.edu 37 17 64795539 64795539 + Intron SNP G A A 2011-2263:2012-1327-T g.chr17:64795539G>A uc002jfp.1 + NM_002737 NP_002728 SEC14L1 6397 broad.mit.edu 37 17 75212270 75212270 + 3'UTR SNP A C C 2011-2263:2012-1327-T g.chr17:75212270A>C uc002jto.2 + 17 SEC14L1_uc010dhc.2_Intron|SEC14L1_uc010wth.1_3'UTR|SEC14L1_uc002jtm.2_3'UTR|SEC14L1_uc010wti.1_3'UTR NM_003003 NP_002994 TBCD 6904 broad.mit.edu 37 17 80808088 80808088 + Intron SNP G C C rs150127399 2011-2263:2012-1327-T g.chr17:80808088G>C uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 TYMS 7298 broad.mit.edu 37 18 667173 667173 + Intron SNP T A A 2011-2263:2012-1327-T g.chr18:667173T>A uc010dka.1 + TYMS_uc010dkb.1_Intron|TYMS_uc010dkc.1_Intron NM_001071 NP_001062 TYMS 7298 broad.mit.edu 37 18 667245 667245 + Intron SNP T A A 2011-2263:2012-1327-T g.chr18:667245T>A uc010dka.1 + TYMS_uc010dkb.1_Intron|TYMS_uc010dkc.1_Intron NM_001071 NP_001062 TYMS 7298 broad.mit.edu 37 18 667583 667583 + Intron SNP T A A 2011-2263:2012-1327-T g.chr18:667583T>A uc010dka.1 + TYMS_uc010dkb.1_Intron|TYMS_uc010dkc.1_Intron NM_001071 NP_001062 ZNF699 374879 broad.mit.edu 37 19 9407202 9407202 + Missense_Mutation SNP G A A 2011-2263:2012-1327-T g.chr19:9407202G>A uc002mlc.1 - 5 878 c.878C>T c.(877-879)TCG>TTG p.S293L NM_198535 NP_940937 TPRX1 284355 broad.mit.edu 37 19 48305974 48305974 + Silent SNP C T T 2011-2263:2012-1327-T g.chr19:48305974C>T uc002php.1 - 2 365 c.294G>A c.(292-294)CCG>CCA p.P98P NM_198479 NP_940881 PXDN 7837 broad.mit.edu 37 2 1714778 1714778 + Intron SNP C T T 2011-2263:2012-1327-T g.chr2:1714778C>T uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 LTBP1 4052 broad.mit.edu 37 2 33359565 33359565 + Intron SNP G A A rs116713089 by1000genomes 2011-2263:2012-1327-T g.chr2:33359565G>A uc002ros.2 + LTBP1_uc002rot.2_5'Flank|LTBP1_uc002rou.2_5'Flank|LTBP1_uc002rov.2_5'Flank|LTBP1_uc010ymz.1_5'Flank|LTBP1_uc010yna.1_5'Flank NM_206943 NP_996826 RMND5A 64795 broad.mit.edu 37 2 87623792 87623792 + Intron SNP C A A 2011-2263:2012-1327-T g.chr2:87623792C>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87623804 87623804 + Intron SNP A G G 2011-2263:2012-1327-T g.chr2:87623804A>G uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87641998 87641998 + Intron SNP C T T 2011-2263:2012-1327-T g.chr2:87641998C>T uc002srs.3 + TTN 7273 broad.mit.edu 37 2 179399838 179399838 + Missense_Mutation SNP C T T 2011-2263:2012-1327-T g.chr2:179399838C>T uc010zfg.1 - 307 94024 c.93800G>A c.(93799-93801)CGT>CAT p.R31267H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24962H|TTN_uc010zfi.1_Missense_Mutation_p.R24895H|TTN_uc010zfj.1_Missense_Mutation_p.R24770H NM_133378 NP_596869 ATIC 471 broad.mit.edu 37 2 216184482 216184482 + Intron SNP A G G rs16853782 by1000genomes 2011-2263:2012-1327-T g.chr2:216184482A>G uc002vex.3 + ATIC_uc010zjo.1_Intron|ATIC_uc002vey.3_Intron NM_004044 NP_004035 RUNX1 861 broad.mit.edu 37 21 36421908 36421908 + Intron SNP G T T 2011-2263:2012-1327-T g.chr21:36421908G>T uc002yut.1 - RUNX1_uc010gmu.2_5'Flank|RUNX1_uc010gmv.2_5'Flank|RUNX1_uc002yuj.3_5'Flank|RUNX1_uc002yuk.3_5'Flank|RUNX1_uc002yum.1_5'Flank|RUNX1_uc010gmw.1_5'Flank CIDEC 63924 broad.mit.edu 37 3 10035899 10035899 + Intron SNP A C C rs77213366 by1000genomes 2011-2263:2012-1327-T g.chr3:10035899A>C uc003bto.2 - uc003bup.1_Intron|uc003buq.1_Intron PIK3CB 5291 broad.mit.edu 37 3 138474657 138474657 + Silent SNP C A A 2011-2263:2012-1327-T g.chr3:138474657C>A uc011bmq.1 - 2 336 c.336G>T c.(334-336)GTG>GTT p.V112V NM_006219 NP_006210 PIK3CA 5290 broad.mit.edu 37 3 178938871 178938871 + Missense_Mutation SNP C A A 2011-2263:2012-1327-T g.chr3:178938871C>A uc003fjk.2 + 14 2270 c.2113C>A c.(2113-2115)CAA>AAA p.Q705K NM_006218 NP_006209 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A G G rs121913279 2011-2263:2012-1327-T g.chr3:178952085A>G uc003fjk.2 + 21 3297 c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 MUC4 4585 broad.mit.edu 37 3 195504440 195504440 + Intron SNP C G G 2011-2263:2012-1327-T g.chr3:195504440C>G uc011bto.1 - MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 SENP5 205564 broad.mit.edu 37 3 196625766 196625766 + Intron SNP T A A 2011-2263:2012-1327-T g.chr3:196625766T>A uc003fwz.3 + SENP5_uc011bty.1_Intron NM_152699 NP_689912 SORCS2 57537 broad.mit.edu 37 4 7708052 7708052 + Intron SNP T C C 2011-2263:2012-1327-T g.chr4:7708052T>C uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 AFAP1 60312 broad.mit.edu 37 4 7865735 7865735 + Intron SNP T C C 2011-2263:2012-1327-T g.chr4:7865735T>C uc003gkg.1 - AFAP1_uc011bwk.1_Intron NM_198595 NP_940997 AFAP1 60312 broad.mit.edu 37 4 7865856 7865856 + Intron SNP T G G 2011-2263:2012-1327-T g.chr4:7865856T>G uc003gkg.1 - AFAP1_uc011bwk.1_Intron NM_198595 NP_940997 YTHDC1 91746 broad.mit.edu 37 4 69203620 69203620 + Splice_Site SNP T G G 2011-2263:2012-1327-T g.chr4:69203620T>G uc003hdx.2 - 3 484 c.131_splice c.e3-1 p.G44_splice YTHDC1_uc003hdy.2_Splice_Site_p.G44_splice NM_001031732 NP_001026902 CEP72 55722 broad.mit.edu 37 5 648681 648681 + Intron SNP A G G 2011-2263:2012-1327-T g.chr5:648681A>G uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 648695 648695 + Intron SNP C A A 2011-2263:2012-1327-T g.chr5:648695C>A uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649670 649670 + Intron SNP T G G 2011-2263:2012-1327-T g.chr5:649670T>G uc003jbf.2 + NM_018140 NP_060610 SLCO4C1 353189 broad.mit.edu 37 5 101627027 101627027 + Intron SNP T C C rs841929 by1000genomes 2011-2263:2012-1327-T g.chr5:101627027T>C uc003knm.2 - NM_180991 NP_851322 PCDHA8 56140 broad.mit.edu 37 5 140221205 140221205 + Missense_Mutation SNP C T T 2011-2263:2012-1327-T g.chr5:140221205C>T uc003lhs.2 + 1 299 c.299C>T c.(298-300)GCG>GTG p.A100V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A100V NM_018911 NP_061734 DST 667 broad.mit.edu 37 6 56505175 56505175 + Silent SNP T A A rs113432929 byFrequency;by1000genomes 2011-2263:2012-1327-T g.chr6:56505175T>A uc003pdf.2 - 17 2185 c.2157A>T c.(2155-2157)TCA>TCT p.S719S DST_uc003pcz.3_Silent_p.S541S|DST_uc011dxj.1_Silent_p.S570S|DST_uc011dxk.1_Silent_p.S581S|DST_uc011dxl.1_Silent_p.S570S|DST_uc003pcy.3_Silent_p.S215S|DST_uc003pdb.2_Silent_p.S215S|DST_uc003pdc.3_Silent_p.S215S|DST_uc003pdd.3_Silent_p.S215S|DST_uc003pde.2_Silent_p.S657S NM_001144769 NP_001138241 SCML4 256380 broad.mit.edu 37 6 108103869 108103869 + Intron SNP C G G 2011-2263:2012-1327-T g.chr6:108103869C>G uc010kdf.2 - SCML4_uc003prz.3_Intron|SCML4_uc011eam.1_Intron NM_198081 NP_932347 SMOC2 64094 broad.mit.edu 37 6 169015237 169015237 + Intron SNP C T T 2011-2263:2012-1327-T g.chr6:169015237C>T uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 SMOC2 64094 broad.mit.edu 37 6 169015245 169015245 + Intron SNP A G G 2011-2263:2012-1327-T g.chr6:169015245A>G uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 SMOC2 64094 broad.mit.edu 37 6 169015305 169015305 + Intron SNP A G G 2011-2263:2012-1327-T g.chr6:169015305A>G uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 PCLO 27445 broad.mit.edu 37 7 82538241 82538241 + Silent SNP C A A 2011-2263:2012-1327-T g.chr7:82538241C>A uc003uhx.2 - 8 13678 c.13389G>T c.(13387-13389)CTG>CTT p.L4463L PCLO_uc003uhv.2_Silent_p.L4463L NM_033026 NP_149015 PCLO 27445 broad.mit.edu 37 7 82584781 82584781 + Missense_Mutation SNP G C C 2011-2263:2012-1327-T g.chr7:82584781G>C uc003uhx.2 - 5 5777 c.5488C>G c.(5488-5490)CTC>GTC p.L1830V PCLO_uc003uhv.2_Missense_Mutation_p.L1830V NM_033026 NP_149015 PIK3CG 5294 broad.mit.edu 37 7 106508692 106508692 + Missense_Mutation SNP C A A 2011-2263:2012-1327-T g.chr7:106508692C>A uc003vdv.3 + 2 771 c.686C>A c.(685-687)ACC>AAC p.T229N PIK3CG_uc003vdu.2_Missense_Mutation_p.T229N|PIK3CG_uc003vdw.2_Missense_Mutation_p.T229N NM_002649 NP_002640 SLC26A3 1811 broad.mit.edu 37 7 107434897 107434897 + Missense_Mutation SNP C A A 2011-2263:2012-1327-T g.chr7:107434897C>A uc003ver.2 - 2 269 c.58G>T c.(58-60)GCT>TCT p.A20S SLC26A3_uc003ves.2_Missense_Mutation_p.M1I NM_000111 NP_000102 BRAF 673 broad.mit.edu 37 7 140449071 140449071 + Intron SNP C G G rs3789806 by1000genomes 2011-2263:2012-1327-T g.chr7:140449071C>G uc003vwc.3 - NM_004333 NP_004324 PTPRN2 5799 broad.mit.edu 37 7 158144667 158144667 + Intron SNP C T T 2011-2263:2012-1327-T g.chr7:158144667C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158200046 158200046 + Intron SNP G T T 2011-2263:2012-1327-T g.chr7:158200046G>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158234463 158234463 + Intron SNP C T T 2011-2263:2012-1327-T g.chr7:158234463C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ZFHX4 79776 broad.mit.edu 37 8 77766208 77766208 + Missense_Mutation SNP G C C 2011-2263:2012-1327-T g.chr8:77766208G>C uc003yav.2 + 10 7303 c.6916G>C c.(6916-6918)GAC>CAC p.D2306H ZFHX4_uc003yau.1_Missense_Mutation_p.D2351H|ZFHX4_uc003yaw.1_Missense_Mutation_p.D2306H NM_024721 NP_078997 UBR5 51366 broad.mit.edu 37 8 103289330 103289330 + Missense_Mutation SNP C A A rs141886654 byFrequency 2011-2263:2012-1327-T g.chr8:103289330C>A uc003ykr.1 - 45 6412 c.6379G>T c.(6379-6381)GTG>TTG p.V2127L UBR5_uc003yks.1_Missense_Mutation_p.V2127L NM_015902 NP_056986 ZNF16 7564 broad.mit.edu 37 8 146172189 146172189 + Intron SNP C T T 2011-2263:2012-1327-T g.chr8:146172189C>T uc003zet.2 - ZNF16_uc003zeu.2_Intron NM_001029976 NP_001025147 MELK 9833 broad.mit.edu 37 9 36643131 36643131 + Intron SNP A G G rs9298970 by1000genomes 2011-2263:2012-1327-T g.chr9:36643131A>G uc003zzn.2 + MELK_uc011lpm.1_Intron|MELK_uc011lpn.1_Intron|MELK_uc011lpo.1_Intron|MELK_uc010mll.2_Intron|MELK_uc011lpp.1_Intron|MELK_uc010mlm.2_Intron|MELK_uc011lpq.1_Intron|MELK_uc011lpr.1_Intron|MELK_uc011lps.1_Intron NM_014791 NP_055606 PBX3 5090 broad.mit.edu 37 9 128728459 128728459 + 3'UTR SNP A G G rs11792585 by1000genomes 2011-2263:2012-1327-T g.chr9:128728459A>G uc004bqb.2 + 9 PBX3_uc004bqc.2_3'UTR|PBX3_uc004bqd.2_3'UTR|PBX3_uc011lzw.1_3'UTR|PBX3_uc011lzx.1_3'UTR|PBX3_uc004bqe.2_3'UTR NM_006195 NP_006186 PRDM16 63976 broad.mit.edu 37 1 3082438 3082438 + Intron SNP A T T rs78749930 by1000genomes 2011-2264:2012-371-T g.chr1:3082438A>T uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 KCNAB2 8514 broad.mit.edu 37 1 6081702 6081702 + Intron SNP G C C 2011-2264:2012-371-T g.chr1:6081702G>C uc009vlv.1 + NM_003636 NP_003627 AFAP1L2 84632 broad.mit.edu 37 10 116065402 116065402 + Intron SNP A G G rs116574255 by1000genomes 2011-2264:2012-371-T g.chr10:116065402A>G uc001lbn.2 - AFAP1L2_uc001lbo.2_Intron|AFAP1L2_uc010qse.1_Intron|AFAP1L2_uc001lbp.2_Intron|AFAP1L2_uc001lbr.1_Intron|AFAP1L2_uc010qsd.1_5'Flank NM_001001936 NP_001001936 JAKMIP3 282973 broad.mit.edu 37 10 133973896 133973896 + Intron SNP T C C 2011-2264:2012-371-T g.chr10:133973896T>C uc001lkx.3 + JAKMIP3_uc009yba.1_Intron NM_001105521 NP_001098991 JAKMIP3 282973 broad.mit.edu 37 10 133973899 133973899 + Intron SNP A G G 2011-2264:2012-371-T g.chr10:133973899A>G uc001lkx.3 + JAKMIP3_uc009yba.1_Intron NM_001105521 NP_001098991 CCND2 894 broad.mit.edu 37 12 4383118 4383118 + 5'UTR SNP G C C 2011-2264:2012-371-T g.chr12:4383118G>C uc001qmo.2 + 1 NM_001759 NP_001750 NRXN3 9369 broad.mit.edu 37 14 79175597 79175597 + Missense_Mutation SNP C G G 2011-2264:2012-371-T g.chr14:79175597C>G uc001xun.2 + 4 631 c.140C>G c.(139-141)TCT>TGT p.S47C NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.S181C NM_004796 NP_004787 BAIAP3 8938 broad.mit.edu 37 16 1389947 1389947 + Intron SNP C T T 2011-2264:2012-371-T g.chr16:1389947C>T uc002clk.1 + BAIAP3_uc002clj.2_Intron|BAIAP3_uc010uuz.1_Intron|BAIAP3_uc010uva.1_Intron|BAIAP3_uc010uvb.1_Intron|BAIAP3_uc010uvc.1_Intron NM_003933 NP_003924 CORO7 79585 broad.mit.edu 37 16 4394330 4394330 + Intron SNP C T T 2011-2264:2012-371-T g.chr16:4394330C>T uc002cwf.2 - CORO7_uc002cwe.2_Intron|TIMM16_uc002cwd.2_Intron NM_024535 NP_078811 ANKRD11 29123 broad.mit.edu 37 16 89366288 89366288 + Intron SNP C T T 2011-2264:2012-371-T g.chr16:89366288C>T uc002fmx.1 - ANKRD11_uc002fmy.1_Intron|ANKRD11_uc002fnc.1_Intron|ANKRD11_uc002fnd.2_Intron|ANKRD11_uc002fne.2_Intron|ANKRD11_uc002fng.1_3'UTR|ANKRD11_uc002fnf.1_3'UTR NM_013275 NP_037407 TCF25 22980 broad.mit.edu 37 16 89951520 89951520 + Intron SNP C G G 2011-2264:2012-371-T g.chr16:89951520C>G uc002fpb.2 + TCF25_uc002fpc.2_Intron NM_014972 NP_055787 LRRC37B 114659 broad.mit.edu 37 17 30380292 30380292 + Nonsense_Mutation SNP C G G 2011-2264:2012-371-T g.chr17:30380292C>G uc002hgu.2 + 12 2800 c.2789C>G c.(2788-2790)TCA>TGA p.S930* LRRC37B_uc010wbx.1_Nonsense_Mutation_p.S848*|LRRC37B_uc010csu.2_Nonsense_Mutation_p.S879* NM_052888 NP_443120 PRKCA 5578 broad.mit.edu 37 17 64794963 64794963 + Intron SNP G A A 2011-2264:2012-371-T g.chr17:64794963G>A uc002jfp.1 + NM_002737 NP_002728 RMND5A 64795 broad.mit.edu 37 2 87634306 87634306 + Intron SNP G A A 2011-2264:2012-371-T g.chr2:87634306G>A uc002srs.3 + CASP8 841 broad.mit.edu 37 2 202126615 202126615 + Intron SNP A G G rs1861270 by1000genomes 2011-2264:2012-371-T g.chr2:202126615A>G uc002uxr.1 + CASP8_uc010ftc.1_Intron|CASP8_uc002uxo.1_Intron|CASP8_uc002uxp.1_Intron|CASP8_uc002uxq.1_Intron|CASP8_uc002uxs.1_Intron|CASP8_uc002uxt.1_Intron|CASP8_uc002uxu.1_Intron|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Intron|CASP8_uc002uxw.1_Intron NM_033355 NP_203519 EPHA4 2043 broad.mit.edu 37 2 222347021 222347021 + Intron SNP C A A 2011-2264:2012-371-T g.chr2:222347021C>A uc002vmq.2 - EPHA4_uc002vmr.2_Intron|EPHA4_uc010zlm.1_Intron|EPHA4_uc010zln.1_Intron NM_004438 NP_004429 GPR35 2859 broad.mit.edu 37 2 241562822 241562822 + Intron SNP C T T rs62187256 2011-2264:2012-371-T g.chr2:241562822C>T uc010fzh.1 + GPR35_uc010fzi.1_Intron NM_005301 NP_005292 BMP7 655 broad.mit.edu 37 20 55794003 55794003 + Intron SNP A C C rs36125547 by1000genomes 2011-2264:2012-371-T g.chr20:55794003A>C uc010gip.1 - BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Intron NM_001719 NP_001710 MYT1 4661 broad.mit.edu 37 20 62867432 62867432 + Intron SNP G C C rs35828584 2011-2264:2012-371-T g.chr20:62867432G>C uc002yii.2 + MYT1_uc002yij.2_Intron NM_004535 NP_004526 DSCAM 1826 broad.mit.edu 37 21 41447203 41447203 + Intron SNP G A A 2011-2264:2012-371-T g.chr21:41447203G>A uc002yyq.1 - DSCAM_uc002yyr.1_Intron NM_001389 NP_001380 TRPM2 7226 broad.mit.edu 37 21 45815824 45815824 + Intron SNP G A A rs117963804 by1000genomes 2011-2264:2012-371-T g.chr21:45815824G>A uc002zet.1 + TRPM2_uc002zeu.1_Intron|TRPM2_uc002zew.1_Intron|TRPM2_uc010gpt.1_Intron|TRPM2_uc002zex.1_Intron|TRPM2_uc002zey.1_Intron NM_003307 NP_003298 BBX 56987 broad.mit.edu 37 3 107491532 107491532 + Missense_Mutation SNP G C C 2011-2264:2012-371-T g.chr3:107491532G>C uc010hpr.2 + 11 1291 c.964G>C c.(964-966)GAA>CAA p.E322Q BBX_uc003dwk.3_Missense_Mutation_p.E322Q|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.E343Q|BBX_uc003dwm.3_Missense_Mutation_p.E322Q|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 BBX 56987 broad.mit.edu 37 3 107492402 107492402 + Missense_Mutation SNP G A A 2011-2264:2012-371-T g.chr3:107492402G>A uc010hpr.2 + 11 2161 c.1834G>A c.(1834-1836)GAG>AAG p.E612K BBX_uc003dwk.3_Missense_Mutation_p.E612K|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.E633K|BBX_uc003dwm.3_Missense_Mutation_p.E612K|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 CHCHD6 84303 broad.mit.edu 37 3 126581313 126581313 + Intron SNP C T T 2011-2264:2012-371-T g.chr3:126581313C>T uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 PPP2R2C 5522 broad.mit.edu 37 4 6513597 6513597 + Intron SNP G A A 2011-2264:2012-371-T g.chr4:6513597G>A uc011bwd.1 - PPP2R2C_uc011bwe.1_Intron NM_181876 NP_870991 INPP4B 8821 broad.mit.edu 37 4 143395159 143395159 + Intron SNP C T T 2011-2264:2012-371-T g.chr4:143395159C>T uc003iix.3 - INPP4B_uc003iiw.3_Intron|INPP4B_uc011cho.1_Intron|INPP4B_uc003iiz.2_Intron NM_003866 NP_003857 BPHL 670 broad.mit.edu 37 6 3146166 3146166 + Intron SNP T G G 2011-2264:2012-371-T g.chr6:3146166T>G uc003mva.2 + BPHL_uc003muz.2_Intron|BPHL_uc011dht.1_Intron|BPHL_uc003muy.2_Intron NM_004332 NP_004323 HLA-G 3135 broad.mit.edu 37 6 29795809 29795809 + Intron SNP C T T rs113309697 2011-2264:2012-371-T g.chr6:29795809C>T uc003nnw.2 + HLA-G_uc011dmb.1_5'Flank|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 HLA-B 3106 broad.mit.edu 37 6 31322688 31322688 + Intron SNP T C C rs2596498 byFrequency;by1000genomes 2011-2264:2012-371-T g.chr6:31322688T>C uc003nth.2 - HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Intron|HLA-B_uc003nti.1_Intron NM_005514 NP_005505 COQ3 51805 broad.mit.edu 37 6 99842451 99842451 + 5'Flank SNP A C C rs9389319 by1000genomes 2011-2264:2012-371-T g.chr6:99842451A>C uc003ppk.2 - NM_017421 NP_059117 SYNE1 23345 broad.mit.edu 37 6 152546740 152546740 + Intron SNP G A A rs1998620 by1000genomes 2011-2264:2012-371-T g.chr6:152546740G>A uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152782933 152782933 + Intron SNP G A A rs579464 by1000genomes 2011-2264:2012-371-T g.chr6:152782933G>A uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qow.2_Intron|SYNE1_uc003qox.1_Intron|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Intron NM_182961 NP_892006 DLGAP2 9228 broad.mit.edu 37 8 1591683 1591683 + Intron SNP C G G 2011-2264:2012-371-T g.chr8:1591683C>G uc003wpl.2 + DLGAP2_uc003wpm.2_Intron NM_004745 NP_004736 TEX15 56154 broad.mit.edu 37 8 30707054 30707054 + 5'Flank SNP T C C rs74899836 by1000genomes 2011-2264:2012-371-T g.chr8:30707054T>C uc003xil.2 - TEX15_uc011lbc.1_Intron NM_031271 NP_112561 HOOK3 84376 broad.mit.edu 37 8 42805433 42805433 + Intron SNP C A A 2011-2264:2012-371-T g.chr8:42805433C>A uc003xpr.2 + HOOK3_uc010lxq.1_Intron NM_032410 NP_115786 PARP10 84875 broad.mit.edu 37 8 145055720 145055720 + Intron SNP A G G 2011-2264:2012-371-T g.chr8:145055720A>G uc003zal.3 - PARP10_uc003zak.3_Intron|PARP10_uc011lku.1_Intron|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Intron NM_032789 NP_116178 HEATR7A 727957 broad.mit.edu 37 8 145288295 145288295 + Intron SNP C A A rs11779369 2011-2264:2012-371-T g.chr8:145288295C>A uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 NOTCH2 4853 broad.mit.edu 37 1 120497487 120497487 + Intron SNP G A A 2011-2265:2012-367-T g.chr1:120497487G>A uc001eik.2 - NOTCH2_uc001eil.2_Intron|NOTCH2_uc001eim.3_Intron NM_024408 NP_077719 KIF21B 23046 broad.mit.edu 37 1 200976351 200976351 + Intron SNP C G G 2011-2265:2012-367-T g.chr1:200976351C>G uc001gvs.1 - KIF21B_uc001gvr.1_Intron|KIF21B_uc009wzl.1_Intron|KIF21B_uc010ppn.1_Intron|KIF21B_uc001gvt.1_5'Flank NM_017596 NP_060066 PCDH15 65217 broad.mit.edu 37 10 56424053 56424053 + Intron SNP G A A 2011-2265:2012-367-T g.chr10:56424053G>A uc001jju.1 - PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Intron|PCDH15_uc010qhw.1_Intron|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhy.1_Intron|PCDH15_uc010qhz.1_Intron|PCDH15_uc010qia.1_Intron|PCDH15_uc010qib.1_Intron|PCDH15_uc001jjw.2_Intron NM_033056 NP_149045 FGFR2 2263 broad.mit.edu 37 10 123239254 123239254 + 3'UTR SNP A C C 2011-2265:2012-367-T g.chr10:123239254A>C uc010qtk.1 - 19 FGFR2_uc010qtg.1_3'UTR|FGFR2_uc010qth.1_3'UTR|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_3'UTR|FGFR2_uc010qtl.1_3'UTR|FGFR2_uc010qtm.1_3'UTR|FGFR2_uc001lfg.3_3'UTR NM_000141 NP_000132 GPR123 84435 broad.mit.edu 37 10 134892467 134892467 + Intron SNP C T T 2011-2265:2012-367-T g.chr10:134892467C>T uc001llw.2 + BRSK2 9024 broad.mit.edu 37 11 1415531 1415531 + Intron SNP C T T 2011-2265:2012-367-T g.chr11:1415531C>T uc001lti.2 + BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001ltj.2_Intron|BRSK2_uc001ltk.2_Intron|BRSK2_uc001ltl.2_Intron NM_003957 NP_003948 EPS8 2059 broad.mit.edu 37 12 15823836 15823836 + Missense_Mutation SNP C T T 2011-2265:2012-367-T g.chr12:15823836C>T uc009zif.2 - 4 252 c.158G>A c.(157-159)CGG>CAG p.R53Q EPS8_uc001rdb.2_Missense_Mutation_p.R53Q|EPS8_uc009zig.2_5'UTR NM_004447 NP_004438 GLI1 2735 broad.mit.edu 37 12 57865613 57865613 + Silent SNP A G G 2011-2265:2012-367-T g.chr12:57865613A>G uc001snx.2 + 12 3168 c.3090A>G c.(3088-3090)GAA>GAG p.E1030E GLI1_uc009zpq.2_Silent_p.E902E NM_005269 NP_005260 C12orf51 283450 broad.mit.edu 37 12 112734920 112734920 + Intron SNP G A A 2011-2265:2012-367-T g.chr12:112734920G>A uc009zwc.2 - NM_001109662 NP_001103132 RIMBP2 23504 broad.mit.edu 37 12 131068906 131068906 + Intron SNP T C C 2011-2265:2012-367-T g.chr12:131068906T>C uc001uim.2 - COL4A2 1284 broad.mit.edu 37 13 111134145 111134145 + Intron SNP C T T rs137896261 2011-2265:2012-367-T g.chr13:111134145C>T uc001vqx.2 + NM_001846 NP_001837 COL4A2 1284 broad.mit.edu 37 13 111134149 111134149 + Intron SNP G A A 2011-2265:2012-367-T g.chr13:111134149G>A uc001vqx.2 + NM_001846 NP_001837 COL4A2 1284 broad.mit.edu 37 13 111134167 111134167 + Intron SNP C T T rs112843286 by1000genomes 2011-2265:2012-367-T g.chr13:111134167C>T uc001vqx.2 + NM_001846 NP_001837 F7 2155 broad.mit.edu 37 13 113763278 113763278 + Intron SNP G A A 2011-2265:2012-367-T g.chr13:113763278G>A uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 TFDP1 7027 broad.mit.edu 37 13 114280126 114280126 + Intron SNP T C C 2011-2265:2012-367-T g.chr13:114280126T>C uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 NIN 51199 broad.mit.edu 37 14 51192544 51192544 + Intron SNP C A A 2011-2265:2012-367-T g.chr14:51192544C>A uc001wyi.2 - NIN_uc001wyj.2_Intron NM_020921 NP_065972 NIN 51199 broad.mit.edu 37 14 51223188 51223188 + Intron SNP G A A 2011-2265:2012-367-T g.chr14:51223188G>A uc001wym.2 - NIN_uc001wyi.2_Intron|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Intron|NIN_uc001wyo.2_Intron NM_182946 NP_891991 SYNE2 23224 broad.mit.edu 37 14 64580300 64580300 + Intron SNP G A A 2011-2265:2012-367-T g.chr14:64580300G>A uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc010apz.1_Intron NM_015180 NP_055995 PPP4R4 57718 broad.mit.edu 37 14 94700920 94700920 + Silent SNP T A A 2011-2265:2012-367-T g.chr14:94700920T>A uc001ycs.1 + 7 799 c.645T>A c.(643-645)CCT>CCA p.P215P NM_058237 NP_478144 HERC2 8924 broad.mit.edu 37 15 28362088 28362088 + Intron SNP T A A 2011-2265:2012-367-T g.chr15:28362088T>A uc001zbj.2 - HERC2_uc001zbi.2_Intron NM_004667 NP_004658 BLM 641 broad.mit.edu 37 15 91304132 91304132 + Missense_Mutation SNP G A A 2011-2265:2012-367-T g.chr15:91304132G>A uc002bpr.2 + 7 1626 c.1529G>A c.(1528-1530)AGA>AAA p.R510K BLM_uc010uqh.1_Missense_Mutation_p.R510K|BLM_uc010uqi.1_Missense_Mutation_p.R135K|BLM_uc010bnx.2_Missense_Mutation_p.R510K|BLM_uc002bps.1_Missense_Mutation_p.R72K NM_000057 NP_000048 DNAH3 55567 broad.mit.edu 37 16 21030982 21030982 + Missense_Mutation SNP C A A 2011-2265:2012-367-T g.chr16:21030982C>A uc010vbe.1 - 41 5986 c.5986G>T c.(5986-5988)GTC>TTC p.V1996F NM_017539 NP_060009 TP53 7157 broad.mit.edu 37 17 7577525 7577525 + Silent SNP G C C 2011-2265:2012-367-T g.chr17:7577525G>C uc002gim.2 - 7 950 c.756C>G c.(754-756)CTC>CTG p.L252L TP53_uc002gig.1_Silent_p.L252L|TP53_uc002gih.2_Silent_p.L252L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Silent_p.L120L|TP53_uc010cng.1_Silent_p.L120L|TP53_uc002gii.1_Silent_p.L120L|TP53_uc010cnh.1_Silent_p.L252L|TP53_uc010cni.1_Silent_p.L252L|TP53_uc002gij.2_Silent_p.L252L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Silent_p.L159L|TP53_uc002gio.2_Silent_p.L120L NM_001126112 NP_001119584 WRAP53 55135 broad.mit.edu 37 17 7590693 7590693 + Intron SNP A C C 2011-2265:2012-367-T g.chr17:7590693A>C uc010vuh.1 + WRAP53_uc010vui.1_5'Flank|WRAP53_uc002gip.2_5'Flank|WRAP53_uc002gir.2_5'Flank|WRAP53_uc002giq.2_5'Flank|WRAP53_uc010cnl.2_5'Flank|TP53_uc010cnh.1_Intron|TP53_uc010cni.1_Intron|TP53_uc002gim.2_Intron|TP53_uc002gij.2_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Intron|TP53_uc010cnk.1_Intron NM_001143990 NP_001137462 BRIP1 83990 broad.mit.edu 37 17 59761356 59761356 + Silent SNP C T T 2011-2265:2012-367-T g.chr17:59761356C>T uc002izk.1 - 20 3192 c.3051G>A c.(3049-3051)CCG>CCA p.P1017P NM_032043 NP_114432 PRKCA 5578 broad.mit.edu 37 17 64795350 64795350 + Intron SNP G A A 2011-2265:2012-367-T g.chr17:64795350G>A uc002jfp.1 + NM_002737 NP_002728 PRKCA 5578 broad.mit.edu 37 17 64795473 64795473 + Intron SNP G A A 2011-2265:2012-367-T g.chr17:64795473G>A uc002jfp.1 + NM_002737 NP_002728 PRCD 768206 broad.mit.edu 37 17 74522966 74522966 + 5'Flank SNP C G G 2011-2265:2012-367-T g.chr17:74522966C>G uc002jrw.1 + TBCD 6904 broad.mit.edu 37 17 80806808 80806808 + Intron SNP C T T 2011-2265:2012-367-T g.chr17:80806808C>T uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 SLC14A2 8170 broad.mit.edu 37 18 42897919 42897919 + Intron SNP G A A 2011-2265:2012-367-T g.chr18:42897919G>A uc010dnj.2 + SLC14A2_uc002lbb.2_Intron NM_007163 NP_009094 AP3D1 8943 broad.mit.edu 37 19 2104055 2104055 + Intron SNP G A A 2011-2265:2012-367-T g.chr19:2104055G>A uc002luz.2 - AP3D1_uc010dsv.2_Intron|AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Intron NM_003938 NP_003929 TPRX1 284355 broad.mit.edu 37 19 48305974 48305974 + Silent SNP C T T 2011-2265:2012-367-T g.chr19:48305974C>T uc002php.1 - 2 365 c.294G>A c.(292-294)CCG>CCA p.P98P NM_198479 NP_940881 BCL11A 53335 broad.mit.edu 37 2 60694306 60694306 + Intron SNP G A A 2011-2265:2012-367-T g.chr2:60694306G>A uc002sae.1 - BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Intron|BCL11A_uc002sad.1_Intron|BCL11A_uc002saf.1_Intron NM_022893 NP_075044 BCL11A 53335 broad.mit.edu 37 2 60694317 60694317 + Intron SNP G A A 2011-2265:2012-367-T g.chr2:60694317G>A uc002sae.1 - BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Intron|BCL11A_uc002sad.1_Intron|BCL11A_uc002saf.1_Intron NM_022893 NP_075044 BCL11A 53335 broad.mit.edu 37 2 60694324 60694324 + Intron SNP A G G 2011-2265:2012-367-T g.chr2:60694324A>G uc002sae.1 - BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Intron|BCL11A_uc002sad.1_Intron|BCL11A_uc002saf.1_Intron NM_022893 NP_075044 MICAL3 57553 broad.mit.edu 37 22 18359674 18359674 + Intron SNP T G G rs141877893 2011-2265:2012-367-T g.chr22:18359674T>G uc002zng.3 - MICAL3_uc011agl.1_Intron|MICAL3_uc002znh.2_Intron|MICAL3_uc002znj.1_Intron|MICAL3_uc002znk.1_Intron|MICAL3_uc002znl.1_Intron|MICAL3_uc002znm.2_Intron|MICAL3_uc010grf.2_Intron NM_015241 NP_056056 CHCHD6 84303 broad.mit.edu 37 3 126581313 126581313 + Intron SNP C T T 2011-2265:2012-367-T g.chr3:126581313C>T uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 MECOM 2122 broad.mit.edu 37 3 168865289 168865289 + 5'Flank SNP A C C 2011-2265:2012-367-T g.chr3:168865289A>C uc003ffi.3 - MECOM_uc003ffj.3_5'Flank|MECOM_uc011bpi.1_5'Flank|MECOM_uc003ffn.3_5'Flank|MECOM_uc003ffk.2_Translation_Start_Site|MECOM_uc003ffl.2_Intron|MECOM_uc011bpj.1_Intron|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Intron|MECOM_uc003ffm.1_5'Flank|MECOM_uc003ffo.1_5'Flank NM_005241 NP_005232 MUC4 4585 broad.mit.edu 37 3 195502339 195502339 + Intron SNP A G G 2011-2265:2012-367-T g.chr3:195502339A>G uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 SORCS2 57537 broad.mit.edu 37 4 7708025 7708025 + Intron SNP T C C 2011-2265:2012-367-T g.chr4:7708025T>C uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 KDR 3791 broad.mit.edu 37 4 55984793 55984793 + Silent SNP C T T 2011-2265:2012-367-T g.chr4:55984793C>T uc003has.2 - 3 638 c.336G>A c.(334-336)TCG>TCA p.S112S KDR_uc003hat.1_Silent_p.S112S|KDR_uc011bzx.1_Silent_p.S112S NM_002253 NP_002244 INPP4B 8821 broad.mit.edu 37 4 143305119 143305119 + Intron SNP G A A 2011-2265:2012-367-T g.chr4:143305119G>A uc003iix.3 - INPP4B_uc003iiw.3_Intron|INPP4B_uc011chm.1_Intron|INPP4B_uc011cho.1_Intron NM_003866 NP_003857 FBXW7 55294 broad.mit.edu 37 4 153251907 153251907 + Nonsense_Mutation SNP G A A 2011-2265:2012-367-T g.chr4:153251907G>A uc003ims.2 - 7 1248 c.1099C>T c.(1099-1101)CGA>TGA p.R367* FBXW7_uc011cii.1_Nonsense_Mutation_p.R367*|FBXW7_uc003imt.2_Nonsense_Mutation_p.R367*|FBXW7_uc011cih.1_Nonsense_Mutation_p.R191*|FBXW7_uc003imq.2_Nonsense_Mutation_p.R287*|FBXW7_uc003imr.2_Nonsense_Mutation_p.R249* NM_033632 NP_361014 CDH12 1010 broad.mit.edu 37 5 21751890 21751890 + Missense_Mutation SNP T A A 2011-2265:2012-367-T g.chr5:21751890T>A uc010iuc.2 - 12 2799 c.2341A>T c.(2341-2343)ATG>TTG p.M781L CDH12_uc011cno.1_Missense_Mutation_p.M741L|CDH12_uc003jgk.2_Missense_Mutation_p.M781L|uc003jgj.2_Intron NM_004061 NP_004052 SYNE1 23345 broad.mit.edu 37 6 152614802 152614802 + Missense_Mutation SNP T A A 2011-2265:2012-367-T g.chr6:152614802T>A uc010kiw.2 - 95 18535 c.17933A>T c.(17932-17934)AAG>ATG p.K5978M SYNE1_uc010kiv.2_Missense_Mutation_p.K502M|SYNE1_uc003qos.3_Missense_Mutation_p.K502M|SYNE1_uc003qot.3_Missense_Mutation_p.K5907M|SYNE1_uc003qou.3_Missense_Mutation_p.K5978M|SYNE1_uc010kiy.1_Missense_Mutation_p.K153M NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152748654 152748654 + Intron SNP C T T 2011-2265:2012-367-T g.chr6:152748654C>T uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152804488 152804488 + Intron SNP G T T 2011-2265:2012-367-T g.chr6:152804488G>T uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qpa.1_Intron|SYNE1_uc003qox.1_5'Flank NM_182961 NP_892006 CARD11 84433 broad.mit.edu 37 7 2985391 2985391 + Intron SNP C G G 2011-2265:2012-367-T g.chr7:2985391C>G uc003smv.2 - NM_032415 NP_115791 COL1A2 1278 broad.mit.edu 37 7 94023567 94023567 + 5'Flank SNP C A A 2011-2265:2012-367-T g.chr7:94023567C>A uc003ung.1 + COL1A2_uc011kib.1_5'Flank NM_000089 NP_000080 TRRAP 8295 broad.mit.edu 37 7 98479661 98479661 + Intron SNP A G G 2011-2265:2012-367-T g.chr7:98479661A>G uc003upp.2 + TRRAP_uc011kis.1_Intron NM_003496 NP_003487 GRM8 2918 broad.mit.edu 37 7 126892334 126892334 + 5'UTR SNP C T T 2011-2265:2012-367-T g.chr7:126892334C>T uc003vlt.2 - 1 GRM8_uc010lkz.1_Intron NM_001127323 NP_001120795 GRM8 2918 broad.mit.edu 37 7 126892799 126892799 + Intron SNP C T T 2011-2265:2012-367-T g.chr7:126892799C>T uc010lkz.1 - GRM8_uc003vlt.2_5'Flank NM_001127323 WDR86 349136 broad.mit.edu 37 7 151094746 151094746 + Intron SNP C T T 2011-2265:2012-367-T g.chr7:151094746C>T uc003wkb.2 - WDR86_uc003wka.2_Intron|WDR86_uc011kvk.1_Intron|WDR86_uc003wkc.2_Intron NM_198285 NP_938026 MLL3 58508 broad.mit.edu 37 7 151874003 151874003 + Missense_Mutation SNP A T T 2011-2265:2012-367-T g.chr7:151874003A>T uc003wla.2 - 38 8754 c.8535T>A c.(8533-8535)AAT>AAA p.N2845K MLL3_uc003wkz.2_Missense_Mutation_p.N1906K|MLL3_uc003wky.2_Missense_Mutation_p.N354K NM_170606 NP_733751 PKHD1L1 93035 broad.mit.edu 37 8 110491814 110491814 + Nonsense_Mutation SNP C T T 2011-2265:2012-367-T g.chr8:110491814C>T uc003yne.2 + 54 9228 c.9124C>T c.(9124-9126)CGA>TGA p.R3042* NM_177531 NP_803875 CSMD3 114788 broad.mit.edu 37 8 113326781 113326781 + Missense_Mutation SNP C G G 2011-2265:2012-367-T g.chr8:113326781C>G uc003ynu.2 - 48 7585 c.7426G>C c.(7426-7428)GAC>CAC p.D2476H CSMD3_uc003yns.2_Missense_Mutation_p.D1678H|CSMD3_uc003ynt.2_Missense_Mutation_p.D2436H|CSMD3_uc011lhx.1_Missense_Mutation_p.D2372H|CSMD3_uc003ynw.1_Missense_Mutation_p.D187H NM_198123 NP_937756 PLEC 5339 broad.mit.edu 37 8 144995072 144995072 + Missense_Mutation SNP A T T 2011-2265:2012-367-T g.chr8:144995072A>T uc003zaf.1 - 32 9498 c.9328T>A c.(9328-9330)TGC>AGC p.C3110S PLEC_uc003zab.1_Missense_Mutation_p.C2973S|PLEC_uc003zac.1_Missense_Mutation_p.C2977S|PLEC_uc003zad.2_Missense_Mutation_p.C2973S|PLEC_uc003zae.1_Missense_Mutation_p.C2941S|PLEC_uc003zag.1_Missense_Mutation_p.C2951S|PLEC_uc003zah.2_Missense_Mutation_p.C2959S|PLEC_uc003zaj.2_Missense_Mutation_p.C3000S NM_201380 NP_958782 ABL1 25 broad.mit.edu 37 9 133750375 133750375 + Silent SNP C A A 2011-2265:2012-367-T g.chr9:133750375C>A uc004bzw.2 + 7 1209 c.1206C>A c.(1204-1206)CCC>CCA p.P402P ABL1_uc004bzv.2_Silent_p.P421P NM_005157 NP_005148 ODZ1 10178 broad.mit.edu 37 X 124030109 124030109 + Intron SNP C G G 2011-2265:2012-367-T g.chrX:124030109C>G uc004euj.2 - ODZ1_uc011muj.1_Intron|ODZ1_uc010nqy.2_Intron NM_014253 NP_055068 TPM3 7170 broad.mit.edu 37 1 154165082 154165082 + 5'Flank SNP C A A 2011-2266:2012-3270-T g.chr1:154165082C>A uc001fec.1 - NM_152263 NP_689476 ABL2 27 broad.mit.edu 37 1 179084072 179084072 + Missense_Mutation SNP C A A 2011-2266:2012-3270-T g.chr1:179084072C>A uc001gmj.3 - 9 1789 c.1502G>T c.(1501-1503)GGA>GTA p.G501V ABL2_uc010pnf.1_Missense_Mutation_p.G501V|ABL2_uc010png.1_Missense_Mutation_p.G480V|ABL2_uc010pnh.1_Missense_Mutation_p.G480V|ABL2_uc009wxe.2_Missense_Mutation_p.G480V|ABL2_uc001gmg.3_Missense_Mutation_p.G486V|ABL2_uc001gmi.3_Missense_Mutation_p.G486V|ABL2_uc001gmh.3_Missense_Mutation_p.G465V|ABL2_uc010pne.1_Missense_Mutation_p.G465V NM_007314 NP_009298 SMYD3 64754 broad.mit.edu 37 1 246139539 246139539 + Intron SNP C T T 2011-2266:2012-3270-T g.chr1:246139539C>T uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 SMYD3 64754 broad.mit.edu 37 1 246139683 246139683 + Intron SNP C T T 2011-2266:2012-3270-T g.chr1:246139683C>T uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 C10orf11 83938 broad.mit.edu 37 10 77732782 77732782 + Intron SNP G A A rs71651051 2011-2266:2012-3270-T g.chr10:77732782G>A uc001jxi.2 + NM_032024 NP_114413 OR5L2 26338 broad.mit.edu 37 11 55595015 55595015 + Silent SNP T C C 2011-2266:2012-3270-T g.chr11:55595015T>C uc001nhy.1 + 1 321 c.321T>C c.(319-321)TGT>TGC p.C107C NM_001004739 NP_001004739 LRTOMT 220074 broad.mit.edu 37 11 71792011 71792011 + Intron SNP C A A 2011-2266:2012-3270-T g.chr11:71792011C>A uc001orr.2 + NUMA1_uc001ork.1_5'Flank|NUMA1_uc001orl.1_5'Flank|NUMA1_uc001orm.1_5'Flank|NUMA1_uc001oro.1_5'Flank|NUMA1_uc001orq.2_5'Flank|LRTOMT_uc009ysz.2_Intron|LRTOMT_uc010rqt.1_Intron|LRTOMT_uc010rqu.1_Intron|LRTOMT_uc009yta.2_Intron|LRTOMT_uc010rqv.1_Intron|LRTOMT_uc010rqw.1_Intron|LRTOMT_uc001ors.3_Intron|LRTOMT_uc010rqs.1_Intron NM_145309 NP_660352 GPR133 283383 broad.mit.edu 37 12 131530879 131530879 + Intron SNP G A A rs147962069 by1000genomes 2011-2266:2012-3270-T g.chr12:131530879G>A uc001uit.3 + GPR133_uc010tbm.1_Intron NM_198827 NP_942122 GPC5 2262 broad.mit.edu 37 13 93518480 93518480 + Intron SNP C T T 2011-2266:2012-3270-T g.chr13:93518480C>T uc010tif.1 + NM_004466 NP_004457 F7 2155 broad.mit.edu 37 13 113761605 113761605 + Intron SNP A G G 2011-2266:2012-3270-T g.chr13:113761605A>G uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 F7 2155 broad.mit.edu 37 13 113761639 113761639 + Intron SNP A G G 2011-2266:2012-3270-T g.chr13:113761639A>G uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 NTRK3 4916 broad.mit.edu 37 15 88472544 88472544 + Missense_Mutation SNP C T T 2011-2266:2012-3270-T g.chr15:88472544C>T uc002bme.1 - 16 2173 c.2011G>A c.(2011-2013)GCC>ACC p.A671T NTRK3_uc002bmh.2_Missense_Mutation_p.A663T|NTRK3_uc002bmf.1_Missense_Mutation_p.A671T|NTRK3_uc010upl.1_Missense_Mutation_p.A573T|NTRK3_uc010bnh.1_Missense_Mutation_p.A663T NM_001012338 NP_001012338 TP53 7157 broad.mit.edu 37 17 7578351 7578351 + Intron SNP C G G 2011-2266:2012-3270-T g.chr17:7578351C>G uc002gim.2 - TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Intron|TP53_uc010cng.1_Intron|TP53_uc002gii.1_Intron|TP53_uc010cnh.1_Intron|TP53_uc010cni.1_Intron|TP53_uc002gij.2_Intron|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Intron NM_001126112 NP_001119584 CABLES1 91768 broad.mit.edu 37 18 20798312 20798312 + Intron SNP C G G 2011-2266:2012-3270-T g.chr18:20798312C>G uc002kuc.2 + C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Intron|CABLES1_uc002kud.2_Intron NM_001100619 NP_001094089 MED16 10025 broad.mit.edu 37 19 879647 879647 + Intron SNP A G G 2011-2266:2012-3270-T g.chr19:879647A>G uc002lqd.1 - MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Intron|MED16_uc002lqf.2_Intron|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron NM_005481 NP_005472 PXDN 7837 broad.mit.edu 37 2 1714938 1714938 + Intron SNP C T T rs113013882 2011-2266:2012-3270-T g.chr2:1714938C>T uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 RMND5A 64795 broad.mit.edu 37 2 87623376 87623376 + Intron SNP G A A 2011-2266:2012-3270-T g.chr2:87623376G>A uc002srs.3 + LRP1B 53353 broad.mit.edu 37 2 141026694 141026694 + Intron SNP G T T 2011-2266:2012-3270-T g.chr2:141026694G>T uc002tvj.1 - NM_018557 NP_061027 FARP2 9855 broad.mit.edu 37 2 242407681 242407681 + Missense_Mutation SNP C G G 2011-2266:2012-3270-T g.chr2:242407681C>G uc002wbi.1 + 18 2137 c.2020C>G c.(2020-2022)CTC>GTC p.L674V NM_014808 NP_055623 SNPH 9751 broad.mit.edu 37 20 1258287 1258287 + Intron SNP C A A 2011-2266:2012-3270-T g.chr20:1258287C>A uc002wes.2 + SNPH_uc002wet.2_Intron NM_014723 NP_055538 PTK6 5753 broad.mit.edu 37 20 62161536 62161536 + Missense_Mutation SNP C A A 2011-2266:2012-3270-T g.chr20:62161536C>A uc002yfg.2 - 7 1103 c.1063G>T c.(1063-1065)GCC>TCC p.A355S PTK6_uc011aay.1_Missense_Mutation_p.A254S|PTK6_uc011aaz.1_Missense_Mutation_p.A117S NM_005975 NP_005966 TRPM2 7226 broad.mit.edu 37 21 45815798 45815798 + Intron SNP G A A 2011-2266:2012-3270-T g.chr21:45815798G>A uc002zet.1 + TRPM2_uc002zeu.1_Intron|TRPM2_uc002zew.1_Intron|TRPM2_uc010gpt.1_Intron|TRPM2_uc002zex.1_Intron|TRPM2_uc002zey.1_Intron NM_003307 NP_003298 MPPED1 758 broad.mit.edu 37 22 43891592 43891592 + Intron SNP G A A 2011-2266:2012-3270-T g.chr22:43891592G>A uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 MUC4 4585 broad.mit.edu 37 3 195502836 195502836 + Intron SNP C T T 2011-2266:2012-3270-T g.chr3:195502836C>T uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 PPP2R2C 5522 broad.mit.edu 37 4 6513573 6513573 + Intron SNP G A A 2011-2266:2012-3270-T g.chr4:6513573G>A uc011bwd.1 - PPP2R2C_uc011bwe.1_Intron NM_181876 NP_870991 PCDHB11 56125 broad.mit.edu 37 5 140580483 140580483 + Missense_Mutation SNP G A A 2011-2266:2012-3270-T g.chr5:140580483G>A uc003liy.2 + 1 1136 c.1136G>A c.(1135-1137)GGA>GAA p.G379E PCDHB11_uc011daj.1_Missense_Mutation_p.G14E NM_018931 NP_061754 SLIT3 6586 broad.mit.edu 37 5 168173708 168173708 + Intron SNP T C C 2011-2266:2012-3270-T g.chr5:168173708T>C uc003mab.2 - SLIT3_uc010jjg.2_Intron NM_003062 NP_003053 HBS1L 10767 broad.mit.edu 37 6 135360746 135360746 + Missense_Mutation SNP T A A 2011-2266:2012-3270-T g.chr6:135360746T>A uc003qez.2 - 4 602 c.395A>T c.(394-396)AAT>ATT p.N132I HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Intron|HBS1L_uc011eda.1_Missense_Mutation_p.N90I|HBS1L_uc003qfa.2_Missense_Mutation_p.N132I NM_006620 NP_006611 SYNE1 23345 broad.mit.edu 37 6 152605127 152605127 + Missense_Mutation SNP G A A 2011-2266:2012-3270-T g.chr6:152605127G>A uc010kiw.2 - 96 18795 c.18193C>T c.(18193-18195)CGG>TGG p.R6065W SYNE1_uc010kiv.2_Missense_Mutation_p.R589W|SYNE1_uc003qos.3_Missense_Mutation_p.R589W|SYNE1_uc003qot.3_Missense_Mutation_p.R5994W|SYNE1_uc003qou.3_Missense_Mutation_p.R6065W|SYNE1_uc010kiy.1_Missense_Mutation_p.R244W NM_182961 NP_892006 MLL3 58508 broad.mit.edu 37 7 151945201 151945201 + Missense_Mutation SNP G A A 2011-2266:2012-3270-T g.chr7:151945201G>A uc003wla.2 - 14 2537 c.2318C>T c.(2317-2319)TCA>TTA p.S773L NM_170606 NP_733751 PTPRN2 5799 broad.mit.edu 37 7 158178969 158178969 + Intron SNP C T T 2011-2266:2012-3270-T g.chr7:158178969C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 RB1CC1 9821 broad.mit.edu 37 8 53596018 53596018 + Intron SNP T G G 2011-2266:2012-3270-T g.chr8:53596018T>G uc003xre.3 - RB1CC1_uc003xrf.3_Intron NM_014781 NP_055596 NOTCH1 4851 broad.mit.edu 37 9 139400860 139400860 + Intron SNP T G G 2011-2266:2012-3270-T g.chr9:139400860T>G uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NKAP 79576 broad.mit.edu 37 X 119059334 119059334 + Missense_Mutation SNP C T T 2011-2266:2012-3270-T g.chrX:119059334C>T uc004esh.2 - 9 1264 c.1097G>A c.(1096-1098)CGA>CAA p.R366Q NKAP_uc004esg.2_Missense_Mutation_p.R253Q NM_024528 NP_078804 PRDM16 63976 broad.mit.edu 37 1 3187037 3187037 + Intron SNP A T T 2011-2267:2012-369-T g.chr1:3187037A>T uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 NOTCH2 4853 broad.mit.edu 37 1 120501870 120501870 + Intron SNP T G G 2011-2267:2012-369-T g.chr1:120501870T>G uc001eik.2 - NOTCH2_uc001eil.2_Intron|NOTCH2_uc001eim.3_Intron NM_024408 NP_077719 ADARB2 105 broad.mit.edu 37 10 1281952 1281952 + Intron SNP T C C 2011-2267:2012-369-T g.chr10:1281952T>C uc009xhq.2 - NM_018702 NP_061172 CUBN 8029 broad.mit.edu 37 10 16979590 16979590 + Splice_Site SNP C A A 2011-2267:2012-369-T g.chr10:16979590C>A uc001ioo.2 - 39 5978 c.5926_splice c.e39+1 p.G1976_splice NM_001081 NP_001072 WT1 7490 broad.mit.edu 37 11 32414276 32414276 + Missense_Mutation SNP G C C 2011-2267:2012-369-T g.chr11:32414276G>C uc001mtn.1 - 8 1471 c.1275C>G c.(1273-1275)TTC>TTG p.F425L WT1_uc001mtl.1_Missense_Mutation_p.F213L|WT1_uc001mtm.1_Missense_Mutation_p.F196L|WT1_uc001mto.1_Missense_Mutation_p.F425L|WT1_uc001mtp.1_Missense_Mutation_p.F408L|WT1_uc001mtq.1_Missense_Mutation_p.F408L|WT1_uc009yjs.1_RNA NM_024426 NP_077744 ABCD2 225 broad.mit.edu 37 12 40013336 40013336 + Missense_Mutation SNP C A A 2011-2267:2012-369-T g.chr12:40013336C>A uc001rmb.2 - 1 508 c.82G>T c.(82-84)GCT>TCT p.A28S NM_005164 NP_005155 COL4A2 1284 broad.mit.edu 37 13 111133728 111133728 + Intron SNP C T T 2011-2267:2012-369-T g.chr13:111133728C>T uc001vqx.2 + NM_001846 NP_001837 LMF1 64788 broad.mit.edu 37 16 908300 908300 + Intron SNP A G G rs146777801 2011-2267:2012-369-T g.chr16:908300A>G uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 BAIAP3 8938 broad.mit.edu 37 16 1389867 1389867 + Intron SNP C T T 2011-2267:2012-369-T g.chr16:1389867C>T uc002clk.1 + BAIAP3_uc002clj.2_Intron|BAIAP3_uc010uuz.1_Intron|BAIAP3_uc010uva.1_Intron|BAIAP3_uc010uvb.1_Intron|BAIAP3_uc010uvc.1_Intron NM_003933 NP_003924 CORO7 79585 broad.mit.edu 37 16 4394828 4394828 + Intron SNP A G G 2011-2267:2012-369-T g.chr16:4394828A>G uc002cwf.2 - CORO7_uc002cwe.2_Intron|TIMM16_uc002cwd.2_Intron NM_024535 NP_078811 PALB2 79728 broad.mit.edu 37 16 23637869 23637869 + Intron SNP T A A 2011-2267:2012-369-T g.chr16:23637869T>A uc002dlx.1 - NM_024675 NP_078951 HYDIN 54768 broad.mit.edu 37 16 70843895 70843895 + Missense_Mutation SNP C T T 2011-2267:2012-369-T g.chr16:70843895C>T uc002ezr.2 - 85 14799 c.14671G>A c.(14671-14673)GAA>AAA p.E4891K HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 HYDIN 54768 broad.mit.edu 37 16 70926318 70926318 + Missense_Mutation SNP G C C 2011-2267:2012-369-T g.chr16:70926318G>C uc002ezr.2 - 56 9488 c.9360C>G c.(9358-9360)TTC>TTG p.F3120L NM_032821 NP_116210 BRCA1 672 broad.mit.edu 37 17 41243190 41243190 + Intron SNP T G G rs799916 by1000genomes 2011-2267:2012-369-T g.chr17:41243190T>G uc002icq.2 - BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Intron|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Intron|BRCA1_uc002ict.2_Intron|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_3'UTR NM_007294 NP_009225 RTTN 25914 broad.mit.edu 37 18 67679220 67679220 + Intron SNP G C C 2011-2267:2012-369-T g.chr18:67679220G>C uc002lkp.2 - RTTN_uc002lko.2_Intron|RTTN_uc010xfb.1_Intron|RTTN_uc002lkn.2_Intron|RTTN_uc010dqp.2_Intron NM_173630 NP_775901 NOTCH3 4854 broad.mit.edu 37 19 15299700 15299700 + Intron SNP C G G 2011-2267:2012-369-T g.chr19:15299700C>G uc002nan.2 - NOTCH3_uc002nao.1_Intron NM_000435 NP_000426 NLRP12 91662 broad.mit.edu 37 19 54311027 54311027 + Intron SNP G A A 2011-2267:2012-369-T g.chr19:54311027G>A uc002qch.3 - NLRP12_uc010eqw.2_5'UTR|NLRP12_uc002qci.3_Intron|NLRP12_uc002qcj.3_Intron|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron NM_144687 NP_653288 CUL3 8452 broad.mit.edu 37 2 225370592 225370592 + Intron SNP C T T 2011-2267:2012-369-T g.chr2:225370592C>T uc002vny.2 - CUL3_uc010zls.1_Intron|CUL3_uc010fwy.1_Intron NM_003590 NP_003581 KCNQ2 3785 broad.mit.edu 37 20 62093446 62093446 + Intron SNP A G G 2011-2267:2012-369-T g.chr20:62093446A>G uc002yey.1 - KCNQ2_uc002yez.1_Intron|KCNQ2_uc002yfa.1_Intron|KCNQ2_uc002yfb.1_Intron|KCNQ2_uc011aax.1_Intron|KCNQ2_uc002yfc.1_Intron NM_172107 NP_742105 TPTE 7179 broad.mit.edu 37 21 10996134 10996134 + RNA SNP C A A 2011-2267:2012-369-T g.chr21:10996134C>A uc002yis.1 - 12 c.2052G>T BAGE2 85319 broad.mit.edu 37 21 11040737 11040737 + Intron SNP G A A 2011-2267:2012-369-T g.chr21:11040737G>A uc002yit.1 - TPTE_uc002yis.1_5'Flank NM_182482 NP_872288 ANKRD17 26057 broad.mit.edu 37 4 74013139 74013139 + Silent SNP G T T 2011-2267:2012-369-T g.chr4:74013139G>T uc003hgp.2 - 9 1695 c.1578C>A c.(1576-1578)ATC>ATA p.I526I ANKRD17_uc003hgo.2_Silent_p.I413I|ANKRD17_uc003hgq.2_Silent_p.I526I|ANKRD17_uc003hgr.2_Silent_p.I526I|ANKRD17_uc011cbd.1_Intron NM_032217 NP_115593 MEF2C 4208 broad.mit.edu 37 5 88024978 88024978 + Intron SNP C G G 2011-2267:2012-369-T g.chr5:88024978C>G uc003kjj.2 - MEF2C_uc003kji.2_Intron|MEF2C_uc003kjk.2_Intron|MEF2C_uc003kjm.2_Intron|MEF2C_uc003kjl.2_Intron NM_002397 NP_002388 RUFY1 80230 broad.mit.edu 37 5 178986999 178986999 + Intron SNP G A A 2011-2267:2012-369-T g.chr5:178986999G>A uc003mka.1 + RUFY1_uc003mkb.1_Intron|RUFY1_uc003mkc.1_5'UTR NM_025158 NP_079434 BPHL 670 broad.mit.edu 37 6 3146447 3146447 + Intron SNP G T T rs71547247 2011-2267:2012-369-T g.chr6:3146447G>T uc003mva.2 + BPHL_uc003muz.2_Intron|BPHL_uc011dht.1_Intron|BPHL_uc003muy.2_Intron NM_004332 NP_004323 TAP2 6891 broad.mit.edu 37 6 32806576 32806576 + 5'Flank SNP C T T rs4148869 by1000genomes 2011-2267:2012-369-T g.chr6:32806576C>T uc003occ.2 - TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003ocd.2_5'Flank NM_018833 NP_061313 TAP2 6891 broad.mit.edu 37 6 32806584 32806584 + 5'Flank SNP G A A rs111265318 2011-2267:2012-369-T g.chr6:32806584G>A uc003occ.2 - TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003ocd.2_5'Flank NM_018833 NP_061313 EPHA7 2045 broad.mit.edu 37 6 93969049 93969049 + Intron SNP C T T 2011-2267:2012-369-T g.chr6:93969049C>T uc003poe.2 - EPHA7_uc003pof.2_Intron|EPHA7_uc011eac.1_Intron NM_004440 NP_004431 SYNE1 23345 broad.mit.edu 37 6 152644743 152644743 + Nonsense_Mutation SNP G A A 2011-2267:2012-369-T g.chr6:152644743G>A uc010kiw.2 - 82 16389 c.15787C>T c.(15787-15789)CAG>TAG p.Q5263* SYNE1_uc003qot.3_Nonsense_Mutation_p.Q5192*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q5263*|SYNE1_uc010kiz.2_Nonsense_Mutation_p.Q1018* NM_182961 NP_892006 C7orf50 84310 broad.mit.edu 37 7 1055717 1055717 + Intron SNP A G G rs71020556 2011-2267:2012-369-T g.chr7:1055717A>G uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 KIAA1549 57670 broad.mit.edu 37 7 138583641 138583641 + Intron SNP C T T 2011-2267:2012-369-T g.chr7:138583641C>T uc011kql.1 - KIAA1549_uc011kqi.1_Intron|KIAA1549_uc003vuk.3_Intron|KIAA1549_uc011kqj.1_Intron|KIAA1549_uc011kqk.1_Intron NM_020910 NP_065961 ARHGEF10 9639 broad.mit.edu 37 8 1787445 1787445 + Intron SNP G A A rs111709184 2011-2267:2012-369-T g.chr8:1787445G>A uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 PKHD1L1 93035 broad.mit.edu 37 8 110457938 110457938 + Intron SNP T C C 2011-2267:2012-369-T g.chr8:110457938T>C uc003yne.2 + NM_177531 NP_803875 HUWE1 10075 broad.mit.edu 37 X 53564649 53564649 + Missense_Mutation SNP C T T 2011-2267:2012-369-T g.chrX:53564649C>T uc004dsp.2 - 78 12407 c.12005G>A c.(12004-12006)CGC>CAC p.R4002H HUWE1_uc004dsn.2_Missense_Mutation_p.R2810H|HUWE1_uc004dsq.1_Missense_Mutation_p.R302H NM_031407 NP_113584 HUWE1 10075 broad.mit.edu 37 X 53565687 53565687 + Intron SNP T A A 2011-2267:2012-369-T g.chrX:53565687T>A uc004dsp.2 - HUWE1_uc004dsn.2_Intron|HUWE1_uc004dsq.1_Intron NM_031407 NP_113584 NBPF1 55672 broad.mit.edu 37 1 16914385 16914385 + Intron SNP A G G 2011-2268:2012-368-T g.chr1:16914385A>G uc009vos.1 - NBPF1_uc009vot.1_5'Flank|NBPF1_uc001ayz.1_5'Flank|NBPF1_uc010oce.1_Intron NM_017940 NP_060410 MACF1 23499 broad.mit.edu 37 1 39898718 39898718 + Splice_Site SNP A G G 2011-2268:2012-368-T g.chr1:39898718A>G uc010oiu.1 + 32 12909 c.12778_splice c.e32-2 p.A4260_splice MACF1_uc010ois.1_Splice_Site_p.A3758_splice|MACF1_uc001cda.1_Splice_Site_p.A3645_splice|MACF1_uc001cdc.1_Splice_Site_p.A2715_splice NM_033044 NP_149033 CDKN2C 1031 broad.mit.edu 37 1 51435364 51435364 + 5'UTR SNP G A A 2011-2268:2012-368-T g.chr1:51435364G>A uc001csf.2 + 1 CDKN2C_uc001csg.2_5'Flank NM_001262 NP_001253 FLG 2312 broad.mit.edu 37 1 152276776 152276776 + Missense_Mutation SNP G A A 2011-2268:2012-368-T g.chr1:152276776G>A uc001ezu.1 - 3 10622 c.10586C>T c.(10585-10587)CCC>CTC p.P3529L NM_002016 NP_002007 ASH1L 55870 broad.mit.edu 37 1 155308222 155308222 + Intron SNP G T T 2011-2268:2012-368-T g.chr1:155308222G>T uc009wqq.2 - RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Intron NM_018489 NP_060959 CUBN 8029 broad.mit.edu 37 10 16878328 16878328 + Silent SNP T A A 2011-2268:2012-368-T g.chr10:16878328T>A uc001ioo.2 - 63 10138 c.10086A>T c.(10084-10086)CCA>CCT p.P3362P NM_001081 NP_001072 CCND1 595 broad.mit.edu 37 11 69455951 69455951 + 5'UTR SNP G T T 2011-2268:2012-368-T g.chr11:69455951G>T uc001opa.2 + 1 NM_053056 NP_444284 TPP2 7174 broad.mit.edu 37 13 103287811 103287811 + Intron SNP T A A 2011-2268:2012-368-T g.chr13:103287811T>A uc001vpi.3 + NM_003291 NP_003282 RASA3 22821 broad.mit.edu 37 13 114794276 114794276 + Intron SNP G A A 2011-2268:2012-368-T g.chr13:114794276G>A uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron|RASA3_uc010aha.1_Intron NM_007368 NP_031394 SYNE2 23224 broad.mit.edu 37 14 64678697 64678697 + Missense_Mutation SNP G A A 2011-2268:2012-368-T g.chr14:64678697G>A uc001xgm.2 + 104 18972 c.18742G>A c.(18742-18744)GAA>AAA p.E6248K SYNE2_uc001xgl.2_Missense_Mutation_p.E6248K|SYNE2_uc010apy.2_Missense_Mutation_p.E2633K|SYNE2_uc001xgn.2_Missense_Mutation_p.E1210K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.E218K|SYNE2_uc001xgq.2_Missense_Mutation_p.E613K|SYNE2_uc001xgr.2_Missense_Mutation_p.E31K|SYNE2_uc010tsi.1_5'Flank|SYNE2_uc001xgs.2_5'Flank NM_015180 NP_055995 DICER1 23405 broad.mit.edu 37 14 95560626 95560626 + Intron SNP T C C 2011-2268:2012-368-T g.chr14:95560626T>C uc001ydw.2 - DICER1_uc010avh.1_Intron|DICER1_uc001ydv.2_Intron|DICER1_uc001ydx.2_Intron NM_030621 NP_085124 RHCG 51458 broad.mit.edu 37 15 90018051 90018051 + Intron SNP G T T 2011-2268:2012-368-T g.chr15:90018051G>T uc002bnz.2 - RHCG_uc002bny.2_Intron|RHCG_uc002boa.2_Intron NM_016321 NP_057405 BLM 641 broad.mit.edu 37 15 91358461 91358461 + Silent SNP G T T 2011-2268:2012-368-T g.chr15:91358461G>T uc002bpr.2 + 22 4303 c.4206G>T c.(4204-4206)CCG>CCT p.P1402P BLM_uc010uqh.1_Silent_p.P1402P|BLM_uc010uqi.1_Silent_p.P1027P|BLM_uc010bnx.2_Silent_p.P1271P|BLM_uc002bpt.2_Silent_p.P377P NM_000057 NP_000048 DNAH3 55567 broad.mit.edu 37 16 21157271 21157271 + Intron SNP C G G 2011-2268:2012-368-T g.chr16:21157271C>G uc010vbe.1 - DNAH3_uc002die.2_Intron NM_017539 NP_060009 TP53 7157 broad.mit.edu 37 17 7577107 7577107 + Nonsense_Mutation SNP A T T 2011-2268:2012-368-T g.chr17:7577107A>T uc002gim.2 - 8 1025 c.831T>A c.(829-831)TGT>TGA p.C277* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.C277*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.C145*|TP53_uc010cng.1_Nonsense_Mutation_p.C145*|TP53_uc002gii.1_Nonsense_Mutation_p.C145*|TP53_uc010cnh.1_Nonsense_Mutation_p.C277*|TP53_uc010cni.1_Nonsense_Mutation_p.C277*|TP53_uc002gij.2_Nonsense_Mutation_p.C277* NM_001126112 NP_001119584 PRKCA 5578 broad.mit.edu 37 17 64795388 64795388 + Intron SNP G T T 2011-2268:2012-368-T g.chr17:64795388G>T uc002jfp.1 + NM_002737 NP_002728 ZNF521 25925 broad.mit.edu 37 18 22805157 22805157 + Missense_Mutation SNP G T T 2011-2268:2012-368-T g.chr18:22805157G>T uc002kvk.2 - 4 2972 c.2725C>A c.(2725-2727)CAC>AAC p.H909N ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.H909N|ZNF521_uc002kvl.2_Missense_Mutation_p.H689N NM_015461 NP_056276 PLIN5 440503 broad.mit.edu 37 19 4525833 4525833 + Missense_Mutation SNP C T T 2011-2268:2012-368-T g.chr19:4525833C>T uc002mas.2 - 6 585 c.532G>A c.(532-534)GCT>ACT p.A178T NM_001013706 NP_001013728 GREB1 9687 broad.mit.edu 37 2 11777208 11777208 + Intron SNP G A A 2011-2268:2012-368-T g.chr2:11777208G>A uc002rbk.1 + GREB1_uc002rbp.1_Intron NM_014668 NP_055483 RMND5A 64795 broad.mit.edu 37 2 87656752 87656752 + Intron SNP C T T 2011-2268:2012-368-T g.chr2:87656752C>T uc002srs.3 + LRP1B 53353 broad.mit.edu 37 2 141055348 141055348 + Intron SNP G A A 2011-2268:2012-368-T g.chr2:141055348G>A uc002tvj.1 - NM_018557 NP_061027 PRDM15 63977 broad.mit.edu 37 21 43226494 43226494 + Intron SNP T C C 2011-2268:2012-368-T g.chr21:43226494T>C uc002yzq.1 - PRDM15_uc002yzo.2_Intron|PRDM15_uc002yzp.2_Intron|PRDM15_uc002yzr.1_Intron NM_022115 NP_071398 C21orf56 84221 broad.mit.edu 37 21 47590621 47590621 + Intron SNP G A A 2011-2268:2012-368-T g.chr21:47590621G>A uc011afu.1 - C21orf56_uc002zii.2_Intron NM_001142854 NP_001136326 EFCAB6 64800 broad.mit.edu 37 22 44004465 44004465 + Missense_Mutation SNP C T T rs55698170 byFrequency 2011-2268:2012-368-T g.chr22:44004465C>T uc003bdy.1 - 22 2793 c.2578G>A c.(2578-2580)GAT>AAT p.D860N EFCAB6_uc003bdz.1_Missense_Mutation_p.D708N|EFCAB6_uc010gzi.1_Missense_Mutation_p.D708N|EFCAB6_uc010gzj.1_Intron NM_022785 NP_073622 SETD2 29072 broad.mit.edu 37 3 47087979 47087979 + Missense_Mutation SNP G A A 2011-2268:2012-368-T g.chr3:47087979G>A uc003cqs.2 - 16 7149 c.7096C>T c.(7096-7098)CCA>TCA p.P2366S SETD2_uc003cqv.2_Missense_Mutation_p.P2433S|SETD2_uc003cqr.2_5'UTR NM_014159 NP_054878 PBRM1 55193 broad.mit.edu 37 3 52637597 52637597 + Nonsense_Mutation SNP T A A 2011-2268:2012-368-T g.chr3:52637597T>A uc003des.2 - 17 2731 c.2719A>T c.(2719-2721)AAG>TAG p.K907* PBRM1_uc003dex.2_Intron|PBRM1_uc003deq.2_Nonsense_Mutation_p.K907*|PBRM1_uc003der.2_Nonsense_Mutation_p.K875*|PBRM1_uc003det.2_Nonsense_Mutation_p.K922*|PBRM1_uc003deu.2_Nonsense_Mutation_p.K922*|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Nonsense_Mutation_p.K907*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.K907*|PBRM1_uc003dey.2_Nonsense_Mutation_p.K907*|PBRM1_uc003dez.1_Nonsense_Mutation_p.K907*|PBRM1_uc003dfb.1_Nonsense_Mutation_p.K820*|PBRM1_uc003dfa.1_Nonsense_Mutation_p.K253* NM_181042 NP_060635 GABRA4 2557 broad.mit.edu 37 4 46995571 46995571 + 5'UTR SNP C G G 2011-2268:2012-368-T g.chr4:46995571C>G uc003gxg.2 - 1 NM_000809 NP_000800 TRIO 7204 broad.mit.edu 37 5 14304706 14304706 + Intron SNP G A A 2011-2268:2012-368-T g.chr5:14304706G>A uc003jff.2 + TRIO_uc003jfg.2_Intron|TRIO_uc011cna.1_Intron|TRIO_uc003jfh.1_Intron NM_007118 NP_009049 CDH9 1007 broad.mit.edu 37 5 26886149 26886149 + Missense_Mutation SNP C T T 2011-2268:2012-368-T g.chr5:26886149C>T uc003jgs.1 - 10 1725 c.1556G>A c.(1555-1557)CGA>CAA p.R519Q CDH9_uc011cnv.1_Missense_Mutation_p.R112Q NM_016279 NP_057363 MEF2C 4208 broad.mit.edu 37 5 88119612 88119612 + 5'UTR SNP C T T 2011-2268:2012-368-T g.chr5:88119612C>T uc003kjj.2 - 2 MEF2C_uc003kji.2_5'UTR|MEF2C_uc003kjk.2_5'UTR|MEF2C_uc003kjm.2_5'UTR|MEF2C_uc003kjl.2_5'UTR NM_002397 NP_002388 ROS1 6098 broad.mit.edu 37 6 117678010 117678010 + Missense_Mutation SNP G T T 2011-2268:2012-368-T g.chr6:117678010G>T uc003pxp.1 - 25 4122 c.3923C>A c.(3922-3924)ACC>AAC p.T1308N ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 UBR5 51366 broad.mit.edu 37 8 103289330 103289330 + Missense_Mutation SNP C A A rs141886654 byFrequency 2011-2268:2012-368-T g.chr8:103289330C>A uc003ykr.1 - 45 6412 c.6379G>T c.(6379-6381)GTG>TTG p.V2127L UBR5_uc003yks.1_Missense_Mutation_p.V2127L NM_015902 NP_056986 UBR5 51366 broad.mit.edu 37 8 103358590 103358590 + Missense_Mutation SNP C A A 2011-2268:2012-368-T g.chr8:103358590C>A uc003ykr.1 - 7 643 c.610G>T c.(610-612)GTC>TTC p.V204F UBR5_uc003yks.1_Missense_Mutation_p.V204F NM_015902 NP_056986 CSMD3 114788 broad.mit.edu 37 8 113529446 113529446 + Missense_Mutation SNP C A A 2011-2268:2012-368-T g.chr8:113529446C>A uc003ynu.2 - 28 4732 c.4573G>T c.(4573-4575)GCC>TCC p.A1525S CSMD3_uc003yns.2_Missense_Mutation_p.A797S|CSMD3_uc003ynt.2_Missense_Mutation_p.A1485S|CSMD3_uc011lhx.1_Missense_Mutation_p.A1421S NM_198123 NP_937756 TSC1 7248 broad.mit.edu 37 9 135786685 135786685 + Intron SNP C T T 2011-2268:2012-368-T g.chr9:135786685C>T uc004cca.2 - TSC1_uc004ccb.3_Intron|TSC1_uc011mcq.1_Intron|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Intron|TSC1_uc004ccc.1_Intron|TSC1_uc004ccd.2_3'UTR|TSC1_uc004cce.1_3'UTR NM_000368 NP_000359 EHMT1 79813 broad.mit.edu 37 9 140610954 140610954 + Intron SNP T G G 2011-2268:2012-368-T g.chr9:140610954T>G uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 NRK 203447 broad.mit.edu 37 X 105178187 105178187 + Intron SNP G T T 2011-2268:2012-368-T g.chrX:105178187G>T uc004emd.2 + NRK_uc010npc.1_Intron NM_198465 NP_940867 NOTCH2 4853 broad.mit.edu 37 1 120506032 120506032 + Intron SNP G A A rs17024577 by1000genomes 2011-2269:2012-1328-T g.chr1:120506032G>A uc001eik.2 - NOTCH2_uc001eil.2_Intron|NOTCH2_uc001eim.3_Intron NM_024408 NP_077719 ATM 472 broad.mit.edu 37 11 108143414 108143414 + Intron SNP C G G 2011-2269:2012-1328-T g.chr11:108143414C>G uc001pkb.1 + ATM_uc009yxr.1_Intron NM_000051 NP_000042 FLT3 2322 broad.mit.edu 37 13 28589267 28589267 + Intron SNP C T T rs4073630 by1000genomes 2011-2269:2012-1328-T g.chr13:28589267C>T uc001urw.2 - FLT3_uc010aao.2_Intron|FLT3_uc010tdn.1_Intron NM_004119 NP_004110 BRCA2 675 broad.mit.edu 37 13 32890572 32890572 + 5'UTR SNP G A A rs1799943 byFrequency;by1000genomes 2011-2269:2012-1328-T g.chr13:32890572G>A uc001uub.1 + 2 BRCA2_uc001uua.1_5'UTR NM_000059 NP_000050 MCF2L 23263 broad.mit.edu 37 13 113665841 113665841 + Intron SNP T G G 2011-2269:2012-1328-T g.chr13:113665841T>G uc001vsu.2 + MCF2L_uc001vsq.2_Intron|MCF2L_uc010tjr.1_Intron|MCF2L_uc001vsr.2_Intron|MCF2L_uc001vss.3_Intron|MCF2L_uc010tjs.1_Intron NM_001112732 NP_001106203 F7 2155 broad.mit.edu 37 13 113763208 113763208 + Intron SNP G T T 2011-2269:2012-1328-T g.chr13:113763208G>T uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 SYNE2 23224 broad.mit.edu 37 14 64340746 64340746 + Intron SNP A T T 2011-2269:2012-1328-T g.chr14:64340746A>T uc001xgm.2 + SYNE2_uc001xgk.2_Intron|SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64408309 64408309 + Intron SNP C T T 2011-2269:2012-1328-T g.chr14:64408309C>T uc001xgm.2 + SYNE2_uc001xgk.2_Intron|SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64498136 64498136 + Intron SNP C G G 2011-2269:2012-1328-T g.chr14:64498136C>G uc001xgm.2 + SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 CREBBP 1387 broad.mit.edu 37 16 3807936 3807936 + Silent SNP G A A 2011-2269:2012-1328-T g.chr16:3807936G>A uc002cvv.2 - 18 3687 c.3483C>T c.(3481-3483)TTC>TTT p.F1161F CREBBP_uc002cvw.2_Silent_p.F1123F NM_004380 NP_004371 TP53 7157 broad.mit.edu 37 17 7577105 7577105 + Missense_Mutation SNP G A A 2011-2269:2012-1328-T g.chr17:7577105G>A uc002gim.2 - 8 1027 c.833C>T c.(832-834)CCT>CTT p.P278L TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.P278L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146L|TP53_uc010cng.1_Missense_Mutation_p.P146L|TP53_uc002gii.1_Missense_Mutation_p.P146L|TP53_uc010cnh.1_Missense_Mutation_p.P278L|TP53_uc010cni.1_Missense_Mutation_p.P278L|TP53_uc002gij.2_Missense_Mutation_p.P278L NM_001126112 NP_001119584 MYH13 8735 broad.mit.edu 37 17 10219211 10219211 + Intron SNP C G G 2011-2269:2012-1328-T g.chr17:10219211C>G uc002gmk.1 - NM_003802 NP_003793 NF1 4763 broad.mit.edu 37 17 29653293 29653293 + Intron SNP T C C rs9894648 by1000genomes 2011-2269:2012-1328-T g.chr17:29653293T>C uc002hgg.2 + NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron NM_001042492 NP_001035957 PHLPP1 23239 broad.mit.edu 37 18 60645152 60645152 + Intron SNP G C C 2011-2269:2012-1328-T g.chr18:60645152G>C uc002lis.2 + NM_194449 NP_919431 LILRB1 10859 broad.mit.edu 37 19 55144048 55144048 + Missense_Mutation SNP C A A 2011-2269:2012-1328-T g.chr19:55144048C>A uc002qgj.2 + 7 1135 c.795C>A c.(793-795)TTC>TTA p.F265L LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.F265L|LILRB1_uc002qgk.2_Missense_Mutation_p.F265L|LILRB1_uc002qgm.2_Missense_Mutation_p.F265L|LILRB1_uc010erq.2_Missense_Mutation_p.F265L|LILRB1_uc010err.2_RNA NM_006669 NP_006660 MSH6 2956 broad.mit.edu 37 2 48028320 48028320 + Intron SNP C G G 2011-2269:2012-1328-T g.chr2:48028320C>G uc002rwd.3 + MSH6_uc002rwc.2_Silent_p.L1066L|MSH6_uc010fbj.2_Intron|MSH6_uc010yoi.1_Intron|MSH6_uc010yoj.1_Intron NM_000179 NP_000170 LRP1B 53353 broad.mit.edu 37 2 141533573 141533573 + Intron SNP A G G rs13009144 by1000genomes 2011-2269:2012-1328-T g.chr2:141533573A>G uc002tvj.1 - NM_018557 NP_061027 TTN 7273 broad.mit.edu 37 2 179440286 179440286 + Missense_Mutation SNP C G G 2011-2269:2012-1328-T g.chr2:179440286C>G uc010zfg.1 - 275 63093 c.62869G>C c.(62869-62871)GAG>CAG p.E20957Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E14652Q|TTN_uc010zfi.1_Missense_Mutation_p.E14585Q|TTN_uc010zfj.1_Missense_Mutation_p.E14460Q NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179575562 179575562 + Missense_Mutation SNP G A A 2011-2269:2012-1328-T g.chr2:179575562G>A uc010zfg.1 - 95 24754 c.24530C>T c.(24529-24531)ACG>ATG p.T8177M TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4838M NM_133378 NP_596869 CASP8 841 broad.mit.edu 37 2 202151163 202151163 + Intron SNP A G G rs3769818 by1000genomes 2011-2269:2012-1328-T g.chr2:202151163A>G uc002uxr.1 + CASP8_uc002uxp.1_Intron|CASP8_uc002uxq.1_Intron|CASP8_uc002uxt.1_Intron|CASP8_uc002uxu.1_Intron|CASP8_uc002uxw.1_Intron|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Intron NM_033355 NP_203519 PAK7 57144 broad.mit.edu 37 20 9546560 9546560 + Nonsense_Mutation SNP G A A 2011-2269:2012-1328-T g.chr20:9546560G>A uc002wnl.2 - 6 2007 c.1462C>T c.(1462-1464)CGA>TGA p.R488* PAK7_uc002wnk.2_Nonsense_Mutation_p.R488*|PAK7_uc002wnj.2_Nonsense_Mutation_p.R488*|PAK7_uc010gby.1_Nonsense_Mutation_p.R488* NM_020341 NP_065074 CHRNA4 1137 broad.mit.edu 37 20 61985754 61985754 + Intron SNP G A A 2011-2269:2012-1328-T g.chr20:61985754G>A uc002yes.2 - CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_Intron|CHRNA4_uc010gke.1_Intron|CHRNA4_uc002yev.1_Intron|CHRNA4_uc010gkf.1_Intron NM_000744 NP_000735 COL18A1 80781 broad.mit.edu 37 21 46863013 46863013 + Intron SNP C T T rs144191567 by1000genomes 2011-2269:2012-1328-T g.chr21:46863013C>T uc002zhg.2 + NM_130445 NP_569712 KDR 3791 broad.mit.edu 37 4 55981484 55981484 + Silent SNP G T T 2011-2269:2012-1328-T g.chr4:55981484G>T uc003has.2 - 4 755 c.453C>A c.(451-453)CTC>CTA p.L151L KDR_uc003hat.1_Silent_p.L151L|KDR_uc011bzx.1_Silent_p.L151L NM_002253 NP_002244 FAT1 2195 broad.mit.edu 37 4 187534542 187534542 + Intron SNP T C C rs2249926 by1000genomes 2011-2269:2012-1328-T g.chr4:187534542T>C uc003izf.2 - NM_005245 NP_005236 TRIO 7204 broad.mit.edu 37 5 14270951 14270951 + Missense_Mutation SNP G C C 2011-2269:2012-1328-T g.chr5:14270951G>C uc003jff.2 + 2 181 c.175G>C c.(175-177)GAA>CAA p.E59Q TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.E10Q NM_007118 NP_009049 RASA1 5921 broad.mit.edu 37 5 86564995 86564995 + Intron SNP T A A rs3734000 by1000genomes 2011-2269:2012-1328-T g.chr5:86564995T>A uc003kiw.2 + RASA1_uc010jav.2_Intron|RASA1_uc003kix.2_Intron|RASA1_uc011ctv.1_5'UTR|RASA1_uc011ctw.1_Intron|RASA1_uc010jaw.2_Intron|RASA1_uc011ctu.1_Intron NM_002890 NP_002881 SLCO4C1 353189 broad.mit.edu 37 5 101627027 101627027 + Intron SNP T C C rs841929 by1000genomes 2011-2269:2012-1328-T g.chr5:101627027T>C uc003knm.2 - NM_180991 NP_851322 FAT2 2196 broad.mit.edu 37 5 150946648 150946648 + Silent SNP G A A 2011-2269:2012-1328-T g.chr5:150946648G>A uc003lue.3 - 1 1858 c.1845C>T c.(1843-1845)TTC>TTT p.F615F GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.F615F NM_001447 NP_001438 EPHA7 2045 broad.mit.edu 37 6 94120461 94120461 + Missense_Mutation SNP G A A 2011-2269:2012-1328-T g.chr6:94120461G>A uc003poe.2 - 3 831 c.590C>T c.(589-591)TCT>TTT p.S197F EPHA7_uc003pof.2_Missense_Mutation_p.S197F|EPHA7_uc011eac.1_Missense_Mutation_p.S197F|EPHA7_uc003pog.3_Missense_Mutation_p.S197F NM_004440 NP_004431 SYNE1 23345 broad.mit.edu 37 6 152454298 152454298 + Intron SNP G A A 2011-2269:2012-1328-T g.chr6:152454298G>A uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qop.3_Intron|SYNE1_uc011eez.1_Intron|SYNE1_uc003qoq.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 SLC26A3 1811 broad.mit.edu 37 7 107443871 107443871 + 5'Flank SNP G A A rs2301989 by1000genomes 2011-2269:2012-1328-T g.chr7:107443871G>A uc003ver.2 - SLC26A3_uc003ves.2_5'Flank NM_000111 NP_000102 CSMD3 114788 broad.mit.edu 37 8 113812435 113812435 + Missense_Mutation SNP G A A 2011-2269:2012-1328-T g.chr8:113812435G>A uc003ynu.2 - 13 2087 c.1928C>T c.(1927-1929)ACG>ATG p.T643M CSMD3_uc003ynt.2_Missense_Mutation_p.T603M|CSMD3_uc011lhx.1_Missense_Mutation_p.T539M NM_198123 NP_937756 JAK2 3717 broad.mit.edu 37 9 5050910 5050910 + Intron SNP C T T rs7872649 by1000genomes 2011-2269:2012-1328-T g.chr9:5050910C>T uc010mhm.2 + JAK2_uc003ziw.2_Intron NM_004972 NP_004963 CDKN2A 1029 broad.mit.edu 37 9 21971108 21971108 + Missense_Mutation SNP C A A rs11552822 2011-2269:2012-1328-T g.chr9:21971108C>A uc003zpk.2 - 2 462 c.250G>T c.(250-252)GAC>TAC p.D84Y MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R139L NM_000077 NP_000068 NOTCH1 4851 broad.mit.edu 37 9 139403554 139403554 + Intron SNP T C C rs3124598 by1000genomes 2011-2269:2012-1328-T g.chr9:139403554T>C uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 CLCN4 1183 broad.mit.edu 37 X 10124520 10124520 + 5'Flank SNP C G G 2011-2269:2012-1328-T g.chrX:10124520C>G uc004csy.3 + CLCN4_uc011mid.1_5'Flank NM_001830 NP_001821 PRDM16 63976 broad.mit.edu 37 1 3187185 3187185 + Intron SNP T G G rs3002687 by1000genomes 2011-2270:2012-310-T g.chr1:3187185T>G uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 ADARB2 105 broad.mit.edu 37 10 1493772 1493772 + Intron SNP C A A 2011-2270:2012-310-T g.chr10:1493772C>A uc009xhq.2 - NM_018702 NP_061172 H3F3C 440093 broad.mit.edu 37 12 31944855 31944855 + Silent SNP C G G 2011-2270:2012-310-T g.chr12:31944855C>G uc001rkr.2 - 1 321 c.246G>C c.(244-246)CTG>CTC p.L82L NM_001013699 NP_001013721 HYDIN 54768 broad.mit.edu 37 16 70867052 70867052 + Intron SNP G T T 2011-2270:2012-310-T g.chr16:70867052G>T uc002ezr.2 - HYDIN_uc010cfy.2_Intron NM_032821 NP_116210 EP300 2033 broad.mit.edu 37 22 41565529 41565529 + Missense_Mutation SNP G A A 2011-2270:2012-310-T g.chr22:41565529G>A uc003azl.3 + 26 4590 c.4195G>A c.(4195-4197)GAT>AAT p.D1399N NM_001429 NP_001420 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 2011-2270:2012-310-T g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 CDH9 1007 broad.mit.edu 37 5 26988176 26988176 + Intron SNP C T T 2011-2270:2012-310-T g.chr5:26988176C>T uc003jgs.1 - CDH9_uc010iug.2_Intron NM_016279 NP_057363 GCM2 9247 broad.mit.edu 37 6 10875238 10875238 + Intron SNP T A A rs2076257 by1000genomes 2011-2270:2012-310-T g.chr6:10875238T>A uc003mzn.3 - SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 CNTNAP2 26047 broad.mit.edu 37 7 146805356 146805356 + Missense_Mutation SNP G T T 2011-2270:2012-310-T g.chr7:146805356G>T uc003weu.1 + 5 1184 c.668G>T c.(667-669)GGA>GTA p.G223V NM_014141 NP_054860 HOOK3 84376 broad.mit.edu 37 8 42828378 42828378 + Intron SNP G T T 2011-2270:2012-310-T g.chr8:42828378G>T uc003xpr.2 + HOOK3_uc010lxq.1_Intron NM_032410 NP_115786 HEPH 9843 broad.mit.edu 37 X 65415174 65415174 + Intron SNP T G G rs2206203 by1000genomes 2011-2270:2012-310-T g.chrX:65415174T>G uc011moz.1 + HEPH_uc004dwn.2_Intron|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Intron NM_138737 NP_620074 RGAG1 57529 broad.mit.edu 37 X 109698331 109698331 + Intron SNP A G G 2011-2270:2012-310-T g.chrX:109698331A>G uc004eor.1 + NM_020769 NP_065820 KIF1B 23095 broad.mit.edu 37 1 10435170 10435170 + Intron SNP T C C rs11121551 by1000genomes 2011-2271:2012-328-T g.chr1:10435170T>C uc001aqx.3 + KIF1B_uc001aqw.3_Intron|KIF1B_uc001aqy.2_Intron|KIF1B_uc001aqz.2_Intron|KIF1B_uc001ara.2_Intron|KIF1B_uc001arb.2_Intron NM_015074 NP_055889 C1orf173 127254 broad.mit.edu 37 1 75086665 75086665 + Intron SNP T C C rs10493546 byFrequency;by1000genomes 2011-2271:2012-328-T g.chr1:75086665T>C uc001dgg.2 - uc001dgh.2_Intron|C1orf173_uc001dgi.3_Intron NM_001002912 NP_001002912 COL11A1 1301 broad.mit.edu 37 1 103548319 103548319 + Intron SNP C G G rs11164662 by1000genomes 2011-2271:2012-328-T g.chr1:103548319C>G uc001dul.2 - COL11A1_uc001dum.2_Intron|COL11A1_uc001dun.2_Intron|COL11A1_uc009weh.2_Intron NM_001854 NP_001845 USH2A 7399 broad.mit.edu 37 1 216595346 216595346 + Silent SNP T C C 2011-2271:2012-328-T g.chr1:216595346T>C uc001hku.1 - 2 720 c.333A>G c.(331-333)CCA>CCG p.P111P USH2A_uc001hkv.2_Silent_p.P111P NM_206933 NP_996816 LRRC56 115399 broad.mit.edu 37 11 542117 542117 + Intron SNP A G G 2011-2271:2012-328-T g.chr11:542117A>G uc010qvz.1 + NM_198075 NP_932341 TPCN2 219931 broad.mit.edu 37 11 68843990 68843990 + Intron SNP G A A rs35306535 by1000genomes 2011-2271:2012-328-T g.chr11:68843990G>A uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_Intron NM_139075 NP_620714 PIK3C2G 5288 broad.mit.edu 37 12 18499848 18499848 + Intron SNP A G G 2011-2271:2012-328-T g.chr12:18499848A>G uc001rdt.2 + PIK3C2G_uc010sia.1_Intron|PIK3C2G_uc010sib.1_Intron|PIK3C2G_uc010sic.1_Intron NM_004570 NP_004561 MLL2 8085 broad.mit.edu 37 12 49446160 49446160 + Nonsense_Mutation SNP C A A 2011-2271:2012-328-T g.chr12:49446160C>A uc001rta.3 - 10 1306 c.1306G>T c.(1306-1308)GAG>TAG p.E436* NM_003482 NP_003473 TMEM132D 121256 broad.mit.edu 37 12 130343300 130343300 + Intron SNP G A A rs112941271 2011-2271:2012-328-T g.chr12:130343300G>A uc009zyl.1 - NM_133448 NP_597705 ERCC5 2073 broad.mit.edu 37 13 103498545 103498545 + 5'UTR SNP C T T rs2296148 by1000genomes 2011-2271:2012-328-T g.chr13:103498545C>T uc001vpw.2 + 1 ERCC5_uc001vpu.1_Intron|ERCC5_uc010tjb.1_5'UTR NM_000123 NP_000114 SYNE2 23224 broad.mit.edu 37 14 64676932 64676932 + Intron SNP G T T 2011-2271:2012-328-T g.chr14:64676932G>T uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_Intron NM_015180 NP_055995 NRXN3 9369 broad.mit.edu 37 14 80312067 80312067 + Intron SNP G C C 2011-2271:2012-328-T g.chr14:80312067G>C uc001xun.2 + NRXN3_uc001xum.1_Intron|NRXN3_uc001xup.2_Intron|NRXN3_uc001xuq.2_Intron|NRXN3_uc010asw.2_Intron|NRXN3_uc001xur.3_Intron NM_004796 NP_004787 TP53 7157 broad.mit.edu 37 17 7577058 7577058 + Nonsense_Mutation SNP C A A 2011-2271:2012-328-T g.chr17:7577058C>A uc002gim.2 - 8 1074 c.880G>T c.(880-882)GAG>TAG p.E294* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E294*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E162*|TP53_uc010cng.1_Nonsense_Mutation_p.E162*|TP53_uc002gii.1_Nonsense_Mutation_p.E162*|TP53_uc010cnh.1_Nonsense_Mutation_p.E294*|TP53_uc010cni.1_Nonsense_Mutation_p.E294*|TP53_uc002gij.2_Nonsense_Mutation_p.E294* NM_001126112 NP_001119584 SMC6 79677 broad.mit.edu 37 2 17888457 17888457 + Intron SNP G A A rs6734462 by1000genomes 2011-2271:2012-328-T g.chr2:17888457G>A uc002rco.2 - SMC6_uc010exo.2_Intron|SMC6_uc002rcn.2_Intron|SMC6_uc002rcp.1_Intron|SMC6_uc002rcq.2_Intron NM_001142286 NP_001135758 TTN 7273 broad.mit.edu 37 2 179403593 179403593 + Intron SNP G A A rs2303539 by1000genomes 2011-2271:2012-328-T g.chr2:179403593G>A uc010zfg.1 - uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179635919 179635919 + Intron SNP C T T rs13011633 by1000genomes 2011-2271:2012-328-T g.chr2:179635919C>T uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002unb.2_Intron NM_133378 NP_596869 CUL3 8452 broad.mit.edu 37 2 225368370 225368370 + Missense_Mutation SNP T A A 2011-2271:2012-328-T g.chr2:225368370T>A uc002vny.2 - 9 1760 c.1376A>T c.(1375-1377)AAG>ATG p.K459M CUL3_uc010zls.1_Missense_Mutation_p.K393M|CUL3_uc010fwy.1_Missense_Mutation_p.K465M NM_003590 NP_003581 TPTE 7179 broad.mit.edu 37 21 10996134 10996134 + RNA SNP C A A 2011-2271:2012-328-T g.chr21:10996134C>A uc002yis.1 - 12 c.2052G>T CLTCL1 8218 broad.mit.edu 37 22 19279619 19279619 + 5'Flank SNP C T T rs114958160 by1000genomes 2011-2271:2012-328-T g.chr22:19279619C>T uc002zpb.2 - CLTCL1_uc011agv.1_5'Flank|CLTCL1_uc011agw.1_5'Flank NM_007098 NP_009029 MPPED1 758 broad.mit.edu 37 22 43892178 43892178 + Intron SNP G A A 2011-2271:2012-328-T g.chr22:43892178G>A uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 DSPP 1834 broad.mit.edu 37 4 88537378 88537378 + Silent SNP T C C rs138309721 by1000genomes 2011-2271:2012-328-T g.chr4:88537378T>C uc003hqu.2 + 5 3684 c.3564T>C c.(3562-3564)GAT>GAC p.D1188D NM_014208 NP_055023 CDH12 1010 broad.mit.edu 37 5 21752395 21752395 + Intron SNP T G G 2011-2271:2012-328-T g.chr5:21752395T>G uc010iuc.2 - CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Intron|uc003jgj.2_Intron NM_004061 NP_004052 PCDHB11 56125 broad.mit.edu 37 5 140578910 140578910 + 5'Flank SNP G T T 2011-2271:2012-328-T g.chr5:140578910G>T uc003liy.2 + PCDHB11_uc011daj.1_5'Flank NM_018931 NP_061754 HLA-C 3107 broad.mit.edu 37 6 31239681 31239681 + Intron SNP A T T rs111542254 2011-2271:2012-328-T g.chr6:31239681A>T uc003nsy.2 - HLA-C_uc011dnj.1_5'UTR|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Intron|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Intron|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Intron|HLA-B_uc003ntf.2_Intron NM_002117 NP_002108 PHIP 55023 broad.mit.edu 37 6 79695029 79695029 + Intron SNP C T T rs1890229 by1000genomes 2011-2271:2012-328-T g.chr6:79695029C>T uc003pir.2 - PHIP_uc003piq.2_5'Flank|PHIP_uc011dyp.1_Intron NM_017934 NP_060404 ZNF804B 219578 broad.mit.edu 37 7 88847586 88847586 + Missense_Mutation SNP T A A 2011-2271:2012-328-T g.chr7:88847586T>A uc011khi.1 + 2 764 c.226T>A c.(226-228)TCT>ACT p.S76T NM_181646 NP_857597 PIK3CG 5294 broad.mit.edu 37 7 106505478 106505478 + 5'Flank SNP G A A rs4727666 by1000genomes 2011-2271:2012-328-T g.chr7:106505478G>A uc003vdv.3 + PIK3CG_uc003vdu.2_5'Flank|PIK3CG_uc003vdw.2_5'Flank NM_002649 NP_002640 RB1CC1 9821 broad.mit.edu 37 8 53573155 53573155 + Splice_Site SNP C T T 2011-2271:2012-328-T g.chr8:53573155C>T uc003xre.3 - 12 2247 c.1689_splice c.e12+1 p.C563_splice RB1CC1_uc003xrf.3_Splice_Site_p.C563_splice NM_014781 NP_055596 ZFHX4 79776 broad.mit.edu 37 8 77690337 77690337 + Intron SNP G A A rs11782906 by1000genomes 2011-2271:2012-328-T g.chr8:77690337G>A uc003yav.2 + ZFHX4_uc003yau.1_Intron|ZFHX4_uc003yaw.1_Intron NM_024721 NP_078997 NECAB1 64168 broad.mit.edu 37 8 91884780 91884780 + Intron SNP C T T 2011-2271:2012-328-T g.chr8:91884780C>T uc011lgg.1 + NM_022351 NP_071746 CSMD3 114788 broad.mit.edu 37 8 113960032 113960032 + Missense_Mutation SNP C T T 2011-2271:2012-328-T g.chr8:113960032C>T uc003ynu.2 - 9 1654 c.1495G>A c.(1495-1497)GGA>AGA p.G499R CSMD3_uc003ynt.2_Missense_Mutation_p.G459R|CSMD3_uc011lhx.1_Missense_Mutation_p.G395R NM_198123 NP_937756 HEPH 9843 broad.mit.edu 37 X 65382685 65382685 + 5'UTR SNP T C C rs5919015 by1000genomes 2011-2271:2012-328-T g.chrX:65382685T>C uc011moz.1 + 1 HEPH_uc004dwn.2_5'Flank|HEPH_uc004dwo.2_5'Flank|HEPH_uc010nkr.2_5'Flank NM_138737 NP_620074 ODZ1 10178 broad.mit.edu 37 X 124097958 124097958 + 5'Flank SNP C A A 2011-2271:2012-328-T g.chrX:124097958C>A uc004euj.2 - ODZ1_uc011muj.1_5'Flank|ODZ1_uc010nqy.2_5'Flank NM_014253 NP_055068 NOTCH2 4853 broad.mit.edu 37 1 120596746 120596746 + Intron SNP C G G 2011-2273:2012-370-T g.chr1:120596746C>G uc001eik.2 - NOTCH2_uc001eil.2_Intron|NOTCH2_uc001eim.3_Intron NM_024408 NP_077719 KIF26B 55083 broad.mit.edu 37 1 245607249 245607249 + Intron SNP C T T 2011-2273:2012-370-T g.chr1:245607249C>T uc001ibf.1 + KIF26B_uc010pyq.1_Intron NM_018012 NP_060482 ADARB2 105 broad.mit.edu 37 10 1282029 1282029 + Intron SNP C A A 2011-2273:2012-370-T g.chr10:1282029C>A uc009xhq.2 - NM_018702 NP_061172 GPR123 84435 broad.mit.edu 37 10 134924835 134924835 + Intron SNP C A A 2011-2273:2012-370-T g.chr10:134924835C>A uc001llx.3 + GPR123_uc001llw.2_Intron NM_001083909 NP_001077378 GPR123 84435 broad.mit.edu 37 10 134925339 134925339 + Intron SNP C A A rs28506134 by1000genomes 2011-2273:2012-370-T g.chr10:134925339C>A uc001llx.3 + GPR123_uc001llw.2_Intron NM_001083909 NP_001077378 AHNAK 79026 broad.mit.edu 37 11 62287137 62287137 + Missense_Mutation SNP C A A 2011-2273:2012-370-T g.chr11:62287137C>A uc001ntl.2 - 5 15052 c.14752G>T c.(14752-14754)GCT>TCT p.A4918S AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 LRTOMT 220074 broad.mit.edu 37 11 71792011 71792011 + Intron SNP C A A 2011-2273:2012-370-T g.chr11:71792011C>A uc001orr.2 + NUMA1_uc001ork.1_5'Flank|NUMA1_uc001orl.1_5'Flank|NUMA1_uc001orm.1_5'Flank|NUMA1_uc001oro.1_5'Flank|NUMA1_uc001orq.2_5'Flank|LRTOMT_uc009ysz.2_Intron|LRTOMT_uc010rqt.1_Intron|LRTOMT_uc010rqu.1_Intron|LRTOMT_uc009yta.2_Intron|LRTOMT_uc010rqv.1_Intron|LRTOMT_uc010rqw.1_Intron|LRTOMT_uc001ors.3_Intron|LRTOMT_uc010rqs.1_Intron NM_145309 NP_660352 ABHD13 84945 broad.mit.edu 37 13 108881578 108881578 + Silent SNP C A A 2011-2273:2012-370-T g.chr13:108881578C>A uc001vqq.2 + 2 277 c.12C>A c.(10-12)TCC>TCA p.S4S NM_032859 NP_116248 ATP11A 23250 broad.mit.edu 37 13 113527295 113527295 + Intron SNP G C C rs79516245 2011-2273:2012-370-T g.chr13:113527295G>C uc001vsi.3 + ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_Intron NM_015205 NP_056020 LMF1 64788 broad.mit.edu 37 16 908795 908795 + Intron SNP G T T 2011-2273:2012-370-T g.chr16:908795G>T uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 RPH3AL 9501 broad.mit.edu 37 17 138572 138572 + Intron SNP G A A 2011-2273:2012-370-T g.chr17:138572G>A uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 MYH2 4620 broad.mit.edu 37 17 10447016 10447016 + Intron SNP C A A 2011-2273:2012-370-T g.chr17:10447016C>A uc010coi.2 - uc002gml.1_Intron|MYH2_uc002gmp.3_Intron|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 PRKCA 5578 broad.mit.edu 37 17 64795560 64795560 + Intron SNP G A A 2011-2273:2012-370-T g.chr17:64795560G>A uc002jfp.1 + NM_002737 NP_002728 CACNG7 59284 broad.mit.edu 37 19 54427233 54427233 + Intron SNP G T T 2011-2273:2012-370-T g.chr19:54427233G>T uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 SNTG2 54221 broad.mit.edu 37 2 1104612 1104612 + Intron SNP G T T 2011-2273:2012-370-T g.chr2:1104612G>T uc002qwq.2 + SNTG2_uc002qwp.2_Intron|SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 PXDN 7837 broad.mit.edu 37 2 1708121 1708121 + Intron SNP A G G 2011-2273:2012-370-T g.chr2:1708121A>G uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 RMND5A 64795 broad.mit.edu 37 2 87633489 87633489 + Intron SNP G A A 2011-2273:2012-370-T g.chr2:87633489G>A uc002srs.3 + MYT1 4661 broad.mit.edu 37 20 62809920 62809920 + Intron SNP G A A rs1763009 2011-2273:2012-370-T g.chr20:62809920G>A uc002yii.2 + MYT1_uc002yih.2_Intron NM_004535 NP_004526 MPPED1 758 broad.mit.edu 37 22 43892313 43892313 + Intron SNP G A A 2011-2273:2012-370-T g.chr22:43892313G>A uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 MPPED1 758 broad.mit.edu 37 22 43892319 43892319 + Intron SNP G A A 2011-2273:2012-370-T g.chr22:43892319G>A uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 MUC4 4585 broad.mit.edu 37 3 195502311 195502311 + Intron SNP C T T 2011-2273:2012-370-T g.chr3:195502311C>T uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 MUC4 4585 broad.mit.edu 37 3 195502436 195502436 + Intron SNP C A A 2011-2273:2012-370-T g.chr3:195502436C>A uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 SLC10A7 84068 broad.mit.edu 37 4 147207501 147207501 + Intron SNP T G G 2011-2273:2012-370-T g.chr4:147207501T>G uc010ioz.2 - SLC10A7_uc003ikr.2_Intron|SLC10A7_uc010ipa.2_Intron|SLC10A7_uc003iks.2_Intron NM_001029998 NP_001025169 ADAMTS2 9509 broad.mit.edu 37 5 178562151 178562151 + Intron SNP C T T 2011-2273:2012-370-T g.chr5:178562151C>T uc003mjw.2 - NM_014244 NP_055059 PTPRN2 5799 broad.mit.edu 37 7 157355895 157355895 + Intron SNP A G G 2011-2273:2012-370-T g.chr7:157355895A>G uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|PTPRN2_uc003wnn.2_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158066168 158066168 + Intron SNP G A A 2011-2273:2012-370-T g.chr7:158066168G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158144777 158144777 + Intron SNP C G G 2011-2273:2012-370-T g.chr7:158144777C>G uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 UBR5 51366 broad.mit.edu 37 8 103358590 103358590 + Missense_Mutation SNP C A A 2011-2273:2012-370-T g.chr8:103358590C>A uc003ykr.1 - 7 643 c.610G>T c.(610-612)GTC>TTC p.V204F UBR5_uc003yks.1_Missense_Mutation_p.V204F NM_015902 NP_056986 ZFP41 286128 broad.mit.edu 37 8 144342202 144342202 + 3'UTR SNP G C C 2011-2273:2012-370-T g.chr8:144342202G>C uc003yxw.2 + 3 ZFP41_uc003yxv.2_Intron NM_173832 NP_776193 ZFP41 286128 broad.mit.edu 37 8 144342275 144342275 + 3'UTR SNP C T T 2011-2273:2012-370-T g.chr8:144342275C>T uc003yxw.2 + 3 ZFP41_uc003yxv.2_Intron NM_173832 NP_776193 ZFP41 286128 broad.mit.edu 37 8 144342309 144342309 + 3'UTR SNP C T T 2011-2273:2012-370-T g.chr8:144342309C>T uc003yxw.2 + 3 ZFP41_uc003yxv.2_Intron NM_173832 NP_776193 KIF1B 23095 broad.mit.edu 37 1 10399979 10399979 + Intron SNP C A A 2011-2275:2012-365-T g.chr1:10399979C>A uc001aqx.3 + KIF1B_uc001aqw.3_Intron|KIF1B_uc001aqy.2_Intron|KIF1B_uc001aqz.2_Intron|KIF1B_uc001ara.2_Intron|KIF1B_uc001arb.2_Intron NM_015074 NP_055889 CDH23 64072 broad.mit.edu 37 10 73448813 73448813 + Intron SNP G A A 2011-2275:2012-365-T g.chr10:73448813G>A uc001jrx.3 + CDH23_uc001jry.2_Intron|CDH23_uc001jrz.2_Intron NM_022124 NP_071407 FGFR2 2263 broad.mit.edu 37 10 123279795 123279795 + Intron SNP C T T rs2071616 by1000genomes 2011-2275:2012-365-T g.chr10:123279795C>T uc010qtk.1 - FGFR2_uc010qtg.1_Intron|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Intron|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_Intron|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfn.3_Intron|FGFR2_uc010qtn.1_Intron|FGFR2_uc010qto.1_Intron|FGFR2_uc001lfo.1_Intron|FGFR2_uc010qtp.1_Intron|FGFR2_uc001lfg.3_5'Flank NM_000141 NP_000132 ODF3 113746 broad.mit.edu 37 11 196091 196091 + 5'Flank SNP G C C 2011-2275:2012-365-T g.chr11:196091G>C uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 SART1 9092 broad.mit.edu 37 11 65738955 65738956 + Intron DNP TG GA GA rs71455797 2011-2275:2012-365-T g.chr11:65738955_65738956TG>GA uc001ogl.2 + NM_005146 NP_005137 NELL2 4753 broad.mit.edu 37 12 45000936 45000936 + Intron SNP G A A 2011-2275:2012-365-T g.chr12:45000936G>A uc001rog.2 - NELL2_uc001rof.3_Intron|NELL2_uc001roh.2_Intron|NELL2_uc009zkd.2_Intron|NELL2_uc010skz.1_Intron|NELL2_uc010sla.1_Intron|NELL2_uc001roi.1_Intron|NELL2_uc010slb.1_Intron NM_001145108 NP_001138580 TMEM120B 144404 broad.mit.edu 37 12 122185451 122185451 + Intron SNP C T T 2011-2275:2012-365-T g.chr12:122185451C>T uc001ubc.3 + TMEM120B_uc009zxh.2_Intron NM_001080825 NP_001074294 MYH6 4624 broad.mit.edu 37 14 23863500 23863500 + Missense_Mutation SNP C A A 2011-2275:2012-365-T g.chr14:23863500C>A uc001wjv.2 - 21 2529 c.2462G>T c.(2461-2463)CGG>CTG p.R821L NM_002471 NP_002462 SYNE2 23224 broad.mit.edu 37 14 64457294 64457294 + Intron SNP C A A 2011-2275:2012-365-T g.chr14:64457294C>A uc001xgm.2 + SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 PPP4R4 57718 broad.mit.edu 37 14 94708102 94708102 + Intron SNP C A A 2011-2275:2012-365-T g.chr14:94708102C>A uc001ycs.1 + NM_058237 NP_478144 LMF1 64788 broad.mit.edu 37 16 908252 908252 + Intron SNP A G G 2011-2275:2012-365-T g.chr16:908252A>G uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 RPL3L 6123 broad.mit.edu 37 16 1999860 1999860 + Intron SNP T G G 2011-2275:2012-365-T g.chr16:1999860T>G uc002cnh.2 - NM_005061 NP_005052 CBFA2T3 863 broad.mit.edu 37 16 89022128 89022128 + Intron SNP C G G 2011-2275:2012-365-T g.chr16:89022128C>G uc002fmm.1 - CBFA2T3_uc002fmn.1_Intron NM_005187 NP_005178 ABR 29 broad.mit.edu 37 17 1022603 1022603 + Intron SNP T C C 2011-2275:2012-365-T g.chr17:1022603T>C uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 ABR 29 broad.mit.edu 37 17 1046317 1046317 + Intron SNP G A A 2011-2275:2012-365-T g.chr17:1046317G>A uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 NF1 4763 broad.mit.edu 37 17 29654769 29654769 + Missense_Mutation SNP C A A 2011-2275:2012-365-T g.chr17:29654769C>A uc002hgg.2 + 38 5854 c.5521C>A c.(5521-5523)CAA>AAA p.Q1841K NF1_uc002hgh.2_Missense_Mutation_p.Q1820K|NF1_uc002hgi.1_Missense_Mutation_p.Q853K|NF1_uc010cso.2_Missense_Mutation_p.Q29K NM_001042492 NP_001035957 PRKCA 5578 broad.mit.edu 37 17 64795388 64795388 + Intron SNP G T T 2011-2275:2012-365-T g.chr17:64795388G>T uc002jfp.1 + NM_002737 NP_002728 PRKCA 5578 broad.mit.edu 37 17 64799949 64799949 + Intron SNP C A A 2011-2275:2012-365-T g.chr17:64799949C>A uc002jfp.1 + NM_002737 NP_002728 GALR1 2587 broad.mit.edu 37 18 74964969 74964969 + Intron SNP C T T 2011-2275:2012-365-T g.chr18:74964969C>T uc002lms.3 + NM_001480 NP_001471 OSCAR 126014 broad.mit.edu 37 19 54599647 54599647 + Intron SNP C G G rs113089938 2011-2275:2012-365-T g.chr19:54599647C>G uc002qdd.2 - OSCAR_uc002qcy.2_Intron|OSCAR_uc002qcz.2_Intron|OSCAR_uc002qda.2_Intron|OSCAR_uc002qdb.2_Intron|OSCAR_uc010erc.2_Intron|OSCAR_uc002qdc.2_Intron NM_206818 NP_996554 ADD2 119 broad.mit.edu 37 2 70838494 70838494 + Intron SNP C T T 2011-2275:2012-365-T g.chr2:70838494C>T uc010fds.1 - NM_001617 RMND5A 64795 broad.mit.edu 37 2 87634181 87634181 + Intron SNP G A A 2011-2275:2012-365-T g.chr2:87634181G>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87645932 87645932 + Intron SNP C T T 2011-2275:2012-365-T g.chr2:87645932C>T uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87645970 87645970 + Intron SNP C A A 2011-2275:2012-365-T g.chr2:87645970C>A uc002srs.3 + TTN 7273 broad.mit.edu 37 2 179438189 179438189 + Missense_Mutation SNP C A A 2011-2275:2012-365-T g.chr2:179438189C>A uc010zfg.1 - 275 65190 c.64966G>T c.(64966-64968)GAT>TAT p.D21656Y uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D15351Y|TTN_uc010zfi.1_Missense_Mutation_p.D15284Y|TTN_uc010zfj.1_Missense_Mutation_p.D15159Y NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179635307 179635307 + Missense_Mutation SNP C A A 2011-2275:2012-365-T g.chr2:179635307C>A uc010zfg.1 - 35 8436 c.8212G>T c.(8212-8214)GTC>TTC p.V2738F TTN_uc010zfh.1_Missense_Mutation_p.V2692F|TTN_uc010zfi.1_Missense_Mutation_p.V2692F|TTN_uc010zfj.1_Missense_Mutation_p.V2692F|TTN_uc002unb.2_Missense_Mutation_p.V2738F NM_133378 NP_596869 TPTE 7179 broad.mit.edu 37 21 10996134 10996134 + RNA SNP C A A 2011-2275:2012-365-T g.chr21:10996134C>A uc002yis.1 - 12 c.2052G>T BAGE2 85319 broad.mit.edu 37 21 11040713 11040713 + Intron SNP C T T rs6582745 2011-2275:2012-365-T g.chr21:11040713C>T uc002yit.1 - TPTE_uc002yis.1_5'Flank NM_182482 NP_872288 PCBP3 54039 broad.mit.edu 37 21 47235517 47235517 + Intron SNP G A A 2011-2275:2012-365-T g.chr21:47235517G>A uc010gqb.2 + NM_020528 NP_065389 MICAL3 57553 broad.mit.edu 37 22 18359631 18359631 + Intron SNP G T T 2011-2275:2012-365-T g.chr22:18359631G>T uc002zng.3 - MICAL3_uc011agl.1_Intron|MICAL3_uc002znh.2_Intron|MICAL3_uc002znj.1_Intron|MICAL3_uc002znk.1_Intron|MICAL3_uc002znl.1_Intron|MICAL3_uc002znm.2_Intron|MICAL3_uc010grf.2_Intron NM_015241 NP_056056 MICAL3 57553 broad.mit.edu 37 22 18360088 18360088 + Intron SNP T G G rs139667956 2011-2275:2012-365-T g.chr22:18360088T>G uc002zng.3 - MICAL3_uc011agl.1_Intron|MICAL3_uc002znh.2_Intron|MICAL3_uc002znj.1_Intron|MICAL3_uc002znk.1_Intron|MICAL3_uc002znl.1_Intron|MICAL3_uc002znm.2_Intron|MICAL3_uc010grf.2_Intron NM_015241 NP_056056 MPPED1 758 broad.mit.edu 37 22 43891995 43891995 + Intron SNP G A A 2011-2275:2012-365-T g.chr22:43891995G>A uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 POLQ 10721 broad.mit.edu 37 3 121265176 121265176 + 5'Flank SNP G A A rs3806614 by1000genomes 2011-2275:2012-365-T g.chr3:121265176G>A uc003eee.3 - NM_199420 NP_955452 PPP2R2C 5522 broad.mit.edu 37 4 6513609 6513609 + Intron SNP G A A 2011-2275:2012-365-T g.chr4:6513609G>A uc011bwd.1 - PPP2R2C_uc011bwe.1_Intron NM_181876 NP_870991 PPP2R2C 5522 broad.mit.edu 37 4 6513627 6513627 + Intron SNP G A A 2011-2275:2012-365-T g.chr4:6513627G>A uc011bwd.1 - PPP2R2C_uc011bwe.1_Intron NM_181876 NP_870991 FAT1 2195 broad.mit.edu 37 4 187557145 187557145 + Intron SNP C A A 2011-2275:2012-365-T g.chr4:187557145C>A uc003izf.2 - NM_005245 NP_005236 HLA-B 3106 broad.mit.edu 37 6 31240041 31240041 + Intron SNP C T T rs2524094 2011-2275:2012-365-T g.chr6:31240041C>T uc003ntf.2 - HLA-C_uc011dnj.1_5'Flank|HLA-C_uc003nsx.2_5'Flank|HLA-C_uc003nsy.2_5'Flank|HLA-C_uc003nsz.2_5'Flank|HLA-C_uc010jsl.2_5'Flank|HLA-C_uc003nta.2_5'Flank|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_5'Flank TAP1 6890 broad.mit.edu 37 6 32816958 32816958 + Intron SNP G A A rs4148882 by1000genomes 2011-2275:2012-365-T g.chr6:32816958G>A uc003ocg.2 - TAP1_uc011dqi.1_Intron NM_000593 NP_000584 SYNE1 23345 broad.mit.edu 37 6 152725255 152725255 + Intron SNP C T T rs71940719 2011-2275:2012-365-T g.chr6:152725255C>T uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron NM_182961 NP_892006 PIK3CG 5294 broad.mit.edu 37 7 106510076 106510076 + Intron SNP A G G rs1526083 byFrequency;by1000genomes 2011-2275:2012-365-T g.chr7:106510076A>G uc003vdv.3 + PIK3CG_uc003vdu.2_Intron|PIK3CG_uc003vdw.2_Intron NM_002649 NP_002640 PTPRN2 5799 broad.mit.edu 37 7 157941188 157941188 + Intron SNP G A A 2011-2275:2012-365-T g.chr7:157941188G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 UBR5 51366 broad.mit.edu 37 8 103358590 103358590 + Missense_Mutation SNP C A A 2011-2275:2012-365-T g.chr8:103358590C>A uc003ykr.1 - 7 643 c.610G>T c.(610-612)GTC>TTC p.V204F UBR5_uc003yks.1_Missense_Mutation_p.V204F NM_015902 NP_056986 HEATR7A 727957 broad.mit.edu 37 8 145288295 145288295 + Intron SNP C A A rs11779369 2011-2275:2012-365-T g.chr8:145288295C>A uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 ADAMTSL1 92949 broad.mit.edu 37 9 18753341 18753341 + Silent SNP C A A 2011-2275:2012-365-T g.chr9:18753341C>A uc003zne.3 + 16 2179 c.2052C>A c.(2050-2052)GTC>GTA p.V684V NM_001040272 NP_001035362 PPP2R3B 28227 broad.mit.edu 37 X 303244 303244 + Intron SNP G A A 2011-2275:2012-365-T g.chrX:303244G>A uc004cpg.2 - PPP2R3B_uc004cpf.2_5'Flank NM_013239 NP_037371 PRDM16 63976 broad.mit.edu 37 1 3296151 3296151 + Intron SNP C A A 2011-2276:2012-364-T g.chr1:3296151C>A uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 PRDM16 63976 broad.mit.edu 37 1 3296172 3296172 + Intron SNP G A A rs149875568 by1000genomes 2011-2276:2012-364-T g.chr1:3296172G>A uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 IRF6 3664 broad.mit.edu 37 1 209968904 209968904 + Intron SNP G A A 2011-2276:2012-364-T g.chr1:209968904G>A uc001hhq.1 - IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Intron NM_006147 NP_006138 ADARB2 105 broad.mit.edu 37 10 1502263 1502263 + Intron SNP G A A 2011-2276:2012-364-T g.chr10:1502263G>A uc009xhq.2 - NM_018702 NP_061172 AP2A2 161 broad.mit.edu 37 11 994797 994797 + Intron SNP G C C 2011-2276:2012-364-T g.chr11:994797G>C uc001lss.2 + AP2A2_uc001lst.1_Intron|AP2A2_uc009yco.1_Intron NM_012305 NP_036437 SNTG2 54221 broad.mit.edu 37 2 1285151 1285151 + Intron SNP G A A 2011-2276:2012-364-T g.chr2:1285151G>A uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 RMND5A 64795 broad.mit.edu 37 2 87644221 87644221 + Intron SNP A T T 2011-2276:2012-364-T g.chr2:87644221A>T uc002srs.3 + TTN 7273 broad.mit.edu 37 2 179415741 179415741 + Missense_Mutation SNP C A A 2011-2276:2012-364-T g.chr2:179415741C>A uc010zfg.1 - 285 84037 c.83813G>T c.(83812-83814)AGC>ATC p.S27938I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S21633I|TTN_uc010zfi.1_Missense_Mutation_p.S21566I|TTN_uc010zfj.1_Missense_Mutation_p.S21441I NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179424144 179424144 + Missense_Mutation SNP T A A 2011-2276:2012-364-T g.chr2:179424144T>A uc010zfg.1 - 275 79235 c.79011A>T c.(79009-79011)AAA>AAT p.K26337N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K20032N|TTN_uc010zfi.1_Missense_Mutation_p.K19965N|TTN_uc010zfj.1_Missense_Mutation_p.K19840N NM_133378 NP_596869 C21orf56 84221 broad.mit.edu 37 21 47590621 47590621 + Intron SNP G A A 2011-2276:2012-364-T g.chr21:47590621G>A uc011afu.1 - C21orf56_uc002zii.2_Intron NM_001142854 NP_001136326 PIK3CA 5290 broad.mit.edu 37 3 178916726 178916726 + Missense_Mutation SNP G A A 2011-2276:2012-364-T g.chr3:178916726G>A uc003fjk.2 + 2 270 c.113G>A c.(112-114)CGT>CAT p.R38H NM_006218 NP_006209 TP63 8626 broad.mit.edu 37 3 189590824 189590824 + Intron SNP G C C rs9840359 byFrequency;by1000genomes 2011-2276:2012-364-T g.chr3:189590824G>C uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsa.2_3'UTR|TP63_uc003fsb.2_Intron|TP63_uc003fsc.2_Intron|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Intron NM_003722 NP_003713 SLC10A7 84068 broad.mit.edu 37 4 147207574 147207574 + Intron SNP G A A 2011-2276:2012-364-T g.chr4:147207574G>A uc010ioz.2 - SLC10A7_uc003ikr.2_Intron|SLC10A7_uc010ipa.2_Intron|SLC10A7_uc003iks.2_Intron NM_001029998 NP_001025169 TERT 7015 broad.mit.edu 37 5 1276197 1276197 + Intron SNP C A A 2011-2276:2012-364-T g.chr5:1276197C>A uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 ADAMTS12 81792 broad.mit.edu 37 5 33751613 33751613 + Missense_Mutation SNP T G G 2011-2276:2012-364-T g.chr5:33751613T>G uc003jia.1 - 3 693 c.530A>C c.(529-531)GAA>GCA p.E177A ADAMTS12_uc010iuq.1_Missense_Mutation_p.E177A|ADAMTS12_uc003jib.1_Missense_Mutation_p.E177A NM_030955 NP_112217 HLA-G 3135 broad.mit.edu 37 6 29858004 29858004 + Intron SNP T C C 2011-2276:2012-364-T g.chr6:29858004T>C uc011dmb.1 + HLA-H_uc003nod.2_Intron NM_002127 NP_002118 RPS6KA2 6196 broad.mit.edu 37 6 166863410 166863410 + Intron SNP C G G rs111344944 by1000genomes 2011-2276:2012-364-T g.chr6:166863410C>G uc003qvb.1 - RPS6KA2_uc011ego.1_Intron|RPS6KA2_uc010kkl.1_Intron|RPS6KA2_uc003qvc.1_Intron|RPS6KA2_uc003qvd.1_Intron NM_021135 NP_066958 INPP5A 3632 broad.mit.edu 37 10 134484950 134484950 + Intron SNP G C C rs139851380 by1000genomes 2011-2277:2012-372-T g.chr10:134484950G>C uc001llp.2 + INPP5A_uc001llo.1_Intron|INPP5A_uc001llq.2_Intron NM_005539 NP_005530 SART1 9092 broad.mit.edu 37 11 65738937 65738937 + Intron SNP G A A 2011-2277:2012-372-T g.chr11:65738937G>A uc001ogl.2 + NM_005146 NP_005137 ASCL4 121549 broad.mit.edu 37 12 108168706 108168706 + 5'UTR SNP G A A rs61938581 by1000genomes 2011-2277:2012-372-T g.chr12:108168706G>A uc001tmr.2 + 1 NM_203436 NP_982260 FLT3 2322 broad.mit.edu 37 13 28624263 28624263 + Silent SNP C A A 2011-2277:2012-372-T g.chr13:28624263C>A uc001urw.2 - 6 793 c.711G>T c.(709-711)CTG>CTT p.L237L FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.L237L NM_004119 NP_004110 F7 2155 broad.mit.edu 37 13 113761762 113761762 + Intron SNP A T T 2011-2277:2012-372-T g.chr13:113761762A>T uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 GRK1 6011 broad.mit.edu 37 13 114430970 114430970 + Intron SNP T G G 2011-2277:2012-372-T g.chr13:114430970T>G uc010tkf.1 + NM_002929 NP_002920 GRK1 6011 broad.mit.edu 37 13 114431021 114431021 + Intron SNP C T T 2011-2277:2012-372-T g.chr13:114431021C>T uc010tkf.1 + NM_002929 NP_002920 SYNE2 23224 broad.mit.edu 37 14 64340321 64340321 + Intron SNP A G G rs8015354 by1000genomes 2011-2277:2012-372-T g.chr14:64340321A>G uc001xgm.2 + SYNE2_uc001xgk.2_Intron|SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64428154 64428154 + Intron SNP A G G rs1255884 by1000genomes 2011-2277:2012-372-T g.chr14:64428154A>G uc001xgm.2 + SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 FOXN3 1112 broad.mit.edu 37 14 89828275 89828275 + Intron SNP G C C 2011-2277:2012-372-T g.chr14:89828275G>C uc001xxo.3 - FOXN3_uc001xxn.3_Intron|FOXN3_uc010atk.2_Intron NM_001085471 NP_001078940 ZNF276 92822 broad.mit.edu 37 16 89805261 89805261 + 3'UTR SNP A G G rs1800359 byFrequency;by1000genomes 2011-2277:2012-372-T g.chr16:89805261A>G uc002fos.3 + 11 ZNF276_uc010ciq.2_3'UTR|ZNF276_uc002foq.3_3'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_3'UTR|ZNF276_uc010cis.2_3'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_3'UTR|FANCA_uc002fou.1_Intron|FANCA_uc010vpn.1_Intron NM_001113525 NP_001106997 FANCA 2175 broad.mit.edu 37 16 89806343 89806343 + Intron SNP C A A rs11647746 byFrequency;by1000genomes 2011-2277:2012-372-T g.chr16:89806343C>A uc002fou.1 - ZNF276_uc010ciq.2_3'UTR|ZNF276_uc002foq.3_3'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_3'UTR|ZNF276_uc010cis.2_3'UTR|ZNF276_uc002fos.3_3'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_3'UTR|FANCA_uc010vpn.1_Intron|FANCA_uc010vpo.1_Missense_Mutation_p.L417F NM_000135 NP_000126 FANCA 2175 broad.mit.edu 37 16 89806347 89806347 + Intron SNP A T T rs7195906 byFrequency;by1000genomes 2011-2277:2012-372-T g.chr16:89806347A>T uc002fou.1 - ZNF276_uc010ciq.2_3'UTR|ZNF276_uc002foq.3_3'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_3'UTR|ZNF276_uc010cis.2_3'UTR|ZNF276_uc002fos.3_3'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_3'UTR|FANCA_uc010vpn.1_Intron|FANCA_uc010vpo.1_Missense_Mutation_p.I416N NM_000135 NP_000126 FANCA 2175 broad.mit.edu 37 16 89849583 89849583 + Intron SNP C T T rs2239360 by1000genomes 2011-2277:2012-372-T g.chr16:89849583C>T uc002fou.1 - FANCA_uc010vpn.1_Intron NM_000135 NP_000126 FANCA 2175 broad.mit.edu 37 16 89849629 89849629 + Intron SNP T A A rs12448860 byFrequency;by1000genomes 2011-2277:2012-372-T g.chr16:89849629T>A uc002fou.1 - FANCA_uc010vpn.1_Intron NM_000135 NP_000126 FANCA 2175 broad.mit.edu 37 16 89857964 89857964 + Intron SNP T C C rs1800330 byFrequency;by1000genomes 2011-2277:2012-372-T g.chr16:89857964T>C uc002fou.1 - FANCA_uc010vpn.1_Intron NM_000135 NP_000126 FANCA 2175 broad.mit.edu 37 16 89858525 89858525 + Intron SNP C G G rs1800287 byFrequency;by1000genomes 2011-2277:2012-372-T g.chr16:89858525C>G uc002fou.1 - FANCA_uc010vpn.1_Intron NM_000135 NP_000126 RPH3AL 9501 broad.mit.edu 37 17 164418 164418 + Intron SNP T A A 2011-2277:2012-372-T g.chr17:164418T>A uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 BRCA1 672 broad.mit.edu 37 17 41219560 41219560 + Intron SNP C T T rs8176235 by1000genomes 2011-2277:2012-372-T g.chr17:41219560C>T uc002icq.2 - BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Intron|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Intron|BRCA1_uc002ict.2_Intron|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron NM_007294 NP_009225 BRCA1 672 broad.mit.edu 37 17 41277187 41277187 + Intron SNP G C C rs799905 by1000genomes 2011-2277:2012-372-T g.chr17:41277187G>C uc002icq.2 - BRCA1_uc010whp.1_Intron|NBR2_uc002idf.2_5'Flank|NBR2_uc010czb.1_5'Flank|NBR2_uc002idg.2_5'Flank|NBR2_uc002idh.2_5'Flank|BRCA1_uc010whl.1_5'Flank|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Intron|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Intron|BRCA1_uc002ict.2_Intron|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_5'Flank|BRCA1_uc010cyy.1_Intron|BRCA1_uc010whs.1_Intron|BRCA1_uc010cyz.2_Intron|BRCA1_uc010cza.2_Intron|BRCA1_uc010wht.1_Intron NM_007294 NP_009225 MED16 10025 broad.mit.edu 37 19 879255 879255 + Intron SNP G A A rs111756427 by1000genomes 2011-2277:2012-372-T g.chr19:879255G>A uc002lqd.1 - MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Intron|MED16_uc002lqf.2_Intron|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron NM_005481 NP_005472 ZNF83 55769 broad.mit.edu 37 19 53116804 53116804 + Missense_Mutation SNP G C C 2011-2277:2012-372-T g.chr19:53116804G>C uc002pzu.3 - 2 2258 c.1014C>G c.(1012-1014)ATC>ATG p.I338M ZNF83_uc002pzv.3_Missense_Mutation_p.I338M|ZNF83_uc010eps.2_Missense_Mutation_p.I310M|ZNF83_uc010ept.2_Missense_Mutation_p.I338M|ZNF83_uc010epu.2_Missense_Mutation_p.I338M|ZNF83_uc010epv.2_Missense_Mutation_p.I338M|ZNF83_uc010epw.2_Missense_Mutation_p.I338M|ZNF83_uc010epx.2_Missense_Mutation_p.I310M|ZNF83_uc010epy.2_Missense_Mutation_p.I338M|ZNF83_uc010epz.2_Missense_Mutation_p.I310M NM_018300 NP_060770 LRP1B 53353 broad.mit.edu 37 2 141253408 141253408 + Intron SNP T C C rs11683334 by1000genomes 2011-2277:2012-372-T g.chr2:141253408T>C uc002tvj.1 - NM_018557 NP_061027 PAK7 57144 broad.mit.edu 37 20 9543688 9543688 + Intron SNP T G G rs2297347 by1000genomes 2011-2277:2012-372-T g.chr20:9543688T>G uc002wnl.2 - PAK7_uc002wnk.2_Intron|PAK7_uc002wnj.2_Intron|PAK7_uc010gby.1_Intron NM_020341 NP_065074 MX2 4600 broad.mit.edu 37 21 42770884 42770884 + Missense_Mutation SNP C A A 2011-2277:2012-372-T g.chr21:42770884C>A uc002yzf.1 + 9 1314 c.1210C>A c.(1210-1212)CTG>ATG p.L404M MX2_uc011aer.1_RNA|MX2_uc002yzg.1_Missense_Mutation_p.L127M|MX2_uc010gop.1_Translation_Start_Site NM_002463 NP_002454 CHL1 10752 broad.mit.edu 37 3 304032 304032 + Intron SNP C T T 2011-2277:2012-372-T g.chr3:304032C>T uc003bou.2 + CHL1_uc003bot.2_Intron|CHL1_uc003bow.1_Intron NM_006614 NP_006605 TP63 8626 broad.mit.edu 37 3 189456729 189456729 + Intron SNP C G G rs4686525 by1000genomes 2011-2277:2012-372-T g.chr3:189456729C>G uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron NM_003722 NP_003713 MUC4 4585 broad.mit.edu 37 3 195491180 195491180 + Intron SNP C T T rs55693102 2011-2277:2012-372-T g.chr3:195491180C>T uc011bto.1 - MUC4_uc003fuz.2_Intron|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 FAT2 2196 broad.mit.edu 37 5 150889805 150889805 + Intron SNP A T T rs6870300 by1000genomes 2011-2277:2012-372-T g.chr5:150889805A>T uc003lue.3 - GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Intron NM_001447 NP_001438 FAT2 2196 broad.mit.edu 37 5 150942774 150942774 + Intron SNP A G G rs10069901 by1000genomes 2011-2277:2012-372-T g.chr5:150942774A>G uc003lue.3 - GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Intron NM_001447 NP_001438 TAP2 6891 broad.mit.edu 37 6 32797361 32797361 + Intron SNP C T T rs241440 by1000genomes 2011-2277:2012-372-T g.chr6:32797361C>T uc003occ.2 - TAP2_uc011dqf.1_Intron|TAP2_uc003ocb.1_Intron|TAP2_uc003ocd.2_Intron NM_018833 NP_061313 TAP2 6891 broad.mit.edu 37 6 32797684 32797684 + Intron SNP A G G rs241437 by1000genomes 2011-2277:2012-372-T g.chr6:32797684A>G uc003occ.2 - TAP2_uc011dqf.1_Intron|TAP2_uc003ocb.1_Intron|TAP2_uc003ocd.2_Intron NM_018833 NP_061313 TAP1 6890 broad.mit.edu 37 6 32818678 32818678 + Intron SNP G A A rs2071538 by1000genomes 2011-2277:2012-372-T g.chr6:32818678G>A uc003ocg.2 - TAP1_uc011dqi.1_Intron NM_000593 NP_000584 EPHB4 2050 broad.mit.edu 37 7 100411311 100411311 + Silent SNP T C C 2011-2277:2012-372-T g.chr7:100411311T>C uc003uwn.1 - 10 2210 c.1719A>G c.(1717-1719)GAA>GAG p.E573E EPHB4_uc003uwm.1_Silent_p.E480E|EPHB4_uc010lhj.1_Silent_p.E573E NM_004444 NP_004435 MLL3 58508 broad.mit.edu 37 7 151864139 151864139 + Intron SNP A C C 2011-2277:2012-372-T g.chr7:151864139A>C uc003wla.2 - MLL3_uc003wkz.2_Intron|MLL3_uc003wky.2_Intron NM_170606 NP_733751 PTPRN2 5799 broad.mit.edu 37 7 157980930 157980930 + Intron SNP G A A 2011-2277:2012-372-T g.chr7:157980930G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PKHD1L1 93035 broad.mit.edu 37 8 110511010 110511010 + Intron SNP C A A 2011-2277:2012-372-T g.chr8:110511010C>A uc003yne.2 + NM_177531 NP_803875 NOTCH1 4851 broad.mit.edu 37 9 139397707 139397707 + Silent SNP G A A rs10521 by1000genomes 2011-2277:2012-372-T g.chr9:139397707G>A uc004chz.2 - 27 5094 c.5094C>T c.(5092-5094)GAC>GAT p.D1698D NOTCH1_uc004cia.1_Silent_p.D928D NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139400904 139400904 + Intron SNP C T T rs4880098 by1000genomes 2011-2277:2012-372-T g.chr9:139400904C>T uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 PNPLA7 375775 broad.mit.edu 37 9 140411803 140411803 + Intron SNP A G G 2011-2277:2012-372-T g.chr9:140411803A>G uc004cnf.2 - PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Intron NM_152286 NP_689499 HSFX2 100130086 broad.mit.edu 37 X 148687158 148687158 + Intron SNP T A A 2011-2277:2012-372-T g.chrX:148687158T>A uc004fdl.2 - HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Intron|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc011mxq.1_Intron|TMEM185A_uc004fdp.3_Intron NM_016153 NP_057237 PRDM16 63976 broad.mit.edu 37 1 3082136 3082136 + Intron SNP G C C 2011-2278:2012-1320-T g.chr1:3082136G>C uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 CHD5 26038 broad.mit.edu 37 1 6196943 6196943 + Intron SNP A G G rs2746066 by1000genomes 2011-2278:2012-1320-T g.chr1:6196943A>G uc001amb.1 - CHD5_uc001ama.1_Intron|CHD5_uc001amc.1_Intron|CHD5_uc009vlx.1_5'Flank NM_015557 NP_056372 CHD5 26038 broad.mit.edu 37 1 6196951 6196951 + Intron SNP T A A rs2785582 by1000genomes 2011-2278:2012-1320-T g.chr1:6196951T>A uc001amb.1 - CHD5_uc001ama.1_Intron|CHD5_uc001amc.1_Intron|CHD5_uc009vlx.1_5'Flank NM_015557 NP_056372 KAZ 23254 broad.mit.edu 37 1 15375046 15375046 + Intron SNP T C C rs72639851 by1000genomes 2011-2278:2012-1320-T g.chr1:15375046T>C uc001avm.3 + KAZ_uc009vog.1_Intron|KAZ_uc010obj.1_Intron|KAZ_uc001avo.2_Intron|KAZ_uc001avp.2_Intron|KAZ_uc001avq.2_Intron|KAZ_uc001avr.2_Intron NM_201628 NP_963922 EPHA2 1969 broad.mit.edu 37 1 16460212 16460212 + Intron SNP G A A 2011-2278:2012-1320-T g.chr1:16460212G>A uc001aya.1 - NM_004431 NP_004422 MPL 4352 broad.mit.edu 37 1 43803222 43803222 + 5'Flank SNP G A A rs710252 by1000genomes 2011-2278:2012-1320-T g.chr1:43803222G>A uc001ciw.2 + MPL_uc001civ.2_5'Flank|MPL_uc009vwr.2_5'Flank NM_005373 NP_005364 LDLRAD1 388633 broad.mit.edu 37 1 54483694 54483694 + Intron SNP C T T rs34764952 by1000genomes 2011-2278:2012-1320-T g.chr1:54483694C>T uc001cwm.1 - LDLRAD1_uc010onz.1_Intron|LDLRAD1_uc010ooa.1_Intron|LDLRAD1_uc009vzn.1_Intron NM_001010978 NP_001010978 PDE4DIP 9659 broad.mit.edu 37 1 144922171 144922171 + Intron SNP C T T rs1343470 2011-2278:2012-1320-T g.chr1:144922171C>T uc001elw.3 - NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001emc.1_Intron|PDE4DIP_uc001emd.1_Intron|PDE4DIP_uc001emb.1_Intron|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Intron NM_014644 NP_055459 GATA3 2625 broad.mit.edu 37 10 8097368 8097368 + 5'UTR SNP G A A rs10905277 byFrequency;by1000genomes 2011-2278:2012-1320-T g.chr10:8097368G>A uc001ika.2 + 2 FLJ45983_uc010qbe.1_5'Flank|FLJ45983_uc001ijx.1_5'Flank|FLJ45983_uc010qbf.1_5'Flank|FLJ45983_uc010qbg.1_5'Flank|FLJ45983_uc001ijy.1_5'Flank|GATA3_uc001ijz.2_5'UTR NM_002051 NP_002042 TSPAN9 10867 broad.mit.edu 37 12 3307045 3307045 + Intron SNP T C C rs146495500 by1000genomes 2011-2278:2012-1320-T g.chr12:3307045T>C uc001qlp.2 + NM_006675 NP_006666 GALNT9 50614 broad.mit.edu 37 12 132868091 132868091 + Intron SNP T C C rs148751841 by1000genomes 2011-2278:2012-1320-T g.chr12:132868091T>C uc001ukc.3 - GALNT9_uc009zys.2_Intron NM_001122636 NP_001116108 SYNE2 23224 broad.mit.edu 37 14 64560142 64560142 + Missense_Mutation SNP C G G 2011-2278:2012-1320-T g.chr14:64560142C>G uc001xgm.2 + 61 12282 c.12052C>G c.(12052-12054)CAG>GAG p.Q4018E SYNE2_uc001xgl.2_Missense_Mutation_p.Q4018E|SYNE2_uc010apy.2_Missense_Mutation_p.Q403E|SYNE2_uc010apx.1_Missense_Mutation_p.Q410E NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64675895 64675895 + Intron SNP C T T rs1152593 by1000genomes 2011-2278:2012-1320-T g.chr14:64675895C>T uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_5'Flank NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64676098 64676098 + Intron SNP A G G rs1152592 by1000genomes 2011-2278:2012-1320-T g.chr14:64676098A>G uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_5'UTR NM_015180 NP_055995 ABAT 18 broad.mit.edu 37 16 8807100 8807100 + Intron SNP G T T rs1060784 by1000genomes 2011-2278:2012-1320-T g.chr16:8807100G>T uc002czc.3 + ABAT_uc002czd.3_5'UTR|ABAT_uc010buh.2_5'UTR NM_020686 NP_065737 CYLD 1540 broad.mit.edu 37 16 50828333 50828333 + Missense_Mutation SNP C G G 2011-2278:2012-1320-T g.chr16:50828333C>G uc002egp.1 + 18 3095 c.2680C>G c.(2680-2682)CGG>GGG p.R894G CYLD_uc010cbs.1_Missense_Mutation_p.R891G|CYLD_uc002egq.1_Missense_Mutation_p.R891G|CYLD_uc002egr.1_Missense_Mutation_p.R891G NM_015247 NP_056062 USP6 9098 broad.mit.edu 37 17 5031436 5031436 + Intron SNP C A A rs3853647 by1000genomes 2011-2278:2012-1320-T g.chr17:5031436C>A uc002gau.1 + USP6_uc002gav.1_5'Flank|USP6_uc010ckz.1_5'Flank|USP6_uc002gaw.2_5'Flank NM_004505 NP_004496 USP6 9098 broad.mit.edu 37 17 5031946 5031946 + Intron SNP G A A rs2071456 by1000genomes 2011-2278:2012-1320-T g.chr17:5031946G>A uc002gau.1 + USP6_uc002gav.1_5'UTR|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.2_5'Flank NM_004505 NP_004496 MYH13 8735 broad.mit.edu 37 17 10235360 10235360 + Intron SNP G C C rs8064714 by1000genomes 2011-2278:2012-1320-T g.chr17:10235360G>C uc002gmk.1 - NM_003802 NP_003793 SETBP1 26040 broad.mit.edu 37 18 42260994 42260994 + Intron SNP T C C 2011-2278:2012-1320-T g.chr18:42260994T>C uc010dni.2 + SETBP1_uc002lay.2_Intron NM_015559 NP_056374 CYP2F1 1572 broad.mit.edu 37 19 41724820 41724820 + Intron SNP G A A rs2301236 by1000genomes 2011-2278:2012-1320-T g.chr19:41724820G>A uc010xvw.1 + AXL_uc010ehi.1_5'Flank|AXL_uc010ehj.2_5'Flank|AXL_uc010ehk.2_5'Flank CASP8 841 broad.mit.edu 37 2 202150089 202150089 + Intron SNP C T T rs34750049 2011-2278:2012-1320-T g.chr2:202150089C>T uc002uxr.1 + CASP8_uc002uxp.1_Intron|CASP8_uc002uxq.1_Intron|CASP8_uc002uxt.1_Intron|CASP8_uc002uxu.1_Intron|CASP8_uc002uxw.1_Intron|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Intron NM_033355 NP_203519 TAF4 6874 broad.mit.edu 37 20 60553687 60553687 + Intron SNP A G G rs79482470 by1000genomes 2011-2278:2012-1320-T g.chr20:60553687A>G uc002ybs.2 - NM_003185 NP_003176 TAF4 6874 broad.mit.edu 37 20 60554803 60554803 + Intron SNP T G G rs62207106 by1000genomes 2011-2278:2012-1320-T g.chr20:60554803T>G uc002ybs.2 - NM_003185 NP_003176 POLQ 10721 broad.mit.edu 37 3 121241058 121241058 + Intron SNP C G G rs13059229 by1000genomes 2011-2278:2012-1320-T g.chr3:121241058C>G uc003eee.3 - NM_199420 NP_955452 HLA-F 3134 broad.mit.edu 37 6 29692729 29692729 + Intron SNP T G G rs2072898 by1000genomes 2011-2278:2012-1320-T g.chr6:29692729T>G uc010jrl.2 + HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Intron|HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron NM_018950 NP_061823 HLA-G 3135 broad.mit.edu 37 6 29798083 29798083 + Intron SNP C T T rs114038308 by1000genomes 2011-2278:2012-1320-T g.chr6:29798083C>T uc003nnw.2 + HLA-G_uc011dmb.1_Intron|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_Intron NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29798642 29798642 + 3'UTR SNP C T T rs115100128 byFrequency;by1000genomes 2011-2278:2012-1320-T g.chr6:29798642C>T uc003nnw.2 + 8 HLA-G_uc011dmb.1_Intron|HLA-G_uc003raj.3_3'UTR|HLA-G_uc003nnz.3_3'UTR|HLA-G_uc010jrn.2_3'UTR|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_RNA NM_002127 NP_002118 HLA-A 3105 broad.mit.edu 37 6 29911356 29911356 + Intron SNP G A A rs112336208 by1000genomes 2011-2278:2012-1320-T g.chr6:29911356G>A uc003nol.2 + HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Intron|HLA-A_uc003nok.2_Intron|HLA-A_uc003non.2_Intron|HLA-A_uc003noo.2_Intron|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_Intron|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_Intron|HLA-A_uc011dmd.1_Intron NM_002116 NP_002107 HLA-B 3106 broad.mit.edu 37 6 31322395 31322395 + Intron SNP A G G rs17199328 byFrequency;by1000genomes 2011-2278:2012-1320-T g.chr6:31322395A>G uc003nth.2 - HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Intron|HLA-B_uc003nti.1_Intron NM_005514 NP_005505 SYNE1 23345 broad.mit.edu 37 6 152683183 152683183 + Intron SNP G T T rs7771657 by1000genomes 2011-2278:2012-1320-T g.chr6:152683183G>T uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kja.1_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152683199 152683199 + Intron SNP G A A rs7771662 by1000genomes 2011-2278:2012-1320-T g.chr6:152683199G>A uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kja.1_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152685861 152685861 + Intron SNP A G G rs9478327 by1000genomes 2011-2278:2012-1320-T g.chr6:152685861A>G uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kja.1_Intron NM_182961 NP_892006 PDE1C 5137 broad.mit.edu 37 7 32307188 32307188 + Intron SNP A T T 2011-2278:2012-1320-T g.chr7:32307188A>T uc003tco.1 - NM_005020 NP_005011 EPHA1 2041 broad.mit.edu 37 7 143092437 143092437 + Silent SNP C T T 2011-2278:2012-1320-T g.chr7:143092437C>T uc003wcz.2 - 12 2145 c.2058G>A c.(2056-2058)CTG>CTA p.L686L NM_005232 NP_005223 PKHD1L1 93035 broad.mit.edu 37 8 110477074 110477074 + Silent SNP T C C 2011-2278:2012-1320-T g.chr8:110477074T>C uc003yne.2 + 49 8117 c.8013T>C c.(8011-8013)CAT>CAC p.H2671H NM_177531 NP_803875 NUP214 8021 broad.mit.edu 37 9 134010236 134010236 + Intron SNP T C C rs16922 by1000genomes 2011-2278:2012-1320-T g.chr9:134010236T>C uc004cag.2 + NUP214_uc004cah.2_Intron|NUP214_uc004caf.1_Intron NM_005085 NP_005076 NOTCH1 4851 broad.mit.edu 37 9 139400406 139400406 + Intron SNP C T T rs11145764 by1000genomes 2011-2278:2012-1320-T g.chr9:139400406C>T uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139400904 139400904 + Intron SNP C T T rs4880098 by1000genomes 2011-2278:2012-1320-T g.chr9:139400904C>T uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 HEPH 9843 broad.mit.edu 37 X 65486241 65486241 + Intron SNP T G G 2011-2278:2012-1320-T g.chrX:65486241T>G uc011moz.1 + HEPH_uc004dwn.2_Intron|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Intron NM_138737 NP_620074 MTOR 2475 broad.mit.edu 37 1 11210163 11210163 + Intron SNP G A A 2011-2280:2012-366-T g.chr1:11210163G>A uc001asd.2 - NM_004958 NP_004949 MTOR 2475 broad.mit.edu 37 1 11317011 11317011 + Missense_Mutation SNP A C C 2011-2280:2012-366-T g.chr1:11317011A>C uc001asd.2 - 4 604 c.483T>G c.(481-483)AAT>AAG p.N161K NM_004958 NP_004949 FBXO42 54455 broad.mit.edu 37 1 16583317 16583317 + Intron SNP T C C 2011-2280:2012-366-T g.chr1:16583317T>C uc001ayg.2 - FBXO42_uc001ayf.2_Intron NM_018994 NP_061867 MCOLN2 255231 broad.mit.edu 37 1 85403502 85403502 + Missense_Mutation SNP G A A 2011-2280:2012-366-T g.chr1:85403502G>A uc001dkm.2 - 11 1512 c.1271C>T c.(1270-1272)GCT>GTT p.A424V MCOLN2_uc001dkn.2_RNA NM_153259 NP_694991 RBM15 64783 broad.mit.edu 37 1 110888875 110888875 + Intron SNP T A A 2011-2280:2012-366-T g.chr1:110888875T>A uc001dzl.1 + RBM15_uc001dzm.1_Intron|uc001dzn.1_5'Flank NM_022768 NP_073605 LOC200030 200030 broad.mit.edu 37 1 148343758 148343758 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr1:148343758C>T uc001eqf.2 - 3 364 c.329G>A c.(328-330)AGG>AAG p.R110K LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|NBPF14_uc009wkf.1_RNA|uc001erd.3_Missense_Mutation_p.R110K|uc001erc.3_RNA|uc010paj.1_Intron|uc010pau.1_5'Flank|uc010pav.1_Missense_Mutation_p.R110K|uc010paw.1_Missense_Mutation_p.R35K NM_017940 NP_060410 LOC200030 200030 broad.mit.edu 37 1 148343766 148343766 + Silent SNP G C C 2011-2280:2012-366-T g.chr1:148343766G>C uc001eqf.2 - 3 356 c.321C>G c.(319-321)ACC>ACG p.T107T LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|NBPF14_uc009wkf.1_RNA|uc001erd.3_Silent_p.T107T|uc001erc.3_RNA|uc010paj.1_Intron|uc010pau.1_5'Flank|uc010pav.1_Silent_p.T107T|uc010paw.1_Silent_p.T32T NM_017940 NP_060410 FLG 2312 broad.mit.edu 37 1 152286488 152286488 + Missense_Mutation SNP G A A 2011-2280:2012-366-T g.chr1:152286488G>A uc001ezu.1 - 3 910 c.874C>T c.(874-876)CGT>TGT p.R292C uc001ezv.2_RNA NM_002016 NP_002007 C1orf125 126859 broad.mit.edu 37 1 179335807 179335807 + Intron SNP A G G 2011-2280:2012-366-T g.chr1:179335807A>G uc001gmo.2 + C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmn.1_Intron|C1orf125_uc010pnl.1_Intron|C1orf125_uc001gmp.2_Intron NM_144696 NP_653297 USH2A 7399 broad.mit.edu 37 1 215914780 215914780 + Missense_Mutation SNP A G G 2011-2280:2012-366-T g.chr1:215914780A>G uc001hku.1 - 60 12035 c.11648T>C c.(11647-11649)ATA>ACA p.I3883T NM_206933 NP_996816 USH2A 7399 broad.mit.edu 37 1 216019173 216019173 + Silent SNP G A A 2011-2280:2012-366-T g.chr1:216019173G>A uc001hku.1 - 45 9435 c.9048C>T c.(9046-9048)TGC>TGT p.C3016C NM_206933 NP_996816 SMYD3 64754 broad.mit.edu 37 1 246140038 246140038 + Intron SNP C T T 2011-2280:2012-366-T g.chr1:246140038C>T uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 ADARB2 105 broad.mit.edu 37 10 1613829 1613829 + Intron SNP G A A 2011-2280:2012-366-T g.chr10:1613829G>A uc009xhq.2 - NM_018702 NP_061172 CUBN 8029 broad.mit.edu 37 10 16918813 16918813 + Intron SNP C T T 2011-2280:2012-366-T g.chr10:16918813C>T uc001ioo.2 - CUBN_uc009xjq.1_Intron|CUBN_uc009xjr.1_Intron NM_001081 NP_001072 RET 5979 broad.mit.edu 37 10 43608350 43608350 + Silent SNP C T T 2011-2280:2012-366-T g.chr10:43608350C>T uc001jal.2 + 9 1888 c.1698C>T c.(1696-1698)CCC>CCT p.P566P RET_uc001jak.1_Silent_p.P566P|RET_uc010qez.1_Silent_p.P312P NM_020975 NP_066124 DUSP5 1847 broad.mit.edu 37 10 112266870 112266870 + Missense_Mutation SNP G A A 2011-2280:2012-366-T g.chr10:112266870G>A uc001kzd.2 + 3 961 c.706G>A c.(706-708)GCT>ACT p.A236T NM_004419 NP_004410 INPP5A 3632 broad.mit.edu 37 10 134537223 134537223 + Intron SNP G C C 2011-2280:2012-366-T g.chr10:134537223G>C uc001llp.2 + INPP5A_uc001llo.1_Intron|INPP5A_uc001llq.2_Intron NM_005539 NP_005530 TOLLIP 54472 broad.mit.edu 37 11 1317863 1317863 + Intron SNP C T T 2011-2280:2012-366-T g.chr11:1317863C>T uc001lte.2 - TOLLIP_uc001ltd.2_Intron|TOLLIP_uc009ycu.2_Intron|TOLLIP_uc001ltf.2_Intron NM_019009 NP_061882 KRAS 3845 broad.mit.edu 37 12 25368285 25368285 + Intron SNP T G G 2011-2280:2012-366-T g.chr12:25368285T>G uc001rgp.1 - KRAS_uc001rgq.1_Intron NM_033360 NP_203524 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C T T rs121913529 2011-2280:2012-366-T g.chr12:25398284C>T uc001rgp.1 - 2 216 c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 ABCD2 225 broad.mit.edu 37 12 39967532 39967532 + Missense_Mutation SNP G C C 2011-2280:2012-366-T g.chr12:39967532G>C uc001rmb.2 - 9 2415 c.1989C>G c.(1987-1989)CAC>CAG p.H663Q NM_005164 NP_005155 MLL2 8085 broad.mit.edu 37 12 49415846 49415846 + Nonsense_Mutation SNP G A A 2011-2280:2012-366-T g.chr12:49415846G>A uc001rta.3 - 53 16501 c.16501C>T c.(16501-16503)CGA>TGA p.R5501* NM_003482 NP_003473 NAV3 89795 broad.mit.edu 37 12 78224947 78224947 + 5'Flank SNP G C C 2011-2280:2012-366-T g.chr12:78224947G>C uc001syp.2 + NAV3_uc001syo.2_5'Flank NM_014903 NP_055718 ANO4 121601 broad.mit.edu 37 12 101295493 101295493 + 5'UTR SNP G A A 2011-2280:2012-366-T g.chr12:101295493G>A uc010svm.1 + 2 ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_5'UTR|ANO4_uc001thx.2_5'UTR NM_178826 NP_849148 ASCL4 121549 broad.mit.edu 37 12 108168290 108168290 + 5'UTR SNP C T T 2011-2280:2012-366-T g.chr12:108168290C>T uc001tmr.2 + 1 NM_203436 NP_982260 ACACB 32 broad.mit.edu 37 12 109690884 109690884 + Missense_Mutation SNP A G G 2011-2280:2012-366-T g.chr12:109690884A>G uc001tob.2 + 43 6085 c.5966A>G c.(5965-5967)AAT>AGT p.N1989S ACACB_uc001toc.2_Missense_Mutation_p.N1989S|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.N655S NM_001093 NP_001084 MYO1H 283446 broad.mit.edu 37 12 109880975 109880975 + Intron SNP A G G 2011-2280:2012-366-T g.chr12:109880975A>G uc010sxo.1 + MYO1H_uc010sxn.1_Intron TMEM132D 121256 broad.mit.edu 37 12 129558548 129558548 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr12:129558548C>T uc009zyl.1 - 9 3500 c.3172G>A c.(3172-3174)GAG>AAG p.E1058K TMEM132D_uc001uia.2_Missense_Mutation_p.E596K NM_133448 NP_597705 RIMBP2 23504 broad.mit.edu 37 12 130890799 130890799 + Intron SNP G A A 2011-2280:2012-366-T g.chr12:130890799G>A uc001uil.2 - NM_015347 NP_056162 RIMBP2 23504 broad.mit.edu 37 12 131111095 131111095 + Intron SNP A G G 2011-2280:2012-366-T g.chr12:131111095A>G uc001uim.2 - BRCA2 675 broad.mit.edu 37 13 32937476 32937476 + Missense_Mutation SNP A G G 2011-2280:2012-366-T g.chr13:32937476A>G uc001uub.1 + 18 8364 c.8137A>G c.(8137-8139)ACC>GCC p.T2713A NM_000059 NP_000050 RB1 5925 broad.mit.edu 37 13 49050706 49050706 + Intron SNP T C C 2011-2280:2012-366-T g.chr13:49050706T>C uc001vcb.2 + NM_000321 NP_000312 PCDH17 27253 broad.mit.edu 37 13 58205647 58205647 + 5'Flank SNP G T T 2011-2280:2012-366-T g.chr13:58205647G>T uc001vhq.1 + PCDH17_uc010aec.1_5'Flank NM_001040429 NP_001035519 PCDH17 27253 broad.mit.edu 37 13 58208013 58208013 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr13:58208013C>T uc001vhq.1 + 1 2225 c.1333C>T c.(1333-1335)CGG>TGG p.R445W PCDH17_uc010aec.1_Missense_Mutation_p.R445W NM_001040429 NP_001035519 GPC5 2262 broad.mit.edu 37 13 92346115 92346115 + Nonsense_Mutation SNP G T T 2011-2280:2012-366-T g.chr13:92346115G>T uc010tif.1 + 3 1366 c.1000G>T c.(1000-1002)GGA>TGA p.G334* NM_004466 NP_004457 TPP2 7174 broad.mit.edu 37 13 103266487 103266487 + Missense_Mutation SNP C A A 2011-2280:2012-366-T g.chr13:103266487C>A uc001vpi.3 + 3 434 c.331C>A c.(331-333)CAT>AAT p.H111N NM_003291 NP_003282 MCF2L 23263 broad.mit.edu 37 13 113717822 113717822 + Intron SNP C T T 2011-2280:2012-366-T g.chr13:113717822C>T uc001vsu.2 + MCF2L_uc001vsq.2_Intron|MCF2L_uc010tjr.1_Intron|MCF2L_uc001vsr.2_Intron|MCF2L_uc001vss.3_Intron|MCF2L_uc010tjs.1_Intron|MCF2L_uc001vst.1_Intron NM_001112732 NP_001106203 FAM179B 23116 broad.mit.edu 37 14 45432459 45432459 + Missense_Mutation SNP G A A 2011-2280:2012-366-T g.chr14:45432459G>A uc001wvv.2 + 1 1044 c.835G>A c.(835-837)GCA>ACA p.A279T FAM179B_uc001wvw.2_Missense_Mutation_p.A279T|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.A279T|FAM179B_uc001wvu.2_Missense_Mutation_p.A279T NM_015091 NP_055906 SYNE2 23224 broad.mit.edu 37 14 64519608 64519608 + Missense_Mutation SNP T C C 2011-2280:2012-366-T g.chr14:64519608T>C uc001xgm.2 + 48 9207 c.8977T>C c.(8977-8979)TGT>CGT p.C2993R SYNE2_uc001xgl.2_Missense_Mutation_p.C2993R NM_015180 NP_055995 NRXN3 9369 broad.mit.edu 37 14 79746605 79746605 + Intron SNP G A A 2011-2280:2012-366-T g.chr14:79746605G>A uc001xun.2 + NRXN3_uc001xum.1_Intron|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_5'UTR|NRXN3_uc010asw.2_5'UTR|NRXN3_uc001xur.3_5'UTR NM_004796 NP_004787 INO80 54617 broad.mit.edu 37 15 41377610 41377610 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr15:41377610C>T uc001zni.2 - 7 1043 c.830G>A c.(829-831)CGC>CAC p.R277H INO80_uc010ucu.1_RNA NM_017553 NP_060023 B2M 567 broad.mit.edu 37 15 45003618 45003618 + 5'Flank SNP G A A 2011-2280:2012-366-T g.chr15:45003618G>A uc001zuc.2 + B2M_uc010uek.1_5'Flank|B2M_uc010bdx.1_5'Flank NM_004048 NP_004039 TLN2 83660 broad.mit.edu 37 15 63125614 63125614 + Intron SNP G A A 2011-2280:2012-366-T g.chr15:63125614G>A uc002alb.3 + TLN2_uc002alc.3_Intron|TLN2_uc010uic.1_Intron|uc002ale.1_RNA NM_015059 NP_055874 AGBL1 123624 broad.mit.edu 37 15 87360771 87360771 + Intron SNP C G G 2011-2280:2012-366-T g.chr15:87360771C>G uc002blz.1 + NM_152336 NP_689549 BLM 641 broad.mit.edu 37 15 91347646 91347646 + Intron SNP C T T 2011-2280:2012-366-T g.chr15:91347646C>T uc002bpr.2 + BLM_uc010uqh.1_Intron|BLM_uc010uqi.1_Intron|BLM_uc010bnx.2_Intron|BLM_uc002bpt.2_Intron NM_000057 NP_000048 MSLNL 401827 broad.mit.edu 37 16 830485 830485 + Silent SNP C T T 2011-2280:2012-366-T g.chr16:830485C>T uc002cjz.1 - 3 516 c.516G>A c.(514-516)ACG>ACA p.T172T NM_001025190 NP_001020361 TSC2 7249 broad.mit.edu 37 16 2105377 2105377 + Intron SNP G A A 2011-2280:2012-366-T g.chr16:2105377G>A uc002con.2 + TSC2_uc010bsd.2_Intron|TSC2_uc002coo.2_Intron|TSC2_uc010uvv.1_Intron|TSC2_uc010uvw.1_Intron|TSC2_uc002cop.2_Intron NM_000548 NP_000539 CREBBP 1387 broad.mit.edu 37 16 3786188 3786188 + Missense_Mutation SNP G A A 2011-2280:2012-366-T g.chr16:3786188G>A uc002cvv.2 - 28 4781 c.4577C>T c.(4576-4578)GCA>GTA p.A1526V CREBBP_uc002cvw.2_Missense_Mutation_p.A1488V NM_004380 NP_004371 DNAH3 55567 broad.mit.edu 37 16 21133312 21133312 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr16:21133312C>T uc010vbe.1 - 10 1538 c.1538G>A c.(1537-1539)CGT>CAT p.R513H DNAH3_uc002die.2_Missense_Mutation_p.R484H NM_017539 NP_060009 CYLD 1540 broad.mit.edu 37 16 50827633 50827633 + Intron SNP T A A 2011-2280:2012-366-T g.chr16:50827633T>A uc002egp.1 + CYLD_uc010cbs.1_Intron|CYLD_uc002egq.1_Intron|CYLD_uc002egr.1_Intron NM_015247 NP_056062 KLHDC4 54758 broad.mit.edu 37 16 87772847 87772847 + Intron SNP C T T 2011-2280:2012-366-T g.chr16:87772847C>T uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 TP53 7157 broad.mit.edu 37 17 7576985 7576985 + Intron SNP G A A 2011-2280:2012-366-T g.chr17:7576985G>A uc002gim.2 - TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Intron|TP53_uc010cng.1_Intron|TP53_uc002gii.1_Intron|TP53_uc010cnh.1_Intron|TP53_uc010cni.1_Intron|TP53_uc002gij.2_Intron NM_001126112 NP_001119584 TP53 7157 broad.mit.edu 37 17 7580731 7580731 + Intron SNP G A A 2011-2280:2012-366-T g.chr17:7580731G>A uc002gim.2 - TP53_uc002gig.1_5'Flank|TP53_uc002gih.2_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Intron|TP53_uc010cni.1_Intron|TP53_uc002gij.2_Intron|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Intron|TP53_uc010cnk.1_5'UTR NM_001126112 NP_001119584 MYH8 4626 broad.mit.edu 37 17 10293792 10293792 + Silent SNP G A A 2011-2280:2012-366-T g.chr17:10293792G>A uc002gmm.2 - 40 5888 c.5793C>T c.(5791-5793)CAC>CAT p.H1931H uc002gml.1_Intron NM_002472 NP_002463 MYH8 4626 broad.mit.edu 37 17 10312617 10312617 + Missense_Mutation SNP T C C 2011-2280:2012-366-T g.chr17:10312617T>C uc002gmm.2 - 16 1971 c.1876A>G c.(1876-1878)ACG>GCG p.T626A uc002gml.1_Intron NM_002472 NP_002463 MYH1 4619 broad.mit.edu 37 17 10419621 10419621 + Missense_Mutation SNP G T T 2011-2280:2012-366-T g.chr17:10419621G>T uc002gmo.2 - 4 337 c.243C>A c.(241-243)AAC>AAA p.N81K uc002gml.1_Intron NM_005963 NP_005954 NF1 4763 broad.mit.edu 37 17 29533276 29533276 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr17:29533276C>T uc002hgg.2 + 12 1612 c.1279C>T c.(1279-1281)CCT>TCT p.P427S NF1_uc002hge.1_Missense_Mutation_p.P427S|NF1_uc002hgf.1_Missense_Mutation_p.P427S|NF1_uc002hgh.2_Missense_Mutation_p.P427S|NF1_uc010csn.1_Missense_Mutation_p.P287S NM_001042492 NP_001035957 STAT3 6774 broad.mit.edu 37 17 40483600 40483600 + Intron SNP A C C 2011-2280:2012-366-T g.chr17:40483600A>C uc002hzl.1 - STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron NM_139276 NP_644805 PRKCA 5578 broad.mit.edu 37 17 64770154 64770154 + Missense_Mutation SNP G A A 2011-2280:2012-366-T g.chr17:64770154G>A uc002jfp.1 + 14 1618 c.1574G>A c.(1573-1575)GGC>GAC p.G525D PRKCA_uc002jfo.1_Missense_Mutation_p.G396D NM_002737 NP_002728 RPTOR 57521 broad.mit.edu 37 17 78717636 78717636 + Intron SNP C G G rs139992677 by1000genomes 2011-2280:2012-366-T g.chr17:78717636C>G uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 LAMA1 284217 broad.mit.edu 37 18 6992725 6992725 + Intron SNP G C C 2011-2280:2012-366-T g.chr18:6992725G>C uc002knm.2 - LAMA1_uc010wzj.1_Intron NM_005559 NP_005550 ZNF521 25925 broad.mit.edu 37 18 22805035 22805035 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr18:22805035C>T uc002kvk.2 - 4 3094 c.2847G>A c.(2845-2847)ATG>ATA p.M949I ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.M949I|ZNF521_uc002kvl.2_Missense_Mutation_p.M729I NM_015461 NP_056276 ZNF521 25925 broad.mit.edu 37 18 22807044 22807044 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr18:22807044C>T uc002kvk.2 - 4 1085 c.838G>A c.(838-840)GCC>ACC p.A280T ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.A280T|ZNF521_uc002kvl.2_Missense_Mutation_p.A60T NM_015461 NP_056276 PIK3C3 5289 broad.mit.edu 37 18 39534983 39534983 + 5'Flank SNP G A A 2011-2280:2012-366-T g.chr18:39534983G>A uc002lap.2 + PIK3C3_uc010xcl.1_5'Flank|PIK3C3_uc002lao.2_5'Flank NM_002647 NP_002638 KIAA1468 57614 broad.mit.edu 37 18 59925737 59925737 + Intron SNP A G G 2011-2280:2012-366-T g.chr18:59925737A>G uc002lil.2 + KIAA1468_uc002lik.1_Intron|KIAA1468_uc010xel.1_Intron|KIAA1468_uc002lim.2_Intron NM_020854 NP_065905 PHLPP1 23239 broad.mit.edu 37 18 60446891 60446891 + Intron SNP A C C 2011-2280:2012-366-T g.chr18:60446891A>C uc002lis.2 + NM_194449 NP_919431 ZNF426 79088 broad.mit.edu 37 19 9639816 9639816 + Missense_Mutation SNP T G G 2011-2280:2012-366-T g.chr19:9639816T>G uc002mlq.2 - 8 1169 c.905A>C c.(904-906)CAC>CCC p.H302P ZNF426_uc010dws.2_Missense_Mutation_p.H264P NM_024106 NP_077011 ZNF461 92283 broad.mit.edu 37 19 37130270 37130270 + Missense_Mutation SNP T C C 2011-2280:2012-366-T g.chr19:37130270T>C uc002oem.2 - 6 1205 c.977A>G c.(976-978)GAA>GGA p.E326G ZNF461_uc002oen.2_Missense_Mutation_p.E295G|ZNF461_uc010xtj.1_Missense_Mutation_p.E303G NM_153257 NP_694989 SPTBN4 57731 broad.mit.edu 37 19 41062993 41062993 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr19:41062993C>T uc002ony.2 + 26 5440 c.5354C>T c.(5353-5355)GCA>GTA p.A1785V SPTBN4_uc002onx.2_Missense_Mutation_p.A1785V|SPTBN4_uc002onz.2_Missense_Mutation_p.A1785V|SPTBN4_uc010egx.2_Missense_Mutation_p.A528V|SPTBN4_uc002ooa.2_Missense_Mutation_p.A461V NM_020971 NP_066022 TPRX1 284355 broad.mit.edu 37 19 48305390 48305390 + Missense_Mutation SNP A T T 2011-2280:2012-366-T g.chr19:48305390A>T uc002php.1 - 2 949 c.878T>A c.(877-879)ATG>AAG p.M293K NM_198479 NP_940881 ZNF610 162963 broad.mit.edu 37 19 52869183 52869183 + Silent SNP T C C 2011-2280:2012-366-T g.chr19:52869183T>C uc002pyx.3 + 6 958 c.552T>C c.(550-552)ATT>ATC p.I184I ZNF610_uc002pyy.3_Silent_p.I184I|ZNF610_uc002pyz.3_Silent_p.I141I|ZNF610_uc002pza.2_Silent_p.I184I NM_001161426 NP_001154898 ZNF665 79788 broad.mit.edu 37 19 53668667 53668667 + Missense_Mutation SNP G A A 2011-2280:2012-366-T g.chr19:53668667G>A uc010eqm.1 - 4 1176 c.1076C>T c.(1075-1077)TCA>TTA p.S359L NM_024733 NP_079009 NLRP12 91662 broad.mit.edu 37 19 54311065 54311065 + Intron SNP C T T 2011-2280:2012-366-T g.chr19:54311065C>T uc002qch.3 - NLRP12_uc010eqw.2_5'UTR|NLRP12_uc002qci.3_Intron|NLRP12_uc002qcj.3_Intron|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron NM_144687 NP_653288 LILRA5 353514 broad.mit.edu 37 19 54818784 54818784 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr19:54818784C>T uc002qfe.2 - 7 934 c.814G>A c.(814-816)GCC>ACC p.A272T LILRA5_uc002qff.2_Missense_Mutation_p.A260T NM_021250 NP_067073 PEG3 5178 broad.mit.edu 37 19 57327928 57327928 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr19:57327928C>T uc002qnu.2 - 7 2233 c.1882G>A c.(1882-1884)GAA>AAA p.E628K ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E599K|PEG3_uc002qnv.2_Missense_Mutation_p.E628K|PEG3_uc002qnw.2_Missense_Mutation_p.E504K|PEG3_uc002qnx.2_Missense_Mutation_p.E502K|PEG3_uc010etr.2_Missense_Mutation_p.E628K NM_001146186 NP_001139658 REL 5966 broad.mit.edu 37 2 61143994 61143994 + Intron SNP T A A 2011-2280:2012-366-T g.chr2:61143994T>A uc002sam.1 + REL_uc002san.1_Intron NM_002908 NP_002899 RMND5A 64795 broad.mit.edu 37 2 87017420 87017420 + Intron SNP G A A 2011-2280:2012-366-T g.chr2:87017420G>A uc002srs.3 + CD8A_uc002srv.2_Intron|CD8A_uc010ytn.1_Intron|CD8A_uc002srt.2_Intron|CD8A_uc002sru.2_Intron INPP4A 3631 broad.mit.edu 37 2 99154426 99154426 + Missense_Mutation SNP G A A 2011-2280:2012-366-T g.chr2:99154426G>A uc002syy.2 + 8 961 c.568G>A c.(568-570)GTC>ATC p.V190I INPP4A_uc010yvj.1_Missense_Mutation_p.V190I|INPP4A_uc010yvk.1_Missense_Mutation_p.V190I|INPP4A_uc002syx.2_Missense_Mutation_p.V190I|INPP4A_uc010fik.2_Intron NM_001134224 NP_001127696 LRP1B 53353 broad.mit.edu 37 2 141598727 141598727 + Intron SNP A G G 2011-2280:2012-366-T g.chr2:141598727A>G uc002tvj.1 - NM_018557 NP_061027 PKP4 8502 broad.mit.edu 37 2 159530522 159530522 + Intron SNP A G G 2011-2280:2012-366-T g.chr2:159530522A>G uc002tzv.2 + PKP4_uc002tzw.2_Intron|PKP4_uc002tzx.2_Intron|PKP4_uc002uaa.2_Intron|uc002uab.1_Intron|PKP4_uc002uac.2_Intron|PKP4_uc002uad.2_Intron|PKP4_uc002uae.1_Intron NM_003628 NP_003619 TTN 7273 broad.mit.edu 37 2 179473282 179473282 + Intron SNP T C C 2011-2280:2012-366-T g.chr2:179473282T>C uc010zfg.1 - uc002ump.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron NM_133378 NP_596869 CASP8 841 broad.mit.edu 37 2 202122983 202122983 + Intron SNP T C C 2011-2280:2012-366-T g.chr2:202122983T>C uc002uxr.1 + CASP8_uc010ftc.1_Intron|CASP8_uc002uxo.1_Intron|CASP8_uc002uxp.1_Intron|CASP8_uc002uxq.1_Intron|CASP8_uc002uxs.1_5'UTR|CASP8_uc002uxt.1_Missense_Mutation_p.V10A|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Intron|CASP8_uc002uxw.1_5'Flank NM_033355 NP_203519 INPP5D 3635 broad.mit.edu 37 2 234072440 234072440 + Missense_Mutation SNP C A A 2011-2280:2012-366-T g.chr2:234072440C>A uc010zmo.1 + 11 1481 c.1328C>A c.(1327-1329)CCC>CAC p.P443H INPP5D_uc010zmp.1_Missense_Mutation_p.P442H NM_001017915 NP_001017915 INPP5D 3635 broad.mit.edu 37 2 234073070 234073070 + Missense_Mutation SNP G T T 2011-2280:2012-366-T g.chr2:234073070G>T uc010zmo.1 + 12 1708 c.1555G>T c.(1555-1557)GGG>TGG p.G519W INPP5D_uc010zmp.1_Missense_Mutation_p.G518W NM_001017915 NP_001017915 COL6A3 1293 broad.mit.edu 37 2 238234210 238234210 + Silent SNP G A A 2011-2280:2012-366-T g.chr2:238234210G>A uc002vwl.2 - 43 9771 c.9486C>T c.(9484-9486)TGC>TGT p.C3162C COL6A3_uc002vwo.2_Silent_p.C2956C|COL6A3_uc010znj.1_Silent_p.C2555C|COL6A3_uc002vwj.2_Silent_p.C543C NM_004369 NP_004360 COL6A3 1293 broad.mit.edu 37 2 238267692 238267692 + Missense_Mutation SNP T C C 2011-2280:2012-366-T g.chr2:238267692T>C uc002vwl.2 - 20 6679 c.6394A>G c.(6394-6396)AAT>GAT p.N2132D COL6A3_uc002vwo.2_Missense_Mutation_p.N1926D|COL6A3_uc010znj.1_Missense_Mutation_p.N1525D NM_004369 NP_004360 ESPNL 339768 broad.mit.edu 37 2 239027843 239027843 + Intron SNP A C C 2011-2280:2012-366-T g.chr2:239027843A>C uc002vxq.3 + ESPNL_uc010fyw.2_Intron NM_194312 NP_919288 PAK7 57144 broad.mit.edu 37 20 9546883 9546883 + Missense_Mutation SNP G T T 2011-2280:2012-366-T g.chr20:9546883G>T uc002wnl.2 - 6 1684 c.1139C>A c.(1138-1140)GCC>GAC p.A380D PAK7_uc002wnk.2_Missense_Mutation_p.A380D|PAK7_uc002wnj.2_Missense_Mutation_p.A380D|PAK7_uc010gby.1_Missense_Mutation_p.A380D NM_020341 NP_065074 ASXL1 171023 broad.mit.edu 37 20 31024332 31024332 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr20:31024332C>T uc002wxs.2 + 12 4243 c.3817C>T c.(3817-3819)CGT>TGT p.R1273C ASXL1_uc010geb.2_Missense_Mutation_p.R1164C NM_015338 NP_056153 BAGE2 85319 broad.mit.edu 37 21 11040737 11040737 + Intron SNP G A A 2011-2280:2012-366-T g.chr21:11040737G>A uc002yit.1 - TPTE_uc002yis.1_5'Flank NM_182482 NP_872288 RUNX1 861 broad.mit.edu 37 21 36171640 36171640 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr21:36171640C>T uc002yuh.2 - 5 2422 c.844G>A c.(844-846)GGC>AGC p.G282S RUNX1_uc002yui.2_Missense_Mutation_p.G218S|RUNX1_uc010gmu.2_Missense_Mutation_p.G309S|RUNX1_uc010gmv.2_Missense_Mutation_p.G309S|RUNX1_uc002yuj.3_Missense_Mutation_p.G177S|RUNX1_uc002yuk.3_Missense_Mutation_p.G309S|RUNX1_uc002yul.1_Missense_Mutation_p.G74S|RUNX1_uc002yum.1_Missense_Mutation_p.G113S NM_001001890 NP_001001890 MYH9 4627 broad.mit.edu 37 22 36696985 36696985 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr22:36696985C>T uc003apg.2 - 22 2981 c.2750G>A c.(2749-2751)TGC>TAC p.C917Y MYH9_uc003aph.1_Missense_Mutation_p.C781Y NM_002473 NP_002464 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45197080 45197080 + Intron SNP A G G 2011-2280:2012-366-T g.chr22:45197080A>G uc003bfd.2 + PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|ARHGAP8_uc003bfi.2_Intron|ARHGAP8_uc010gzv.2_Intron|ARHGAP8_uc003bfj.2_Intron|ARHGAP8_uc003bfk.2_Intron|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron NM_181335 NP_851852 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45197112 45197112 + Intron SNP A G G rs138603125 by1000genomes 2011-2280:2012-366-T g.chr22:45197112A>G uc003bfd.2 + PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|ARHGAP8_uc003bfi.2_Intron|ARHGAP8_uc010gzv.2_Intron|ARHGAP8_uc003bfj.2_Intron|ARHGAP8_uc003bfk.2_Intron|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron NM_181335 NP_851852 SHANK3 85358 broad.mit.edu 37 22 51124365 51124365 + Intron SNP G A A 2011-2280:2012-366-T g.chr22:51124365G>A uc003bne.1 + NM_001080420 NP_001073889 CNTN6 27255 broad.mit.edu 37 3 1427439 1427439 + Missense_Mutation SNP G T T 2011-2280:2012-366-T g.chr3:1427439G>T uc003boz.2 + 20 2929 c.2662G>T c.(2662-2664)GGG>TGG p.G888W CNTN6_uc011asj.1_Missense_Mutation_p.G816W|CNTN6_uc003bpa.2_Missense_Mutation_p.G888W NM_014461 NP_055276 BBX 56987 broad.mit.edu 37 3 107491568 107491568 + Nonsense_Mutation SNP G T T 2011-2280:2012-366-T g.chr3:107491568G>T uc010hpr.2 + 11 1327 c.1000G>T c.(1000-1002)GGA>TGA p.G334* BBX_uc003dwk.3_Nonsense_Mutation_p.G334*|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Nonsense_Mutation_p.G355*|BBX_uc003dwm.3_Nonsense_Mutation_p.G334*|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 BBX 56987 broad.mit.edu 37 3 107524267 107524267 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr3:107524267C>T uc010hpr.2 + 18 3116 c.2789C>T c.(2788-2790)CCG>CTG p.P930L BBX_uc003dwk.3_Missense_Mutation_p.P900L|BBX_uc003dwl.3_Missense_Mutation_p.R594C|BBX_uc003dwm.3_Missense_Mutation_p.P900L|BBX_uc003dwo.3_Missense_Mutation_p.R247C NM_001142568 NP_001136040 DPPA4 55211 broad.mit.edu 37 3 109056425 109056425 + 5'Flank SNP C T T 2011-2280:2012-366-T g.chr3:109056425C>T uc003dxq.3 - DPPA4_uc011bho.1_5'Flank|DPPA4_uc011bhp.1_5'Flank NM_018189 NP_060659 POLQ 10721 broad.mit.edu 37 3 121187276 121187276 + Nonsense_Mutation SNP G A A 2011-2280:2012-366-T g.chr3:121187276G>A uc003eee.3 - 23 6850 c.6721C>T c.(6721-6723)CGA>TGA p.R2241* POLQ_uc003eed.2_Nonsense_Mutation_p.R1413* NM_199420 NP_955452 CHCHD6 84303 broad.mit.edu 37 3 126582409 126582409 + Intron SNP A G G 2011-2280:2012-366-T g.chr3:126582409A>G uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 CLSTN2 64084 broad.mit.edu 37 3 140281828 140281828 + Intron SNP C T T 2011-2280:2012-366-T g.chr3:140281828C>T uc003etn.2 + NM_022131 NP_071414 SI 6476 broad.mit.edu 37 3 164755752 164755752 + Nonsense_Mutation SNP C A A 2011-2280:2012-366-T g.chr3:164755752C>A uc003fei.2 - 21 2424 c.2362G>T c.(2362-2364)GGA>TGA p.G788* NM_001041 NP_001032 MECOM 2122 broad.mit.edu 37 3 168861480 168861480 + Intron SNP A G G 2011-2280:2012-366-T g.chr3:168861480A>G uc003ffi.3 - MECOM_uc003ffj.3_Intron|MECOM_uc011bpi.1_Intron|MECOM_uc003ffn.3_Intron|MECOM_uc003ffk.2_Intron|MECOM_uc003ffl.2_Intron|MECOM_uc011bpj.1_Intron|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Intron|MECOM_uc003ffm.1_Intron NM_005241 NP_005232 BCL6 604 broad.mit.edu 37 3 187449591 187449591 + Silent SNP A G G 2011-2280:2012-366-T g.chr3:187449591A>G uc003frp.3 - 4 746 c.289T>C c.(289-291)TTG>CTG p.L97L BCL6_uc011bsf.1_Silent_p.L97L|BCL6_uc010hza.2_5'UTR|BCL6_uc003frq.1_Silent_p.L97L NM_001130845 NP_001124317 TFRC 7037 broad.mit.edu 37 3 195794497 195794497 + Missense_Mutation SNP G T T 2011-2280:2012-366-T g.chr3:195794497G>T uc003fvz.3 - 9 1215 c.932C>A c.(931-933)CCT>CAT p.P311H TFRC_uc003fwa.3_Missense_Mutation_p.P311H|TFRC_uc010hzy.2_Missense_Mutation_p.P230H|TFRC_uc011btr.1_Missense_Mutation_p.P29H NM_003234 NP_003225 TET2 54790 broad.mit.edu 37 4 106159410 106159410 + Intron SNP T C C 2011-2280:2012-366-T g.chr4:106159410T>C uc003hxk.2 + TET2_uc011cez.1_Intron|TET2_uc003hxj.2_Intron|TET2_uc010ilp.1_Intron|TET2_uc003hxi.1_3'UTR NM_001127208 NP_001120680 PHF17 79960 broad.mit.edu 37 4 129736405 129736405 + Intron SNP G A A 2011-2280:2012-366-T g.chr4:129736405G>A uc003igk.2 + PHF17_uc003igj.2_Intron|PHF17_uc003igl.2_Intron|PHF17_uc011cgy.1_Intron|PHF17_uc003igm.2_Intron NM_199320 NP_955352 FBXW7 55294 broad.mit.edu 37 4 153303802 153303802 + Intron SNP G A A 2011-2280:2012-366-T g.chr4:153303802G>A uc003ims.2 - FBXW7_uc011cii.1_Intron|FBXW7_uc003imt.2_Intron|FBXW7_uc003imr.2_5'Flank NM_033632 NP_361014 FAT1 2195 broad.mit.edu 37 4 187532699 187532699 + Missense_Mutation SNP A G G 2011-2280:2012-366-T g.chr4:187532699A>G uc003izf.2 - 14 9882 c.9694T>C c.(9694-9696)TAC>CAC p.Y3232H NM_005245 NP_005236 NKD2 85409 broad.mit.edu 37 5 1036910 1036910 + Intron SNP G A A 2011-2280:2012-366-T g.chr5:1036910G>A uc003jbt.1 + NKD2_uc010itf.1_Intron NM_033120 NP_149111 CDH12 1010 broad.mit.edu 37 5 21751760 21751760 + 3'UTR SNP T A A 2011-2280:2012-366-T g.chr5:21751760T>A uc010iuc.2 - 12 CDH12_uc011cno.1_3'UTR|CDH12_uc003jgk.2_3'UTR|uc003jgj.2_Intron NM_004061 NP_004052 ADAMTS12 81792 broad.mit.edu 37 5 33577281 33577281 + Intron SNP A G G 2011-2280:2012-366-T g.chr5:33577281A>G uc003jia.1 - ADAMTS12_uc010iuq.1_Intron NM_030955 NP_112217 ADAMTS12 81792 broad.mit.edu 37 5 33658289 33658289 + Missense_Mutation SNP C A A 2011-2280:2012-366-T g.chr5:33658289C>A uc003jia.1 - 7 1353 c.1190G>T c.(1189-1191)AGC>ATC p.S397I ADAMTS12_uc010iuq.1_Missense_Mutation_p.S397I NM_030955 NP_112217 RXFP3 51289 broad.mit.edu 37 5 33936873 33936873 + Missense_Mutation SNP G T T 2011-2280:2012-366-T g.chr5:33936873G>T uc003jic.1 + 1 385 c.28G>T c.(28-30)GCC>TCC p.A10S NM_016568 NP_057652 MSH3 4437 broad.mit.edu 37 5 80057336 80057336 + Intron SNP T C C 2011-2280:2012-366-T g.chr5:80057336T>C uc003kgz.2 + NM_002439 NP_002430 RASA1 5921 broad.mit.edu 37 5 86564112 86564112 + 5'Flank SNP G T T 2011-2280:2012-366-T g.chr5:86564112G>T uc003kiw.2 + RASA1_uc010jav.2_5'Flank|RASA1_uc003kix.2_5'Flank|RASA1_uc011ctv.1_5'Flank|RASA1_uc011ctw.1_5'Flank|RASA1_uc010jaw.2_5'Flank|RASA1_uc011ctu.1_5'Flank NM_002890 NP_002881 RASA1 5921 broad.mit.edu 37 5 86648979 86648979 + Missense_Mutation SNP G A A 2011-2280:2012-366-T g.chr5:86648979G>A uc003kiw.2 + 9 1377 c.1259G>A c.(1258-1260)GGG>GAG p.G420E RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.G243E|RASA1_uc011ctv.1_Missense_Mutation_p.G253E|RASA1_uc011ctw.1_Missense_Mutation_p.G254E|RASA1_uc010jaw.2_Missense_Mutation_p.G242E NM_002890 NP_002881 SLCO4C1 353189 broad.mit.edu 37 5 101592916 101592916 + Silent SNP G A A 2011-2280:2012-366-T g.chr5:101592916G>A uc003knm.2 - 8 1659 c.1372C>T c.(1372-1374)CTG>TTG p.L458L NM_180991 NP_851322 PCDHA2 56146 broad.mit.edu 37 5 140174678 140174678 + Silent SNP C A A 2011-2280:2012-366-T g.chr5:140174678C>A uc003lhd.2 + 1 235 c.129C>A c.(127-129)ACC>ACA p.T43T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.T43T|PCDHA2_uc011czy.1_Silent_p.T43T NM_018905 NP_061728 PCDHB11 56125 broad.mit.edu 37 5 140579717 140579717 + Missense_Mutation SNP A G G 2011-2280:2012-366-T g.chr5:140579717A>G uc003liy.2 + 1 370 c.370A>G c.(370-372)AGG>GGG p.R124G PCDHB11_uc011daj.1_Intron NM_018931 NP_061754 FAT2 2196 broad.mit.edu 37 5 150913882 150913882 + Intron SNP G T T 2011-2280:2012-366-T g.chr5:150913882G>T uc003lue.3 - GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_5'Flank NM_001447 NP_001438 EBF1 1879 broad.mit.edu 37 5 158527186 158527186 + 5'Flank SNP A T T 2011-2280:2012-366-T g.chr5:158527186A>T uc010jip.2 - EBF1_uc011ddx.1_5'Flank|EBF1_uc003lxl.3_5'Flank|uc003lxm.1_5'Flank NM_024007 NP_076870 NSD1 64324 broad.mit.edu 37 5 176662948 176662948 + Splice_Site SNP T C C 2011-2280:2012-366-T g.chr5:176662948T>C uc003mfr.3 + 6 4059 c.3921_splice c.e6+2 p.K1307_splice NSD1_uc003mft.3_Splice_Site_p.K1038_splice|NSD1_uc003mfs.1_Splice_Site_p.K1204_splice|NSD1_uc011dfx.1_Splice_Site_p.K955_splice NM_022455 NP_071900 COL23A1 91522 broad.mit.edu 37 5 177721265 177721265 + Intron SNP G A A 2011-2280:2012-366-T g.chr5:177721265G>A uc003mje.2 - NM_173465 NP_775736 E2F3 1871 broad.mit.edu 37 6 20401810 20401810 + 5'Flank SNP G T T 2011-2280:2012-366-T g.chr6:20401810G>T uc003nda.2 + E2F3_uc003ncz.2_5'Flank NM_001949 NP_001940 HLA-E 3133 broad.mit.edu 37 6 30457901 30457901 + Intron SNP G T T 2011-2280:2012-366-T g.chr6:30457901G>T uc003nqg.2 + HLA-E_uc011dmg.1_Intron|HLA-E_uc011dmh.1_Intron NM_005516 NP_005507 HLA-C 3107 broad.mit.edu 37 6 31237066 31237066 + Intron SNP C A A 2011-2280:2012-366-T g.chr6:31237066C>A uc003nsy.2 - HLA-C_uc011dnj.1_Intron|HLA-C_uc003nsx.2_Intron|HLA-C_uc003nsz.2_Intron|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Intron|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron NM_002117 NP_002108 HLA-C 3107 broad.mit.edu 37 6 31239681 31239681 + Intron SNP A T T rs111542254 2011-2280:2012-366-T g.chr6:31239681A>T uc003nsy.2 - HLA-C_uc011dnj.1_5'UTR|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Intron|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Intron|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Intron|HLA-B_uc003ntf.2_Intron NM_002117 NP_002108 PKHD1 5314 broad.mit.edu 37 6 51771053 51771053 + Silent SNP A G G 2011-2280:2012-366-T g.chr6:51771053A>G uc003pah.1 - 41 7044 c.6768T>C c.(6766-6768)AGT>AGC p.S2256S PKHD1_uc010jzn.1_Intron|PKHD1_uc003pai.2_Silent_p.S2256S NM_138694 NP_619639 PKHD1 5314 broad.mit.edu 37 6 51897792 51897792 + Intron SNP A G G 2011-2280:2012-366-T g.chr6:51897792A>G uc003pah.1 - PKHD1_uc003pai.2_Intron NM_138694 NP_619639 PHIP 55023 broad.mit.edu 37 6 79727137 79727137 + Intron SNP C T T 2011-2280:2012-366-T g.chr6:79727137C>T uc003pir.2 - PHIP_uc011dyp.1_Intron NM_017934 NP_060404 EPHA7 2045 broad.mit.edu 37 6 94129667 94129667 + 5'Flank SNP T C C 2011-2280:2012-366-T g.chr6:94129667T>C uc003poe.2 - EPHA7_uc003pof.2_5'Flank|EPHA7_uc011eac.1_5'Flank|EPHA7_uc003pog.3_5'Flank NM_004440 NP_004431 COQ3 51805 broad.mit.edu 37 6 99842420 99842420 + 5'Flank SNP C T T 2011-2280:2012-366-T g.chr6:99842420C>T uc003ppk.2 - NM_017421 NP_059117 SYNE1 23345 broad.mit.edu 37 6 152542097 152542097 + Silent SNP G A A 2011-2280:2012-366-T g.chr6:152542097G>A uc010kiw.2 - 119 22343 c.21741C>T c.(21739-21741)TAC>TAT p.Y7247Y SYNE1_uc010kiv.2_Silent_p.Y1771Y|SYNE1_uc003qos.3_Silent_p.Y1771Y|SYNE1_uc003qot.3_Silent_p.Y7176Y|SYNE1_uc003qou.3_Silent_p.Y7247Y|SYNE1_uc003qor.3_Silent_p.Y147Y NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152694159 152694159 + Intron SNP T C C 2011-2280:2012-366-T g.chr6:152694159T>C uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kja.1_Intron|SYNE1_uc003qov.2_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152725251 152725251 + Intron SNP T C C rs6919643 2011-2280:2012-366-T g.chr6:152725251T>C uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152730398 152730398 + Intron SNP A G G 2011-2280:2012-366-T g.chr6:152730398A>G uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron NM_182961 NP_892006 MAD1L1 8379 broad.mit.edu 37 7 2097634 2097634 + Intron SNP C T T 2011-2280:2012-366-T g.chr7:2097634C>T uc003slh.1 - MAD1L1_uc003sle.1_Intron|MAD1L1_uc003slf.1_Intron|MAD1L1_uc003slg.1_Intron|MAD1L1_uc010ksh.1_Intron|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Intron|MAD1L1_uc010ksj.2_Intron NM_001013836 NP_001013858 HNRNPA2B1 3181 broad.mit.edu 37 7 26236350 26236350 + Intron SNP A G G 2011-2280:2012-366-T g.chr7:26236350A>G uc003sxr.3 - HNRNPA2B1_uc003sxs.3_Intron NM_031243 NP_112533 EPHB4 2050 broad.mit.edu 37 7 100417290 100417290 + Silent SNP G A A 2011-2280:2012-366-T g.chr7:100417290G>A uc003uwn.1 - 6 1677 c.1186C>T c.(1186-1188)CTA>TTA p.L396L EPHB4_uc003uwm.1_Silent_p.L303L|EPHB4_uc010lhj.1_Silent_p.L396L|EPHB4_uc011kkf.1_Silent_p.L396L|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Silent_p.L396L NM_004444 NP_004435 SLC26A3 1811 broad.mit.edu 37 7 107427428 107427428 + Intron SNP T G G 2011-2280:2012-366-T g.chr7:107427428T>G uc003ver.2 - SLC26A3_uc003ves.2_Intron NM_000111 NP_000102 LAMB1 3912 broad.mit.edu 37 7 107575960 107575960 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr7:107575960C>T uc003vew.2 - 27 4423 c.4088G>A c.(4087-4089)CGA>CAA p.R1363Q LAMB1_uc003vev.2_Missense_Mutation_p.R1387Q NM_002291 NP_002282 GRM8 2918 broad.mit.edu 37 7 126409903 126409903 + Intron SNP A G G 2011-2280:2012-366-T g.chr7:126409903A>G uc003vlr.2 - GRM8_uc003vls.2_Intron|GRM8_uc011kof.1_Intron|GRM8_uc003vlt.2_Intron|GRM8_uc010lkz.1_Intron|GRM8_uc003vlu.1_Intron NM_000845 NP_000836 GRM8 2918 broad.mit.edu 37 7 126883790 126883790 + 5'Flank SNP G A A 2011-2280:2012-366-T g.chr7:126883790G>A uc003vlr.2 - GRM8_uc003vls.2_5'Flank|GRM8_uc011kof.1_5'Flank|GRM8_uc003vlt.2_Intron|GRM8_uc010lkz.1_Intron NM_000845 NP_000836 MLL3 58508 broad.mit.edu 37 7 151859529 151859529 + Silent SNP G A A 2011-2280:2012-366-T g.chr7:151859529G>A uc003wla.2 - 43 11352 c.11133C>T c.(11131-11133)ACC>ACT p.T3711T MLL3_uc003wkz.2_Silent_p.T2772T|MLL3_uc003wky.2_Silent_p.T1220T NM_170606 NP_733751 MLL3 58508 broad.mit.edu 37 7 151879966 151879966 + Intron SNP C G G 2011-2280:2012-366-T g.chr7:151879966C>G uc003wla.2 - MLL3_uc003wkz.2_Intron NM_170606 NP_733751 MLL3 58508 broad.mit.edu 37 7 151882697 151882697 + Silent SNP C T T 2011-2280:2012-366-T g.chr7:151882697C>T uc003wla.2 - 34 5247 c.5028G>A c.(5026-5028)AAG>AAA p.K1676K MLL3_uc003wkz.2_Silent_p.K737K NM_170606 NP_733751 PTPRN2 5799 broad.mit.edu 37 7 158316145 158316145 + Intron SNP C T T 2011-2280:2012-366-T g.chr7:158316145C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 DLGAP2 9228 broad.mit.edu 37 8 1571628 1571628 + Intron SNP C T T 2011-2280:2012-366-T g.chr8:1571628C>T uc003wpl.2 + DLGAP2_uc003wpm.2_Intron|uc003wpn.1_5'Flank NM_004745 NP_004736 STC1 6781 broad.mit.edu 37 8 23712225 23712225 + 5'UTR SNP G A A 2011-2280:2012-366-T g.chr8:23712225G>A uc003xdw.1 - 1 NM_003155 NP_003146 RB1CC1 9821 broad.mit.edu 37 8 53596062 53596062 + Intron SNP C T T rs75633355 2011-2280:2012-366-T g.chr8:53596062C>T uc003xre.3 - RB1CC1_uc003xrf.3_Intron NM_014781 NP_055596 UBR5 51366 broad.mit.edu 37 8 103300530 103300530 + Intron SNP T A A 2011-2280:2012-366-T g.chr8:103300530T>A uc003ykr.1 - UBR5_uc003yks.1_Intron NM_015902 NP_056986 UBR5 51366 broad.mit.edu 37 8 103306207 103306207 + Missense_Mutation SNP T C C 2011-2280:2012-366-T g.chr8:103306207T>C uc003ykr.1 - 33 4358 c.4325A>G c.(4324-4326)GAA>GGA p.E1442G UBR5_uc003yks.1_Missense_Mutation_p.E1442G NM_015902 NP_056986 CSMD3 114788 broad.mit.edu 37 8 113347715 113347715 + Intron SNP G T T rs149924431 by1000genomes 2011-2280:2012-366-T g.chr8:113347715G>T uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron|CSMD3_uc003ynw.1_Intron NM_198123 NP_937756 ENPP2 5168 broad.mit.edu 37 8 120569991 120569991 + Intron SNP G A A 2011-2280:2012-366-T g.chr8:120569991G>A uc003yot.1 - ENPP2_uc011lic.1_Intron|ENPP2_uc003yor.1_Intron|ENPP2_uc003yos.1_Intron|ENPP2_uc010mdd.1_Intron NM_001040092 NP_001035181 TOP1MT 116447 broad.mit.edu 37 8 144404717 144404717 + Intron SNP C T T 2011-2280:2012-366-T g.chr8:144404717C>T uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 RECQL4 9401 broad.mit.edu 37 8 145737578 145737578 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr8:145737578C>T uc003zdj.2 - 19 3217 c.3185G>A c.(3184-3186)CGG>CAG p.R1062Q NM_004260 NP_004251 JAK2 3717 broad.mit.edu 37 9 5065025 5065025 + Missense_Mutation SNP G A A 2011-2280:2012-366-T g.chr9:5065025G>A uc010mhm.2 + 8 1312 c.1199G>A c.(1198-1200)TGT>TAT p.C400Y JAK2_uc003ziw.2_Missense_Mutation_p.C400Y NM_004972 NP_004963 ADAMTSL1 92949 broad.mit.edu 37 9 18817182 18817182 + Missense_Mutation SNP G T T 2011-2280:2012-366-T g.chr9:18817182G>T uc003zne.3 + 21 4008 c.3881G>T c.(3880-3882)AGC>ATC p.S1294I NM_001040272 NP_001035362 FANCG 2189 broad.mit.edu 37 9 35076493 35076493 + Missense_Mutation SNP G T T 2011-2280:2012-366-T g.chr9:35076493G>T uc003zwb.1 - 8 1504 c.1012C>A c.(1012-1014)CTT>ATT p.L338I FANCG_uc003zwa.1_Missense_Mutation_p.L80I|FANCG_uc010mkj.1_Missense_Mutation_p.L80I|FANCG_uc011lot.1_Missense_Mutation_p.L338I NM_004629 NP_004620 NUP214 8021 broad.mit.edu 37 9 134050956 134050956 + Silent SNP G A A 2011-2280:2012-366-T g.chr9:134050956G>A uc004cag.2 + 23 3378 c.3267G>A c.(3265-3267)CCG>CCA p.P1089P NUP214_uc004cah.2_Silent_p.P1079P|NUP214_uc004cai.2_Silent_p.P519P|NUP214_uc004caf.1_Silent_p.P1078P|NUP214_uc010mzf.2_Silent_p.P387P NM_005085 NP_005076 TSC1 7248 broad.mit.edu 37 9 135785787 135785787 + Intron SNP C T T 2011-2280:2012-366-T g.chr9:135785787C>T uc004cca.2 - TSC1_uc004ccb.3_Intron|TSC1_uc011mcq.1_Intron|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Intron|TSC1_uc004ccc.1_3'UTR NM_000368 NP_000359 COL5A1 1289 broad.mit.edu 37 9 137546338 137546338 + Intron SNP A T T 2011-2280:2012-366-T g.chr9:137546338A>T uc004cfe.2 + NM_000093 NP_000084 NOTCH1 4851 broad.mit.edu 37 9 139399477 139399477 + Missense_Mutation SNP A G G 2011-2280:2012-366-T g.chr9:139399477A>G uc004chz.2 - 26 4666 c.4666T>C c.(4666-4668)TGG>CGG p.W1556R NOTCH1_uc004cia.1_Missense_Mutation_p.W786R NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139405140 139405140 + Missense_Mutation SNP C T T 2011-2280:2012-366-T g.chr9:139405140C>T uc004chz.2 - 17 2705 c.2705G>A c.(2704-2706)CGC>CAC p.R902H NOTCH1_uc004cia.1_Missense_Mutation_p.R132H NM_017617 NP_060087 PLCXD1 55344 broad.mit.edu 37 X 197297 197297 + 5'Flank SNP G A A 2011-2280:2012-366-T g.chrX:197297G>A uc004cpc.2 + PLCXD1_uc011mgx.1_Intron NM_018390 NP_060860 ATRX 546 broad.mit.edu 37 X 76889248 76889248 + Intron SNP T A A 2011-2280:2012-366-T g.chrX:76889248T>A uc004ecp.3 - ATRX_uc004ecq.3_Intron|ATRX_uc004eco.3_Intron NM_000489 NP_000480 GPR174 84636 broad.mit.edu 37 X 78427487 78427487 + Missense_Mutation SNP T C C 2011-2280:2012-366-T g.chrX:78427487T>C uc004edg.1 + 1 1019 c.983T>C c.(982-984)ATG>ACG p.M328T NM_032553 NP_115942 ODZ1 10178 broad.mit.edu 37 X 123519772 123519772 + Missense_Mutation SNP T C C 2011-2280:2012-366-T g.chrX:123519772T>C uc004euj.2 - 28 5874 c.5810A>G c.(5809-5811)TAC>TGC p.Y1937C ODZ1_uc011muj.1_Missense_Mutation_p.Y1943C|ODZ1_uc010nqy.2_Missense_Mutation_p.Y1944C NM_014253 NP_055068 ODZ1 10178 broad.mit.edu 37 X 123699290 123699290 + Missense_Mutation SNP T C C 2011-2280:2012-366-T g.chrX:123699290T>C uc004euj.2 - 12 2262 c.2198A>G c.(2197-2199)CAT>CGT p.H733R ODZ1_uc011muj.1_Missense_Mutation_p.H732R|ODZ1_uc010nqy.2_Missense_Mutation_p.H733R NM_014253 NP_055068 PRKCZ 5590 broad.mit.edu 37 1 2073601 2073601 + Intron SNP G A A 2011-2281:2012-1329-T g.chr1:2073601G>A uc001aiq.2 + PRKCZ_uc001air.2_Intron|PRKCZ_uc010nyw.1_Intron|PRKCZ_uc001ais.2_Intron|PRKCZ_uc009vla.2_5'Flank NM_002744 NP_002735 PHGDH 26227 broad.mit.edu 37 1 120254552 120254552 + 5'UTR SNP A C C 2011-2281:2012-1329-T g.chr1:120254552A>C uc001ehz.2 + 1 PHGDH_uc009whl.2_5'UTR|PHGDH_uc009whm.2_5'UTR|PHGDH_uc001eia.2_5'UTR|PHGDH_uc009whn.2_5'UTR NM_006623 NP_006614 NAV3 89795 broad.mit.edu 37 12 78443725 78443726 + Intron DNP AG GT GT 2011-2281:2012-1329-T g.chr12:78443725_78443726AG>GT uc001syp.2 + NAV3_uc001syo.2_Intron|NAV3_uc010sub.1_Intron NM_014903 NP_055718 RIMBP2 23504 broad.mit.edu 37 12 131130620 131130620 + Intron SNP C T T 2011-2281:2012-1329-T g.chr12:131130620C>T uc001uim.2 - F7 2155 broad.mit.edu 37 13 113761854 113761854 + Intron SNP C T T 2011-2281:2012-1329-T g.chr13:113761854C>T uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 DNAH3 55567 broad.mit.edu 37 16 20976062 20976062 + Silent SNP G T T 2011-2281:2012-1329-T g.chr16:20976062G>T uc010vbe.1 - 53 9144 c.9144C>A c.(9142-9144)CCC>CCA p.P3048P DNAH3_uc010vbd.1_Silent_p.P483P NM_017539 NP_060009 HYDIN 54768 broad.mit.edu 37 16 70916803 70916803 + Intron SNP G A A 2011-2281:2012-1329-T g.chr16:70916803G>A uc002ezr.2 - NM_032821 NP_116210 ZFPM1 161882 broad.mit.edu 37 16 88559382 88559382 + Intron SNP A C C 2011-2281:2012-1329-T g.chr16:88559382A>C uc002fkv.2 + NM_153813 NP_722520 CBFA2T3 863 broad.mit.edu 37 16 89020841 89020841 + Intron SNP C T T rs28647204 by1000genomes 2011-2281:2012-1329-T g.chr16:89020841C>T uc002fmm.1 - CBFA2T3_uc002fmn.1_Intron NM_005187 NP_005178 ZNF276 92822 broad.mit.edu 37 16 89805261 89805261 + 3'UTR SNP A G G rs1800359 byFrequency;by1000genomes 2011-2281:2012-1329-T g.chr16:89805261A>G uc002fos.3 + 11 ZNF276_uc010ciq.2_3'UTR|ZNF276_uc002foq.3_3'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_3'UTR|ZNF276_uc010cis.2_3'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_3'UTR|FANCA_uc002fou.1_Intron|FANCA_uc010vpn.1_Intron NM_001113525 NP_001106997 JUP 3728 broad.mit.edu 37 17 39754737 39754737 + Intron SNP T G G 2011-2281:2012-1329-T g.chr17:39754737T>G uc010wfs.1 - NM_021991 NP_068831 ATP9B 374868 broad.mit.edu 37 18 77068861 77068861 + Intron SNP G A A 2011-2281:2012-1329-T g.chr18:77068861G>A uc002lmx.2 + ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Intron|ATP9B_uc002lmz.1_Intron NM_198531 NP_940933 CTDP1 9150 broad.mit.edu 37 18 77505348 77505348 + Intron SNP C T T 2011-2281:2012-1329-T g.chr18:77505348C>T uc002lnh.1 + CTDP1_uc002lni.1_Intron|CTDP1_uc010drd.1_Intron NM_004715 NP_004706 RMND5A 64795 broad.mit.edu 37 2 87623364 87623364 + Intron SNP C T T 2011-2281:2012-1329-T g.chr2:87623364C>T uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87624066 87624066 + Intron SNP A T T 2011-2281:2012-1329-T g.chr2:87624066A>T uc002srs.3 + PMS1 5378 broad.mit.edu 37 2 190670399 190670399 + Missense_Mutation SNP G A A 2011-2281:2012-1329-T g.chr2:190670399G>A uc002urh.3 + 4 866 c.337G>A c.(337-339)GCT>ACT p.A113T PMS1_uc010zga.1_Missense_Mutation_p.A113T|PMS1_uc010zgb.1_Missense_Mutation_p.A52T|PMS1_uc002urk.3_Missense_Mutation_p.A113T|PMS1_uc002uri.3_Missense_Mutation_p.A113T|PMS1_uc010zgc.1_Intron|PMS1_uc010zgd.1_Intron|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.A113T|PMS1_uc010frz.2_Missense_Mutation_p.A113T|PMS1_uc010zfz.1_Missense_Mutation_p.A113T NM_000534 NP_000525 COL6A3 1293 broad.mit.edu 37 2 238285660 238285660 + Missense_Mutation SNP T A A 2011-2281:2012-1329-T g.chr2:238285660T>A uc002vwl.2 - 7 3110 c.2825A>T c.(2824-2826)CAG>CTG p.Q942L COL6A3_uc002vwo.2_Missense_Mutation_p.Q736L|COL6A3_uc010znj.1_Missense_Mutation_p.Q335L|COL6A3_uc002vwq.2_Missense_Mutation_p.Q736L|COL6A3_uc002vwr.2_Missense_Mutation_p.Q535L|COL6A3_uc010znk.1_Missense_Mutation_p.Q742L NM_004369 NP_004360 EWSR1 2130 broad.mit.edu 37 22 29669731 29669731 + Missense_Mutation SNP C T T 2011-2281:2012-1329-T g.chr22:29669731C>T uc003aet.2 + 4 432 c.104C>T c.(103-105)GCA>GTA p.A35V EWSR1_uc003aes.3_Missense_Mutation_p.A35V|EWSR1_uc003aev.2_Missense_Mutation_p.A35V|EWSR1_uc003aew.2_Missense_Mutation_p.A35V|EWSR1_uc003aex.2_Missense_Mutation_p.A35V NM_005243 NP_005234 EFCAB6 64800 broad.mit.edu 37 22 43926769 43926769 + Missense_Mutation SNP T C C 2011-2281:2012-1329-T g.chr22:43926769T>C uc003bdy.1 - 31 4524 c.4309A>G c.(4309-4311)AGG>GGG p.R1437G EFCAB6_uc003bdz.1_Missense_Mutation_p.R1285G|EFCAB6_uc010gzi.1_Missense_Mutation_p.R1285G NM_022785 NP_073622 SETD2 29072 broad.mit.edu 37 3 47127756 47127756 + Silent SNP G A A 2011-2281:2012-1329-T g.chr3:47127756G>A uc003cqs.2 - 11 5379 c.5326C>T c.(5326-5328)CTG>TTG p.L1776L SETD2_uc003cqv.2_Silent_p.L1843L|SETD2_uc003cqt.1_5'Flank NM_014159 NP_054878 ZIC4 84107 broad.mit.edu 37 3 147121811 147121811 + Intron SNP A G G 2011-2281:2012-1329-T g.chr3:147121811A>G uc003ewd.1 - ZIC4_uc011bno.1_Silent_p.P25P NM_032153 NP_115529 ZIC4 84107 broad.mit.edu 37 3 147121813 147121813 + Intron SNP G T T 2011-2281:2012-1329-T g.chr3:147121813G>T uc003ewd.1 - ZIC4_uc011bno.1_Missense_Mutation_p.P25T NM_032153 NP_115529 BCL6 604 broad.mit.edu 37 3 187451566 187451567 + Intron DNP GG AA AA 2011-2281:2012-1329-T g.chr3:187451566_187451567GG>AA uc003frp.3 - BCL6_uc011bsf.1_Intron|BCL6_uc010hza.2_Intron|BCL6_uc003frq.1_Intron NM_001130845 NP_001124317 TP63 8626 broad.mit.edu 37 3 189349247 189349247 + 5'UTR SNP A T T rs28673064 by1000genomes 2011-2281:2012-1329-T g.chr3:189349247A>T uc003fry.2 + 1 TP63_uc003frx.2_5'UTR|TP63_uc003frz.2_5'UTR|TP63_uc010hzc.1_5'UTR NM_003722 NP_003713 PCGF3 10336 broad.mit.edu 37 4 716718 716718 + Intron SNP C T T 2011-2281:2012-1329-T g.chr4:716718C>T uc011bva.1 + PCGF3_uc003gbc.1_Intron|PCGF3_uc003gbd.1_Intron|PCGF3_uc003gbe.2_Intron|PCGF3_uc010ibh.2_Intron|uc003gbf.2_Intron NM_006315 NP_006306 FAT2 2196 broad.mit.edu 37 5 150913828 150913828 + Intron SNP T A A 2011-2281:2012-1329-T g.chr5:150913828T>A uc003lue.3 - GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_5'Flank NM_001447 NP_001438 HLA-G 3135 broad.mit.edu 37 6 29864926 29864926 + Intron SNP C A A 2011-2281:2012-1329-T g.chr6:29864926C>A uc011dmb.1 + HCG2P7_uc003nof.2_5'Flank NM_002127 NP_002118 SYNE1 23345 broad.mit.edu 37 6 152552353 152552353 + Intron SNP G C C 2011-2281:2012-1329-T g.chr6:152552353G>C uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152553262 152553262 + Nonsense_Mutation SNP G A A 2011-2281:2012-1329-T g.chr6:152553262G>A uc010kiw.2 - 113 21453 c.20851C>T c.(20851-20853)CAG>TAG p.Q6951* SYNE1_uc010kiv.2_Nonsense_Mutation_p.Q1475*|SYNE1_uc003qos.3_Nonsense_Mutation_p.Q1475*|SYNE1_uc003qot.3_Nonsense_Mutation_p.Q6880*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q6951* NM_182961 NP_892006 KIF25 3834 broad.mit.edu 37 6 168444882 168444882 + Intron SNP T C C 2011-2281:2012-1329-T g.chr6:168444882T>C uc003qwk.1 + KIF25_uc003qwl.1_Intron NM_030615 NP_085118 EGFR 1956 broad.mit.edu 37 7 55235215 55235215 + Intron SNP G A A rs112001870 by1000genomes 2011-2281:2012-1329-T g.chr7:55235215G>A uc003tqk.2 + EGFR_uc003tqi.2_Intron|EGFR_uc003tqj.2_Intron|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Intron|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron NM_005228 NP_005219 PCLO 27445 broad.mit.edu 37 7 82583326 82583326 + Nonsense_Mutation SNP C A A 2011-2281:2012-1329-T g.chr7:82583326C>A uc003uhx.2 - 5 7232 c.6943G>T c.(6943-6945)GAA>TAA p.E2315* PCLO_uc003uhv.2_Nonsense_Mutation_p.E2315*|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 PTPRN2 5799 broad.mit.edu 37 7 157640579 157640579 + Intron SNP C T T 2011-2281:2012-1329-T g.chr7:157640579C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157980930 157980930 + Intron SNP G A A 2011-2281:2012-1329-T g.chr7:157980930G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158153253 158153253 + Intron SNP C T T 2011-2281:2012-1329-T g.chr7:158153253C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 TRAPPC9 83696 broad.mit.edu 37 8 140769146 140769146 + Intron SNP G A A 2011-2281:2012-1329-T g.chr8:140769146G>A uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron NM_001160372 NP_001153844 FLJ43860 389690 broad.mit.edu 37 8 142507385 142507385 + Intron SNP C G G rs112237873 2011-2281:2012-1329-T g.chr8:142507385C>G uc003ywi.2 - FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank NM_207414 NP_997297 RALGDS 5900 broad.mit.edu 37 9 135999394 135999394 + 5'Flank SNP G C C 2011-2281:2012-1329-T g.chr9:135999394G>C uc004cco.2 - RALGDS_uc004ccp.2_5'Flank|RALGDS_uc004ccq.2_5'Flank|RALGDS_uc004ccr.2_Intron|RALGDS_uc011mcv.1_Intron|RALGDS_uc004ccs.2_Intron|RALGDS_uc011mcw.1_Intron NM_006266 NP_006257 PPP2R3B 28227 broad.mit.edu 37 X 303062 303062 + Intron SNP T G G 2011-2281:2012-1329-T g.chrX:303062T>G uc004cpg.2 - PPP2R3B_uc004cpf.2_5'Flank NM_013239 NP_037371 GPR174 84636 broad.mit.edu 37 X 78426471 78426471 + 5'UTR SNP C T T rs3810712 by1000genomes 2011-2281:2012-1329-T g.chrX:78426471C>T uc004edg.1 + 1 NM_032553 NP_115942 GPR174 84636 broad.mit.edu 37 X 78426488 78426488 + 5'UTR SNP T C C rs3810711 by1000genomes 2011-2281:2012-1329-T g.chrX:78426488T>C uc004edg.1 + 1 NM_032553 NP_115942 HDX 139324 broad.mit.edu 37 X 83757817 83757817 + 5'Flank SNP G A A rs2294339 by1000genomes 2011-2281:2012-1329-T g.chrX:83757817G>A uc004eek.1 - HDX_uc011mqv.1_5'Flank|HDX_uc004eel.1_5'Flank NM_144657 NP_653258 IRF6 3664 broad.mit.edu 37 1 209969822 209969822 + Missense_Mutation SNP G A A rs121434226 2011-2282:2012-1330-T g.chr1:209969822G>A uc001hhq.1 - 4 513 c.250C>T c.(250-252)CGC>TGC p.R84C IRF6_uc010psm.1_5'UTR|IRF6_uc009xct.1_Missense_Mutation_p.R84C NM_006147 NP_006138 USH2A 7399 broad.mit.edu 37 1 216246085 216246085 + Intron SNP A G G 2011-2282:2012-1330-T g.chr1:216246085A>G uc001hku.1 - NM_206933 NP_996816 KDM5A 5927 broad.mit.edu 37 12 443484 443484 + Silent SNP G C C 2011-2282:2012-1330-T g.chr12:443484G>C uc001qif.1 - 11 1776 c.1413C>G c.(1411-1413)CTC>CTG p.L471L KDM5A_uc001qie.1_Silent_p.L471L|KDM5A_uc010sdn.1_Silent_p.L430L|KDM5A_uc010sdo.1_Silent_p.L90L NM_001042603 NP_001036068 MLL2 8085 broad.mit.edu 37 12 49428016 49428016 + Missense_Mutation SNP A G G 2011-2282:2012-1330-T g.chr12:49428016A>G uc001rta.3 - 38 10574 c.10574T>C c.(10573-10575)CTG>CCG p.L3525P NM_003482 NP_003473 MLL2 8085 broad.mit.edu 37 12 49439847 49439847 + Splice_Site SNP C A A 2011-2282:2012-1330-T g.chr12:49439847C>A uc001rta.3 - 17 4693 c.4693_splice c.e17+1 p.A1565_splice NM_003482 NP_003473 NLRP11 204801 broad.mit.edu 37 19 56307574 56307574 + Silent SNP G A A 2011-2282:2012-1330-T g.chr19:56307574G>A uc010ygf.1 - 8 2925 c.2214C>T c.(2212-2214)ATC>ATT p.I738I NLRP11_uc002qlz.2_Silent_p.I585I|NLRP11_uc002qmb.2_Silent_p.I639I|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 CD8A 925 broad.mit.edu 37 2 87017667 87017667 + Missense_Mutation SNP C T T 2011-2282:2012-1330-T g.chr2:87017667C>T uc002srt.2 - 2 1076 c.187G>A c.(187-189)GCC>ACC p.A63T RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.A63T|CD8A_uc010ytn.1_Missense_Mutation_p.A104T|CD8A_uc002sru.2_Missense_Mutation_p.A63T NM_001768 NP_001759 NFE2L2 4780 broad.mit.edu 37 2 178097443 178097443 + Intron SNP C A A 2011-2282:2012-1330-T g.chr2:178097443C>A uc002ulh.3 - NFE2L2_uc002ulg.3_Intron|NFE2L2_uc010zfa.1_Intron|NFE2L2_uc002uli.3_Intron|NFE2L2_uc010fra.2_3'UTR NM_006164 NP_006155 CASP8 841 broad.mit.edu 37 2 202106521 202106521 + Intron SNP C T T 2011-2282:2012-1330-T g.chr2:202106521C>T uc002uxr.1 + CASP8_uc010ftc.1_Intron|CASP8_uc002uxo.1_Intron|CASP8_uc002uxp.1_Intron|CASP8_uc002uxq.1_Intron|CASP8_uc002uxn.2_RNA NM_033355 NP_203519 MAP2 4133 broad.mit.edu 37 2 210595760 210595760 + 3'UTR SNP T C C 2011-2282:2012-1330-T g.chr2:210595760T>C uc002vde.1 + 15 MAP2_uc002vdd.1_3'UTR|MAP2_uc002vdf.1_3'UTR|MAP2_uc002vdg.1_3'UTR|MAP2_uc002vdh.1_3'UTR|MAP2_uc002vdi.1_3'UTR NM_002374 NP_002365 TGFBR2 7048 broad.mit.edu 37 3 30715685 30715685 + Missense_Mutation SNP A G G 2011-2282:2012-1330-T g.chr3:30715685A>G uc003ceo.2 + 5 1725 c.1343A>G c.(1342-1344)TAC>TGC p.Y448C TGFBR2_uc003cen.2_Missense_Mutation_p.Y473C NM_003242 NP_003233 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C G G rs121913483 2011-2282:2012-1330-T g.chr4:1803568C>G uc003gdr.3 + 7 1002 c.746C>G c.(745-747)TCC>TGC p.S249C FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C NM_000142 NP_000133 SMOC2 64094 broad.mit.edu 37 6 169014616 169014616 + Intron SNP G T T 2011-2282:2012-1330-T g.chr6:169014616G>T uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 PKD1L1 168507 broad.mit.edu 37 7 47852808 47852808 + Silent SNP C G G 2011-2282:2012-1330-T g.chr7:47852808C>G uc003tny.1 - 49 7257 c.7257G>C c.(7255-7257)CTG>CTC p.L2419L C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Silent_p.L146L NM_138295 NP_612152 GRM8 2918 broad.mit.edu 37 7 126173758 126173758 + Nonsense_Mutation SNP G A A 2011-2282:2012-1330-T g.chr7:126173758G>A uc003vlr.2 - 8 1989 c.1678C>T c.(1678-1680)CAG>TAG p.Q560* GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Nonsense_Mutation_p.Q560*|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 PKHD1L1 93035 broad.mit.edu 37 8 110401434 110401434 + Intron SNP C A A 2011-2282:2012-1330-T g.chr8:110401434C>A uc003yne.2 + NM_177531 NP_803875 KIAA2022 340533 broad.mit.edu 37 X 73963887 73963887 + Missense_Mutation SNP C T T 2011-2282:2012-1330-T g.chrX:73963887C>T uc004eby.2 - 3 1122 c.505G>A c.(505-507)GAT>AAT p.D169N NM_001008537 NP_001008537 FLG 2312 broad.mit.edu 37 1 152280002 152280002 + Missense_Mutation SNP T C C 2011-2283:2012-316-T g.chr1:152280002T>C uc001ezu.1 - 3 7396 c.7360A>G c.(7360-7362)ACG>GCG p.T2454A NM_002016 NP_002007 ADARB2 105 broad.mit.edu 37 10 1282029 1282029 + Intron SNP C A A 2011-2283:2012-316-T g.chr10:1282029C>A uc009xhq.2 - NM_018702 NP_061172 STYK1 55359 broad.mit.edu 37 12 10772744 10772744 + Nonstop_Mutation SNP C G G 2011-2283:2012-316-T g.chr12:10772744C>G uc001qys.2 - 11 1789 c.1268G>C c.(1267-1269)TGA>TCA p.*423S NM_018423 NP_060893 NAV3 89795 broad.mit.edu 37 12 78225426 78225426 + Missense_Mutation SNP G T T 2011-2283:2012-316-T g.chr12:78225426G>T uc001syp.2 + 1 358 c.185G>T c.(184-186)TGT>TTT p.C62F NAV3_uc001syo.2_Missense_Mutation_p.C62F NM_014903 NP_055718 CDADC1 81602 broad.mit.edu 37 13 49866322 49866322 + 3'UTR SNP C T T rs9535193 by1000genomes 2011-2283:2012-316-T g.chr13:49866322C>T uc001vcu.2 + 10 CDADC1_uc010tgk.1_3'UTR|CDADC1_uc001vcv.2_RNA NM_030911 NP_112173 COL4A2 1284 broad.mit.edu 37 13 111007803 111007803 + Intron SNP G T T 2011-2283:2012-316-T g.chr13:111007803G>T uc001vqx.2 + NM_001846 NP_001837 ATP11A 23250 broad.mit.edu 37 13 113494587 113494587 + Intron SNP C A A rs35327689 2011-2283:2012-316-T g.chr13:113494587C>A uc001vsi.3 + ATP11A_uc001vsj.3_Intron|ATP11A_uc001vsm.1_Intron|ATP11A_uc010ago.2_5'Flank NM_015205 NP_056020 ABR 29 broad.mit.edu 37 17 1021198 1021198 + Intron SNP G A A 2011-2283:2012-316-T g.chr17:1021198G>A uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T C C rs121912666 2011-2283:2012-316-T g.chr17:7578190T>C uc002gim.2 - 6 853 c.659A>G c.(658-660)TAT>TGT p.Y220C TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C NM_001126112 NP_001119584 MYH8 4626 broad.mit.edu 37 17 10299694 10299694 + Missense_Mutation SNP C T T 2011-2283:2012-316-T g.chr17:10299694C>T uc002gmm.2 - 33 4701 c.4606G>A c.(4606-4608)GTA>ATA p.V1536I uc002gml.1_Intron NM_002472 NP_002463 ABCA6 23460 broad.mit.edu 37 17 67099138 67099138 + Intron SNP T C C 2011-2283:2012-316-T g.chr17:67099138T>C uc002jhw.1 - NM_080284 NP_525023 ZNF521 25925 broad.mit.edu 37 18 22932442 22932442 + 5'Flank SNP C G G 2011-2283:2012-316-T g.chr18:22932442C>G uc002kvk.2 - ZNF521_uc010xbe.1_5'Flank|ZNF521_uc010dly.2_5'Flank|ZNF521_uc002kvl.2_5'Flank NM_015461 NP_056276 DOT1L 84444 broad.mit.edu 37 19 2201048 2201048 + Intron SNP G T T 2011-2283:2012-316-T g.chr19:2201048G>T uc002lvb.3 + NM_032482 NP_115871 NTN5 126147 broad.mit.edu 37 19 49172581 49172581 + Intron SNP T C C 2011-2283:2012-316-T g.chr19:49172581T>C uc002pkb.2 - SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|NTN5_uc002pkc.2_Intron NM_145807 NP_665806 MAP2 4133 broad.mit.edu 37 2 210568774 210568774 + Intron SNP G A A 2011-2283:2012-316-T g.chr2:210568774G>A uc002vde.1 + MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Intron NM_002374 NP_002365 HDAC4 9759 broad.mit.edu 37 2 240203285 240203285 + Intron SNP C T T 2011-2283:2012-316-T g.chr2:240203285C>T uc002vyk.3 - HDAC4_uc010fyz.1_Intron|HDAC4_uc010zoa.1_Intron|HDAC4_uc010fza.2_Intron NM_006037 NP_006028 PRDM15 63977 broad.mit.edu 37 21 43226374 43226374 + Intron SNP C T T 2011-2283:2012-316-T g.chr21:43226374C>T uc002yzq.1 - PRDM15_uc002yzo.2_Intron|PRDM15_uc002yzp.2_Intron|PRDM15_uc002yzr.1_Intron NM_022115 NP_071398 SI 6476 broad.mit.edu 37 3 164754257 164754257 + Missense_Mutation SNP T C C 2011-2283:2012-316-T g.chr3:164754257T>C uc003fei.2 - 22 2497 c.2435A>G c.(2434-2436)AAT>AGT p.N812S NM_001041 NP_001032 MUC4 4585 broad.mit.edu 37 3 195504401 195504401 + Intron SNP C G G 2011-2283:2012-316-T g.chr3:195504401C>G uc011bto.1 - MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 FAT1 2195 broad.mit.edu 37 4 187630427 187630427 + Nonsense_Mutation SNP G T T 2011-2283:2012-316-T g.chr4:187630427G>T uc003izf.2 - 2 743 c.555C>A c.(553-555)TAC>TAA p.Y185* FAT1_uc010iso.1_Nonsense_Mutation_p.Y185* NM_005245 NP_005236 PRDM9 56979 broad.mit.edu 37 5 23522457 23522457 + Missense_Mutation SNP G A A 2011-2283:2012-316-T g.chr5:23522457G>A uc003jgo.2 + 7 735 c.553G>A c.(553-555)GAA>AAA p.E185K NM_020227 NP_064612 FAT2 2196 broad.mit.edu 37 5 150911081 150911081 + Intron SNP G A A 2011-2283:2012-316-T g.chr5:150911081G>A uc003lue.3 - GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Intron NM_001447 NP_001438 UNC5A 90249 broad.mit.edu 37 5 176299785 176299786 + Intron DNP CT TC TC 2011-2283:2012-316-T g.chr5:176299785_176299786CT>TC uc003mey.2 + UNC5A_uc010jkg.1_Intron NM_133369 NP_588610 HLA-G 3135 broad.mit.edu 37 6 29910176 29910176 + Intron SNP C T T rs113695104 2011-2283:2012-316-T g.chr6:29910176C>T uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'Flank|HLA-A_uc003nok.2_5'Flank|HLA-A_uc003nol.2_5'Flank|HLA-A_uc003non.2_5'Flank|HLA-A_uc003noo.2_5'Flank|HLA-A_uc010jrr.2_5'Flank|HLA-A_uc003nom.2_5'Flank|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29910189 29910189 + Intron SNP A T T rs112660675 2011-2283:2012-316-T g.chr6:29910189A>T uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'Flank|HLA-A_uc003nok.2_5'Flank|HLA-A_uc003nol.2_5'Flank|HLA-A_uc003non.2_5'Flank|HLA-A_uc003noo.2_5'Flank|HLA-A_uc010jrr.2_5'Flank|HLA-A_uc003nom.2_5'Flank|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank NM_002127 NP_002118 HLA-A 3105 broad.mit.edu 37 6 29910892 29910892 + Intron SNP A G G rs9260145 2011-2283:2012-316-T g.chr6:29910892A>G uc003nol.2 + HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Intron|HLA-A_uc003noo.2_Intron|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank NM_002116 NP_002107 HLA-C 3107 broad.mit.edu 37 6 31238728 31238728 + Intron SNP G C C rs74532133 2011-2283:2012-316-T g.chr6:31238728G>C uc003nsy.2 - HLA-C_uc011dnj.1_Intron|HLA-C_uc003nsx.2_Intron|HLA-C_uc003nsz.2_Intron|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Intron|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Intron NM_002117 NP_002108 HLA-C 3107 broad.mit.edu 37 6 31238759 31238759 + Intron SNP C T T rs114028214 by1000genomes 2011-2283:2012-316-T g.chr6:31238759C>T uc003nsy.2 - HLA-C_uc011dnj.1_Intron|HLA-C_uc003nsx.2_Intron|HLA-C_uc003nsz.2_Intron|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Intron|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Intron NM_002117 NP_002108 HLA-C 3107 broad.mit.edu 37 6 31238762 31238762 + Intron SNP T C C rs112202897 2011-2283:2012-316-T g.chr6:31238762T>C uc003nsy.2 - HLA-C_uc011dnj.1_Intron|HLA-C_uc003nsx.2_Intron|HLA-C_uc003nsz.2_Intron|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Intron|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Intron NM_002117 NP_002108 SMOC2 64094 broad.mit.edu 37 6 169014436 169014436 + Intron SNP C T T rs149703584 by1000genomes 2011-2283:2012-316-T g.chr6:169014436C>T uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 EGFR 1956 broad.mit.edu 37 7 55227909 55227909 + Missense_Mutation SNP G C C 2011-2283:2012-316-T g.chr7:55227909G>C uc003tqk.2 + 12 1622 c.1376G>C c.(1375-1377)GGA>GCA p.G459A EGFR_uc003tqi.2_Missense_Mutation_p.G459A|EGFR_uc003tqj.2_Missense_Mutation_p.G459A|EGFR_uc010kzg.1_Missense_Mutation_p.G414A|EGFR_uc011kco.1_Missense_Mutation_p.G406A|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron NM_005228 NP_005219 EGFR 1956 broad.mit.edu 37 7 55269026 55269026 + Missense_Mutation SNP G A A 2011-2283:2012-316-T g.chr7:55269026G>A uc003tqk.2 + 25 3338 c.3092G>A c.(3091-3093)CGG>CAG p.R1031Q EGFR_uc010kzg.1_Missense_Mutation_p.R986Q|EGFR_uc011kco.1_Missense_Mutation_p.R978Q NM_005228 NP_005219 PKHD1L1 93035 broad.mit.edu 37 8 110534988 110534988 + Missense_Mutation SNP G C C 2011-2283:2012-316-T g.chr8:110534988G>C uc003yne.2 + 75 12303 c.12199G>C c.(12199-12201)GTT>CTT p.V4067L NM_177531 NP_803875 RECQL4 9401 broad.mit.edu 37 8 145741367 145741367 + Intron SNP C G G 2011-2283:2012-316-T g.chr8:145741367C>G uc003zdj.2 - LRRC14_uc003zdk.1_5'Flank|LRRC14_uc003zdl.1_5'Flank NM_004260 NP_004251 CD274 29126 broad.mit.edu 37 9 5467955 5467955 + 3'UTR SNP G A A rs2297136 by1000genomes 2011-2283:2012-316-T g.chr9:5467955G>A uc003zje.2 + 7 C9orf46_uc003zjd.2_Intron|CD274_uc010mhn.2_RNA|CD274_uc003zjf.2_3'UTR NM_014143 NP_054862 CDKN2A 1029 broad.mit.edu 37 9 21971080 21971080 + Missense_Mutation SNP G T T 2011-2283:2012-316-T g.chr9:21971080G>T uc003zpk.2 - 2 490 c.278C>A c.(277-279)ACG>AAG p.T93K MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.H148Q NM_000077 NP_000068 HUWE1 10075 broad.mit.edu 37 X 53641704 53641704 + Silent SNP T C C 2011-2283:2012-316-T g.chrX:53641704T>C uc004dsp.2 - 23 2454 c.2052A>G c.(2050-2052)TTA>TTG p.L684L NM_031407 NP_113584 HUWE1 10075 broad.mit.edu 37 X 53710799 53710799 + Intron SNP A C C 2011-2283:2012-316-T g.chrX:53710799A>C uc004dsp.2 - NM_031407 NP_113584 SERINC2 347735 broad.mit.edu 37 1 31904948 31904948 + Intron SNP A T T 2011-2284:2012-315-T g.chr1:31904948A>T uc010ogh.1 + SERINC2_uc010ogg.1_Intron|SERINC2_uc001bst.2_Intron|SERINC2_uc001bsu.2_Intron|SERINC2_uc001bsv.2_Intron NM_178865 NP_849196 NOTCH2 4853 broad.mit.edu 37 1 120457988 120457988 + Missense_Mutation SNP G A A 2011-2284:2012-315-T g.chr1:120457988G>A uc001eik.2 - 34 7613 c.7357C>T c.(7357-7359)CGG>TGG p.R2453W NM_024408 NP_077719 BCL9 607 broad.mit.edu 37 1 147076669 147076669 + 5'UTR SNP G A A 2011-2284:2012-315-T g.chr1:147076669G>A uc001epq.2 + 2 NM_004326 NP_004317 PDE3A 5139 broad.mit.edu 37 12 20766536 20766536 + Missense_Mutation SNP C T T 2011-2284:2012-315-T g.chr12:20766536C>T uc001reh.1 + 3 1193 c.1171C>T c.(1171-1173)CAC>TAC p.H391Y NM_000921 NP_000912 NAV3 89795 broad.mit.edu 37 12 78225464 78225464 + Missense_Mutation SNP A G G 2011-2284:2012-315-T g.chr12:78225464A>G uc001syp.2 + 1 396 c.223A>G c.(223-225)AAG>GAG p.K75E NAV3_uc001syo.2_Missense_Mutation_p.K75E NM_014903 NP_055718 FANCA 2175 broad.mit.edu 37 16 89818491 89818491 + Intron SNP T C C rs3743860 by1000genomes 2011-2284:2012-315-T g.chr16:89818491T>C uc002fou.1 - FANCA_uc010vpn.1_Intron|FANCA_uc010vpo.1_Intron NM_000135 NP_000126 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C T T rs28934578 2011-2284:2012-315-T g.chr17:7578406C>T uc002gim.2 - 5 718 c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H NM_001126112 NP_001119584 PRKCA 5578 broad.mit.edu 37 17 64795570 64795570 + Intron SNP T C C 2011-2284:2012-315-T g.chr17:64795570T>C uc002jfp.1 + NM_002737 NP_002728 ABCA9 10350 broad.mit.edu 37 17 67016609 67016609 + Silent SNP C G G rs149228541 byFrequency 2011-2284:2012-315-T g.chr17:67016609C>G uc002jhu.2 - 19 2663 c.2520G>C c.(2518-2520)GCG>GCC p.A840A ABCA9_uc010dez.2_Silent_p.A840A NM_080283 NP_525022 PPP1R12C 54776 broad.mit.edu 37 19 55621749 55621749 + Intron SNP T C C 2011-2284:2012-315-T g.chr19:55621749T>C uc002qix.2 - PPP1R12C_uc010yfs.1_Intron|PPP1R12C_uc002qiy.2_Intron NM_017607 NP_060077 PMS1 5378 broad.mit.edu 37 2 190649582 190649582 + Intron SNP C T T rs1899025 by1000genomes 2011-2284:2012-315-T g.chr2:190649582C>T uc002urh.3 + PMS1_uc010zga.1_Intron|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.3_Intron|PMS1_uc002uri.3_Intron|PMS1_uc010zgc.1_Intron|PMS1_uc010zgd.1_Intron|PMS1_uc002urj.2_Intron|ORMDL1_uc002urb.3_5'Flank|ORMDL1_uc002urc.3_5'Flank|ORMDL1_uc002urd.3_5'Flank|ORMDL1_uc002ure.3_5'Flank|ORMDL1_uc002urf.3_5'Flank|PMS1_uc010zfz.1_Intron NM_000534 NP_000525 MAP2 4133 broad.mit.edu 37 2 210557834 210557834 + Missense_Mutation SNP C G G 2011-2284:2012-315-T g.chr2:210557834C>G uc002vde.1 + 7 1188 c.940C>G c.(940-942)CCA>GCA p.P314A MAP2_uc002vdc.1_Missense_Mutation_p.P314A|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.P310A NM_002374 NP_002365 RIPK4 54101 broad.mit.edu 37 21 43165824 43165824 + Intron SNP T C C rs34366846 by1000genomes 2011-2284:2012-315-T g.chr21:43165824T>C uc002yzn.1 - NM_020639 NP_065690 CTNNB1 1499 broad.mit.edu 37 3 41266495 41266495 + Missense_Mutation SNP A G G 2011-2284:2012-315-T g.chr3:41266495A>G uc010hia.1 + 5 448 c.292A>G c.(292-294)ATG>GTG p.M98V CTNNB1_uc003ckp.2_Missense_Mutation_p.M98V|CTNNB1_uc003ckq.2_Missense_Mutation_p.M98V|CTNNB1_uc003ckr.2_Missense_Mutation_p.M98V|CTNNB1_uc011azf.1_Missense_Mutation_p.M91V|CTNNB1_uc011azg.1_Missense_Mutation_p.M26V|uc010hib.1_RNA NM_001904 NP_001895 MUC4 4585 broad.mit.edu 37 3 195503661 195503661 + Intron SNP C T T 2011-2284:2012-315-T g.chr3:195503661C>T uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 PCM1 5108 broad.mit.edu 37 8 17815338 17815338 + Intron SNP G T T 2011-2284:2012-315-T g.chr8:17815338G>T uc003wyi.3 + PCM1_uc011kyh.1_Intron|PCM1_uc003wyj.3_Intron|PCM1_uc010lta.1_Intron NM_006197 NP_006188 TEX15 56154 broad.mit.edu 37 8 30700051 30700051 + Silent SNP T C C 2011-2284:2012-315-T g.chr8:30700051T>C uc003xil.2 - 1 6483 c.6483A>G c.(6481-6483)GAA>GAG p.E2161E NM_031271 NP_112561 CSMD3 114788 broad.mit.edu 37 8 113277803 113277803 + Missense_Mutation SNP G C C 2011-2284:2012-315-T g.chr8:113277803G>C uc003ynu.2 - 60 9684 c.9525C>G c.(9523-9525)GAC>GAG p.D3175E CSMD3_uc003yns.2_Missense_Mutation_p.D2377E|CSMD3_uc003ynt.2_Missense_Mutation_p.D3135E|CSMD3_uc011lhx.1_Missense_Mutation_p.D3006E NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 114290941 114290941 + Intron SNP A C C 2011-2284:2012-315-T g.chr8:114290941A>C uc003ynu.2 - CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron|CSMD3_uc010mcx.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 114290946 114290947 + Intron DNP GG AT AT 2011-2284:2012-315-T g.chr8:114290946_114290947GG>AT uc003ynu.2 - CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron|CSMD3_uc010mcx.1_Intron NM_198123 NP_937756 MTOR 2475 broad.mit.edu 37 1 11303304 11303304 + Missense_Mutation SNP C G G 2011-2285:2012-326-T g.chr1:11303304C>G uc001asd.2 - 9 1400 c.1279G>C c.(1279-1281)GAG>CAG p.E427Q NM_004958 NP_004949 PDE4DIP 9659 broad.mit.edu 37 1 144915469 144915469 + Silent SNP C A A 2011-2285:2012-326-T g.chr1:144915469C>A uc001elw.3 - 14 2247 c.1956G>T c.(1954-1956)GTG>GTT p.V652V NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.V718V|PDE4DIP_uc001emc.1_Silent_p.V652V|PDE4DIP_uc001emd.1_Silent_p.V652V|PDE4DIP_uc001emb.1_Silent_p.V815V|PDE4DIP_uc001eme.1_Silent_p.V181V|PDE4DIP_uc001emf.1_Silent_p.V437V NM_014644 NP_055459 ASH1L 55870 broad.mit.edu 37 1 155340687 155340687 + Missense_Mutation SNP T A A 2011-2285:2012-326-T g.chr1:155340687T>A uc009wqq.2 - 11 6915 c.6435A>T c.(6433-6435)CAA>CAT p.Q2145H RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.Q2140H NM_018489 NP_060959 SMYD3 64754 broad.mit.edu 37 1 246188255 246188255 + Intron SNP T C C 2011-2285:2012-326-T g.chr1:246188255T>C uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 CELF2 10659 broad.mit.edu 37 10 11326398 11326398 + Intron SNP A G G 2011-2285:2012-326-T g.chr10:11326398A>G uc001iki.3 + CELF2_uc010qbi.1_Intron|CELF2_uc010qbj.1_Intron|CELF2_uc001ikk.2_Intron|CELF2_uc001ikl.3_Intron|CELF2_uc010qbk.1_Intron|CELF2_uc010qbl.1_Intron|CELF2_uc010qbm.1_Intron|CELF2_uc001iko.3_Intron|CELF2_uc001ikp.3_Intron|CELF2_uc010qbn.1_Intron|CELF2_uc010qbo.1_Intron|CELF2_uc010qbp.1_Intron NM_001025077 NP_001020248 FGFR2 2263 broad.mit.edu 37 10 123279745 123279745 + Intron SNP C T T rs2981448 by1000genomes 2011-2285:2012-326-T g.chr10:123279745C>T uc010qtk.1 - FGFR2_uc010qtg.1_Intron|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Intron|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_Intron|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfn.3_Intron|FGFR2_uc010qtn.1_Intron|FGFR2_uc010qto.1_Intron|FGFR2_uc001lfo.1_Intron|FGFR2_uc010qtp.1_Intron|FGFR2_uc001lfg.3_5'Flank NM_000141 NP_000132 PKP3 11187 broad.mit.edu 37 11 398555 398555 + Intron SNP G A A 2011-2285:2012-326-T g.chr11:398555G>A uc001lpc.2 + NM_007183 NP_009114 TMEM132D 121256 broad.mit.edu 37 12 129573518 129573518 + Intron SNP A G G 2011-2285:2012-326-T g.chr12:129573518A>G uc009zyl.1 - TMEM132D_uc001uia.2_5'Flank NM_133448 NP_597705 TMEM132D 121256 broad.mit.edu 37 12 129573526 129573526 + Intron SNP C T T 2011-2285:2012-326-T g.chr12:129573526C>T uc009zyl.1 - TMEM132D_uc001uia.2_5'Flank NM_133448 NP_597705 COL4A2 1284 broad.mit.edu 37 13 111007831 111007831 + Intron SNP T G G 2011-2285:2012-326-T g.chr13:111007831T>G uc001vqx.2 + NM_001846 NP_001837 BRCA1 672 broad.mit.edu 37 17 41244812 41244812 + Missense_Mutation SNP C G G 2011-2285:2012-326-T g.chr17:41244812C>G uc002icq.2 - 10 2968 c.2736G>C c.(2734-2736)AAG>AAC p.K912N BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.K841N|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.K865N|BRCA1_uc002ict.2_Missense_Mutation_p.K912N|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.K912N|BRCA1_uc002ide.1_Missense_Mutation_p.K743N|BRCA1_uc010cyy.1_Missense_Mutation_p.K912N|BRCA1_uc010whs.1_Missense_Mutation_p.K912N|BRCA1_uc010cyz.2_Missense_Mutation_p.K865N|BRCA1_uc010cza.2_Missense_Mutation_p.K886N|BRCA1_uc010wht.1_Missense_Mutation_p.K616N NM_007294 NP_009225 NOTCH3 4854 broad.mit.edu 37 19 15290125 15290125 + Intron SNP G A A rs56061231 by1000genomes 2011-2285:2012-326-T g.chr19:15290125G>A uc002nan.2 - NOTCH3_uc002nao.1_Intron NM_000435 NP_000426 CACNG7 59284 broad.mit.edu 37 19 54427653 54427653 + Intron SNP C T T 2011-2285:2012-326-T g.chr19:54427653C>T uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 PEG3 5178 broad.mit.edu 37 19 57327576 57327576 + Missense_Mutation SNP T A A 2011-2285:2012-326-T g.chr19:57327576T>A uc002qnu.2 - 7 2585 c.2234A>T c.(2233-2235)GAG>GTG p.E745V ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E716V|PEG3_uc002qnv.2_Missense_Mutation_p.E745V|PEG3_uc002qnw.2_Missense_Mutation_p.E621V|PEG3_uc002qnx.2_Missense_Mutation_p.E619V|PEG3_uc010etr.2_Missense_Mutation_p.E745V NM_001146186 NP_001139658 RMND5A 64795 broad.mit.edu 37 2 87580286 87580286 + Intron SNP C T T 2011-2285:2012-326-T g.chr2:87580286C>T uc002srs.3 + LRP1B 53353 broad.mit.edu 37 2 141072669 141072669 + Splice_Site SNP C G G 2011-2285:2012-326-T g.chr2:141072669C>G uc002tvj.1 - 83 13613 c.12641_splice c.e83-1 p.D4214_splice NM_018557 NP_061027 KCNQ2 3785 broad.mit.edu 37 20 62074043 62074043 + Intron SNP C T T 2011-2285:2012-326-T g.chr20:62074043C>T uc002yey.1 - KCNQ2_uc002yez.1_Intron|KCNQ2_uc002yfa.1_Intron|KCNQ2_uc002yfb.1_Intron|KCNQ2_uc011aax.1_Intron|KCNQ2_uc002yfc.1_Intron NM_172107 NP_742105 MLF1 4291 broad.mit.edu 37 3 158310278 158310278 + Missense_Mutation SNP G C C 2011-2285:2012-326-T g.chr3:158310278G>C uc003fcb.2 + 2 240 c.103G>C c.(103-105)GAA>CAA p.E35Q MLF1_uc003fbz.2_Missense_Mutation_p.E10Q|MLF1_uc003fca.2_Missense_Mutation_p.E10Q|MLF1_uc003fbx.2_Missense_Mutation_p.E10Q|MLF1_uc003fcc.2_Missense_Mutation_p.E51Q|MLF1_uc003fby.2_5'UTR|MLF1_uc010hvx.2_Missense_Mutation_p.E10Q NM_022443 NP_071888 MUC4 4585 broad.mit.edu 37 3 195498049 195498049 + Intron SNP T C C 2011-2285:2012-326-T g.chr3:195498049T>C uc011bto.1 - MUC4_uc003fuz.2_Intron|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 FGFR3 2261 broad.mit.edu 37 4 1806220 1806220 + Missense_Mutation SNP G C C rs140898926 2011-2285:2012-326-T g.chr4:1806220G>C uc003gdr.3 + 9 1495 c.1239G>C c.(1237-1239)AAG>AAC p.K413N FGFR3_uc003gdu.2_Missense_Mutation_p.K415N|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.K413N NM_000142 NP_000133 ADAMTS12 81792 broad.mit.edu 37 5 33576352 33576352 + Nonsense_Mutation SNP G C C 2011-2285:2012-326-T g.chr5:33576352G>C uc003jia.1 - 19 3942 c.3779C>G c.(3778-3780)TCA>TGA p.S1260* ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.S1175* NM_030955 NP_112217 PIK3R1 5295 broad.mit.edu 37 5 67591106 67591106 + Missense_Mutation SNP A G G 2011-2285:2012-326-T g.chr5:67591106A>G uc003jva.2 + 13 2259 c.1699A>G c.(1699-1701)AAA>GAA p.K567E PIK3R1_uc003jvb.2_Missense_Mutation_p.K567E|PIK3R1_uc003jvc.2_Missense_Mutation_p.K267E|PIK3R1_uc003jvd.2_Missense_Mutation_p.K297E|PIK3R1_uc003jve.2_Missense_Mutation_p.K246E|PIK3R1_uc011crb.1_Missense_Mutation_p.K237E NM_181523 NP_852664 BPHL 670 broad.mit.edu 37 6 3146114 3146114 + Intron SNP C T T 2011-2285:2012-326-T g.chr6:3146114C>T uc003mva.2 + BPHL_uc003muz.2_Intron|BPHL_uc011dht.1_Intron|BPHL_uc003muy.2_Intron NM_004332 NP_004323 HLA-G 3135 broad.mit.edu 37 6 29797553 29797553 + Intron SNP G C C rs1632937 2011-2285:2012-326-T g.chr6:29797553G>C uc003nnw.2 + HLA-G_uc011dmb.1_Intron|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 SYNE1 23345 broad.mit.edu 37 6 152784712 152784712 + Intron SNP G A A 2011-2285:2012-326-T g.chr6:152784712G>A uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qpa.1_Intron|SYNE1_uc003qow.2_5'Flank|SYNE1_uc003qox.1_Intron|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Intron NM_182961 NP_892006 TCP10 6953 broad.mit.edu 37 6 167800462 167800462 + 5'Flank SNP G A A 2011-2285:2012-326-T g.chr6:167800462G>A uc003qvv.1 - TCP10_uc003qvu.2_5'Flank|TCP10_uc003qvw.2_5'Flank NM_004610 NP_004601 PRKAR1B 5575 broad.mit.edu 37 7 628243 628243 + Intron SNP G A A 2011-2285:2012-326-T g.chr7:628243G>A uc003siu.1 - PRKAR1B_uc003siv.2_Intron|PRKAR1B_uc003siw.1_Intron|PRKAR1B_uc003six.1_Intron NM_002735 NP_002726 WDR86 349136 broad.mit.edu 37 7 151094842 151094842 + Intron SNP C T T rs111479982 2011-2285:2012-326-T g.chr7:151094842C>T uc003wkb.2 - WDR86_uc003wka.2_Intron|WDR86_uc011kvk.1_Intron|WDR86_uc003wkc.2_Intron NM_198285 NP_938026 EHMT1 79813 broad.mit.edu 37 9 140675595 140675595 + Intron SNP C T T rs146534686 by1000genomes 2011-2285:2012-326-T g.chr9:140675595C>T uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 KIAA0562 9731 broad.mit.edu 37 1 3741575 3741575 + Intron SNP G A A 2011-2286:2012-1321-T g.chr1:3741575G>A uc001aky.2 - KIAA0562_uc010nzm.1_Intron NM_014704 NP_055519 LOC200030 200030 broad.mit.edu 37 1 148342562 148342562 + Intron SNP A G G 2011-2286:2012-1321-T g.chr1:148342562A>G uc001eqf.2 - LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|NBPF14_uc009wkf.1_Intron|uc001erd.3_Intron|uc001erc.3_Intron|uc010paj.1_Intron|uc010pau.1_5'Flank|uc010pav.1_Intron|uc010paw.1_Intron NM_017940 NP_060410 FLG2 388698 broad.mit.edu 37 1 152327409 152327409 + Silent SNP G A A 2011-2286:2012-1321-T g.chr1:152327409G>A uc001ezw.3 - 3 2926 c.2853C>T c.(2851-2853)CAC>CAT p.H951H uc001ezv.2_Intron NM_001014342 NP_001014364 SPTA1 6708 broad.mit.edu 37 1 158589160 158589160 + Intron SNP C T T rs112185395 by1000genomes 2011-2286:2012-1321-T g.chr1:158589160C>T uc001fst.1 - NM_003126 NP_003117 SPTA1 6708 broad.mit.edu 37 1 158614151 158614151 + Missense_Mutation SNP C G G 2011-2286:2012-1321-T g.chr1:158614151C>G uc001fst.1 - 30 4429 c.4230G>C c.(4228-4230)TGG>TGC p.W1410C NM_003126 NP_003117 DDR2 4921 broad.mit.edu 37 1 162737044 162737044 + Silent SNP C T T 2011-2286:2012-1321-T g.chr1:162737044C>T uc001gcf.2 + 12 1653 c.1188C>T c.(1186-1188)AGC>AGT p.S396S DDR2_uc001gcg.2_Silent_p.S396S NM_001014796 NP_001014796 USH2A 7399 broad.mit.edu 37 1 216221721 216221721 + Intron SNP C T T rs10864227 by1000genomes 2011-2286:2012-1321-T g.chr1:216221721C>T uc001hku.1 - NM_206933 NP_996816 LHPP 64077 broad.mit.edu 37 10 126299417 126299417 + Intron SNP T C C 2011-2286:2012-1321-T g.chr10:126299417T>C uc001lhs.1 + LHPP_uc001lht.1_Intron|LHPP_uc009yai.1_Intron|LHPP_uc009yaj.1_Intron NM_022126 NP_071409 LHPP 64077 broad.mit.edu 37 10 126299421 126299421 + Intron SNP C T T 2011-2286:2012-1321-T g.chr10:126299421C>T uc001lhs.1 + LHPP_uc001lht.1_Intron|LHPP_uc009yai.1_Intron|LHPP_uc009yaj.1_Intron NM_022126 NP_071409 OSBPL5 114879 broad.mit.edu 37 11 3164365 3164366 + Intron DNP GG CC CC rs112732788;rs111577322 2011-2286:2012-1321-T g.chr11:3164365_3164366GG>CC uc001lxk.2 - OSBPL5_uc009ydw.2_Intron|OSBPL5_uc001lxl.2_Intron|OSBPL5_uc009ydx.2_Intron NM_020896 NP_065947 ELP4 26610 broad.mit.edu 37 11 31669265 31669265 + Intron SNP C G G 2011-2286:2012-1321-T g.chr11:31669265C>G uc001mtb.2 + ELP4_uc001mta.1_Intron|ELP4_uc001mtc.2_Intron|ELP4_uc010rdz.1_Intron NM_019040 NP_061913 CCND1 595 broad.mit.edu 37 11 69456016 69456016 + 5'UTR SNP G A A 2011-2286:2012-1321-T g.chr11:69456016G>A uc001opa.2 + 1 NM_053056 NP_444284 MLL2 8085 broad.mit.edu 37 12 49435443 49435443 + Nonsense_Mutation SNP G A A 2011-2286:2012-1321-T g.chr12:49435443G>A uc001rta.3 - 30 6229 c.6229C>T c.(6229-6231)CAG>TAG p.Q2077* NM_003482 NP_003473 NAV3 89795 broad.mit.edu 37 12 78513016 78513016 + Splice_Site SNP G T T 2011-2286:2012-1321-T g.chr12:78513016G>T uc001syp.2 + 15 3214 c.3041_splice c.e15-1 p.G1014_splice NAV3_uc001syo.2_Splice_Site_p.G1014_splice|NAV3_uc010sub.1_Splice_Site_p.G514_splice|NAV3_uc009zsf.2_Splice_Site_p.G22_splice NM_014903 NP_055718 CDADC1 81602 broad.mit.edu 37 13 49821784 49821784 + 5'Flank SNP G A A 2011-2286:2012-1321-T g.chr13:49821784G>A uc001vcu.2 + CDADC1_uc001vcs.1_5'Flank|CDADC1_uc001vct.1_5'Flank|CDADC1_uc010tgk.1_5'Flank|CDADC1_uc001vcv.2_5'Flank NM_030911 NP_112173 SYNE2 23224 broad.mit.edu 37 14 64634049 64634049 + Silent SNP A G G 2011-2286:2012-1321-T g.chr14:64634049A>G uc001xgm.2 + 91 16934 c.16704A>G c.(16702-16704)TTA>TTG p.L5568L SYNE2_uc001xgl.2_Silent_p.L5568L|SYNE2_uc010apy.2_Silent_p.L1953L|SYNE2_uc001xgn.2_Silent_p.L530L|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_5'Flank NM_015180 NP_055995 HAPLN3 145864 broad.mit.edu 37 15 89436295 89436295 + Intron SNP G A A rs8039131 by1000genomes 2011-2286:2012-1321-T g.chr15:89436295G>A uc002bnc.2 - HAPLN3_uc002bne.2_Intron|HAPLN3_uc002bnd.2_Nonsense_Mutation_p.Q17* NM_178232 NP_839946 TSC2 7249 broad.mit.edu 37 16 2105335 2105335 + Intron SNP C G G rs2516734 by1000genomes 2011-2286:2012-1321-T g.chr16:2105335C>G uc002con.2 + TSC2_uc010bsd.2_Intron|TSC2_uc002coo.2_Intron|TSC2_uc010uvv.1_Intron|TSC2_uc010uvw.1_Intron|TSC2_uc002cop.2_Intron NM_000548 NP_000539 ZFPM1 161882 broad.mit.edu 37 16 88552870 88552870 + Intron SNP G T T 2011-2286:2012-1321-T g.chr16:88552870G>T uc002fkv.2 + NM_153813 NP_722520 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C A A rs11540652 2011-2286:2012-1321-T g.chr17:7577538C>A uc002gim.2 - 7 937 c.743G>T c.(742-744)CGG>CTG p.R248L TP53_uc002gig.1_Missense_Mutation_p.R248L|TP53_uc002gih.2_Missense_Mutation_p.R248L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116L|TP53_uc010cng.1_Missense_Mutation_p.R116L|TP53_uc002gii.1_Missense_Mutation_p.R116L|TP53_uc010cnh.1_Missense_Mutation_p.R248L|TP53_uc010cni.1_Missense_Mutation_p.R248L|TP53_uc002gij.2_Missense_Mutation_p.R248L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155L|TP53_uc002gio.2_Missense_Mutation_p.R116L NM_001126112 NP_001119584 CCDC57 284001 broad.mit.edu 37 17 80108097 80108097 + Intron SNP C A A 2011-2286:2012-1321-T g.chr17:80108097C>A uc002kdx.1 - CCDC57_uc002kdy.2_Intron NM_198082 NP_932348 DCC 1630 broad.mit.edu 37 18 50912476 50912476 + Missense_Mutation SNP T C C 2011-2286:2012-1321-T g.chr18:50912476T>C uc002lfe.1 + 16 3010 c.2423T>C c.(2422-2424)CTT>CCT p.L808P DCC_uc010xdr.1_Missense_Mutation_p.L656P|DCC_uc010dpf.1_Missense_Mutation_p.L463P NM_005215 NP_005206 KCNG2 26251 broad.mit.edu 37 18 77625274 77625274 + Intron SNP G A A 2011-2286:2012-1321-T g.chr18:77625274G>A uc010xfl.1 + NM_012283 NP_036415 KEAP1 9817 broad.mit.edu 37 19 10602620 10602620 + Missense_Mutation SNP G A A 2011-2286:2012-1321-T g.chr19:10602620G>A uc002moq.1 - 3 1114 c.958C>T c.(958-960)CGG>TGG p.R320W KEAP1_uc002mop.1_Missense_Mutation_p.R38W|KEAP1_uc002mor.1_Missense_Mutation_p.R320W NM_012289 NP_036421 TPRX1 284355 broad.mit.edu 37 19 48305666 48305666 + Missense_Mutation SNP A C C 2011-2286:2012-1321-T g.chr19:48305666A>C uc002php.1 - 2 673 c.602T>G c.(601-603)GTC>GGC p.V201G NM_198479 NP_940881 ZNF578 147660 broad.mit.edu 37 19 52977439 52977439 + Intron SNP C T T 2011-2286:2012-1321-T g.chr19:52977439C>T uc002pzp.3 + NM_001099694 NP_001093164 NLRP4 147945 broad.mit.edu 37 19 56363616 56363616 + Missense_Mutation SNP A G G 2011-2286:2012-1321-T g.chr19:56363616A>G uc002qmd.3 + 2 592 c.170A>G c.(169-171)AAC>AGC p.N57S NM_134444 NP_604393 SNTG2 54221 broad.mit.edu 37 2 1112701 1112701 + Intron SNP G T T 2011-2286:2012-1321-T g.chr2:1112701G>T uc002qwq.2 + SNTG2_uc002qwp.2_Intron|SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 TPO 7173 broad.mit.edu 37 2 1515057 1515057 + Intron SNP G A A rs4927587 2011-2286:2012-1321-T g.chr2:1515057G>A uc002qww.2 + TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Intron|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron NM_000547 NP_000538 RMND5A 64795 broad.mit.edu 37 2 87624066 87624066 + Intron SNP A T T 2011-2286:2012-1321-T g.chr2:87624066A>T uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87633651 87633651 + Intron SNP C A A 2011-2286:2012-1321-T g.chr2:87633651C>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87634113 87634113 + Intron SNP C A A 2011-2286:2012-1321-T g.chr2:87634113C>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87634178 87634178 + Intron SNP C A A 2011-2286:2012-1321-T g.chr2:87634178C>A uc002srs.3 + GLI2 2736 broad.mit.edu 37 2 121582949 121582949 + Intron SNP A G G rs13387683 byFrequency;by1000genomes 2011-2286:2012-1321-T g.chr2:121582949A>G uc010flp.2 + GLI2_uc010yyu.1_Intron|GLI2_uc002tmp.1_Intron|GLI2_uc010fln.1_Intron|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Intron NM_005270 NP_005261 LRP1B 53353 broad.mit.edu 37 2 141253400 141253400 + Intron SNP G A A 2011-2286:2012-1321-T g.chr2:141253400G>A uc002tvj.1 - NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141259297 141259297 + Nonsense_Mutation SNP C A A 2011-2286:2012-1321-T g.chr2:141259297C>A uc002tvj.1 - 55 9781 c.8809G>T c.(8809-8811)GGA>TGA p.G2937* NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141641570 141641570 + Missense_Mutation SNP C A A 2011-2286:2012-1321-T g.chr2:141641570C>A uc002tvj.1 - 25 4957 c.3985G>T c.(3985-3987)GTT>TTT p.V1329F LRP1B_uc010fnl.1_Missense_Mutation_p.V511F NM_018557 NP_061027 TTN 7273 broad.mit.edu 37 2 179577255 179577255 + Nonsense_Mutation SNP C A A 2011-2286:2012-1321-T g.chr2:179577255C>A uc010zfg.1 - 92 23886 c.23662G>T c.(23662-23664)GAG>TAG p.E7888* TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E4549* NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179584009 179584009 + Silent SNP C T T 2011-2286:2012-1321-T g.chr2:179584009C>T uc010zfg.1 - 80 20600 c.20376G>A c.(20374-20376)TCG>TCA p.S6792S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S3453S NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179588531 179588531 + Intron SNP A G G 2011-2286:2012-1321-T g.chr2:179588531A>G uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133378 NP_596869 C2orf83 56918 broad.mit.edu 37 2 228482297 228482297 + Intron SNP C T T rs112642205 2011-2286:2012-1321-T g.chr2:228482297C>T uc002vph.2 - C2orf83_uc010zlu.1_Intron NM_020161 NP_064546 PLCB1 23236 broad.mit.edu 37 20 8626850 8626850 + Intron SNP G A A rs7273982 by1000genomes 2011-2286:2012-1321-T g.chr20:8626850G>A uc002wnb.2 + PLCB1_uc010zrb.1_Intron|PLCB1_uc010gbv.1_Intron|PLCB1_uc002wmz.1_Intron|PLCB1_uc002wna.2_Intron|PLCB1_uc002wnc.1_Intron NM_015192 NP_056007 MX2 4600 broad.mit.edu 37 21 42778886 42778886 + Silent SNP C T T 2011-2286:2012-1321-T g.chr21:42778886C>T uc002yzf.1 + 13 1970 c.1866C>T c.(1864-1866)TCC>TCT p.S622S MX2_uc002yzg.1_Silent_p.S345S|MX2_uc010gop.1_Silent_p.S104S NM_002463 NP_002454 THOC5 8563 broad.mit.edu 37 22 29905735 29905735 + Intron SNP C G G rs7292442 2011-2286:2012-1321-T g.chr22:29905735C>G uc003afr.2 - THOC5_uc003afq.2_Intron|THOC5_uc003afs.2_Intron|THOC5_uc003aft.2_Intron|THOC5_uc003afu.2_Intron|THOC5_uc010gvo.2_Intron NM_001002878 NP_001002878 XRCC6 2547 broad.mit.edu 37 22 42024404 42024404 + Intron SNP A G G 2011-2286:2012-1321-T g.chr22:42024404A>G uc003bao.1 + XRCC6_uc003bap.1_Intron|XRCC6_uc011apc.1_Intron|XRCC6_uc003baq.1_Intron|XRCC6_uc003bar.1_Intron|XRCC6_uc003bas.1_Intron NM_001469 NP_001460 ALG12 79087 broad.mit.edu 37 22 50305724 50305724 + Intron SNP G A A rs151082626 by1000genomes 2011-2286:2012-1321-T g.chr22:50305724G>A uc003biy.2 - NM_024105 NP_077010 EPHA3 2042 broad.mit.edu 37 3 89390228 89390228 + Intron SNP A T T 2011-2286:2012-1321-T g.chr3:89390228A>T uc003dqy.2 + EPHA3_uc003dqx.1_Intron|EPHA3_uc010hon.1_Intron NM_005233 NP_005224 EPHA3 2042 broad.mit.edu 37 3 89468508 89468508 + Missense_Mutation SNP A G G 2011-2286:2012-1321-T g.chr3:89468508A>G uc003dqy.2 + 11 2267 c.2042A>G c.(2041-2043)AAT>AGT p.N681S EPHA3_uc010hon.1_RNA NM_005233 NP_005224 PIK3CB 5291 broad.mit.edu 37 3 138452152 138452152 + Intron SNP T C C 2011-2286:2012-1321-T g.chr3:138452152T>C uc011bmq.1 - NM_006219 NP_006210 MLF1 4291 broad.mit.edu 37 3 158323000 158323000 + 3'UTR SNP G T T 2011-2286:2012-1321-T g.chr3:158323000G>T uc003fcb.2 + 7 MLF1_uc003fbz.2_3'UTR|MLF1_uc003fca.2_3'UTR|MLF1_uc003fbx.2_3'UTR|MLF1_uc003fcc.2_3'UTR|MLF1_uc003fby.2_3'UTR|MLF1_uc010hvx.2_3'UTR NM_022443 NP_071888 SI 6476 broad.mit.edu 37 3 164716357 164716357 + Missense_Mutation SNP C G G 2011-2286:2012-1321-T g.chr3:164716357C>G uc003fei.2 - 38 4573 c.4511G>C c.(4510-4512)CGA>CCA p.R1504P NM_001041 NP_001032 GABRA4 2557 broad.mit.edu 37 4 46995856 46995856 + 5'Flank SNP G T T 2011-2286:2012-1321-T g.chr4:46995856G>T uc003gxg.2 - NM_000809 NP_000800 FAT4 79633 broad.mit.edu 37 4 126237241 126237241 + 5'Flank SNP A G G rs7677005 by1000genomes 2011-2286:2012-1321-T g.chr4:126237241A>G uc003ifj.3 + NM_024582 NP_078858 CEP72 55722 broad.mit.edu 37 5 649656 649656 + Intron SNP G T T 2011-2286:2012-1321-T g.chr5:649656G>T uc003jbf.2 + NM_018140 NP_060610 ADAMTS16 170690 broad.mit.edu 37 5 5305479 5305479 + Intron SNP T C C rs112989316 2011-2286:2012-1321-T g.chr5:5305479T>C uc003jdl.2 + NM_139056 NP_620687 APC 324 broad.mit.edu 37 5 112170916 112170916 + Intron SNP A C C rs17164137 by1000genomes 2011-2286:2012-1321-T g.chr5:112170916A>C uc010jby.2 + APC_uc011cvt.1_Intron|APC_uc003kpz.3_Intron|APC_uc003kpy.3_Intron|APC_uc010jbz.2_Intron|APC_uc010jca.2_Intron NM_001127511 NP_001120983 PCDHA6 56142 broad.mit.edu 37 5 140208406 140208406 + Missense_Mutation SNP C A A 2011-2286:2012-1321-T g.chr5:140208406C>A uc003lho.2 + 1 757 c.730C>A c.(730-732)CAG>AAG p.Q244K PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.Q244K|PCDHA6_uc011dab.1_Missense_Mutation_p.Q244K NM_018909 NP_061732 EBF1 1879 broad.mit.edu 37 5 158204538 158204538 + Missense_Mutation SNP G T T 2011-2286:2012-1321-T g.chr5:158204538G>T uc010jip.2 - 10 1221 c.919C>A c.(919-921)CCT>ACT p.P307T EBF1_uc011ddw.1_Missense_Mutation_p.P175T|EBF1_uc011ddx.1_Missense_Mutation_p.P308T|EBF1_uc003lxl.3_Missense_Mutation_p.P276T NM_024007 NP_076870 HLA-G 3135 broad.mit.edu 37 6 29796115 29796115 + Intron SNP A C C rs112886424 2011-2286:2012-1321-T g.chr6:29796115A>C uc003nnw.2 + HLA-G_uc011dmb.1_Intron|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29909071 29909071 + Intron SNP G A A rs112279698 2011-2286:2012-1321-T g.chr6:29909071G>A uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'Flank|HLA-A_uc003nok.2_5'Flank|HLA-A_uc003nol.2_5'Flank|HLA-A_uc003non.2_5'Flank|HLA-A_uc003noo.2_5'Flank|HLA-A_uc010jrr.2_5'Flank|HLA-A_uc003nom.2_5'Flank|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank NM_002127 NP_002118 TAP1 6890 broad.mit.edu 37 6 32816054 32816054 + Intron SNP G A A rs735883 by1000genomes 2011-2286:2012-1321-T g.chr6:32816054G>A uc003ocg.2 - TAP1_uc011dqi.1_Intron NM_000593 NP_000584 SYNE1 23345 broad.mit.edu 37 6 152563540 152563540 + Silent SNP G A A 2011-2286:2012-1321-T g.chr6:152563540G>A uc010kiw.2 - 107 20330 c.19728C>T c.(19726-19728)TCC>TCT p.S6576S SYNE1_uc010kiv.2_Silent_p.S1100S|SYNE1_uc003qos.3_Silent_p.S1100S|SYNE1_uc003qot.3_Silent_p.S6505S|SYNE1_uc003qou.3_Silent_p.S6576S NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152730128 152730128 + Intron SNP A G G 2011-2286:2012-1321-T g.chr6:152730128A>G uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron NM_182961 NP_892006 SMOC2 64094 broad.mit.edu 37 6 169014387 169014387 + Intron SNP A C C 2011-2286:2012-1321-T g.chr6:169014387A>C uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 SMOC2 64094 broad.mit.edu 37 6 169015419 169015419 + Intron SNP A G G 2011-2286:2012-1321-T g.chr6:169015419A>G uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 TBP 6908 broad.mit.edu 37 6 170871142 170871142 + Silent SNP G A A 2011-2286:2012-1321-T g.chr6:170871142G>A uc003qxt.2 + 3 550 c.318G>A c.(316-318)ACG>ACA p.T106T TBP_uc003qxu.2_Silent_p.T106T|TBP_uc011ehf.1_Silent_p.T86T|TBP_uc011ehg.1_Silent_p.T106T NM_003194 NP_003185 PRKAR1B 5575 broad.mit.edu 37 7 594245 594245 + Intron SNP C T T 2011-2286:2012-1321-T g.chr7:594245C>T uc003siu.1 - PRKAR1B_uc003siv.2_Intron|PRKAR1B_uc003siw.1_Intron NM_002735 NP_002726 C7orf50 84310 broad.mit.edu 37 7 1056248 1056248 + Intron SNP C T T rs115508233 by1000genomes 2011-2286:2012-1321-T g.chr7:1056248C>T uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 THSD7A 221981 broad.mit.edu 37 7 11630190 11630190 + Missense_Mutation SNP G T T 2011-2286:2012-1321-T g.chr7:11630190G>T uc003ssf.3 - 4 1602 c.1350C>A c.(1348-1350)AAC>AAA p.N450K NM_015204 NP_056019 THSD7A 221981 broad.mit.edu 37 7 11675807 11675807 + Silent SNP C T T 2011-2286:2012-1321-T g.chr7:11675807C>T uc003ssf.3 - 2 1224 c.972G>A c.(970-972)CAG>CAA p.Q324Q NM_015204 NP_056019 BBS9 27241 broad.mit.edu 37 7 33168887 33168887 + 5'Flank SNP T G G rs10259915 by1000genomes 2011-2286:2012-1321-T g.chr7:33168887T>G uc003tdn.1 + BBS9_uc003tdo.1_5'Flank|BBS9_uc003tdp.1_5'Flank|BBS9_uc003tdq.1_5'Flank|BBS9_uc010kwn.1_5'Flank NM_198428 NP_940820 ZNF804B 219578 broad.mit.edu 37 7 88963830 88963830 + Nonsense_Mutation SNP A T T 2011-2286:2012-1321-T g.chr7:88963830A>T uc011khi.1 + 4 2072 c.1534A>T c.(1534-1536)AGA>TGA p.R512* NM_181646 NP_857597 RELN 5649 broad.mit.edu 37 7 103143514 103143514 + Missense_Mutation SNP G T T 2011-2286:2012-1321-T g.chr7:103143514G>T uc003vca.2 - 52 8598 c.8438C>A c.(8437-8439)ACT>AAT p.T2813N RELN_uc010liz.2_Missense_Mutation_p.T2813N NM_005045 NP_005036 ZFHX4 79776 broad.mit.edu 37 8 77619967 77619967 + Missense_Mutation SNP G A A 2011-2286:2012-1321-T g.chr8:77619967G>A uc003yav.2 + 3 3086 c.2699G>A c.(2698-2700)AGT>AAT p.S900N ZFHX4_uc003yat.1_Missense_Mutation_p.S900N|ZFHX4_uc003yau.1_Missense_Mutation_p.S926N|ZFHX4_uc003yaw.1_Missense_Mutation_p.S900N NM_024721 NP_078997 CSMD3 114788 broad.mit.edu 37 8 113317230 113317231 + Intron DNP TC AA AA 2011-2286:2012-1321-T g.chr8:113317230_113317231TC>AA uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 114185985 114185985 + Silent SNP T A A 2011-2286:2012-1321-T g.chr8:114185985T>A uc003ynu.2 - 4 834 c.675A>T c.(673-675)ACA>ACT p.T225T CSMD3_uc003ynt.2_Silent_p.T185T|CSMD3_uc011lhx.1_Silent_p.T225T|CSMD3_uc010mcx.1_Silent_p.T225T NM_198123 NP_937756 TRAPPC9 83696 broad.mit.edu 37 8 140816436 140816436 + Intron SNP A T T 2011-2286:2012-1321-T g.chr8:140816436A>T uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron NM_001160372 NP_001153844 HEPH 9843 broad.mit.edu 37 X 65408407 65408407 + Intron SNP A T T 2011-2286:2012-1321-T g.chrX:65408407A>T uc011moz.1 + HEPH_uc004dwn.2_Intron|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Intron NM_138737 NP_620074 HEPH 9843 broad.mit.edu 37 X 65413557 65413557 + Intron SNP C T T 2011-2286:2012-1321-T g.chrX:65413557C>T uc011moz.1 + HEPH_uc004dwn.2_Intron|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Intron NM_138737 NP_620074 GPR174 84636 broad.mit.edu 37 X 78427092 78427092 + Silent SNP T A A 2011-2286:2012-1321-T g.chrX:78427092T>A uc004edg.1 + 1 624 c.588T>A c.(586-588)ACT>ACA p.T196T NM_032553 NP_115942 MACF1 23499 broad.mit.edu 37 1 39766055 39766055 + Intron SNP C T T rs2275186 by1000genomes 2011-2288:2012-1331-T g.chr1:39766055C>T uc010ois.1 + MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc009vvq.1_Intron|MACF1_uc001cdb.1_Intron NM_012090 NP_036222 WDR63 126820 broad.mit.edu 37 1 85595645 85595645 + Intron SNP C T T rs1020770 by1000genomes 2011-2288:2012-1331-T g.chr1:85595645C>T uc001dkt.2 + WDR63_uc009wcl.2_Intron NM_145172 NP_660155 SPAG17 200162 broad.mit.edu 37 1 118530840 118530840 + Intron SNP A T T 2011-2288:2012-1331-T g.chr1:118530840A>T uc001ehk.2 - NM_206996 NP_996879 LRRTM3 347731 broad.mit.edu 37 10 68686753 68686753 + Missense_Mutation SNP C G G 2011-2288:2012-1331-T g.chr10:68686753C>G uc001jmz.1 + 2 629 c.79C>G c.(79-81)CTT>GTT p.L27V CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.L27V NM_178011 NP_821079 LSP1 4046 broad.mit.edu 37 11 1895084 1895084 + Intron SNP G C C 2011-2288:2012-1331-T g.chr11:1895084G>C uc001lui.2 + LSP1_uc001luj.2_Intron|LSP1_uc001luk.2_Intron|LSP1_uc001lul.2_Intron|LSP1_uc001lum.2_Intron NM_002339 NP_002330 C1QTNF8 390664 broad.mit.edu 37 16 1143083 1143083 + Intron SNP C A A 2011-2288:2012-1331-T g.chr16:1143083C>A uc010uuw.1 - NM_207419 NP_997302 RPL3L 6123 broad.mit.edu 37 16 2000089 2000089 + Intron SNP T G G 2011-2288:2012-1331-T g.chr16:2000089T>G uc002cnh.2 - NM_005061 NP_005052 FANCA 2175 broad.mit.edu 37 16 89837951 89837951 + Intron SNP T C C rs11076622 byFrequency;by1000genomes 2011-2288:2012-1331-T g.chr16:89837951T>C uc002fou.1 - FANCA_uc010vpn.1_Intron NM_000135 NP_000126 STAT3 6774 broad.mit.edu 37 17 40489939 40489939 + Intron SNP T G G rs62075766 by1000genomes 2011-2288:2012-1331-T g.chr17:40489939T>G uc002hzl.1 - STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron NM_139276 NP_644805 ABCA6 23460 broad.mit.edu 37 17 67081732 67081732 + Intron SNP C T T rs2302133 by1000genomes 2011-2288:2012-1331-T g.chr17:67081732C>T uc002jhw.1 - NM_080284 NP_525023 SLC39A11 201266 broad.mit.edu 37 17 70944416 70944416 + Intron SNP T C C 2011-2288:2012-1331-T g.chr17:70944416T>C uc002jjb.2 - SLC39A11_uc002jja.2_Intron|SLC39A11_uc002jjc.1_Intron NM_001159770 NP_001153242 BCL2 596 broad.mit.edu 37 18 60865848 60865848 + Intron SNP C G G 2011-2288:2012-1331-T g.chr18:60865848C>G uc002lit.1 - BCL2_uc002liu.1_Intron NM_000633 NP_000624 MBP 4155 broad.mit.edu 37 18 74749252 74749252 + Intron SNP G A A rs116665438 by1000genomes 2011-2288:2012-1331-T g.chr18:74749252G>A uc010xfd.1 - MBP_uc002lmr.2_Intron NM_001025101 NP_001020272 RMND5A 64795 broad.mit.edu 37 2 87623376 87623376 + Intron SNP G A A 2011-2288:2012-1331-T g.chr2:87623376G>A uc002srs.3 + YTHDC1 91746 broad.mit.edu 37 4 69189874 69189874 + Missense_Mutation SNP T C C 2011-2288:2012-1331-T g.chr4:69189874T>C uc003hdx.2 - 10 1770 c.1417A>G c.(1417-1419)ATC>GTC p.I473V YTHDC1_uc003hdy.2_Missense_Mutation_p.I455V NM_001031732 NP_001026902 SLC10A7 84068 broad.mit.edu 37 4 147207853 147207853 + Intron SNP T A A rs75299446 by1000genomes 2011-2288:2012-1331-T g.chr4:147207853T>A uc010ioz.2 - SLC10A7_uc003ikr.2_Intron|SLC10A7_uc010ipa.2_Intron|SLC10A7_uc003iks.2_Intron NM_001029998 NP_001025169 APC 324 broad.mit.edu 37 5 112173665 112173665 + Nonsense_Mutation SNP A T T 2011-2288:2012-1331-T g.chr5:112173665A>T uc010jby.2 + 16 2754 c.2374A>T c.(2374-2376)AAG>TAG p.K792* APC_uc011cvt.1_Nonsense_Mutation_p.K774*|APC_uc003kpz.3_Nonsense_Mutation_p.K792*|APC_uc003kpy.3_Nonsense_Mutation_p.K792*|APC_uc010jbz.2_Nonsense_Mutation_p.K509*|APC_uc010jca.2_Nonsense_Mutation_p.K92* NM_001127511 NP_001120983 NSD1 64324 broad.mit.edu 37 5 176720766 176720766 + Intron SNP A G G rs6872201 by1000genomes 2011-2288:2012-1331-T g.chr5:176720766A>G uc003mfr.3 + NSD1_uc003mft.3_Intron|NSD1_uc011dfx.1_Intron NM_022455 NP_071900 HLA-G 3135 broad.mit.edu 37 6 29910189 29910189 + Intron SNP A T T rs112660675 2011-2288:2012-1331-T g.chr6:29910189A>T uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'Flank|HLA-A_uc003nok.2_5'Flank|HLA-A_uc003nol.2_5'Flank|HLA-A_uc003non.2_5'Flank|HLA-A_uc003noo.2_5'Flank|HLA-A_uc010jrr.2_5'Flank|HLA-A_uc003nom.2_5'Flank|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank NM_002127 NP_002118 SLCO5A1 81796 broad.mit.edu 37 8 70585247 70585247 + Missense_Mutation SNP C T T 2011-2288:2012-1331-T g.chr8:70585247C>T uc003xyl.2 - 10 3111 c.2404G>A c.(2404-2406)GGA>AGA p.G802R SLCO5A1_uc010lzb.2_Missense_Mutation_p.G747R|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR NM_030958 NP_112220 EXD3 54932 broad.mit.edu 37 9 140288955 140288955 + Intron SNP C G G 2011-2288:2012-1331-T g.chr9:140288955C>G uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncg.1_Intron|EXD3_uc004cmr.2_Intron|EXD3_uc004cms.2_Intron|EXD3_uc004cmt.3_Intron NM_017820 NP_060290 FAAH2 158584 broad.mit.edu 37 X 57318907 57318907 + Intron SNP T A A rs4030473 by1000genomes 2011-2288:2012-1331-T g.chrX:57318907T>A uc004dvc.2 + NM_174912 NP_777572 GPR123 84435 broad.mit.edu 37 10 134893252 134893252 + Intron SNP C T T 2011-2289:2012-1332-T g.chr10:134893252C>T uc001llw.2 + GPR133 283383 broad.mit.edu 37 12 131613783 131613783 + Intron SNP G C C 2011-2289:2012-1332-T g.chr12:131613783G>C uc001uit.3 + GPR133_uc010tbm.1_Intron|GPR133_uc009zyo.2_Intron|GPR133_uc009zyp.2_Intron NM_198827 NP_942122 NRXN3 9369 broad.mit.edu 37 14 80312067 80312067 + Intron SNP G C C 2011-2289:2012-1332-T g.chr14:80312067G>C uc001xun.2 + NRXN3_uc001xum.1_Intron|NRXN3_uc001xup.2_Intron|NRXN3_uc001xuq.2_Intron|NRXN3_uc010asw.2_Intron|NRXN3_uc001xur.3_Intron NM_004796 NP_004787 HUWE1 10075 broad.mit.edu 37 X 53652117 53652117 + Splice_Site SNP C A A 2011-2289:2012-1332-T g.chrX:53652117C>A uc004dsp.2 - 18 1993 c.1591_splice c.e18+1 p.V531_splice NM_031407 NP_113584 MEGF6 1953 broad.mit.edu 37 1 3493264 3493264 + Intron SNP A T T rs2821056 by1000genomes 2011-2290:2012-1322-T g.chr1:3493264A>T uc001akl.2 - NM_001409 NP_001400 CDKN2C 1031 broad.mit.edu 37 1 51435650 51435650 + Intron SNP C T T rs3176453 by1000genomes 2011-2290:2012-1322-T g.chr1:51435650C>T uc001csf.2 + CDKN2C_uc001csg.2_5'UTR NM_001262 NP_001253 HIST2H2BE 8349 broad.mit.edu 37 1 149856908 149856908 + 3'UTR SNP A C C rs142503632 by1000genomes 2011-2290:2012-1322-T g.chr1:149856908A>C uc001etc.2 - 1 HIST2H2AC_uc001etd.2_5'Flank NM_003528 NP_003519 PTEN 5728 broad.mit.edu 37 10 89711893 89711893 + Nonsense_Mutation SNP C T T 2011-2290:2012-1322-T g.chr10:89711893C>T uc001kfb.2 + 7 1542 c.511C>T c.(511-513)CAG>TAG p.Q171* NM_000314 NP_000305 LRRC27 80313 broad.mit.edu 37 10 134172083 134172083 + Intron SNP C T T 2011-2290:2012-1322-T g.chr10:134172083C>T uc010quw.1 + LRRC27_uc001llg.2_Intron|LRRC27_uc001lli.2_Intron|LRRC27_uc001llj.2_Intron|LRRC27_uc001llk.3_Intron NM_030626 NP_085129 PTPN6 5777 broad.mit.edu 37 12 7069025 7069025 + Intron SNP G A A rs73262896 by1000genomes 2011-2290:2012-1322-T g.chr12:7069025G>A uc001qsb.2 + PTPN6_uc001qsa.1_Intron|PTPN6_uc010sfr.1_Intron|PTPN6_uc009zfl.1_Intron|PTPN6_uc010sfs.1_Intron NM_002831 NP_002822 PIK3C2G 5288 broad.mit.edu 37 12 18473881 18473881 + Intron SNP T G G rs34734874 by1000genomes 2011-2290:2012-1322-T g.chr12:18473881T>G uc001rdt.2 + PIK3C2G_uc010sia.1_Intron|PIK3C2G_uc010sib.1_Intron|PIK3C2G_uc010sic.1_Intron NM_004570 NP_004561 BRCA2 675 broad.mit.edu 37 13 32944741 32944741 + Intron SNP C T T rs11571744 by1000genomes 2011-2290:2012-1322-T g.chr13:32944741C>T uc001uub.1 + NM_000059 NP_000050 C13orf35 400165 broad.mit.edu 37 13 113299762 113299762 + 5'Flank SNP A G G 2011-2290:2012-1322-T g.chr13:113299762A>G uc001vsh.1 + NM_207440 NP_997323 TFDP1 7027 broad.mit.edu 37 13 114279860 114279860 + Intron SNP A C C 2011-2290:2012-1322-T g.chr13:114279860A>C uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 RASA3 22821 broad.mit.edu 37 13 114788856 114788856 + Intron SNP G A A rs34803962 by1000genomes 2011-2290:2012-1322-T g.chr13:114788856G>A uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron|RASA3_uc010aha.1_Intron NM_007368 NP_031394 NKX2-1 7080 broad.mit.edu 37 14 36989182 36989182 + 5'Flank SNP C T T 2011-2290:2012-1322-T g.chr14:36989182C>T uc001wtt.2 - SFTA3_uc001wts.2_5'Flank|NKX2-1_uc001wtu.2_Intron|NKX2-1_uc001wtv.2_Intron|uc001wtw.1_Intron NM_003317 NP_003308 SYNE2 23224 broad.mit.edu 37 14 64588957 64588957 + Intron SNP A C C rs10148304 by1000genomes 2011-2290:2012-1322-T g.chr14:64588957A>C uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc010apz.1_Intron NM_015180 NP_055995 NECAB2 54550 broad.mit.edu 37 16 84008604 84008604 + Intron SNP T G G 2011-2290:2012-1322-T g.chr16:84008604T>G uc002fhd.2 + NECAB2_uc002fhe.2_Intron NM_019065 NP_061938 FANCA 2175 broad.mit.edu 37 16 89849538 89849538 + Intron SNP C T T 2011-2290:2012-1322-T g.chr16:89849538C>T uc002fou.1 - FANCA_uc010vpn.1_Intron NM_000135 NP_000126 TP53 7157 broad.mit.edu 37 17 7577610 7577610 + Splice_Site SNP T C C 2011-2290:2012-1322-T g.chr17:7577610T>C uc002gim.2 - 7 867 c.673_splice c.e7-1 p.V225_splice TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.2_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron NM_001126112 NP_001119584 MED1 5469 broad.mit.edu 37 17 37564317 37564317 + Missense_Mutation SNP C G G rs149373125 byFrequency 2011-2290:2012-1322-T g.chr17:37564317C>G uc002hrv.3 - 17 4369 c.4157G>C c.(4156-4158)AGC>ACC p.S1386T MED1_uc010wee.1_Missense_Mutation_p.S1214T|MED1_uc002hru.2_Intron NM_004774 NP_004765 BRCA1 672 broad.mit.edu 37 17 41276493 41276493 + Intron SNP G A A rs141625477 by1000genomes 2011-2290:2012-1322-T g.chr17:41276493G>A uc002icq.2 - BRCA1_uc010whp.1_Intron|NBR2_uc002idf.2_5'Flank|NBR2_uc010czb.1_5'Flank|NBR2_uc002idg.2_5'Flank|NBR2_uc002idh.2_5'Flank|BRCA1_uc010whl.1_5'Flank|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Intron|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Intron|BRCA1_uc002ict.2_Intron|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_5'Flank|BRCA1_uc010cyy.1_Intron|BRCA1_uc010whs.1_Intron|BRCA1_uc010cyz.2_Intron|BRCA1_uc010cza.2_Intron|BRCA1_uc010wht.1_Intron NM_007294 NP_009225 C18orf22 79863 broad.mit.edu 37 18 77833629 77833629 + Intron SNP G A A 2011-2290:2012-1322-T g.chr18:77833629G>A uc010dri.1 + uc002lnu.2_Intron SPPL2B 56928 broad.mit.edu 37 19 2325517 2325517 + Intron SNP A G G rs73520540 by1000genomes 2011-2290:2012-1322-T g.chr19:2325517A>G uc010dsw.1 + LSM7_uc002lvp.3_Intron CRX 1406 broad.mit.edu 37 19 48326378 48326378 + Intron SNP C T T rs8112377 by1000genomes 2011-2290:2012-1322-T g.chr19:48326378C>T uc002phq.3 + CRX_uc010elm.1_Intron NM_000554 NP_000545 ABCA12 26154 broad.mit.edu 37 2 215928972 215928972 + Intron SNP G C C rs1523721 by1000genomes 2011-2290:2012-1322-T g.chr2:215928972G>C uc002vew.2 - ABCA12_uc010zjn.1_Intron NM_173076 NP_775099 PAK7 57144 broad.mit.edu 37 20 9524855 9524855 + Intron SNP T C C rs6056682 by1000genomes 2011-2290:2012-1322-T g.chr20:9524855T>C uc002wnl.2 - PAK7_uc002wnk.2_Intron|PAK7_uc002wnj.2_Intron|PAK7_uc010gby.1_Intron NM_020341 NP_065074 FHIT 2272 broad.mit.edu 37 3 60852495 60852495 + Intron SNP A T T rs72886300 by1000genomes 2011-2290:2012-1322-T g.chr3:60852495A>T uc003dkx.3 - FHIT_uc003dky.2_Intron|FHIT_uc010hnn.1_Intron NM_002012 NP_002003 DGKG 1608 broad.mit.edu 37 3 186024669 186024669 + Intron SNP T C C rs76296241 by1000genomes 2011-2290:2012-1322-T g.chr3:186024669T>C uc003fqa.2 - DGKG_uc003fqb.2_Intron|DGKG_uc003fqc.2_Intron|DGKG_uc011brx.1_Intron NM_001346 NP_001337 TFRC 7037 broad.mit.edu 37 3 195791168 195791169 + Intron DNP TT AA AA 2011-2290:2012-1322-T g.chr3:195791168_195791169TT>AA uc003fvz.3 - TFRC_uc003fwa.3_Intron|TFRC_uc010hzy.2_Intron|TFRC_uc011btr.1_Intron NM_003234 NP_003225 CDH10 1008 broad.mit.edu 37 5 24509570 24509570 + Intron SNP G A A 2011-2290:2012-1322-T g.chr5:24509570G>A uc003jgr.1 - CDH10_uc011cnu.1_Intron NM_006727 NP_006718 RIOK2 55781 broad.mit.edu 37 5 96514485 96514485 + Intron SNP T C C 2011-2290:2012-1322-T g.chr5:96514485T>C uc003kmz.2 - RIOK2_uc003kna.3_Intron NM_018343 NP_060813 HIST1H4E 8367 broad.mit.edu 37 6 26204669 26204669 + 5'Flank SNP G A A rs73736560 by1000genomes 2011-2290:2012-1322-T g.chr6:26204669G>A uc003ngy.2 + NM_003545 NP_003536 HLA-F 3134 broad.mit.edu 37 6 29691090 29691090 + 5'Flank SNP T A A rs1362125 by1000genomes 2011-2290:2012-1322-T g.chr6:29691090T>A uc010jrl.2 + HLA-F_uc003nnm.3_5'Flank|HLA-F_uc003nno.3_5'Flank|HLA-F_uc011dlx.1_5'Flank|HLA-F_uc011dly.1_5'Flank NM_018950 NP_061823 HLA-F 3134 broad.mit.edu 37 6 29692622 29692622 + Intron SNP C A A rs79329665 2011-2290:2012-1322-T g.chr6:29692622C>A uc010jrl.2 + HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Intron|HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron NM_018950 NP_061823 HLA-F 3134 broad.mit.edu 37 6 29692634 29692634 + Intron SNP T G G rs1736925 by1000genomes 2011-2290:2012-1322-T g.chr6:29692634T>G uc010jrl.2 + HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Intron|HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron NM_018950 NP_061823 HLA-G 3135 broad.mit.edu 37 6 29976499 29976499 + Intron SNP C G G rs75822147 2011-2290:2012-1322-T g.chr6:29976499C>G uc011dmb.1 + NCRNA00171_uc011dme.1_Intron|HLA-J_uc003nou.3_Intron|HLA-J_uc003rtl.3_Intron|HLA-J_uc003nov.3_Intron NM_002127 NP_002118 TAP1 6890 broad.mit.edu 37 6 32816998 32816998 + Intron SNP T C C rs12527715 by1000genomes 2011-2290:2012-1322-T g.chr6:32816998T>C uc003ocg.2 - TAP1_uc011dqi.1_Intron NM_000593 NP_000584 TAP1 6890 broad.mit.edu 37 6 32817008 32817008 + Intron SNP C T T rs56318279 2011-2290:2012-1322-T g.chr6:32817008C>T uc003ocg.2 - TAP1_uc011dqi.1_Intron NM_000593 NP_000584 NUP43 348995 broad.mit.edu 37 6 150067968 150067968 + 5'Flank SNP C A A rs9767608 by1000genomes 2011-2290:2012-1322-T g.chr6:150067968C>A uc003qmz.2 - PCMT1_uc003qna.2_5'Flank|PCMT1_uc003qnb.2_5'Flank|PCMT1_uc011eeg.1_5'Flank|PCMT1_uc003qnc.2_5'Flank|PCMT1_uc003qnd.2_5'Flank|PCMT1_uc003qne.2_5'Flank|PCMT1_uc003qnf.2_5'Flank|NUP43_uc011eee.1_5'Flank|NUP43_uc011eef.1_5'Flank NM_198887 NP_942590 FAM120B 84498 broad.mit.edu 37 6 170703629 170703629 + Intron SNP A G G rs60227559 2011-2290:2012-1322-T g.chr6:170703629A>G uc003qxp.2 + FAM120B_uc011ehd.1_Intron NM_032448 NP_115824 PRKAR1B 5575 broad.mit.edu 37 7 637880 637880 + Intron SNP C T T rs148552883 by1000genomes 2011-2290:2012-1322-T g.chr7:637880C>T uc003siu.1 - PRKAR1B_uc003siv.2_Intron|PRKAR1B_uc003siw.1_Intron|PRKAR1B_uc003six.1_Intron NM_002735 NP_002726 HEATR2 54919 broad.mit.edu 37 7 795831 795831 + Intron SNP C T T 2011-2290:2012-1322-T g.chr7:795831C>T uc010krz.1 + HEATR2_uc003siz.2_Intron NM_017802 NP_060272 ADCY8 114 broad.mit.edu 37 8 131797568 131797568 + Intron SNP G A A rs12546275 by1000genomes 2011-2290:2012-1322-T g.chr8:131797568G>A uc003ytd.3 - ADCY8_uc010mds.2_Intron NM_001115 NP_001106 POMT1 10585 broad.mit.edu 37 9 134387539 134387539 + Intron SNP G A A rs59515295 byFrequency;by1000genomes 2011-2290:2012-1322-T g.chr9:134387539G>A uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 COL5A1 1289 broad.mit.edu 37 9 137639758 137639758 + Intron SNP T C C 2011-2290:2012-1322-T g.chr9:137639758T>C uc004cfe.2 + NM_000093 NP_000084 OLFM1 10439 broad.mit.edu 37 9 138010249 138010249 + Intron SNP G T T rs113744581 by1000genomes 2011-2290:2012-1322-T g.chr9:138010249G>T uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfn.3_Intron NM_014279 NP_055094 NOTCH1 4851 broad.mit.edu 37 9 139395280 139395280 + Missense_Mutation SNP C A A 2011-2290:2012-1322-T g.chr9:139395280C>A uc004chz.2 - 31 5658 c.5658G>T c.(5656-5658)ATG>ATT p.M1886I NM_017617 NP_060087 C9orf86 55684 broad.mit.edu 37 9 139712026 139712026 + Intron SNP T A A rs62581428 by1000genomes 2011-2290:2012-1322-T g.chr9:139712026T>A uc004cji.1 + C9orf86_uc004cjm.2_Intron|C9orf86_uc004cjh.2_Intron|C9orf86_uc004cjj.1_Intron|C9orf86_uc004cjk.1_Intron|C9orf86_uc010nbr.1_Intron NM_024718 NP_078994 CACNA1B 774 broad.mit.edu 37 9 140817749 140817749 + Intron SNP A G G rs34141327 by1000genomes 2011-2290:2012-1322-T g.chr9:140817749A>G uc004cog.2 + NM_000718 NP_000709 ODZ1 10178 broad.mit.edu 37 X 123657279 123657279 + Missense_Mutation SNP G C C 2011-2290:2012-1322-T g.chrX:123657279G>C uc004euj.2 - 17 3032 c.2968C>G c.(2968-2970)CCT>GCT p.P990A ODZ1_uc011muj.1_Missense_Mutation_p.P989A|ODZ1_uc010nqy.2_Missense_Mutation_p.P990A NM_014253 NP_055068 NRAP 4892 broad.mit.edu 37 10 115423201 115423201 + Missense_Mutation SNP C A A 2011-2292:2012-324-T g.chr10:115423201C>A uc001laj.2 - 2 241 c.77G>T c.(76-78)TGG>TTG p.W26L NRAP_uc001lak.2_Missense_Mutation_p.W26L|NRAP_uc001lal.3_Missense_Mutation_p.W26L NM_198060 NP_932326 SHANK2 22941 broad.mit.edu 37 11 70385675 70385675 + Intron SNP C A A 2011-2292:2012-324-T g.chr11:70385675C>A uc001oqc.2 - SHANK2_uc010rqn.1_Intron|SHANK2_uc001opz.2_Intron|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Intron NM_012309 NP_036441 NUMA1 4926 broad.mit.edu 37 11 71720201 71720201 + Nonsense_Mutation SNP T A A 2011-2292:2012-324-T g.chr11:71720201T>A uc001orl.1 - 19 5042 c.4870A>T c.(4870-4872)AAG>TAG p.K1624* NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Nonsense_Mutation_p.K1173*|NUMA1_uc001ork.1_Nonsense_Mutation_p.K488*|NUMA1_uc001orm.1_Nonsense_Mutation_p.K1610*|NUMA1_uc001orn.2_Nonsense_Mutation_p.K1187* NM_006185 NP_006176 LRRK2 120892 broad.mit.edu 37 12 40714767 40714767 + Intron SNP A T T 2011-2292:2012-324-T g.chr12:40714767A>T uc001rmg.3 + LRRK2_uc009zjw.2_Intron|LRRK2_uc001rmi.2_Intron NM_198578 NP_940980 GPC5 2262 broad.mit.edu 37 13 92560492 92560492 + Intron SNP T C C 2011-2292:2012-324-T g.chr13:92560492T>C uc010tif.1 + NM_004466 NP_004457 F7 2155 broad.mit.edu 37 13 113761945 113761945 + Intron SNP A G G 2011-2292:2012-324-T g.chr13:113761945A>G uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 RASA3 22821 broad.mit.edu 37 13 114891456 114891456 + Intron SNP C T T 2011-2292:2012-324-T g.chr13:114891456C>T uc001vui.2 - RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron NM_007368 NP_031394 NRXN3 9369 broad.mit.edu 37 14 79723851 79723851 + Intron SNP G A A 2011-2292:2012-324-T g.chr14:79723851G>A uc001xun.2 + NRXN3_uc001xum.1_Intron NM_004796 NP_004787 NRXN3 9369 broad.mit.edu 37 14 80312050 80312050 + Intron SNP G A A 2011-2292:2012-324-T g.chr14:80312050G>A uc001xun.2 + NRXN3_uc001xum.1_Intron|NRXN3_uc001xup.2_Intron|NRXN3_uc001xuq.2_Intron|NRXN3_uc010asw.2_Intron|NRXN3_uc001xur.3_Intron NM_004796 NP_004787 TC2N 123036 broad.mit.edu 37 14 92280090 92280090 + Silent SNP A G G 2011-2292:2012-324-T g.chr14:92280090A>G uc001xzu.3 - 2 215 c.24T>C c.(22-24)AGT>AGC p.S8S TC2N_uc001xzt.3_Silent_p.S8S|TC2N_uc010auc.2_Silent_p.S8S|TC2N_uc001xzv.3_Silent_p.S8S NM_001128595 NP_001122067 UBE3A 7337 broad.mit.edu 37 15 25651081 25651081 + Intron SNP G T T 2011-2292:2012-324-T g.chr15:25651081G>T uc001zaq.2 - UBE3A_uc001zar.2_Intron|UBE3A_uc001zas.2_Intron|UBE3A_uc001zat.2_Intron|UBE3A_uc001zau.1_Intron NM_000462 NP_000453 LMF1 64788 broad.mit.edu 37 16 909218 909218 + Intron SNP G A A 2011-2292:2012-324-T g.chr16:909218G>A uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 1000657 1000657 + Intron SNP C T T 2011-2292:2012-324-T g.chr16:1000657C>T uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 TP53 7157 broad.mit.edu 37 17 7577518 7577518 + Missense_Mutation SNP T A A 2011-2292:2012-324-T g.chr17:7577518T>A uc002gim.2 - 7 957 c.763A>T c.(763-765)ATC>TTC p.I255F TP53_uc002gig.1_Missense_Mutation_p.I255F|TP53_uc002gih.2_Missense_Mutation_p.I255F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I123F|TP53_uc010cng.1_Missense_Mutation_p.I123F|TP53_uc002gii.1_Missense_Mutation_p.I123F|TP53_uc010cnh.1_Missense_Mutation_p.I255F|TP53_uc010cni.1_Missense_Mutation_p.I255F|TP53_uc002gij.2_Missense_Mutation_p.I255F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.I162F|TP53_uc002gio.2_Missense_Mutation_p.I123F NM_001126112 NP_001119584 TBC1D3 729873 broad.mit.edu 37 17 36349314 36349314 + Intron SNP G A A rs62072924 2011-2292:2012-324-T g.chr17:36349314G>A uc002hpr.2 - TBC1D3_uc010wdl.1_5'Flank|TBC1D3_uc002hox.2_5'Flank|TBC1D3_uc010wdm.1_5'Flank|TBC1D3_uc002hpq.2_5'Flank|TBC1D3_uc010cvj.1_5'Flank|TBC1D3_uc010cvk.2_Intron|TBC1D3_uc002hpp.2_5'Flank|TBC1D3_uc010wdn.1_Intron NM_001123391 NP_001116863 STAT3 6774 broad.mit.edu 37 17 40490479 40490479 + Intron SNP G T T 2011-2292:2012-324-T g.chr17:40490479G>T uc002hzl.1 - STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron NM_139276 NP_644805 RAD51C 5889 broad.mit.edu 37 17 56780838 56780838 + Intron SNP A G G 2011-2292:2012-324-T g.chr17:56780838A>G uc002iwu.2 + RAD51C_uc010woa.1_Intron|RAD51C_uc010ddc.2_Intron|RAD51C_uc002iwv.2_Intron|RAD51C_uc002iww.2_Intron NM_058216 NP_478123 ABCA6 23460 broad.mit.edu 37 17 67138138 67138138 + 5'Flank SNP C T T rs3744489 by1000genomes 2011-2292:2012-324-T g.chr17:67138138C>T uc002jhw.1 - ABCA6_uc002jhy.2_5'Flank NM_080284 NP_525023 ZNF345 25850 broad.mit.edu 37 19 37341847 37341847 + Intron SNP G A A 2011-2292:2012-324-T g.chr19:37341847G>A uc002oex.2 + ZNF345_uc002oey.3_5'UTR|ZNF345_uc002oez.2_RNA NM_003419 NP_003410 RMND5A 64795 broad.mit.edu 37 2 87644175 87644175 + Intron SNP C G G 2011-2292:2012-324-T g.chr2:87644175C>G uc002srs.3 + BAGE2 85319 broad.mit.edu 37 21 11058310 11058310 + Missense_Mutation SNP C A A 2011-2292:2012-324-T g.chr21:11058310C>A uc002yit.1 - 3 338 c.130G>T c.(130-132)GTA>TTA p.V44L BAGE_uc002yiw.1_RNA NM_182482 NP_872288 PTTG1IP 754 broad.mit.edu 37 21 46283065 46283065 + Intron SNP C G G 2011-2292:2012-324-T g.chr21:46283065C>G uc002zgb.1 - PTTG1IP_uc011afj.1_Intron|PTTG1IP_uc011afk.1_Intron NM_004339 NP_004330 XRCC6 2547 broad.mit.edu 37 22 42046748 42046748 + Missense_Mutation SNP A G G 2011-2292:2012-324-T g.chr22:42046748A>G uc003bao.1 + 8 1052 c.982A>G c.(982-984)ATA>GTA p.I328V XRCC6_uc003bap.1_Missense_Mutation_p.I287V|XRCC6_uc011apc.1_Missense_Mutation_p.I278V|XRCC6_uc003baq.1_Missense_Mutation_p.I328V|XRCC6_uc003bar.1_Missense_Mutation_p.I328V|XRCC6_uc003bas.1_Missense_Mutation_p.I278V NM_001469 NP_001460 DPPA4 55211 broad.mit.edu 37 3 109047696 109047696 + Intron SNP G A A 2011-2292:2012-324-T g.chr3:109047696G>A uc003dxq.3 - DPPA4_uc011bho.1_Intron NM_018189 NP_060659 C4orf22 255119 broad.mit.edu 37 4 81850602 81850602 + Intron SNP C G G 2011-2292:2012-324-T g.chr4:81850602C>G uc003hmf.2 + C4orf22_uc010ijp.2_Intron NM_152770 NP_689983 ADAMTS12 81792 broad.mit.edu 37 5 33881323 33881323 + Silent SNP C T T 2011-2292:2012-324-T g.chr5:33881323C>T uc003jia.1 - 2 553 c.390G>A c.(388-390)AAG>AAA p.K130K ADAMTS12_uc010iuq.1_Silent_p.K130K|ADAMTS12_uc003jib.1_Silent_p.K130K NM_030955 NP_112217 IL6ST 3572 broad.mit.edu 37 5 55246101 55246101 + Intron SNP A C C 2011-2292:2012-324-T g.chr5:55246101A>C uc003jqq.2 - IL6ST_uc010iwb.2_Intron|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Intron|IL6ST_uc003jqr.2_Intron|IL6ST_uc010iwe.1_Intron NM_002184 NP_002175 EPHA7 2045 broad.mit.edu 37 6 93954972 93954972 + Intron SNP T C C rs72039284 2011-2292:2012-324-T g.chr6:93954972T>C uc003poe.2 - EPHA7_uc003pof.2_Intron|EPHA7_uc011eac.1_Intron NM_004440 NP_004431 COQ3 51805 broad.mit.edu 37 6 99817598 99817598 + Missense_Mutation SNP C T T 2011-2292:2012-324-T g.chr6:99817598C>T uc003ppk.2 - 7 1015 c.988G>A c.(988-990)GCT>ACT p.A330T NM_017421 NP_059117 SYNE1 23345 broad.mit.edu 37 6 152501316 152501316 + Missense_Mutation SNP C G G 2011-2292:2012-324-T g.chr6:152501316C>G uc010kiw.2 - 129 24017 c.23415G>C c.(23413-23415)CAG>CAC p.Q7805H SYNE1_uc010kiv.2_Missense_Mutation_p.Q2329H|SYNE1_uc003qos.3_Missense_Mutation_p.Q2329H|SYNE1_uc003qot.3_Missense_Mutation_p.Q7734H|SYNE1_uc003qou.3_Missense_Mutation_p.Q7805H|SYNE1_uc003qop.3_5'Flank|SYNE1_uc011eez.1_Missense_Mutation_p.Q7H|SYNE1_uc003qoq.3_Missense_Mutation_p.Q7H|SYNE1_uc003qor.3_Missense_Mutation_p.Q705H NM_182961 NP_892006 MLL3 58508 broad.mit.edu 37 7 151970939 151970939 + Missense_Mutation SNP C A A 2011-2292:2012-324-T g.chr7:151970939C>A uc003wla.2 - 7 1082 c.863G>T c.(862-864)TGT>TTT p.C288F NM_170606 NP_733751 WRN 7486 broad.mit.edu 37 8 30954258 30954258 + Intron SNP C T T 2011-2292:2012-324-T g.chr8:30954258C>T uc003xio.3 + WRN_uc010lvk.2_Intron NM_000553 NP_000544 UBR5 51366 broad.mit.edu 37 8 103307065 103307065 + Intron SNP C G G 2011-2292:2012-324-T g.chr8:103307065C>G uc003ykr.1 - UBR5_uc003yks.1_Intron NM_015902 NP_056986 ADCK5 203054 broad.mit.edu 37 8 145596577 145596577 + 5'Flank SNP C T T 2011-2292:2012-324-T g.chr8:145596577C>T uc003zch.2 + ADCK5_uc003zcg.2_5'Flank NM_174922 NP_777582 NOTCH1 4851 broad.mit.edu 37 9 139417370 139417370 + Nonsense_Mutation SNP G T T 2011-2292:2012-324-T g.chr9:139417370G>T uc004chz.2 - 4 674 c.674C>A c.(673-675)TCG>TAG p.S225* NM_017617 NP_060087 KIF1B 23095 broad.mit.edu 37 1 10328338 10328338 + Intron SNP C T T rs1339458 by1000genomes 2011-2293:2012-1333-T g.chr1:10328338C>T uc001aqx.3 + KIF1B_uc001aqv.3_Intron|KIF1B_uc001aqw.3_Intron|KIF1B_uc001aqy.2_Intron|KIF1B_uc001aqz.2_Intron|KIF1B_uc001ara.2_Intron|KIF1B_uc001arb.2_Intron|KIF1B_uc009vmt.2_Intron NM_015074 NP_055889 MACF1 23499 broad.mit.edu 37 1 39889677 39889677 + Intron SNP G A A rs663892 by1000genomes 2011-2293:2012-1333-T g.chr1:39889677G>A uc010oiu.1 + MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron NM_033044 NP_149033 MDM4 4194 broad.mit.edu 37 1 204512100 204512100 + Intron SNP T C C rs4252717 by1000genomes 2011-2293:2012-1333-T g.chr1:204512100T>C uc001hba.2 + MDM4_uc001hbd.1_Intron|MDM4_uc010pqw.1_Intron|MDM4_uc010pqx.1_Intron|MDM4_uc001hay.1_Intron|MDM4_uc001hbb.2_Intron|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_Intron|MDM4_uc009xbe.1_Intron NM_002393 NP_002384 BRSK2 9024 broad.mit.edu 37 11 1416034 1416034 + Intron SNP C A A 2011-2293:2012-1333-T g.chr11:1416034C>A uc001lti.2 + BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001ltj.2_Intron|BRSK2_uc001ltk.2_Intron|BRSK2_uc001ltl.2_Intron NM_003957 NP_003948 PIK3C2G 5288 broad.mit.edu 37 12 18491381 18491381 + Missense_Mutation SNP G A A 2011-2293:2012-1333-T g.chr12:18491381G>A uc001rdt.2 + 9 1410 c.1294G>A c.(1294-1296)GAA>AAA p.E432K PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.E432K|PIK3C2G_uc010sic.1_Missense_Mutation_p.E210K NM_004570 NP_004561 H3F3C 440093 broad.mit.edu 37 12 31944475 31944475 + 3'UTR SNP C T T rs11051595 by1000genomes 2011-2293:2012-1333-T g.chr12:31944475C>T uc001rkr.2 - 1 NM_001013699 NP_001013721 NAV3 89795 broad.mit.edu 37 12 78513699 78513699 + Silent SNP A G G 2011-2293:2012-1333-T g.chr12:78513699A>G uc001syp.2 + 15 3896 c.3723A>G c.(3721-3723)CCA>CCG p.P1241P NAV3_uc001syo.2_Silent_p.P1241P|NAV3_uc010sub.1_Silent_p.P741P|NAV3_uc009zsf.2_Silent_p.P249P NM_014903 NP_055718 CDADC1 81602 broad.mit.edu 37 13 49866322 49866322 + 3'UTR SNP C T T rs9535193 by1000genomes 2011-2293:2012-1333-T g.chr13:49866322C>T uc001vcu.2 + 10 CDADC1_uc010tgk.1_3'UTR|CDADC1_uc001vcv.2_RNA NM_030911 NP_112173 TPP2 7174 broad.mit.edu 37 13 103328619 103328619 + Intron SNP C A A rs584710 by1000genomes 2011-2293:2012-1333-T g.chr13:103328619C>A uc001vpi.3 + NM_003291 NP_003282 PROZ 8858 broad.mit.edu 37 13 113816515 113816515 + Intron SNP G C C 2011-2293:2012-1333-T g.chr13:113816515G>C uc001vta.1 + PROZ_uc010agr.1_Intron NM_003891 NP_003882 NRXN3 9369 broad.mit.edu 37 14 78870008 78870008 + 5'Flank SNP G C C 2011-2293:2012-1333-T g.chr14:78870008G>C uc001xun.2 + NRXN3_uc001xum.1_Intron NM_004796 NP_004787 AKT1 207 broad.mit.edu 37 14 105259706 105259706 + 5'UTR SNP C T T rs10138227 byFrequency;by1000genomes 2011-2293:2012-1333-T g.chr14:105259706C>T uc001ypk.2 - 1 INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_5'UTR|AKT1_uc010axa.2_Intron|AKT1_uc001ypm.2_Intron|AKT1_uc001ypn.2_Intron NM_005163 NP_005154 ERN2 10595 broad.mit.edu 37 16 23702608 23702608 + Intron SNP G C C 2011-2293:2012-1333-T g.chr16:23702608G>C uc002dma.3 - ERN2_uc010bxp.2_Intron NM_033266 NP_150296 RPH3AL 9501 broad.mit.edu 37 17 190631 190631 + Intron SNP C T T 2011-2293:2012-1333-T g.chr17:190631C>T uc002fre.1 - RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C T T rs11540652 2011-2293:2012-1333-T g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 TP53 7157 broad.mit.edu 37 17 7579312 7579312 + Silent SNP C A A rs55863639 2011-2293:2012-1333-T g.chr17:7579312C>A uc002gim.2 - 4 569 c.375G>T c.(373-375)ACG>ACT p.T125T TP53_uc002gig.1_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T NM_001126112 NP_001119584 NCOR1 9611 broad.mit.edu 37 17 15938208 15938208 + Missense_Mutation SNP T G G 2011-2293:2012-1333-T g.chr17:15938208T>G uc002gpo.2 - 45 7246 c.7006A>C c.(7006-7008)AAG>CAG p.K2336Q NCOR1_uc002gpn.2_Missense_Mutation_p.K2233Q|NCOR1_uc002gpl.2_Missense_Mutation_p.K350Q|NCOR1_uc002gpm.2_Missense_Mutation_p.K855Q|NCOR1_uc010vwb.1_Missense_Mutation_p.K920Q|NCOR1_uc010coy.2_Missense_Mutation_p.K1244Q NM_006311 NP_006302 ABCA6 23460 broad.mit.edu 37 17 67099129 67099129 + Intron SNP A G G rs2364315 by1000genomes 2011-2293:2012-1333-T g.chr17:67099129A>G uc002jhw.1 - NM_080284 NP_525023 TBC1D16 125058 broad.mit.edu 37 17 77998354 77998354 + Intron SNP A G G 2011-2293:2012-1333-T g.chr17:77998354A>G uc002jxj.2 - NM_019020 NP_061893 PIK3C3 5289 broad.mit.edu 37 18 39534825 39534825 + 5'Flank SNP C T T rs3813065 by1000genomes 2011-2293:2012-1333-T g.chr18:39534825C>T uc002lap.2 + PIK3C3_uc010xcl.1_5'Flank|PIK3C3_uc002lao.2_5'Flank NM_002647 NP_002638 DOK6 220164 broad.mit.edu 37 18 67365585 67365585 + Intron SNP A G G rs4581806 by1000genomes 2011-2293:2012-1333-T g.chr18:67365585A>G uc002lkl.2 + NM_152721 NP_689934 LMNB2 84823 broad.mit.edu 37 19 2452971 2452971 + Intron SNP A C C rs12972223 by1000genomes 2011-2293:2012-1333-T g.chr19:2452971A>C uc002lvy.2 - LMNB2_uc002lwa.1_Intron NM_032737 NP_116126 NOTCH3 4854 broad.mit.edu 37 19 15272526 15272526 + Intron SNP C A A 2011-2293:2012-1333-T g.chr19:15272526C>A uc002nan.2 - NM_000435 NP_000426 TTN 7273 broad.mit.edu 37 2 179469997 179469997 + Silent SNP C G G 2011-2293:2012-1333-T g.chr2:179469997C>G uc010zfg.1 - 229 46427 c.46203G>C c.(46201-46203)CTG>CTC p.L15401L uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L9096L|TTN_uc010zfi.1_Silent_p.L9029L|TTN_uc010zfj.1_Silent_p.L8904L NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179587687 179587687 + Intron SNP T C C rs2742327 by1000genomes 2011-2293:2012-1333-T g.chr2:179587687T>C uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179603080 179603080 + Silent SNP T A A 2011-2293:2012-1333-T g.chr2:179603080T>A uc010zfg.1 - 46 10592 c.10368A>T c.(10366-10368)CCA>CCT p.P3456P TTN_uc010zfh.1_Silent_p.P4529P|TTN_uc010zfi.1_Silent_p.P4462P|TTN_uc010zfj.1_Silent_p.P4337P|TTN_uc002umz.1_Silent_p.P117P NM_133378 NP_596869 STAT1 6772 broad.mit.edu 37 2 191839976 191839976 + Intron SNP C T T rs1914408 byFrequency;by1000genomes 2011-2293:2012-1333-T g.chr2:191839976C>T uc002usj.2 - STAT1_uc010fse.1_Intron NM_007315 NP_009330 ABCA12 26154 broad.mit.edu 37 2 215872522 215872522 + Missense_Mutation SNP C T T 2011-2293:2012-1333-T g.chr2:215872522C>T uc002vew.2 - 19 2741 c.2521G>A c.(2521-2523)GAG>AAG p.E841K ABCA12_uc002vev.2_Missense_Mutation_p.E523K|ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 TAF4 6874 broad.mit.edu 37 20 60553687 60553687 + Intron SNP A G G rs79482470 by1000genomes 2011-2293:2012-1333-T g.chr20:60553687A>G uc002ybs.2 - NM_003185 NP_003176 MYT1 4661 broad.mit.edu 37 20 62833270 62833270 + Intron SNP C T T rs75939601 by1000genomes 2011-2293:2012-1333-T g.chr20:62833270C>T uc002yii.2 + MYT1_uc002yih.2_Intron NM_004535 NP_004526 MYH9 4627 broad.mit.edu 37 22 36716930 36716930 + Nonsense_Mutation SNP T A A 2011-2293:2012-1333-T g.chr22:36716930T>A uc003apg.2 - 8 1012 c.781A>T c.(781-783)AAA>TAA p.K261* MYH9_uc003aph.1_Nonsense_Mutation_p.K125* NM_002473 NP_002464 MLC1 23209 broad.mit.edu 37 22 50500662 50500662 + Intron SNP C G G 2011-2293:2012-1333-T g.chr22:50500662C>G uc003bjg.1 - MLC1_uc011arl.1_Intron|MLC1_uc003bjh.1_Intron|MLC1_uc011arm.1_Intron|MLC1_uc011arn.1_Intron|MLC1_uc011aro.1_Intron NM_139202 NP_631941 PRKCD 5580 broad.mit.edu 37 3 53215875 53215875 + Intron SNP A C C rs11130350 by1000genomes 2011-2293:2012-1333-T g.chr3:53215875A>C uc003dgl.2 + PRKCD_uc003dgm.2_Intron|PRKCD_uc003dgn.2_Missense_Mutation_p.D233A|PRKCD_uc010hmt.1_5'Flank NM_006254 NP_006245 EPHA3 2042 broad.mit.edu 37 3 89156519 89156519 + 5'Flank SNP C T T rs13074291 by1000genomes 2011-2293:2012-1333-T g.chr3:89156519C>T uc003dqy.2 + EPHA3_uc003dqx.1_5'Flank|EPHA3_uc010hon.1_5'Flank NM_005233 NP_005224 EPHA3 2042 broad.mit.edu 37 3 89259031 89259031 + Missense_Mutation SNP G T T 2011-2293:2012-1333-T g.chr3:89259031G>T uc003dqy.2 + 3 400 c.175G>T c.(175-177)GAT>TAT p.D59Y EPHA3_uc003dqx.1_Missense_Mutation_p.D59Y|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 BBX 56987 broad.mit.edu 37 3 107493738 107493738 + Intron SNP A T T 2011-2293:2012-1333-T g.chr3:107493738A>T uc010hpr.2 + BBX_uc003dwk.3_Intron|BBX_uc003dwl.3_Intron|BBX_uc003dwm.3_Intron|BBX_uc003dwo.3_Intron NM_001142568 NP_001136040 SLITRK3 22865 broad.mit.edu 37 3 164907029 164907029 + Silent SNP G T T 2011-2293:2012-1333-T g.chr3:164907029G>T uc003fej.3 - 2 2034 c.1590C>A c.(1588-1590)GCC>GCA p.A530A SLITRK3_uc003fek.2_Silent_p.A530A NM_014926 NP_055741 MECOM 2122 broad.mit.edu 37 3 169099123 169099123 + Missense_Mutation SNP A T T 2011-2293:2012-1333-T g.chr3:169099123A>T uc011bpj.1 - 2 630 c.227T>A c.(226-228)ATT>AAT p.I76N MECOM_uc003ffl.2_Missense_Mutation_p.I48N|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.I76N|MECOM_uc011bpl.1_Missense_Mutation_p.I76N NM_004991 NP_004982 GABRA4 2557 broad.mit.edu 37 4 46973233 46973233 + Silent SNP C T T 2011-2293:2012-1333-T g.chr4:46973233C>T uc003gxg.2 - 7 880 c.741G>A c.(739-741)ACG>ACA p.T247T NM_000809 NP_000800 INPP4B 8821 broad.mit.edu 37 4 143383850 143383850 + 5'UTR SNP T C C 2011-2293:2012-1333-T g.chr4:143383850T>C uc003iix.3 - 4 INPP4B_uc003iiw.3_5'UTR|INPP4B_uc011cho.1_RNA|INPP4B_uc003iiz.2_RNA NM_003866 NP_003857 FBXW7 55294 broad.mit.edu 37 4 153245374 153245374 + Missense_Mutation SNP C A A 2011-2293:2012-1333-T g.chr4:153245374C>A uc003ims.2 - 11 1966 c.1817G>T c.(1816-1818)TGG>TTG p.W606L FBXW7_uc011cii.1_Missense_Mutation_p.W606L|FBXW7_uc003imt.2_Missense_Mutation_p.W606L|FBXW7_uc011cih.1_Missense_Mutation_p.W430L|FBXW7_uc003imq.2_Missense_Mutation_p.W526L|FBXW7_uc003imr.2_Missense_Mutation_p.W488L NM_033632 NP_361014 CDH10 1008 broad.mit.edu 37 5 24645257 24645257 + 5'Flank SNP A T T rs79959666 by1000genomes 2011-2293:2012-1333-T g.chr5:24645257A>T uc003jgr.1 - CDH10_uc011cnu.1_5'Flank NM_006727 NP_006718 CDH9 1007 broad.mit.edu 37 5 26890584 26890584 + Missense_Mutation SNP C A A 2011-2293:2012-1333-T g.chr5:26890584C>A uc003jgs.1 - 8 1512 c.1343G>T c.(1342-1344)CGG>CTG p.R448L CDH9_uc011cnv.1_Missense_Mutation_p.R41L NM_016279 NP_057363 HLA-G 3135 broad.mit.edu 37 6 29798419 29798419 + Intron SNP G A A rs114465251 byFrequency;by1000genomes 2011-2293:2012-1333-T g.chr6:29798419G>A uc003nnw.2 + HLA-G_uc011dmb.1_Intron|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_Intron NM_002127 NP_002118 ROS1 6098 broad.mit.edu 37 6 117737479 117737479 + Missense_Mutation SNP C T T 2011-2293:2012-1333-T g.chr6:117737479C>T uc003pxp.1 - 3 369 c.170G>A c.(169-171)TGT>TAT p.C57Y ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 SYNE1 23345 broad.mit.edu 37 6 152461061 152461061 + Intron SNP G A A rs3818110 by1000genomes 2011-2293:2012-1333-T g.chr6:152461061G>A uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qop.3_Intron|SYNE1_uc011eez.1_Intron|SYNE1_uc003qoq.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152546997 152546997 + Missense_Mutation SNP C A A 2011-2293:2012-1333-T g.chr6:152546997C>A uc010kiw.2 - 116 21812 c.21210G>T c.(21208-21210)TTG>TTT p.L7070F SYNE1_uc010kiv.2_Missense_Mutation_p.L1594F|SYNE1_uc003qos.3_Missense_Mutation_p.L1594F|SYNE1_uc003qot.3_Missense_Mutation_p.L6999F|SYNE1_uc003qou.3_Missense_Mutation_p.L7070F|SYNE1_uc003qor.3_5'UTR NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152716612 152716612 + Intron SNP G T T 2011-2293:2012-1333-T g.chr6:152716612G>T uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152762246 152762246 + Intron SNP C A A 2011-2293:2012-1333-T g.chr6:152762246C>A uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qow.2_Intron|SYNE1_uc003qox.1_Intron NM_182961 NP_892006 PRKAR1B 5575 broad.mit.edu 37 7 675589 675589 + Intron SNP C A A 2011-2293:2012-1333-T g.chr7:675589C>A uc003siu.1 - PRKAR1B_uc003siv.2_Intron|PRKAR1B_uc003siw.1_Intron NM_002735 NP_002726 BBS9 27241 broad.mit.edu 37 7 33217023 33217023 + Intron SNP G T T 2011-2293:2012-1333-T g.chr7:33217023G>T uc003tdn.1 + BBS9_uc003tdo.1_Intron|BBS9_uc003tdp.1_Intron|BBS9_uc003tdq.1_Intron|BBS9_uc010kwn.1_Intron|BBS9_uc011kan.1_Intron|BBS9_uc011kao.1_Intron NM_198428 NP_940820 WBSCR17 64409 broad.mit.edu 37 7 71134961 71134961 + Missense_Mutation SNP C T T 2011-2293:2012-1333-T g.chr7:71134961C>T uc003tvy.2 + 8 1271 c.1271C>T c.(1270-1272)CCG>CTG p.P424L WBSCR17_uc003tvz.2_Missense_Mutation_p.P123L NM_022479 NP_071924 GRM8 2918 broad.mit.edu 37 7 126173762 126173762 + Silent SNP C A A 2011-2293:2012-1333-T g.chr7:126173762C>A uc003vlr.2 - 8 1985 c.1674G>T c.(1672-1674)CTG>CTT p.L558L GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.L558L|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 EZH2 2146 broad.mit.edu 37 7 148508833 148508833 + Intron SNP A G G rs2072407 by1000genomes 2011-2293:2012-1333-T g.chr7:148508833A>G uc003wfd.1 - EZH2_uc011kug.1_Intron|EZH2_uc003wfb.1_Intron|EZH2_uc003wfc.1_Intron|EZH2_uc011kuh.1_Intron NM_004456 NP_004447 PTPRN2 5799 broad.mit.edu 37 7 158278120 158278120 + Intron SNP C A A 2011-2293:2012-1333-T g.chr7:158278120C>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158295535 158295535 + Intron SNP G A A 2011-2293:2012-1333-T g.chr7:158295535G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158295537 158295537 + Intron SNP C T T 2011-2293:2012-1333-T g.chr7:158295537C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PCM1 5108 broad.mit.edu 37 8 17871563 17871563 + Intron SNP G C C rs73666809 by1000genomes 2011-2293:2012-1333-T g.chr8:17871563G>C uc003wyi.3 + PCM1_uc011kyh.1_Intron|PCM1_uc003wyj.3_Intron|PCM1_uc011kyi.1_Intron|PCM1_uc011kyj.1_Intron|PCM1_uc003wyk.3_Intron|PCM1_uc011kyk.1_Intron NM_006197 NP_006188 FGFR1 2260 broad.mit.edu 37 8 38279396 38279396 + Missense_Mutation SNP C G G 2011-2293:2012-1333-T g.chr8:38279396C>G uc003xlp.2 - 8 1942 c.1000G>C c.(1000-1002)GAG>CAG p.E334Q FGFR1_uc011lbo.1_Missense_Mutation_p.E332Q|FGFR1_uc011lbp.1_Missense_Mutation_p.E245Q|FGFR1_uc011lbq.1_Missense_Mutation_p.E243Q|FGFR1_uc010lwk.2_Missense_Mutation_p.E326Q|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.E174Q|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Missense_Mutation_p.E365Q|FGFR1_uc011lbv.1_Missense_Mutation_p.E332Q|FGFR1_uc011lbw.1_Missense_Mutation_p.E245Q|FGFR1_uc011lbx.1_Missense_Mutation_p.E245Q NM_023110 NP_075598 RB1CC1 9821 broad.mit.edu 37 8 53596267 53596267 + Missense_Mutation SNP T A A 2011-2293:2012-1333-T g.chr8:53596267T>A uc003xre.3 - 5 769 c.211A>T c.(211-213)ATT>TTT p.I71F RB1CC1_uc003xrf.3_Missense_Mutation_p.I71F NM_014781 NP_055596 ZFHX4 79776 broad.mit.edu 37 8 77766311 77766311 + Missense_Mutation SNP C A A 2011-2293:2012-1333-T g.chr8:77766311C>A uc003yav.2 + 10 7406 c.7019C>A c.(7018-7020)TCT>TAT p.S2340Y ZFHX4_uc003yau.1_Missense_Mutation_p.S2385Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S2340Y NM_024721 NP_078997 CSMD3 114788 broad.mit.edu 37 8 113347650 113347650 + Missense_Mutation SNP G T T 2011-2293:2012-1333-T g.chr8:113347650G>T uc003ynu.2 - 45 7232 c.7073C>A c.(7072-7074)GCT>GAT p.A2358D CSMD3_uc003yns.2_Missense_Mutation_p.A1560D|CSMD3_uc003ynt.2_Missense_Mutation_p.A2318D|CSMD3_uc011lhx.1_Missense_Mutation_p.A2254D|CSMD3_uc003ynw.1_Missense_Mutation_p.A69D NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113516073 113516073 + Missense_Mutation SNP C T T 2011-2293:2012-1333-T g.chr8:113516073C>T uc003ynu.2 - 30 5188 c.5029G>A c.(5029-5031)GCT>ACT p.A1677T CSMD3_uc003yns.2_Missense_Mutation_p.A949T|CSMD3_uc003ynt.2_Missense_Mutation_p.A1637T|CSMD3_uc011lhx.1_Missense_Mutation_p.A1573T NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113585637 113585637 + Intron SNP A G G rs7014796 by1000genomes 2011-2293:2012-1333-T g.chr8:113585637A>G uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CDKN2A 1029 broad.mit.edu 37 9 21974730 21974730 + Nonsense_Mutation SNP C A A 2011-2293:2012-1333-T g.chr9:21974730C>A uc003zpk.2 - 1 309 c.97G>T c.(97-99)GAG>TAG p.E33* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Nonsense_Mutation_p.E33*|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 GNAQ 2776 broad.mit.edu 37 9 80409345 80409345 + Intron SNP A G G rs1328529 by1000genomes 2011-2293:2012-1333-T g.chr9:80409345A>G uc004akw.2 - GNAQ_uc011lso.1_Intron NM_002072 NP_002063 QSOX2 169714 broad.mit.edu 37 9 139129544 139129544 + Intron SNP C T T rs113408184 by1000genomes 2011-2293:2012-1333-T g.chr9:139129544C>T uc010nbi.2 - NM_181701 NP_859052 NOTCH1 4851 broad.mit.edu 37 9 139403268 139403268 + Intron SNP T C C rs3125000 by1000genomes 2011-2293:2012-1333-T g.chr9:139403268T>C uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 IRF6 3664 broad.mit.edu 37 1 209965533 209965533 + Intron SNP G C C 2011-2297:2012-323-T g.chr1:209965533G>C uc001hhq.1 - IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Intron NM_006147 NP_006138 IRF6 3664 broad.mit.edu 37 1 209969714 209969714 + Nonsense_Mutation SNP G A A 2011-2297:2012-323-T g.chr1:209969714G>A uc001hhq.1 - 4 621 c.358C>T c.(358-360)CAG>TAG p.Q120* IRF6_uc010psm.1_Nonsense_Mutation_p.Q25*|IRF6_uc009xct.1_Nonsense_Mutation_p.Q120* NM_006147 NP_006138 PIK3C2A 5286 broad.mit.edu 37 11 17191720 17191720 + 5'Flank SNP T G G 2011-2297:2012-323-T g.chr11:17191720T>G uc001mmq.3 - PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Intron|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Intron|PIK3C2A_uc009ygv.1_Intron NM_002645 NP_002636 OR4C15 81309 broad.mit.edu 37 11 55322817 55322817 + Missense_Mutation SNP G C C 2011-2297:2012-323-T g.chr11:55322817G>C uc010rig.1 + 1 1035 c.1035G>C c.(1033-1035)AAG>AAC p.K345N NM_001001920 NP_001001920 PZP 5858 broad.mit.edu 37 12 9353577 9353577 + Missense_Mutation SNP G A A 2011-2297:2012-323-T g.chr12:9353577G>A uc001qvl.2 - 6 610 c.581C>T c.(580-582)TCA>TTA p.S194L PZP_uc009zgl.2_Missense_Mutation_p.S63L NM_002864 NP_002855 SYNE2 23224 broad.mit.edu 37 14 64599307 64599307 + Intron SNP G C C 2011-2297:2012-323-T g.chr14:64599307G>C uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc010apz.1_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64655662 64655662 + Intron SNP C T T 2011-2297:2012-323-T g.chr14:64655662C>T uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron NM_015180 NP_055995 LMF1 64788 broad.mit.edu 37 16 1001359 1001359 + Intron SNP C G G rs3852753 by1000genomes 2011-2297:2012-323-T g.chr16:1001359C>G uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 SETD1A 9739 broad.mit.edu 37 16 30970045 30970045 + 5'UTR SNP G A A 2011-2297:2012-323-T g.chr16:30970045G>A uc002ead.1 + 2 SETD1A_uc002eae.1_5'UTR NM_014712 NP_055527 ABR 29 broad.mit.edu 37 17 1046533 1046534 + Intron DNP GC AT AT 2011-2297:2012-323-T g.chr17:1046533_1046534GC>AT uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 NCOR1 9611 broad.mit.edu 37 17 15978831 15978831 + Intron SNP A C C 2011-2297:2012-323-T g.chr17:15978831A>C uc002gpo.2 - NCOR1_uc002gpn.2_Intron|NCOR1_uc002gpp.1_Intron|NCOR1_uc010vwb.1_Intron|NCOR1_uc010coy.2_Intron|NCOR1_uc010vwc.1_Intron NM_006311 NP_006302 NF1 4763 broad.mit.edu 37 17 29527494 29527494 + Nonsense_Mutation SNP C T T 2011-2297:2012-323-T g.chr17:29527494C>T uc002hgg.2 + 9 1276 c.943C>T c.(943-945)CAG>TAG p.Q315* NF1_uc002hge.1_Nonsense_Mutation_p.Q315*|NF1_uc002hgf.1_Nonsense_Mutation_p.Q315*|NF1_uc002hgh.2_Nonsense_Mutation_p.Q315*|NF1_uc010csn.1_Nonsense_Mutation_p.Q175* NM_001042492 NP_001035957 PHLPP1 23239 broad.mit.edu 37 18 60582022 60582022 + Intron SNP C T T 2011-2297:2012-323-T g.chr18:60582022C>T uc002lis.2 + NM_194449 NP_919431 PXDN 7837 broad.mit.edu 37 2 1708334 1708334 + Intron SNP A G G 2011-2297:2012-323-T g.chr2:1708334A>G uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 LRP1B 53353 broad.mit.edu 37 2 141214064 141214064 + Missense_Mutation SNP G T T 2011-2297:2012-323-T g.chr2:141214064G>T uc002tvj.1 - 62 10895 c.9923C>A c.(9922-9924)GCT>GAT p.A3308D NM_018557 NP_061027 ZEB2 9839 broad.mit.edu 37 2 145187476 145187476 + Missense_Mutation SNP C T T 2011-2297:2012-323-T g.chr2:145187476C>T uc002tvu.2 - 3 671 c.191G>A c.(190-192)AGT>AAT p.S64N ZEB2_uc002tvv.2_Missense_Mutation_p.S59N|ZEB2_uc010zbm.1_Missense_Mutation_p.S59N|ZEB2_uc010fnp.2_Missense_Mutation_p.S59N|ZEB2_uc010fnq.1_Missense_Mutation_p.S93N|ZEB2_uc002tvw.2_Missense_Mutation_p.S59N NM_014795 NP_055610 NFE2L2 4780 broad.mit.edu 37 2 178097918 178097918 + Intron SNP G C C 2011-2297:2012-323-T g.chr2:178097918G>C uc002ulh.3 - NFE2L2_uc002ulg.3_Intron|NFE2L2_uc010zfa.1_Intron|NFE2L2_uc002uli.3_Intron|NFE2L2_uc010fra.2_Missense_Mutation_p.I138M NM_006164 NP_006155 TTN 7273 broad.mit.edu 37 2 179480402 179480402 + Nonsense_Mutation SNP A T T 2011-2297:2012-323-T g.chr2:179480402A>T uc010zfg.1 - 207 40946 c.40722T>A c.(40720-40722)TAT>TAA p.Y13574* TTN_uc010zfh.1_Nonsense_Mutation_p.Y7269*|TTN_uc010zfi.1_Nonsense_Mutation_p.Y7202*|TTN_uc010zfj.1_Nonsense_Mutation_p.Y7077* NM_133378 NP_596869 MICAL3 57553 broad.mit.edu 37 22 18360211 18360211 + Intron SNP G A A 2011-2297:2012-323-T g.chr22:18360211G>A uc002zng.3 - MICAL3_uc011agl.1_Intron|MICAL3_uc002znh.2_Intron|MICAL3_uc002znj.1_Intron|MICAL3_uc002znk.1_Intron|MICAL3_uc002znl.1_Intron|MICAL3_uc002znm.2_Intron|MICAL3_uc010grf.2_Intron NM_015241 NP_056056 TET2 54790 broad.mit.edu 37 4 106157700 106157700 + Nonsense_Mutation SNP T A A rs145844118 2011-2297:2012-323-T g.chr4:106157700T>A uc003hxk.2 + 3 2987 c.2601T>A c.(2599-2601)TAT>TAA p.Y867* TET2_uc011cez.1_Nonsense_Mutation_p.Y888*|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Nonsense_Mutation_p.Y867*|TET2_uc003hxi.1_Nonsense_Mutation_p.Y867* NM_001127208 NP_001120680 AIM1 202 broad.mit.edu 37 6 106959637 106959637 + 5'Flank SNP G A A 2011-2297:2012-323-T g.chr6:106959637G>A uc003prh.2 + NM_001624 NP_001615 HBS1L 10767 broad.mit.edu 37 6 135303768 135303768 + Intron SNP T C C 2011-2297:2012-323-T g.chr6:135303768T>C uc003qez.2 - HBS1L_uc003qey.2_Intron|HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Intron|HBS1L_uc011eda.1_Intron NM_006620 NP_006611 SYNE1 23345 broad.mit.edu 37 6 152651000 152651000 + Silent SNP G A A 2011-2297:2012-323-T g.chr6:152651000G>A uc010kiw.2 - 78 15422 c.14820C>T c.(14818-14820)ATC>ATT p.I4940I SYNE1_uc003qot.3_Silent_p.I4869I|SYNE1_uc003qou.3_Silent_p.I4940I|SYNE1_uc010kiz.2_Silent_p.I695I NM_182961 NP_892006 HUWE1 10075 broad.mit.edu 37 X 53603920 53603920 + Missense_Mutation SNP T C C rs146386689 2011-2297:2012-323-T g.chrX:53603920T>C uc004dsp.2 - 44 6226 c.5824A>G c.(5824-5826)ATC>GTC p.I1942V HUWE1_uc004dsn.2_Missense_Mutation_p.I767V NM_031407 NP_113584 KIAA1751 85452 broad.mit.edu 37 1 1900800 1900800 + Intron SNP A C C 2011-2298:2012-322-T g.chr1:1900800A>C uc001aim.1 - KIAA1751_uc009vkz.1_Intron NM_001080484 NP_001073953 COL11A1 1301 broad.mit.edu 37 1 103496779 103496779 + Missense_Mutation SNP T C C 2011-2298:2012-322-T g.chr1:103496779T>C uc001dul.2 - 5 991 c.673A>G c.(673-675)ATC>GTC p.I225V COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.I225V|COL11A1_uc001dun.2_Missense_Mutation_p.I225V|COL11A1_uc009weh.2_Missense_Mutation_p.I225V NM_001854 NP_001845 USH2A 7399 broad.mit.edu 37 1 215916372 215916372 + Intron SNP G C C 2011-2298:2012-322-T g.chr1:215916372G>C uc001hku.1 - NM_206933 NP_996816 USH2A 7399 broad.mit.edu 37 1 216380670 216380670 + Nonsense_Mutation SNP G T T 2011-2298:2012-322-T g.chr1:216380670G>T uc001hku.1 - 16 3648 c.3261C>A c.(3259-3261)TAC>TAA p.Y1087* USH2A_uc001hkv.2_Nonsense_Mutation_p.Y1087* NM_206933 NP_996816 DIP2C 22982 broad.mit.edu 37 10 725565 725566 + Intron DNP TG CA CA 2011-2298:2012-322-T g.chr10:725565_725566TG>CA uc001ifp.2 - NM_014974 NP_055789 ANXA8 653145 broad.mit.edu 37 10 47059281 47059281 + Intron SNP A G G 2011-2298:2012-322-T g.chr10:47059281A>G uc001jed.3 - ANXA8 653145 broad.mit.edu 37 10 47059292 47059292 + Intron SNP A G G 2011-2298:2012-322-T g.chr10:47059292A>G uc001jed.3 - IGF2 3481 broad.mit.edu 37 11 2153129 2153129 + 3'UTR SNP G A A 2011-2298:2012-322-T g.chr11:2153129G>A uc009yde.2 - 4 IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_3'UTR|IGF2_uc009ydf.2_3'UTR|IGF2_uc001lvh.2_3'UTR|INS-IGF2_uc001lvi.2_RNA NM_001007139 NP_001007140 SLC2A13 114134 broad.mit.edu 37 12 40345198 40345198 + Intron SNP C G G 2011-2298:2012-322-T g.chr12:40345198C>G uc010skm.1 - SLC2A13_uc001rmf.2_Intron NM_052885 NP_443117 TMEM132D 121256 broad.mit.edu 37 12 129574033 129574033 + Intron SNP C A A 2011-2298:2012-322-T g.chr12:129574033C>A uc009zyl.1 - NM_133448 NP_597705 SYNE2 23224 broad.mit.edu 37 14 64565245 64565245 + Intron SNP G A A 2011-2298:2012-322-T g.chr14:64565245G>A uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc010apx.1_Intron|SYNE2_uc010apz.1_5'Flank NM_015180 NP_055995 LMF1 64788 broad.mit.edu 37 16 998857 998857 + Intron SNP C T T rs34349854 2011-2298:2012-322-T g.chr16:998857C>T uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 1003057 1003057 + Intron SNP G A A 2011-2298:2012-322-T g.chr16:1003057G>A uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 TP53 7157 broad.mit.edu 37 17 7578526 7578526 + Missense_Mutation SNP C T T 2011-2298:2012-322-T g.chr17:7578526C>T uc002gim.2 - 5 598 c.404G>A c.(403-405)TGC>TAC p.C135Y TP53_uc002gig.1_Missense_Mutation_p.C135Y|TP53_uc002gih.2_Missense_Mutation_p.C135Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C3Y|TP53_uc010cng.1_Missense_Mutation_p.C3Y|TP53_uc002gii.1_Missense_Mutation_p.C3Y|TP53_uc010cnh.1_Missense_Mutation_p.C135Y|TP53_uc010cni.1_Missense_Mutation_p.C135Y|TP53_uc002gij.2_Missense_Mutation_p.C135Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C42Y|TP53_uc002gio.2_Missense_Mutation_p.C3Y|TP53_uc010vug.1_Missense_Mutation_p.C96Y NM_001126112 NP_001119584 BRCA1 672 broad.mit.edu 37 17 41321905 41321905 + Intron SNP C G G 2011-2298:2012-322-T g.chr17:41321905C>G uc010whp.1 - uc010czc.2_Intron|NBR1_uc010czd.2_5'Flank|NBR1_uc010diz.2_5'Flank|NBR1_uc010whu.1_5'Flank|NBR1_uc010whv.1_5'Flank|NBR1_uc010whw.1_5'Flank NM_007298 NP_009229 SEC14L1 6397 broad.mit.edu 37 17 75212138 75212138 + 3'UTR SNP C T T 2011-2298:2012-322-T g.chr17:75212138C>T uc002jto.2 + 17 SEC14L1_uc010dhc.2_Intron|SEC14L1_uc010wth.1_3'UTR|SEC14L1_uc002jtm.2_3'UTR|SEC14L1_uc010wti.1_3'UTR NM_003003 NP_002994 CDH2 1000 broad.mit.edu 37 18 25736606 25736606 + Intron SNP C A A rs71370785 2011-2298:2012-322-T g.chr18:25736606C>A uc002kwg.2 - NM_001792 NP_001783 SETBP1 26040 broad.mit.edu 37 18 42643275 42643275 + Missense_Mutation SNP C G G 2011-2298:2012-322-T g.chr18:42643275C>G uc010dni.2 + 6 4699 c.4403C>G c.(4402-4404)TCC>TGC p.S1468C NM_015559 NP_056374 SMAD4 4089 broad.mit.edu 37 18 48573459 48573459 + Missense_Mutation SNP G A A 2011-2298:2012-322-T g.chr18:48573459G>A uc010xdp.1 + 2 581 c.43G>A c.(43-45)GCC>ACC p.A15T SMAD4_uc010xdo.1_RNA NM_005359 NP_005350 ZNF180 7733 broad.mit.edu 37 19 44981095 44981095 + Missense_Mutation SNP G C C 2011-2298:2012-322-T g.chr19:44981095G>C uc002ozf.3 - 5 1885 c.1603C>G c.(1603-1605)CAG>GAG p.Q535E ZNF180_uc002ozh.3_Missense_Mutation_p.Q192E|ZNF180_uc002ozi.3_Missense_Mutation_p.Q508E|ZNF180_uc002ozg.3_Missense_Mutation_p.Q534E|ZNF180_uc010ejm.2_Missense_Mutation_p.Q510E NM_013256 NP_037388 NTN5 126147 broad.mit.edu 37 19 49172647 49172647 + Intron SNP C T T 2011-2298:2012-322-T g.chr19:49172647C>T uc002pkb.2 - SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|NTN5_uc002pkc.2_Intron NM_145807 NP_665806 NLRP12 91662 broad.mit.edu 37 19 54310750 54310750 + Missense_Mutation SNP T A A 2011-2298:2012-322-T g.chr19:54310750T>A uc002qch.3 - 4 2462 c.2242A>T c.(2242-2244)AGG>TGG p.R748W NLRP12_uc010eqw.2_5'UTR|NLRP12_uc002qci.3_Missense_Mutation_p.R748W|NLRP12_uc002qcj.3_Missense_Mutation_p.R749W|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R749W NM_144687 NP_653288 HPCAL1 3241 broad.mit.edu 37 2 10539397 10539397 + Intron SNP C T T 2011-2298:2012-322-T g.chr2:10539397C>T uc002raj.2 + HPCAL1_uc002rak.2_Intron|HPCAL1_uc002ral.2_Intron|HPCAL1_uc010exe.2_Intron|HPCAL1_uc010exf.2_Intron NM_002149 NP_002140 HPCAL1 3241 broad.mit.edu 37 2 10539427 10539427 + Intron SNP C T T 2011-2298:2012-322-T g.chr2:10539427C>T uc002raj.2 + HPCAL1_uc002rak.2_Intron|HPCAL1_uc002ral.2_Intron|HPCAL1_uc010exe.2_Intron|HPCAL1_uc010exf.2_Intron NM_002149 NP_002140 CNGA3 1261 broad.mit.edu 37 2 99012306 99012306 + Splice_Site SNP G C C 2011-2298:2012-322-T g.chr2:99012306G>C uc002syt.2 + 8 1091 c.674_splice c.e8-1 p.G225_splice CNGA3_uc002syu.2_Splice_Site_p.G207_splice|CNGA3_uc010fij.2_Splice_Site_p.G229_splice NM_001298 NP_001289 TTN 7273 broad.mit.edu 37 2 179411817 179411817 + Missense_Mutation SNP A G G 2011-2298:2012-322-T g.chr2:179411817A>G uc010zfg.1 - 289 86955 c.86731T>C c.(86731-86733)TAT>CAT p.Y28911H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y22606H|TTN_uc010zfi.1_Missense_Mutation_p.Y22539H|TTN_uc010zfj.1_Missense_Mutation_p.Y22414H NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179594537 179594537 + Missense_Mutation SNP G A A 2011-2298:2012-322-T g.chr2:179594537G>A uc010zfg.1 - 60 14935 c.14711C>T c.(14710-14712)GCC>GTC p.A4904V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A1565V NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179634544 179634544 + Missense_Mutation SNP C G G 2011-2298:2012-322-T g.chr2:179634544C>G uc010zfg.1 - 37 8988 c.8764G>C c.(8764-8766)GAG>CAG p.E2922Q TTN_uc010zfh.1_Missense_Mutation_p.E2876Q|TTN_uc010zfi.1_Missense_Mutation_p.E2876Q|TTN_uc010zfj.1_Missense_Mutation_p.E2876Q|TTN_uc002unb.2_Missense_Mutation_p.E2922Q NM_133378 NP_596869 STAT1 6772 broad.mit.edu 37 2 191841922 191841922 + Intron SNP T C C 2011-2298:2012-322-T g.chr2:191841922T>C uc002usj.2 - STAT1_uc010fse.1_Intron|STAT1_uc002usk.2_Intron|STAT1_uc002usl.2_Intron NM_007315 NP_009330 TAF4 6874 broad.mit.edu 37 20 60561279 60561279 + Intron SNP T C C 2011-2298:2012-322-T g.chr20:60561279T>C uc002ybs.2 - NM_003185 NP_003176 CNTN6 27255 broad.mit.edu 37 3 1444072 1444072 + Missense_Mutation SNP T A A 2011-2298:2012-322-T g.chr3:1444072T>A uc003boz.2 + 22 3155 c.2888T>A c.(2887-2889)CTG>CAG p.L963Q CNTN6_uc011asj.1_Missense_Mutation_p.L891Q|CNTN6_uc003bpa.2_Missense_Mutation_p.L963Q NM_014461 NP_055276 EPHA3 2042 broad.mit.edu 37 3 89390058 89390058 + Intron SNP G T T 2011-2298:2012-322-T g.chr3:89390058G>T uc003dqy.2 + EPHA3_uc003dqx.1_Intron|EPHA3_uc010hon.1_Intron NM_005233 NP_005224 BBX 56987 broad.mit.edu 37 3 107429465 107429465 + Missense_Mutation SNP A G G 2011-2298:2012-322-T g.chr3:107429465A>G uc010hpr.2 + 4 485 c.158A>G c.(157-159)GAT>GGT p.D53G BBX_uc003dwk.3_Missense_Mutation_p.D53G|BBX_uc003dwl.3_Missense_Mutation_p.D53G|BBX_uc010hps.1_Missense_Mutation_p.D74G|BBX_uc003dwm.3_Missense_Mutation_p.D53G NM_001142568 NP_001136040 TP63 8626 broad.mit.edu 37 3 189604194 189604194 + Missense_Mutation SNP A G G 2011-2298:2012-322-T g.chr3:189604194A>G uc003fry.2 + 11 1450 c.1361A>G c.(1360-1362)CAG>CGG p.Q454R TP63_uc003frz.2_Missense_Mutation_p.Q454R|TP63_uc010hzc.1_Missense_Mutation_p.Q454R|TP63_uc003fsc.2_Missense_Mutation_p.Q360R|TP63_uc003fsd.2_Missense_Mutation_p.Q360R|TP63_uc010hzd.1_Missense_Mutation_p.Q275R NM_003722 NP_003713 MUC4 4585 broad.mit.edu 37 3 195502429 195502429 + Intron SNP A G G 2011-2298:2012-322-T g.chr3:195502429A>G uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 KDR 3791 broad.mit.edu 37 4 55948758 55948758 + Missense_Mutation SNP A T T 2011-2298:2012-322-T g.chr4:55948758A>T uc003has.2 - 28 4009 c.3707T>A c.(3706-3708)GTA>GAA p.V1236E KDR_uc003hat.1_Missense_Mutation_p.V1236E NM_002253 NP_002244 SLC6A18 348932 broad.mit.edu 37 5 1227299 1227299 + Intron SNP C T T 2011-2298:2012-322-T g.chr5:1227299C>T uc003jby.1 + NM_182632 NP_872438 SLCO4C1 353189 broad.mit.edu 37 5 101606528 101606528 + Intron SNP T C C rs66964883 2011-2298:2012-322-T g.chr5:101606528T>C uc003knm.2 - NM_180991 NP_851322 E2F3 1871 broad.mit.edu 37 6 20490405 20490405 + Missense_Mutation SNP C A A 2011-2298:2012-322-T g.chr6:20490405C>A uc003nda.2 + 7 1469 c.1142C>A c.(1141-1143)GCT>GAT p.A381D NM_001949 NP_001940 HLA-F 3134 broad.mit.edu 37 6 29689425 29689425 + 5'Flank SNP G C C 2011-2298:2012-322-T g.chr6:29689425G>C uc010jrl.2 + HLA-F_uc003nnm.3_5'Flank|HLA-F_uc003nno.3_5'Flank|HLA-F_uc011dlx.1_5'Flank|HLA-F_uc011dly.1_5'Flank NM_018950 NP_061823 AIM1 202 broad.mit.edu 37 6 106968385 106968385 + Missense_Mutation SNP C G G 2011-2298:2012-322-T g.chr6:106968385C>G uc003prh.2 + 2 2565 c.2078C>G c.(2077-2079)TCT>TGT p.S693C NM_001624 NP_001615 THSD7A 221981 broad.mit.edu 37 7 11416197 11416197 + Missense_Mutation SNP C A A 2011-2298:2012-322-T g.chr7:11416197C>A uc003ssf.3 - 26 5141 c.4889G>T c.(4888-4890)TGC>TTC p.C1630F uc003ssb.2_Intron|THSD7A_uc003ssd.3_Missense_Mutation_p.C134F NM_015204 NP_056019 THSD7A 221981 broad.mit.edu 37 7 11509534 11509534 + Missense_Mutation SNP C A A 2011-2298:2012-322-T g.chr7:11509534C>A uc003ssf.3 - 9 2592 c.2340G>T c.(2338-2340)TGG>TGT p.W780C NM_015204 NP_056019 SLC26A3 1811 broad.mit.edu 37 7 107423341 107423341 + Intron SNP C G G 2011-2298:2012-322-T g.chr7:107423341C>G uc003ver.2 - SLC26A3_uc003ves.2_Intron NM_000111 NP_000102 MET 4233 broad.mit.edu 37 7 116398461 116398461 + Intron SNP A G G 2011-2298:2012-322-T g.chr7:116398461A>G uc003vij.2 + MET_uc010lkh.2_Intron|MET_uc011kng.1_Intron|MET_uc011knh.1_Intron|MET_uc011kni.1_Intron|MET_uc011knj.1_Intron NM_000245 NP_000236 EXOC4 60412 broad.mit.edu 37 7 132937628 132937628 + 5'Flank SNP A T T 2011-2298:2012-322-T g.chr7:132937628A>T uc003vrk.2 + EXOC4_uc011kpo.1_5'Flank|EXOC4_uc003vri.2_5'Flank|EXOC4_uc003vrj.2_5'Flank NM_021807 NP_068579 KIAA1549 57670 broad.mit.edu 37 7 138597024 138597024 + Intron SNP G C C 2011-2298:2012-322-T g.chr7:138597024G>C uc011kql.1 - KIAA1549_uc003vuk.3_Intron|KIAA1549_uc011kqj.1_Intron NM_020910 NP_065961 RB1CC1 9821 broad.mit.edu 37 8 53569276 53569276 + Missense_Mutation SNP T C C 2011-2298:2012-322-T g.chr8:53569276T>C uc003xre.3 - 15 3671 c.3113A>G c.(3112-3114)GAA>GGA p.E1038G RB1CC1_uc003xrf.3_Missense_Mutation_p.E1038G NM_014781 NP_055596 CSMD3 114788 broad.mit.edu 37 8 113349858 113349858 + Missense_Mutation SNP G C C 2011-2298:2012-322-T g.chr8:113349858G>C uc003ynu.2 - 43 6914 c.6755C>G c.(6754-6756)CCA>CGA p.P2252R CSMD3_uc003yns.2_Missense_Mutation_p.P1454R|CSMD3_uc003ynt.2_Missense_Mutation_p.P2212R|CSMD3_uc011lhx.1_Missense_Mutation_p.P2148R|CSMD3_uc003ynw.1_5'UTR NM_198123 NP_937756 TOP1MT 116447 broad.mit.edu 37 8 144405117 144405117 + Intron SNP A G G rs138039866 by1000genomes 2011-2298:2012-322-T g.chr8:144405117A>G uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 HEATR7A 727957 broad.mit.edu 37 8 145288295 145288295 + Intron SNP C A A rs11779369 2011-2298:2012-322-T g.chr8:145288295C>A uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 EHMT1 79813 broad.mit.edu 37 9 140615768 140615768 + Intron SNP A G G 2011-2298:2012-322-T g.chr9:140615768A>G uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 NKAP 79576 broad.mit.edu 37 X 119059416 119059416 + Intron SNP C T T 2011-2298:2012-322-T g.chrX:119059416C>T uc004esh.2 - NKAP_uc004esg.2_Intron NM_024528 NP_078804 MEGF6 1953 broad.mit.edu 37 1 3500360 3500360 + Intron SNP G C C 2011-2299:2012-1334-T g.chr1:3500360G>C uc001akl.2 - NM_001409 NP_001400 ABCA4 24 broad.mit.edu 37 1 94548931 94548931 + Missense_Mutation SNP C T T 2011-2299:2012-1334-T g.chr1:94548931C>T uc001dqh.2 - 7 939 c.835G>A c.(835-837)GAT>AAT p.D279N ABCA4_uc010otn.1_Missense_Mutation_p.D279N NM_000350 NP_000341 CDH23 64072 broad.mit.edu 37 10 73448824 73448824 + Intron SNP G T T 2011-2299:2012-1334-T g.chr10:73448824G>T uc001jrx.3 + CDH23_uc001jry.2_Intron|CDH23_uc001jrz.2_Intron NM_022124 NP_071407 TSPAN9 10867 broad.mit.edu 37 12 3307245 3307245 + Intron SNP G C C 2011-2299:2012-1334-T g.chr12:3307245G>C uc001qlp.2 + NM_006675 NP_006666 PIK3C2G 5288 broad.mit.edu 37 12 18762450 18762450 + Intron SNP A C C rs2277328 by1000genomes 2011-2299:2012-1334-T g.chr12:18762450A>C uc001rdt.2 + PIK3C2G_uc010sia.1_Intron|PIK3C2G_uc010sib.1_Intron|PIK3C2G_uc010sic.1_Intron NM_004570 NP_004561 LMF1 64788 broad.mit.edu 37 16 908582 908582 + Intron SNP C T T 2011-2299:2012-1334-T g.chr16:908582C>T uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 KLHDC4 54758 broad.mit.edu 37 16 87772300 87772300 + Intron SNP A G G 2011-2299:2012-1334-T g.chr16:87772300A>G uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 KLHDC4 54758 broad.mit.edu 37 16 87772648 87772648 + Intron SNP T C C 2011-2299:2012-1334-T g.chr16:87772648T>C uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 NCOR1 9611 broad.mit.edu 37 17 15989671 15989671 + Silent SNP G A A 2011-2299:2012-1334-T g.chr17:15989671G>A uc002gpo.2 - 23 3342 c.3102C>T c.(3100-3102)CCC>CCT p.P1034P NCOR1_uc002gpn.2_Silent_p.P1050P|NCOR1_uc002gpp.1_Silent_p.P941P|NCOR1_uc002gpq.1_Silent_p.P126P NM_006311 NP_006302 PRKCA 5578 broad.mit.edu 37 17 64794792 64794792 + Intron SNP A G G 2011-2299:2012-1334-T g.chr17:64794792A>G uc002jfp.1 + NM_002737 NP_002728 RPTOR 57521 broad.mit.edu 37 17 78717843 78717843 + Intron SNP T C C 2011-2299:2012-1334-T g.chr17:78717843T>C uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 RPTOR 57521 broad.mit.edu 37 17 78717850 78717850 + Intron SNP C T T 2011-2299:2012-1334-T g.chr17:78717850C>T uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 RPTOR 57521 broad.mit.edu 37 17 78718239 78718239 + Intron SNP C T T 2011-2299:2012-1334-T g.chr17:78718239C>T uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 KIAA1468 57614 broad.mit.edu 37 18 59958847 59958847 + Missense_Mutation SNP C T T 2011-2299:2012-1334-T g.chr18:59958847C>T uc002lil.2 + 27 3657 c.3442C>T c.(3442-3444)CTC>TTC p.L1148F KIAA1468_uc010xel.1_Missense_Mutation_p.L1148F|KIAA1468_uc002lim.2_Missense_Mutation_p.L826F NM_020854 NP_065905 ATP9B 374868 broad.mit.edu 37 18 77087809 77087809 + Intron SNP G A A 2011-2299:2012-1334-T g.chr18:77087809G>A uc002lmx.2 + ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Intron|ATP9B_uc002lmz.1_Intron NM_198531 NP_940933 C18orf22 79863 broad.mit.edu 37 18 77833562 77833562 + Intron SNP G A A 2011-2299:2012-1334-T g.chr18:77833562G>A uc010dri.1 + uc002lnu.2_Intron U2AF2 11338 broad.mit.edu 37 19 56181851 56181851 + Intron SNP G C C 2011-2299:2012-1334-T g.chr19:56181851G>C uc002qlu.2 + U2AF2_uc002qlt.2_Intron NM_007279 NP_009210 RMND5A 64795 broad.mit.edu 37 2 87641918 87641918 + Intron SNP G C C 2011-2299:2012-1334-T g.chr2:87641918G>C uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87641985 87641985 + Intron SNP C T T 2011-2299:2012-1334-T g.chr2:87641985C>T uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87644457 87644457 + Intron SNP C T T 2011-2299:2012-1334-T g.chr2:87644457C>T uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87656158 87656158 + Intron SNP C A A 2011-2299:2012-1334-T g.chr2:87656158C>A uc002srs.3 + C20orf26 26074 broad.mit.edu 37 20 20338566 20338566 + Intron SNP G A A 2011-2299:2012-1334-T g.chr20:20338566G>A uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 BAGE2 85319 broad.mit.edu 37 21 11021038 11021038 + Intron SNP T A A rs144226131 by1000genomes 2011-2299:2012-1334-T g.chr21:11021038T>A uc002yit.1 - TPTE_uc002yis.1_Intron NM_182482 NP_872288 BAGE2 85319 broad.mit.edu 37 21 11038700 11038700 + Intron SNP T A A 2011-2299:2012-1334-T g.chr21:11038700T>A uc002yit.1 - TPTE_uc002yis.1_Intron NM_182482 NP_872288 BAGE2 85319 broad.mit.edu 37 21 11049651 11049651 + Intron SNP T C C rs12329881 by1000genomes 2011-2299:2012-1334-T g.chr21:11049651T>C uc002yit.1 - NM_182482 NP_872288 CEP72 55722 broad.mit.edu 37 5 650266 650266 + Intron SNP G A A rs141119533 by1000genomes 2011-2299:2012-1334-T g.chr5:650266G>A uc003jbf.2 + NM_018140 NP_060610 NSD1 64324 broad.mit.edu 37 5 176693575 176693576 + Intron DNP CT TG TG 2011-2299:2012-1334-T g.chr5:176693575_176693576CT>TG uc003mfr.3 + NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Intron|NSD1_uc011dfx.1_Intron NM_022455 NP_071900 BPHL 670 broad.mit.edu 37 6 3146880 3146880 + Intron SNP G A A 2011-2299:2012-1334-T g.chr6:3146880G>A uc003mva.2 + BPHL_uc003muz.2_Intron|BPHL_uc011dht.1_Intron|BPHL_uc003muy.2_Intron NM_004332 NP_004323 SYNE1 23345 broad.mit.edu 37 6 152765647 152765647 + Missense_Mutation SNP C T T rs138915528 2011-2299:2012-1334-T g.chr6:152765647C>T uc010kiw.2 - 30 4338 c.3736G>A c.(3736-3738)GAA>AAA p.E1246K SYNE1_uc003qot.3_Missense_Mutation_p.E1253K|SYNE1_uc003qou.3_Missense_Mutation_p.E1246K|SYNE1_uc010kjb.1_Missense_Mutation_p.E1229K|SYNE1_uc003qow.2_Missense_Mutation_p.E541K|SYNE1_uc003qox.1_Missense_Mutation_p.E762K NM_182961 NP_892006 SMOC2 64094 broad.mit.edu 37 6 169014616 169014616 + Intron SNP G T T 2011-2299:2012-1334-T g.chr6:169014616G>T uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 SMOC2 64094 broad.mit.edu 37 6 169015447 169015447 + Intron SNP A G G 2011-2299:2012-1334-T g.chr6:169015447A>G uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 MLL3 58508 broad.mit.edu 37 7 151970695 151970695 + Intron SNP A T T 2011-2299:2012-1334-T g.chr7:151970695A>T uc003wla.2 - NM_170606 NP_733751 PTPRN2 5799 broad.mit.edu 37 7 157864065 157864065 + Intron SNP G A A 2011-2299:2012-1334-T g.chr7:157864065G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc003wnt.1_5'Flank NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158144762 158144762 + Intron SNP C G G 2011-2299:2012-1334-T g.chr7:158144762C>G uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PBX3 5090 broad.mit.edu 37 9 128728325 128728325 + 3'UTR SNP C A A 2011-2299:2012-1334-T g.chr9:128728325C>A uc004bqb.2 + 9 PBX3_uc004bqc.2_3'UTR|PBX3_uc004bqd.2_3'UTR|PBX3_uc011lzw.1_3'UTR|PBX3_uc011lzx.1_3'UTR|PBX3_uc004bqe.2_3'UTR NM_006195 NP_006186 NOTCH1 4851 broad.mit.edu 37 9 139392012 139392012 + Intron SNP T A A 2011-2299:2012-1334-T g.chr9:139392012T>A uc004chz.2 - NM_017617 NP_060087 HDX 139324 broad.mit.edu 37 X 83724103 83724103 + Missense_Mutation SNP G T T 2011-2299:2012-1334-T g.chrX:83724103G>T uc004eek.1 - 3 737 c.628C>A c.(628-630)CCT>ACT p.P210T HDX_uc011mqv.1_Missense_Mutation_p.P210T|HDX_uc004eel.1_Missense_Mutation_p.P152T NM_144657 NP_653258 USP26 83844 broad.mit.edu 37 X 132160085 132160085 + Missense_Mutation SNP C T T 2011-2299:2012-1334-T g.chrX:132160085C>T uc010nrm.1 - 6 2634 c.2164G>A c.(2164-2166)GAA>AAA p.E722K USP26_uc011mvf.1_Missense_Mutation_p.E722K NM_031907 NP_114113 SCNN1D 6339 broad.mit.edu 37 1 1224865 1224865 + Intron SNP T C C 2011-2300:2012-321-T g.chr1:1224865T>C uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 SCNN1D 6339 broad.mit.edu 37 1 1225009 1225009 + Intron SNP T C C 2011-2300:2012-321-T g.chr1:1225009T>C uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 PRKCZ 5590 broad.mit.edu 37 1 2054762 2054762 + Intron SNP A G G 2011-2300:2012-321-T g.chr1:2054762A>G uc001aiq.2 + PRKCZ_uc001air.2_Intron|PRKCZ_uc010nyw.1_Intron|PRKCZ_uc001ais.2_Intron NM_002744 NP_002735 KIAA0562 9731 broad.mit.edu 37 1 3741575 3741575 + Intron SNP G A A 2011-2300:2012-321-T g.chr1:3741575G>A uc001aky.2 - KIAA0562_uc010nzm.1_Intron NM_014704 NP_055519 NBPF1 55672 broad.mit.edu 37 1 16892801 16892801 + Intron SNP C T T 2011-2300:2012-321-T g.chr1:16892801C>T uc009vos.1 - uc001ayw.2_5'Flank NM_017940 NP_060410 NOTCH2 4853 broad.mit.edu 37 1 120471540 120471540 + Intron SNP T A A 2011-2300:2012-321-T g.chr1:120471540T>A uc001eik.2 - NM_024408 NP_077719 SMYD3 64754 broad.mit.edu 37 1 246139486 246139487 + Intron DNP CG TA TA rs149525810 2011-2300:2012-321-T g.chr1:246139486_246139487CG>TA uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 OR51S1 119692 broad.mit.edu 37 11 4870501 4870501 + 5'Flank SNP C T T 2011-2300:2012-321-T g.chr11:4870501C>T uc010qyo.1 - NM_001004758 NP_001004758 GPR133 283383 broad.mit.edu 37 12 131613841 131613841 + Intron SNP G A A 2011-2300:2012-321-T g.chr12:131613841G>A uc001uit.3 + GPR133_uc010tbm.1_Intron|GPR133_uc009zyo.2_Intron|GPR133_uc009zyp.2_Intron NM_198827 NP_942122 ATP11A 23250 broad.mit.edu 37 13 113527558 113527558 + Intron SNP T G G rs111370207 2011-2300:2012-321-T g.chr13:113527558T>G uc001vsi.3 + ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_Intron NM_015205 NP_056020 MCF2L 23263 broad.mit.edu 37 13 113665990 113665990 + Intron SNP G A A rs78098297 by1000genomes 2011-2300:2012-321-T g.chr13:113665990G>A uc001vsu.2 + MCF2L_uc001vsq.2_Intron|MCF2L_uc010tjr.1_Intron|MCF2L_uc001vsr.2_Intron|MCF2L_uc001vss.3_Intron|MCF2L_uc010tjs.1_Intron NM_001112732 NP_001106203 FAM179B 23116 broad.mit.edu 37 14 45537733 45537733 + Missense_Mutation SNP C G G 2011-2300:2012-321-T g.chr14:45537733C>G uc001wvv.2 + 17 4906 c.4697C>G c.(4696-4698)TCT>TGT p.S1566C FAM179B_uc001wvw.2_Missense_Mutation_p.S1619C|FAM179B_uc010anc.2_RNA NM_015091 NP_055906 SYNE2 23224 broad.mit.edu 37 14 64518309 64518309 + Missense_Mutation SNP A G G 2011-2300:2012-321-T g.chr14:64518309A>G uc001xgm.2 + 48 7908 c.7678A>G c.(7678-7680)ATT>GTT p.I2560V SYNE2_uc001xgl.2_Missense_Mutation_p.I2560V NM_015180 NP_055995 NRXN3 9369 broad.mit.edu 37 14 80312049 80312049 + Intron SNP C G G rs71103829 2011-2300:2012-321-T g.chr14:80312049C>G uc001xun.2 + NRXN3_uc001xum.1_Intron|NRXN3_uc001xup.2_Intron|NRXN3_uc001xuq.2_Intron|NRXN3_uc010asw.2_Intron|NRXN3_uc001xur.3_Intron NM_004796 NP_004787 PPP4R4 57718 broad.mit.edu 37 14 94703955 94703955 + Missense_Mutation SNP A T T 2011-2300:2012-321-T g.chr14:94703955A>T uc001ycs.1 + 8 939 c.785A>T c.(784-786)GAT>GTT p.D262V NM_058237 NP_478144 RAB11FIP3 9727 broad.mit.edu 37 16 554301 554301 + Intron SNP C T T 2011-2300:2012-321-T g.chr16:554301C>T uc002chf.2 + RAB11FIP3_uc010uuf.1_Intron|RAB11FIP3_uc010uug.1_Intron NM_014700 NP_055515 P2RX5 5026 broad.mit.edu 37 17 3584101 3584101 + Intron SNP A G G 2011-2300:2012-321-T g.chr17:3584101A>G uc002fwi.2 - P2RX5_uc002fwd.2_Intron|P2RX5_uc002fwh.1_Intron|P2RX5_uc010vrx.1_Intron|P2RX5_uc002fwj.2_Intron|P2RX5_uc002fwk.2_Intron|P2RX5_uc002fwl.2_Intron NM_002561 NP_002552 TP53 7157 broad.mit.edu 37 17 7578235 7578235 + Missense_Mutation SNP T C C 2011-2300:2012-321-T g.chr17:7578235T>C uc002gim.2 - 6 808 c.614A>G c.(613-615)TAT>TGT p.Y205C TP53_uc002gig.1_Missense_Mutation_p.Y205C|TP53_uc002gih.2_Missense_Mutation_p.Y205C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y73C|TP53_uc010cng.1_Missense_Mutation_p.Y73C|TP53_uc002gii.1_Missense_Mutation_p.Y73C|TP53_uc010cnh.1_Missense_Mutation_p.Y205C|TP53_uc010cni.1_Missense_Mutation_p.Y205C|TP53_uc002gij.2_Missense_Mutation_p.Y205C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112C|TP53_uc002gio.2_Missense_Mutation_p.Y73C|TP53_uc010vug.1_Missense_Mutation_p.Y166C NM_001126112 NP_001119584 STAT3 6774 broad.mit.edu 37 17 40490499 40490499 + Intron SNP G T T 2011-2300:2012-321-T g.chr17:40490499G>T uc002hzl.1 - STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron NM_139276 NP_644805 SLC16A3 9123 broad.mit.edu 37 17 80212854 80212854 + Intron SNP C G G 2011-2300:2012-321-T g.chr17:80212854C>G uc002kee.2 + CSNK1D_uc002kef.2_Intron|CSNK1D_uc002kei.2_Intron|CSNK1D_uc002kej.2_Intron|CSNK1D_uc010wvj.1_Intron|CSNK1D_uc002keh.2_5'Flank|CSNK1D_uc010dim.1_5'Flank NM_004207 NP_004198 DOK6 220164 broad.mit.edu 37 18 67365577 67365577 + Intron SNP G A A rs7241894 by1000genomes 2011-2300:2012-321-T g.chr18:67365577G>A uc002lkl.2 + NM_152721 NP_689934 KEAP1 9817 broad.mit.edu 37 19 10610154 10610154 + Missense_Mutation SNP C T T 2011-2300:2012-321-T g.chr19:10610154C>T uc002moq.1 - 2 712 c.556G>A c.(556-558)GGC>AGC p.G186S KEAP1_uc002mor.1_Missense_Mutation_p.G186S NM_012289 NP_036421 CACNG7 59284 broad.mit.edu 37 19 54424256 54424256 + Intron SNP G C C 2011-2300:2012-321-T g.chr19:54424256G>C uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 APOB 338 broad.mit.edu 37 2 21267314 21267314 + 5'Flank SNP C T T 2011-2300:2012-321-T g.chr2:21267314C>T uc002red.2 - NM_000384 NP_000375 SLC3A1 6519 broad.mit.edu 37 2 44513714 44513714 + Intron SNP C T T rs74682360 by1000genomes 2011-2300:2012-321-T g.chr2:44513714C>T uc002ruc.3 + SLC3A1_uc002rty.2_Intron|SLC3A1_uc002rtz.2_Intron|SLC3A1_uc002rua.2_Intron|SLC3A1_uc002rub.2_Intron|SLC3A1_uc002rud.3_Intron NM_000341 NP_000332 FANCL 55120 broad.mit.edu 37 2 58425957 58425957 + Intron SNP G T T 2011-2300:2012-321-T g.chr2:58425957G>T uc002rzw.3 - FANCL_uc002rzx.3_Intron|FANCL_uc010fce.2_Intron|FANCL_uc010fcf.1_Intron NM_018062 NP_060532 RMND5A 64795 broad.mit.edu 37 2 87633651 87633651 + Intron SNP C A A 2011-2300:2012-321-T g.chr2:87633651C>A uc002srs.3 + MAP2 4133 broad.mit.edu 37 2 210561188 210561188 + Intron SNP A G G 2011-2300:2012-321-T g.chr2:210561188A>G uc002vde.1 + MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Intron NM_002374 NP_002365 TAF4 6874 broad.mit.edu 37 20 60561559 60561559 + Intron SNP T C C 2011-2300:2012-321-T g.chr20:60561559T>C uc002ybs.2 - NM_003185 NP_003176 BAGE2 85319 broad.mit.edu 37 21 11021274 11021274 + Intron SNP G A A rs4627671 2011-2300:2012-321-T g.chr21:11021274G>A uc002yit.1 - TPTE_uc002yis.1_Intron NM_182482 NP_872288 TTLL8 164714 broad.mit.edu 37 22 50467744 50467744 + Intron SNP G A A 2011-2300:2012-321-T g.chr22:50467744G>A uc011ark.1 - NM_001080447 NP_001073916 TUBGCP6 85378 broad.mit.edu 37 22 50673692 50673692 + Intron SNP C T T rs2341369 by1000genomes 2011-2300:2012-321-T g.chr22:50673692C>T uc003bkb.1 - TUBGCP6_uc010har.1_Intron|TUBGCP6_uc010has.1_Intron NM_020461 NP_065194 SI 6476 broad.mit.edu 37 3 164772957 164772957 + Intron SNP C T T rs9290256 by1000genomes 2011-2300:2012-321-T g.chr3:164772957C>T uc003fei.2 - NM_001041 NP_001032 SI 6476 broad.mit.edu 37 3 164796343 164796343 + 5'Flank SNP T C C rs7629658 by1000genomes 2011-2300:2012-321-T g.chr3:164796343T>C uc003fei.2 - NM_001041 NP_001032 LPP 4026 broad.mit.edu 37 3 187930770 187930770 + 5'UTR SNP C T T 2011-2300:2012-321-T g.chr3:187930770C>T uc003frs.1 + 1 LPP_uc011bsg.1_Intron NM_005578 NP_005569 WHSC1 7468 broad.mit.edu 37 4 1944204 1944204 + Intron SNP A G G 2011-2300:2012-321-T g.chr4:1944204A>G uc003gdz.3 + WHSC1_uc003geb.3_Intron|WHSC1_uc003gec.3_Intron|WHSC1_uc003ged.3_Intron|WHSC1_uc003gee.3_Intron|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Intron|WHSC1_uc003gdy.1_3'UTR|WHSC1_uc010icd.1_3'UTR|WHSC1_uc003gea.1_3'UTR|WHSC1_uc010ice.1_3'UTR|WHSC1_uc003geh.1_3'UTR NM_001042424 NP_001035889 WHSC1 7468 broad.mit.edu 37 4 1962765 1962765 + Missense_Mutation SNP G A A 2011-2300:2012-321-T g.chr4:1962765G>A uc003gdz.3 + 18 3435 c.3259G>A c.(3259-3261)GAA>AAA p.E1087K WHSC1_uc003geb.3_Missense_Mutation_p.E1087K|WHSC1_uc003gec.3_Missense_Mutation_p.E1087K|WHSC1_uc003ged.3_Missense_Mutation_p.E1087K|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.E306K|WHSC1_uc011bvh.1_Missense_Mutation_p.E148K|WHSC1_uc010icf.2_Missense_Mutation_p.E435K NM_001042424 NP_001035889 INPP4B 8821 broad.mit.edu 37 4 143114329 143114329 + Silent SNP G A A 2011-2300:2012-321-T g.chr4:143114329G>A uc003iix.3 - 16 1687 c.1092C>T c.(1090-1092)ATC>ATT p.I364I INPP4B_uc003iiw.3_Silent_p.I364I|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.I179I|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.I235I NM_003866 NP_003857 MEF2C 4208 broad.mit.edu 37 5 88057119 88057119 + Silent SNP G A A 2011-2300:2012-321-T g.chr5:88057119G>A uc003kjj.2 - 4 958 c.285C>T c.(283-285)GGC>GGT p.G95G MEF2C_uc003kji.2_Silent_p.G95G|MEF2C_uc003kjk.2_Silent_p.G95G|MEF2C_uc003kjm.2_Intron|MEF2C_uc003kjl.2_Silent_p.G95G NM_002397 NP_002388 HBS1L 10767 broad.mit.edu 37 6 135307850 135307850 + Intron SNP C T T 2011-2300:2012-321-T g.chr6:135307850C>T uc003qez.2 - HBS1L_uc003qey.2_Intron|HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Intron|HBS1L_uc011eda.1_Intron NM_006620 NP_006611 SNX16 64089 broad.mit.edu 37 8 82754703 82754703 + 5'Flank SNP C G G 2011-2300:2012-321-T g.chr8:82754703C>G uc011lft.1 - SNX16_uc003ycn.2_5'Flank|SNX16_uc003yco.2_5'Flank NM_022133 NP_071416 ZFP41 286128 broad.mit.edu 37 8 144342202 144342202 + 3'UTR SNP G C C 2011-2300:2012-321-T g.chr8:144342202G>C uc003yxw.2 + 3 ZFP41_uc003yxv.2_Intron NM_173832 NP_776193 NOTCH1 4851 broad.mit.edu 37 9 139437859 139437859 + Intron SNP G T T 2011-2300:2012-321-T g.chr9:139437859G>T uc004chz.2 - NM_017617 NP_060087 KIAA2022 340533 broad.mit.edu 37 X 73959365 73959365 + Intron SNP G A A 2011-2300:2012-321-T g.chrX:73959365G>A uc004eby.2 - NM_001008537 NP_001008537 PRDM16 63976 broad.mit.edu 37 1 3186141 3186141 + Intron SNP C T T rs140793355 by1000genomes 2011-2301:2012-320-T g.chr1:3186141C>T uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 KIF1B 23095 broad.mit.edu 37 1 10322054 10322054 + Intron SNP G A A rs4846209 by1000genomes 2011-2301:2012-320-T g.chr1:10322054G>A uc001aqx.3 + KIF1B_uc001aqv.3_Intron|KIF1B_uc001aqw.3_Intron|KIF1B_uc001aqy.2_Intron|KIF1B_uc001aqz.2_Intron|KIF1B_uc001ara.2_Intron|KIF1B_uc001arb.2_Intron|KIF1B_uc009vmt.2_Intron NM_015074 NP_055889 USH2A 7399 broad.mit.edu 37 1 216495400 216495400 + Intron SNP A G G rs2089947 by1000genomes 2011-2301:2012-320-T g.chr1:216495400A>G uc001hku.1 - USH2A_uc001hkv.2_Intron NM_206933 NP_996816 PARP1 142 broad.mit.edu 37 1 226550741 226550741 + Intron SNP C T T rs747659 byFrequency;by1000genomes 2011-2301:2012-320-T g.chr1:226550741C>T uc001hqd.3 - NM_001618 NP_001609 SMYD3 64754 broad.mit.edu 37 1 246139343 246139343 + Intron SNP A G G 2011-2301:2012-320-T g.chr1:246139343A>G uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 CUBN 8029 broad.mit.edu 37 10 16866929 16866929 + 3'UTR SNP G A A rs7085076 by1000genomes 2011-2301:2012-320-T g.chr10:16866929G>A uc001ioo.2 - 67 NM_001081 NP_001072 CUBN 8029 broad.mit.edu 37 10 17032281 17032281 + Intron SNP C T T rs2291521 by1000genomes 2011-2301:2012-320-T g.chr10:17032281C>T uc001ioo.2 - NM_001081 NP_001072 ADAM12 8038 broad.mit.edu 37 10 127843756 127843756 + Intron SNP G A A rs1466360 by1000genomes 2011-2301:2012-320-T g.chr10:127843756G>A uc001ljk.2 - ADAM12_uc010qul.1_Intron|ADAM12_uc001ljm.2_Intron|ADAM12_uc001ljn.2_Intron|ADAM12_uc001ljl.3_Intron NM_003474 NP_003465 ADAM12 8038 broad.mit.edu 37 10 127843921 127843921 + Intron SNP T C C rs1466361 by1000genomes 2011-2301:2012-320-T g.chr10:127843921T>C uc001ljk.2 - ADAM12_uc010qul.1_Intron|ADAM12_uc001ljm.2_Intron|ADAM12_uc001ljn.2_Intron|ADAM12_uc001ljl.3_Intron NM_003474 NP_003465 OR4C15 81309 broad.mit.edu 37 11 55321513 55321513 + 5'Flank SNP T C C rs492480 by1000genomes 2011-2301:2012-320-T g.chr11:55321513T>C uc010rig.1 + NM_001001920 NP_001001920 MAML2 84441 broad.mit.edu 37 11 95724658 95724658 + Intron SNP C G G rs488398 by1000genomes 2011-2301:2012-320-T g.chr11:95724658C>G uc001pfw.1 - NM_032427 NP_115803 B4GALNT3 283358 broad.mit.edu 37 12 622058 622058 + Intron SNP T G G rs28808123 by1000genomes 2011-2301:2012-320-T g.chr12:622058T>G uc001qii.1 + NM_173593 NP_775864 FAM101A 144347 broad.mit.edu 37 12 124787351 124787351 + Intron SNP T C C rs61933972 by1000genomes 2011-2301:2012-320-T g.chr12:124787351T>C uc001ugd.1 + FAM101A_uc001uge.1_Intron NM_181709 NP_859060 DICER1 23405 broad.mit.edu 37 14 95600006 95600006 + Intron SNP G C C rs10139161 by1000genomes 2011-2301:2012-320-T g.chr14:95600006G>C uc001ydw.2 - DICER1_uc001ydv.2_Intron|DICER1_uc001ydx.2_Intron|DICER1_uc001ydz.1_Intron|DICER1_uc001yea.1_Intron|DICER1_uc001yeb.1_Intron|DICER1_uc001yec.1_Intron NM_030621 NP_085124 TLN2 83660 broad.mit.edu 37 15 62967342 62967342 + Intron SNP A G G rs1878785 by1000genomes 2011-2301:2012-320-T g.chr15:62967342A>G uc002alb.3 + NM_015059 NP_055874 LMF1 64788 broad.mit.edu 37 16 999999 999999 + Intron SNP C T T 2011-2301:2012-320-T g.chr16:999999C>T uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 1000018 1000018 + Intron SNP G A A 2011-2301:2012-320-T g.chr16:1000018G>A uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 DNAH3 55567 broad.mit.edu 37 16 20986506 20986506 + Intron SNP C T T rs3115438 by1000genomes 2011-2301:2012-320-T g.chr16:20986506C>T uc010vbe.1 - DNAH3_uc010vbd.1_Intron NM_017539 NP_060009 PRKCB 5579 broad.mit.edu 37 16 24135112 24135112 + Intron SNP T C C rs1013316 by1000genomes 2011-2301:2012-320-T g.chr16:24135112T>C uc002dmd.2 + PRKCB_uc002dme.2_Intron NM_212535 NP_997700 CDH13 1012 broad.mit.edu 37 16 83691917 83691917 + Intron SNP G A A 2011-2301:2012-320-T g.chr16:83691917G>A uc002fgx.2 + CDH13_uc010vns.1_Intron|CDH13_uc010vnt.1_Intron|CDH13_uc010vnu.1_Intron NM_001257 NP_001248 TP53 7157 broad.mit.edu 37 17 7579307 7579307 + Intron SNP C A A 2011-2301:2012-320-T g.chr17:7579307C>A uc002gim.2 - TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Intron|TP53_uc010cni.1_Intron|TP53_uc002gij.2_Intron|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Intron NM_001126112 NP_001119584 TP53 7157 broad.mit.edu 37 17 7579472 7579472 + Missense_Mutation SNP G C C rs1042522 byFrequency;by1000genomes 2011-2301:2012-320-T g.chr17:7579472G>C uc002gim.2 - 4 409 c.215C>G c.(214-216)CCC>CGC p.P72R TP53_uc002gig.1_Missense_Mutation_p.P72R|TP53_uc002gih.2_Missense_Mutation_p.P72R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.P72R|TP53_uc010cni.1_Missense_Mutation_p.P72R|TP53_uc002gij.2_Missense_Mutation_p.P72R|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.P33R|TP53_uc010cnk.1_Missense_Mutation_p.P87R NM_001126112 NP_001119584 PIK3R6 146850 broad.mit.edu 37 17 8739821 8739821 + Intron SNP G C C rs12948724 by1000genomes 2011-2301:2012-320-T g.chr17:8739821G>C uc002glq.1 - PIK3R6_uc002glr.1_Intron|PIK3R6_uc002gls.1_Intron NM_001010855 NP_001010855 PGAP3 93210 broad.mit.edu 37 17 37843859 37843859 + Intron SNP G A A rs2517956 by1000genomes 2011-2301:2012-320-T g.chr17:37843859G>A uc002hsj.2 - ERBB2_uc002hsm.2_5'Flank|ERBB2_uc010cwa.2_5'Flank|PGAP3_uc010cvy.2_5'Flank|PGAP3_uc010wej.1_Intron|PGAP3_uc002hsk.2_Intron|PGAP3_uc010cvz.2_Intron|ERBB2_uc002hsl.2_5'Flank NM_033419 NP_219487 BRCA1 672 broad.mit.edu 37 17 41219780 41219780 + Intron SNP T C C rs8176234 by1000genomes 2011-2301:2012-320-T g.chr17:41219780T>C uc002icq.2 - BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Intron|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Intron|BRCA1_uc002ict.2_Intron|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron NM_007294 NP_009225 BRCA1 672 broad.mit.edu 37 17 41276247 41276247 + Intron SNP A G G rs3765640 by1000genomes 2011-2301:2012-320-T g.chr17:41276247A>G uc002icq.2 - BRCA1_uc010whp.1_Intron|NBR2_uc002idf.2_5'Flank|NBR2_uc010czb.1_5'Flank|NBR2_uc002idg.2_5'Flank|NBR2_uc002idh.2_5'Flank|BRCA1_uc010whl.1_5'Flank|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Intron|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Intron|BRCA1_uc002ict.2_Intron|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_5'Flank|BRCA1_uc010cyy.1_Intron|BRCA1_uc010whs.1_Intron|BRCA1_uc010cyz.2_Intron|BRCA1_uc010cza.2_Intron|BRCA1_uc010wht.1_Intron NM_007294 NP_009225 PRKCA 5578 broad.mit.edu 37 17 64795614 64795614 + Intron SNP G A A 2011-2301:2012-320-T g.chr17:64795614G>A uc002jfp.1 + NM_002737 NP_002728 KIAA1468 57614 broad.mit.edu 37 18 59925938 59925938 + Intron SNP G A A rs3752093 by1000genomes 2011-2301:2012-320-T g.chr18:59925938G>A uc002lil.2 + KIAA1468_uc002lik.1_Intron|KIAA1468_uc010xel.1_Intron|KIAA1468_uc002lim.2_Intron NM_020854 NP_065905 DSEL 92126 broad.mit.edu 37 18 65182392 65182392 + 5'UTR SNP T C C rs2291172 by1000genomes 2011-2301:2012-320-T g.chr18:65182392T>C uc002lke.1 - 2 NM_032160 NP_115536 MYO1F 4542 broad.mit.edu 37 19 8608724 8608724 + Intron SNP G C C 2011-2301:2012-320-T g.chr19:8608724G>C uc002mkg.2 - NM_012335 NP_036467 NOTCH3 4854 broad.mit.edu 37 19 15292366 15292366 + Intron SNP C T T rs11669982 by1000genomes 2011-2301:2012-320-T g.chr19:15292366C>T uc002nan.2 - NOTCH3_uc002nao.1_Intron NM_000435 NP_000426 LILRB2 10288 broad.mit.edu 37 19 54785013 54785013 + 5'UTR SNP T A A 2011-2301:2012-320-T g.chr19:54785013T>A uc002qfb.2 - 1 LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_5'Flank|LILRB2_uc010erj.2_5'Flank|LILRB2_uc002qfc.2_5'UTR|LILRB2_uc010yet.1_5'UTR|LILRB2_uc010yeu.1_5'Flank NM_005874 NP_005865 RMND5A 64795 broad.mit.edu 37 2 87645997 87645997 + Intron SNP A G G 2011-2301:2012-320-T g.chr2:87645997A>G uc002srs.3 + LRP1B 53353 broad.mit.edu 37 2 141260754 141260754 + Intron SNP G A A rs76928339 by1000genomes 2011-2301:2012-320-T g.chr2:141260754G>A uc002tvj.1 - NM_018557 NP_061027 CHRNA4 1137 broad.mit.edu 37 20 61997581 61997581 + Intron SNP A G G rs66778029 2011-2301:2012-320-T g.chr20:61997581A>G uc002yet.1 - NM_000744 NP_000735 MICAL3 57553 broad.mit.edu 37 22 18359888 18359888 + Intron SNP G C C 2011-2301:2012-320-T g.chr22:18359888G>C uc002zng.3 - MICAL3_uc011agl.1_Intron|MICAL3_uc002znh.2_Intron|MICAL3_uc002znj.1_Intron|MICAL3_uc002znk.1_Intron|MICAL3_uc002znl.1_Intron|MICAL3_uc002znm.2_Intron|MICAL3_uc010grf.2_Intron NM_015241 NP_056056 PLEKHG4B 153478 broad.mit.edu 37 5 172971 172971 + Intron SNP G A A rs6868964 by1000genomes 2011-2301:2012-320-T g.chr5:172971G>A uc003jak.2 + NM_052909 NP_443141 NUP43 348995 broad.mit.edu 37 6 150067675 150067675 + 5'UTR SNP A G G rs10872646 by1000genomes 2011-2301:2012-320-T g.chr6:150067675A>G uc003qmz.2 - 1 NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_5'UTR NM_198887 NP_942590 SYNE1 23345 broad.mit.edu 37 6 152698123 152698123 + Intron SNP C G G 2011-2301:2012-320-T g.chr6:152698123C>G uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kja.1_Intron|SYNE1_uc003qov.2_Intron|SYNE1_uc010kjb.1_Intron NM_182961 NP_892006 SMOC2 64094 broad.mit.edu 37 6 169014404 169014404 + Intron SNP C T T 2011-2301:2012-320-T g.chr6:169014404C>T uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 EGFR 1956 broad.mit.edu 37 7 55086212 55086212 + 5'Flank SNP A C C rs759171 by1000genomes 2011-2301:2012-320-T g.chr7:55086212A>C uc003tqk.2 + EGFR_uc003tqh.2_5'Flank|EGFR_uc003tqi.2_5'Flank|EGFR_uc003tqj.2_5'Flank|EGFR_uc010kzg.1_5'Flank NM_005228 NP_005219 CNTNAP2 26047 broad.mit.edu 37 7 147674912 147674912 + Intron SNP T C C rs2373284 by1000genomes 2011-2301:2012-320-T g.chr7:147674912T>C uc003weu.1 + NM_014141 NP_054860 PTPRN2 5799 broad.mit.edu 37 7 157388157 157388157 + Intron SNP G A A rs75482660 by1000genomes 2011-2301:2012-320-T g.chr7:157388157G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157851370 157851370 + Intron SNP A G G 2011-2301:2012-320-T g.chr7:157851370A>G uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157863833 157863833 + Intron SNP G A A rs138755397 by1000genomes 2011-2301:2012-320-T g.chr7:157863833G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc003wnt.1_5'Flank NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157864218 157864218 + Intron SNP A G G rs115685233 by1000genomes 2011-2301:2012-320-T g.chr7:157864218A>G uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc003wnt.1_5'Flank NM_002847 NP_002838 UBR5 51366 broad.mit.edu 37 8 103297304 103297304 + Intron SNP G C C 2011-2301:2012-320-T g.chr8:103297304G>C uc003ykr.1 - UBR5_uc003yks.1_Intron NM_015902 NP_056986 CSMD3 114788 broad.mit.edu 37 8 113418777 113418778 + Missense_Mutation DNP TC AA AA 2011-2301:2012-320-T g.chr8:113418777_113418778TC>AA uc003ynu.2 - 35 5943_5944 c.5784_5785GA>TT c.(5782-5787)TGGAAT>TGTTAT p.1928_1929WN>CY CSMD3_uc003yns.2_Missense_Mutation_p.1130_1131WN>CY|CSMD3_uc003ynt.2_Missense_Mutation_p.1888_1889WN>CY|CSMD3_uc011lhx.1_Missense_Mutation_p.1824_1825WN>CY NM_198123 NP_937756 ENPP2 5168 broad.mit.edu 37 8 120651087 120651087 + 5'UTR SNP G A A 2011-2301:2012-320-T g.chr8:120651087G>A uc003yot.1 - 1 ENPP2_uc003yos.1_5'UTR|ENPP2_uc010mdd.1_5'UTR NM_001040092 NP_001035181 AP2A2 161 broad.mit.edu 37 11 991068 991068 + Intron SNP G T T rs112707551 2011-2302:2012-314-T g.chr11:991068G>T uc001lss.2 + AP2A2_uc001lst.1_Intron|AP2A2_uc009yco.1_Intron|AP2A2_uc009ycq.1_5'Flank NM_012305 NP_036437 MACROD1 28992 broad.mit.edu 37 11 63778169 63778169 + Intron SNP A G G rs35492216 by1000genomes 2011-2302:2012-314-T g.chr11:63778169A>G uc001nyh.2 - NM_014067 NP_054786 TPCN2 219931 broad.mit.edu 37 11 68843990 68843990 + Intron SNP G A A rs35306535 by1000genomes 2011-2302:2012-314-T g.chr11:68843990G>A uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_Intron NM_139075 NP_620714 ABCA12 26154 broad.mit.edu 37 2 215868978 215868978 + Missense_Mutation SNP C T T rs146002078 byFrequency 2011-2302:2012-314-T g.chr2:215868978C>T uc002vew.2 - 20 2858 c.2638G>A c.(2638-2640)GTG>ATG p.V880M ABCA12_uc002vev.2_Missense_Mutation_p.V562M|ABCA12_uc010zjn.1_Translation_Start_Site NM_173076 NP_775099 MLF1 4291 broad.mit.edu 37 3 158310153 158310153 + Intron SNP A G G rs6771248 by1000genomes 2011-2302:2012-314-T g.chr3:158310153A>G uc003fcb.2 + MLF1_uc003fbz.2_Intron|MLF1_uc003fca.2_Intron|MLF1_uc003fbx.2_Intron|MLF1_uc003fcc.2_Intron|MLF1_uc003fby.2_Intron|MLF1_uc010hvx.2_Intron NM_022443 NP_071888 DNAH5 1767 broad.mit.edu 37 5 13850739 13850739 + Intron SNP T A A rs4701988 by1000genomes 2011-2302:2012-314-T g.chr5:13850739T>A uc003jfd.2 - NM_001369 NP_001360 DLGAP2 9228 broad.mit.edu 37 8 1571574 1571574 + Intron SNP C T T rs34951699 by1000genomes 2011-2302:2012-314-T g.chr8:1571574C>T uc003wpl.2 + DLGAP2_uc003wpm.2_Intron|uc003wpn.1_5'Flank NM_004745 NP_004736 DPYS 1807 broad.mit.edu 37 8 105463593 105463593 + Missense_Mutation SNP C T T 2011-2302:2012-314-T g.chr8:105463593C>T uc003yly.3 - 2 433 c.304G>A c.(304-306)GCC>ACC p.A102T NM_001385 NP_001376 BAI1 575 broad.mit.edu 37 8 143597744 143597744 + Intron SNP G A A rs35665724 by1000genomes 2011-2302:2012-314-T g.chr8:143597744G>A uc003ywm.2 + NM_001702 NP_001693 PIK3CD 5293 broad.mit.edu 37 1 9711487 9711487 + 5'Flank SNP T C C rs7518793 by1000genomes 2011-2303:2012-1323-T g.chr1:9711487T>C uc001aqb.3 + PIK3CD_uc001aqa.2_5'Flank NM_005026 NP_005017 PIK3CD 5293 broad.mit.edu 37 1 9711642 9711642 + 5'Flank SNP A G G rs7516138 by1000genomes 2011-2303:2012-1323-T g.chr1:9711642A>G uc001aqb.3 + PIK3CD_uc001aqa.2_5'Flank NM_005026 NP_005017 PIK3CD 5293 broad.mit.edu 37 1 9711674 9711674 + 5'Flank SNP A G G rs7516214 by1000genomes 2011-2303:2012-1323-T g.chr1:9711674A>G uc001aqb.3 + PIK3CD_uc001aqa.2_5'Flank NM_005026 NP_005017 MCOLN2 255231 broad.mit.edu 37 1 85397286 85397286 + Intron SNP G C C rs34793286 by1000genomes 2011-2303:2012-1323-T g.chr1:85397286G>C uc001dkm.2 - MCOLN2_uc001dkn.2_Intron NM_153259 NP_694991 NOS1AP 9722 broad.mit.edu 37 1 162332521 162332521 + Intron SNP T A A rs17428733 by1000genomes 2011-2303:2012-1323-T g.chr1:162332521T>A uc001gbv.2 + NOS1AP_uc010pks.1_Intron|NOS1AP_uc001gbw.2_Intron|NOS1AP_uc009wut.1_5'Flank NM_014697 NP_055512 C1orf125 126859 broad.mit.edu 37 1 179497440 179497440 + Intron SNP T A A 2011-2303:2012-1323-T g.chr1:179497440T>A uc001gmo.2 + C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_Intron NM_144696 NP_653297 ADARB2 105 broad.mit.edu 37 10 1369508 1369508 + Intron SNP A G G 2011-2303:2012-1323-T g.chr10:1369508A>G uc009xhq.2 - NM_018702 NP_061172 MUC2 4583 broad.mit.edu 37 11 1085304 1085304 + Intron SNP C A A rs137992395 by1000genomes 2011-2303:2012-1323-T g.chr11:1085304C>A uc001lsx.1 + NM_002457 NP_002448 MTA2 9219 broad.mit.edu 37 11 62362293 62362293 + Intron SNP A G G rs11231154 by1000genomes 2011-2303:2012-1323-T g.chr11:62362293A>G uc001ntq.1 - MTA2_uc010rlx.1_Intron NM_004739 NP_004730 MCF2L 23263 broad.mit.edu 37 13 113667187 113667187 + Intron SNP A T T rs9577191 2011-2303:2012-1323-T g.chr13:113667187A>T uc001vsu.2 + MCF2L_uc001vsq.2_Intron|MCF2L_uc010tjr.1_Intron|MCF2L_uc001vsr.2_Intron|MCF2L_uc001vss.3_Intron|MCF2L_uc010tjs.1_Intron NM_001112732 NP_001106203 SYNE2 23224 broad.mit.edu 37 14 64548132 64548132 + Intron SNP C G G rs17101624 by1000genomes 2011-2303:2012-1323-T g.chr14:64548132C>G uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc010apx.1_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64568636 64568636 + Intron SNP G T T rs77622144 by1000genomes 2011-2303:2012-1323-T g.chr14:64568636G>T uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc010apz.1_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64568832 64568832 + Intron SNP C T T rs78468258 by1000genomes 2011-2303:2012-1323-T g.chr14:64568832C>T uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc010apz.1_Intron NM_015180 NP_055995 INF2 64423 broad.mit.edu 37 14 105239192 105239192 + Intron SNP T C C rs2494732 byFrequency;by1000genomes 2011-2303:2012-1323-T g.chr14:105239192T>C uc010tyi.1 + AKT1_uc001ypk.2_Intron|AKT1_uc001ypl.2_Intron|AKT1_uc010axa.2_Intron|AKT1_uc001ypm.2_Intron|AKT1_uc001ypn.2_Intron|AKT1_uc001ypj.2_5'Flank|AKT1_uc010tyk.1_Intron NM_022489 NP_071934 ZNF276 92822 broad.mit.edu 37 16 89805261 89805261 + 3'UTR SNP A G G rs1800359 byFrequency;by1000genomes 2011-2303:2012-1323-T g.chr16:89805261A>G uc002fos.3 + 11 ZNF276_uc010ciq.2_3'UTR|ZNF276_uc002foq.3_3'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_3'UTR|ZNF276_uc010cis.2_3'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_3'UTR|FANCA_uc002fou.1_Intron|FANCA_uc010vpn.1_Intron NM_001113525 NP_001106997 COL1A1 1277 broad.mit.edu 37 17 48263903 48263903 + Intron SNP A G G rs2277632 by1000genomes 2011-2303:2012-1323-T g.chr17:48263903A>G uc002iqm.2 - NM_000088 NP_000079 MXRA7 439921 broad.mit.edu 37 17 74702510 74702510 + Intron SNP A G G rs62085152 by1000genomes 2011-2303:2012-1323-T g.chr17:74702510A>G uc002jsk.1 - MXRA7_uc002jsl.2_Intron|MXRA7_uc002jsm.2_Intron NM_001008528 NP_001008528 LAMA1 284217 broad.mit.edu 37 18 6992509 6992509 + Intron SNP C T T rs7243349 by1000genomes 2011-2303:2012-1323-T g.chr18:6992509C>T uc002knm.2 - LAMA1_uc010wzj.1_Intron NM_005559 NP_005550 ZNF813 126017 broad.mit.edu 37 19 54006848 54006848 + Intron SNP G C C rs11880610 by1000genomes 2011-2303:2012-1323-T g.chr19:54006848G>C uc010eqq.1 + uc002qbv.2_RNA LILRB2 10288 broad.mit.edu 37 19 54784898 54784898 + 5'UTR SNP A C C rs13345054 by1000genomes 2011-2303:2012-1323-T g.chr19:54784898A>C uc002qfb.2 - 1 LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_5'Flank|LILRB2_uc010erj.2_5'Flank|LILRB2_uc002qfc.2_5'UTR|LILRB2_uc010yet.1_5'UTR|LILRB2_uc010yeu.1_5'Flank NM_005874 NP_005865 LILRB2 10288 broad.mit.edu 37 19 54784908 54784908 + Translation_Start_Site SNP C A A rs13345069 by1000genomes 2011-2303:2012-1323-T g.chr19:54784908C>A uc002qfb.2 - 1 126 c.-140G>T c.(-142--138)GAGGC>GATGC LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_5'Flank|LILRB2_uc010erj.2_5'Flank|LILRB2_uc002qfc.2_Translation_Start_Site|LILRB2_uc010yet.1_Translation_Start_Site|LILRB2_uc010yeu.1_5'Flank NM_005874 NP_005865 LRP1B 53353 broad.mit.edu 37 2 141299317 141299317 + Intron SNP A G G rs9287535 by1000genomes 2011-2303:2012-1323-T g.chr2:141299317A>G uc002tvj.1 - NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 142889154 142889154 + 5'UTR SNP C A A rs10211565 by1000genomes 2011-2303:2012-1323-T g.chr2:142889154C>A uc002tvj.1 - 1 LRP1B_uc010fnl.1_5'UTR NM_018557 NP_061027 TTN 7273 broad.mit.edu 37 2 179588272 179588272 + Silent SNP G T T 2011-2303:2012-1323-T g.chr2:179588272G>T uc010zfg.1 - 71 18047 c.17823C>A c.(17821-17823)ATC>ATA p.I5941I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.I2602I NM_133378 NP_596869 RIPK4 54101 broad.mit.edu 37 21 43166626 43166626 + Intron SNP T G G rs8133138 by1000genomes 2011-2303:2012-1323-T g.chr21:43166626T>G uc002yzn.1 - NM_020639 NP_065690 C21orf56 84221 broad.mit.edu 37 21 47603413 47603413 + 5'UTR SNP A G G rs56293013 by1000genomes 2011-2303:2012-1323-T g.chr21:47603413A>G uc011afu.1 - 2 C21orf56_uc002zii.2_Intron NM_001142854 NP_001136326 XRCC6 2547 broad.mit.edu 37 22 42017264 42017264 + 5'Flank SNP A G G rs132770 by1000genomes 2011-2303:2012-1323-T g.chr22:42017264A>G uc003bao.1 + PPPDE2_uc003ban.1_5'Flank|PPPDE2_uc011apb.1_5'Flank|XRCC6_uc003bap.1_5'Flank|XRCC6_uc011apc.1_5'Flank|XRCC6_uc003baq.1_5'Flank|XRCC6_uc003bar.1_5'Flank|XRCC6_uc003bas.1_5'Flank NM_001469 NP_001460 XPC 7508 broad.mit.edu 37 3 14190268 14190268 + Intron SNP G C C rs2470353 byFrequency;by1000genomes 2011-2303:2012-1323-T g.chr3:14190268G>C uc011ave.1 - XPC_uc011avf.1_Intron|XPC_uc011avg.1_Intron NM_004628 NP_004619 IFT122 55764 broad.mit.edu 37 3 129235568 129235568 + Intron SNP C G G rs142458922 by1000genomes 2011-2303:2012-1323-T g.chr3:129235568C>G uc003emm.2 + IFT122_uc003eml.2_Intron|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Intron|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Intron NM_052989 NP_443715 ZIC4 84107 broad.mit.edu 37 3 147109829 147109829 + Intron SNP T C C rs58262807 by1000genomes 2011-2303:2012-1323-T g.chr3:147109829T>C uc003ewd.1 - ZIC4_uc003ewc.1_Intron|ZIC4_uc011bno.1_Intron NM_032153 NP_115529 PIK3CA 5290 broad.mit.edu 37 3 178938866 178938866 + Missense_Mutation SNP A G G 2011-2303:2012-1323-T g.chr3:178938866A>G uc003fjk.2 + 14 2265 c.2108A>G c.(2107-2109)AAT>AGT p.N703S NM_006218 NP_006209 AFAP1 60312 broad.mit.edu 37 4 7800104 7800104 + Intron SNP G A A rs113569350 by1000genomes 2011-2303:2012-1323-T g.chr4:7800104G>A uc003gkg.1 - AFAP1_uc011bwk.1_Intron NM_198595 NP_940997 HLA-G 3135 broad.mit.edu 37 6 29975453 29975453 + Intron SNP C A A rs2240619 2011-2303:2012-1323-T g.chr6:29975453C>A uc011dmb.1 + NCRNA00171_uc011dme.1_Intron|HLA-J_uc003nou.3_Intron|HLA-J_uc003rtl.3_Intron|HLA-J_uc003nov.3_Intron NM_002127 NP_002118 PARK2 5071 broad.mit.edu 37 6 162365101 162365101 + Intron SNP G A A rs111680434 by1000genomes 2011-2303:2012-1323-T g.chr6:162365101G>A uc003qtx.3 - PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Intron|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Intron NM_004562 NP_004553 PARK2 5071 broad.mit.edu 37 6 162365166 162365166 + Intron SNP G A A rs5011907 by1000genomes 2011-2303:2012-1323-T g.chr6:162365166G>A uc003qtx.3 - PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Intron|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Intron NM_004562 NP_004553 PMS2 5395 broad.mit.edu 37 7 6048845 6048845 + 5'Flank SNP A G G rs2302336 by1000genomes 2011-2303:2012-1323-T g.chr7:6048845A>G uc003spl.2 - PMS2_uc003spk.2_5'Flank|PMS2_uc011jwl.1_5'Flank|PMS2_uc010ktg.2_5'Flank|PMS2_uc010kte.2_5'Flank|PMS2_uc010ktf.1_5'Flank|AIMP2_uc003spo.2_5'Flank NM_000535 NP_000526 PLEC 5339 broad.mit.edu 37 8 145010305 145010305 + Intron SNP A G G rs6988767 by1000genomes 2011-2303:2012-1323-T g.chr8:145010305A>G uc003zaf.1 - PLEC_uc003zab.1_Intron|PLEC_uc003zac.1_Intron|PLEC_uc003zad.2_Intron|PLEC_uc003zae.1_Intron|PLEC_uc003zag.1_Intron|PLEC_uc003zah.2_Intron|PLEC_uc003zaj.2_Intron NM_201380 NP_958782 PLEC 5339 broad.mit.edu 37 8 145012777 145012777 + Intron SNP C G G rs7823393 by1000genomes 2011-2303:2012-1323-T g.chr8:145012777C>G uc003zaf.1 - PLEC_uc003zab.1_Intron|PLEC_uc003zac.1_Intron|PLEC_uc003zad.2_Intron|PLEC_uc003zae.1_Intron|PLEC_uc003zag.1_Intron|PLEC_uc003zah.2_Intron|PLEC_uc003zaj.2_Intron NM_201380 NP_958782 PLEC 5339 broad.mit.edu 37 8 145025298 145025298 + 5'Flank SNP C T T rs34952598 2011-2303:2012-1323-T g.chr8:145025298C>T uc003zaf.1 - PLEC_uc003zag.1_Intron|PLEC_uc003zah.2_Intron|PLEC_uc003zaj.2_Intron NM_201380 NP_958782 ENTPD2 954 broad.mit.edu 37 9 139944496 139944496 + Intron SNP T C C rs10870169 by1000genomes 2011-2303:2012-1323-T g.chr9:139944496T>C uc004ckw.1 - ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Intron NM_203468 NP_982293 ENTPD2 954 broad.mit.edu 37 9 139944509 139944509 + Intron SNP T C C rs10735661 by1000genomes 2011-2303:2012-1323-T g.chr9:139944509T>C uc004ckw.1 - ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Intron NM_203468 NP_982293 ENTPD2 954 broad.mit.edu 37 9 139944588 139944588 + Intron SNP T C C rs7869655 by1000genomes 2011-2303:2012-1323-T g.chr9:139944588T>C uc004ckw.1 - ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Intron NM_203468 NP_982293 NOTCH2 4853 broad.mit.edu 37 1 120478161 120478161 + Nonsense_Mutation SNP G A A 2011-2304:2012-319-T g.chr1:120478161G>A uc001eik.2 - 22 3845 c.3589C>T c.(3589-3591)CAG>TAG p.Q1197* NOTCH2_uc001eil.2_Nonsense_Mutation_p.Q1197* NM_024408 NP_077719 HRAS 3265 broad.mit.edu 37 11 534285 534285 + Missense_Mutation SNP C A A rs104894226 2011-2304:2012-319-T g.chr11:534285C>A uc001lpv.2 - 2 226 c.38G>T c.(37-39)GGT>GTT p.G13V HRAS_uc010qvw.1_Missense_Mutation_p.G13V|HRAS_uc010qvx.1_Missense_Mutation_p.G13V|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 TDRD3 81550 broad.mit.edu 37 13 61034465 61034465 + Intron SNP T C C 2011-2304:2012-319-T g.chr13:61034465T>C uc001via.2 + TDRD3_uc010aef.2_Intron|TDRD3_uc001vhz.3_Intron|TDRD3_uc010aeg.2_Intron|TDRD3_uc001vib.3_Intron NM_030794 NP_110421 PHKB 5257 broad.mit.edu 37 16 47545625 47545625 + Missense_Mutation SNP T A A 2011-2304:2012-319-T g.chr16:47545625T>A uc002eev.3 + 5 507 c.455T>A c.(454-456)GTT>GAT p.V152D PHKB_uc010vgi.1_Missense_Mutation_p.V145D|PHKB_uc002eeu.3_Missense_Mutation_p.V145D NM_000293 NP_000284 ABCA9 10350 broad.mit.edu 37 17 67057608 67057608 + 5'Flank SNP G A A 2011-2304:2012-319-T g.chr17:67057608G>A uc002jhu.2 - ABCA9_uc002jhv.2_5'Flank NM_080283 NP_525022 ABCA9 10350 broad.mit.edu 37 17 67057631 67057631 + 5'Flank SNP C T T 2011-2304:2012-319-T g.chr17:67057631C>T uc002jhu.2 - ABCA9_uc002jhv.2_5'Flank NM_080283 NP_525022 CASP8 841 broad.mit.edu 37 2 202141549 202141549 + Splice_Site SNP G A A 2011-2304:2012-319-T g.chr2:202141549G>A uc002uxr.1 + 8 870 c.661_splice c.e8-1 p.T221_splice CASP8_uc002uxo.1_Splice_Site_p.D199_splice|CASP8_uc002uxp.1_Splice_Site_p.T238_splice|CASP8_uc002uxq.1_Splice_Site_p.T206_splice|CASP8_uc002uxt.1_Splice_Site_p.T280_splice|CASP8_uc002uxu.1_Splice_Site|CASP8_uc002uxv.1_Splice_Site_p.T206_splice|CASP8_uc002uxw.1_Splice_Site_p.T206_splice|CASP8_uc002uxy.1_Splice_Site_p.T221_splice|CASP8_uc002uxx.1_Splice_Site_p.T206_splice|CASP8_uc010ftf.2_Intron|CASP8_uc010fte.1_Splice_Site_p.D81_splice NM_033355 NP_203519 ATIC 471 broad.mit.edu 37 2 216214428 216214428 + 3'UTR SNP C T T 2011-2304:2012-319-T g.chr2:216214428C>T uc002vex.3 + 16 ATIC_uc010zjo.1_3'UTR|ATIC_uc002vey.3_3'UTR NM_004044 NP_004035 C20orf26 26074 broad.mit.edu 37 20 20336837 20336837 + Intron SNP G A A 2011-2304:2012-319-T g.chr20:20336837G>A uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 NCOA3 8202 broad.mit.edu 37 20 46279897 46279897 + Nonsense_Mutation SNP C T T 2011-2304:2012-319-T g.chr20:46279897C>T uc002xtk.2 + 20 4028 c.3823C>T c.(3823-3825)CAG>TAG p.Q1275* NCOA3_uc010ght.1_Nonsense_Mutation_p.Q1266*|NCOA3_uc002xtl.2_Nonsense_Mutation_p.Q1271*|NCOA3_uc002xtm.2_Nonsense_Mutation_p.Q1270*|NCOA3_uc002xtn.2_Nonsense_Mutation_p.Q1274*|NCOA3_uc010zyc.1_Nonsense_Mutation_p.Q1070* NM_181659 NP_858045 FAT1 2195 broad.mit.edu 37 4 187628298 187628298 + Missense_Mutation SNP A G G 2011-2304:2012-319-T g.chr4:187628298A>G uc003izf.2 - 2 2872 c.2684T>C c.(2683-2685)ATT>ACT p.I895T FAT1_uc010iso.1_Missense_Mutation_p.I895T NM_005245 NP_005236 WRN 7486 broad.mit.edu 37 8 31014896 31014896 + Missense_Mutation SNP G C C 2011-2304:2012-319-T g.chr8:31014896G>C uc003xio.3 + 33 4620 c.3832G>C c.(3832-3834)GAG>CAG p.E1278Q WRN_uc010lvk.2_Missense_Mutation_p.E745Q NM_000553 NP_000544 SCNN1D 6339 broad.mit.edu 37 1 1223780 1223780 + Intron SNP G C C 2011-2305:2012-313-T g.chr1:1223780G>C uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 ABL2 27 broad.mit.edu 37 1 179077568 179077568 + Missense_Mutation SNP T C C 2011-2305:2012-313-T g.chr1:179077568T>C uc001gmj.3 - 12 3121 c.2834A>G c.(2833-2835)GAC>GGC p.D945G ABL2_uc010pnf.1_Missense_Mutation_p.D842G|ABL2_uc010png.1_Missense_Mutation_p.D821G|ABL2_uc010pnh.1_Missense_Mutation_p.D924G|ABL2_uc001gmg.3_Missense_Mutation_p.D827G|ABL2_uc001gmi.3_Missense_Mutation_p.D930G|ABL2_uc001gmh.3_Missense_Mutation_p.D909G|ABL2_uc010pne.1_Missense_Mutation_p.D806G NM_007314 NP_009298 RYR2 6262 broad.mit.edu 37 1 237219690 237219690 + Intron SNP G A A 2011-2305:2012-313-T g.chr1:237219690G>A uc001hyl.1 + NM_001035 NP_001026 RYR2 6262 broad.mit.edu 37 1 237219731 237219731 + Intron SNP T C C rs35966328 2011-2305:2012-313-T g.chr1:237219731T>C uc001hyl.1 + NM_001035 NP_001026 PRDM11 56981 broad.mit.edu 37 11 45246070 45246070 + Missense_Mutation SNP A G G 2011-2305:2012-313-T g.chr11:45246070A>G uc001myo.2 + 8 1396 c.1147A>G c.(1147-1149)ATG>GTG p.M383V NM_020229 NP_064614 GPR133 283383 broad.mit.edu 37 12 131613783 131613783 + Intron SNP G C C 2011-2305:2012-313-T g.chr12:131613783G>C uc001uit.3 + GPR133_uc010tbm.1_Intron|GPR133_uc009zyo.2_Intron|GPR133_uc009zyp.2_Intron NM_198827 NP_942122 COL4A1 1282 broad.mit.edu 37 13 110908130 110908130 + Intron SNP G A A 2011-2305:2012-313-T g.chr13:110908130G>A uc001vqw.3 - COL4A1_uc010agl.2_Intron NM_001845 NP_001836 FOXN3 1112 broad.mit.edu 37 14 89828519 89828519 + Intron SNP C T T 2011-2305:2012-313-T g.chr14:89828519C>T uc001xxo.3 - FOXN3_uc001xxn.3_Intron|FOXN3_uc010atk.2_Intron NM_001085471 NP_001078940 WDR25 79446 broad.mit.edu 37 14 100993139 100993139 + Intron SNP C G G rs77172847 2011-2305:2012-313-T g.chr14:100993139C>G uc010avx.2 + WDR25_uc001yhm.2_Intron|WDR25_uc001yhn.2_Intron|WDR25_uc010avy.2_Intron|WDR25_uc001yho.2_Intron NM_001161476 NP_001154948 RAB11FIP3 9727 broad.mit.edu 37 16 544885 544885 + Intron SNP A T T rs8051090 by1000genomes 2011-2305:2012-313-T g.chr16:544885A>T uc002chf.2 + RAB11FIP3_uc010uuf.1_Intron|RAB11FIP3_uc010uug.1_Intron NM_014700 NP_055515 ABR 29 broad.mit.edu 37 17 1022622 1022622 + Intron SNP T A A 2011-2305:2012-313-T g.chr17:1022622T>A uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C T T rs28934576 by1000genomes 2011-2305:2012-313-T g.chr17:7577120C>T uc002gim.2 - 8 1012 c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 STAT3 6774 broad.mit.edu 37 17 40490019 40490019 + Intron SNP T G G rs71367911 2011-2305:2012-313-T g.chr17:40490019T>G uc002hzl.1 - STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron NM_139276 NP_644805 MXRA7 439921 broad.mit.edu 37 17 74702399 74702399 + Intron SNP A G G rs35026044 by1000genomes 2011-2305:2012-313-T g.chr17:74702399A>G uc002jsk.1 - MXRA7_uc002jsl.2_Intron|MXRA7_uc002jsm.2_Intron NM_001008528 NP_001008528 LAMA1 284217 broad.mit.edu 37 18 6992509 6992509 + Intron SNP C T T rs7243349 by1000genomes 2011-2305:2012-313-T g.chr18:6992509C>T uc002knm.2 - LAMA1_uc010wzj.1_Intron NM_005559 NP_005550 MBP 4155 broad.mit.edu 37 18 74749252 74749252 + Intron SNP G A A rs116665438 by1000genomes 2011-2305:2012-313-T g.chr18:74749252G>A uc010xfd.1 - MBP_uc002lmr.2_Intron NM_001025101 NP_001020272 ATP9B 374868 broad.mit.edu 37 18 76906424 76906424 + Intron SNP T C C 2011-2305:2012-313-T g.chr18:76906424T>C uc002lmx.2 + ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Intron|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_Intron NM_198531 NP_940933 TCF3 6929 broad.mit.edu 37 19 1628326 1628326 + Intron SNP A G G 2011-2305:2012-313-T g.chr19:1628326A>G uc002ltr.2 - TCF3_uc002ltt.3_Intron|TCF3_uc002ltq.2_Intron|TCF3_uc002lts.1_Intron NM_003200 NP_003191 ZNF331 55422 broad.mit.edu 37 19 54025201 54025201 + 5'UTR SNP A G G rs8100247 by1000genomes 2011-2305:2012-313-T g.chr19:54025201A>G uc002qbx.1 + 1 ZNF331_uc002qbw.1_RNA|ZNF331_uc002qby.1_5'UTR|ZNF331_uc002qbz.1_5'UTR NM_018555 NP_061025 PXDN 7837 broad.mit.edu 37 2 1707362 1707362 + Intron SNP G A A 2011-2305:2012-313-T g.chr2:1707362G>A uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 C2orf65 130951 broad.mit.edu 37 2 74788359 74788359 + Intron SNP A G G 2011-2305:2012-313-T g.chr2:74788359A>G uc002smy.2 - C2orf65_uc010ysa.1_Intron|C2orf65_uc010ffp.2_Intron|C2orf65_uc002smx.2_Intron NM_138804 NP_620159 PRDM15 63977 broad.mit.edu 37 21 43226450 43226450 + Intron SNP C T T 2011-2305:2012-313-T g.chr21:43226450C>T uc002yzq.1 - PRDM15_uc002yzo.2_Intron|PRDM15_uc002yzp.2_Intron|PRDM15_uc002yzr.1_Intron NM_022115 NP_071398 FANCD2 2177 broad.mit.edu 37 3 10108835 10108835 + Intron SNP T C C rs116962388 by1000genomes 2011-2305:2012-313-T g.chr3:10108835T>C uc003buw.2 + FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron NM_033084 NP_149075 POLQ 10721 broad.mit.edu 37 3 121265176 121265176 + 5'Flank SNP G A A rs3806614 by1000genomes 2011-2305:2012-313-T g.chr3:121265176G>A uc003eee.3 - NM_199420 NP_955452 PIK3CA 5290 broad.mit.edu 37 3 178927974 178927974 + Missense_Mutation SNP G A A 2011-2305:2012-313-T g.chr3:178927974G>A uc003fjk.2 + 8 1409 c.1252G>A c.(1252-1254)GAA>AAA p.E418K NM_006218 NP_006209 TP63 8626 broad.mit.edu 37 3 189349247 189349247 + 5'UTR SNP A T T rs28673064 by1000genomes 2011-2305:2012-313-T g.chr3:189349247A>T uc003fry.2 + 1 TP63_uc003frx.2_5'UTR|TP63_uc003frz.2_5'UTR|TP63_uc010hzc.1_5'UTR NM_003722 NP_003713 TPPP 11076 broad.mit.edu 37 5 691915 691915 + Intron SNP T C C 2011-2305:2012-313-T g.chr5:691915T>C uc003jbh.3 - NM_007030 NP_008961 SLC6A18 348932 broad.mit.edu 37 5 1238508 1238509 + Intron DNP GG CA CA 2011-2305:2012-313-T g.chr5:1238508_1238509GG>CA uc003jby.1 + NM_182632 NP_872438 FAM134B 54463 broad.mit.edu 37 5 16535853 16535853 + Intron SNP A G G rs70938059 2011-2305:2012-313-T g.chr5:16535853A>G uc003jfs.2 - NM_001034850 NP_001030022 PRDM9 56979 broad.mit.edu 37 5 23526853 23526853 + Silent SNP C T T 2011-2305:2012-313-T g.chr5:23526853C>T uc003jgo.2 + 11 1838 c.1656C>T c.(1654-1656)TAC>TAT p.Y552Y NM_020227 NP_064612 TCP10 6953 broad.mit.edu 37 6 167800480 167800480 + 5'Flank SNP G T T 2011-2305:2012-313-T g.chr6:167800480G>T uc003qvv.1 - TCP10_uc003qvu.2_5'Flank|TCP10_uc003qvw.2_5'Flank NM_004610 NP_004601 SMOC2 64094 broad.mit.edu 37 6 169016120 169016120 + Intron SNP C T T 2011-2305:2012-313-T g.chr6:169016120C>T uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 PIK3CG 5294 broad.mit.edu 37 7 106508630 106508630 + Silent SNP G A A 2011-2305:2012-313-T g.chr7:106508630G>A uc003vdv.3 + 2 709 c.624G>A c.(622-624)CCG>CCA p.P208P PIK3CG_uc003vdu.2_Silent_p.P208P|PIK3CG_uc003vdw.2_Silent_p.P208P NM_002649 NP_002640 ARHGEF10 9639 broad.mit.edu 37 8 1787445 1787445 + Intron SNP G A A rs111709184 2011-2305:2012-313-T g.chr8:1787445G>A uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 RB1CC1 9821 broad.mit.edu 37 8 53596373 53596373 + Intron SNP A T T 2011-2305:2012-313-T g.chr8:53596373A>T uc003xre.3 - RB1CC1_uc003xrf.3_Intron NM_014781 NP_055596 PKHD1L1 93035 broad.mit.edu 37 8 110425594 110425594 + Intron SNP G A A rs4604408 by1000genomes 2011-2305:2012-313-T g.chr8:110425594G>A uc003yne.2 + NM_177531 NP_803875 CDKN2A 1029 broad.mit.edu 37 9 21968242 21968242 + Intron SNP C T T 2011-2305:2012-313-T g.chr9:21968242C>T uc003zpk.2 - MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Intron|CDKN2A_uc010miu.2_Intron|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 MTAP 4507 broad.mit.edu 37 9 22009698 22009698 + Intron SNP G C C rs2069418 by1000genomes 2011-2305:2012-313-T g.chr9:22009698G>C uc003zpi.1 + CDKN2BAS_uc010miw.1_Intron|CDKN2BAS_uc010mix.1_Intron|CDKN2BAS_uc003zpm.2_Intron|CDKN2B_uc003zpn.2_5'Flank|CDKN2B_uc003zpo.2_5'Flank NM_002451 NP_002442 TTF1 7270 broad.mit.edu 37 9 135252745 135252745 + Intron SNP T C C rs140561030 by1000genomes 2011-2305:2012-313-T g.chr9:135252745T>C uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 TTF1 7270 broad.mit.edu 37 9 135252752 135252752 + Intron SNP G A A 2011-2305:2012-313-T g.chr9:135252752G>A uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 EXD3 54932 broad.mit.edu 37 9 140250115 140250115 + Intron SNP A T T 2011-2305:2012-313-T g.chr9:140250115A>T uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron|EXD3_uc004cmq.1_Intron|EXD3_uc010ncg.1_Intron NM_017820 NP_060290 PPP2R3B 28227 broad.mit.edu 37 X 323960 323960 + Intron SNP C T T 2011-2305:2012-313-T g.chrX:323960C>T uc004cpg.2 - PPP2R3B_uc011mha.1_Intron NM_013239 NP_037371 CHD5 26038 broad.mit.edu 37 1 6220442 6220442 + Intron SNP G A A 2011-2306:2012-1324-T g.chr1:6220442G>A uc001amb.1 - NM_015557 NP_056372 CHD5 26038 broad.mit.edu 37 1 6220446 6220446 + Intron SNP T C C 2011-2306:2012-1324-T g.chr1:6220446T>C uc001amb.1 - NM_015557 NP_056372 PDPN 10630 broad.mit.edu 37 1 13928539 13928541 + Intron TNP TGC GCA GCA rs70984269 2011-2306:2012-1324-T g.chr1:13928539_13928541TGC>GCA uc001avd.2 + PDPN_uc001avc.2_Intron|PDPN_uc009vob.2_Intron|PDPN_uc009voc.2_Intron|PDPN_uc001ave.2_Intron|PDPN_uc001avf.2_Intron NM_006474 NP_006465 PDE4DIP 9659 broad.mit.edu 37 1 145039744 145039744 + 5'UTR SNP C A A 2011-2306:2012-1324-T g.chr1:145039744C>A uc001elx.3 - 1 NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_5'UTR|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001emh.2_Intron NM_014644 NP_055459 PDE4DIP 9659 broad.mit.edu 37 1 145039821 145039821 + 5'UTR SNP C A A rs7554603 by1000genomes 2011-2306:2012-1324-T g.chr1:145039821C>A uc001elx.3 - 1 NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_5'UTR|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001emh.2_Intron NM_014644 NP_055459 PDE4DIP 9659 broad.mit.edu 37 1 145039831 145039831 + 5'UTR SNP A G G rs1343582 by1000genomes 2011-2306:2012-1324-T g.chr1:145039831A>G uc001elx.3 - 1 NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_5'UTR|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001emh.2_Intron NM_014644 NP_055459 ASH1L 55870 broad.mit.edu 37 1 155429725 155429725 + Intron SNP A C C rs10908466 by1000genomes 2011-2306:2012-1324-T g.chr1:155429725A>C uc009wqq.2 - ASH1L_uc001fkt.2_Intron NM_018489 NP_060959 MTA2 9219 broad.mit.edu 37 11 62365234 62365234 + Intron SNP T G G 2011-2306:2012-1324-T g.chr11:62365234T>G uc001ntq.1 - MTA2_uc010rlx.1_Intron NM_004739 NP_004730 TPCN2 219931 broad.mit.edu 37 11 68844562 68844562 + Intron SNP T C C 2011-2306:2012-1324-T g.chr11:68844562T>C uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_Intron NM_139075 NP_620714 MRE11A 4361 broad.mit.edu 37 11 94227029 94227029 + 5'UTR SNP C T T rs1805360 by1000genomes 2011-2306:2012-1324-T g.chr11:94227029C>T uc001peu.2 - 1 MRE11A_uc001pev.2_5'UTR|MRE11A_uc009ywj.2_5'UTR|ANKRD49_uc001pew.2_5'Flank|ANKRD49_uc001pex.2_5'Flank NM_005591 NP_005582 MRE11A 4361 broad.mit.edu 37 11 94227098 94227098 + 5'Flank SNP G T T rs12708334 by1000genomes 2011-2306:2012-1324-T g.chr11:94227098G>T uc001peu.2 - MRE11A_uc001pev.2_5'Flank|MRE11A_uc009ywj.2_5'Flank|ANKRD49_uc001pew.2_5'Flank|ANKRD49_uc001pex.2_5'Flank NM_005591 NP_005582 CCND2 894 broad.mit.edu 37 12 4382320 4382320 + 5'Flank SNP G T T rs55895521 by1000genomes 2011-2306:2012-1324-T g.chr12:4382320G>T uc001qmo.2 + NM_001759 NP_001750 NELL2 4753 broad.mit.edu 37 12 45270272 45270272 + 5'Flank SNP G A A rs4415832 by1000genomes 2011-2306:2012-1324-T g.chr12:45270272G>A uc001rog.2 - NELL2_uc001rof.3_5'Flank|NELL2_uc001roh.2_5'Flank|NELL2_uc009zkd.2_5'Flank|NELL2_uc010skz.1_Intron|NELL2_uc010sla.1_Intron|NELL2_uc001roi.1_Intron|NELL2_uc010slb.1_5'Flank|NELL2_uc001roj.2_5'Flank NM_001145108 NP_001138580 MLL2 8085 broad.mit.edu 37 12 49436724 49436724 + Intron SNP A G G rs12580349 by1000genomes 2011-2306:2012-1324-T g.chr12:49436724A>G uc001rta.3 - NM_003482 NP_003473 GPR133 283383 broad.mit.edu 37 12 131613756 131613756 + Intron SNP G A A 2011-2306:2012-1324-T g.chr12:131613756G>A uc001uit.3 + GPR133_uc010tbm.1_Intron|GPR133_uc009zyo.2_Intron|GPR133_uc009zyp.2_Intron NM_198827 NP_942122 RYR3 6263 broad.mit.edu 37 15 34038849 34038849 + Intron SNP G A A rs12910601 by1000genomes 2011-2306:2012-1324-T g.chr15:34038849G>A uc001zhi.2 + RYR3_uc010bar.2_Intron NM_001036 NP_001027 ETFA 2108 broad.mit.edu 37 15 76553486 76553486 + Intron SNP A G G rs76144335 by1000genomes 2011-2306:2012-1324-T g.chr15:76553486A>G uc002bbt.2 - ETFA_uc010bkq.1_Intron|ETFA_uc002bbu.1_Intron NM_000126 NP_000117 ETFA 2108 broad.mit.edu 37 15 76553500 76553500 + Intron SNP A G G rs113576573 by1000genomes 2011-2306:2012-1324-T g.chr15:76553500A>G uc002bbt.2 - ETFA_uc010bkq.1_Intron|ETFA_uc002bbu.1_Intron NM_000126 NP_000117 ABAT 18 broad.mit.edu 37 16 8806421 8806421 + Intron SNP T C C rs1273385 by1000genomes 2011-2306:2012-1324-T g.chr16:8806421T>C uc002czc.3 + ABAT_uc002czd.3_5'Flank|ABAT_uc010buh.2_5'Flank NM_020686 NP_065737 ABAT 18 broad.mit.edu 37 16 8807100 8807100 + Intron SNP G T T rs1060784 by1000genomes 2011-2306:2012-1324-T g.chr16:8807100G>T uc002czc.3 + ABAT_uc002czd.3_5'UTR|ABAT_uc010buh.2_5'UTR NM_020686 NP_065737 ABAT 18 broad.mit.edu 37 16 8807315 8807315 + Intron SNP C T T rs7188782 by1000genomes 2011-2306:2012-1324-T g.chr16:8807315C>T uc002czc.3 + ABAT_uc002czd.3_5'UTR|ABAT_uc010buh.2_5'UTR NM_020686 NP_065737 HYDIN 54768 broad.mit.edu 37 16 70867855 70867855 + Silent SNP G C C 2011-2306:2012-1324-T g.chr16:70867855G>C uc002ezr.2 - 79 13739 c.13611C>G c.(13609-13611)CCC>CCG p.P4537P HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 FANCA 2175 broad.mit.edu 37 16 89804855 89804855 + 3'UTR SNP C T T rs1230 by1000genomes 2011-2306:2012-1324-T g.chr16:89804855C>T uc002fou.1 - 43 ZNF276_uc010ciq.2_3'UTR|ZNF276_uc002fop.2_3'UTR|ZNF276_uc002foq.3_3'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_3'UTR|ZNF276_uc010cis.2_3'UTR|ZNF276_uc002fos.3_3'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_3'UTR|ZNF276_uc010cit.1_3'UTR|FANCA_uc010vpn.1_3'UTR NM_000135 NP_000126 ABR 29 broad.mit.edu 37 17 1046317 1046317 + Intron SNP G A A 2011-2306:2012-1324-T g.chr17:1046317G>A uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 ABR 29 broad.mit.edu 37 17 1046346 1046346 + Intron SNP A G G 2011-2306:2012-1324-T g.chr17:1046346A>G uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 ABR 29 broad.mit.edu 37 17 1046461 1046461 + Intron SNP G A A 2011-2306:2012-1324-T g.chr17:1046461G>A uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 ABR 29 broad.mit.edu 37 17 1049811 1049811 + Intron SNP C T T rs28374195 by1000genomes 2011-2306:2012-1324-T g.chr17:1049811C>T uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 ABR 29 broad.mit.edu 37 17 1057058 1057058 + Intron SNP G A A 2011-2306:2012-1324-T g.chr17:1057058G>A uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 RPTOR 57521 broad.mit.edu 37 17 78814193 78814193 + Intron SNP T C C rs2672870 by1000genomes 2011-2306:2012-1324-T g.chr17:78814193T>C uc002jyt.1 + RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 RPTOR 57521 broad.mit.edu 37 17 78814197 78814197 + Intron SNP T C C rs12944497 by1000genomes 2011-2306:2012-1324-T g.chr17:78814197T>C uc002jyt.1 + RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 CSNK1G2 1455 broad.mit.edu 37 19 1959795 1959795 + Intron SNP G A A rs74186978 by1000genomes 2011-2306:2012-1324-T g.chr19:1959795G>A uc002lul.3 + NM_001319 NP_001310 KEAP1 9817 broad.mit.edu 37 19 10610617 10610617 + Silent SNP C T T rs141924513 byFrequency 2011-2306:2012-1324-T g.chr19:10610617C>T uc002moq.1 - 2 249 c.93G>A c.(91-93)GTG>GTA p.V31V KEAP1_uc002mor.1_Silent_p.V31V NM_012289 NP_036421 LRP1B 53353 broad.mit.edu 37 2 142888376 142888376 + 5'UTR SNP G C C rs1375610 by1000genomes 2011-2306:2012-1324-T g.chr2:142888376G>C uc002tvj.1 - 1 LRP1B_uc010fnl.1_Missense_Mutation_p.P12A NM_018557 NP_061027 CASP8 841 broad.mit.edu 37 2 202124997 202124997 + Intron SNP T C C rs6754084 by1000genomes 2011-2306:2012-1324-T g.chr2:202124997T>C uc002uxr.1 + CASP8_uc010ftc.1_Intron|CASP8_uc002uxo.1_Intron|CASP8_uc002uxp.1_Intron|CASP8_uc002uxq.1_Intron|CASP8_uc002uxs.1_Intron|CASP8_uc002uxt.1_Intron|CASP8_uc002uxu.1_Intron|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Intron|CASP8_uc002uxw.1_5'Flank NM_033355 NP_203519 BAGE2 85319 broad.mit.edu 37 21 11038967 11038967 + 3'UTR SNP T C C rs28692944 by1000genomes 2011-2306:2012-1324-T g.chr21:11038967T>C uc002yit.1 - 6 TPTE_uc002yis.1_RNA NM_182482 NP_872288 BAGE2 85319 broad.mit.edu 37 21 11039033 11039033 + 3'UTR SNP G A A rs28369127 by1000genomes 2011-2306:2012-1324-T g.chr21:11039033G>A uc002yit.1 - 6 TPTE_uc002yis.1_RNA NM_182482 NP_872288 BAGE2 85319 broad.mit.edu 37 21 11039055 11039055 + 3'UTR SNP A G G rs28538601 by1000genomes 2011-2306:2012-1324-T g.chr21:11039055A>G uc002yit.1 - 6 TPTE_uc002yis.1_RNA NM_182482 NP_872288 BAGE2 85319 broad.mit.edu 37 21 11039079 11039079 + 3'UTR SNP C A A rs3888469 2011-2306:2012-1324-T g.chr21:11039079C>A uc002yit.1 - 6 TPTE_uc002yis.1_RNA NM_182482 NP_872288 BAGE2 85319 broad.mit.edu 37 21 11039298 11039298 + 3'UTR SNP C T T rs3888470 2011-2306:2012-1324-T g.chr21:11039298C>T uc002yit.1 - 6 TPTE_uc002yis.1_RNA NM_182482 NP_872288 BAGE2 85319 broad.mit.edu 37 21 11039302 11039302 + 3'UTR SNP A G G rs8130395 2011-2306:2012-1324-T g.chr21:11039302A>G uc002yit.1 - 6 TPTE_uc002yis.1_RNA NM_182482 NP_872288 C21orf56 84221 broad.mit.edu 37 21 47603413 47603413 + 5'UTR SNP A G G rs56293013 by1000genomes 2011-2306:2012-1324-T g.chr21:47603413A>G uc011afu.1 - 2 C21orf56_uc002zii.2_Intron NM_001142854 NP_001136326 MST1R 4486 broad.mit.edu 37 3 49924947 49924947 + Silent SNP G A A rs5030975 byFrequency 2011-2306:2012-1324-T g.chr3:49924947G>A uc003cxy.3 - 20 4260 c.3996C>T c.(3994-3996)CCC>CCT p.P1332P MST1R_uc011bdc.1_Silent_p.P211P NM_002447 NP_002438 MLF1 4291 broad.mit.edu 37 3 158289035 158289035 + 5'UTR SNP T A A rs3817373 by1000genomes 2011-2306:2012-1324-T g.chr3:158289035T>A uc003fcb.2 + 1 uc003fbw.1_5'Flank|MLF1_uc003fbz.2_5'UTR|MLF1_uc003fca.2_5'UTR|MLF1_uc003fbx.2_5'UTR|MLF1_uc003fcc.2_5'UTR|MLF1_uc003fby.2_5'UTR|MLF1_uc010hvx.2_5'UTR NM_022443 NP_071888 ATXN1 6310 broad.mit.edu 37 6 16327903 16327903 + Missense_Mutation SNP C A A rs3817753 2011-2306:2012-1324-T g.chr6:16327903C>A uc003nbt.2 - 8 1610 c.639G>T c.(637-639)CAG>CAT p.Q213H ATXN1_uc010jpi.2_Missense_Mutation_p.Q213H|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 FAM135B 51059 broad.mit.edu 37 8 139153374 139153374 + Intron SNP G C C rs4909738 by1000genomes 2011-2306:2012-1324-T g.chr8:139153374G>C uc003yuy.2 - FAM135B_uc003yux.2_Intron|FAM135B_uc003yuz.2_Intron NM_015912 NP_056996 PARP10 84875 broad.mit.edu 37 8 145051414 145051414 + 3'UTR SNP G A A rs1134027 by1000genomes 2011-2306:2012-1324-T g.chr8:145051414G>A uc003zal.3 - 11 PLEC_uc003zaj.2_5'Flank|PARP10_uc003zak.3_3'UTR|PARP10_uc011lku.1_3'UTR|PARP10_uc011lkv.1_RNA NM_032789 NP_116178 CRB2 286204 broad.mit.edu 37 9 126123604 126123604 + Intron SNP T C C rs11789721 by1000genomes 2011-2306:2012-1324-T g.chr9:126123604T>C uc004bnx.1 + CRB2_uc004bnw.1_Intron NM_173689 NP_775960 ENTPD2 954 broad.mit.edu 37 9 139944496 139944496 + Intron SNP T C C rs10870169 by1000genomes 2011-2306:2012-1324-T g.chr9:139944496T>C uc004ckw.1 - ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Intron NM_203468 NP_982293 ENTPD2 954 broad.mit.edu 37 9 139944509 139944509 + Intron SNP T C C rs10735661 by1000genomes 2011-2306:2012-1324-T g.chr9:139944509T>C uc004ckw.1 - ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Intron NM_203468 NP_982293 ENTPD2 954 broad.mit.edu 37 9 139944588 139944588 + Intron SNP T C C rs7869655 by1000genomes 2011-2306:2012-1324-T g.chr9:139944588T>C uc004ckw.1 - ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Intron NM_203468 NP_982293 ENTPD2 954 broad.mit.edu 37 9 139944689 139944689 + Intron SNP T C C rs7869777 by1000genomes 2011-2306:2012-1324-T g.chr9:139944689T>C uc004ckw.1 - ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Intron NM_203468 NP_982293 MCOLN2 255231 broad.mit.edu 37 1 85422061 85422061 + Intron SNP C T T rs632545 by1000genomes 2011-2307:2012-1335-T g.chr1:85422061C>T uc001dkm.2 - MCOLN2_uc001dkn.2_Intron NM_153259 NP_694991 NOTCH2 4853 broad.mit.edu 37 1 120612168 120612168 + 5'UTR SNP C T T rs11801102 by1000genomes 2011-2307:2012-1335-T g.chr1:120612168C>T uc001eik.2 - 1 NOTCH2_uc001eil.2_5'UTR|NOTCH2_uc001eim.3_5'UTR NM_024408 NP_077719 NOTCH2 4853 broad.mit.edu 37 1 120612269 120612269 + 5'UTR SNP A G G rs145966861 by1000genomes 2011-2307:2012-1335-T g.chr1:120612269A>G uc001eik.2 - 1 NOTCH2_uc001eil.2_5'UTR|NOTCH2_uc001eim.3_5'UTR NM_024408 NP_077719 LRFN5 145581 broad.mit.edu 37 14 42076434 42076434 + 5'Flank SNP C T T rs61990289 by1000genomes 2011-2307:2012-1335-T g.chr14:42076434C>T uc001wvm.2 + NM_152447 NP_689660 FOXN3 1112 broad.mit.edu 37 14 89827134 89827134 + Intron SNP C G G 2011-2307:2012-1335-T g.chr14:89827134C>G uc001xxo.3 - FOXN3_uc001xxn.3_Intron|FOXN3_uc010atk.2_Intron NM_001085471 NP_001078940 CDH15 1013 broad.mit.edu 37 16 89254939 89254939 + Intron SNP G A A rs10598322 2011-2307:2012-1335-T g.chr16:89254939G>A uc002fmt.2 + NM_004933 NP_004924 ABR 29 broad.mit.edu 37 17 1021849 1021849 + Intron SNP T C C 2011-2307:2012-1335-T g.chr17:1021849T>C uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 TP53 7157 broad.mit.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G A A 2011-2307:2012-1335-T g.chr17:7574003G>A uc002gim.2 - 10 1218 c.1024C>T c.(1024-1026)CGA>TGA p.R342* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342* NM_001126112 NP_001119584 STAT3 6774 broad.mit.edu 37 17 40490019 40490019 + Intron SNP T G G rs71367911 2011-2307:2012-1335-T g.chr17:40490019T>G uc002hzl.1 - STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron NM_139276 NP_644805 C18orf1 753 broad.mit.edu 37 18 13262891 13262891 + Intron SNP G A A 2011-2307:2012-1335-T g.chr18:13262891G>A uc002ksa.2 + C18orf1_uc002ksb.2_Intron NM_181481 NP_852146 CNN2 1265 broad.mit.edu 37 19 1034146 1034146 + Intron SNP A G G 2011-2307:2012-1335-T g.chr19:1034146A>G uc002lqu.2 + CNN2_uc002lqt.1_Intron|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.2_Intron|CNN2_uc010xgb.1_Intron|CNN2_uc010xgc.1_Intron NM_004368 NP_004359 NTN5 126147 broad.mit.edu 37 19 49172647 49172647 + Intron SNP C T T 2011-2307:2012-1335-T g.chr19:49172647C>T uc002pkb.2 - SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|NTN5_uc002pkc.2_Intron NM_145807 NP_665806 TTN 7273 broad.mit.edu 37 2 179462460 179462460 + Missense_Mutation SNP A G G 2011-2307:2012-1335-T g.chr2:179462460A>G uc010zfg.1 - 243 49869 c.49645T>C c.(49645-49647)TCT>CCT p.S16549P uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S10244P|TTN_uc010zfi.1_Missense_Mutation_p.S10177P|TTN_uc010zfj.1_Missense_Mutation_p.S10052P NM_133378 NP_596869 TTLL8 164714 broad.mit.edu 37 22 50467696 50467696 + Intron SNP A G G rs13056079 2011-2307:2012-1335-T g.chr22:50467696A>G uc011ark.1 - NM_001080447 NP_001073916 AFAP1 60312 broad.mit.edu 37 4 7898377 7898377 + Intron SNP C T T rs34895446 2011-2307:2012-1335-T g.chr4:7898377C>T uc003gkg.1 - AFAP1_uc011bwk.1_Intron NM_198595 NP_940997 SLC10A7 84068 broad.mit.edu 37 4 147207501 147207501 + Intron SNP T G G 2011-2307:2012-1335-T g.chr4:147207501T>G uc010ioz.2 - SLC10A7_uc003ikr.2_Intron|SLC10A7_uc010ipa.2_Intron|SLC10A7_uc003iks.2_Intron NM_001029998 NP_001025169 FAT1 2195 broad.mit.edu 37 4 187522449 187522449 + Nonsense_Mutation SNP G A A 2011-2307:2012-1335-T g.chr4:187522449G>A uc003izf.2 - 21 11802 c.11614C>T c.(11614-11616)CGA>TGA p.R3872* NM_005245 NP_005236 SLC9A3 6550 broad.mit.edu 37 5 487011 487011 + Intron SNP C T T 2011-2307:2012-1335-T g.chr5:487011C>T uc003jbe.2 - SLC9A3_uc011clx.1_Intron NM_004174 NP_004165 MAD1L1 8379 broad.mit.edu 37 7 2089820 2089820 + Intron SNP G A A 2011-2307:2012-1335-T g.chr7:2089820G>A uc003slh.1 - MAD1L1_uc003sle.1_Intron|MAD1L1_uc003slf.1_Intron|MAD1L1_uc003slg.1_Intron|MAD1L1_uc010ksh.1_Intron|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Intron|MAD1L1_uc010ksj.2_Intron NM_001013836 NP_001013858 ZFP41 286128 broad.mit.edu 37 8 144342173 144342173 + 3'UTR SNP G C C 2011-2307:2012-1335-T g.chr8:144342173G>C uc003yxw.2 + 3 ZFP41_uc003yxv.2_Intron NM_173832 NP_776193 ZFP41 286128 broad.mit.edu 37 8 144342202 144342202 + 3'UTR SNP G C C 2011-2307:2012-1335-T g.chr8:144342202G>C uc003yxw.2 + 3 ZFP41_uc003yxv.2_Intron NM_173832 NP_776193 PARP10 84875 broad.mit.edu 37 8 145055557 145055557 + Intron SNP A G G rs62530287 2011-2307:2012-1335-T g.chr8:145055557A>G uc003zal.3 - PARP10_uc003zak.3_Intron|PARP10_uc011lku.1_Intron|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Intron NM_032789 NP_116178 ABCA4 24 broad.mit.edu 37 1 94576968 94576968 + Intron SNP T C C rs2297634 by1000genomes 2011-2309:2012-318-T g.chr1:94576968T>C uc001dqh.2 - ABCA4_uc010otn.1_Intron NM_000350 NP_000341 C1orf125 126859 broad.mit.edu 37 1 179503805 179503805 + Intron SNP C T T rs112037427 2011-2309:2012-318-T g.chr1:179503805C>T uc001gmo.2 + C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_Intron NM_144696 NP_653297 DIP2C 22982 broad.mit.edu 37 10 724548 724548 + Intron SNP A C C rs4881507 by1000genomes 2011-2309:2012-318-T g.chr10:724548A>C uc001ifp.2 - NM_014974 NP_055789 PIK3C2A 5286 broad.mit.edu 37 11 17111272 17111272 + 3'UTR SNP A G G rs10832733 by1000genomes 2011-2309:2012-318-T g.chr11:17111272A>G uc001mmq.3 - 32 PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_3'UTR|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 OR4C15 81309 broad.mit.edu 37 11 55321661 55321661 + 5'Flank SNP C T T rs55828496 by1000genomes 2011-2309:2012-318-T g.chr11:55321661C>T uc010rig.1 + NM_001001920 NP_001001920 GPR133 283383 broad.mit.edu 37 12 131578398 131578398 + Intron SNP G A A rs2398547 by1000genomes 2011-2309:2012-318-T g.chr12:131578398G>A uc001uit.3 + GPR133_uc010tbm.1_Intron|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Intron NM_198827 NP_942122 TP53 7157 broad.mit.edu 37 17 7578202 7578202 + Missense_Mutation SNP A C C 2011-2309:2012-318-T g.chr17:7578202A>C uc002gim.2 - 6 841 c.647T>G c.(646-648)GTG>GGG p.V216G TP53_uc002gig.1_Missense_Mutation_p.V216G|TP53_uc002gih.2_Missense_Mutation_p.V216G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V84G|TP53_uc010cng.1_Missense_Mutation_p.V84G|TP53_uc002gii.1_Missense_Mutation_p.V84G|TP53_uc010cnh.1_Missense_Mutation_p.V216G|TP53_uc010cni.1_Missense_Mutation_p.V216G|TP53_uc002gij.2_Missense_Mutation_p.V216G|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123G|TP53_uc002gio.2_Missense_Mutation_p.V84G|TP53_uc010vug.1_Missense_Mutation_p.V177G NM_001126112 NP_001119584 RPTOR 57521 broad.mit.edu 37 17 78814156 78814156 + Intron SNP G A A rs113199399 2011-2309:2012-318-T g.chr17:78814156G>A uc002jyt.1 + RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 RPTOR 57521 broad.mit.edu 37 17 78814173 78814173 + Intron SNP A G G rs148700666 by1000genomes 2011-2309:2012-318-T g.chr17:78814173A>G uc002jyt.1 + RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 MED16 10025 broad.mit.edu 37 19 879483 879483 + Intron SNP G A A rs112204210 by1000genomes 2011-2309:2012-318-T g.chr19:879483G>A uc002lqd.1 - MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Intron|MED16_uc002lqf.2_Intron|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron NM_005481 NP_005472 RMND5A 64795 broad.mit.edu 37 2 87645024 87645024 + Intron SNP C T T 2011-2309:2012-318-T g.chr2:87645024C>T uc002srs.3 + CASP8 841 broad.mit.edu 37 2 202131505 202131505 + Missense_Mutation SNP C T T 2011-2309:2012-318-T g.chr2:202131505C>T uc002uxr.1 + 3 505 c.296C>T c.(295-297)TCT>TTT p.S99F CASP8_uc010ftc.1_Missense_Mutation_p.S99F|CASP8_uc002uxo.1_Missense_Mutation_p.S99F|CASP8_uc002uxp.1_Missense_Mutation_p.S99F|CASP8_uc002uxq.1_Missense_Mutation_p.S99F|CASP8_uc002uxs.1_Missense_Mutation_p.S99F|CASP8_uc002uxt.1_Missense_Mutation_p.S158F|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.S99F|CASP8_uc002uxw.1_Missense_Mutation_p.S99F|CASP8_uc002uxy.1_Missense_Mutation_p.S99F|CASP8_uc002uxx.1_Missense_Mutation_p.S99F|CASP8_uc010ftf.2_Missense_Mutation_p.S99F NM_033355 NP_203519 ARFGEF2 10564 broad.mit.edu 37 20 47628363 47628363 + Intron SNP G A A rs1535268 by1000genomes 2011-2309:2012-318-T g.chr20:47628363G>A uc002xtx.3 + ARFGEF2_uc010zyf.1_Intron NM_006420 NP_006411 KCNQ2 3785 broad.mit.edu 37 20 62064055 62064055 + Intron SNP T A A 2011-2309:2012-318-T g.chr20:62064055T>A uc002yey.1 - KCNQ2_uc002yez.1_Intron|KCNQ2_uc002yfa.1_Intron|KCNQ2_uc002yfb.1_Intron|KCNQ2_uc011aax.1_Intron NM_172107 NP_742105 KCNQ2 3785 broad.mit.edu 37 20 62064064 62064064 + Intron SNP C T T 2011-2309:2012-318-T g.chr20:62064064C>T uc002yey.1 - KCNQ2_uc002yez.1_Intron|KCNQ2_uc002yfa.1_Intron|KCNQ2_uc002yfb.1_Intron|KCNQ2_uc011aax.1_Intron NM_172107 NP_742105 FAT1 2195 broad.mit.edu 37 4 187527039 187527039 + Intron SNP G A A rs11735243 by1000genomes 2011-2309:2012-318-T g.chr4:187527039G>A uc003izf.2 - NM_005245 NP_005236 AHRR 57491 broad.mit.edu 37 5 309862 309862 + Intron SNP C A A 2011-2309:2012-318-T g.chr5:309862C>A uc003jav.2 + AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|PDCD6_uc003jat.1_Intron|PDCD6_uc003jau.1_Intron NM_020731 NP_065782 AHRR 57491 broad.mit.edu 37 5 392342 392342 + Intron SNP G A A 2011-2309:2012-318-T g.chr5:392342G>A uc003jav.2 + AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Intron NM_020731 NP_065782 RASA1 5921 broad.mit.edu 37 5 86672233 86672233 + Nonsense_Mutation SNP C T T 2011-2309:2012-318-T g.chr5:86672233C>T uc003kiw.2 + 16 2153 c.2035C>T c.(2035-2037)CGA>TGA p.R679* RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.R502*|RASA1_uc011ctv.1_Nonsense_Mutation_p.R512*|RASA1_uc011ctw.1_Nonsense_Mutation_p.R513*|RASA1_uc010jaw.2_Nonsense_Mutation_p.R501* NM_002890 NP_002881 LAMB1 3912 broad.mit.edu 37 7 107618420 107618420 + Intron SNP A G G rs11769960 by1000genomes 2011-2309:2012-318-T g.chr7:107618420A>G uc003vew.2 - LAMB1_uc003vev.2_Intron|LAMB1_uc003vex.2_Intron|LAMB1_uc010ljn.1_Intron NM_002291 NP_002282 PTPRN2 5799 broad.mit.edu 37 7 157852057 157852057 + Intron SNP G A A 2011-2309:2012-318-T g.chr7:157852057G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157941000 157941000 + Intron SNP G A A 2011-2309:2012-318-T g.chr7:157941000G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157941079 157941079 + Intron SNP T A A 2011-2309:2012-318-T g.chr7:157941079T>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 UNC5D 137970 broad.mit.edu 37 8 35588568 35588568 + Missense_Mutation SNP G A A 2011-2309:2012-318-T g.chr8:35588568G>A uc003xjr.1 + 11 2048 c.1720G>A c.(1720-1722)GAG>AAG p.E574K UNC5D_uc003xjs.1_Missense_Mutation_p.E569K|UNC5D_uc003xju.1_Missense_Mutation_p.E150K NM_080872 NP_543148 RB1CC1 9821 broad.mit.edu 37 8 53540663 53540663 + Missense_Mutation SNP G C C 2011-2309:2012-318-T g.chr8:53540663G>C uc003xre.3 - 22 5123 c.4565C>G c.(4564-4566)ACT>AGT p.T1522S RB1CC1_uc003xrf.3_Missense_Mutation_p.T1522S NM_014781 NP_055596 CSMD3 114788 broad.mit.edu 37 8 113420605 113420605 + Silent SNP T A A 2011-2309:2012-318-T g.chr8:113420605T>A uc003ynu.2 - 34 5706 c.5547A>T c.(5545-5547)ACA>ACT p.T1849T CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Silent_p.T1809T|CSMD3_uc011lhx.1_Silent_p.T1745T NM_198123 NP_937756 CDKN2A 1029 broad.mit.edu 37 9 21971053 21971053 + Missense_Mutation SNP G T T rs137854598 2011-2309:2012-318-T g.chr9:21971053G>T uc003zpk.2 - 2 517 c.305C>A c.(304-306)GCG>GAG p.A102E MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.G157G NM_000077 NP_000068 FANCG 2189 broad.mit.edu 37 9 35076894 35076894 + Intron SNP C T T 2011-2309:2012-318-T g.chr9:35076894C>T uc003zwb.1 - FANCG_uc003zwa.1_Intron|FANCG_uc010mkj.1_Intron|FANCG_uc011lot.1_Intron NM_004629 NP_004620 GNAQ 2776 broad.mit.edu 37 9 80343561 80343561 + Missense_Mutation SNP G A A 2011-2309:2012-318-T g.chr9:80343561G>A uc004akw.2 - 6 799 c.758C>T c.(757-759)GCT>GTT p.A253V GNAQ_uc011lso.1_Missense_Mutation_p.A51V NM_002072 NP_002063 HDX 139324 broad.mit.edu 37 X 83757817 83757817 + 5'Flank SNP G A A rs2294339 by1000genomes 2011-2309:2012-318-T g.chrX:83757817G>A uc004eek.1 - HDX_uc011mqv.1_5'Flank|HDX_uc004eel.1_5'Flank NM_144657 NP_653258 B4GALNT3 283358 broad.mit.edu 37 12 622058 622058 + Intron SNP T G G rs28808123 by1000genomes 2011-2310:2012-317-T g.chr12:622058T>G uc001qii.1 + NM_173593 NP_775864 GPR133 283383 broad.mit.edu 37 12 131502357 131502357 + Intron SNP T C C rs35375835 by1000genomes 2011-2310:2012-317-T g.chr12:131502357T>C uc001uit.3 + GPR133_uc010tbm.1_Intron NM_198827 NP_942122 F7 2155 broad.mit.edu 37 13 113761891 113761891 + Intron SNP G A A 2011-2310:2012-317-T g.chr13:113761891G>A uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 ZFPM1 161882 broad.mit.edu 37 16 88553198 88553198 + Intron SNP T C C rs28634651 by1000genomes 2011-2310:2012-317-T g.chr16:88553198T>C uc002fkv.2 + NM_153813 NP_722520 TP53 7157 broad.mit.edu 37 17 7578478 7578478 + Missense_Mutation SNP G T T 2011-2310:2012-317-T g.chr17:7578478G>T uc002gim.2 - 5 646 c.452C>A c.(451-453)CCC>CAC p.P151H TP53_uc002gig.1_Missense_Mutation_p.P151H|TP53_uc002gih.2_Missense_Mutation_p.P151H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P19H|TP53_uc010cng.1_Missense_Mutation_p.P19H|TP53_uc002gii.1_Missense_Mutation_p.P19H|TP53_uc010cnh.1_Missense_Mutation_p.P151H|TP53_uc010cni.1_Missense_Mutation_p.P151H|TP53_uc002gij.2_Missense_Mutation_p.P151H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P58H|TP53_uc002gio.2_Missense_Mutation_p.P19H|TP53_uc010vug.1_Missense_Mutation_p.P112H NM_001126112 NP_001119584 KIAA1468 57614 broad.mit.edu 37 18 59954765 59954765 + Intron SNP G T T rs1567038 by1000genomes 2011-2310:2012-317-T g.chr18:59954765G>T uc002lil.2 + KIAA1468_uc010xel.1_Intron|KIAA1468_uc002lim.2_Intron NM_020854 NP_065905 DNMT3A 1788 broad.mit.edu 37 2 25458546 25458546 + Intron SNP C T T rs2304429 by1000genomes 2011-2310:2012-317-T g.chr2:25458546C>T uc002rgc.2 - DNMT3A_uc002rgd.2_Intron|DNMT3A_uc010eyi.2_Intron|DNMT3A_uc002rgb.2_Intron NM_022552 NP_072046 FARP2 9855 broad.mit.edu 37 2 242352839 242352839 + Intron SNP A G G 2011-2310:2012-317-T g.chr2:242352839A>G uc002wbi.1 + FARP2_uc010zoq.1_Intron|FARP2_uc010zor.1_Intron NM_014808 NP_055623 CNTNAP2 26047 broad.mit.edu 37 7 147336165 147336165 + Intron SNP G T T 2011-2310:2012-317-T g.chr7:147336165G>T uc003weu.1 + NM_014141 NP_054860 NOTCH1 4851 broad.mit.edu 37 9 139412628 139412628 + Missense_Mutation SNP C A A 2011-2310:2012-317-T g.chr9:139412628C>A uc004chz.2 - 7 1216 c.1216G>T c.(1216-1218)GGC>TGC p.G406C NM_017617 NP_060087 JAK1 3716 broad.mit.edu 37 1 65334910 65334910 + Intron SNP G C C 2011-2311:2012-362-T g.chr1:65334910G>C uc001dbu.1 - JAK1_uc009wam.1_Intron NM_002227 NP_002218 PDE4DIP 9659 broad.mit.edu 37 1 144892586 144892586 + Missense_Mutation SNP G T T rs138493755 2011-2311:2012-362-T g.chr1:144892586G>T uc001elw.3 - 22 3110 c.2819C>A c.(2818-2820)GCA>GAA p.A940E NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.A1006E|PDE4DIP_uc001emc.1_Missense_Mutation_p.A940E|PDE4DIP_uc001emd.1_Missense_Mutation_p.A940E|PDE4DIP_uc001elv.3_5'UTR|PDE4DIP_uc001emb.1_Missense_Mutation_p.A1103E NM_014644 NP_055459 SPTA1 6708 broad.mit.edu 37 1 158612687 158612687 + Missense_Mutation SNP C A A 2011-2311:2012-362-T g.chr1:158612687C>A uc001fst.1 - 32 4721 c.4522G>T c.(4522-4524)GAC>TAC p.D1508Y NM_003126 NP_003117 SPTA1 6708 broad.mit.edu 37 1 158637806 158637806 + Missense_Mutation SNP T A A 2011-2311:2012-362-T g.chr1:158637806T>A uc001fst.1 - 15 2079 c.1880A>T c.(1879-1881)GAA>GTA p.E627V NM_003126 NP_003117 IDI1 3422 broad.mit.edu 37 10 1092876 1092876 + Intron SNP A C C 2011-2311:2012-362-T g.chr10:1092876A>C uc001iga.2 - IDI1_uc001ifz.2_5'Flank|IDI1_uc001igb.2_Intron|IDI1_uc001igc.2_Intron|uc001igd.2_5'Flank NM_004508 NP_004499 EXT2 2132 broad.mit.edu 37 11 44117122 44117122 + 5'UTR SNP G A A rs3923808 by1000genomes 2011-2311:2012-362-T g.chr11:44117122G>A uc001mxz.2 + 1 EXT2_uc010rfo.1_Intron|EXT2_uc001mxy.2_5'UTR|EXT2_uc009ykt.2_5'UTR|EXT2_uc001mya.2_5'Flank NM_207122 NP_997005 AHNAK 79026 broad.mit.edu 37 11 62284492 62284492 + Silent SNP C A A 2011-2311:2012-362-T g.chr11:62284492C>A uc001ntl.2 - 5 17697 c.17397G>T c.(17395-17397)CTG>CTT p.L5799L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 AHNAK 79026 broad.mit.edu 37 11 62292304 62292304 + Silent SNP A G G 2011-2311:2012-362-T g.chr11:62292304A>G uc001ntl.2 - 5 9885 c.9585T>C c.(9583-9585)ATT>ATC p.I3195I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 NINJ2 4815 broad.mit.edu 37 12 691889 691889 + Intron SNP A G G 2011-2311:2012-362-T g.chr12:691889A>G uc001qil.2 - NINJ2_uc010sdr.1_Intron|NINJ2_uc010sds.1_Intron NM_016533 NP_057617 LRRK2 120892 broad.mit.edu 37 12 40749963 40749963 + Missense_Mutation SNP G C C 2011-2311:2012-362-T g.chr12:40749963G>C uc001rmg.3 + 46 6938 c.6817G>C c.(6817-6819)GCA>CCA p.A2273P LRRK2_uc009zjw.2_Missense_Mutation_p.A1111P|LRRK2_uc001rmi.2_Missense_Mutation_p.A1106P NM_198578 NP_940980 MLL2 8085 broad.mit.edu 37 12 49436079 49436079 + Nonsense_Mutation SNP C A A 2011-2311:2012-362-T g.chr12:49436079C>A uc001rta.3 - 28 5902 c.5902G>T c.(5902-5904)GAG>TAG p.E1968* NM_003482 NP_003473 NAV3 89795 broad.mit.edu 37 12 78415660 78415660 + Intron SNP T A A 2011-2311:2012-362-T g.chr12:78415660T>A uc001syp.2 + NAV3_uc001syo.2_Intron NM_014903 NP_055718 ANO4 121601 broad.mit.edu 37 12 101480632 101480632 + Intron SNP G T T 2011-2311:2012-362-T g.chr12:101480632G>T uc010svm.1 + ANO4_uc001thw.2_Intron|ANO4_uc001thx.2_Intron|ANO4_uc001thy.2_Intron NM_178826 NP_849148 TRIP11 9321 broad.mit.edu 37 14 92465804 92465804 + Intron SNP T A A 2011-2311:2012-362-T g.chr14:92465804T>A uc001xzy.2 - TRIP11_uc010auf.1_Intron NM_004239 NP_004230 HERC2 8924 broad.mit.edu 37 15 28359837 28359837 + Missense_Mutation SNP C T T 2011-2311:2012-362-T g.chr15:28359837C>T uc001zbj.2 - 90 13940 c.13834G>A c.(13834-13836)GAC>AAC p.D4612N HERC2_uc001zbi.2_Missense_Mutation_p.D301N NM_004667 NP_004658 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C A A rs11540652 2011-2311:2012-362-T g.chr17:7577538C>A uc002gim.2 - 7 937 c.743G>T c.(742-744)CGG>CTG p.R248L TP53_uc002gig.1_Missense_Mutation_p.R248L|TP53_uc002gih.2_Missense_Mutation_p.R248L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116L|TP53_uc010cng.1_Missense_Mutation_p.R116L|TP53_uc002gii.1_Missense_Mutation_p.R116L|TP53_uc010cnh.1_Missense_Mutation_p.R248L|TP53_uc010cni.1_Missense_Mutation_p.R248L|TP53_uc002gij.2_Missense_Mutation_p.R248L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155L|TP53_uc002gio.2_Missense_Mutation_p.R116L NM_001126112 NP_001119584 TP53 7157 broad.mit.edu 37 17 7578442 7578442 + Missense_Mutation SNP T C C rs148924904 2011-2311:2012-362-T g.chr17:7578442T>C uc002gim.2 - 5 682 c.488A>G c.(487-489)TAC>TGC p.Y163C TP53_uc002gig.1_Missense_Mutation_p.Y163C|TP53_uc002gih.2_Missense_Mutation_p.Y163C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y31C|TP53_uc010cng.1_Missense_Mutation_p.Y31C|TP53_uc002gii.1_Missense_Mutation_p.Y31C|TP53_uc010cnh.1_Missense_Mutation_p.Y163C|TP53_uc010cni.1_Missense_Mutation_p.Y163C|TP53_uc002gij.2_Missense_Mutation_p.Y163C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y70C|TP53_uc002gio.2_Missense_Mutation_p.Y31C|TP53_uc010vug.1_Missense_Mutation_p.Y124C NM_001126112 NP_001119584 MYH1 4619 broad.mit.edu 37 17 10415208 10415208 + Missense_Mutation SNP G T T 2011-2311:2012-362-T g.chr17:10415208G>T uc002gmo.2 - 14 1458 c.1364C>A c.(1363-1365)CCC>CAC p.P455H uc002gml.1_Intron NM_005963 NP_005954 ABCA6 23460 broad.mit.edu 37 17 67109812 67109812 + Missense_Mutation SNP C T T 2011-2311:2012-362-T g.chr17:67109812C>T uc002jhw.1 - 14 2024 c.1849G>A c.(1849-1851)GAA>AAA p.E617K ABCA6_uc002jhx.1_Missense_Mutation_p.E70K NM_080284 NP_525023 C18orf1 753 broad.mit.edu 37 18 13262554 13262554 + Intron SNP C T T 2011-2311:2012-362-T g.chr18:13262554C>T uc002ksa.2 + C18orf1_uc002ksb.2_Intron NM_181481 NP_852146 DCC 1630 broad.mit.edu 37 18 50936780 50936780 + Intron SNP G A A rs10853631 by1000genomes 2011-2311:2012-362-T g.chr18:50936780G>A uc002lfe.1 + DCC_uc010xdr.1_Intron|DCC_uc010dpf.1_Intron NM_005215 NP_005206 RTTN 25914 broad.mit.edu 37 18 67679326 67679326 + Intron SNP A G G rs12961728 by1000genomes 2011-2311:2012-362-T g.chr18:67679326A>G uc002lkp.2 - RTTN_uc002lko.2_Intron|RTTN_uc010xfb.1_Intron|RTTN_uc002lkn.2_Intron|RTTN_uc010dqp.2_Intron NM_173630 NP_775901 KCNG2 26251 broad.mit.edu 37 18 77626503 77626503 + Intron SNP G T T rs62103182 by1000genomes 2011-2311:2012-362-T g.chr18:77626503G>T uc010xfl.1 + NM_012283 NP_036415 SFRS14 10147 broad.mit.edu 37 19 19136989 19136989 + Silent SNP G A A 2011-2311:2012-362-T g.chr19:19136989G>A uc002nkx.2 - 3 314 c.168C>T c.(166-168)GAC>GAT p.D56D SFRS14_uc002nkz.1_Silent_p.D70D|SFRS14_uc002nla.1_Silent_p.D56D|SFRS14_uc002nlb.2_Silent_p.D56D|SFRS14_uc010xqk.1_Translation_Start_Site NM_014884 NP_055699 CNGA3 1261 broad.mit.edu 37 2 99012404 99012404 + Silent SNP C T T 2011-2311:2012-362-T g.chr2:99012404C>T uc002syt.2 + 8 1188 c.771C>T c.(769-771)GTC>GTT p.V257V CNGA3_uc002syu.2_Silent_p.V239V|CNGA3_uc010fij.2_Silent_p.V261V NM_001298 NP_001289 ZEB2 9839 broad.mit.edu 37 2 145157056 145157056 + Silent SNP G T T 2011-2311:2012-362-T g.chr2:145157056G>T uc002tvu.2 - 8 2178 c.1698C>A c.(1696-1698)GTC>GTA p.V566V ZEB2_uc002tvv.2_Silent_p.V560V|ZEB2_uc010zbm.1_Silent_p.V537V|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.V595V NM_014795 NP_055610 TTN 7273 broad.mit.edu 37 2 179606103 179606103 + Missense_Mutation SNP G A A 2011-2311:2012-362-T g.chr2:179606103G>A uc010zfh.1 - 46 11568 c.11344C>T c.(11344-11346)CTT>TTT p.L3782F TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.L3715F|TTN_uc010zfj.1_Missense_Mutation_p.L3590F|TTN_uc002umz.1_Intron NM_133437 NP_597681 TTN 7273 broad.mit.edu 37 2 179633613 179633613 + Missense_Mutation SNP C T T 2011-2311:2012-362-T g.chr2:179633613C>T uc010zfg.1 - 38 9174 c.8950G>A c.(8950-8952)GAC>AAC p.D2984N TTN_uc010zfh.1_Missense_Mutation_p.D2938N|TTN_uc010zfi.1_Missense_Mutation_p.D2938N|TTN_uc010zfj.1_Missense_Mutation_p.D2938N|TTN_uc002unb.2_Missense_Mutation_p.D2984N NM_133378 NP_596869 ESPNL 339768 broad.mit.edu 37 2 239027152 239027152 + Intron SNP G A A 2011-2311:2012-362-T g.chr2:239027152G>A uc002vxq.3 + ESPNL_uc010fyw.2_Intron NM_194312 NP_919288 PAK7 57144 broad.mit.edu 37 20 9543367 9543367 + Intron SNP C A A 2011-2311:2012-362-T g.chr20:9543367C>A uc002wnl.2 - PAK7_uc002wnk.2_Intron|PAK7_uc002wnj.2_Intron|PAK7_uc010gby.1_Intron NM_020341 NP_065074 ASXL1 171023 broad.mit.edu 37 20 31022351 31022351 + Missense_Mutation SNP G C C 2011-2311:2012-362-T g.chr20:31022351G>C uc002wxs.2 + 12 2262 c.1836G>C c.(1834-1836)AGG>AGC p.R612S ASXL1_uc010geb.2_Missense_Mutation_p.R503S NM_015338 NP_056153 FOXP1 27086 broad.mit.edu 37 3 71102865 71102865 + Silent SNP C T T 2011-2311:2012-362-T g.chr3:71102865C>T uc003dol.2 - 4 665 c.342G>A c.(340-342)CAG>CAA p.Q114Q FOXP1_uc003dom.2_Intron|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.Q114Q|FOXP1_uc003dop.2_Silent_p.Q114Q|FOXP1_uc003doq.1_Silent_p.Q114Q|FOXP1_uc003doi.2_Silent_p.Q14Q|FOXP1_uc003doj.2_Silent_p.Q14Q|FOXP1_uc003dok.2_Intron NM_032682 NP_116071 EPHA3 2042 broad.mit.edu 37 3 89156740 89156740 + 5'UTR SNP C T T 2011-2311:2012-362-T g.chr3:89156740C>T uc003dqy.2 + 1 EPHA3_uc003dqx.1_5'UTR|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 GMPS 8833 broad.mit.edu 37 3 155637002 155637002 + Intron SNP G C C 2011-2311:2012-362-T g.chr3:155637002G>C uc003faq.2 + GMPS_uc011bom.1_Intron NM_003875 NP_003866 SORCS2 57537 broad.mit.edu 37 4 7455225 7455225 + Intron SNP A G G 2011-2311:2012-362-T g.chr4:7455225A>G uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 FBXW7 55294 broad.mit.edu 37 4 153333606 153333606 + Intron SNP T A A 2011-2311:2012-362-T g.chr4:153333606T>A uc003ims.2 - FBXW7_uc011cii.1_Intron|FBXW7_uc003imt.2_Intron|FBXW7_uc003imu.2_Intron NM_033632 NP_361014 SLC9A3 6550 broad.mit.edu 37 5 500972 500972 + Intron SNP T C C 2011-2311:2012-362-T g.chr5:500972T>C uc003jbe.2 - SLC9A3_uc011clx.1_Intron NM_004174 NP_004165 TRIO 7204 broad.mit.edu 37 5 14482839 14482839 + Missense_Mutation SNP A G G 2011-2311:2012-362-T g.chr5:14482839A>G uc003jff.2 + 46 6620 c.6614A>G c.(6613-6615)AAG>AGG p.K2205R TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.K1854R NM_007118 NP_009049 CDH10 1008 broad.mit.edu 37 5 24498637 24498637 + Intron SNP G T T 2011-2311:2012-362-T g.chr5:24498637G>T uc003jgr.1 - CDH10_uc011cnu.1_Intron NM_006727 NP_006718 CDH9 1007 broad.mit.edu 37 5 26881273 26881273 + Missense_Mutation SNP T C C 2011-2311:2012-362-T g.chr5:26881273T>C uc003jgs.1 - 12 2511 c.2342A>G c.(2341-2343)TAT>TGT p.Y781C CDH9_uc011cnv.1_Missense_Mutation_p.Y374C NM_016279 NP_057363 CDH9 1007 broad.mit.edu 37 5 26902630 26902630 + Missense_Mutation SNP C A A 2011-2311:2012-362-T g.chr5:26902630C>A uc003jgs.1 - 7 1377 c.1208G>T c.(1207-1209)GGA>GTA p.G403V NM_016279 NP_057363 MEF2C 4208 broad.mit.edu 37 5 88100532 88100532 + Missense_Mutation SNP G C C 2011-2311:2012-362-T g.chr5:88100532G>C uc003kjj.2 - 3 814 c.141C>G c.(139-141)ATC>ATG p.I47M MEF2C_uc003kji.2_Missense_Mutation_p.I47M|MEF2C_uc003kjk.2_Missense_Mutation_p.I47M|MEF2C_uc003kjm.2_Missense_Mutation_p.I47M|MEF2C_uc003kjl.2_Missense_Mutation_p.I47M NM_002397 NP_002388 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139838409 139838409 + Missense_Mutation SNP A G G 2011-2311:2012-362-T g.chr5:139838409A>G uc003lfs.1 + 8 1566 c.1442A>G c.(1441-1443)GAA>GGA p.E481G ANKHD1_uc003lfq.1_Missense_Mutation_p.E481G|ANKHD1_uc003lfr.2_Missense_Mutation_p.E481G|ANKHD1_uc003lft.1_5'Flank|ANKHD1_uc003lfu.1_5'Flank|ANKHD1_uc003lfp.2_Missense_Mutation_p.E470G|ANKHD1_uc003lfo.2_Missense_Mutation_p.E481G|ANKHD1_uc010jfk.2_Missense_Mutation_p.E481G NM_020690 NP_065741 PCDHB11 56125 broad.mit.edu 37 5 140579412 140579412 + Missense_Mutation SNP G C C rs35630223 2011-2311:2012-362-T g.chr5:140579412G>C uc003liy.2 + 1 65 c.65G>C c.(64-66)GGA>GCA p.G22A PCDHB11_uc011daj.1_Intron NM_018931 NP_061754 NSD1 64324 broad.mit.edu 37 5 176638794 176638794 + Nonsense_Mutation SNP G T T 2011-2311:2012-362-T g.chr5:176638794G>T uc003mfr.3 + 5 3532 c.3394G>T c.(3394-3396)GGA>TGA p.G1132* NSD1_uc003mft.3_Nonsense_Mutation_p.G863*|NSD1_uc003mfs.1_Nonsense_Mutation_p.G1029*|NSD1_uc011dfx.1_Nonsense_Mutation_p.G780* NM_022455 NP_071900 NSD1 64324 broad.mit.edu 37 5 176710828 176710828 + Missense_Mutation SNP G T T 2011-2311:2012-362-T g.chr5:176710828G>T uc003mfr.3 + 20 6188 c.6050G>T c.(6049-6051)CGG>CTG p.R2017L NSD1_uc003mft.3_Missense_Mutation_p.R1748L|NSD1_uc011dfx.1_Missense_Mutation_p.R1665L NM_022455 NP_071900 PKHD1 5314 broad.mit.edu 37 6 51897901 51897901 + Silent SNP G A A 2011-2311:2012-362-T g.chr6:51897901G>A uc003pah.1 - 29 3567 c.3291C>T c.(3289-3291)CCC>CCT p.P1097P PKHD1_uc003pai.2_Silent_p.P1097P NM_138694 NP_619639 SYNE1 23345 broad.mit.edu 37 6 152485171 152485171 + Intron SNP C A A 2011-2311:2012-362-T g.chr6:152485171C>A uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qop.3_Intron|SYNE1_uc011eez.1_Intron|SYNE1_uc003qoq.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152777321 152777321 + Intron SNP G A A 2011-2311:2012-362-T g.chr6:152777321G>A uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qow.2_Intron|SYNE1_uc003qox.1_Intron|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152783798 152783798 + Intron SNP A G G 2011-2311:2012-362-T g.chr6:152783798A>G uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qpa.1_3'UTR|SYNE1_uc003qow.2_Intron|SYNE1_uc003qox.1_Intron|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Intron NM_182961 NP_892006 SLC22A2 6582 broad.mit.edu 37 6 160639912 160639912 + Intron SNP C T T 2011-2311:2012-362-T g.chr6:160639912C>T uc003qtf.2 - SLC22A2_uc003qte.1_Intron NM_003058 NP_003049 MAD1L1 8379 broad.mit.edu 37 7 1910218 1910218 + Intron SNP C A A 2011-2311:2012-362-T g.chr7:1910218C>A uc003slh.1 - MAD1L1_uc003sle.1_Intron|MAD1L1_uc003slf.1_Intron|MAD1L1_uc003slg.1_Intron|MAD1L1_uc010ksh.1_Intron|MAD1L1_uc003sli.1_Intron|MAD1L1_uc003sld.1_Intron NM_001013836 NP_001013858 THSD7A 221981 broad.mit.edu 37 7 11581209 11581209 + Silent SNP A C C 2011-2311:2012-362-T g.chr7:11581209A>C uc003ssf.3 - 6 1911 c.1659T>G c.(1657-1659)TCT>TCG p.S553S NM_015204 NP_056019 VPS41 27072 broad.mit.edu 37 7 38857356 38857356 + Intron SNP C A A 2011-2311:2012-362-T g.chr7:38857356C>A uc003tgy.2 - VPS41_uc003tgz.2_Intron|VPS41_uc010kxn.2_Intron NM_014396 NP_055211 GRM8 2918 broad.mit.edu 37 7 126542518 126542518 + Intron SNP A G G 2011-2311:2012-362-T g.chr7:126542518A>G uc003vlr.2 - GRM8_uc003vls.2_Intron|GRM8_uc011kof.1_Intron|GRM8_uc003vlt.2_Intron|GRM8_uc010lkz.1_Intron|GRM8_uc003vlu.1_Intron NM_000845 NP_000836 CNTNAP2 26047 broad.mit.edu 37 7 146471334 146471334 + Intron SNP C T T 2011-2311:2012-362-T g.chr7:146471334C>T uc003weu.1 + NM_014141 NP_054860 CNTNAP2 26047 broad.mit.edu 37 7 146997336 146997336 + Silent SNP T A A 2011-2311:2012-362-T g.chr7:146997336T>A uc003weu.1 + 9 1968 c.1452T>A c.(1450-1452)ACT>ACA p.T484T NM_014141 NP_054860 CNTNAP2 26047 broad.mit.edu 37 7 147092716 147092716 + Missense_Mutation SNP T C C 2011-2311:2012-362-T g.chr7:147092716T>C uc003weu.1 + 10 2030 c.1514T>C c.(1513-1515)ATG>ACG p.M505T NM_014141 NP_054860 PTPRN2 5799 broad.mit.edu 37 7 157524320 157524320 + Intron SNP C A A 2011-2311:2012-362-T g.chr7:157524320C>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 UNC5D 137970 broad.mit.edu 37 8 35631836 35631836 + Missense_Mutation SNP C A A 2011-2311:2012-362-T g.chr8:35631836C>A uc003xjr.1 + 16 2826 c.2498C>A c.(2497-2499)ACT>AAT p.T833N UNC5D_uc003xjs.1_Missense_Mutation_p.T828N|UNC5D_uc003xju.1_Missense_Mutation_p.T409N NM_080872 NP_543148 CSMD3 114788 broad.mit.edu 37 8 113662691 113662691 + Intron SNP A G G 2011-2311:2012-362-T g.chr8:113662691A>G uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 ENPP2 5168 broad.mit.edu 37 8 120628659 120628659 + Intron SNP A C C 2011-2311:2012-362-T g.chr8:120628659A>C uc003yot.1 - ENPP2_uc003yos.1_Intron|ENPP2_uc010mdd.1_Intron NM_001040092 NP_001035181 PHKA2 5256 broad.mit.edu 37 X 18958196 18958196 + Intron SNP C A A 2011-2311:2012-362-T g.chrX:18958196C>A uc004cyv.3 - NM_000292 NP_000283 RGAG1 57529 broad.mit.edu 37 X 109695557 109695557 + Missense_Mutation SNP C A A 2011-2311:2012-362-T g.chrX:109695557C>A uc004eor.1 + 3 1958 c.1712C>A c.(1711-1713)ACT>AAT p.T571N RGAG1_uc011msr.1_Missense_Mutation_p.T571N NM_020769 NP_065820 ODZ1 10178 broad.mit.edu 37 X 124097654 124097654 + Translation_Start_Site SNP A C C 2011-2311:2012-362-T g.chrX:124097654A>C uc004euj.2 - 1 13 c.-51T>G c.(-53--49)ATTAA>ATGAA ODZ1_uc011muj.1_Translation_Start_Site|ODZ1_uc010nqy.2_Translation_Start_Site NM_014253 NP_055068 WDR63 126820 broad.mit.edu 37 1 85592296 85592296 + Missense_Mutation SNP T C C 2011-2312:2012-361-T g.chr1:85592296T>C uc001dkt.2 + 20 2406 c.2215T>C c.(2215-2217)TAC>CAC p.Y739H WDR63_uc009wcl.2_Missense_Mutation_p.Y700H NM_145172 NP_660155 F7 2155 broad.mit.edu 37 13 113762696 113762696 + Intron SNP T A A 2011-2312:2012-361-T g.chr13:113762696T>A uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 F7 2155 broad.mit.edu 37 13 113763406 113763406 + Intron SNP G A A 2011-2312:2012-361-T g.chr13:113763406G>A uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 SYNE2 23224 broad.mit.edu 37 14 64340877 64340877 + Intron SNP A G G rs8016321 by1000genomes 2011-2312:2012-361-T g.chr14:64340877A>G uc001xgm.2 + SYNE2_uc001xgk.2_Intron|SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 FOXN3 1112 broad.mit.edu 37 14 89828449 89828449 + Intron SNP G C C 2011-2312:2012-361-T g.chr14:89828449G>C uc001xxo.3 - FOXN3_uc001xxn.3_Intron|FOXN3_uc010atk.2_Intron NM_001085471 NP_001078940 LMF1 64788 broad.mit.edu 37 16 907924 907924 + Intron SNP T A A 2011-2312:2012-361-T g.chr16:907924T>A uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 907993 907993 + Intron SNP T A A 2011-2312:2012-361-T g.chr16:907993T>A uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 KLHDC4 54758 broad.mit.edu 37 16 87773092 87773092 + Intron SNP C T T 2011-2312:2012-361-T g.chr16:87773092C>T uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 ABR 29 broad.mit.edu 37 17 1021217 1021217 + Intron SNP C T T 2011-2312:2012-361-T g.chr17:1021217C>T uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 TP53 7157 broad.mit.edu 37 17 7576855 7576855 + Nonsense_Mutation SNP G A A 2011-2312:2012-361-T g.chr17:7576855G>A uc002gim.2 - 9 1185 c.991C>T c.(991-993)CAG>TAG p.Q331* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.Q331*|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Nonsense_Mutation_p.Q199*|TP53_uc010cng.1_Nonsense_Mutation_p.Q199*|TP53_uc002gii.1_Nonsense_Mutation_p.Q199*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q331*|TP53_uc010cni.1_Nonsense_Mutation_p.Q331*|TP53_uc002gij.2_Nonsense_Mutation_p.Q331* NM_001126112 NP_001119584 CACNG7 59284 broad.mit.edu 37 19 54424833 54424833 + Intron SNP C T T 2011-2312:2012-361-T g.chr19:54424833C>T uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 CACNG7 59284 broad.mit.edu 37 19 54424886 54424886 + Intron SNP C T T 2011-2312:2012-361-T g.chr19:54424886C>T uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 RMND5A 64795 broad.mit.edu 37 2 87642617 87642617 + Intron SNP G A A 2011-2312:2012-361-T g.chr2:87642617G>A uc002srs.3 + TTN 7273 broad.mit.edu 37 2 179590747 179590747 + Missense_Mutation SNP G T T 2011-2312:2012-361-T g.chr2:179590747G>T uc010zfg.1 - 67 16794 c.16570C>A c.(16570-16572)CCT>ACT p.P5524T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P2185T NM_133378 NP_596869 C2orf83 56918 broad.mit.edu 37 2 228482399 228482399 + Intron SNP C T T 2011-2312:2012-361-T g.chr2:228482399C>T uc002vph.2 - C2orf83_uc010zlu.1_Intron NM_020161 NP_064546 EP300 2033 broad.mit.edu 37 22 41568480 41568480 + Intron SNP T C C rs2076577 by1000genomes 2011-2312:2012-361-T g.chr22:41568480T>C uc003azl.3 + NM_001429 NP_001420 MLC1 23209 broad.mit.edu 37 22 50500636 50500636 + Intron SNP G A A rs144177767 by1000genomes 2011-2312:2012-361-T g.chr22:50500636G>A uc003bjg.1 - MLC1_uc011arl.1_Intron|MLC1_uc003bjh.1_Intron|MLC1_uc011arm.1_Intron|MLC1_uc011arn.1_Intron|MLC1_uc011aro.1_Intron NM_139202 NP_631941 SI 6476 broad.mit.edu 37 3 164737487 164737487 + Missense_Mutation SNP T A A 2011-2312:2012-361-T g.chr3:164737487T>A uc003fei.2 - 28 3388 c.3326A>T c.(3325-3327)GAA>GTA p.E1109V NM_001041 NP_001032 SI 6476 broad.mit.edu 37 3 164796343 164796343 + 5'Flank SNP T C C rs7629658 by1000genomes 2011-2312:2012-361-T g.chr3:164796343T>C uc003fei.2 - NM_001041 NP_001032 PCDHA2 56146 broad.mit.edu 37 5 140174708 140174708 + Silent SNP G A A 2011-2312:2012-361-T g.chr5:140174708G>A uc003lhd.2 + 1 265 c.159G>A c.(157-159)GGG>GGA p.G53G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.G53G|PCDHA2_uc011czy.1_Silent_p.G53G NM_018905 NP_061728 PCDHA2 56146 broad.mit.edu 37 5 140174714 140174714 + Missense_Mutation SNP G T T 2011-2312:2012-361-T g.chr5:140174714G>T uc003lhd.2 + 1 271 c.165G>T c.(163-165)GAG>GAT p.E55D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.E55D|PCDHA2_uc011czy.1_Missense_Mutation_p.E55D NM_018905 NP_061728 HLA-G 3135 broad.mit.edu 37 6 29894580 29894580 + Intron SNP T G G rs113887501 2011-2312:2012-361-T g.chr6:29894580T>G uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HCG4P6_uc003noh.1_5'Flank|uc003noi.2_RNA NM_002127 NP_002118 SYNE1 23345 broad.mit.edu 37 6 152453094 152453094 + Intron SNP G A A rs2295193 by1000genomes 2011-2312:2012-361-T g.chr6:152453094G>A uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qop.3_Intron|SYNE1_uc011eez.1_Intron|SYNE1_uc003qoq.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 WBSCR17 64409 broad.mit.edu 37 7 70597454 70597454 + 5'Flank SNP G C C 2011-2312:2012-361-T g.chr7:70597454G>C uc003tvy.2 + NM_022479 NP_071924 WDR86 349136 broad.mit.edu 37 7 151094874 151094874 + Intron SNP A G G rs71531420 2011-2312:2012-361-T g.chr7:151094874A>G uc003wkb.2 - WDR86_uc003wka.2_Intron|WDR86_uc011kvk.1_Intron|WDR86_uc003wkc.2_Intron NM_198285 NP_938026 PTPRN2 5799 broad.mit.edu 37 7 157509700 157509700 + Intron SNP C T T rs71538050 2011-2312:2012-361-T g.chr7:157509700C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PDE4DIP 9659 broad.mit.edu 37 1 144892566 144892566 + Missense_Mutation SNP C T T rs151273118 2011-2313:2012-360-T g.chr1:144892566C>T uc001elw.3 - 22 3130 c.2839G>A c.(2839-2841)GAA>AAA p.E947K NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E1013K|PDE4DIP_uc001emc.1_Missense_Mutation_p.E947K|PDE4DIP_uc001emd.1_Missense_Mutation_p.E947K|PDE4DIP_uc001elv.3_5'UTR|PDE4DIP_uc001emb.1_Missense_Mutation_p.E1110K NM_014644 NP_055459 USH2A 7399 broad.mit.edu 37 1 215953099 215953099 + Intron SNP C G G 2011-2313:2012-360-T g.chr1:215953099C>G uc001hku.1 - NM_206933 NP_996816 MUC2 4583 broad.mit.edu 37 11 1092954 1092954 + Silent SNP G A A 2011-2313:2012-360-T g.chr11:1092954G>A uc001lsx.1 + 31 11886 c.11859G>A c.(11857-11859)ACG>ACA p.T3953T NM_002457 NP_002448 MUC2 4583 broad.mit.edu 37 11 1092973 1092973 + Missense_Mutation SNP C T T 2011-2313:2012-360-T g.chr11:1092973C>T uc001lsx.1 + 31 11905 c.11878C>T c.(11878-11880)CCC>TCC p.P3960S NM_002457 NP_002448 ASCL4 121549 broad.mit.edu 37 12 108168272 108168272 + 5'UTR SNP G A A 2011-2313:2012-360-T g.chr12:108168272G>A uc001tmr.2 + 1 NM_203436 NP_982260 F7 2155 broad.mit.edu 37 13 113762077 113762077 + Intron SNP C G G 2011-2313:2012-360-T g.chr13:113762077C>G uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 INO80 54617 broad.mit.edu 37 15 41324206 41324206 + Intron SNP C G G 2011-2313:2012-360-T g.chr15:41324206C>G uc001zni.2 - INO80_uc010ucu.1_Intron NM_017553 NP_060023 LMF1 64788 broad.mit.edu 37 16 999993 999993 + Intron SNP A C C 2011-2313:2012-360-T g.chr16:999993A>C uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 C1QTNF8 390664 broad.mit.edu 37 16 1142977 1142977 + Intron SNP C G G 2011-2313:2012-360-T g.chr16:1142977C>G uc010uuw.1 - NM_207419 NP_997302 RPL3L 6123 broad.mit.edu 37 16 1999930 1999930 + Intron SNP A G G 2011-2313:2012-360-T g.chr16:1999930A>G uc002cnh.2 - NM_005061 NP_005052 ABAT 18 broad.mit.edu 37 16 8875189 8875189 + Missense_Mutation SNP G A A 2011-2313:2012-360-T g.chr16:8875189G>A uc002czc.3 + 16 1571 c.1405G>A c.(1405-1407)GAC>AAC p.D469N ABAT_uc002czd.3_Missense_Mutation_p.D469N|ABAT_uc010buh.2_Missense_Mutation_p.D411N|ABAT_uc010bui.2_Missense_Mutation_p.D469N NM_020686 NP_065737 ANKRD11 29123 broad.mit.edu 37 16 89372186 89372186 + Intron SNP C T T 2011-2313:2012-360-T g.chr16:89372186C>T uc002fmx.1 - ANKRD11_uc002fmy.1_Intron|ANKRD11_uc002fnc.1_Intron|ANKRD11_uc002fnd.2_Intron|ANKRD11_uc002fne.2_Intron|ANKRD11_uc002fng.1_Intron|ANKRD11_uc002fnf.1_Intron NM_013275 NP_037407 ANKRD11 29123 broad.mit.edu 37 16 89372197 89372197 + Intron SNP C T T 2011-2313:2012-360-T g.chr16:89372197C>T uc002fmx.1 - ANKRD11_uc002fmy.1_Intron|ANKRD11_uc002fnc.1_Intron|ANKRD11_uc002fnd.2_Intron|ANKRD11_uc002fne.2_Intron|ANKRD11_uc002fng.1_Intron|ANKRD11_uc002fnf.1_Intron NM_013275 NP_037407 RPH3AL 9501 broad.mit.edu 37 17 138234 138234 + Intron SNP G A A 2011-2313:2012-360-T g.chr17:138234G>A uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 PRKCA 5578 broad.mit.edu 37 17 64734940 64734940 + Missense_Mutation SNP A G G 2011-2313:2012-360-T g.chr17:64734940A>G uc002jfp.1 + 11 1333 c.1289A>G c.(1288-1290)CAG>CGG p.Q430R PRKCA_uc002jfo.1_Missense_Mutation_p.Q301R NM_002737 NP_002728 CACNG7 59284 broad.mit.edu 37 19 54424216 54424216 + Intron SNP C G G 2011-2313:2012-360-T g.chr19:54424216C>G uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 LTBP1 4052 broad.mit.edu 37 2 33359746 33359746 + Intron SNP C T T 2011-2313:2012-360-T g.chr2:33359746C>T uc002ros.2 + LTBP1_uc002rot.2_5'UTR|LTBP1_uc002rou.2_5'UTR|LTBP1_uc002rov.2_5'UTR|LTBP1_uc010ymz.1_5'UTR|LTBP1_uc010yna.1_5'UTR NM_206943 NP_996826 RMND5A 64795 broad.mit.edu 37 2 87623376 87623376 + Intron SNP G A A 2011-2313:2012-360-T g.chr2:87623376G>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87633489 87633489 + Intron SNP G A A 2011-2313:2012-360-T g.chr2:87633489G>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87634181 87634181 + Intron SNP G A A 2011-2313:2012-360-T g.chr2:87634181G>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87644696 87644696 + Intron SNP C G G 2011-2313:2012-360-T g.chr2:87644696C>G uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87645932 87645932 + Intron SNP C T T 2011-2313:2012-360-T g.chr2:87645932C>T uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87645970 87645970 + Intron SNP C A A 2011-2313:2012-360-T g.chr2:87645970C>A uc002srs.3 + TTN 7273 broad.mit.edu 37 2 179497756 179497756 + Missense_Mutation SNP C T T 2011-2313:2012-360-T g.chr2:179497756C>T uc010zfg.1 - 183 35622 c.35398G>A c.(35398-35400)GAG>AAG p.E11800K TTN_uc010zfh.1_Missense_Mutation_p.E5495K|TTN_uc010zfi.1_Missense_Mutation_p.E5428K|TTN_uc010zfj.1_Missense_Mutation_p.E5303K NM_133378 NP_596869 PMS1 5378 broad.mit.edu 37 2 190649449 190649449 + Intron SNP G A A 2011-2313:2012-360-T g.chr2:190649449G>A uc002urh.3 + PMS1_uc010zga.1_Intron|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.3_Intron|PMS1_uc002uri.3_Intron|PMS1_uc010zgc.1_Intron|PMS1_uc010zgd.1_Intron|PMS1_uc002urj.2_Intron|ORMDL1_uc002urb.3_5'Flank|ORMDL1_uc002urc.3_5'Flank|ORMDL1_uc002urd.3_5'Flank|ORMDL1_uc002ure.3_5'Flank|ORMDL1_uc002urf.3_5'Flank|PMS1_uc010zfz.1_Intron NM_000534 NP_000525 MAP2 4133 broad.mit.edu 37 2 210598062 210598062 + 3'UTR SNP G A A 2011-2313:2012-360-T g.chr2:210598062G>A uc002vde.1 + 15 MAP2_uc002vdd.1_3'UTR|MAP2_uc002vdf.1_3'UTR|MAP2_uc002vdg.1_3'UTR|MAP2_uc002vdh.1_3'UTR|MAP2_uc002vdi.1_3'UTR NM_002374 NP_002365 C20orf26 26074 broad.mit.edu 37 20 20336950 20336950 + Intron SNP G T T rs73607409 2011-2313:2012-360-T g.chr20:20336950G>T uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 BAGE2 85319 broad.mit.edu 37 21 11049346 11049346 + Intron SNP C T T 2011-2313:2012-360-T g.chr21:11049346C>T uc002yit.1 - NM_182482 NP_872288 DSCAM 1826 broad.mit.edu 37 21 41711285 41711285 + Missense_Mutation SNP G A A 2011-2313:2012-360-T g.chr21:41711285G>A uc002yyq.1 - 7 1720 c.1268C>T c.(1267-1269)CCG>CTG p.P423L DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 CHEK2 11200 broad.mit.edu 37 22 29105856 29105856 + Intron SNP G A A 2011-2313:2012-360-T g.chr22:29105856G>A uc003adu.1 - CHEK2_uc003ads.1_Intron|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Intron|CHEK2_uc010gvk.1_Intron|CHEK2_uc003adt.1_Intron|CHEK2_uc003adv.1_Intron|CHEK2_uc003adw.1_Intron|CHEK2_uc003adx.1_Intron|CHEK2_uc003ady.1_Intron|CHEK2_uc003adz.1_Intron NM_007194 NP_009125 SAPS2 9701 broad.mit.edu 37 22 50819744 50819744 + Intron SNP C T T 2011-2313:2012-360-T g.chr22:50819744C>T uc003blb.1 + SAPS2_uc003bky.1_Intron|SAPS2_uc003bkz.1_Intron|SAPS2_uc003blc.2_Intron|SAPS2_uc003bla.1_Intron NM_014678 NP_055493 FANCD2 2177 broad.mit.edu 37 3 10108835 10108835 + Intron SNP T C C rs116962388 by1000genomes 2011-2313:2012-360-T g.chr3:10108835T>C uc003buw.2 + FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron NM_033084 NP_149075 PBRM1 55193 broad.mit.edu 37 3 52696158 52696158 + Silent SNP C T T 2011-2313:2012-360-T g.chr3:52696158C>T uc003des.2 - 4 531 c.519G>A c.(517-519)GTG>GTA p.V173V PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Silent_p.V173V|PBRM1_uc003der.2_Silent_p.V173V|PBRM1_uc003det.2_Silent_p.V173V|PBRM1_uc003deu.2_Silent_p.V173V|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.V173V|PBRM1_uc010hmk.1_Silent_p.V173V|PBRM1_uc003dey.2_Silent_p.V173V|PBRM1_uc003dez.1_Silent_p.V173V|PBRM1_uc003dfb.1_Silent_p.V71V NM_181042 NP_060635 SI 6476 broad.mit.edu 37 3 164777098 164777098 + Intron SNP G C C 2011-2313:2012-360-T g.chr3:164777098G>C uc003fei.2 - NM_001041 NP_001032 SI 6476 broad.mit.edu 37 3 164786935 164786935 + Missense_Mutation SNP G C C 2011-2313:2012-360-T g.chr3:164786935G>C uc003fei.2 - 4 366 c.304C>G c.(304-306)CTT>GTT p.L102V NM_001041 NP_001032 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 2011-2313:2012-360-T g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 MUC4 4585 broad.mit.edu 37 3 195502763 195502763 + Intron SNP A T T 2011-2313:2012-360-T g.chr3:195502763A>T uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 SORBS2 8470 broad.mit.edu 37 4 186717994 186717994 + Intron SNP G A A 2011-2313:2012-360-T g.chr4:186717994G>A uc003iyl.2 - SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Intron|SORBS2_uc011cky.1_Intron|SORBS2_uc003iyp.2_Intron NM_021069 NP_066547 TRIO 7204 broad.mit.edu 37 5 14290805 14290805 + Intron SNP G A A rs30629 by1000genomes 2011-2313:2012-360-T g.chr5:14290805G>A uc003jff.2 + TRIO_uc003jfg.2_Intron|TRIO_uc011cna.1_Intron|TRIO_uc003jfh.1_5'Flank NM_007118 NP_009049 CDHR2 54825 broad.mit.edu 37 5 176018925 176018925 + Intron SNP T G G 2011-2313:2012-360-T g.chr5:176018925T>G uc003mem.1 + CDHR2_uc003men.1_Intron NM_017675 NP_060145 FAM120B 84498 broad.mit.edu 37 6 170686427 170686427 + Intron SNP T C C 2011-2313:2012-360-T g.chr6:170686427T>C uc003qxp.2 + FAM120B_uc003qxo.1_Intron|FAM120B_uc011ehd.1_Intron|FAM120B_uc010kla.1_Intron NM_032448 NP_115824 PTPRN2 5799 broad.mit.edu 37 7 157524862 157524862 + Intron SNP C A A 2011-2313:2012-360-T g.chr7:157524862C>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158067064 158067064 + Intron SNP A G G rs111239251 2011-2313:2012-360-T g.chr7:158067064A>G uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PLAG1 5324 broad.mit.edu 37 8 57079603 57079603 + Silent SNP C T T 2011-2313:2012-360-T g.chr8:57079603C>T uc003xsq.3 - 3 1153 c.702G>A c.(700-702)AAG>AAA p.K234K PLAG1_uc003xsr.3_Silent_p.K234K|PLAG1_uc010lyi.2_Silent_p.K234K|PLAG1_uc010lyj.2_Silent_p.K152K NM_001114635 NP_001108107 ZFHX4 79776 broad.mit.edu 37 8 77764291 77764291 + Missense_Mutation SNP C A A 2011-2313:2012-360-T g.chr8:77764291C>A uc003yav.2 + 10 5386 c.4999C>A c.(4999-5001)CAG>AAG p.Q1667K ZFHX4_uc003yau.1_Missense_Mutation_p.Q1712K|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q1667K NM_024721 NP_078997 CSMD3 114788 broad.mit.edu 37 8 113568881 113568881 + Intron SNP C T T 2011-2313:2012-360-T g.chr8:113568881C>T uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113966981 113966981 + Missense_Mutation SNP G T T 2011-2313:2012-360-T g.chr8:113966981G>T uc003ynu.2 - 8 1511 c.1352C>A c.(1351-1353)GCC>GAC p.A451D CSMD3_uc003ynt.2_Missense_Mutation_p.A411D|CSMD3_uc011lhx.1_Missense_Mutation_p.A347D NM_198123 NP_937756 TRAPPC9 83696 broad.mit.edu 37 8 141120653 141120653 + Intron SNP A G G 2011-2313:2012-360-T g.chr8:141120653A>G uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 ARHGAP39 80728 broad.mit.edu 37 8 145851319 145851319 + Intron SNP C T T 2011-2313:2012-360-T g.chr8:145851319C>T uc011llk.1 - NM_025251 NP_079527 NUP214 8021 broad.mit.edu 37 9 134015899 134015899 + Intron SNP C G G rs2281902 by1000genomes 2011-2313:2012-360-T g.chr9:134015899C>G uc004cag.2 + NUP214_uc004cah.2_Intron|NUP214_uc004caf.1_Intron NM_005085 NP_005076 HEPH 9843 broad.mit.edu 37 X 65423203 65423203 + Intron SNP C A A rs147730802 by1000genomes 2011-2313:2012-360-T g.chrX:65423203C>A uc011moz.1 + HEPH_uc004dwn.2_Intron|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Intron|HEPH_uc010nks.2_5'Flank NM_138737 NP_620074 SCNN1D 6339 broad.mit.edu 37 1 1223826 1223826 + Intron SNP T C C 2011-2314:2012-359-T g.chr1:1223826T>C uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 PRDM16 63976 broad.mit.edu 37 1 3296004 3296004 + Intron SNP G A A 2011-2314:2012-359-T g.chr1:3296004G>A uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 MEGF6 1953 broad.mit.edu 37 1 3499931 3499931 + Intron SNP C T T 2011-2314:2012-359-T g.chr1:3499931C>T uc001akl.2 - NM_001409 NP_001400 GRHL3 57822 broad.mit.edu 37 1 24671766 24671766 + Intron SNP C G G rs75399360 2011-2314:2012-359-T g.chr1:24671766C>G uc001biy.2 + GRHL3_uc001bix.2_Intron|GRHL3_uc001biz.2_Intron NM_021180 NP_067003 COL11A1 1301 broad.mit.edu 37 1 103491867 103491867 + Missense_Mutation SNP C T T 2011-2314:2012-359-T g.chr1:103491867C>T uc001dul.2 - 6 1120 c.802G>A c.(802-804)GAA>AAA p.E268K COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Intron|COL11A1_uc001dun.2_Intron|COL11A1_uc009weh.2_Missense_Mutation_p.E268K NM_001854 NP_001845 LOC200030 200030 broad.mit.edu 37 1 148346783 148346783 + 5'UTR SNP A G G 2011-2314:2012-359-T g.chr1:148346783A>G uc001eqf.2 - 1 LOC200030_uc001eqe.2_5'UTR|LOC200030_uc001eqg.2_5'UTR|NBPF14_uc009wkf.1_RNA|uc001erd.3_5'UTR|uc001erc.3_RNA|uc010paj.1_5'UTR|uc010pav.1_5'UTR|uc010paw.1_5'UTR NM_017940 NP_060410 FAIM3 9214 broad.mit.edu 37 1 207097778 207097778 + 5'Flank SNP T C C 2011-2314:2012-359-T g.chr1:207097778T>C uc001hey.2 - FAIM3_uc010prz.1_5'Flank|FAIM3_uc010psa.1_5'Flank|FAIM3_uc010psb.1_5'Flank NM_005449 NP_005440 USH2A 7399 broad.mit.edu 37 1 215824212 215824212 + Intron SNP G A A 2011-2314:2012-359-T g.chr1:215824212G>A uc001hku.1 - NM_206933 NP_996816 SMYD3 64754 broad.mit.edu 37 1 246139923 246139923 + Intron SNP C T T 2011-2314:2012-359-T g.chr1:246139923C>T uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 ADARB2 105 broad.mit.edu 37 10 1502295 1502295 + Intron SNP G C C 2011-2314:2012-359-T g.chr10:1502295G>C uc009xhq.2 - NM_018702 NP_061172 ANXA8 653145 broad.mit.edu 37 10 47023295 47023295 + Intron SNP T C C 2011-2314:2012-359-T g.chr10:47023295T>C uc001jed.3 - CRTAC1 55118 broad.mit.edu 37 10 99660522 99660522 + Intron SNP C T T 2011-2314:2012-359-T g.chr10:99660522C>T uc001kou.1 - CRTAC1_uc001kov.2_Intron|CRTAC1_uc001kot.1_Intron NM_018058 NP_060528 LHPP 64077 broad.mit.edu 37 10 126299465 126299465 + Intron SNP A C C 2011-2314:2012-359-T g.chr10:126299465A>C uc001lhs.1 + LHPP_uc001lht.1_Intron|LHPP_uc009yai.1_Intron|LHPP_uc009yaj.1_Intron NM_022126 NP_071409 LSP1 4046 broad.mit.edu 37 11 1895165 1895165 + Intron SNP A G G rs111312679 2011-2314:2012-359-T g.chr11:1895165A>G uc001lui.2 + LSP1_uc001luj.2_Intron|LSP1_uc001luk.2_Intron|LSP1_uc001lul.2_Intron|LSP1_uc001lum.2_Intron NM_002339 NP_002330 NAV3 89795 broad.mit.edu 37 12 78224965 78224965 + 5'Flank SNP G C C 2011-2314:2012-359-T g.chr12:78224965G>C uc001syp.2 + NAV3_uc001syo.2_5'Flank NM_014903 NP_055718 RB1 5925 broad.mit.edu 37 13 48955336 48955336 + Intron SNP C T T 2011-2314:2012-359-T g.chr13:48955336C>T uc001vcb.2 + NM_000321 NP_000312 TDRD3 81550 broad.mit.edu 37 13 61060092 61060092 + Intron SNP C T T 2011-2314:2012-359-T g.chr13:61060092C>T uc001via.2 + TDRD3_uc010aef.2_Intron|TDRD3_uc001vhz.3_Intron|TDRD3_uc010aeg.2_Intron|TDRD3_uc001vib.3_Intron NM_030794 NP_110421 FOXN3 1112 broad.mit.edu 37 14 89827177 89827177 + Intron SNP T C C 2011-2314:2012-359-T g.chr14:89827177T>C uc001xxo.3 - FOXN3_uc001xxn.3_Intron|FOXN3_uc010atk.2_Intron NM_001085471 NP_001078940 FOXN3 1112 broad.mit.edu 37 14 89828283 89828283 + Intron SNP T A A 2011-2314:2012-359-T g.chr14:89828283T>A uc001xxo.3 - FOXN3_uc001xxn.3_Intron|FOXN3_uc010atk.2_Intron NM_001085471 NP_001078940 RIN3 79890 broad.mit.edu 37 14 93106449 93106449 + Intron SNP A G G 2011-2314:2012-359-T g.chr14:93106449A>G uc001yap.2 + RIN3_uc010auk.2_Intron|RIN3_uc001yaq.2_Intron NM_024832 NP_079108 TMEM8A 58986 broad.mit.edu 37 16 428302 428302 + Intron SNP C A A 2011-2314:2012-359-T g.chr16:428302C>A uc002cgu.3 - TMEM8A_uc002cgv.3_Intron NM_021259 NP_067082 LMF1 64788 broad.mit.edu 37 16 907606 907606 + Intron SNP C T T 2011-2314:2012-359-T g.chr16:907606C>T uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 908058 908058 + Intron SNP G A A 2011-2314:2012-359-T g.chr16:908058G>A uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 909209 909209 + Intron SNP T A A 2011-2314:2012-359-T g.chr16:909209T>A uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 CDH11 1009 broad.mit.edu 37 16 65032710 65032710 + Missense_Mutation SNP G A A 2011-2314:2012-359-T g.chr16:65032710G>A uc002eoi.2 - 4 712 c.278C>T c.(277-279)TCA>TTA p.S93L CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.S93L|CDH11_uc010vin.1_5'UTR|CDH11_uc010vio.1_Missense_Mutation_p.S93L NM_001797 NP_001788 ABR 29 broad.mit.edu 37 17 1046534 1046534 + Intron SNP C T T 2011-2314:2012-359-T g.chr17:1046534C>T uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 MYH13 8735 broad.mit.edu 37 17 10219114 10219114 + Nonsense_Mutation SNP G A A 2011-2314:2012-359-T g.chr17:10219114G>A uc002gmk.1 - 29 3970 c.3880C>T c.(3880-3882)CGA>TGA p.R1294* NM_003802 NP_003793 PRKCA 5578 broad.mit.edu 37 17 64794732 64794732 + Intron SNP G A A 2011-2314:2012-359-T g.chr17:64794732G>A uc002jfp.1 + NM_002737 NP_002728 PRKCA 5578 broad.mit.edu 37 17 64794963 64794963 + Intron SNP G A A 2011-2314:2012-359-T g.chr17:64794963G>A uc002jfp.1 + NM_002737 NP_002728 PRKCA 5578 broad.mit.edu 37 17 64795341 64795341 + Intron SNP G A A 2011-2314:2012-359-T g.chr17:64795341G>A uc002jfp.1 + NM_002737 NP_002728 KIAA1468 57614 broad.mit.edu 37 18 59949614 59949614 + Missense_Mutation SNP A G G 2011-2314:2012-359-T g.chr18:59949614A>G uc002lil.2 + 25 3405 c.3190A>G c.(3190-3192)ACA>GCA p.T1064A KIAA1468_uc010xel.1_Missense_Mutation_p.T1064A|KIAA1468_uc002lim.2_Missense_Mutation_p.T742A NM_020854 NP_065905 BCL2 596 broad.mit.edu 37 18 60865818 60865818 + Intron SNP T C C 2011-2314:2012-359-T g.chr18:60865818T>C uc002lit.1 - BCL2_uc002liu.1_Intron NM_000633 NP_000624 BCL2 596 broad.mit.edu 37 18 60865884 60865884 + Intron SNP C T T 2011-2314:2012-359-T g.chr18:60865884C>T uc002lit.1 - BCL2_uc002liu.1_Intron NM_000633 NP_000624 PQLC1 80148 broad.mit.edu 37 18 77676017 77676017 + Intron SNP C G G rs113616038 2011-2314:2012-359-T g.chr18:77676017C>G uc002lnl.2 - PQLC1_uc010dre.2_Intron|PQLC1_uc002lnk.2_Intron|PQLC1_uc010xfm.1_Intron|uc002lnm.1_RNA NM_025078 NP_079354 NLRP12 91662 broad.mit.edu 37 19 54312033 54312033 + Intron SNP C T T 2011-2314:2012-359-T g.chr19:54312033C>T uc002qch.3 - NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Intron|NLRP12_uc002qcj.3_Intron|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron NM_144687 NP_653288 TSSC1 7260 broad.mit.edu 37 2 3243877 3243877 + Intron SNP A G G 2011-2314:2012-359-T g.chr2:3243877A>G uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 HPCAL1 3241 broad.mit.edu 37 2 10539414 10539414 + Intron SNP A T T 2011-2314:2012-359-T g.chr2:10539414A>T uc002raj.2 + HPCAL1_uc002rak.2_Intron|HPCAL1_uc002ral.2_Intron|HPCAL1_uc010exe.2_Intron|HPCAL1_uc010exf.2_Intron NM_002149 NP_002140 RMND5A 64795 broad.mit.edu 37 2 87633489 87633489 + Intron SNP G A A 2011-2314:2012-359-T g.chr2:87633489G>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87634181 87634181 + Intron SNP G A A 2011-2314:2012-359-T g.chr2:87634181G>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87641654 87641654 + Intron SNP C G G 2011-2314:2012-359-T g.chr2:87641654C>G uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87642514 87642514 + Intron SNP G A A 2011-2314:2012-359-T g.chr2:87642514G>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87644201 87644201 + Intron SNP C A A 2011-2314:2012-359-T g.chr2:87644201C>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87656072 87656072 + Intron SNP C G G 2011-2314:2012-359-T g.chr2:87656072C>G uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87656471 87656471 + Intron SNP C T T 2011-2314:2012-359-T g.chr2:87656471C>T uc002srs.3 + PTTG1IP 754 broad.mit.edu 37 21 46283065 46283065 + Intron SNP C G G 2011-2314:2012-359-T g.chr21:46283065C>G uc002zgb.1 - PTTG1IP_uc011afj.1_Intron|PTTG1IP_uc011afk.1_Intron NM_004339 NP_004330 MICAL3 57553 broad.mit.edu 37 22 18360016 18360016 + Intron SNP T G G 2011-2314:2012-359-T g.chr22:18360016T>G uc002zng.3 - MICAL3_uc011agl.1_Intron|MICAL3_uc002znh.2_Intron|MICAL3_uc002znj.1_Intron|MICAL3_uc002znk.1_Intron|MICAL3_uc002znl.1_Intron|MICAL3_uc002znm.2_Intron|MICAL3_uc010grf.2_Intron NM_015241 NP_056056 EP300 2033 broad.mit.edu 37 22 41574535 41574535 + Nonsense_Mutation SNP C T T 2011-2314:2012-359-T g.chr22:41574535C>T uc003azl.3 + 31 7215 c.6820C>T c.(6820-6822)CAG>TAG p.Q2274* NM_001429 NP_001420 CNTN6 27255 broad.mit.edu 37 3 1369185 1369185 + Silent SNP G C C 2011-2314:2012-359-T g.chr3:1369185G>C uc003boz.2 + 10 1395 c.1128G>C c.(1126-1128)CTG>CTC p.L376L CNTN6_uc011asj.1_Silent_p.L304L|CNTN6_uc003bpa.2_Silent_p.L376L NM_014461 NP_055276 FANCD2 2177 broad.mit.edu 37 3 10068130 10068130 + 5'UTR SNP G A A 2011-2314:2012-359-T g.chr3:10068130G>A uc003buw.2 + 1 CIDEC_uc003bto.2_5'Flank|FANCD2_uc003bux.1_5'UTR|FANCD2_uc003buy.1_5'Flank|CIDECP_uc003bus.2_5'Flank|CIDECP_uc003but.2_5'Flank|CIDECP_uc003buu.1_5'Flank|FANCD2_uc003buv.2_5'UTR NM_033084 NP_149075 RAF1 5894 broad.mit.edu 37 3 12706111 12706111 + 5'Flank SNP G A A 2011-2314:2012-359-T g.chr3:12706111G>A uc003bxf.3 - RAF1_uc011auu.1_5'Flank NM_002880 NP_002871 EPHA3 2042 broad.mit.edu 37 3 89156378 89156378 + 5'Flank SNP G A A 2011-2314:2012-359-T g.chr3:89156378G>A uc003dqy.2 + EPHA3_uc003dqx.1_5'Flank|EPHA3_uc010hon.1_5'Flank NM_005233 NP_005224 PIK3CA 5290 broad.mit.edu 37 3 178916624 178916624 + Missense_Mutation SNP G A A 2011-2314:2012-359-T g.chr3:178916624G>A uc003fjk.2 + 2 168 c.11G>A c.(10-12)CGA>CAA p.R4Q NM_006218 NP_006209 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 2011-2314:2012-359-T g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 DGKG 1608 broad.mit.edu 37 3 186080448 186080448 + 5'Flank SNP C G G 2011-2314:2012-359-T g.chr3:186080448C>G uc003fqa.2 - DGKG_uc003fqb.2_5'Flank|DGKG_uc003fqc.2_5'Flank|DGKG_uc011brx.1_5'Flank NM_001346 NP_001337 TP63 8626 broad.mit.edu 37 3 189455644 189455644 + Missense_Mutation SNP G A A 2011-2314:2012-359-T g.chr3:189455644G>A uc003fry.2 + 2 267 c.178G>A c.(178-180)GAT>AAT p.D60N TP63_uc003frx.2_Missense_Mutation_p.D60N|TP63_uc003frz.2_Missense_Mutation_p.D60N|TP63_uc010hzc.1_Missense_Mutation_p.D60N NM_003722 NP_003713 MUC4 4585 broad.mit.edu 37 3 195504395 195504395 + Intron SNP C T T 2011-2314:2012-359-T g.chr3:195504395C>T uc011bto.1 - MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 FBXW7 55294 broad.mit.edu 37 4 153247096 153247096 + Intron SNP C A A 2011-2314:2012-359-T g.chr4:153247096C>A uc003ims.2 - FBXW7_uc011cii.1_Intron|FBXW7_uc003imt.2_Intron|FBXW7_uc011cih.1_Intron|FBXW7_uc003imq.2_Intron|FBXW7_uc003imr.2_Intron NM_033632 NP_361014 AHRR 57491 broad.mit.edu 37 5 397428 397429 + Intron DNP CT AC AC 2011-2314:2012-359-T g.chr5:397428_397429CT>AC uc003jav.2 + AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Intron NM_020731 NP_065782 BPHL 670 broad.mit.edu 37 6 3146166 3146166 + Intron SNP T G G 2011-2314:2012-359-T g.chr6:3146166T>G uc003mva.2 + BPHL_uc003muz.2_Intron|BPHL_uc011dht.1_Intron|BPHL_uc003muy.2_Intron NM_004332 NP_004323 HIST1H4H 8365 broad.mit.edu 37 6 26286087 26286087 + 5'Flank SNP G A A 2011-2314:2012-359-T g.chr6:26286087G>A uc003nhm.2 - HIST1H4H_uc003nhl.1_5'Flank NM_003543 NP_003534 HLA-G 3135 broad.mit.edu 37 6 29795951 29795951 + Silent SNP G A A 2011-2314:2012-359-T g.chr6:29795951G>A uc003nnw.2 + 3 379 c.201G>A c.(199-201)CCG>CCA p.P67P HLA-G_uc011dmb.1_Silent_p.P39P|HLA-G_uc003raj.3_Silent_p.P72P|HLA-G_uc003nnz.3_Silent_p.P67P|HLA-G_uc010jrn.2_Silent_p.P67P|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 HLA-A 3105 broad.mit.edu 37 6 29910587 29910587 + Nonsense_Mutation SNP G T T rs41549014 2011-2314:2012-359-T g.chr6:29910587G>T uc003nol.2 + 2 127 c.127G>T c.(127-129)GAG>TAG p.E43* HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Nonsense_Mutation_p.E43*|HLA-A_uc003noo.2_Nonsense_Mutation_p.E43*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.E43*|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Nonsense_Mutation_p.E15*|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank NM_002116 NP_002107 SCML4 256380 broad.mit.edu 37 6 108103903 108103903 + Intron SNP C G G 2011-2314:2012-359-T g.chr6:108103903C>G uc010kdf.2 - SCML4_uc003prz.3_Intron|SCML4_uc011eam.1_Intron NM_198081 NP_932347 SDK1 221935 broad.mit.edu 37 7 3621696 3621696 + Intron SNP T C C 2011-2314:2012-359-T g.chr7:3621696T>C uc003smx.2 + NM_152744 NP_689957 PCLO 27445 broad.mit.edu 37 7 82595479 82595479 + Nonsense_Mutation SNP G A A rs76361255 2011-2314:2012-359-T g.chr7:82595479G>A uc003uhx.2 - 4 3914 c.3625C>T c.(3625-3627)CAA>TAA p.Q1209* PCLO_uc003uhv.2_Nonsense_Mutation_p.Q1209* NM_033026 NP_149015 PTPRN2 5799 broad.mit.edu 37 7 157851125 157851125 + Intron SNP C T T 2011-2314:2012-359-T g.chr7:157851125C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157851140 157851140 + Intron SNP G A A 2011-2314:2012-359-T g.chr7:157851140G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PKHD1L1 93035 broad.mit.edu 37 8 110523065 110523065 + Missense_Mutation SNP C T T 2011-2314:2012-359-T g.chr8:110523065C>T uc003yne.2 + 71 11559 c.11455C>T c.(11455-11457)CAC>TAC p.H3819Y NM_177531 NP_803875 CSMD3 114788 broad.mit.edu 37 8 113326102 113326102 + Intron SNP G A A 2011-2314:2012-359-T g.chr8:113326102G>A uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron|CSMD3_uc003ynw.1_Intron NM_198123 NP_937756 TRAPPC9 83696 broad.mit.edu 37 8 141120653 141120653 + Intron SNP A G G 2011-2314:2012-359-T g.chr8:141120653A>G uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 SARDH 1757 broad.mit.edu 37 9 136534026 136534026 + Intron SNP C T T 2011-2314:2012-359-T g.chr9:136534026C>T uc004cep.3 - SARDH_uc004ceo.2_Intron|SARDH_uc011mdn.1_Intron|SARDH_uc011mdo.1_Intron|SARDH_uc004cen.2_Intron NM_001134707 NP_001128179 EHMT1 79813 broad.mit.edu 37 9 140610597 140610597 + Intron SNP G T T 2011-2314:2012-359-T g.chr9:140610597G>T uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 KIAA1751 85452 broad.mit.edu 37 1 1886519 1886519 + 3'UTR SNP C A A rs2748975 by1000genomes 2011-2315:2012-358-T g.chr1:1886519C>A uc001aim.1 - 18 NM_001080484 NP_001073953 KIF1B 23095 broad.mit.edu 37 1 10386340 10386340 + Silent SNP G T T 2011-2315:2012-358-T g.chr1:10386340G>T uc001aqx.3 + 27 3049 c.2847G>T c.(2845-2847)ACG>ACT p.T949T KIF1B_uc001aqw.3_Silent_p.T903T|KIF1B_uc001aqy.2_Silent_p.T923T|KIF1B_uc001aqz.2_Silent_p.T949T|KIF1B_uc001ara.2_Silent_p.T909T|KIF1B_uc001arb.2_Silent_p.T935T NM_015074 NP_055889 C1orf173 127254 broad.mit.edu 37 1 75038587 75038587 + Missense_Mutation SNP C G G 2011-2315:2012-358-T g.chr1:75038587C>G uc001dgg.2 - 14 3026 c.2807G>C c.(2806-2808)GGG>GCG p.G936A NM_001002912 NP_001002912 C1orf125 126859 broad.mit.edu 37 1 179351889 179351889 + Silent SNP C A A 2011-2315:2012-358-T g.chr1:179351889C>A uc001gmo.2 + 7 763 c.636C>A c.(634-636)TCC>TCA p.S212S C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_5'UTR|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Silent_p.S212S NM_144696 NP_653297 USH2A 7399 broad.mit.edu 37 1 215844615 215844615 + Missense_Mutation SNP G T T 2011-2315:2012-358-T g.chr1:215844615G>T uc001hku.1 - 64 14219 c.13832C>A c.(13831-13833)GCG>GAG p.A4611E NM_206933 NP_996816 USH2A 7399 broad.mit.edu 37 1 216258049 216258049 + Missense_Mutation SNP G T T 2011-2315:2012-358-T g.chr1:216258049G>T uc001hku.1 - 25 5545 c.5158C>A c.(5158-5160)CTA>ATA p.L1720I NM_206933 NP_996816 CCNY 219771 broad.mit.edu 37 10 35838419 35838419 + Intron SNP G A A 2011-2315:2012-358-T g.chr10:35838419G>A uc001iyw.3 + CCNY_uc001iyu.3_Intron|CCNY_uc001iyv.3_Intron|CCNY_uc001iyx.3_Intron|CCNY_uc009xmb.2_Intron|CCNY_uc010qet.1_Intron NM_145012 NP_659449 PTEN 5728 broad.mit.edu 37 10 89624042 89624042 + 5'UTR SNP T C C 2011-2315:2012-358-T g.chr10:89624042T>C uc001kfb.2 + 2 KILLIN_uc009xti.2_5'Flank NM_000314 NP_000305 PTEN 5728 broad.mit.edu 37 10 89624044 89624044 + 5'UTR SNP C A A 2011-2315:2012-358-T g.chr10:89624044C>A uc001kfb.2 + 2 KILLIN_uc009xti.2_5'Flank NM_000314 NP_000305 PIK3C2G 5288 broad.mit.edu 37 12 18477805 18477805 + Intron SNP G A A 2011-2315:2012-358-T g.chr12:18477805G>A uc001rdt.2 + PIK3C2G_uc010sia.1_Intron|PIK3C2G_uc010sib.1_Intron|PIK3C2G_uc010sic.1_Intron NM_004570 NP_004561 MLL2 8085 broad.mit.edu 37 12 49444844 49444844 + Nonsense_Mutation SNP G T T 2011-2315:2012-358-T g.chr12:49444844G>T uc001rta.3 - 10 2622 c.2622C>A c.(2620-2622)TGC>TGA p.C874* NM_003482 NP_003473 NAV3 89795 broad.mit.edu 37 12 78444519 78444519 + Intron SNP G T T 2011-2315:2012-358-T g.chr12:78444519G>T uc001syp.2 + NAV3_uc001syo.2_Intron|NAV3_uc010sub.1_Intron NM_014903 NP_055718 GALNT9 50614 broad.mit.edu 37 12 132882120 132882120 + Intron SNP C G G rs150356368 by1000genomes 2011-2315:2012-358-T g.chr12:132882120C>G uc001ukc.3 - GALNT9_uc009zys.2_Intron NM_001122636 NP_001116108 PCDH17 27253 broad.mit.edu 37 13 58206251 58206251 + 5'UTR SNP C G G 2011-2315:2012-358-T g.chr13:58206251C>G uc001vhq.1 + 1 PCDH17_uc010aec.1_5'UTR NM_001040429 NP_001035519 LRFN5 145581 broad.mit.edu 37 14 42356114 42356114 + Missense_Mutation SNP G A A 2011-2315:2012-358-T g.chr14:42356114G>A uc001wvm.2 + 3 1484 c.286G>A c.(286-288)GCT>ACT p.A96T LRFN5_uc010ana.2_Missense_Mutation_p.A96T NM_152447 NP_689660 SYNE2 23224 broad.mit.edu 37 14 64449333 64449333 + Intron SNP T C C 2011-2315:2012-358-T g.chr14:64449333T>C uc001xgm.2 + SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64657289 64657289 + Intron SNP A G G 2011-2315:2012-358-T g.chr14:64657289A>G uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron NM_015180 NP_055995 LMF1 64788 broad.mit.edu 37 16 998857 998857 + Intron SNP C T T rs34349854 2011-2315:2012-358-T g.chr16:998857C>T uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 RPL3L 6123 broad.mit.edu 37 16 1999729 1999729 + Intron SNP T G G 2011-2315:2012-358-T g.chr16:1999729T>G uc002cnh.2 - NM_005061 NP_005052 TUSC5 286753 broad.mit.edu 37 17 1189882 1189882 + Intron SNP C T T rs35316021 by1000genomes 2011-2315:2012-358-T g.chr17:1189882C>T uc002fsi.1 + NM_172367 NP_758955 TP53 7157 broad.mit.edu 37 17 7578526 7578526 + Missense_Mutation SNP C A A 2011-2315:2012-358-T g.chr17:7578526C>A uc002gim.2 - 5 598 c.404G>T c.(403-405)TGC>TTC p.C135F TP53_uc002gig.1_Missense_Mutation_p.C135F|TP53_uc002gih.2_Missense_Mutation_p.C135F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C3F|TP53_uc010cng.1_Missense_Mutation_p.C3F|TP53_uc002gii.1_Missense_Mutation_p.C3F|TP53_uc010cnh.1_Missense_Mutation_p.C135F|TP53_uc010cni.1_Missense_Mutation_p.C135F|TP53_uc002gij.2_Missense_Mutation_p.C135F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C42F|TP53_uc002gio.2_Missense_Mutation_p.C3F|TP53_uc010vug.1_Missense_Mutation_p.C96F NM_001126112 NP_001119584 TP53 7157 broad.mit.edu 37 17 7579312 7579312 + Silent SNP C A A rs55863639 2011-2315:2012-358-T g.chr17:7579312C>A uc002gim.2 - 4 569 c.375G>T c.(373-375)ACG>ACT p.T125T TP53_uc002gig.1_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T NM_001126112 NP_001119584 MYH1 4619 broad.mit.edu 37 17 10415361 10415361 + Intron SNP G T T 2011-2315:2012-358-T g.chr17:10415361G>T uc002gmo.2 - uc002gml.1_Intron NM_005963 NP_005954 RSAD1 55316 broad.mit.edu 37 17 48553543 48553543 + 5'Flank SNP C G G 2011-2315:2012-358-T g.chr17:48553543C>G uc002iqw.1 + RSAD1_uc010wmp.1_5'Flank|RSAD1_uc010wmq.1_5'Flank NM_018346 NP_060816 PRKCA 5578 broad.mit.edu 37 17 64794846 64794846 + Intron SNP G A A 2011-2315:2012-358-T g.chr17:64794846G>A uc002jfp.1 + NM_002737 NP_002728 NLRP4 147945 broad.mit.edu 37 19 56390078 56390078 + Intron SNP C T T 2011-2315:2012-358-T g.chr19:56390078C>T uc002qmd.3 + NLRP4_uc002qmf.2_Intron|NLRP4_uc010etf.2_Intron NM_134444 NP_604393 SMC6 79677 broad.mit.edu 37 2 17846816 17846816 + Missense_Mutation SNP T C C 2011-2315:2012-358-T g.chr2:17846816T>C uc002rco.2 - 28 3522 c.3226A>G c.(3226-3228)ACA>GCA p.T1076A SMC6_uc010exo.2_Missense_Mutation_p.T1076A|SMC6_uc002rcn.2_Missense_Mutation_p.T1076A NM_001142286 NP_001135758 APOB 338 broad.mit.edu 37 2 21235150 21235150 + Silent SNP G A A 2011-2315:2012-358-T g.chr2:21235150G>A uc002red.2 - 26 4718 c.4590C>T c.(4588-4590)ACC>ACT p.T1530T NM_000384 NP_000375 APOB 338 broad.mit.edu 37 2 21248011 21248011 + Intron SNP A G G 2011-2315:2012-358-T g.chr2:21248011A>G uc002red.2 - NM_000384 NP_000375 LTBP1 4052 broad.mit.edu 37 2 33588468 33588468 + Missense_Mutation SNP T C C 2011-2315:2012-358-T g.chr2:33588468T>C uc002ros.2 + 29 4285 c.4285T>C c.(4285-4287)TGC>CGC p.C1429R LTBP1_uc002rot.2_Missense_Mutation_p.C1103R|LTBP1_uc002rou.2_Missense_Mutation_p.C1102R|LTBP1_uc002rov.2_Missense_Mutation_p.C1049R|LTBP1_uc010ymz.1_Missense_Mutation_p.C1060R|LTBP1_uc010yna.1_Missense_Mutation_p.C1007R|LTBP1_uc010ynb.1_Missense_Mutation_p.C326R NM_206943 NP_996826 RMND5A 64795 broad.mit.edu 37 2 87634178 87634178 + Intron SNP C A A 2011-2315:2012-358-T g.chr2:87634178C>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87642551 87642551 + Intron SNP A G G 2011-2315:2012-358-T g.chr2:87642551A>G uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87644201 87644201 + Intron SNP C A A 2011-2315:2012-358-T g.chr2:87644201C>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87644457 87644457 + Intron SNP C T T 2011-2315:2012-358-T g.chr2:87644457C>T uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87645932 87645932 + Intron SNP C T T 2011-2315:2012-358-T g.chr2:87645932C>T uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87645997 87645997 + Intron SNP A G G 2011-2315:2012-358-T g.chr2:87645997A>G uc002srs.3 + LRP1B 53353 broad.mit.edu 37 2 141274739 141274739 + Intron SNP A T T 2011-2315:2012-358-T g.chr2:141274739A>T uc002tvj.1 - NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141458125 141458125 + Missense_Mutation SNP G A A 2011-2315:2012-358-T g.chr2:141458125G>A uc002tvj.1 - 41 7465 c.6493C>T c.(6493-6495)CGG>TGG p.R2165W NM_018557 NP_061027 TTN 7273 broad.mit.edu 37 2 179497826 179497826 + Intron SNP C T T 2011-2315:2012-358-T g.chr2:179497826C>T uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179583190 179583190 + Missense_Mutation SNP C G G 2011-2315:2012-358-T g.chr2:179583190C>G uc010zfg.1 - 82 21135 c.20911G>C c.(20911-20913)GAG>CAG p.E6971Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3632Q NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179615314 179615314 + Missense_Mutation SNP C T T 2011-2315:2012-358-T g.chr2:179615314C>T uc002unb.2 - 46 12037 c.11813G>A c.(11812-11814)CGC>CAC p.R3938H TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 TTN 7273 broad.mit.edu 37 2 179647570 179647570 + Silent SNP A T T 2011-2315:2012-358-T g.chr2:179647570A>T uc010zfg.1 - 18 3287 c.3063T>A c.(3061-3063)GCT>GCA p.A1021A TTN_uc010zfh.1_Silent_p.A975A|TTN_uc010zfi.1_Silent_p.A975A|TTN_uc010zfj.1_Silent_p.A975A|TTN_uc002unb.2_Silent_p.A1021A NM_133378 NP_596869 PAK7 57144 broad.mit.edu 37 20 9625073 9625073 + Intron SNP C G G 2011-2315:2012-358-T g.chr20:9625073C>G uc002wnl.2 - PAK7_uc002wnk.2_Intron|PAK7_uc002wnj.2_Intron|PAK7_uc010gby.1_Intron NM_020341 NP_065074 C20orf26 26074 broad.mit.edu 37 20 20337725 20337725 + Intron SNP A G G 2011-2315:2012-358-T g.chr20:20337725A>G uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 C20orf26 26074 broad.mit.edu 37 20 20338161 20338161 + Intron SNP G A A 2011-2315:2012-358-T g.chr20:20338161G>A uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 HUNK 30811 broad.mit.edu 37 21 33291364 33291364 + Intron SNP C A A 2011-2315:2012-358-T g.chr21:33291364C>A uc002yph.2 + NM_014586 NP_055401 DSCAM 1826 broad.mit.edu 37 21 42064765 42064765 + Nonsense_Mutation SNP C T T 2011-2315:2012-358-T g.chr21:42064765C>T uc002yyq.1 - 3 931 c.479G>A c.(478-480)TGG>TAG p.W160* DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45196808 45196808 + Intron SNP T C C 2011-2315:2012-358-T g.chr22:45196808T>C uc003bfd.2 + PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|ARHGAP8_uc003bfi.2_Intron|ARHGAP8_uc010gzv.2_Intron|ARHGAP8_uc003bfj.2_Intron|ARHGAP8_uc003bfk.2_Intron|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron NM_181335 NP_851852 CLSTN2 64084 broad.mit.edu 37 3 140185411 140185411 + Intron SNP A G G 2011-2315:2012-358-T g.chr3:140185411A>G uc003etn.2 + CLSTN2_uc003etm.2_Intron NM_022131 NP_071414 SI 6476 broad.mit.edu 37 3 164748599 164748599 + Missense_Mutation SNP C A A 2011-2315:2012-358-T g.chr3:164748599C>A uc003fei.2 - 25 2855 c.2793G>T c.(2791-2793)TGG>TGT p.W931C NM_001041 NP_001032 BCL6 604 broad.mit.edu 37 3 187447017 187447017 + Silent SNP T A A 2011-2315:2012-358-T g.chr3:187447017T>A uc003frp.3 - 5 1633 c.1176A>T c.(1174-1176)CCA>CCT p.P392P BCL6_uc011bsf.1_Silent_p.P392P|BCL6_uc010hza.2_Silent_p.P290P|BCL6_uc003frq.1_Silent_p.P392P NM_001130845 NP_001124317 SORCS2 57537 broad.mit.edu 37 4 7455225 7455225 + Intron SNP A G G 2011-2315:2012-358-T g.chr4:7455225A>G uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 SORCS2 57537 broad.mit.edu 37 4 7707915 7707915 + Intron SNP C T T 2011-2315:2012-358-T g.chr4:7707915C>T uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 KCTD8 386617 broad.mit.edu 37 4 44176814 44176814 + Missense_Mutation SNP C A A 2011-2315:2012-358-T g.chr4:44176814C>A uc003gwu.2 - 2 1699 c.1415G>T c.(1414-1416)GGG>GTG p.G472V NM_198353 NP_938167 DNAH5 1767 broad.mit.edu 37 5 13776478 13776478 + Intron SNP C T T 2011-2315:2012-358-T g.chr5:13776478C>T uc003jfd.2 - NM_001369 NP_001360 CDH12 1010 broad.mit.edu 37 5 21751968 21751968 + Missense_Mutation SNP C A A 2011-2315:2012-358-T g.chr5:21751968C>A uc010iuc.2 - 12 2721 c.2263G>T c.(2263-2265)GAC>TAC p.D755Y CDH12_uc011cno.1_Missense_Mutation_p.D715Y|CDH12_uc003jgk.2_Missense_Mutation_p.D755Y|uc003jgj.2_Intron NM_004061 NP_004052 CDH12 1010 broad.mit.edu 37 5 21752277 21752277 + Missense_Mutation SNP C T T 2011-2315:2012-358-T g.chr5:21752277C>T uc010iuc.2 - 12 2412 c.1954G>A c.(1954-1956)GAC>AAC p.D652N CDH12_uc011cno.1_Missense_Mutation_p.D612N|CDH12_uc003jgk.2_Missense_Mutation_p.D652N|uc003jgj.2_Intron NM_004061 NP_004052 NSD1 64324 broad.mit.edu 37 5 176637228 176637228 + Nonsense_Mutation SNP C T T 2011-2315:2012-358-T g.chr5:176637228C>T uc003mfr.3 + 5 1966 c.1828C>T c.(1828-1830)CAA>TAA p.Q610* NSD1_uc003mft.3_Nonsense_Mutation_p.Q341*|NSD1_uc003mfs.1_Nonsense_Mutation_p.Q507*|NSD1_uc011dfx.1_Nonsense_Mutation_p.Q258* NM_022455 NP_071900 DST 667 broad.mit.edu 37 6 56480764 56480764 + Intron SNP C A A 2011-2315:2012-358-T g.chr6:56480764C>A uc003pdf.2 - DST_uc003pcz.3_Intron|DST_uc011dxj.1_Intron|DST_uc011dxk.1_Intron|DST_uc003pcy.3_Intron|DST_uc003pdb.2_Intron|DST_uc003pdc.3_Missense_Mutation_p.A2501S NM_001144769 NP_001138241 SYNE1 23345 broad.mit.edu 37 6 152466798 152466798 + Intron SNP G C C 2011-2315:2012-358-T g.chr6:152466798G>C uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qop.3_Intron|SYNE1_uc011eez.1_Intron|SYNE1_uc003qoq.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 CARD11 84433 broad.mit.edu 37 7 2977554 2977554 + Missense_Mutation SNP C T T 2011-2315:2012-358-T g.chr7:2977554C>T uc003smv.2 - 8 1534 c.1130G>A c.(1129-1131)CGG>CAG p.R377Q NM_032415 NP_115791 RELN 5649 broad.mit.edu 37 7 103270488 103270488 + Silent SNP G A A 2011-2315:2012-358-T g.chr7:103270488G>A uc003vca.2 - 20 2761 c.2601C>T c.(2599-2601)AAC>AAT p.N867N RELN_uc010liz.2_Silent_p.N867N NM_005045 NP_005036 PIK3CG 5294 broad.mit.edu 37 7 106513520 106513520 + Intron SNP T C C 2011-2315:2012-358-T g.chr7:106513520T>C uc003vdv.3 + PIK3CG_uc003vdu.2_Intron|PIK3CG_uc003vdw.2_Intron NM_002649 NP_002640 PTPRN2 5799 broad.mit.edu 37 7 157851974 157851974 + Intron SNP C T T 2011-2315:2012-358-T g.chr7:157851974C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158295597 158295597 + Intron SNP C A A 2011-2315:2012-358-T g.chr7:158295597C>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 HOOK3 84376 broad.mit.edu 37 8 42865619 42865619 + Intron SNP G A A 2011-2315:2012-358-T g.chr8:42865619G>A uc003xpr.2 + NM_032410 NP_115786 UBXN2B 137886 broad.mit.edu 37 8 59338565 59338565 + Intron SNP C T T 2011-2315:2012-358-T g.chr8:59338565C>T uc003xtl.2 + NM_001077619 NP_001071087 SLCO5A1 81796 broad.mit.edu 37 8 70744116 70744116 + Missense_Mutation SNP C A A 2011-2315:2012-358-T g.chr8:70744116C>A uc003xyl.2 - 2 1500 c.793G>T c.(793-795)GCT>TCT p.A265S SLCO5A1_uc010lzb.2_Missense_Mutation_p.A265S|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.A265S|SLCO5A1_uc010lzc.2_Missense_Mutation_p.A265S NM_030958 NP_112220 ZFHX4 79776 broad.mit.edu 37 8 77764435 77764435 + Missense_Mutation SNP G T T 2011-2315:2012-358-T g.chr8:77764435G>T uc003yav.2 + 10 5530 c.5143G>T c.(5143-5145)GCC>TCC p.A1715S ZFHX4_uc003yau.1_Missense_Mutation_p.A1760S|ZFHX4_uc003yaw.1_Missense_Mutation_p.A1715S NM_024721 NP_078997 UBR5 51366 broad.mit.edu 37 8 103305937 103305937 + Silent SNP T A A 2011-2315:2012-358-T g.chr8:103305937T>A uc003ykr.1 - 34 4518 c.4485A>T c.(4483-4485)GCA>GCT p.A1495A UBR5_uc003yks.1_Silent_p.A1495A NM_015902 NP_056986 UBR5 51366 broad.mit.edu 37 8 103306406 103306406 + Intron SNP T A A 2011-2315:2012-358-T g.chr8:103306406T>A uc003ykr.1 - UBR5_uc003yks.1_Intron NM_015902 NP_056986 PKHD1L1 93035 broad.mit.edu 37 8 110478991 110478991 + Missense_Mutation SNP C A A 2011-2315:2012-358-T g.chr8:110478991C>A uc003yne.2 + 50 8702 c.8598C>A c.(8596-8598)GAC>GAA p.D2866E NM_177531 NP_803875 CSMD3 114788 broad.mit.edu 37 8 113668405 113668405 + Missense_Mutation SNP A T T 2011-2315:2012-358-T g.chr8:113668405A>T uc003ynu.2 - 18 3141 c.2982T>A c.(2980-2982)AAT>AAA p.N994K CSMD3_uc003yns.2_Missense_Mutation_p.N266K|CSMD3_uc003ynt.2_Missense_Mutation_p.N954K|CSMD3_uc011lhx.1_Missense_Mutation_p.N890K NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 114449034 114449034 + Missense_Mutation SNP C A A 2011-2315:2012-358-T g.chr8:114449034C>A uc003ynu.2 - 1 209 c.50G>T c.(49-51)TGG>TTG p.W17L CSMD3_uc011lhx.1_Missense_Mutation_p.W17L|CSMD3_uc010mcx.1_Missense_Mutation_p.W17L|CSMD3_uc003ynx.3_Missense_Mutation_p.W17L NM_198123 NP_937756 HUWE1 10075 broad.mit.edu 37 X 53658957 53658957 + Intron SNP T G G 2011-2315:2012-358-T g.chrX:53658957T>G uc004dsp.2 - NM_031407 NP_113584 MAGEC1 9947 broad.mit.edu 37 X 140991165 140991165 + 5'Flank SNP C A A 2011-2315:2012-358-T g.chrX:140991165C>A uc004fbt.2 + MAGEC1_uc010nsl.1_5'Flank NM_005462 NP_005453 MAGEC2 51438 broad.mit.edu 37 X 141293473 141293473 + 5'Flank SNP G A A 2011-2315:2012-358-T g.chrX:141293473G>A uc004fbu.1 - NM_016249 NP_057333 AGRN 375790 broad.mit.edu 37 1 966193 966193 + Intron SNP A G G 2011-2316:2012-312-T g.chr1:966193A>G uc001ack.1 + NM_198576 NP_940978 SPTA1 6708 broad.mit.edu 37 1 158612606 158612606 + Nonsense_Mutation SNP G A A 2011-2316:2012-312-T g.chr1:158612606G>A uc001fst.1 - 32 4802 c.4603C>T c.(4603-4605)CAG>TAG p.Q1535* NM_003126 NP_003117 USH2A 7399 broad.mit.edu 37 1 216495464 216495464 + Intron SNP G T T 2011-2316:2012-312-T g.chr1:216495464G>T uc001hku.1 - USH2A_uc001hkv.2_Intron NM_206933 NP_996816 RYR2 6262 broad.mit.edu 37 1 237219619 237219619 + Intron SNP G C C 2011-2316:2012-312-T g.chr1:237219619G>C uc001hyl.1 + NM_001035 NP_001026 RYR2 6262 broad.mit.edu 37 1 237219632 237219632 + Intron SNP A G G 2011-2316:2012-312-T g.chr1:237219632A>G uc001hyl.1 + NM_001035 NP_001026 OR8H2 390151 broad.mit.edu 37 11 55872201 55872201 + 5'Flank SNP C A A 2011-2316:2012-312-T g.chr11:55872201C>A uc010riy.1 + NM_001005200 NP_001005200 MRE11A 4361 broad.mit.edu 37 11 94225920 94225920 + Intron SNP C T T rs497763 by1000genomes 2011-2316:2012-312-T g.chr11:94225920C>T uc001peu.2 - MRE11A_uc001pev.2_Intron|MRE11A_uc009ywj.2_5'UTR|ANKRD49_uc001pew.2_5'Flank|ANKRD49_uc001pex.2_5'Flank NM_005591 NP_005582 ATM 472 broad.mit.edu 37 11 108172401 108172401 + Missense_Mutation SNP C A A 2011-2316:2012-312-T g.chr11:108172401C>A uc001pkb.1 + 35 5589 c.5204C>A c.(5203-5205)ACC>AAC p.T1735N ATM_uc009yxr.1_Missense_Mutation_p.T1735N|ATM_uc001pke.1_Missense_Mutation_p.T387N|ATM_uc001pkg.1_Missense_Mutation_p.T92N NM_000051 NP_000042 PZP 5858 broad.mit.edu 37 12 9305424 9305424 + Missense_Mutation SNP T G G 2011-2316:2012-312-T g.chr12:9305424T>G uc001qvl.2 - 31 4146 c.4117A>C c.(4117-4119)ATC>CTC p.I1373L PZP_uc009zgl.2_Missense_Mutation_p.I1159L NM_002864 NP_002855 PDE3A 5139 broad.mit.edu 37 12 20792792 20792792 + Missense_Mutation SNP C A A 2011-2316:2012-312-T g.chr12:20792792C>A uc001reh.1 + 10 2174 c.2152C>A c.(2152-2154)CTT>ATT p.L718I NM_000921 NP_000912 NCOR2 9612 broad.mit.edu 37 12 124952711 124952711 + Intron SNP C A A 2011-2316:2012-312-T g.chr12:124952711C>A uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 NCOR2 9612 broad.mit.edu 37 12 124952725 124952725 + Intron SNP C T T 2011-2316:2012-312-T g.chr12:124952725C>T uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 GPR133 283383 broad.mit.edu 37 12 131613783 131613783 + Intron SNP G C C 2011-2316:2012-312-T g.chr12:131613783G>C uc001uit.3 + GPR133_uc010tbm.1_Intron|GPR133_uc009zyo.2_Intron|GPR133_uc009zyp.2_Intron NM_198827 NP_942122 FANCM 57697 broad.mit.edu 37 14 45605287 45605287 + Missense_Mutation SNP G T T rs146609069 byFrequency 2011-2316:2012-312-T g.chr14:45605287G>T uc001wwd.3 + 1 152 c.53G>T c.(52-54)CGA>CTA p.R18L FANCM_uc001wwc.2_Missense_Mutation_p.R18L|FANCM_uc010anf.2_Missense_Mutation_p.R18L|FKBP3_uc010tqf.1_5'Flank NM_020937 NP_065988 NRXN3 9369 broad.mit.edu 37 14 79746418 79746418 + Intron SNP G A A 2011-2316:2012-312-T g.chr14:79746418G>A uc001xun.2 + NRXN3_uc001xum.1_Intron|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_5'UTR|NRXN3_uc010asw.2_5'UTR|NRXN3_uc001xur.3_5'UTR NM_004796 NP_004787 AKT1 207 broad.mit.edu 37 14 105239254 105239254 + Missense_Mutation SNP G C C 2011-2316:2012-312-T g.chr14:105239254G>C uc001ypk.2 - 11 1687 c.1133C>G c.(1132-1134)TCC>TGC p.S378C INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.S378C|AKT1_uc010axa.2_Missense_Mutation_p.S378C|AKT1_uc001ypm.2_Missense_Mutation_p.S378C|AKT1_uc001ypn.2_Missense_Mutation_p.S378C|AKT1_uc001ypj.2_5'Flank|AKT1_uc010tyk.1_Missense_Mutation_p.S316C NM_005163 NP_005154 LMF1 64788 broad.mit.edu 37 16 907583 907583 + Intron SNP C T T rs144035372 2011-2316:2012-312-T g.chr16:907583C>T uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 907606 907606 + Intron SNP C T T 2011-2316:2012-312-T g.chr16:907606C>T uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 1002863 1002863 + Intron SNP A C C rs75397517 by1000genomes 2011-2316:2012-312-T g.chr16:1002863A>C uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 SPIRE2 84501 broad.mit.edu 37 16 89919182 89919182 + Intron SNP G A A 2011-2316:2012-312-T g.chr16:89919182G>A uc002foz.1 + SPIRE2_uc010civ.1_Intron|SPIRE2_uc010ciw.1_Intron|SPIRE2_uc002fpa.1_Intron|SPIRE2_uc010cix.1_Intron NM_032451 NP_115827 RPH3AL 9501 broad.mit.edu 37 17 95170 95170 + Intron SNP G A A 2011-2316:2012-312-T g.chr17:95170G>A uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 ABR 29 broad.mit.edu 37 17 1021130 1021130 + Intron SNP T C C 2011-2316:2012-312-T g.chr17:1021130T>C uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 ABR 29 broad.mit.edu 37 17 1022610 1022610 + Intron SNP C T T 2011-2316:2012-312-T g.chr17:1022610C>T uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 P2RX5 5026 broad.mit.edu 37 17 3583760 3583760 + Intron SNP A G G rs112686978 2011-2316:2012-312-T g.chr17:3583760A>G uc002fwi.2 - P2RX5_uc002fwd.2_Intron|P2RX5_uc002fwh.1_Intron|P2RX5_uc010vrx.1_Intron|P2RX5_uc002fwj.2_Intron|P2RX5_uc002fwk.2_Intron|P2RX5_uc002fwl.2_Intron NM_002561 NP_002552 MYH1 4619 broad.mit.edu 37 17 10402357 10402357 + Silent SNP C T T 2011-2316:2012-312-T g.chr17:10402357C>T uc002gmo.2 - 29 4012 c.3918G>A c.(3916-3918)TCG>TCA p.S1306S uc002gml.1_Intron NM_005963 NP_005954 STAT3 6774 broad.mit.edu 37 17 40486093 40486093 + Intron SNP A T T 2011-2316:2012-312-T g.chr17:40486093A>T uc002hzl.1 - STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron NM_139276 NP_644805 PRKCA 5578 broad.mit.edu 37 17 64795160 64795160 + Intron SNP G A A 2011-2316:2012-312-T g.chr17:64795160G>A uc002jfp.1 + NM_002737 NP_002728 PRKCA 5578 broad.mit.edu 37 17 64795513 64795513 + Intron SNP T A A 2011-2316:2012-312-T g.chr17:64795513T>A uc002jfp.1 + NM_002737 NP_002728 ZNF443 10224 broad.mit.edu 37 19 12542333 12542333 + Missense_Mutation SNP G A A rs143162114 byFrequency;by1000genomes 2011-2316:2012-312-T g.chr19:12542333G>A uc002mtu.2 - 4 851 c.653C>T c.(652-654)ACG>ATG p.T218M NM_005815 NP_005806 CACNG7 59284 broad.mit.edu 37 19 54427233 54427233 + Intron SNP G T T 2011-2316:2012-312-T g.chr19:54427233G>T uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 CACNG7 59284 broad.mit.edu 37 19 54427242 54427242 + Intron SNP C T T rs74973062 2011-2316:2012-312-T g.chr19:54427242C>T uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 MYT1L 23040 broad.mit.edu 37 2 1935170 1935170 + Intron SNP C T T 2011-2316:2012-312-T g.chr2:1935170C>T uc002qxe.2 - MYT1L_uc002qxd.2_Intron NM_015025 NP_055840 HDAC4 9759 broad.mit.edu 37 2 240204069 240204069 + Intron SNP C T T 2011-2316:2012-312-T g.chr2:240204069C>T uc002vyk.3 - HDAC4_uc010fyz.1_Intron|HDAC4_uc010zoa.1_Intron|HDAC4_uc010fza.2_Intron NM_006037 NP_006028 RRBP1 6238 broad.mit.edu 37 20 17639864 17639864 + Intron SNP T C C 2011-2316:2012-312-T g.chr20:17639864T>C uc002wpv.1 - RRBP1_uc002wpu.2_5'Flank|RRBP1_uc002wpw.1_Intron|RRBP1_uc010gcl.1_Intron NM_001042576 NP_001036041 CDH4 1002 broad.mit.edu 37 20 59839912 59839912 + Intron SNP C T T 2011-2316:2012-312-T g.chr20:59839912C>T uc002ybn.1 + NM_001794 NP_001785 CDH4 1002 broad.mit.edu 37 20 59839921 59839921 + Intron SNP T C C 2011-2316:2012-312-T g.chr20:59839921T>C uc002ybn.1 + NM_001794 NP_001785 MPPED1 758 broad.mit.edu 37 22 43892319 43892319 + Intron SNP G A A 2011-2316:2012-312-T g.chr22:43892319G>A uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 SULT4A1 25830 broad.mit.edu 37 22 44231012 44231012 + Intron SNP A T T 2011-2316:2012-312-T g.chr22:44231012A>T uc003bee.1 - SULT4A1_uc003bed.1_Intron|SULT4A1_uc003bef.1_Intron|SULT4A1_uc011aqb.1_Intron NM_014351 NP_055166 SAPS2 9701 broad.mit.edu 37 22 50844264 50844264 + Intron SNP T C C 2011-2316:2012-312-T g.chr22:50844264T>C uc003blb.1 + SAPS2_uc003bky.1_Intron|SAPS2_uc003bkz.1_Intron|SAPS2_uc003blc.2_Intron|SAPS2_uc003bla.1_Intron NM_014678 NP_055493 CELSR3 1951 broad.mit.edu 37 3 48694620 48694620 + Missense_Mutation SNP C T T 2011-2316:2012-312-T g.chr3:48694620C>T uc003cul.2 - 2 4191 c.3910G>A c.(3910-3912)GCT>ACT p.A1304T CELSR3_uc003cuf.1_Missense_Mutation_p.A1374T NM_001407 NP_001398 MUC4 4585 broad.mit.edu 37 3 195498208 195498209 + Intron DNP TT CC CC rs112809092 2011-2316:2012-312-T g.chr3:195498208_195498209TT>CC uc011bto.1 - MUC4_uc003fuz.2_Intron|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 CEP72 55722 broad.mit.edu 37 5 648365 648365 + Intron SNP G A A 2011-2316:2012-312-T g.chr5:648365G>A uc003jbf.2 + NM_018140 NP_060610 SYNE1 23345 broad.mit.edu 37 6 152462431 152462431 + Missense_Mutation SNP C A A 2011-2316:2012-312-T g.chr6:152462431C>A uc010kiw.2 - 139 25755 c.25153G>T c.(25153-25155)GAC>TAC p.D8385Y SYNE1_uc010kiv.2_Missense_Mutation_p.D2909Y|SYNE1_uc003qos.3_Missense_Mutation_p.D2909Y|SYNE1_uc003qot.3_Missense_Mutation_p.D8337Y|SYNE1_uc003qou.3_Missense_Mutation_p.D8385Y|SYNE1_uc003qop.3_Missense_Mutation_p.D570Y|SYNE1_uc011eez.1_Missense_Mutation_p.D587Y|SYNE1_uc003qoq.3_Missense_Mutation_p.D587Y|SYNE1_uc003qor.3_Missense_Mutation_p.D1308Y NM_182961 NP_892006 ADAP1 11033 broad.mit.edu 37 7 982255 982255 + Intron SNP A T T 2011-2316:2012-312-T g.chr7:982255A>T uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PTPRN2 5799 broad.mit.edu 37 7 157660017 157660017 + Intron SNP T C C 2011-2316:2012-312-T g.chr7:157660017T>C uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158112286 158112286 + Intron SNP C T T rs113458596 by1000genomes 2011-2316:2012-312-T g.chr7:158112286C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158112323 158112324 + Intron DNP AC GT GT 2011-2316:2012-312-T g.chr7:158112323_158112324AC>GT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ZFHX4 79776 broad.mit.edu 37 8 77618329 77618329 + Missense_Mutation SNP A C C 2011-2316:2012-312-T g.chr8:77618329A>C uc003yav.2 + 2 2393 c.2006A>C c.(2005-2007)GAG>GCG p.E669A ZFHX4_uc003yat.1_Missense_Mutation_p.E669A|ZFHX4_uc003yau.1_Missense_Mutation_p.E669A|ZFHX4_uc003yaw.1_Missense_Mutation_p.E669A NM_024721 NP_078997 PARP10 84875 broad.mit.edu 37 8 145055677 145055677 + Intron SNP G A A rs143266606 by1000genomes 2011-2316:2012-312-T g.chr8:145055677G>A uc003zal.3 - PARP10_uc003zak.3_Intron|PARP10_uc011lku.1_Intron|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Intron NM_032789 NP_116178 PARP10 84875 broad.mit.edu 37 8 145055693 145055693 + Intron SNP C T T 2011-2316:2012-312-T g.chr8:145055693C>T uc003zal.3 - PARP10_uc003zak.3_Intron|PARP10_uc011lku.1_Intron|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Intron NM_032789 NP_116178 LINGO2 158038 broad.mit.edu 37 9 28189443 28189443 + Intron SNP G A A 2011-2316:2012-312-T g.chr9:28189443G>A uc003zqu.1 - LINGO2_uc010mjf.1_Intron|LINGO2_uc003zqv.1_Intron NM_152570 NP_689783 LINGO2 158038 broad.mit.edu 37 9 28189463 28189463 + Intron SNP G A A 2011-2316:2012-312-T g.chr9:28189463G>A uc003zqu.1 - LINGO2_uc010mjf.1_Intron|LINGO2_uc003zqv.1_Intron NM_152570 NP_689783 EXD3 54932 broad.mit.edu 37 9 140276573 140276573 + Intron SNP G T T 2011-2316:2012-312-T g.chr9:140276573G>T uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncg.1_Intron|EXD3_uc004cmr.2_Intron|EXD3_uc004cms.2_Intron NM_017820 NP_060290 EHMT1 79813 broad.mit.edu 37 9 140615768 140615768 + Intron SNP A G G 2011-2316:2012-312-T g.chr9:140615768A>G uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 PPP2R3B 28227 broad.mit.edu 37 X 303305 303305 + Intron SNP T G G 2011-2316:2012-312-T g.chrX:303305T>G uc004cpg.2 - PPP2R3B_uc004cpf.2_5'Flank NM_013239 NP_037371 ADARB2 105 broad.mit.edu 37 10 1282121 1282121 + Intron SNP T C C 2011-2317:2012-357-T g.chr10:1282121T>C uc009xhq.2 - NM_018702 NP_061172 ADARB2 105 broad.mit.edu 37 10 1282209 1282209 + Intron SNP T C C 2011-2317:2012-357-T g.chr10:1282209T>C uc009xhq.2 - NM_018702 NP_061172 CDH23 64072 broad.mit.edu 37 10 73448668 73448668 + Intron SNP C T T 2011-2317:2012-357-T g.chr10:73448668C>T uc001jrx.3 + CDH23_uc001jry.2_Intron|CDH23_uc001jrz.2_Intron NM_022124 NP_071407 LHPP 64077 broad.mit.edu 37 10 126299189 126299189 + Intron SNP A C C 2011-2317:2012-357-T g.chr10:126299189A>C uc001lhs.1 + LHPP_uc001lht.1_Intron|LHPP_uc009yai.1_Intron|LHPP_uc009yaj.1_Intron NM_022126 NP_071409 OR51S1 119692 broad.mit.edu 37 11 4870604 4870604 + 5'Flank SNP C T T rs34301246 by1000genomes 2011-2317:2012-357-T g.chr11:4870604C>T uc010qyo.1 - NM_001004758 NP_001004758 TPCN2 219931 broad.mit.edu 37 11 68844204 68844204 + Intron SNP C T T 2011-2317:2012-357-T g.chr11:68844204C>T uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_Intron NM_139075 NP_620714 SHANK2 22941 broad.mit.edu 37 11 70633508 70633508 + Intron SNP A G G 2011-2317:2012-357-T g.chr11:70633508A>G uc001oqc.2 - NM_012309 NP_036441 PHLDB1 23187 broad.mit.edu 37 11 118480115 118480115 + Intron SNP G C C rs12803321 by1000genomes 2011-2317:2012-357-T g.chr11:118480115G>C uc001ptr.1 + PHLDB1_uc010ryh.1_Intron|PHLDB1_uc001pts.2_Intron|PHLDB1_uc001ptt.2_Intron|PHLDB1_uc001ptu.1_Intron NM_015157 NP_055972 TSPAN9 10867 broad.mit.edu 37 12 3377872 3377872 + Intron SNP G C C rs78198836 2011-2317:2012-357-T g.chr12:3377872G>C uc001qlp.2 + NM_006675 NP_006666 TSPAN9 10867 broad.mit.edu 37 12 3377875 3377875 + Intron SNP C T T rs76013798 by1000genomes 2011-2317:2012-357-T g.chr12:3377875C>T uc001qlp.2 + NM_006675 NP_006666 SPIC 121599 broad.mit.edu 37 12 101870427 101870427 + Intron SNP C A A rs7978858 by1000genomes 2011-2317:2012-357-T g.chr12:101870427C>A uc001tid.2 + SPIC_uc009zua.2_5'Flank|SPIC_uc010svp.1_5'Flank NM_152323 NP_689536 GRK1 6011 broad.mit.edu 37 13 114431021 114431021 + Intron SNP C T T 2011-2317:2012-357-T g.chr13:114431021C>T uc010tkf.1 + NM_002929 NP_002920 FANCM 57697 broad.mit.edu 37 14 45605129 45605129 + 5'Flank SNP C A A 2011-2317:2012-357-T g.chr14:45605129C>A uc001wwd.3 + FANCM_uc001wwc.2_5'Flank|FANCM_uc010anf.2_5'Flank|FKBP3_uc010tqf.1_5'Flank NM_020937 NP_065988 SYNE2 23224 broad.mit.edu 37 14 64468918 64468918 + Intron SNP G A A rs12147217 by1000genomes 2011-2317:2012-357-T g.chr14:64468918G>A uc001xgm.2 + SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C T T rs11540652 2011-2317:2012-357-T g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 PRKCA 5578 broad.mit.edu 37 17 64737717 64737717 + Intron SNP T A A rs3803821 by1000genomes 2011-2317:2012-357-T g.chr17:64737717T>A uc002jfp.1 + PRKCA_uc002jfo.1_Intron NM_002737 NP_002728 PRKCA 5578 broad.mit.edu 37 17 64800187 64800187 + 3'UTR SNP C T T rs62621676 byFrequency;by1000genomes 2011-2317:2012-357-T g.chr17:64800187C>T uc002jfp.1 + 17 NM_002737 NP_002728 DOK6 220164 broad.mit.edu 37 18 67266636 67266636 + Missense_Mutation SNP A T T 2011-2317:2012-357-T g.chr18:67266636A>T uc002lkl.2 + 3 381 c.191A>T c.(190-192)AAT>ATT p.N64I NM_152721 NP_689934 ZNF799 90576 broad.mit.edu 37 19 12491639 12491639 + Missense_Mutation SNP A G G rs59301182 by1000genomes 2011-2317:2012-357-T g.chr19:12491639A>G uc002mts.3 - 4 903 c.437T>C c.(436-438)CTG>CCG p.L146P ZNF799 90576 broad.mit.edu 37 19 12491654 12491654 + Missense_Mutation SNP C T T rs57371898 by1000genomes 2011-2317:2012-357-T g.chr19:12491654C>T uc002mts.3 - 4 888 c.422G>A c.(421-423)CGT>CAT p.R141H TTN 7273 broad.mit.edu 37 2 179582162 179582162 + Intron SNP C T T rs62178977 by1000genomes 2011-2317:2012-357-T g.chr2:179582162C>T uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133378 NP_596869 TRPM2 7226 broad.mit.edu 37 21 45848592 45848592 + Intron SNP G C C 2011-2317:2012-357-T g.chr21:45848592G>C uc002zet.1 + TRPM2_uc002zeu.1_Intron|TRPM2_uc002zew.1_Intron|TRPM2_uc010gpt.1_Intron|TRPM2_uc002zex.1_Intron|TRPM2_uc002zey.1_Intron|TRPM2_uc011aff.1_Intron NM_003307 NP_003298 MICAL3 57553 broad.mit.edu 37 22 18359824 18359824 + Intron SNP G A A 2011-2317:2012-357-T g.chr22:18359824G>A uc002zng.3 - MICAL3_uc011agl.1_Intron|MICAL3_uc002znh.2_Intron|MICAL3_uc002znj.1_Intron|MICAL3_uc002znk.1_Intron|MICAL3_uc002znl.1_Intron|MICAL3_uc002znm.2_Intron|MICAL3_uc010grf.2_Intron NM_015241 NP_056056 MUC4 4585 broad.mit.edu 37 3 195502369 195502369 + Intron SNP A G G rs141572613 by1000genomes 2011-2317:2012-357-T g.chr3:195502369A>G uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 FAM53A 152877 broad.mit.edu 37 4 1672738 1672738 + Intron SNP A C C 2011-2317:2012-357-T g.chr4:1672738A>C uc011bve.1 - FAM53A_uc010ibw.2_Intron NM_001013622 NP_001013644 SORCS2 57537 broad.mit.edu 37 4 7455225 7455225 + Intron SNP A G G 2011-2317:2012-357-T g.chr4:7455225A>G uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 SLC10A7 84068 broad.mit.edu 37 4 147207476 147207476 + Intron SNP T C C rs111738244 2011-2317:2012-357-T g.chr4:147207476T>C uc010ioz.2 - SLC10A7_uc003ikr.2_Intron|SLC10A7_uc010ipa.2_Intron|SLC10A7_uc003iks.2_Intron NM_001029998 NP_001025169 FSTL5 56884 broad.mit.edu 37 4 163085523 163085523 + 5'Flank SNP G C C rs12642329 by1000genomes 2011-2317:2012-357-T g.chr4:163085523G>C uc003iqh.2 - FSTL5_uc003iqi.2_5'Flank|FSTL5_uc010iqv.2_5'Flank NM_020116 NP_064501 RANBP17 64901 broad.mit.edu 37 5 170288551 170288551 + 5'Flank SNP C G G rs3806931 by1000genomes 2011-2317:2012-357-T g.chr5:170288551C>G uc003mba.2 + RANBP17_uc003max.1_5'Flank|RANBP17_uc003may.1_5'Flank|RANBP17_uc003maz.1_5'Flank|RANBP17_uc010jjr.1_5'Flank|RANBP17_uc003maw.2_5'Flank|RANBP17_uc011dew.1_5'Flank NM_022897 NP_075048 UNC5A 90249 broad.mit.edu 37 5 176299785 176299786 + Intron DNP CT TC TC 2011-2317:2012-357-T g.chr5:176299785_176299786CT>TC uc003mey.2 + UNC5A_uc010jkg.1_Intron NM_133369 NP_588610 UNC5A 90249 broad.mit.edu 37 5 176299888 176299889 + Intron DNP CT TC TC 2011-2317:2012-357-T g.chr5:176299888_176299889CT>TC uc003mey.2 + UNC5A_uc010jkg.1_Intron NM_133369 NP_588610 RUFY1 80230 broad.mit.edu 37 5 178986261 178986261 + Intron SNP C G G rs6601050 by1000genomes 2011-2317:2012-357-T g.chr5:178986261C>G uc003mka.1 + RUFY1_uc003mkb.1_5'Flank|RUFY1_uc003mkc.1_5'Flank NM_025158 NP_079434 DST 667 broad.mit.edu 37 6 56476262 56476262 + Intron SNP T C C rs7747060 by1000genomes 2011-2317:2012-357-T g.chr6:56476262T>C uc003pdf.2 - DST_uc003pcz.3_Intron|DST_uc011dxj.1_Intron|DST_uc011dxk.1_Intron|DST_uc003pcy.3_Intron|DST_uc003pdb.2_Intron NM_001144769 NP_001138241 VPS41 27072 broad.mit.edu 37 7 38948813 38948813 + 5'Flank SNP G T T 2011-2317:2012-357-T g.chr7:38948813G>T uc003tgy.2 - VPS41_uc003tgz.2_5'Flank|VPS41_uc010kxn.2_5'Flank NM_014396 NP_055211 EGFR 1956 broad.mit.edu 37 7 55259450 55259450 + Silent SNP C T T rs17290559 byFrequency;by1000genomes 2011-2317:2012-357-T g.chr7:55259450C>T uc003tqk.2 + 21 2754 c.2508C>T c.(2506-2508)CGC>CGT p.R836R EGFR_uc010kzg.1_Silent_p.R791R|EGFR_uc011kco.1_Silent_p.R783R|uc003tqo.2_5'Flank NM_005228 NP_005219 PCLO 27445 broad.mit.edu 37 7 82545989 82545989 + Silent SNP A G G 2011-2317:2012-357-T g.chr7:82545989A>G uc003uhx.2 - 7 11602 c.11313T>C c.(11311-11313)GAT>GAC p.D3771D PCLO_uc003uhv.2_Silent_p.D3771D|PCLO_uc010lec.2_Silent_p.D736D NM_033026 NP_149015 RELN 5649 broad.mit.edu 37 7 103237030 103237030 + Missense_Mutation SNP C T T 2011-2317:2012-357-T g.chr7:103237030C>T uc003vca.2 - 25 3572 c.3412G>A c.(3412-3414)GGA>AGA p.G1138R RELN_uc010liz.2_Missense_Mutation_p.G1138R NM_005045 NP_005036 CSMD3 114788 broad.mit.edu 37 8 114185845 114185845 + Intron SNP C G G 2011-2317:2012-357-T g.chr8:114185845C>G uc003ynu.2 - CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron|CSMD3_uc010mcx.1_Intron NM_198123 NP_937756 ZNF16 7564 broad.mit.edu 37 8 146172583 146172583 + Intron SNP G A A rs71522405 by1000genomes 2011-2317:2012-357-T g.chr8:146172583G>A uc003zet.2 - ZNF16_uc003zeu.2_Intron NM_001029976 NP_001025147 TTF1 7270 broad.mit.edu 37 9 135254044 135254044 + Intron SNP A C C 2011-2317:2012-357-T g.chr9:135254044A>C uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 PRDM16 63976 broad.mit.edu 37 1 3082438 3082438 + Intron SNP A T T rs78749930 by1000genomes 2011-2318:2012-356-T g.chr1:3082438A>T uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 PRDM16 63976 broad.mit.edu 37 1 3082448 3082448 + Intron SNP C G G rs76747589 by1000genomes 2011-2318:2012-356-T g.chr1:3082448C>G uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 NBPF1 55672 broad.mit.edu 37 1 16914332 16914332 + Intron SNP A C C 2011-2318:2012-356-T g.chr1:16914332A>C uc009vos.1 - NBPF1_uc009vot.1_5'Flank|NBPF1_uc001ayz.1_5'Flank|NBPF1_uc010oce.1_Intron NM_017940 NP_060410 C1orf173 127254 broad.mit.edu 37 1 75037596 75037596 + Silent SNP G A A 2011-2318:2012-356-T g.chr1:75037596G>A uc001dgg.2 - 14 4017 c.3798C>T c.(3796-3798)GTC>GTT p.V1266V NM_001002912 NP_001002912 C1orf173 127254 broad.mit.edu 37 1 75038393 75038393 + Missense_Mutation SNP C G G 2011-2318:2012-356-T g.chr1:75038393C>G uc001dgg.2 - 14 3220 c.3001G>C c.(3001-3003)GCA>CCA p.A1001P NM_001002912 NP_001002912 C1orf173 127254 broad.mit.edu 37 1 75107117 75107117 + Missense_Mutation SNP T A A 2011-2318:2012-356-T g.chr1:75107117T>A uc001dgg.2 - 5 561 c.342A>T c.(340-342)GAA>GAT p.E114D NM_001002912 NP_001002912 ABCA4 24 broad.mit.edu 37 1 94526098 94526098 + Missense_Mutation SNP T C C 2011-2318:2012-356-T g.chr1:94526098T>C uc001dqh.2 - 14 2259 c.2155A>G c.(2155-2157)ATC>GTC p.I719V ABCA4_uc010otn.1_Missense_Mutation_p.I719V NM_000350 NP_000341 SPTA1 6708 broad.mit.edu 37 1 158609846 158609846 + Intron SNP C A A 2011-2318:2012-356-T g.chr1:158609846C>A uc001fst.1 - NM_003126 NP_003117 SPTA1 6708 broad.mit.edu 37 1 158641206 158641206 + Missense_Mutation SNP C T T 2011-2318:2012-356-T g.chr1:158641206C>T uc001fst.1 - 12 1725 c.1526G>A c.(1525-1527)GGC>GAC p.G509D NM_003126 NP_003117 SPTA1 6708 broad.mit.edu 37 1 158656739 158656739 + 5'Flank SNP A G G 2011-2318:2012-356-T g.chr1:158656739A>G uc001fst.1 - NM_003126 NP_003117 PIK3C2B 5287 broad.mit.edu 37 1 204418378 204418378 + Missense_Mutation SNP G C C 2011-2318:2012-356-T g.chr1:204418378G>C uc001haw.2 - 15 2760 c.2281C>G c.(2281-2283)CAG>GAG p.Q761E PIK3C2B_uc010pqv.1_Missense_Mutation_p.Q761E NM_002646 NP_002637 USH2A 7399 broad.mit.edu 37 1 216073272 216073272 + Intron SNP C T T 2011-2318:2012-356-T g.chr1:216073272C>T uc001hku.1 - NM_206933 NP_996816 GPR123 84435 broad.mit.edu 37 10 134893278 134893278 + Intron SNP G A A 2011-2318:2012-356-T g.chr10:134893278G>A uc001llw.2 + TMEM132D 121256 broad.mit.edu 37 12 129563151 129563151 + Missense_Mutation SNP C A A 2011-2318:2012-356-T g.chr12:129563151C>A uc009zyl.1 - 8 2371 c.2043G>T c.(2041-2043)CAG>CAT p.Q681H TMEM132D_uc001uia.2_Missense_Mutation_p.Q219H NM_133448 NP_597705 CCNA1 8900 broad.mit.edu 37 13 37011805 37011805 + Missense_Mutation SNP G T T 2011-2318:2012-356-T g.chr13:37011805G>T uc001uvr.3 + 3 687 c.337G>T c.(337-339)GCC>TCC p.A113S CCNA1_uc010teo.1_Missense_Mutation_p.A69S|CCNA1_uc010abq.2_Missense_Mutation_p.A69S|CCNA1_uc010abp.2_Missense_Mutation_p.A69S|CCNA1_uc001uvs.3_Missense_Mutation_p.A112S|CCNA1_uc010abr.2_RNA NM_003914 NP_003905 GPC5 2262 broad.mit.edu 37 13 92051567 92051567 + Intron SNP C T T 2011-2318:2012-356-T g.chr13:92051567C>T uc010tif.1 + NM_004466 NP_004457 TPP2 7174 broad.mit.edu 37 13 103286304 103286304 + Missense_Mutation SNP G A A 2011-2318:2012-356-T g.chr13:103286304G>A uc001vpi.3 + 11 1352 c.1249G>A c.(1249-1251)GAC>AAC p.D417N NM_003291 NP_003282 F7 2155 broad.mit.edu 37 13 113761619 113761619 + Intron SNP G A A 2011-2318:2012-356-T g.chr13:113761619G>A uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 GRTP1 79774 broad.mit.edu 37 13 113984825 113984825 + Intron SNP G A A rs71446691 by1000genomes 2011-2318:2012-356-T g.chr13:113984825G>A uc001vtn.2 - GRTP1_uc010tkb.1_Intron|GRTP1_uc010tkc.1_Intron NM_024719 NP_078995 SYNE2 23224 broad.mit.edu 37 14 64600850 64600850 + Missense_Mutation SNP A G G 2011-2318:2012-356-T g.chr14:64600850A>G uc001xgm.2 + 78 14808 c.14578A>G c.(14578-14580)ACA>GCA p.T4860A SYNE2_uc001xgl.2_Missense_Mutation_p.T4860A|SYNE2_uc010apy.2_Missense_Mutation_p.T1245A|SYNE2_uc010apz.1_Missense_Mutation_p.T752A NM_015180 NP_055995 NRXN3 9369 broad.mit.edu 37 14 79181420 79181420 + Missense_Mutation SNP G C C 2011-2318:2012-356-T g.chr14:79181420G>C uc001xun.2 + 5 1354 c.863G>C c.(862-864)GGC>GCC p.G288A NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.G422A NM_004796 NP_004787 FOXN3 1112 broad.mit.edu 37 14 89827138 89827138 + Intron SNP C T T 2011-2318:2012-356-T g.chr14:89827138C>T uc001xxo.3 - FOXN3_uc001xxn.3_Intron|FOXN3_uc010atk.2_Intron NM_001085471 NP_001078940 RAB11FIP3 9727 broad.mit.edu 37 16 554251 554251 + Intron SNP C T T 2011-2318:2012-356-T g.chr16:554251C>T uc002chf.2 + RAB11FIP3_uc010uuf.1_Intron|RAB11FIP3_uc010uug.1_Intron NM_014700 NP_055515 LMF1 64788 broad.mit.edu 37 16 999993 999993 + Intron SNP A C C 2011-2318:2012-356-T g.chr16:999993A>C uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 1000013 1000013 + Intron SNP C A A 2011-2318:2012-356-T g.chr16:1000013C>A uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 RPL3L 6123 broad.mit.edu 37 16 1999930 1999930 + Intron SNP A G G 2011-2318:2012-356-T g.chr16:1999930A>G uc002cnh.2 - NM_005061 NP_005052 DNAH3 55567 broad.mit.edu 37 16 21069512 21069512 + Silent SNP A T T 2011-2318:2012-356-T g.chr16:21069512A>T uc010vbe.1 - 27 3819 c.3819T>A c.(3817-3819)CCT>CCA p.P1273P NM_017539 NP_060009 HYDIN 54768 broad.mit.edu 37 16 71127835 71127835 + Missense_Mutation SNP C A A 2011-2318:2012-356-T g.chr16:71127835C>A uc002ezr.2 - 11 1459 c.1331G>T c.(1330-1332)CGA>CTA p.R444L HYDIN_uc010cfz.1_Missense_Mutation_p.R189L|HYDIN_uc002ezv.2_Missense_Mutation_p.R444L|HYDIN_uc010vmc.1_Missense_Mutation_p.R461L|HYDIN_uc010vmd.1_Missense_Mutation_p.R471L|HYDIN_uc002ezw.3_Missense_Mutation_p.R461L NM_032821 NP_116210 CBFA2T3 863 broad.mit.edu 37 16 89022128 89022128 + Intron SNP C G G 2011-2318:2012-356-T g.chr16:89022128C>G uc002fmm.1 - CBFA2T3_uc002fmn.1_Intron NM_005187 NP_005178 CBFA2T3 863 broad.mit.edu 37 16 89022152 89022152 + Intron SNP C T T 2011-2318:2012-356-T g.chr16:89022152C>T uc002fmm.1 - CBFA2T3_uc002fmn.1_Intron NM_005187 NP_005178 P2RX5 5026 broad.mit.edu 37 17 3583482 3583482 + Intron SNP C T T 2011-2318:2012-356-T g.chr17:3583482C>T uc002fwi.2 - P2RX5_uc002fwd.2_Intron|P2RX5_uc002fwh.1_Intron|P2RX5_uc010vrx.1_Intron|P2RX5_uc002fwj.2_Intron|P2RX5_uc002fwk.2_Intron|P2RX5_uc002fwl.2_Intron NM_002561 NP_002552 STAT3 6774 broad.mit.edu 37 17 40490832 40490832 + Splice_Site SNP T C C 2011-2318:2012-356-T g.chr17:40490832T>C uc002hzl.1 - 6 709 c.469_splice c.e6-1 p.D157_splice STAT3_uc002hzk.1_Splice_Site_p.D157_splice|STAT3_uc002hzm.1_Splice_Site_p.D157_splice|STAT3_uc010wgh.1_Splice_Site_p.D59_splice|STAT3_uc002hzn.1_Splice_Site_p.D157_splice NM_139276 NP_644805 PRKCA 5578 broad.mit.edu 37 17 64795440 64795440 + Intron SNP G A A 2011-2318:2012-356-T g.chr17:64795440G>A uc002jfp.1 + NM_002737 NP_002728 CDH2 1000 broad.mit.edu 37 18 25736801 25736801 + Intron SNP T C C rs17446952 2011-2318:2012-356-T g.chr18:25736801T>C uc002kwg.2 - NM_001792 NP_001783 MLLT1 4298 broad.mit.edu 37 19 6238789 6238789 + Intron SNP C T T 2011-2318:2012-356-T g.chr19:6238789C>T uc002mek.2 - NM_005934 NP_005925 NOTCH3 4854 broad.mit.edu 37 19 15291470 15291470 + Intron SNP C A A 2011-2318:2012-356-T g.chr19:15291470C>A uc002nan.2 - NOTCH3_uc002nao.1_Intron NM_000435 NP_000426 MEF2B 100271849 broad.mit.edu 37 19 19260128 19260128 + Silent SNP G A A 2011-2318:2012-356-T g.chr19:19260128G>A uc002nlm.2 - 3 279 c.165C>T c.(163-165)TTC>TTT p.F55F MEF2B_uc002nln.2_Silent_p.F102F|MEF2B_uc002nll.2_Silent_p.F55F|LOC729991-MEF2B_uc010xqo.1_Silent_p.F55F|LOC729991-MEF2B_uc010xqp.1_Silent_p.F55F|LOC729991-MEF2B_uc002nlo.2_Silent_p.F55F|LOC729991-MEF2B_uc002nlp.2_Silent_p.F55F|MEF2B_uc002nlk.2_Silent_p.F55F NM_001145785 NP_001139257 NTN5 126147 broad.mit.edu 37 19 49172584 49172584 + Intron SNP C T T 2011-2318:2012-356-T g.chr19:49172584C>T uc002pkb.2 - SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|NTN5_uc002pkc.2_Intron NM_145807 NP_665806 ETFB 2109 broad.mit.edu 37 19 51849188 51849188 + Intron SNP C G G 2011-2318:2012-356-T g.chr19:51849188C>G uc002pwh.2 - ETFB_uc002pwg.2_Intron NM_001985 NP_001976 ETFB 2109 broad.mit.edu 37 19 51849216 51849216 + Intron SNP C T T 2011-2318:2012-356-T g.chr19:51849216C>T uc002pwh.2 - ETFB_uc002pwg.2_Intron NM_001985 NP_001976 NLRP4 147945 broad.mit.edu 37 19 56361904 56361904 + Intron SNP C T T 2011-2318:2012-356-T g.chr19:56361904C>T uc002qmd.3 + NM_134444 NP_604393 MYT1L 23040 broad.mit.edu 37 2 2008059 2008059 + Intron SNP A C C 2011-2318:2012-356-T g.chr2:2008059A>C uc002qxe.2 - MYT1L_uc002qxd.2_Intron|MYT1L_uc002qxf.1_Intron NM_015025 NP_055840 MYT1L 23040 broad.mit.edu 37 2 2193545 2193545 + Intron SNP C T T 2011-2318:2012-356-T g.chr2:2193545C>T uc002qxe.2 - MYT1L_uc002qxd.2_Intron NM_015025 NP_055840 LTBP1 4052 broad.mit.edu 37 2 33590536 33590536 + Silent SNP C A A 2011-2318:2012-356-T g.chr2:33590536C>A uc002ros.2 + 31 4680 c.4680C>A c.(4678-4680)GGC>GGA p.G1560G LTBP1_uc002rot.2_Silent_p.G1234G|LTBP1_uc002rou.2_Silent_p.G1233G|LTBP1_uc002rov.2_Silent_p.G1180G|LTBP1_uc010ymz.1_Silent_p.G1191G|LTBP1_uc010yna.1_Silent_p.G1138G|LTBP1_uc010ynb.1_Silent_p.G457G NM_206943 NP_996826 RMND5A 64795 broad.mit.edu 37 2 87641717 87641717 + Intron SNP C A A 2011-2318:2012-356-T g.chr2:87641717C>A uc002srs.3 + TTN 7273 broad.mit.edu 37 2 179537395 179537395 + Missense_Mutation SNP G C C 2011-2318:2012-356-T g.chr2:179537395G>C uc010zfg.1 - 148 31143 c.30919C>G c.(30919-30921)CCT>GCT p.P10307A TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6968A|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_RNA|TTN_uc010frf.1_Intron NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179575454 179575455 + Missense_Mutation DNP AG TA TA 2011-2318:2012-356-T g.chr2:179575454_179575455AG>TA uc010zfg.1 - 95 24861_24862 c.24637_24638CT>TA c.(24637-24639)CTC>TAC p.L8213Y TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L4874Y NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179611600 179611600 + Missense_Mutation SNP G T T 2011-2318:2012-356-T g.chr2:179611600G>T uc002unb.2 - 46 15751 c.15527C>A c.(15526-15528)CCA>CAA p.P5176Q TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 TTN 7273 broad.mit.edu 37 2 179642400 179642400 + Intron SNP T C C 2011-2318:2012-356-T g.chr2:179642400T>C uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002unb.2_Intron|uc002unc.1_RNA NM_133378 NP_596869 MAP2 4133 broad.mit.edu 37 2 210443889 210443889 + 5'Flank SNP T C C 2011-2318:2012-356-T g.chr2:210443889T>C uc002vde.1 + MAP2_uc002vdc.1_Intron|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_5'Flank|MAP2_uc002vdg.1_5'Flank NM_002374 NP_002365 MAP2 4133 broad.mit.edu 37 2 210443892 210443893 + 5'Flank DNP CC AA AA 2011-2318:2012-356-T g.chr2:210443892_210443893CC>AA uc002vde.1 + MAP2_uc002vdc.1_Intron|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_5'Flank|MAP2_uc002vdg.1_5'Flank NM_002374 NP_002365 MAP2 4133 broad.mit.edu 37 2 210543228 210543228 + Intron SNP G C C 2011-2318:2012-356-T g.chr2:210543228G>C uc002vde.1 + MAP2_uc002vdc.1_Intron|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Intron NM_002374 NP_002365 ERBB4 2066 broad.mit.edu 37 2 212522545 212522545 + Missense_Mutation SNP C A A 2011-2318:2012-356-T g.chr2:212522545C>A uc002veg.1 - 16 1978 c.1880G>T c.(1879-1881)GGT>GTT p.G627V ERBB4_uc002veh.1_Missense_Mutation_p.G627V|ERBB4_uc010zji.1_Intron|ERBB4_uc010zjj.1_Intron|ERBB4_uc010fut.1_Missense_Mutation_p.G627V NM_005235 NP_005226 ABCA12 26154 broad.mit.edu 37 2 215914412 215914412 + Missense_Mutation SNP A G G 2011-2318:2012-356-T g.chr2:215914412A>G uc002vew.2 - 6 851 c.631T>C c.(631-633)TGC>CGC p.C211R ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 CUL3 8452 broad.mit.edu 37 2 225428059 225428059 + Intron SNP C T T 2011-2318:2012-356-T g.chr2:225428059C>T uc002vny.2 - CUL3_uc010zls.1_Intron|CUL3_uc010fwy.1_Intron NM_003590 NP_003581 DSCAM 1826 broad.mit.edu 37 21 41414451 41414451 + Missense_Mutation SNP C T T 2011-2318:2012-356-T g.chr21:41414451C>T uc002yyq.1 - 32 5985 c.5533G>A c.(5533-5535)GAG>AAG p.E1845K DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 TGFBR2 7048 broad.mit.edu 37 3 30713818 30713818 + Missense_Mutation SNP G C C 2011-2318:2012-356-T g.chr3:30713818G>C uc003ceo.2 + 4 1525 c.1143G>C c.(1141-1143)AAG>AAC p.K381N TGFBR2_uc003cen.2_Missense_Mutation_p.K406N NM_003242 NP_003233 DPPA4 55211 broad.mit.edu 37 3 109050700 109050700 + Intron SNP C A A 2011-2318:2012-356-T g.chr3:109050700C>A uc003dxq.3 - DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Intron NM_018189 NP_060659 CHCHD6 84303 broad.mit.edu 37 3 126582025 126582025 + Intron SNP C T T 2011-2318:2012-356-T g.chr3:126582025C>T uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 EPHB1 2047 broad.mit.edu 37 3 134911380 134911380 + Intron SNP G T T 2011-2318:2012-356-T g.chr3:134911380G>T uc003eqt.2 + EPHB1_uc003equ.2_Intron NM_004441 NP_004432 GAK 2580 broad.mit.edu 37 4 907941 907941 + Intron SNP C T T 2011-2318:2012-356-T g.chr4:907941C>T uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_Intron|GAK_uc003gbl.3_5'Flank NM_005255 NP_005246 KIT 3815 broad.mit.edu 37 4 55598125 55598125 + Silent SNP C T T 2011-2318:2012-356-T g.chr4:55598125C>T uc010igr.2 + 16 2409 c.2322C>T c.(2320-2322)TAC>TAT p.Y774Y KIT_uc010igs.2_Silent_p.Y770Y NM_000222 NP_000213 KDR 3791 broad.mit.edu 37 4 55946257 55946257 + Missense_Mutation SNP C T T 2011-2318:2012-356-T g.chr4:55946257C>T uc003has.2 - 30 4224 c.3922G>A c.(3922-3924)GGA>AGA p.G1308R KDR_uc003hat.1_Missense_Mutation_p.G1308R NM_002253 NP_002244 INPP4B 8821 broad.mit.edu 37 4 143350251 143350251 + Intron SNP G T T 2011-2318:2012-356-T g.chr4:143350251G>T uc003iix.3 - INPP4B_uc003iiw.3_Intron|INPP4B_uc011chm.1_Intron|INPP4B_uc011cho.1_Intron|INPP4B_uc003iiz.2_Intron NM_003866 NP_003857 DNAH5 1767 broad.mit.edu 37 5 13700663 13700663 + Intron SNP T C C 2011-2318:2012-356-T g.chr5:13700663T>C uc003jfd.2 - DNAH5_uc003jfc.2_Intron NM_001369 NP_001360 DNAH5 1767 broad.mit.edu 37 5 13727636 13727636 + Missense_Mutation SNP G A A 2011-2318:2012-356-T g.chr5:13727636G>A uc003jfd.2 - 70 12055 c.12013C>T c.(12013-12015)CCT>TCT p.P4005S DNAH5_uc003jfc.2_Missense_Mutation_p.P173S NM_001369 NP_001360 IL6ST 3572 broad.mit.edu 37 5 55278679 55278679 + Intron SNP G C C 2011-2318:2012-356-T g.chr5:55278679G>C uc003jqq.2 - IL6ST_uc011cqk.1_5'Flank|IL6ST_uc003jqr.2_Intron NM_002184 NP_002175 PCDHB4 56131 broad.mit.edu 37 5 140504018 140504018 + 3'UTR SNP A C C 2011-2318:2012-356-T g.chr5:140504018A>C uc003lip.1 + 1 NM_018938 NP_061761 PCDHB7 56129 broad.mit.edu 37 5 140553763 140553763 + Silent SNP C T T 2011-2318:2012-356-T g.chr5:140553763C>T uc003lit.2 + 1 1521 c.1347C>T c.(1345-1347)CCC>CCT p.P449P NM_018940 NP_061763 PCDHB11 56125 broad.mit.edu 37 5 140580296 140580296 + Missense_Mutation SNP A G G 2011-2318:2012-356-T g.chr5:140580296A>G uc003liy.2 + 1 949 c.949A>G c.(949-951)ATA>GTA p.I317V PCDHB11_uc011daj.1_5'UTR NM_018931 NP_061754 ADAMTS2 9509 broad.mit.edu 37 5 178562151 178562151 + Intron SNP C T T 2011-2318:2012-356-T g.chr5:178562151C>T uc003mjw.2 - NM_014244 NP_055059 RUFY1 80230 broad.mit.edu 37 5 178996454 178996454 + Intron SNP A T T 2011-2318:2012-356-T g.chr5:178996454A>T uc003mka.1 + RUFY1_uc003mkb.1_Intron|RUFY1_uc003mkc.1_Intron NM_025158 NP_079434 RIPK1 8737 broad.mit.edu 37 6 3092822 3092822 + Intron SNP A G G 2011-2318:2012-356-T g.chr6:3092822A>G uc010jni.2 + RIPK1_uc003muv.3_Intron|RIPK1_uc003muw.3_Intron|RIPK1_uc011dhs.1_Intron|RIPK1_uc003mux.2_Intron NM_003804 NP_003795 HLA-G 3135 broad.mit.edu 37 6 29896647 29896647 + Intron SNP A G G 2011-2318:2012-356-T g.chr6:29896647A>G uc011dmb.1 + HCG4P6_uc003nog.1_Intron|uc003noi.2_Intron NM_002127 NP_002118 PHIP 55023 broad.mit.edu 37 6 79727254 79727254 + Silent SNP A C C 2011-2318:2012-356-T g.chr6:79727254A>C uc003pir.2 - 11 1267 c.1041T>G c.(1039-1041)GTT>GTG p.V347V PHIP_uc011dyp.1_Silent_p.V347V NM_017934 NP_060404 ROS1 6098 broad.mit.edu 37 6 117711053 117711053 + Intron SNP G A A 2011-2318:2012-356-T g.chr6:117711053G>A uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 ROS1 6098 broad.mit.edu 37 6 117730858 117730858 + Intron SNP T A A 2011-2318:2012-356-T g.chr6:117730858T>A uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 SYNE1 23345 broad.mit.edu 37 6 152570205 152570205 + Intron SNP C T T 2011-2318:2012-356-T g.chr6:152570205C>T uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152622916 152622916 + Intron SNP C A A 2011-2318:2012-356-T g.chr6:152622916C>A uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kiy.1_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152673362 152673362 + Missense_Mutation SNP T C C 2011-2318:2012-356-T g.chr6:152673362T>C uc010kiw.2 - 70 11982 c.11380A>G c.(11380-11382)ATG>GTG p.M3794V SYNE1_uc003qot.3_Missense_Mutation_p.M3779V|SYNE1_uc003qou.3_Missense_Mutation_p.M3794V|SYNE1_uc010kja.1_Missense_Mutation_p.M499V NM_182961 NP_892006 TMEM181 57583 broad.mit.edu 37 6 158987584 158987584 + Intron SNP G A A rs111507704 2011-2318:2012-356-T g.chr6:158987584G>A uc003qrm.3 + TMEM181_uc010kjr.1_Intron NM_020823 NP_065874 THSD7A 221981 broad.mit.edu 37 7 11581241 11581241 + Silent SNP G T T 2011-2318:2012-356-T g.chr7:11581241G>T uc003ssf.3 - 6 1879 c.1627C>A c.(1627-1629)CGG>AGG p.R543R NM_015204 NP_056019 PKD1L1 168507 broad.mit.edu 37 7 47886675 47886675 + Intron SNP A T T 2011-2318:2012-356-T g.chr7:47886675A>T uc003tny.1 - NM_138295 NP_612152 PCLO 27445 broad.mit.edu 37 7 82764662 82764662 + Missense_Mutation SNP G T T 2011-2318:2012-356-T g.chr7:82764662G>T uc003uhx.2 - 3 2493 c.2204C>A c.(2203-2205)CCC>CAC p.P735H PCLO_uc003uhv.2_Missense_Mutation_p.P735H NM_033026 NP_149015 PCLO 27445 broad.mit.edu 37 7 82785416 82785416 + Missense_Mutation SNP C G G 2011-2318:2012-356-T g.chr7:82785416C>G uc003uhx.2 - 2 830 c.541G>C c.(541-543)GAC>CAC p.D181H PCLO_uc003uhv.2_Missense_Mutation_p.D181H NM_033026 NP_149015 PIK3CG 5294 broad.mit.edu 37 7 106509435 106509435 + Missense_Mutation SNP C G G rs138344795 byFrequency 2011-2318:2012-356-T g.chr7:106509435C>G uc003vdv.3 + 2 1514 c.1429C>G c.(1429-1431)CGT>GGT p.R477G PIK3CG_uc003vdu.2_Missense_Mutation_p.R477G|PIK3CG_uc003vdw.2_Missense_Mutation_p.R477G NM_002649 NP_002640 CNTNAP2 26047 broad.mit.edu 37 7 146805442 146805442 + Nonsense_Mutation SNP G T T 2011-2318:2012-356-T g.chr7:146805442G>T uc003weu.1 + 5 1270 c.754G>T c.(754-756)GGA>TGA p.G252* NM_014141 NP_054860 CNTNAP2 26047 broad.mit.edu 37 7 147336196 147336196 + Splice_Site SNP A T T 2011-2318:2012-356-T g.chr7:147336196A>T uc003weu.1 + 13 2414 c.1898_splice c.e13-2 p.E633_splice NM_014141 NP_054860 DPP6 1804 broad.mit.edu 37 7 154570546 154570546 + Intron SNP A G G 2011-2318:2012-356-T g.chr7:154570546A>G uc003wlk.2 + DPP6_uc003wli.2_Intron|DPP6_uc003wlm.2_Intron|DPP6_uc011kvq.1_Intron NM_130797 NP_570629 PTPRN2 5799 broad.mit.edu 37 7 157852134 157852134 + Intron SNP T C C 2011-2318:2012-356-T g.chr7:157852134T>C uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157940970 157940970 + Intron SNP C T T 2011-2318:2012-356-T g.chr7:157940970C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157944097 157944097 + Intron SNP C T T 2011-2318:2012-356-T g.chr7:157944097C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158200270 158200270 + Intron SNP C G G rs28759227 by1000genomes 2011-2318:2012-356-T g.chr7:158200270C>G uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ADAM18 8749 broad.mit.edu 37 8 39525591 39525591 + Silent SNP C A A 2011-2318:2012-356-T g.chr8:39525591C>A uc003xni.2 + 14 1401 c.1401C>A c.(1399-1401)ACC>ACA p.T467T ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Silent_p.T443T NM_014237 NP_055052 PKHD1L1 93035 broad.mit.edu 37 8 110534460 110534460 + Missense_Mutation SNP G T T 2011-2318:2012-356-T g.chr8:110534460G>T uc003yne.2 + 74 12181 c.12077G>T c.(12076-12078)GGA>GTA p.G4026V NM_177531 NP_803875 CSMD3 114788 broad.mit.edu 37 8 113518958 113518958 + Silent SNP G T T rs139092367 byFrequency;by1000genomes 2011-2318:2012-356-T g.chr8:113518958G>T uc003ynu.2 - 29 5016 c.4857C>A c.(4855-4857)ACC>ACA p.T1619T CSMD3_uc003yns.2_Silent_p.T891T|CSMD3_uc003ynt.2_Silent_p.T1579T|CSMD3_uc011lhx.1_Silent_p.T1515T NM_198123 NP_937756 COL22A1 169044 broad.mit.edu 37 8 139691909 139691909 + Missense_Mutation SNP C G G 2011-2318:2012-356-T g.chr8:139691909C>G uc003yvd.2 - 40 3470 c.3023G>C c.(3022-3024)GGA>GCA p.G1008A COL22A1_uc011ljo.1_Intron NM_152888 NP_690848 TOP1MT 116447 broad.mit.edu 37 8 144405543 144405543 + Intron SNP C T T rs140726687 by1000genomes 2011-2318:2012-356-T g.chr8:144405543C>T uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 ZNF16 7564 broad.mit.edu 37 8 146172189 146172189 + Intron SNP C T T 2011-2318:2012-356-T g.chr8:146172189C>T uc003zet.2 - ZNF16_uc003zeu.2_Intron NM_001029976 NP_001025147 MELK 9833 broad.mit.edu 37 9 36643017 36643017 + Silent SNP C T T 2011-2318:2012-356-T g.chr9:36643017C>T uc003zzn.2 + 11 996 c.858C>T c.(856-858)TGC>TGT p.C286C MELK_uc011lpm.1_Silent_p.C155C|MELK_uc011lpn.1_Silent_p.C286C|MELK_uc011lpo.1_Silent_p.C92C|MELK_uc010mll.2_Silent_p.C254C|MELK_uc011lpp.1_Silent_p.C238C|MELK_uc010mlm.2_Silent_p.C215C|MELK_uc011lpq.1_Silent_p.C92C|MELK_uc011lpr.1_Silent_p.C215C|MELK_uc011lps.1_Silent_p.C206C NM_014791 NP_055606 NOTCH1 4851 broad.mit.edu 37 9 139393274 139393274 + Intron SNP C A A rs142307776 by1000genomes 2011-2318:2012-356-T g.chr9:139393274C>A uc004chz.2 - NM_017617 NP_060087 KIAA2022 340533 broad.mit.edu 37 X 73963513 73963513 + Missense_Mutation SNP G T T 2011-2318:2012-356-T g.chrX:73963513G>T uc004eby.2 - 3 1496 c.879C>A c.(877-879)AAC>AAA p.N293K NM_001008537 NP_001008537 RGAG1 57529 broad.mit.edu 37 X 109698605 109698605 + 3'UTR SNP G C C 2011-2318:2012-356-T g.chrX:109698605G>C uc004eor.1 + 4 NM_020769 NP_065820 PRKCZ 5590 broad.mit.edu 37 1 2055826 2055826 + Intron SNP G A A rs145155163 by1000genomes 2011-2319:2012-355-T g.chr1:2055826G>A uc001aiq.2 + PRKCZ_uc001air.2_Intron|PRKCZ_uc010nyw.1_Intron|PRKCZ_uc001ais.2_Intron NM_002744 NP_002735 OPRL1 4987 broad.mit.edu 37 20 62720158 62720158 + Intron SNP T C C rs62218111 2011-2319:2012-355-T g.chr20:62720158T>C uc002yic.2 + OPRL1_uc002yid.2_Intron NM_182647 NP_872588 MAD1L1 8379 broad.mit.edu 37 7 1910768 1910768 + Intron SNP C A A rs75450597 by1000genomes 2011-2319:2012-355-T g.chr7:1910768C>A uc003slh.1 - MAD1L1_uc003sle.1_Intron|MAD1L1_uc003slf.1_Intron|MAD1L1_uc003slg.1_Intron|MAD1L1_uc010ksh.1_Intron|MAD1L1_uc003sli.1_Intron|MAD1L1_uc003sld.1_Intron NM_001013836 NP_001013858 NOTCH2 4853 broad.mit.edu 37 1 120463044 120463044 + Intron SNP C T T rs41306195 byFrequency;by1000genomes 2011-2320:2012-354-T g.chr1:120463044C>T uc001eik.2 - NM_024408 NP_077719 SPTA1 6708 broad.mit.edu 37 1 158656758 158656758 + 5'Flank SNP A G G rs443000 by1000genomes 2011-2320:2012-354-T g.chr1:158656758A>G uc001fst.1 - NM_003126 NP_003117 CCDC6 8030 broad.mit.edu 37 10 61642188 61642188 + Intron SNP G C C 2011-2320:2012-354-T g.chr10:61642188G>C uc001jks.3 - NM_005436 NP_005427 MCF2L 23263 broad.mit.edu 37 13 113659706 113659706 + Intron SNP G A A rs12019546 by1000genomes 2011-2320:2012-354-T g.chr13:113659706G>A uc001vsu.2 + MCF2L_uc001vsq.2_Intron|MCF2L_uc010tjr.1_Intron|MCF2L_uc001vsr.2_Intron|MCF2L_uc001vss.3_Intron|MCF2L_uc010tjs.1_Intron NM_001112732 NP_001106203 RPTOR 57521 broad.mit.edu 37 17 78718138 78718138 + Intron SNP C T T rs146122736 2011-2320:2012-354-T g.chr17:78718138C>T uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 STAT1 6772 broad.mit.edu 37 2 191879243 191879243 + 5'Flank SNP T C C rs13027915 by1000genomes 2011-2320:2012-354-T g.chr2:191879243T>C uc002usj.2 - STAT1_uc010fse.1_5'Flank|STAT1_uc002usk.2_5'Flank|STAT1_uc002usl.2_5'Flank|STAT1_uc010fsf.1_5'Flank NM_007315 NP_009330 STAT1 6772 broad.mit.edu 37 2 191879251 191879251 + 5'Flank SNP T C C rs13027923 by1000genomes 2011-2320:2012-354-T g.chr2:191879251T>C uc002usj.2 - STAT1_uc010fse.1_5'Flank|STAT1_uc002usk.2_5'Flank|STAT1_uc002usl.2_5'Flank|STAT1_uc010fsf.1_5'Flank NM_007315 NP_009330 CDH4 1002 broad.mit.edu 37 20 59981647 59981647 + Intron SNP C T T rs6089501 by1000genomes 2011-2320:2012-354-T g.chr20:59981647C>T uc002ybn.1 + NM_001794 NP_001785 SI 6476 broad.mit.edu 37 3 164772957 164772957 + Intron SNP C T T rs9290256 by1000genomes 2011-2320:2012-354-T g.chr3:164772957C>T uc003fei.2 - NM_001041 NP_001032 SI 6476 broad.mit.edu 37 3 164781368 164781368 + Intron SNP G A A rs11718901 by1000genomes 2011-2320:2012-354-T g.chr3:164781368G>A uc003fei.2 - NM_001041 NP_001032 LPP 4026 broad.mit.edu 37 3 188426256 188426256 + Intron SNP A G G rs9877192 by1000genomes 2011-2320:2012-354-T g.chr3:188426256A>G uc003frs.1 + LPP_uc011bsg.1_Intron|LPP_uc011bsi.1_Intron|LPP_uc003frt.2_3'UTR|LPP_uc011bsj.1_Intron NM_005578 NP_005569 C7orf50 84310 broad.mit.edu 37 7 1056401 1056401 + Intron SNP A G G rs114922888 by1000genomes 2011-2320:2012-354-T g.chr7:1056401A>G uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 SLCO5A1 81796 broad.mit.edu 37 8 70744582 70744582 + Silent SNP G A A rs145247874 2011-2320:2012-354-T g.chr8:70744582G>A uc003xyl.2 - 2 1034 c.327C>T c.(325-327)TCC>TCT p.S109S SLCO5A1_uc010lzb.2_Silent_p.S109S|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.S109S|SLCO5A1_uc010lzc.2_Silent_p.S109S NM_030958 NP_112220 RIMS2 9699 broad.mit.edu 37 8 104987771 104987771 + Intron SNP G A A rs72683111 by1000genomes 2011-2320:2012-354-T g.chr8:104987771G>A uc003yls.2 + RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Intron|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_3'UTR NM_014677 NP_055492 DPYS 1807 broad.mit.edu 37 8 105459793 105459793 + Intron SNP C A A rs7821992 by1000genomes 2011-2320:2012-354-T g.chr8:105459793C>A uc003yly.3 - NM_001385 NP_001376 CSMD3 114788 broad.mit.edu 37 8 113585637 113585637 + Intron SNP A G G rs7014796 by1000genomes 2011-2320:2012-354-T g.chr8:113585637A>G uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 ENPP2 5168 broad.mit.edu 37 8 120598395 120598395 + Intron SNP G A A rs72688223 byFrequency;by1000genomes 2011-2320:2012-354-T g.chr8:120598395G>A uc003yot.1 - ENPP2_uc011lic.1_5'Flank|ENPP2_uc003yor.1_Intron|ENPP2_uc003yos.1_Intron|ENPP2_uc010mdd.1_Intron NM_001040092 NP_001035181 PBX3 5090 broad.mit.edu 37 9 128677929 128677929 + Intron SNP T C C rs138144415 by1000genomes 2011-2320:2012-354-T g.chr9:128677929T>C uc004bqb.2 + PBX3_uc004bqc.2_Intron|PBX3_uc004bqd.2_Intron|PBX3_uc011lzw.1_Intron|PBX3_uc011lzx.1_Intron|PBX3_uc004bqe.2_5'Flank NM_006195 NP_006186 NUP214 8021 broad.mit.edu 37 9 134003900 134003900 + Intron SNP A G G rs967174 by1000genomes 2011-2320:2012-354-T g.chr9:134003900A>G uc004cag.2 + NUP214_uc004cah.2_Intron|NUP214_uc004caf.1_Intron NM_005085 NP_005076 NUP214 8021 broad.mit.edu 37 9 134015899 134015899 + Intron SNP C G G rs2281902 by1000genomes 2011-2320:2012-354-T g.chr9:134015899C>G uc004cag.2 + NUP214_uc004cah.2_Intron|NUP214_uc004caf.1_Intron NM_005085 NP_005076 ASMTL 8623 broad.mit.edu 37 X 1562309 1562309 + Intron SNP T A A 2011-2320:2012-354-T g.chrX:1562309T>A uc004cpx.1 - ASMTL_uc011mhe.1_Intron|ASMTL_uc004cpy.1_Intron|ASMTL_uc011mhf.1_Intron NM_004192 NP_004183 LMF1 64788 broad.mit.edu 37 16 998857 998857 + Intron SNP C T T rs34349854 2011-2321:2012-353-T g.chr16:998857C>T uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 1000355 1000355 + Intron SNP G A A 2011-2321:2012-353-T g.chr16:1000355G>A uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 FANCA 2175 broad.mit.edu 37 16 89849583 89849583 + Intron SNP C T T rs2239360 by1000genomes 2011-2321:2012-353-T g.chr16:89849583C>T uc002fou.1 - FANCA_uc010vpn.1_Intron NM_000135 NP_000126 NXN 64359 broad.mit.edu 37 17 797285 797285 + Intron SNP T A A 2011-2321:2012-353-T g.chr17:797285T>A uc002fsa.2 - NXN_uc002fsb.1_Intron NM_022463 NP_071908 TP53 7157 broad.mit.edu 37 17 7577105 7577105 + Missense_Mutation SNP G A A 2011-2321:2012-353-T g.chr17:7577105G>A uc002gim.2 - 8 1027 c.833C>T c.(832-834)CCT>CTT p.P278L TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.P278L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146L|TP53_uc010cng.1_Missense_Mutation_p.P146L|TP53_uc002gii.1_Missense_Mutation_p.P146L|TP53_uc010cnh.1_Missense_Mutation_p.P278L|TP53_uc010cni.1_Missense_Mutation_p.P278L|TP53_uc002gij.2_Missense_Mutation_p.P278L NM_001126112 NP_001119584 RAD51C 5889 broad.mit.edu 37 17 56783255 56783255 + Intron SNP C T T rs2567901 by1000genomes 2011-2321:2012-353-T g.chr17:56783255C>T uc002iwu.2 + RAD51C_uc010woa.1_Intron|RAD51C_uc010ddc.2_Intron|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_Intron NM_058216 NP_478123 DCC 1630 broad.mit.edu 37 18 50936780 50936780 + Intron SNP G A A rs10853631 by1000genomes 2011-2321:2012-353-T g.chr18:50936780G>A uc002lfe.1 + DCC_uc010xdr.1_Intron|DCC_uc010dpf.1_Intron NM_005215 NP_005206 TSSC1 7260 broad.mit.edu 37 2 3243878 3243878 + Intron SNP C T T 2011-2321:2012-353-T g.chr2:3243878C>T uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 C20orf26 26074 broad.mit.edu 37 20 20336950 20336950 + Intron SNP G T T rs73607409 2011-2321:2012-353-T g.chr20:20336950G>T uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 ZBTB46 140685 broad.mit.edu 37 20 62447416 62447416 + Intron SNP G A A rs4991876 by1000genomes 2011-2321:2012-353-T g.chr20:62447416G>A uc002ygu.2 - uc002ygw.2_Intron NM_025224 HLA-F 3134 broad.mit.edu 37 6 29691090 29691090 + 5'Flank SNP T A A rs1362125 by1000genomes 2011-2321:2012-353-T g.chr6:29691090T>A uc010jrl.2 + HLA-F_uc003nnm.3_5'Flank|HLA-F_uc003nno.3_5'Flank|HLA-F_uc011dlx.1_5'Flank|HLA-F_uc011dly.1_5'Flank NM_018950 NP_061823 PTPRN2 5799 broad.mit.edu 37 7 158144867 158144867 + Intron SNP C G G 2011-2321:2012-353-T g.chr7:158144867C>G uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ERICH1 157697 broad.mit.edu 37 8 626376 626376 + Intron SNP A G G rs78913982 2011-2321:2012-353-T g.chr8:626376A>G uc003wph.2 - ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron|ERICH1_uc003wpi.2_5'Flank NM_207332 NP_997215 EPHA2 1969 broad.mit.edu 37 1 16460355 16460355 + Missense_Mutation SNP C G G 2011-2322:2012-352-T g.chr1:16460355C>G uc001aya.1 - 9 1875 c.1738G>C c.(1738-1740)GAA>CAA p.E580Q NM_004431 NP_004422 COL11A1 1301 broad.mit.edu 37 1 103544222 103544222 + Silent SNP A C C 2011-2322:2012-352-T g.chr1:103544222A>C uc001dul.2 - 3 798 c.480T>G c.(478-480)GCT>GCG p.A160A COL11A1_uc001dum.2_Silent_p.A160A|COL11A1_uc001dun.2_Silent_p.A160A|COL11A1_uc009weh.2_Silent_p.A160A NM_001854 NP_001845 NOS1AP 9722 broad.mit.edu 37 1 162334364 162334364 + Intron SNP C A A 2011-2322:2012-352-T g.chr1:162334364C>A uc001gbv.2 + NOS1AP_uc010pks.1_Intron|NOS1AP_uc001gbw.2_Intron|NOS1AP_uc009wut.1_Translation_Start_Site NM_014697 NP_055512 DDR2 4921 broad.mit.edu 37 1 162737215 162737215 + Intron SNP C A A 2011-2322:2012-352-T g.chr1:162737215C>A uc001gcf.2 + DDR2_uc001gcg.2_Intron NM_001014796 NP_001014796 DDR2 4921 broad.mit.edu 37 1 162748410 162748410 + Missense_Mutation SNP T C C 2011-2322:2012-352-T g.chr1:162748410T>C uc001gcf.2 + 18 2789 c.2324T>C c.(2323-2325)GTT>GCT p.V775A DDR2_uc001gcg.2_Missense_Mutation_p.V775A NM_001014796 NP_001014796 USH2A 7399 broad.mit.edu 37 1 216172433 216172433 + Intron SNP T C C 2011-2322:2012-352-T g.chr1:216172433T>C uc001hku.1 - NM_206933 NP_996816 GRK5 2869 broad.mit.edu 37 10 121187299 121187299 + Intron SNP T G G 2011-2322:2012-352-T g.chr10:121187299T>G uc001led.2 + GRK5_uc009xzh.2_Intron|GRK5_uc010qta.1_Intron NM_005308 NP_005299 GRK5 2869 broad.mit.edu 37 10 121187317 121187317 + Intron SNP A T T rs141177791 by1000genomes 2011-2322:2012-352-T g.chr10:121187317A>T uc001led.2 + GRK5_uc009xzh.2_Intron|GRK5_uc010qta.1_Intron NM_005308 NP_005299 GPR123 84435 broad.mit.edu 37 10 134924996 134924996 + Intron SNP A T T rs66945758 by1000genomes 2011-2322:2012-352-T g.chr10:134924996A>T uc001llx.3 + GPR123_uc001llw.2_Intron NM_001083909 NP_001077378 MUC2 4583 broad.mit.edu 37 11 1093008 1093008 + Silent SNP C T T 2011-2322:2012-352-T g.chr11:1093008C>T uc001lsx.1 + 31 11940 c.11913C>T c.(11911-11913)ATC>ATT p.I3971I NM_002457 NP_002448 MAML2 84441 broad.mit.edu 37 11 96076211 96076211 + 5'UTR SNP A G G 2011-2322:2012-352-T g.chr11:96076211A>G uc001pfw.1 - 1 NM_032427 NP_115803 TSPAN9 10867 broad.mit.edu 37 12 3378656 3378656 + Intron SNP C T T rs5018184 by1000genomes 2011-2322:2012-352-T g.chr12:3378656C>T uc001qlp.2 + NM_006675 NP_006666 TSPAN9 10867 broad.mit.edu 37 12 3378658 3378658 + Intron SNP G C C rs5018185 by1000genomes 2011-2322:2012-352-T g.chr12:3378658G>C uc001qlp.2 + NM_006675 NP_006666 TSPAN9 10867 broad.mit.edu 37 12 3378700 3378700 + Intron SNP G A A rs5018186 2011-2322:2012-352-T g.chr12:3378700G>A uc001qlp.2 + NM_006675 NP_006666 EPS8 2059 broad.mit.edu 37 12 15811530 15811530 + Intron SNP A G G 2011-2322:2012-352-T g.chr12:15811530A>G uc009zif.2 - EPS8_uc001rdb.2_Intron|EPS8_uc009zig.2_Intron|EPS8_uc010shv.1_Intron NM_004447 NP_004438 KRAS 3845 broad.mit.edu 37 12 25398262 25398262 + Missense_Mutation SNP C G G rs121913538 2011-2322:2012-352-T g.chr12:25398262C>G uc001rgp.1 - 2 238 c.57G>C c.(55-57)TTG>TTC p.L19F KRAS_uc001rgq.1_Missense_Mutation_p.L19F|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 ABCD2 225 broad.mit.edu 37 12 40010858 40010858 + Missense_Mutation SNP A G G 2011-2322:2012-352-T g.chr12:40010858A>G uc001rmb.2 - 2 1478 c.1052T>C c.(1051-1053)GTT>GCT p.V351A NM_005164 NP_005155 LRRK2 120892 broad.mit.edu 37 12 40668638 40668638 + Intron SNP T C C 2011-2322:2012-352-T g.chr12:40668638T>C uc001rmg.3 + LRRK2_uc001rmh.1_Intron NM_198578 NP_940980 MLL2 8085 broad.mit.edu 37 12 49424713 49424713 + Missense_Mutation SNP A G G 2011-2322:2012-352-T g.chr12:49424713A>G uc001rta.3 - 40 13634 c.13634T>C c.(13633-13635)GTC>GCC p.V4545A NM_003482 NP_003473 TMEM132D 121256 broad.mit.edu 37 12 129573283 129573283 + Intron SNP C T T 2011-2322:2012-352-T g.chr12:129573283C>T uc009zyl.1 - TMEM132D_uc001uia.2_5'Flank NM_133448 NP_597705 TFDP1 7027 broad.mit.edu 37 13 114279897 114279897 + Intron SNP T C C 2011-2322:2012-352-T g.chr13:114279897T>C uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 LRFN5 145581 broad.mit.edu 37 14 42356325 42356325 + Missense_Mutation SNP C A A 2011-2322:2012-352-T g.chr14:42356325C>A uc001wvm.2 + 3 1695 c.497C>A c.(496-498)GCT>GAT p.A166D LRFN5_uc010ana.2_Missense_Mutation_p.A166D NM_152447 NP_689660 FANCM 57697 broad.mit.edu 37 14 45639980 45639980 + Intron SNP T C C rs76620062 by1000genomes 2011-2322:2012-352-T g.chr14:45639980T>C uc001wwd.3 + FANCM_uc010anf.2_Intron|FANCM_uc001wwe.3_Intron NM_020937 NP_065988 SYNE2 23224 broad.mit.edu 37 14 64416814 64416814 + Intron SNP A G G rs2775001 by1000genomes 2011-2322:2012-352-T g.chr14:64416814A>G uc001xgm.2 + SYNE2_uc001xgk.2_Intron|SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64416898 64416898 + Intron SNP T G G rs2781426 by1000genomes 2011-2322:2012-352-T g.chr14:64416898T>G uc001xgm.2 + SYNE2_uc001xgk.2_Intron|SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64428201 64428201 + Intron SNP T C C 2011-2322:2012-352-T g.chr14:64428201T>C uc001xgm.2 + SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64522724 64522724 + Silent SNP G A A 2011-2322:2012-352-T g.chr14:64522724G>A uc001xgm.2 + 49 10037 c.9807G>A c.(9805-9807)GTG>GTA p.V3269V SYNE2_uc001xgl.2_Silent_p.V3269V|SYNE2_uc010apw.1_5'UTR NM_015180 NP_055995 FOXN3 1112 broad.mit.edu 37 14 89828322 89828322 + Intron SNP T A A 2011-2322:2012-352-T g.chr14:89828322T>A uc001xxo.3 - FOXN3_uc001xxn.3_Intron|FOXN3_uc010atk.2_Intron NM_001085471 NP_001078940 TRIP11 9321 broad.mit.edu 37 14 92471901 92471901 + Missense_Mutation SNP T C C 2011-2322:2012-352-T g.chr14:92471901T>C uc001xzy.2 - 11 3207 c.2419A>G c.(2419-2421)ACA>GCA p.T807A TRIP11_uc010auf.1_Missense_Mutation_p.T543A NM_004239 NP_004230 TRAF3 7187 broad.mit.edu 37 14 103371724 103371724 + Missense_Mutation SNP C A A 2011-2322:2012-352-T g.chr14:103371724C>A uc001ymc.1 + 12 1663 c.1310C>A c.(1309-1311)ACC>AAC p.T437N TRAF3_uc001yme.1_Missense_Mutation_p.T412N|TRAF3_uc001ymd.1_Missense_Mutation_p.T437N|TRAF3_uc010txy.1_Missense_Mutation_p.T354N NM_145725 NP_663777 MAPKBP1 23005 broad.mit.edu 37 15 42110302 42110302 + Intron SNP A G G 2011-2322:2012-352-T g.chr15:42110302A>G uc001zok.3 + MAPKBP1_uc001zoj.3_Intron|MAPKBP1_uc010bcj.2_Intron|MAPKBP1_uc010bci.2_Intron|MAPKBP1_uc010udb.1_Intron|MAPKBP1_uc010bck.2_Intron|MAPKBP1_uc010bcl.2_Intron NM_001128608 NP_001122080 ANXA2 302 broad.mit.edu 37 15 60642156 60642156 + Intron SNP C G G rs8026244 2011-2322:2012-352-T g.chr15:60642156C>G uc002agn.2 - ANXA2_uc002agk.2_Intron|ANXA2_uc002agl.2_Intron|ANXA2_uc002agm.2_Intron|ANXA2_uc010uhd.1_Intron NM_001136015 NP_001129487 BTBD12 84464 broad.mit.edu 37 16 3658631 3658631 + Missense_Mutation SNP G A A 2011-2322:2012-352-T g.chr16:3658631G>A uc002cvp.2 - 2 962 c.335C>T c.(334-336)CCG>CTG p.P112L BTBD12_uc002cvq.1_Missense_Mutation_p.P112L NM_032444 NP_115820 DNAH3 55567 broad.mit.edu 37 16 21139049 21139049 + Missense_Mutation SNP G C C 2011-2322:2012-352-T g.chr16:21139049G>C uc010vbe.1 - 8 1167 c.1167C>G c.(1165-1167)ATC>ATG p.I389M DNAH3_uc002die.2_Missense_Mutation_p.I360M NM_017539 NP_060009 PALB2 79728 broad.mit.edu 37 16 23649440 23649440 + Missense_Mutation SNP T C C 2011-2322:2012-352-T g.chr16:23649440T>C uc002dlx.1 - 2 259 c.59A>G c.(58-60)AAA>AGA p.K20R NM_024675 NP_078951 CYLD 1540 broad.mit.edu 37 16 50821716 50821716 + Silent SNP T C C 2011-2322:2012-352-T g.chr16:50821716T>C uc002egp.1 + 14 2476 c.2061T>C c.(2059-2061)AAT>AAC p.N687N CYLD_uc010cbs.1_Silent_p.N684N|CYLD_uc002egq.1_Silent_p.N684N|CYLD_uc002egr.1_Silent_p.N684N NM_015247 NP_056062 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T C C 2011-2322:2012-352-T g.chr17:7578394T>C uc002gim.2 - 5 730 c.536A>G c.(535-537)CAT>CGT p.H179R TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.2_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.1_Missense_Mutation_p.H140R NM_001126112 NP_001119584 ACACA 31 broad.mit.edu 37 17 35456403 35456403 + Intron SNP G T T 2011-2322:2012-352-T g.chr17:35456403G>T uc002hnm.2 - ACACA_uc002hnk.2_Intron|ACACA_uc002hnl.2_Intron|ACACA_uc002hnn.2_Intron|ACACA_uc002hno.2_Intron|ACACA_uc010cuy.2_Intron|ACACA_uc010wdb.1_Intron|ACACA_uc010wdc.1_Intron NM_198836 NP_942133 STAT3 6774 broad.mit.edu 37 17 40489939 40489939 + Intron SNP T G G rs62075766 by1000genomes 2011-2322:2012-352-T g.chr17:40489939T>G uc002hzl.1 - STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron NM_139276 NP_644805 BRCA1 672 broad.mit.edu 37 17 41321896 41321896 + Intron SNP T C C 2011-2322:2012-352-T g.chr17:41321896T>C uc010whp.1 - uc010czc.2_Intron|NBR1_uc010czd.2_5'Flank|NBR1_uc010diz.2_5'Flank|NBR1_uc010whu.1_5'Flank|NBR1_uc010whv.1_5'Flank|NBR1_uc010whw.1_5'Flank NM_007298 NP_009229 RSAD1 55316 broad.mit.edu 37 17 48553655 48553655 + 5'Flank SNP G C C 2011-2322:2012-352-T g.chr17:48553655G>C uc002iqw.1 + RSAD1_uc010wmp.1_5'Flank|RSAD1_uc010wmq.1_5'Flank NM_018346 NP_060816 PRKCA 5578 broad.mit.edu 37 17 64794950 64794950 + Intron SNP G T T 2011-2322:2012-352-T g.chr17:64794950G>T uc002jfp.1 + NM_002737 NP_002728 PRKCA 5578 broad.mit.edu 37 17 64795185 64795185 + Intron SNP G A A 2011-2322:2012-352-T g.chr17:64795185G>A uc002jfp.1 + NM_002737 NP_002728 CABLES1 91768 broad.mit.edu 37 18 20798577 20798577 + Intron SNP C T T 2011-2322:2012-352-T g.chr18:20798577C>T uc002kuc.2 + C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Intron|CABLES1_uc002kud.2_Intron NM_001100619 NP_001094089 PIK3C3 5289 broad.mit.edu 37 18 39550299 39550299 + Missense_Mutation SNP G A A 2011-2322:2012-352-T g.chr18:39550299G>A uc002lap.2 + 4 468 c.410G>A c.(409-411)CGC>CAC p.R137H PIK3C3_uc010xcl.1_Missense_Mutation_p.R74H|PIK3C3_uc002lao.2_Missense_Mutation_p.R137H NM_002647 NP_002638 LILRA3 11026 broad.mit.edu 37 19 54803294 54803294 + Missense_Mutation SNP G A A 2011-2322:2012-352-T g.chr19:54803294G>A uc002qfd.2 - 4 448 c.383C>T c.(382-384)TCA>TTA p.S128L LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.S128L NM_006865 NP_006856 SH3YL1 26751 broad.mit.edu 37 2 235850 235850 + Intron SNP C T T 2011-2322:2012-352-T g.chr2:235850C>T uc002qvx.2 - SH3YL1_uc002qvy.2_Intron|SH3YL1_uc002qvz.2_Intron|SH3YL1_uc002qwa.2_Intron|SH3YL1_uc010ewe.2_Intron|SH3YL1_uc002qvu.2_Intron|SH3YL1_uc002qvv.2_Intron|SH3YL1_uc002qvw.2_Intron NM_015677 NP_056492 LRP1B 53353 broad.mit.edu 37 2 141597811 141597811 + Intron SNP A G G 2011-2322:2012-352-T g.chr2:141597811A>G uc002tvj.1 - NM_018557 NP_061027 TTN 7273 broad.mit.edu 37 2 179414537 179414537 + Missense_Mutation SNP T C C 2011-2322:2012-352-T g.chr2:179414537T>C uc010zfg.1 - 287 84432 c.84208A>G c.(84208-84210)ACT>GCT p.T28070A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T21765A|TTN_uc010zfi.1_Missense_Mutation_p.T21698A|TTN_uc010zfj.1_Missense_Mutation_p.T21573A NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179463930 179463930 + Missense_Mutation SNP T C C 2011-2322:2012-352-T g.chr2:179463930T>C uc010zfg.1 - 239 49110 c.48886A>G c.(48886-48888)AAA>GAA p.K16296E uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K9991E|TTN_uc010zfi.1_Missense_Mutation_p.K9924E|TTN_uc010zfj.1_Missense_Mutation_p.K9799E NM_133378 NP_596869 ERBB4 2066 broad.mit.edu 37 2 212251809 212251809 + Missense_Mutation SNP G T T 2011-2322:2012-352-T g.chr2:212251809G>T uc002veg.1 - 27 3348 c.3250C>A c.(3250-3252)CCA>ACA p.P1084T ERBB4_uc002veh.1_Missense_Mutation_p.P1068T|ERBB4_uc010zji.1_Missense_Mutation_p.P1074T|ERBB4_uc010zjj.1_Missense_Mutation_p.P1058T NM_005235 NP_005226 EPHA4 2043 broad.mit.edu 37 2 222437059 222437059 + 5'Flank SNP A G G 2011-2322:2012-352-T g.chr2:222437059A>G uc002vmq.2 - EPHA4_uc002vmr.2_5'Flank|EPHA4_uc010zlm.1_5'Flank|EPHA4_uc010zln.1_Intron|uc002vms.1_5'Flank NM_004438 NP_004429 TAF4 6874 broad.mit.edu 37 20 60561123 60561123 + Intron SNP A C C 2011-2322:2012-352-T g.chr20:60561123A>C uc002ybs.2 - NM_003185 NP_003176 MICAL3 57553 broad.mit.edu 37 22 18359800 18359800 + Intron SNP T G G 2011-2322:2012-352-T g.chr22:18359800T>G uc002zng.3 - MICAL3_uc011agl.1_Intron|MICAL3_uc002znh.2_Intron|MICAL3_uc002znj.1_Intron|MICAL3_uc002znk.1_Intron|MICAL3_uc002znl.1_Intron|MICAL3_uc002znm.2_Intron|MICAL3_uc010grf.2_Intron NM_015241 NP_056056 EP300 2033 broad.mit.edu 37 22 41531616 41531616 + Intron SNP T C C 2011-2322:2012-352-T g.chr22:41531616T>C uc003azl.3 + NM_001429 NP_001420 BBX 56987 broad.mit.edu 37 3 107495255 107495255 + Intron SNP A G G 2011-2322:2012-352-T g.chr3:107495255A>G uc010hpr.2 + BBX_uc003dwk.3_Intron|BBX_uc003dwl.3_Intron|BBX_uc003dwm.3_Intron|BBX_uc003dwo.3_Intron NM_001142568 NP_001136040 BBX 56987 broad.mit.edu 37 3 107517352 107517352 + Intron SNP T A A 2011-2322:2012-352-T g.chr3:107517352T>A uc010hpr.2 + BBX_uc003dwk.3_Intron|BBX_uc003dwl.3_Intron|BBX_uc003dwm.3_Intron|BBX_uc003dwo.3_Intron NM_001142568 NP_001136040 EPHB1 2047 broad.mit.edu 37 3 134670235 134670235 + Missense_Mutation SNP A G G 2011-2322:2012-352-T g.chr3:134670235A>G uc003eqt.2 + 3 366 c.146A>G c.(145-147)GAT>GGT p.D49G EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.D49G NM_004441 NP_004432 SI 6476 broad.mit.edu 37 3 164786536 164786536 + Missense_Mutation SNP G C C 2011-2322:2012-352-T g.chr3:164786536G>C uc003fei.2 - 5 519 c.457C>G c.(457-459)CAG>GAG p.Q153E NM_001041 NP_001032 PIK3CA 5290 broad.mit.edu 37 3 178947178 178947178 + Missense_Mutation SNP T C C 2011-2322:2012-352-T g.chr3:178947178T>C uc003fjk.2 + 18 2771 c.2614T>C c.(2614-2616)TTC>CTC p.F872L NM_006218 NP_006209 BCL6 604 broad.mit.edu 37 3 187454437 187454437 + 5'Flank SNP A G G 2011-2322:2012-352-T g.chr3:187454437A>G uc003frp.3 - BCL6_uc011bsf.1_5'Flank|BCL6_uc010hza.2_5'Flank|BCL6_uc003frq.1_Intron NM_001130845 NP_001124317 WHSC1 7468 broad.mit.edu 37 4 1977445 1977445 + Intron SNP C T T 2011-2322:2012-352-T g.chr4:1977445C>T uc003gdz.3 + WHSC1_uc003geb.3_Intron|WHSC1_uc003gec.3_Intron|WHSC1_uc003ged.3_Intron|WHSC1_uc003gee.3_Intron|WHSC1_uc003gef.3_Intron|WHSC1_uc003gei.3_Intron|WHSC1_uc011bvh.1_Intron|WHSC1_uc010icf.2_Intron NM_001042424 NP_001035889 AFAP1 60312 broad.mit.edu 37 4 7865857 7865857 + Intron SNP C G G rs147755073 by1000genomes 2011-2322:2012-352-T g.chr4:7865857C>G uc003gkg.1 - AFAP1_uc011bwk.1_Intron NM_198595 NP_940997 KDR 3791 broad.mit.edu 37 4 55972962 55972962 + Silent SNP C T T 2011-2322:2012-352-T g.chr4:55972962C>T uc003has.2 - 11 1730 c.1428G>A c.(1426-1428)GTG>GTA p.V476V KDR_uc003hat.1_Silent_p.V476V|KDR_uc011bzx.1_Silent_p.V476V NM_002253 NP_002244 REST 5978 broad.mit.edu 37 4 57793964 57793964 + Intron SNP C G G 2011-2322:2012-352-T g.chr4:57793964C>G uc003hch.2 + REST_uc003hci.2_Intron|REST_uc010ihf.2_Intron NM_005612 NP_005603 TET2 54790 broad.mit.edu 37 4 106157899 106157899 + Nonsense_Mutation SNP G T T 2011-2322:2012-352-T g.chr4:106157899G>T uc003hxk.2 + 3 3186 c.2800G>T c.(2800-2802)GGA>TGA p.G934* TET2_uc011cez.1_Nonsense_Mutation_p.G955*|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Nonsense_Mutation_p.G934*|TET2_uc003hxi.1_Nonsense_Mutation_p.G934* NM_001127208 NP_001120680 FAT4 79633 broad.mit.edu 37 4 126328159 126328159 + Nonsense_Mutation SNP C A A 2011-2322:2012-352-T g.chr4:126328159C>A uc003ifj.3 + 3 5432 c.5432C>A c.(5431-5433)TCA>TAA p.S1811* FAT4_uc011cgp.1_Nonsense_Mutation_p.S109* NM_024582 NP_078858 INPP4B 8821 broad.mit.edu 37 4 143129551 143129551 + Intron SNP T C C 2011-2322:2012-352-T g.chr4:143129551T>C uc003iix.3 - INPP4B_uc003iiw.3_Intron|INPP4B_uc011chm.1_Intron|INPP4B_uc011chn.1_Intron|INPP4B_uc011cho.1_Intron|INPP4B_uc011chp.1_Intron NM_003866 NP_003857 FAT1 2195 broad.mit.edu 37 4 187521636 187521636 + Intron SNP T C C 2011-2322:2012-352-T g.chr4:187521636T>C uc003izf.2 - NM_005245 NP_005236 CLPTM1L 81037 broad.mit.edu 37 5 1330019 1330019 + Intron SNP A G G 2011-2322:2012-352-T g.chr5:1330019A>G uc003jch.2 - CLPTM1L_uc003jcg.2_Intron NM_030782 NP_110409 CTNND2 1501 broad.mit.edu 37 5 11732346 11732346 + Missense_Mutation SNP C T T rs150306957 byFrequency 2011-2322:2012-352-T g.chr5:11732346C>T uc003jfa.1 - 2 221 c.76G>A c.(76-78)GAG>AAG p.E26K CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA NM_001332 NP_001323 CDH12 1010 broad.mit.edu 37 5 22853593 22853593 + 5'UTR SNP G C C 2011-2322:2012-352-T g.chr5:22853593G>C uc003jgk.2 - 1 NM_004061 NP_004052 MSH3 4437 broad.mit.edu 37 5 80168880 80168880 + Intron SNP T G G 2011-2322:2012-352-T g.chr5:80168880T>G uc003kgz.2 + NM_002439 NP_002430 PCDHA1 56147 broad.mit.edu 37 5 140166059 140166059 + Missense_Mutation SNP C T T 2011-2322:2012-352-T g.chr5:140166059C>T uc003lhb.2 + 1 184 c.184C>T c.(184-186)CGC>TGC p.R62C PCDHA1_uc003lha.2_Missense_Mutation_p.R62C|PCDHA1_uc003lgz.2_Missense_Mutation_p.R62C NM_018900 NP_061723 PCDHA12 56137 broad.mit.edu 37 5 140256783 140256783 + Missense_Mutation SNP G A A 2011-2322:2012-352-T g.chr5:140256783G>A uc003lic.2 + 1 1853 c.1726G>A c.(1726-1728)GCA>ACA p.A576T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A576T NM_018903 NP_061726 MAPK9 5601 broad.mit.edu 37 5 179669770 179669770 + Intron SNP G A A 2011-2322:2012-352-T g.chr5:179669770G>A uc003mls.3 - MAPK9_uc003mlt.3_Intron|MAPK9_uc010jlc.2_Intron|MAPK9_uc003mlv.3_Intron NM_002752 NP_002743 HLA-E 3133 broad.mit.edu 37 6 30460520 30460520 + Intron SNP C T T 2011-2322:2012-352-T g.chr6:30460520C>T uc003nqg.2 + HLA-E_uc011dmh.1_Intron NM_005516 NP_005507 HLA-E 3133 broad.mit.edu 37 6 30460721 30460721 + 3'UTR SNP A C C 2011-2322:2012-352-T g.chr6:30460721A>C uc003nqg.2 + 8 HLA-E_uc011dmh.1_3'UTR NM_005516 NP_005507 HLA-C 3107 broad.mit.edu 37 6 31237255 31237255 + Intron SNP G A A rs2523609 2011-2322:2012-352-T g.chr6:31237255G>A uc003nsy.2 - HLA-C_uc011dnj.1_Intron|HLA-C_uc003nsx.2_Intron|HLA-C_uc003nsz.2_Intron|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Intron|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron NM_002117 NP_002108 HLA-C 3107 broad.mit.edu 37 6 31237323 31237323 + Intron SNP A G G rs68094471 2011-2322:2012-352-T g.chr6:31237323A>G uc003nsy.2 - HLA-C_uc011dnj.1_Intron|HLA-C_uc003nsx.2_Intron|HLA-C_uc003nsz.2_Intron|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Intron|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron NM_002117 NP_002108 HLA-C 3107 broad.mit.edu 37 6 31237333 31237333 + Intron SNP T A A rs66772001 2011-2322:2012-352-T g.chr6:31237333T>A uc003nsy.2 - HLA-C_uc011dnj.1_Intron|HLA-C_uc003nsx.2_Intron|HLA-C_uc003nsz.2_Intron|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Intron|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron NM_002117 NP_002108 TAP1 6890 broad.mit.edu 37 6 32820422 32820422 + Intron SNP G T T 2011-2322:2012-352-T g.chr6:32820422G>T uc003ocg.2 - TAP1_uc011dqi.1_5'UTR|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank NM_000593 NP_000584 COQ3 51805 broad.mit.edu 37 6 99842421 99842421 + 5'Flank SNP G A A 2011-2322:2012-352-T g.chr6:99842421G>A uc003ppk.2 - NM_017421 NP_059117 SYNE1 23345 broad.mit.edu 37 6 152454652 152454652 + Intron SNP C G G 2011-2322:2012-352-T g.chr6:152454652C>G uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qop.3_Intron|SYNE1_uc011eez.1_Intron|SYNE1_uc003qoq.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152658256 152658256 + Intron SNP A G G 2011-2322:2012-352-T g.chr6:152658256A>G uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kja.1_Intron|SYNE1_uc010kiz.2_5'Flank NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152711395 152711395 + Intron SNP T A A rs214943 by1000genomes 2011-2322:2012-352-T g.chr6:152711395T>A uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152717850 152717850 + Intron SNP C G G 2011-2322:2012-352-T g.chr6:152717850C>G uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152784087 152784087 + Intron SNP C T T 2011-2322:2012-352-T g.chr6:152784087C>T uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qpa.1_Intron|SYNE1_uc003qow.2_5'Flank|SYNE1_uc003qox.1_Intron|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152784665 152784665 + Intron SNP T C C 2011-2322:2012-352-T g.chr6:152784665T>C uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qpa.1_Intron|SYNE1_uc003qow.2_5'Flank|SYNE1_uc003qox.1_Intron|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Intron NM_182961 NP_892006 PMS2 5395 broad.mit.edu 37 7 6026790 6026790 + Nonsense_Mutation SNP G A A 2011-2322:2012-352-T g.chr7:6026790G>A uc003spl.2 - 11 1693 c.1606C>T c.(1606-1608)CAG>TAG p.Q536* PMS2_uc003spj.2_Nonsense_Mutation_p.Q430*|PMS2_uc003spk.2_Nonsense_Mutation_p.Q401*|PMS2_uc011jwl.1_Nonsense_Mutation_p.Q401*|PMS2_uc010ktg.2_Nonsense_Mutation_p.Q225*|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Nonsense_Mutation_p.Q536* NM_000535 NP_000526 SRPK2 6733 broad.mit.edu 37 7 104783479 104783479 + Intron SNP A G G 2011-2322:2012-352-T g.chr7:104783479A>G uc003vct.2 - SRPK2_uc003vcu.2_Intron|SRPK2_uc003vcv.2_Intron|SRPK2_uc003vcw.1_Intron NM_182691 NP_872633 SRPK2 6733 broad.mit.edu 37 7 104801006 104801006 + Missense_Mutation SNP T C C 2011-2322:2012-352-T g.chr7:104801006T>C uc003vct.2 - 6 723 c.536A>G c.(535-537)AAA>AGA p.K179R SRPK2_uc003vcu.2_Missense_Mutation_p.K179R|SRPK2_uc003vcv.2_Missense_Mutation_p.K190R|SRPK2_uc003vcw.1_Missense_Mutation_p.K179R NM_182691 NP_872633 LAMB1 3912 broad.mit.edu 37 7 107580392 107580392 + Intron SNP T G G 2011-2322:2012-352-T g.chr7:107580392T>G uc003vew.2 - LAMB1_uc003vev.2_Intron NM_002291 NP_002282 KIAA1549 57670 broad.mit.edu 37 7 138566323 138566323 + Missense_Mutation SNP A T T 2011-2322:2012-352-T g.chr7:138566323A>T uc011kql.1 - 11 4089 c.4040T>A c.(4039-4041)ATC>AAC p.I1347N KIAA1549_uc011kqi.1_Missense_Mutation_p.I131N|KIAA1549_uc003vuk.3_Missense_Mutation_p.I1297N|KIAA1549_uc011kqj.1_Missense_Mutation_p.I1347N|KIAA1549_uc011kqk.1_Missense_Mutation_p.I131N NM_020910 NP_065961 EZH2 2146 broad.mit.edu 37 7 148516820 148516820 + Intron SNP A G G 2011-2322:2012-352-T g.chr7:148516820A>G uc003wfd.1 - EZH2_uc011kug.1_Intron|EZH2_uc003wfb.1_Intron|EZH2_uc003wfc.1_Intron|EZH2_uc011kuh.1_Intron|EZH2_uc011kui.1_Intron|EZH2_uc011kuj.1_Intron NM_004456 NP_004447 PTPRN2 5799 broad.mit.edu 37 7 158066718 158066718 + Intron SNP C A A rs113350652 by1000genomes 2011-2322:2012-352-T g.chr7:158066718C>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ARHGEF10 9639 broad.mit.edu 37 8 1787460 1787460 + Intron SNP T G G rs147083426 by1000genomes 2011-2322:2012-352-T g.chr8:1787460T>G uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 UNC5D 137970 broad.mit.edu 37 8 35606110 35606110 + Missense_Mutation SNP T C C 2011-2322:2012-352-T g.chr8:35606110T>C uc003xjr.1 + 12 2160 c.1832T>C c.(1831-1833)ATC>ACC p.I611T UNC5D_uc003xjs.1_Missense_Mutation_p.I606T|UNC5D_uc003xju.1_Missense_Mutation_p.I187T NM_080872 NP_543148 ZFHX4 79776 broad.mit.edu 37 8 77764201 77764201 + Missense_Mutation SNP C G G 2011-2322:2012-352-T g.chr8:77764201C>G uc003yav.2 + 10 5296 c.4909C>G c.(4909-4911)CAA>GAA p.Q1637E ZFHX4_uc003yau.1_Missense_Mutation_p.Q1682E|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q1637E NM_024721 NP_078997 UBR5 51366 broad.mit.edu 37 8 103299530 103299530 + Intron SNP G C C 2011-2322:2012-352-T g.chr8:103299530G>C uc003ykr.1 - UBR5_uc003yks.1_Intron NM_015902 NP_056986 RIMS2 9699 broad.mit.edu 37 8 104831667 104831667 + 5'UTR SNP C T T 2011-2322:2012-352-T g.chr8:104831667C>T uc003ylw.2 + 1 RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylq.2_5'UTR|RIMS2_uc003ylr.2_5'UTR NM_014677 NP_055492 CSMD3 114788 broad.mit.edu 37 8 113243689 113243689 + Intron SNP A G G 2011-2322:2012-352-T g.chr8:113243689A>G uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113349818 113349818 + Silent SNP A T T 2011-2322:2012-352-T g.chr8:113349818A>T uc003ynu.2 - 43 6954 c.6795T>A c.(6793-6795)CTT>CTA p.L2265L CSMD3_uc003yns.2_Silent_p.L1467L|CSMD3_uc003ynt.2_Silent_p.L2225L|CSMD3_uc011lhx.1_Silent_p.L2161L|CSMD3_uc003ynw.1_5'UTR NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113657526 113657526 + Intron SNP T C C 2011-2322:2012-352-T g.chr8:113657526T>C uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 PLEC 5339 broad.mit.edu 37 8 144993139 144993139 + Missense_Mutation SNP C T T 2011-2322:2012-352-T g.chr8:144993139C>T uc003zaf.1 - 32 11431 c.11261G>A c.(11260-11262)CGC>CAC p.R3754H PLEC_uc003zab.1_Missense_Mutation_p.R3617H|PLEC_uc003zac.1_Missense_Mutation_p.R3621H|PLEC_uc003zad.2_Missense_Mutation_p.R3617H|PLEC_uc003zae.1_Missense_Mutation_p.R3585H|PLEC_uc003zag.1_Missense_Mutation_p.R3595H|PLEC_uc003zah.2_Missense_Mutation_p.R3603H|PLEC_uc003zaj.2_Missense_Mutation_p.R3644H NM_201380 NP_958782 C9orf46 55848 broad.mit.edu 37 9 5469127 5469127 + Intron SNP T C C 2011-2322:2012-352-T g.chr9:5469127T>C uc003zjd.2 - NM_018465 NP_060935 FANCB 2187 broad.mit.edu 37 X 14877243 14877243 + Intron SNP G C C 2011-2322:2012-352-T g.chrX:14877243G>C uc004cwg.1 - FANCB_uc004cwh.1_Intron NM_001018113 NP_001018123 HUWE1 10075 broad.mit.edu 37 X 53578136 53578136 + Missense_Mutation SNP C A A 2011-2322:2012-352-T g.chrX:53578136C>A uc004dsp.2 - 65 9513 c.9111G>T c.(9109-9111)CAG>CAT p.Q3037H HUWE1_uc004dsn.2_Missense_Mutation_p.Q1845H NM_031407 NP_113584 FLG 2312 broad.mit.edu 37 1 152284329 152284329 + Missense_Mutation SNP C A A 2011-2323:2012-311-T g.chr1:152284329C>A uc001ezu.1 - 3 3069 c.3033G>T c.(3031-3033)GAG>GAT p.E1011D uc001ezv.2_5'Flank NM_002016 NP_002007 ADARB2 105 broad.mit.edu 37 10 1369649 1369649 + Intron SNP A T T 2011-2323:2012-311-T g.chr10:1369649A>T uc009xhq.2 - NM_018702 NP_061172 GPR123 84435 broad.mit.edu 37 10 134893356 134893356 + Intron SNP G A A 2011-2323:2012-311-T g.chr10:134893356G>A uc001llw.2 + CD248 57124 broad.mit.edu 37 11 66082692 66082692 + Missense_Mutation SNP C T T 2011-2323:2012-311-T g.chr11:66082692C>T uc001ohm.1 - 1 1824 c.1807G>A c.(1807-1809)GCC>ACC p.A603T NM_020404 NP_065137 KDM5A 5927 broad.mit.edu 37 12 498441 498441 + 5'UTR SNP C T T 2011-2323:2012-311-T g.chr12:498441C>T uc001qif.1 - 1 KDM5A_uc001qie.1_5'UTR|CCDC77_uc009zdk.2_5'Flank|CCDC77_uc010sdp.1_5'Flank|KDM5A_uc010sdn.1_5'UTR|KDM5A_uc010sdo.1_5'UTR NM_001042603 NP_001036068 GPC5 2262 broad.mit.edu 37 13 92377308 92377308 + Intron SNP G T T 2011-2323:2012-311-T g.chr13:92377308G>T uc010tif.1 + NM_004466 NP_004457 TPSD1 23430 broad.mit.edu 37 16 1304992 1304992 + 5'Flank SNP T C C 2011-2323:2012-311-T g.chr16:1304992T>C uc002clb.1 + TPSD1_uc010brm.1_5'Flank NM_012217 NP_036349 TP53 7157 broad.mit.edu 37 17 7578413 7578413 + Missense_Mutation SNP C T T 2011-2323:2012-311-T g.chr17:7578413C>T uc002gim.2 - 5 711 c.517G>A c.(517-519)GTG>ATG p.V173M TP53_uc002gig.1_Missense_Mutation_p.V173M|TP53_uc002gih.2_Missense_Mutation_p.V173M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V41M|TP53_uc010cng.1_Missense_Mutation_p.V41M|TP53_uc002gii.1_Missense_Mutation_p.V41M|TP53_uc010cnh.1_Missense_Mutation_p.V173M|TP53_uc010cni.1_Missense_Mutation_p.V173M|TP53_uc002gij.2_Missense_Mutation_p.V173M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V80M|TP53_uc002gio.2_Missense_Mutation_p.V41M|TP53_uc010vug.1_Missense_Mutation_p.V134M NM_001126112 NP_001119584 PQLC1 80148 broad.mit.edu 37 18 77680181 77680181 + Intron SNP A G G 2011-2323:2012-311-T g.chr18:77680181A>G uc002lnl.2 - PQLC1_uc010dre.2_Intron|PQLC1_uc002lnk.2_Intron|PQLC1_uc010xfm.1_Intron NM_025078 NP_079354 CD8A 925 broad.mit.edu 37 2 87018452 87018452 + 5'UTR SNP A G G rs6743139 byFrequency;by1000genomes 2011-2323:2012-311-T g.chr2:87018452A>G uc002srt.2 - 1 RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Intron|CD8A_uc010ytn.1_Intron|CD8A_uc002sru.2_5'UTR NM_001768 NP_001759 RMND5A 64795 broad.mit.edu 37 2 87719761 87719761 + Intron SNP C A A 2011-2323:2012-311-T g.chr2:87719761C>A uc002srs.3 + PCBP3 54039 broad.mit.edu 37 21 47235455 47235455 + Intron SNP A G G 2011-2323:2012-311-T g.chr21:47235455A>G uc010gqb.2 + NM_020528 NP_065389 CABIN1 23523 broad.mit.edu 37 22 24439425 24439425 + Silent SNP G T T 2011-2323:2012-311-T g.chr22:24439425G>T uc002zzi.1 + 6 532 c.405G>T c.(403-405)CTG>CTT p.L135L CABIN1_uc002zzj.1_Silent_p.L135L|CABIN1_uc002zzl.1_Silent_p.L135L|CABIN1_uc010guk.1_Silent_p.L90L|CABIN1_uc002zzk.1_Silent_p.L90L NM_012295 NP_036427 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45196775 45196775 + Intron SNP T C C 2011-2323:2012-311-T g.chr22:45196775T>C uc003bfd.2 + PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|ARHGAP8_uc003bfi.2_Intron|ARHGAP8_uc010gzv.2_Intron|ARHGAP8_uc003bfj.2_Intron|ARHGAP8_uc003bfk.2_Intron|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron NM_181335 NP_851852 SI 6476 broad.mit.edu 37 3 164777677 164777677 + Intron SNP T G G rs9290259 by1000genomes 2011-2323:2012-311-T g.chr3:164777677T>G uc003fei.2 - NM_001041 NP_001032 DSPP 1834 broad.mit.edu 37 4 88536953 88536953 + Missense_Mutation SNP G A A 2011-2323:2012-311-T g.chr4:88536953G>A uc003hqu.2 + 5 3259 c.3139G>A c.(3139-3141)GAT>AAT p.D1047N NM_014208 NP_055023 FAT1 2195 broad.mit.edu 37 4 187538231 187538231 + Silent SNP G A A 2011-2323:2012-311-T g.chr4:187538231G>A uc003izf.2 - 11 9191 c.9003C>T c.(9001-9003)GGC>GGT p.G3001G NM_005245 NP_005236 FAT1 2195 broad.mit.edu 37 4 187584670 187584670 + Silent SNP C T T 2011-2323:2012-311-T g.chr4:187584670C>T uc003izf.2 - 3 3551 c.3363G>A c.(3361-3363)TCG>TCA p.S1121S NM_005245 NP_005236 TAP1 6890 broad.mit.edu 37 6 32816866 32816866 + Silent SNP G A A 2011-2323:2012-311-T g.chr6:32816866G>A uc003ocg.2 - 6 1613 c.1458C>T c.(1456-1458)ATC>ATT p.I486I TAP1_uc011dqi.1_Silent_p.I225I NM_000593 NP_000584 PKHD1 5314 broad.mit.edu 37 6 51720652 51720652 + Intron SNP G A A 2011-2323:2012-311-T g.chr6:51720652G>A uc003pah.1 - PKHD1_uc010jzn.1_Intron|PKHD1_uc003pai.2_Intron NM_138694 NP_619639 EXOC4 60412 broad.mit.edu 37 7 133502210 133502210 + Silent SNP A G G 2011-2323:2012-311-T g.chr7:133502210A>G uc003vrk.2 + 11 1682 c.1647A>G c.(1645-1647)GAA>GAG p.E549E EXOC4_uc011kpo.1_Silent_p.E448E|EXOC4_uc003vrl.2_Silent_p.E159E|EXOC4_uc011kpp.1_Silent_p.E81E NM_021807 NP_068579 PTPRN2 5799 broad.mit.edu 37 7 157509700 157509700 + Intron SNP C T T rs71538050 2011-2323:2012-311-T g.chr7:157509700C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 CSMD3 114788 broad.mit.edu 37 8 113484907 113484907 + Nonsense_Mutation SNP C A A 2011-2323:2012-311-T g.chr8:113484907C>A uc003ynu.2 - 32 5467 c.5308G>T c.(5308-5310)GAA>TAA p.E1770* CSMD3_uc003yns.2_Nonsense_Mutation_p.E1042*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.E1730*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.E1666* NM_198123 NP_937756 TSC1 7248 broad.mit.edu 37 9 135772808 135772808 + Splice_Site SNP A T T rs118203736 2011-2323:2012-311-T g.chr9:135772808A>T uc004cca.2 - 21 3047 c.2813_splice c.e21+1 p.R938_splice TSC1_uc004ccb.3_Splice_Site_p.R937_splice|TSC1_uc011mcq.1_Splice_Site_p.R887_splice|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 QSOX2 169714 broad.mit.edu 37 9 139128761 139128761 + Intron SNP C A A 2011-2323:2012-311-T g.chr9:139128761C>A uc010nbi.2 - NM_181701 NP_859052 AGBL4 84871 broad.mit.edu 37 1 49843724 49843724 + Intron SNP C T T 2011-2324:2012-339-T g.chr1:49843724C>T uc001cru.2 - AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron NM_032785 NP_116174 SPAG17 200162 broad.mit.edu 37 1 118570897 118570897 + Missense_Mutation SNP C T T 2011-2324:2012-339-T g.chr1:118570897C>T uc001ehk.2 - 26 3798 c.3730G>A c.(3730-3732)GGT>AGT p.G1244S NM_206996 NP_996879 FLG 2312 broad.mit.edu 37 1 152284328 152284328 + Missense_Mutation SNP T C C 2011-2324:2012-339-T g.chr1:152284328T>C uc001ezu.1 - 3 3070 c.3034A>G c.(3034-3036)ACT>GCT p.T1012A uc001ezv.2_5'Flank NM_002016 NP_002007 ASH1L 55870 broad.mit.edu 37 1 155448058 155448058 + Missense_Mutation SNP G A A 2011-2324:2012-339-T g.chr1:155448058G>A uc009wqq.2 - 3 5083 c.4603C>T c.(4603-4605)CGT>TGT p.R1535C ASH1L_uc001fkt.2_Missense_Mutation_p.R1535C|ASH1L_uc009wqr.1_Missense_Mutation_p.R1535C NM_018489 NP_060959 ARHGAP30 257106 broad.mit.edu 37 1 161018256 161018256 + Missense_Mutation SNP C G G 2011-2324:2012-339-T g.chr1:161018256C>G uc001fxl.2 - 12 2901 c.2555G>C c.(2554-2556)GGA>GCA p.G852A USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Intron|ARHGAP30_uc001fxm.2_Missense_Mutation_p.G698A|ARHGAP30_uc009wtx.2_Missense_Mutation_p.G525A NM_001025598 NP_001020769 CNST 163882 broad.mit.edu 37 1 246783868 246783868 + Intron SNP G A A rs61852392 by1000genomes 2011-2324:2012-339-T g.chr1:246783868G>A uc001ibp.2 + CNST_uc001ibo.3_Intron NM_152609 NP_689822 CUBN 8029 broad.mit.edu 37 10 17171788 17171788 + 5'UTR SNP G A A 2011-2324:2012-339-T g.chr10:17171788G>A uc001ioo.2 - 1 NM_001081 NP_001072 MLLT10 8028 broad.mit.edu 37 10 22002793 22002793 + Nonsense_Mutation SNP C T T 2011-2324:2012-339-T g.chr10:22002793C>T uc001iqs.2 + 15 2188 c.1840C>T c.(1840-1842)CAG>TAG p.Q614* MLLT10_uc001iqt.2_Nonsense_Mutation_p.Q598*|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Nonsense_Mutation_p.Q598*|MLLT10_uc001ira.2_Nonsense_Mutation_p.Q55*|MLLT10_uc001irb.2_RNA NM_004641 NP_004632 GRK5 2869 broad.mit.edu 37 10 121187410 121187410 + Intron SNP C T T 2011-2324:2012-339-T g.chr10:121187410C>T uc001led.2 + GRK5_uc009xzh.2_Intron|GRK5_uc010qta.1_Intron NM_005308 NP_005299 VWA5A 4013 broad.mit.edu 37 11 124005764 124005764 + Intron SNP C T T 2011-2324:2012-339-T g.chr11:124005764C>T uc001pzu.2 + VWA5A_uc001pzt.2_Intron NM_001130142 NP_001123614 TRIP11 9321 broad.mit.edu 37 14 92473943 92473943 + Intron SNP T C C rs3818095 by1000genomes 2011-2324:2012-339-T g.chr14:92473943T>C uc001xzy.2 - TRIP11_uc010auf.1_Intron NM_004239 NP_004230 RAB40C 57799 broad.mit.edu 37 16 663136 663136 + Intron SNP C T T 2011-2324:2012-339-T g.chr16:663136C>T uc002chr.2 + RAB40C_uc002chq.2_Intron NM_021168 NP_066991 ABR 29 broad.mit.edu 37 17 970350 970350 + Silent SNP C T T 2011-2324:2012-339-T g.chr17:970350C>T uc002fsd.2 - 10 1259 c.1149G>A c.(1147-1149)AAG>AAA p.K383K ABR_uc002fse.2_Silent_p.K337K|ABR_uc010vqg.1_Silent_p.K165K|ABR_uc002fsg.2_Silent_p.K346K|ABR_uc002fsh.1_Silent_p.K267K NM_021962 NP_068781 LAMA1 284217 broad.mit.edu 37 18 6995453 6995453 + Intron SNP G A A 2011-2324:2012-339-T g.chr18:6995453G>A uc002knm.2 - LAMA1_uc010wzj.1_Intron NM_005559 NP_005550 ZNF521 25925 broad.mit.edu 37 18 22805224 22805224 + Silent SNP G A A 2011-2324:2012-339-T g.chr18:22805224G>A uc002kvk.2 - 4 2905 c.2658C>T c.(2656-2658)TAC>TAT p.Y886Y ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.Y886Y|ZNF521_uc002kvl.2_Silent_p.Y666Y NM_015461 NP_056276 PHLPP1 23239 broad.mit.edu 37 18 60570196 60570196 + Splice_Site SNP G A A 2011-2324:2012-339-T g.chr18:60570196G>A uc002lis.2 + 8 1087 c.909_splice c.e8-1 p.R303_splice NM_194449 NP_919431 MYO1F 4542 broad.mit.edu 37 19 8608745 8608745 + Intron SNP G A A 2011-2324:2012-339-T g.chr19:8608745G>A uc002mkg.2 - NM_012335 NP_036467 INPP4A 3631 broad.mit.edu 37 2 99152748 99152748 + Intron SNP C T T 2011-2324:2012-339-T g.chr2:99152748C>T uc002syy.2 + INPP4A_uc010yvj.1_Intron|INPP4A_uc010yvk.1_Intron|INPP4A_uc002syx.2_Intron|INPP4A_uc010fik.2_Intron NM_001134224 NP_001127696 AGXT 189 broad.mit.edu 37 2 241811840 241811840 + Intron SNP G C C rs62189566 2011-2324:2012-339-T g.chr2:241811840G>C uc002waa.3 + AGXT_uc010zoi.1_Intron NM_000030 NP_000021 BAGE2 85319 broad.mit.edu 37 21 11098884 11098884 + 5'UTR SNP C T T 2011-2324:2012-339-T g.chr21:11098884C>T uc002yit.1 - 1 BAGE_uc002yix.2_RNA NM_182482 NP_872288 EP300 2033 broad.mit.edu 37 22 41574962 41574962 + 3'UTR SNP G A A 2011-2324:2012-339-T g.chr22:41574962G>A uc003azl.3 + 31 NM_001429 NP_001420 SRGAP3 9901 broad.mit.edu 37 3 9055137 9055137 + Missense_Mutation SNP C T T 2011-2324:2012-339-T g.chr3:9055137C>T uc003brf.1 - 17 2678 c.2002G>A c.(2002-2004)GAT>AAT p.D668N SRGAP3_uc003brg.1_Missense_Mutation_p.D644N NM_014850 NP_055665 MST1R 4486 broad.mit.edu 37 3 49936815 49936815 + Intron SNP G C C 2011-2324:2012-339-T g.chr3:49936815G>C uc003cxy.3 - MST1R_uc011bdd.1_Intron|MST1R_uc011bde.1_Intron|MST1R_uc011bdf.1_Intron|MST1R_uc011bdg.1_Intron|MST1R_uc011bdc.1_5'Flank NM_002447 NP_002438 POLQ 10721 broad.mit.edu 37 3 121228422 121228422 + Missense_Mutation SNP G A A 2011-2324:2012-339-T g.chr3:121228422G>A uc003eee.3 - 12 2074 c.1945C>T c.(1945-1947)CAT>TAT p.H649Y NM_199420 NP_955452 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 2011-2324:2012-339-T g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 TP63 8626 broad.mit.edu 37 3 189585599 189585599 + Intron SNP G T T 2011-2324:2012-339-T g.chr3:189585599G>T uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsa.2_Intron|TP63_uc003fsb.2_Intron|TP63_uc003fsc.2_Intron|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Intron NM_003722 NP_003713 TP63 8626 broad.mit.edu 37 3 189585684 189585684 + Silent SNP G A A 2011-2324:2012-339-T g.chr3:189585684G>A uc003fry.2 + 7 1034 c.945G>A c.(943-945)GGG>GGA p.G315G TP63_uc003frx.2_Silent_p.G315G|TP63_uc003frz.2_Silent_p.G315G|TP63_uc010hzc.1_Silent_p.G315G|TP63_uc003fsa.2_Silent_p.G221G|TP63_uc003fsb.2_Silent_p.G221G|TP63_uc003fsc.2_Silent_p.G221G|TP63_uc003fsd.2_Silent_p.G221G|TP63_uc010hzd.1_Silent_p.G136G|TP63_uc003fse.1_Silent_p.G196G NM_003722 NP_003713 TP63 8626 broad.mit.edu 37 3 189586425 189586425 + Missense_Mutation SNP G A A 2011-2324:2012-339-T g.chr3:189586425G>A uc003fry.2 + 8 1138 c.1049G>A c.(1048-1050)AGA>AAA p.R350K TP63_uc003frx.2_Missense_Mutation_p.R350K|TP63_uc003frz.2_Missense_Mutation_p.R350K|TP63_uc010hzc.1_Missense_Mutation_p.R350K|TP63_uc003fsa.2_Missense_Mutation_p.R256K|TP63_uc003fsb.2_Missense_Mutation_p.R256K|TP63_uc003fsc.2_Missense_Mutation_p.R256K|TP63_uc003fsd.2_Missense_Mutation_p.R256K|TP63_uc010hzd.1_Missense_Mutation_p.R171K|TP63_uc003fse.1_Missense_Mutation_p.R231K NM_003722 NP_003713 TP63 8626 broad.mit.edu 37 3 189586513 189586513 + Intron SNP G C C 2011-2324:2012-339-T g.chr3:189586513G>C uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsa.2_Intron|TP63_uc003fsb.2_Intron|TP63_uc003fsc.2_Intron|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Intron NM_003722 NP_003713 TP63 8626 broad.mit.edu 37 3 189586616 189586616 + Intron SNP G A A 2011-2324:2012-339-T g.chr3:189586616G>A uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsa.2_Intron|TP63_uc003fsb.2_Intron|TP63_uc003fsc.2_Intron|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Intron NM_003722 NP_003713 TP63 8626 broad.mit.edu 37 3 189586644 189586644 + Intron SNP G A A 2011-2324:2012-339-T g.chr3:189586644G>A uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsa.2_Intron|TP63_uc003fsb.2_Intron|TP63_uc003fsc.2_Intron|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Intron NM_003722 NP_003713 TP63 8626 broad.mit.edu 37 3 189587156 189587156 + Silent SNP G A A 2011-2324:2012-339-T g.chr3:189587156G>A uc003fry.2 + 9 1262 c.1173G>A c.(1171-1173)AAG>AAA p.K391K TP63_uc003frx.2_Silent_p.K391K|TP63_uc003frz.2_Silent_p.K391K|TP63_uc010hzc.1_Silent_p.K391K|TP63_uc003fsa.2_Silent_p.K297K|TP63_uc003fsb.2_Silent_p.K297K|TP63_uc003fsc.2_Silent_p.K297K|TP63_uc003fsd.2_Silent_p.K297K|TP63_uc010hzd.1_Silent_p.K212K|TP63_uc003fse.1_Silent_p.K268K NM_003722 NP_003713 MUC4 4585 broad.mit.edu 37 3 195498049 195498049 + Intron SNP T C C 2011-2324:2012-339-T g.chr3:195498049T>C uc011bto.1 - MUC4_uc003fuz.2_Intron|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C G G rs121913483 2011-2324:2012-339-T g.chr4:1803568C>G uc003gdr.3 + 7 1002 c.746C>G c.(745-747)TCC>TGC p.S249C FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C NM_000142 NP_000133 PPP2R2C 5522 broad.mit.edu 37 4 6513600 6513600 + Intron SNP G A A 2011-2324:2012-339-T g.chr4:6513600G>A uc011bwd.1 - PPP2R2C_uc011bwe.1_Intron NM_181876 NP_870991 FBXW7 55294 broad.mit.edu 37 4 153249460 153249460 + Missense_Mutation SNP C T T 2011-2324:2012-339-T g.chr4:153249460C>T uc003ims.2 - 9 1467 c.1318G>A c.(1318-1320)GAT>AAT p.D440N FBXW7_uc011cii.1_Missense_Mutation_p.D440N|FBXW7_uc003imt.2_Missense_Mutation_p.D440N|FBXW7_uc011cih.1_Missense_Mutation_p.D264N|FBXW7_uc003imq.2_Missense_Mutation_p.D360N|FBXW7_uc003imr.2_Missense_Mutation_p.D322N NM_033632 NP_361014 FAT1 2195 broad.mit.edu 37 4 187525627 187525627 + Missense_Mutation SNP A C C 2011-2324:2012-339-T g.chr4:187525627A>C uc003izf.2 - 18 10640 c.10452T>G c.(10450-10452)AAT>AAG p.N3484K NM_005245 NP_005236 DNAH5 1767 broad.mit.edu 37 5 13766322 13766322 + Intron SNP G A A 2011-2324:2012-339-T g.chr5:13766322G>A uc003jfd.2 - DNAH5_uc003jfc.2_Intron NM_001369 NP_001360 CDH12 1010 broad.mit.edu 37 5 21783548 21783548 + Missense_Mutation SNP C T T 2011-2324:2012-339-T g.chr5:21783548C>T uc010iuc.2 - 8 1770 c.1312G>A c.(1312-1314)GAA>AAA p.E438K CDH12_uc011cno.1_Missense_Mutation_p.E398K|CDH12_uc003jgk.2_Missense_Mutation_p.E438K NM_004061 NP_004052 APC 324 broad.mit.edu 37 5 112101976 112101976 + Intron SNP G A A 2011-2324:2012-339-T g.chr5:112101976G>A uc010jby.2 + APC_uc011cvt.1_Intron|APC_uc003kpz.3_Intron|APC_uc003kpy.3_Intron|APC_uc010jbz.2_Intron NM_001127511 NP_001120983 APC 324 broad.mit.edu 37 5 112128244 112128244 + Intron SNP C T T 2011-2324:2012-339-T g.chr5:112128244C>T uc010jby.2 + APC_uc011cvt.1_Intron|APC_uc003kpz.3_Intron|APC_uc003kpy.3_Intron|APC_uc010jbz.2_Intron NM_001127511 NP_001120983 HLA-A 3105 broad.mit.edu 37 6 29912407 29912407 + Intron SNP G T T 2011-2324:2012-339-T g.chr6:29912407G>T uc003nol.2 + HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc003nok.2_Intron|HLA-A_uc003non.2_Silent_p.V342V|HLA-A_uc003noo.2_Intron|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_Intron|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_Intron|HLA-A_uc011dmd.1_Silent_p.V221V NM_002116 NP_002107 COQ3 51805 broad.mit.edu 37 6 99825333 99825333 + Missense_Mutation SNP G C C 2011-2324:2012-339-T g.chr6:99825333G>C uc003ppk.2 - 4 442 c.415C>G c.(415-417)CAC>GAC p.H139D NM_017421 NP_059117 SYNE1 23345 broad.mit.edu 37 6 152639250 152639250 + Missense_Mutation SNP C G G rs138745849 byFrequency 2011-2324:2012-339-T g.chr6:152639250C>G uc010kiw.2 - 86 17140 c.16538G>C c.(16537-16539)AGA>ACA p.R5513T SYNE1_uc010kiv.2_Missense_Mutation_p.R37T|SYNE1_uc003qos.3_Missense_Mutation_p.R37T|SYNE1_uc003qot.3_Missense_Mutation_p.R5442T|SYNE1_uc003qou.3_Missense_Mutation_p.R5513T|SYNE1_uc010kiz.2_Missense_Mutation_p.R1268T NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152949647 152949647 + 5'UTR SNP C G G 2011-2324:2012-339-T g.chr6:152949647C>G uc010kiw.2 - 3 SYNE1_uc003qot.3_5'UTR|SYNE1_uc003qou.3_5'UTR|SYNE1_uc010kjb.1_5'UTR|SYNE1_uc003qpa.1_5'UTR NM_182961 NP_892006 TRRAP 8295 broad.mit.edu 37 7 98565130 98565130 + Missense_Mutation SNP G A A 2011-2324:2012-339-T g.chr7:98565130G>A uc003upp.2 + 50 7509 c.7300G>A c.(7300-7302)GAG>AAG p.E2434K TRRAP_uc011kis.1_Missense_Mutation_p.E2416K|TRRAP_uc003upr.2_Missense_Mutation_p.E2133K NM_003496 NP_003487 LAMB1 3912 broad.mit.edu 37 7 107644050 107644050 + 5'Flank SNP G C C 2011-2324:2012-339-T g.chr7:107644050G>C uc003vew.2 - LAMB1_uc003vev.2_5'Flank|LAMB1_uc003vex.2_5'Flank|LAMB1_uc010ljn.1_5'Flank NM_002291 NP_002282 CSMD3 114788 broad.mit.edu 37 8 113316921 113316921 + Intron SNP G A A 2011-2324:2012-339-T g.chr8:113316921G>A uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 MYC 4609 broad.mit.edu 37 8 128752671 128752671 + Missense_Mutation SNP G C C 2011-2324:2012-339-T g.chr8:128752671G>C uc003ysi.2 + 3 1357 c.832G>C c.(832-834)GAT>CAT p.D278H NM_002467 NP_002458 EHMT1 79813 broad.mit.edu 37 9 140619542 140619542 + Intron SNP G A A 2011-2324:2012-339-T g.chr9:140619542G>A uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 PPP2R3B 28227 broad.mit.edu 37 X 324356 324356 + Intron SNP T C C 2011-2324:2012-339-T g.chrX:324356T>C uc004cpg.2 - PPP2R3B_uc011mha.1_Intron NM_013239 NP_037371 ODZ1 10178 broad.mit.edu 37 X 124098068 124098068 + 5'Flank SNP G C C 2011-2324:2012-339-T g.chrX:124098068G>C uc004euj.2 - ODZ1_uc011muj.1_5'Flank|ODZ1_uc010nqy.2_5'Flank NM_014253 NP_055068 ODZ1 10178 broad.mit.edu 37 X 124098176 124098176 + 5'Flank SNP G C C 2011-2324:2012-339-T g.chrX:124098176G>C uc004euj.2 - ODZ1_uc011muj.1_5'Flank|ODZ1_uc010nqy.2_5'Flank NM_014253 NP_055068 DDR2 4921 broad.mit.edu 37 1 162724571 162724571 + Missense_Mutation SNP G T T 2011-2325:2012-337-T g.chr1:162724571G>T uc001gcf.2 + 6 808 c.343G>T c.(343-345)GCC>TCC p.A115S DDR2_uc001gcg.2_Missense_Mutation_p.A115S NM_001014796 NP_001014796 PCDH15 65217 broad.mit.edu 37 10 55591121 55591121 + Missense_Mutation SNP G T T 2011-2325:2012-337-T g.chr10:55591121G>T uc001jju.1 - 30 4551 c.4156C>A c.(4156-4158)CTC>ATC p.L1386I PCDH15_uc010qhq.1_Missense_Mutation_p.L1391I|PCDH15_uc010qhr.1_Missense_Mutation_p.L1386I|PCDH15_uc010qhs.1_Missense_Mutation_p.L1398I|PCDH15_uc010qht.1_Missense_Mutation_p.L1393I|PCDH15_uc010qhu.1_Missense_Mutation_p.L1386I|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.L1386I|PCDH15_uc010qhw.1_Missense_Mutation_p.L1349I|PCDH15_uc010qhx.1_Missense_Mutation_p.L1315I|PCDH15_uc010qhy.1_Missense_Mutation_p.L1391I|PCDH15_uc010qhz.1_Missense_Mutation_p.L1386I|PCDH15_uc010qia.1_Missense_Mutation_p.L1364I|PCDH15_uc010qib.1_Missense_Mutation_p.L1364I NM_033056 NP_149045 BIRC3 330 broad.mit.edu 37 11 102207851 102207851 + 3'UTR SNP G A A rs1055088 by1000genomes 2011-2325:2012-337-T g.chr11:102207851G>A uc001pgx.2 + 10 NM_182962 NP_892007 B3GAT1 27087 broad.mit.edu 37 11 134278409 134278410 + Intron DNP CC GT GT 2011-2325:2012-337-T g.chr11:134278409_134278410CC>GT uc001qhq.2 - B3GAT1_uc001qhr.2_Intron NM_018644 NP_061114 TSPAN9 10867 broad.mit.edu 37 12 3308054 3308054 + Intron SNP T C C rs61917910 by1000genomes 2011-2325:2012-337-T g.chr12:3308054T>C uc001qlp.2 + NM_006675 NP_006666 PIK3C2G 5288 broad.mit.edu 37 12 18435469 18435469 + Missense_Mutation SNP G T T 2011-2325:2012-337-T g.chr12:18435469G>T uc001rdt.2 + 2 570 c.454G>T c.(454-456)GAT>TAT p.D152Y PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.D152Y|PIK3C2G_uc010sic.1_5'UTR NM_004570 NP_004561 PDE3A 5139 broad.mit.edu 37 12 20774290 20774290 + Silent SNP A G G 2011-2325:2012-337-T g.chr12:20774290A>G uc001reh.1 + 5 1507 c.1485A>G c.(1483-1485)TCA>TCG p.S495S NM_000921 NP_000912 RPLP1 6176 broad.mit.edu 37 15 69745444 69745444 + Intron SNP C T T 2011-2325:2012-337-T g.chr15:69745444C>T uc002asd.1 + RPLP1_uc002ase.1_Intron NM_001003 NP_000994 LMF1 64788 broad.mit.edu 37 16 907446 907446 + Intron SNP G A A 2011-2325:2012-337-T g.chr16:907446G>A uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 TP53 7157 broad.mit.edu 37 17 7577575 7577575 + Missense_Mutation SNP A G G 2011-2325:2012-337-T g.chr17:7577575A>G uc002gim.2 - 7 900 c.706T>C c.(706-708)TAC>CAC p.Y236H TP53_uc002gig.1_Missense_Mutation_p.Y236H|TP53_uc002gih.2_Missense_Mutation_p.Y236H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y104H|TP53_uc010cng.1_Missense_Mutation_p.Y104H|TP53_uc002gii.1_Missense_Mutation_p.Y104H|TP53_uc010cnh.1_Missense_Mutation_p.Y236H|TP53_uc010cni.1_Missense_Mutation_p.Y236H|TP53_uc002gij.2_Missense_Mutation_p.Y236H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y143H|TP53_uc002gio.2_Missense_Mutation_p.Y104H NM_001126112 NP_001119584 MYH13 8735 broad.mit.edu 37 17 10227504 10227504 + Silent SNP G C C 2011-2325:2012-337-T g.chr17:10227504G>C uc002gmk.1 - 23 2859 c.2769C>G c.(2767-2769)GTC>GTG p.V923V MYH13_uc010vve.1_Silent_p.V21V NM_003802 NP_003793 AATK 9625 broad.mit.edu 37 17 79114703 79114703 + Intron SNP G A A 2011-2325:2012-337-T g.chr17:79114703G>A uc010dia.2 - NM_001080395 NP_001073864 KEAP1 9817 broad.mit.edu 37 19 10602926 10602926 + Missense_Mutation SNP C G G 2011-2325:2012-337-T g.chr19:10602926C>G uc002moq.1 - 3 808 c.652G>C c.(652-654)GAG>CAG p.E218Q KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.E218Q NM_012289 NP_036421 ATIC 471 broad.mit.edu 37 2 216209519 216209519 + Silent SNP C T T 2011-2325:2012-337-T g.chr2:216209519C>T uc002vex.3 + 13 1419 c.1245C>T c.(1243-1245)CTC>CTT p.L415L ATIC_uc010zjo.1_Silent_p.L356L|ATIC_uc002vey.3_Silent_p.L414L NM_004044 NP_004035 CUL3 8452 broad.mit.edu 37 2 225378243 225378243 + Nonsense_Mutation SNP G A A 2011-2325:2012-337-T g.chr2:225378243G>A uc002vny.2 - 5 1036 c.652C>T c.(652-654)CAG>TAG p.Q218* CUL3_uc010zls.1_Nonsense_Mutation_p.Q152*|CUL3_uc010fwy.1_Nonsense_Mutation_p.Q224* NM_003590 NP_003581 DNAH5 1767 broad.mit.edu 37 5 13751282 13751282 + Nonsense_Mutation SNP C A A 2011-2325:2012-337-T g.chr5:13751282C>A uc003jfd.2 - 65 11158 c.11116G>T c.(11116-11118)GAG>TAG p.E3706* DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 SCML4 256380 broad.mit.edu 37 6 108103903 108103903 + Intron SNP C G G 2011-2325:2012-337-T g.chr6:108103903C>G uc010kdf.2 - SCML4_uc003prz.3_Intron|SCML4_uc011eam.1_Intron NM_198081 NP_932347 SYNE1 23345 broad.mit.edu 37 6 152697958 152697958 + Silent SNP C T T 2011-2325:2012-337-T g.chr6:152697958C>T uc010kiw.2 - 57 9701 c.9099G>A c.(9097-9099)CTG>CTA p.L3033L SYNE1_uc003qot.3_Silent_p.L3040L|SYNE1_uc003qou.3_Silent_p.L3033L|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Silent_p.L111L|SYNE1_uc010kjb.1_Silent_p.L3016L NM_182961 NP_892006 KIAA1549 57670 broad.mit.edu 37 7 138602271 138602271 + Missense_Mutation SNP C T T 2011-2325:2012-337-T g.chr7:138602271C>T uc011kql.1 - 2 2150 c.2101G>A c.(2101-2103)GAG>AAG p.E701K KIAA1549_uc003vuk.3_Missense_Mutation_p.E651K|KIAA1549_uc011kqj.1_Missense_Mutation_p.E701K NM_020910 NP_065961 PKHD1L1 93035 broad.mit.edu 37 8 110466385 110466385 + Intron SNP A G G 2011-2325:2012-337-T g.chr8:110466385A>G uc003yne.2 + NM_177531 NP_803875 NOTCH1 4851 broad.mit.edu 37 9 139412829 139412829 + Intron SNP A G G rs116547005 by1000genomes 2011-2325:2012-337-T g.chr9:139412829A>G uc004chz.2 - NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139417333 139417333 + Silent SNP G A A rs61751557 byFrequency;by1000genomes 2011-2325:2012-337-T g.chr9:139417333G>A uc004chz.2 - 4 711 c.711C>T c.(709-711)GGC>GGT p.G237G NM_017617 NP_060087 EPHA2 1969 broad.mit.edu 37 1 16482976 16482976 + 5'Flank SNP A G G rs6603883 by1000genomes 2011-2326:2012-336-T g.chr1:16482976A>G uc001aya.1 - EPHA2_uc010oca.1_5'Flank NM_004431 NP_004422 YY1AP1 55249 broad.mit.edu 37 1 155658085 155658085 + Intron SNP T C C rs2666826 by1000genomes 2011-2326:2012-336-T g.chr1:155658085T>C uc001fln.2 - YY1AP1_uc010pgi.1_Silent_p.E57E|YY1AP1_uc001flh.2_Silent_p.E57E|YY1AP1_uc009wqt.2_5'UTR|YY1AP1_uc001flk.2_Intron|YY1AP1_uc001fll.2_Intron|YY1AP1_uc009wqv.2_Intron|YY1AP1_uc001flm.2_Intron|YY1AP1_uc001fli.2_Intron|YY1AP1_uc009wqu.2_Intron|YY1AP1_uc001flj.2_Intron|YY1AP1_uc009wqw.2_Intron|YY1AP1_uc001flo.2_Intron|YY1AP1_uc001flp.2_Intron|YY1AP1_uc010pgj.1_Intron|YY1AP1_uc009wqx.2_Silent_p.E57E|YY1AP1_uc010pgk.1_Silent_p.E57E|DAP3_uc001flq.2_5'Flank|DAP3_uc001flr.2_5'Flank|DAP3_uc001fls.2_5'Flank|DAP3_uc010pgl.1_5'Flank|DAP3_uc001flt.2_5'Flank|DAP3_uc001flu.2_5'Flank|DAP3_uc010pgm.1_5'Flank NM_139118 NP_620829 DIP2C 22982 broad.mit.edu 37 10 463840 463840 + Intron SNP G C C 2011-2326:2012-336-T g.chr10:463840G>C uc001ifp.2 - NM_014974 NP_055789 GRK5 2869 broad.mit.edu 37 10 121051603 121051603 + Intron SNP T C C 2011-2326:2012-336-T g.chr10:121051603T>C uc001led.2 + GRK5_uc009xzh.2_Intron|GRK5_uc010qta.1_Intron NM_005308 NP_005299 F7 2155 broad.mit.edu 37 13 113762696 113762696 + Intron SNP T A A 2011-2326:2012-336-T g.chr13:113762696T>A uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 DSEL 92126 broad.mit.edu 37 18 65178690 65178690 + Missense_Mutation SNP C G G 2011-2326:2012-336-T g.chr18:65178690C>G uc002lke.1 - 2 4410 c.3186G>C c.(3184-3186)AAG>AAC p.K1062N NM_032160 NP_115536 PKP4 8502 broad.mit.edu 37 2 159477576 159477576 + Missense_Mutation SNP G C C rs145967976 2011-2326:2012-336-T g.chr2:159477576G>C uc002tzv.2 + 5 615 c.355G>C c.(355-357)GAG>CAG p.E119Q PKP4_uc002tzt.1_5'UTR|PKP4_uc002tzu.2_Missense_Mutation_p.E119Q|PKP4_uc002tzw.2_Missense_Mutation_p.E119Q|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.E119Q|PKP4_uc002uaa.2_5'UTR NM_003628 NP_003619 MUC4 4585 broad.mit.edu 37 3 195498270 195498270 + Intron SNP G A A 2011-2326:2012-336-T g.chr3:195498270G>A uc011bto.1 - MUC4_uc003fuz.2_Intron|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 YTHDC1 91746 broad.mit.edu 37 4 69202693 69202693 + Intron SNP G A A 2011-2326:2012-336-T g.chr4:69202693G>A uc003hdx.2 - YTHDC1_uc003hdy.2_Intron NM_001031732 NP_001026902 FBXW7 55294 broad.mit.edu 37 4 153456102 153456102 + 5'UTR SNP A G G rs1351903 by1000genomes 2011-2326:2012-336-T g.chr4:153456102A>G uc003ims.2 - 1 FBXW7_uc011cii.1_5'UTR|FBXW7_uc003imt.2_5'UTR|FBXW7_uc003imu.2_5'UTR|uc003imv.2_5'Flank NM_033632 NP_361014 TAP1 6890 broad.mit.edu 37 6 32820471 32820471 + Intron SNP A T T 2011-2326:2012-336-T g.chr6:32820471A>T uc003ocg.2 - TAP1_uc011dqi.1_5'UTR|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank NM_000593 NP_000584 PKHD1L1 93035 broad.mit.edu 37 8 110374459 110374459 + 5'Flank SNP G A A 2011-2326:2012-336-T g.chr8:110374459G>A uc003yne.2 + NM_177531 NP_803875 CSMD3 114788 broad.mit.edu 37 8 113331251 113331251 + Intron SNP G T T 2011-2326:2012-336-T g.chr8:113331251G>T uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron|CSMD3_uc003ynw.1_Intron NM_198123 NP_937756 PPP2R3B 28227 broad.mit.edu 37 X 323960 323960 + Intron SNP C T T 2011-2326:2012-336-T g.chrX:323960C>T uc004cpg.2 - PPP2R3B_uc011mha.1_Intron NM_013239 NP_037371 PRDM16 63976 broad.mit.edu 37 1 3300470 3300470 + Intron SNP C T T 2011-2327:2012-308-T g.chr1:3300470C>T uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 PDE4DIP 9659 broad.mit.edu 37 1 144867951 144867951 + Missense_Mutation SNP A T T 2011-2327:2012-308-T g.chr1:144867951A>T uc001elw.3 - 33 5779 c.5488T>A c.(5488-5490)TCT>ACT p.S1830T NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.S1724T|PDE4DIP_uc001elv.3_Missense_Mutation_p.S837T|PDE4DIP_uc001ema.2_Missense_Mutation_p.S17T NM_014644 NP_055459 FLG 2312 broad.mit.edu 37 1 152278679 152278679 + Missense_Mutation SNP T C C 2011-2327:2012-308-T g.chr1:152278679T>C uc001ezu.1 - 3 8719 c.8683A>G c.(8683-8685)AGT>GGT p.S2895G NM_002016 NP_002007 FLG 2312 broad.mit.edu 37 1 152279015 152279015 + Missense_Mutation SNP G T T 2011-2327:2012-308-T g.chr1:152279015G>T uc001ezu.1 - 3 8383 c.8347C>A c.(8347-8349)CAG>AAG p.Q2783K NM_002016 NP_002007 SMYD3 64754 broad.mit.edu 37 1 246137744 246137744 + Intron SNP C A A 2011-2327:2012-308-T g.chr1:246137744C>A uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 CUBN 8029 broad.mit.edu 37 10 16967704 16967704 + Missense_Mutation SNP G A A rs146692241 2011-2327:2012-308-T g.chr10:16967704G>A uc001ioo.2 - 42 6393 c.6341C>T c.(6340-6342)TCC>TTC p.S2114F NM_001081 NP_001072 LHPP 64077 broad.mit.edu 37 10 126196246 126196246 + Intron SNP A G G 2011-2327:2012-308-T g.chr10:126196246A>G uc001lhs.1 + LHPP_uc001lht.1_Intron|LHPP_uc009yai.1_Intron NM_022126 NP_071409 LRRK2 120892 broad.mit.edu 37 12 40689222 40689222 + Intron SNP A T T 2011-2327:2012-308-T g.chr12:40689222A>T uc001rmg.3 + LRRK2_uc001rmh.1_Intron|LRRK2_uc009zjw.2_5'Flank NM_198578 NP_940980 TMEM132D 121256 broad.mit.edu 37 12 129559029 129559029 + Missense_Mutation SNP G T T 2011-2327:2012-308-T g.chr12:129559029G>T uc009zyl.1 - 9 3019 c.2691C>A c.(2689-2691)AGC>AGA p.S897R TMEM132D_uc001uia.2_Missense_Mutation_p.S435R NM_133448 NP_597705 TMEM132D 121256 broad.mit.edu 37 12 130232169 130232169 + Intron SNP A G G 2011-2327:2012-308-T g.chr12:130232169A>G uc009zyl.1 - NM_133448 NP_597705 SYNE2 23224 broad.mit.edu 37 14 64629007 64629007 + Intron SNP C T T 2011-2327:2012-308-T g.chr14:64629007C>T uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc001xgp.2_Missense_Mutation_p.P167S|SYNE2_uc010aqa.2_Intron NM_015180 NP_055995 LMF1 64788 broad.mit.edu 37 16 1000709 1000709 + Intron SNP T C C 2011-2327:2012-308-T g.chr16:1000709T>C uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 CORO7 79585 broad.mit.edu 37 16 4394498 4394498 + Intron SNP T C C 2011-2327:2012-308-T g.chr16:4394498T>C uc002cwf.2 - CORO7_uc002cwe.2_Intron|TIMM16_uc002cwd.2_Intron NM_024535 NP_078811 FANCA 2175 broad.mit.edu 37 16 89846440 89846440 + Intron SNP T A A 2011-2327:2012-308-T g.chr16:89846440T>A uc002fou.1 - FANCA_uc010vpn.1_Intron NM_000135 NP_000126 TP53 7157 broad.mit.edu 37 17 7578175 7578175 + Splice_Site SNP A T T 2011-2327:2012-308-T g.chr17:7578175A>T uc002gim.2 - 6 866 c.672_splice c.e6+1 p.E224_splice TP53_uc002gig.1_Splice_Site_p.E224_splice|TP53_uc002gih.2_Splice_Site_p.E224_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.E92_splice|TP53_uc010cng.1_Splice_Site_p.E92_splice|TP53_uc002gii.1_Splice_Site_p.E92_splice|TP53_uc010cnh.1_Splice_Site_p.E224_splice|TP53_uc010cni.1_Splice_Site_p.E224_splice|TP53_uc002gij.2_Splice_Site_p.E224_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.E131_splice|TP53_uc002gio.2_Splice_Site_p.E92_splice|TP53_uc010vug.1_Missense_Mutation_p.V186D NM_001126112 NP_001119584 MED16 10025 broad.mit.edu 37 19 879241 879241 + Intron SNP T C C 2011-2327:2012-308-T g.chr19:879241T>C uc002lqd.1 - MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Intron|MED16_uc002lqf.2_Intron|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron NM_005481 NP_005472 NOTCH3 4854 broad.mit.edu 37 19 15297872 15297872 + Intron SNP T C C 2011-2327:2012-308-T g.chr19:15297872T>C uc002nan.2 - NOTCH3_uc002nao.1_Intron NM_000435 NP_000426 ZNF571 51276 broad.mit.edu 37 19 38056057 38056057 + Nonsense_Mutation SNP C A A 2011-2327:2012-308-T g.chr19:38056057C>A uc002ogt.2 - 4 1374 c.1273G>T c.(1273-1275)GGA>TGA p.G425* uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Nonsense_Mutation_p.G425* NM_016536 NP_057620 ZNF534 147658 broad.mit.edu 37 19 52942380 52942380 + Missense_Mutation SNP G T T 2011-2327:2012-308-T g.chr19:52942380G>T uc002pzk.2 + 4 1767 c.1706G>T c.(1705-1707)GGC>GTC p.G569V ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.G556V NM_001143939 NP_001137411 ZNF544 27300 broad.mit.edu 37 19 58769924 58769924 + Intron SNP G C C rs72165178 2011-2327:2012-308-T g.chr19:58769924G>C uc010euo.2 + ZNF544_uc010eun.1_Intron|ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Intron|ZNF544_uc010yhy.1_Intron|ZNF544_uc002qrt.3_Intron|ZNF544_uc002qru.3_Intron|uc002qrx.1_RNA NM_014480 NP_055295 RMND5A 64795 broad.mit.edu 37 2 87623097 87623097 + Intron SNP G A A rs144435737 2011-2327:2012-308-T g.chr2:87623097G>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87633651 87633651 + Intron SNP C A A 2011-2327:2012-308-T g.chr2:87633651C>A uc002srs.3 + LRP1B 53353 broad.mit.edu 37 2 141598662 141598662 + Splice_Site SNP C A A 2011-2327:2012-308-T g.chr2:141598662C>A uc002tvj.1 - 30 5912 c.4940_splice c.e30-1 p.D1647_splice NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141739620 141739620 + Intron SNP C G G 2011-2327:2012-308-T g.chr2:141739620C>G uc002tvj.1 - LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 TTN 7273 broad.mit.edu 37 2 179435703 179435703 + Silent SNP A G G 2011-2327:2012-308-T g.chr2:179435703A>G uc010zfg.1 - 275 67676 c.67452T>C c.(67450-67452)CGT>CGC p.R22484R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R16179R|TTN_uc010zfi.1_Silent_p.R16112R|TTN_uc010zfj.1_Silent_p.R15987R NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179583174 179583174 + Missense_Mutation SNP G A A 2011-2327:2012-308-T g.chr2:179583174G>A uc010zfg.1 - 82 21151 c.20927C>T c.(20926-20928)ACT>ATT p.T6976I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T3637I NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179610748 179610748 + Missense_Mutation SNP C G G 2011-2327:2012-308-T g.chr2:179610748C>G uc002unb.2 - 46 16603 c.16379G>C c.(16378-16380)GGA>GCA p.G5460A TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 PROKR2 128674 broad.mit.edu 37 20 5295056 5295056 + 5'Flank SNP G A A 2011-2327:2012-308-T g.chr20:5295056G>A uc010zqw.1 - PROKR2_uc010zqx.1_5'UTR|PROKR2_uc010zqy.1_Intron|uc002wly.1_5'Flank NM_144773 NP_658986 PAK7 57144 broad.mit.edu 37 20 9519933 9519933 + 3'UTR SNP C T T 2011-2327:2012-308-T g.chr20:9519933C>T uc002wnl.2 - 11 PAK7_uc002wnk.2_3'UTR|PAK7_uc002wnj.2_3'UTR|PAK7_uc010gby.1_3'UTR NM_020341 NP_065074 C20orf26 26074 broad.mit.edu 37 20 20336950 20336950 + Intron SNP G T T rs73607409 2011-2327:2012-308-T g.chr20:20336950G>T uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 CDH4 1002 broad.mit.edu 37 20 59981872 59981872 + Intron SNP C G G 2011-2327:2012-308-T g.chr20:59981872C>G uc002ybn.1 + NM_001794 NP_001785 EP300 2033 broad.mit.edu 37 22 41565564 41565564 + Missense_Mutation SNP G T T 2011-2327:2012-308-T g.chr22:41565564G>T uc003azl.3 + 26 4625 c.4230G>T c.(4228-4230)AGG>AGT p.R1410S NM_001429 NP_001420 FANCD2 2177 broad.mit.edu 37 3 10074717 10074717 + Intron SNP G T T 2011-2327:2012-308-T g.chr3:10074717G>T uc003buw.2 + FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc003buv.2_Intron NM_033084 NP_149075 MST1R 4486 broad.mit.edu 37 3 49940942 49940942 + Missense_Mutation SNP T G G 2011-2327:2012-308-T g.chr3:49940942T>G uc003cxy.3 - 1 365 c.101A>C c.(100-102)TAC>TCC p.Y34S MST1R_uc011bdd.1_Missense_Mutation_p.Y34S|MST1R_uc011bde.1_Missense_Mutation_p.Y34S|MST1R_uc011bdf.1_Missense_Mutation_p.Y34S|MST1R_uc011bdg.1_Missense_Mutation_p.Y34S NM_002447 NP_002438 PIK3CA 5290 broad.mit.edu 37 3 178942530 178942530 + Silent SNP G C C 2011-2327:2012-308-T g.chr3:178942530G>C uc003fjk.2 + 16 2494 c.2337G>C c.(2335-2337)CTG>CTC p.L779L NM_006218 NP_006209 DNAH5 1767 broad.mit.edu 37 5 13777533 13777533 + Intron SNP C G G 2011-2327:2012-308-T g.chr5:13777533C>G uc003jfd.2 - NM_001369 NP_001360 FLT4 2324 broad.mit.edu 37 5 180041275 180041275 + Intron SNP G A A rs57233361 2011-2327:2012-308-T g.chr5:180041275G>A uc003mma.3 - FLT4_uc003mlz.3_Intron NM_002020 NP_002011 SYNE1 23345 broad.mit.edu 37 6 152784472 152784472 + Intron SNP G T T 2011-2327:2012-308-T g.chr6:152784472G>T uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qpa.1_Intron|SYNE1_uc003qow.2_5'Flank|SYNE1_uc003qox.1_Intron|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Intron NM_182961 NP_892006 MAD1L1 8379 broad.mit.edu 37 7 2116543 2116543 + Intron SNP G A A 2011-2327:2012-308-T g.chr7:2116543G>A uc003slh.1 - MAD1L1_uc003sle.1_Intron|MAD1L1_uc003slf.1_Intron|MAD1L1_uc003slg.1_Intron|MAD1L1_uc010ksh.1_Intron|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Intron|MAD1L1_uc010ksj.2_Intron NM_001013836 NP_001013858 PCLO 27445 broad.mit.edu 37 7 82389945 82389945 + Intron SNP A G G 2011-2327:2012-308-T g.chr7:82389945A>G uc003uhx.2 - NM_033026 NP_149015 RELN 5649 broad.mit.edu 37 7 103185675 103185675 + Missense_Mutation SNP C T T 2011-2327:2012-308-T g.chr7:103185675C>T uc003vca.2 - 42 6579 c.6419G>A c.(6418-6420)GGG>GAG p.G2140E RELN_uc010liz.2_Missense_Mutation_p.G2140E NM_005045 NP_005036 PIK3CG 5294 broad.mit.edu 37 7 106523506 106523506 + Silent SNP G T T 2011-2327:2012-308-T g.chr7:106523506G>T uc003vdv.3 + 8 2743 c.2658G>T c.(2656-2658)ACG>ACT p.T886T PIK3CG_uc003vdu.2_Silent_p.T886T|PIK3CG_uc003vdw.2_Silent_p.T886T NM_002649 NP_002640 CHRM2 1129 broad.mit.edu 37 7 136658007 136658007 + Intron SNP T C C 2011-2327:2012-308-T g.chr7:136658007T>C uc003vtf.1 + CHRM2_uc003vtg.1_Intron|CHRM2_uc003vtj.1_Intron|CHRM2_uc003vtk.1_Intron|CHRM2_uc003vtl.1_Intron|CHRM2_uc003vtm.1_Intron|CHRM2_uc003vti.1_Intron|CHRM2_uc003vto.1_Intron|CHRM2_uc003vtn.1_Intron|uc003vtp.1_Intron NM_001006630 NP_001006631 CNTNAP2 26047 broad.mit.edu 37 7 147183074 147183074 + Nonsense_Mutation SNP G A A 2011-2327:2012-308-T g.chr7:147183074G>A uc003weu.1 + 11 2234 c.1718G>A c.(1717-1719)TGG>TAG p.W573* NM_014141 NP_054860 CNTNAP2 26047 broad.mit.edu 37 7 147600763 147600763 + Missense_Mutation SNP C A A 2011-2327:2012-308-T g.chr7:147600763C>A uc003weu.1 + 14 2721 c.2205C>A c.(2203-2205)AAC>AAA p.N735K NM_014141 NP_054860 PTPRN2 5799 broad.mit.edu 37 7 157509362 157509362 + Intron SNP A T T 2011-2327:2012-308-T g.chr7:157509362A>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 CSMD3 114788 broad.mit.edu 37 8 113420573 113420573 + Missense_Mutation SNP G A A 2011-2327:2012-308-T g.chr8:113420573G>A uc003ynu.2 - 34 5738 c.5579C>T c.(5578-5580)GCT>GTT p.A1860V CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Missense_Mutation_p.A1820V|CSMD3_uc011lhx.1_Missense_Mutation_p.A1756V NM_198123 NP_937756 FAM135B 51059 broad.mit.edu 37 8 139263183 139263183 + Missense_Mutation SNP A T T 2011-2327:2012-308-T g.chr8:139263183A>T uc003yuy.2 - 6 614 c.443T>A c.(442-444)CTG>CAG p.L148Q FAM135B_uc003yux.2_Missense_Mutation_p.L49Q|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 ARHGAP39 80728 broad.mit.edu 37 8 145787688 145787688 + Intron SNP G A A 2011-2327:2012-308-T g.chr8:145787688G>A uc003zdt.1 - ARHGAP39_uc011llk.1_Intron|ARHGAP39_uc003zds.1_Intron NM_025251 NP_079527 CDKN2A 1029 broad.mit.edu 37 9 21971153 21971154 + Nonsense_Mutation DNP CC AA AA rs121913383 2011-2327:2012-308-T g.chr9:21971153_21971154CC>AA uc003zpk.2 - 2 416_417 c.204_205GG>TT c.(202-207)GCGGAG>GCTTAG p.E69* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G124L NM_000077 NP_000068 GOLGA1 2800 broad.mit.edu 37 9 127657380 127657380 + Intron SNP A C C 2011-2327:2012-308-T g.chr9:127657380A>C uc004bpc.2 - GOLGA1_uc010mws.2_Intron NM_002077 NP_002068 TSC1 7248 broad.mit.edu 37 9 135787534 135787534 + Intron SNP C A A 2011-2327:2012-308-T g.chr9:135787534C>A uc004cca.2 - TSC1_uc004ccb.3_Intron|TSC1_uc011mcq.1_Intron|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Intron|TSC1_uc004ccc.1_Intron|TSC1_uc004ccd.2_Intron|TSC1_uc004cce.1_Intron NM_000368 NP_000359 CAMSAP1 157922 broad.mit.edu 37 9 138728096 138728096 + Intron SNP C T T 2011-2327:2012-308-T g.chr9:138728096C>T uc004cgr.3 - CAMSAP1_uc004cgq.3_Intron|CAMSAP1_uc010nbg.2_Intron NM_015447 NP_056262 EHMT1 79813 broad.mit.edu 37 9 140617535 140617535 + Intron SNP T C C 2011-2327:2012-308-T g.chr9:140617535T>C uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 CELF2 10659 broad.mit.edu 37 10 11326139 11326139 + Intron SNP A G G 2011-2328:2012-1336-T g.chr10:11326139A>G uc001iki.3 + CELF2_uc010qbi.1_Intron|CELF2_uc010qbj.1_Intron|CELF2_uc001ikk.2_Intron|CELF2_uc001ikl.3_Intron|CELF2_uc010qbk.1_Intron|CELF2_uc010qbl.1_Intron|CELF2_uc010qbm.1_Intron|CELF2_uc001iko.3_Intron|CELF2_uc001ikp.3_Intron|CELF2_uc010qbn.1_Intron|CELF2_uc010qbo.1_Intron|CELF2_uc010qbp.1_Intron NM_001025077 NP_001020248 ANXA8 653145 broad.mit.edu 37 10 47059111 47059111 + Intron SNP A T T 2011-2328:2012-1336-T g.chr10:47059111A>T uc001jed.3 - ANXA8 653145 broad.mit.edu 37 10 47059148 47059148 + Intron SNP A G G 2011-2328:2012-1336-T g.chr10:47059148A>G uc001jed.3 - COL4A2 1284 broad.mit.edu 37 13 111007778 111007778 + Intron SNP T C C 2011-2328:2012-1336-T g.chr13:111007778T>C uc001vqx.2 + NM_001846 NP_001837 STAT3 6774 broad.mit.edu 37 17 40490019 40490019 + Intron SNP T G G rs71367911 2011-2328:2012-1336-T g.chr17:40490019T>G uc002hzl.1 - STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron NM_139276 NP_644805 MUC4 4585 broad.mit.edu 37 3 195502759 195502759 + Intron SNP A G G 2011-2328:2012-1336-T g.chr3:195502759A>G uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 GPR174 84636 broad.mit.edu 37 X 78426380 78426380 + 5'Flank SNP G A A rs41307268 by1000genomes 2011-2328:2012-1336-T g.chrX:78426380G>A uc004edg.1 + NM_032553 NP_115942 MACF1 23499 broad.mit.edu 37 1 39851427 39851427 + Missense_Mutation SNP G A A rs145533329 2011-2329:2012-1318-T g.chr1:39851427G>A uc010oiu.1 + 21 9621 c.9490G>A c.(9490-9492)GAA>AAA p.E3164K MACF1_uc010ois.1_Missense_Mutation_p.E2662K|MACF1_uc001cda.1_Missense_Mutation_p.E2549K|MACF1_uc001cdc.1_Missense_Mutation_p.E1728K NM_033044 NP_149033 PDE4DIP 9659 broad.mit.edu 37 1 145039866 145039866 + 5'UTR SNP A G G rs1445033 2011-2329:2012-1318-T g.chr1:145039866A>G uc001elx.3 - 1 NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_5'UTR|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001emh.2_Intron NM_014644 NP_055459 BCL9 607 broad.mit.edu 37 1 147091693 147091693 + Missense_Mutation SNP G A A 2011-2329:2012-1318-T g.chr1:147091693G>A uc001epq.2 + 8 2472 c.1732G>A c.(1732-1734)GTC>ATC p.V578I BCL9_uc010ozr.1_Missense_Mutation_p.V504I NM_004326 NP_004317 ASH1L 55870 broad.mit.edu 37 1 155319182 155319182 + Missense_Mutation SNP G C C 2011-2329:2012-1318-T g.chr1:155319182G>C uc009wqq.2 - 19 7985 c.7505C>G c.(7504-7506)ACT>AGT p.T2502S RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.T2497S|MIR555_hsa-mir-555|MI0003561_5'Flank NM_018489 NP_060959 SPTA1 6708 broad.mit.edu 37 1 158582543 158582543 + Intron SNP G A A rs2251963 by1000genomes 2011-2329:2012-1318-T g.chr1:158582543G>A uc001fst.1 - NM_003126 NP_003117 SPTA1 6708 broad.mit.edu 37 1 158582552 158582552 + Intron SNP G A A rs2251964 by1000genomes 2011-2329:2012-1318-T g.chr1:158582552G>A uc001fst.1 - NM_003126 NP_003117 IRF6 3664 broad.mit.edu 37 1 209979613 209979613 + 5'Flank SNP C G G rs7545538 by1000genomes 2011-2329:2012-1318-T g.chr1:209979613C>G uc001hhq.1 - IRF6_uc010psm.1_5'Flank|IRF6_uc009xct.1_5'Flank NM_006147 NP_006138 ADAM12 8038 broad.mit.edu 37 10 127727768 127727768 + Intron SNP A G G rs1278255 by1000genomes 2011-2329:2012-1318-T g.chr10:127727768A>G uc001ljk.2 - ADAM12_uc010qul.1_Intron NM_003474 NP_003465 ADAM12 8038 broad.mit.edu 37 10 127727808 127727808 + Intron SNP A G G rs1278256 by1000genomes 2011-2329:2012-1318-T g.chr10:127727808A>G uc001ljk.2 - ADAM12_uc010qul.1_Intron NM_003474 NP_003465 GPR123 84435 broad.mit.edu 37 10 134922413 134922413 + Intron SNP T C C rs12781563 by1000genomes 2011-2329:2012-1318-T g.chr10:134922413T>C uc001llx.3 + GPR123_uc001llw.2_Intron NM_001083909 NP_001077378 MUC5B 727897 broad.mit.edu 37 11 1141787 1141787 + 5'Flank SNP G A A 2011-2329:2012-1318-T g.chr11:1141787G>A uc009ycr.1 + NM_017511 NP_059981 ATM 472 broad.mit.edu 37 11 108225483 108225483 + Intron SNP C T T rs664982 byFrequency;by1000genomes 2011-2329:2012-1318-T g.chr11:108225483C>T uc001pkb.1 + ATM_uc009yxr.1_Intron|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Intron NM_000051 NP_000042 TSPAN9 10867 broad.mit.edu 37 12 3307045 3307045 + Intron SNP T C C rs146495500 by1000genomes 2011-2329:2012-1318-T g.chr12:3307045T>C uc001qlp.2 + NM_006675 NP_006666 PDE3A 5139 broad.mit.edu 37 12 20792835 20792835 + Missense_Mutation SNP T G G 2011-2329:2012-1318-T g.chr12:20792835T>G uc001reh.1 + 10 2217 c.2195T>G c.(2194-2196)ATT>AGT p.I732S NM_000921 NP_000912 RARG 5916 broad.mit.edu 37 12 53614349 53614349 + Intron SNP T C C rs941138 by1000genomes 2011-2329:2012-1318-T g.chr12:53614349T>C uc001sce.2 - RARG_uc001scd.2_5'Flank|RARG_uc010sob.1_5'Flank|RARG_uc001scf.2_Intron|RARG_uc001scg.2_Intron|RARG_uc010soc.1_Intron|RARG_uc010sod.1_5'Flank NM_000966 NP_000957 SYT1 6857 broad.mit.edu 37 12 79701964 79701964 + Intron SNP A G G rs11113612 by1000genomes 2011-2329:2012-1318-T g.chr12:79701964A>G uc001sys.2 + SYT1_uc001syt.2_Intron|SYT1_uc001syu.2_Intron|SYT1_uc001syv.2_Intron NM_001135805 NP_001129277 RB1 5925 broad.mit.edu 37 13 48916895 48916895 + Intron SNP C T T rs520342 by1000genomes 2011-2329:2012-1318-T g.chr13:48916895C>T uc001vcb.2 + RB1_uc010acs.1_Intron NM_000321 NP_000312 NRXN3 9369 broad.mit.edu 37 14 79432805 79432805 + Intron SNP C T T rs11851757 by1000genomes 2011-2329:2012-1318-T g.chr14:79432805C>T uc001xun.2 + NRXN3_uc001xum.1_Intron|NRXN3_uc010asv.1_Intron NM_004796 NP_004787 JAG2 3714 broad.mit.edu 37 14 105629947 105629947 + Intron SNP C T T rs3784239 by1000genomes 2011-2329:2012-1318-T g.chr14:105629947C>T uc001yqg.2 - JAG2_uc001yqh.2_Intron NM_002226 NP_002217 PACS2 23241 broad.mit.edu 37 14 105845612 105845612 + Intron SNP C T T rs140753042 by1000genomes 2011-2329:2012-1318-T g.chr14:105845612C>T uc001yqt.2 + PACS2_uc001yqs.2_Intron|PACS2_uc001yqv.2_Intron|PACS2_uc001yqu.2_Intron NM_015197 NP_056012 TRAF7 84231 broad.mit.edu 37 16 2214698 2214698 + Intron SNP G A A 2011-2329:2012-1318-T g.chr16:2214698G>A uc002cow.2 + NM_032271 NP_115647 ABAT 18 broad.mit.edu 37 16 8873493 8873493 + Intron SNP C T T rs1079349 by1000genomes 2011-2329:2012-1318-T g.chr16:8873493C>T uc002czc.3 + ABAT_uc002czd.3_Intron|ABAT_uc010buh.2_Intron|ABAT_uc010bui.2_Intron NM_020686 NP_065737 KLHDC4 54758 broad.mit.edu 37 16 87773109 87773109 + Intron SNP C G G 2011-2329:2012-1318-T g.chr16:87773109C>G uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 FANCA 2175 broad.mit.edu 37 16 89831510 89831510 + Intron SNP C A A rs2159116 byFrequency;by1000genomes 2011-2329:2012-1318-T g.chr16:89831510C>A uc002fou.1 - FANCA_uc010vpn.1_Intron|FANCA_uc010vpo.1_5'Flank NM_000135 NP_000126 RPTOR 57521 broad.mit.edu 37 17 78814482 78814482 + Intron SNP G A A 2011-2329:2012-1318-T g.chr17:78814482G>A uc002jyt.1 + RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 KIAA1468 57614 broad.mit.edu 37 18 59928721 59928721 + Intron SNP G A A rs77208629 by1000genomes 2011-2329:2012-1318-T g.chr18:59928721G>A uc002lil.2 + KIAA1468_uc002lik.1_Intron|KIAA1468_uc010xel.1_Intron|KIAA1468_uc002lim.2_Intron NM_020854 NP_065905 ZNF799 90576 broad.mit.edu 37 19 12491639 12491639 + Missense_Mutation SNP A G G rs59301182 by1000genomes 2011-2329:2012-1318-T g.chr19:12491639A>G uc002mts.3 - 4 903 c.437T>C c.(436-438)CTG>CCG p.L146P ZNF799 90576 broad.mit.edu 37 19 12491654 12491654 + Missense_Mutation SNP C T T rs57371898 by1000genomes 2011-2329:2012-1318-T g.chr19:12491654C>T uc002mts.3 - 4 888 c.422G>A c.(421-423)CGT>CAT p.R141H ZNF799 90576 broad.mit.edu 37 19 12491779 12491779 + Silent SNP T C C rs17706075 by1000genomes 2011-2329:2012-1318-T g.chr19:12491779T>C uc002mts.3 - 4 763 c.297A>G c.(295-297)GCA>GCG p.A99A UNC13A 23025 broad.mit.edu 37 19 17783689 17783689 + Intron SNP C T T rs117247008 by1000genomes 2011-2329:2012-1318-T g.chr19:17783689C>T uc002nhd.2 - NM_001080421 NP_001073890 JAK3 3718 broad.mit.edu 37 19 17952609 17952609 + Intron SNP T G G rs3212730 by1000genomes 2011-2329:2012-1318-T g.chr19:17952609T>G uc002nhn.3 - JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Intron|JAK3_uc010xpx.1_Intron NM_000215 NP_000206 AXL 558 broad.mit.edu 37 19 41765407 41765407 + Intron SNP A C C rs4591267 by1000genomes 2011-2329:2012-1318-T g.chr19:41765407A>C uc010ehj.2 + CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_5'Flank|HNRNPUL1_uc002oqa.3_5'Flank|AXL_uc010ehk.2_Intron NM_021913 NP_068713 RMND5A 64795 broad.mit.edu 37 2 87013197 87013197 + Intron SNP G A A rs138190740 by1000genomes 2011-2329:2012-1318-T g.chr2:87013197G>A uc002srs.3 + CD8A_uc002srv.2_Intron|CD8A_uc010ytn.1_Intron|CD8A_uc002srt.2_Intron|CD8A_uc002sru.2_Intron RMND5A 64795 broad.mit.edu 37 2 87626059 87626059 + Intron SNP G A A rs6742376 by1000genomes 2011-2329:2012-1318-T g.chr2:87626059G>A uc002srs.3 + LRP1B 53353 broad.mit.edu 37 2 141751461 141751461 + Intron SNP C T T rs11678316 by1000genomes 2011-2329:2012-1318-T g.chr2:141751461C>T uc002tvj.1 - LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 TTN 7273 broad.mit.edu 37 2 179411665 179411665 + Intron SNP A G G rs2288327 by1000genomes 2011-2329:2012-1318-T g.chr2:179411665A>G uc010zfg.1 - uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron NM_133378 NP_596869 STAT1 6772 broad.mit.edu 37 2 191878801 191878801 + 5'UTR SNP G A A rs147950001 by1000genomes 2011-2329:2012-1318-T g.chr2:191878801G>A uc002usj.2 - 1 STAT1_uc010fse.1_5'Flank|STAT1_uc002usk.2_5'UTR|STAT1_uc002usl.2_5'UTR|STAT1_uc010fsf.1_5'UTR NM_007315 NP_009330 MYT1 4661 broad.mit.edu 37 20 62833460 62833460 + Intron SNP A G G rs3003139 by1000genomes 2011-2329:2012-1318-T g.chr20:62833460A>G uc002yii.2 + MYT1_uc002yih.2_Intron NM_004535 NP_004526 CIDEC 63924 broad.mit.edu 37 3 10035896 10035896 + Intron SNP A T T rs7615088 by1000genomes 2011-2329:2012-1318-T g.chr3:10035896A>T uc003bto.2 - uc003bup.1_Intron|uc003buq.1_Intron FANCD2 2177 broad.mit.edu 37 3 10119603 10119603 + Intron SNP C A A rs6792951 by1000genomes 2011-2329:2012-1318-T g.chr3:10119603C>A uc003buw.2 + FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron NM_033084 NP_149075 FANCD2 2177 broad.mit.edu 37 3 10119917 10119917 + Intron SNP T C C rs6805869 by1000genomes 2011-2329:2012-1318-T g.chr3:10119917T>C uc003buw.2 + FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron NM_033084 NP_149075 DPPA4 55211 broad.mit.edu 37 3 109056751 109056751 + 5'Flank SNP C A A rs1163447 by1000genomes 2011-2329:2012-1318-T g.chr3:109056751C>A uc003dxq.3 - DPPA4_uc011bho.1_5'Flank|DPPA4_uc011bhp.1_5'Flank NM_018189 NP_060659 TP63 8626 broad.mit.edu 37 3 189587091 189587091 + Intron SNP A G G rs6789961 byFrequency;by1000genomes 2011-2329:2012-1318-T g.chr3:189587091A>G uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsa.2_Intron|TP63_uc003fsb.2_Intron|TP63_uc003fsc.2_Intron|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Intron NM_003722 NP_003713 MSH3 4437 broad.mit.edu 37 5 79952390 79952390 + Intron SNP T C C rs1643639 by1000genomes 2011-2329:2012-1318-T g.chr5:79952390T>C uc003kgz.2 + DHFR_uc011ctl.1_5'Flank|DHFR_uc011ctm.1_5'Flank|DHFR_uc010jap.1_5'Flank|DHFR_uc003kgx.1_5'Flank|DHFR_uc003kgy.1_5'Flank NM_002439 NP_002430 HMP19 51617 broad.mit.edu 37 5 173495603 173495603 + Intron SNP T C C rs72814776 by1000genomes 2011-2329:2012-1318-T g.chr5:173495603T>C uc003mcx.2 + NM_015980 NP_057064 NSD1 64324 broad.mit.edu 37 5 176720766 176720766 + Intron SNP A G G rs6872201 by1000genomes 2011-2329:2012-1318-T g.chr5:176720766A>G uc003mfr.3 + NSD1_uc003mft.3_Intron|NSD1_uc011dfx.1_Intron NM_022455 NP_071900 RUFY1 80230 broad.mit.edu 37 5 179021982 179021982 + Intron SNP G A A rs28685239 by1000genomes 2011-2329:2012-1318-T g.chr5:179021982G>A uc003mka.1 + RUFY1_uc003mkb.1_Intron|RUFY1_uc003mkc.1_Intron|RUFY1_uc003mkd.1_Intron NM_025158 NP_079434 POU5F1 5460 broad.mit.edu 37 6 31134625 31134625 + Intron SNP A G G rs115370696 byFrequency;by1000genomes 2011-2329:2012-1318-T g.chr6:31134625A>G uc003nsv.2 - POU5F1_uc003nsu.2_5'Flank NM_002701 NP_002692 HLA-B 3106 broad.mit.edu 37 6 31241116 31241116 + Intron SNP C T T rs28367582 2011-2329:2012-1318-T g.chr6:31241116C>T uc003ntf.2 - HLA-C_uc011dnj.1_5'Flank|HLA-C_uc003nsx.2_5'Flank|HLA-C_uc003nsy.2_5'Flank|HLA-C_uc003nsz.2_5'Flank|HLA-C_uc010jsl.2_5'Flank|HLA-C_uc003nta.2_5'Flank|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_5'Flank TAP2 6891 broad.mit.edu 37 6 32797684 32797684 + Intron SNP A G G rs241437 by1000genomes 2011-2329:2012-1318-T g.chr6:32797684A>G uc003occ.2 - TAP2_uc011dqf.1_Intron|TAP2_uc003ocb.1_Intron|TAP2_uc003ocd.2_Intron NM_018833 NP_061313 LIMK1 3984 broad.mit.edu 37 7 73507090 73507090 + Intron SNP G C C 2011-2329:2012-1318-T g.chr7:73507090G>C uc003uaa.1 + RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_Intron|LIMK1_uc003uab.2_5'Flank NM_002314 NP_002305 FAM135B 51059 broad.mit.edu 37 8 139190957 139190957 + Intron SNP T G G rs4909747 by1000genomes 2011-2329:2012-1318-T g.chr8:139190957T>G uc003yuy.2 - FAM135B_uc003yux.2_Intron|FAM135B_uc003yuz.2_Intron NM_015912 NP_056996 NOTCH1 4851 broad.mit.edu 37 9 139393342 139393342 + Intron SNP C T T 2011-2329:2012-1318-T g.chr9:139393342C>T uc004chz.2 - NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139397707 139397707 + Silent SNP G A A rs10521 by1000genomes 2011-2329:2012-1318-T g.chr9:139397707G>A uc004chz.2 - 27 5094 c.5094C>T c.(5092-5094)GAC>GAT p.D1698D NOTCH1_uc004cia.1_Silent_p.D928D NM_017617 NP_060087 RGAG1 57529 broad.mit.edu 37 X 109693800 109693800 + 5'UTR SNP C T T 2011-2329:2012-1318-T g.chrX:109693800C>T uc004eor.1 + 3 RGAG1_uc011msr.1_5'UTR NM_020769 NP_065820 PDE1B 5153 broad.mit.edu 37 12 54955461 54955461 + Intron SNP A G G rs9668037 by1000genomes 2011-2330:2012-1337-T g.chr12:54955461A>G uc001sgd.1 + PDE1B_uc010soz.1_Intron|PDE1B_uc010spa.1_Intron|PDE1B_uc001sgf.2_Intron|PDE1B_uc001sge.2_Intron|PDE1B_uc009znq.2_Intron NM_000924 NP_000915 VPS41 27072 broad.mit.edu 37 7 38782951 38782951 + Intron SNP G A A rs10254567 by1000genomes 2011-2330:2012-1337-T g.chr7:38782951G>A uc003tgy.2 - VPS41_uc003tgz.2_Intron|VPS41_uc010kxn.2_Intron|VPS41_uc003tgx.2_Intron NM_014396 NP_055211 EXOC4 60412 broad.mit.edu 37 7 133580545 133580545 + Intron SNP A G G rs2042455 by1000genomes 2011-2330:2012-1337-T g.chr7:133580545A>G uc003vrk.2 + EXOC4_uc011kpo.1_Intron|EXOC4_uc003vrl.2_Intron|EXOC4_uc011kpp.1_Intron NM_021807 NP_068579 PANK4 55229 broad.mit.edu 37 1 2442953 2442953 + Intron SNP C A A rs2236397 by1000genomes 2011-2331:2012-1338-T g.chr1:2442953C>A uc001ajm.1 - PANK4_uc010nza.1_Intron NM_018216 NP_060686 SPTA1 6708 broad.mit.edu 37 1 158582838 158582838 + Intron SNP G C C rs2157691 by1000genomes 2011-2331:2012-1338-T g.chr1:158582838G>C uc001fst.1 - NM_003126 NP_003117 MDM4 4194 broad.mit.edu 37 1 204515863 204515863 + Intron SNP C T T rs2290855 by1000genomes 2011-2331:2012-1338-T g.chr1:204515863C>T uc001hba.2 + MDM4_uc001hbd.1_Intron|MDM4_uc010pqw.1_Intron|MDM4_uc010pqx.1_Intron|MDM4_uc001hay.1_Intron|MDM4_uc001hbb.2_Intron|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_Intron|MDM4_uc009xbe.1_Intron NM_002393 NP_002384 PARP1 142 broad.mit.edu 37 1 226550741 226550741 + Intron SNP C T T rs747659 byFrequency;by1000genomes 2011-2331:2012-1338-T g.chr1:226550741C>T uc001hqd.3 - NM_001618 NP_001609 RET 5979 broad.mit.edu 37 10 43612233 43612233 + Intron SNP C A A 2011-2331:2012-1338-T g.chr10:43612233C>A uc001jal.2 + RET_uc001jak.1_Intron|RET_uc010qez.1_Intron NM_020975 NP_066124 TPCN2 219931 broad.mit.edu 37 11 68832505 68832505 + Intron SNP G A A rs10792016 by1000genomes 2011-2331:2012-1338-T g.chr11:68832505G>A uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron NM_139075 NP_620714 TPCN2 219931 broad.mit.edu 37 11 68843990 68843990 + Intron SNP G A A rs35306535 by1000genomes 2011-2331:2012-1338-T g.chr11:68843990G>A uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_Intron NM_139075 NP_620714 CACNA1C 775 broad.mit.edu 37 12 2220061 2220061 + Intron SNP G C C rs2238031 by1000genomes 2011-2331:2012-1338-T g.chr12:2220061G>C uc009zdu.1 + CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron NM_199460 NP_955630 PIK3C2G 5288 broad.mit.edu 37 12 18414253 18414253 + 5'Flank SNP C A A rs10770343 by1000genomes 2011-2331:2012-1338-T g.chr12:18414253C>A uc001rdt.2 + PIK3C2G_uc010sia.1_5'Flank NM_004570 NP_004561 BCL7A 605 broad.mit.edu 37 12 122468756 122468756 + Intron SNP A G G rs59397548 by1000genomes 2011-2331:2012-1338-T g.chr12:122468756A>G uc001ubp.2 + BCL7A_uc001ubo.2_Intron NM_001024808 NP_001019979 CDH13 1012 broad.mit.edu 37 16 83692591 83692591 + Intron SNP C A A rs62045344 2011-2331:2012-1338-T g.chr16:83692591C>A uc002fgx.2 + CDH13_uc010vns.1_Intron|CDH13_uc010vnt.1_Intron|CDH13_uc010vnu.1_Intron NM_001257 NP_001248 CPNE7 27132 broad.mit.edu 37 16 89646023 89646023 + Intron SNP C T T rs34652781 by1000genomes 2011-2331:2012-1338-T g.chr16:89646023C>T uc002fnp.2 + CPNE7_uc002fnq.2_Intron NM_014427 NP_055242 TP53 7157 broad.mit.edu 37 17 7579310 7579310 + Splice_Site SNP A G G 2011-2331:2012-1338-T g.chr17:7579310A>G uc002gim.2 - 4 569 c.375_splice c.e4+1 p.T125_splice TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice NM_001126112 NP_001119584 NF1 4763 broad.mit.edu 37 17 29496819 29496819 + Intron SNP C T T rs2905807 by1000genomes 2011-2331:2012-1338-T g.chr17:29496819C>T uc002hgg.2 + NF1_uc002hge.1_Intron|NF1_uc002hgf.1_Intron|NF1_uc002hgh.2_Intron|NF1_uc010csn.1_Intron NM_001042492 NP_001035957 NF1 4763 broad.mit.edu 37 17 29546175 29546175 + Intron SNP T C C rs2905880 by1000genomes 2011-2331:2012-1338-T g.chr17:29546175T>C uc002hgg.2 + NF1_uc002hge.1_3'UTR|NF1_uc002hgf.1_Intron|NF1_uc002hgh.2_Intron|NF1_uc010csn.1_Intron NM_001042492 NP_001035957 NF1 4763 broad.mit.edu 37 17 29653293 29653293 + Intron SNP T C C rs9894648 by1000genomes 2011-2331:2012-1338-T g.chr17:29653293T>C uc002hgg.2 + NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron NM_001042492 NP_001035957 LAMA1 284217 broad.mit.edu 37 18 6995512 6995512 + Intron SNP G A A rs4798524 by1000genomes 2011-2331:2012-1338-T g.chr18:6995512G>A uc002knm.2 - LAMA1_uc010wzj.1_Intron NM_005559 NP_005550 ZNF521 25925 broad.mit.edu 37 18 22804244 22804244 + Intron SNP T C C rs4129657 by1000genomes 2011-2331:2012-1338-T g.chr18:22804244T>C uc002kvk.2 - ZNF521_uc010xbe.1_Intron|ZNF521_uc010dly.2_Intron|ZNF521_uc002kvl.2_Intron NM_015461 NP_056276 PKP4 8502 broad.mit.edu 37 2 159522879 159522879 + Intron SNP C G G rs2248854 by1000genomes 2011-2331:2012-1338-T g.chr2:159522879C>G uc002tzv.2 + PKP4_uc002tzu.2_Intron|PKP4_uc002tzw.2_Intron|PKP4_uc002tzx.2_Intron|PKP4_uc002uaa.2_Intron|uc002uab.1_Intron|PKP4_uc002uac.2_Intron|PKP4_uc002uad.2_5'Flank|PKP4_uc002uae.1_5'Flank NM_003628 NP_003619 PPP1R16B 26051 broad.mit.edu 37 20 37547374 37547374 + 3'UTR SNP G A A rs4812336 by1000genomes 2011-2331:2012-1338-T g.chr20:37547374G>A uc002xje.2 + 11 PPP1R16B_uc010ggc.2_3'UTR NM_015568 NP_056383 CDH4 1002 broad.mit.edu 37 20 59981600 59981600 + Intron SNP G A A rs112801402 by1000genomes 2011-2331:2012-1338-T g.chr20:59981600G>A uc002ybn.1 + NM_001794 NP_001785 RUNX1 861 broad.mit.edu 37 21 36421036 36421036 + Intron SNP T C C rs8133634 by1000genomes 2011-2331:2012-1338-T g.chr21:36421036T>C uc010gmu.2 - RUNX1_uc002yut.1_Intron|RUNX1_uc010gmv.2_Intron|RUNX1_uc002yuj.3_Intron|RUNX1_uc002yuk.3_Intron|RUNX1_uc002yum.1_Intron|RUNX1_uc010gmw.1_Intron NM_001754 NP_001745 TMPRSS2 7113 broad.mit.edu 37 21 42851006 42851006 + Intron SNP A G G rs9975014 by1000genomes 2011-2331:2012-1338-T g.chr21:42851006A>G uc002yzj.2 - TMPRSS2_uc010gor.2_Intron|TMPRSS2_uc010gos.1_Intron NM_005656 NP_005647 CNTN6 27255 broad.mit.edu 37 3 1337203 1337203 + Intron SNP A G G rs565499 by1000genomes 2011-2331:2012-1338-T g.chr3:1337203A>G uc003boz.2 + CNTN6_uc010hbo.2_Intron|CNTN6_uc011asj.1_Intron|CNTN6_uc003bpa.2_Intron NM_014461 NP_055276 SLC6A3 6531 broad.mit.edu 37 5 1423470 1423470 + Intron SNP C T T rs380689 2011-2331:2012-1338-T g.chr5:1423470C>T uc003jck.2 - NM_001044 NP_001035 ADAMTS12 81792 broad.mit.edu 37 5 33631100 33631100 + Intron SNP C T T rs112524145 by1000genomes 2011-2331:2012-1338-T g.chr5:33631100C>T uc003jia.1 - ADAMTS12_uc010iuq.1_Intron NM_030955 NP_112217 SLCO4C1 353189 broad.mit.edu 37 5 101632467 101632467 + 5'Flank SNP G T T rs10039511 by1000genomes 2011-2331:2012-1338-T g.chr5:101632467G>T uc003knm.2 - NM_180991 NP_851322 RUFY1 80230 broad.mit.edu 37 5 178986261 178986261 + Intron SNP C G G rs6601050 by1000genomes 2011-2331:2012-1338-T g.chr5:178986261C>G uc003mka.1 + RUFY1_uc003mkb.1_5'Flank|RUFY1_uc003mkc.1_5'Flank NM_025158 NP_079434 BBS9 27241 broad.mit.edu 37 7 33186065 33186065 + Intron SNP T G G rs77462109 byFrequency;by1000genomes 2011-2331:2012-1338-T g.chr7:33186065T>G uc003tdn.1 + BBS9_uc003tdo.1_Intron|BBS9_uc003tdp.1_Intron|BBS9_uc003tdq.1_Intron|BBS9_uc010kwn.1_Intron|BBS9_uc011kan.1_Intron NM_198428 NP_940820 LAMB1 3912 broad.mit.edu 37 7 107643977 107643977 + 5'Flank SNP C T T rs4320486 by1000genomes 2011-2331:2012-1338-T g.chr7:107643977C>T uc003vew.2 - LAMB1_uc003vev.2_5'Flank|LAMB1_uc003vex.2_5'Flank|LAMB1_uc010ljn.1_5'Flank NM_002291 NP_002282 DOCK5 80005 broad.mit.edu 37 8 25238543 25238543 + Intron SNP G A A rs34582687 by1000genomes 2011-2331:2012-1338-T g.chr8:25238543G>A uc003xeg.2 + PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xei.2_Intron|DOCK5_uc003xej.2_Intron NM_024940 NP_079216 NFIB 4781 broad.mit.edu 37 9 14306884 14306884 + Intron SNP T C C rs10961471 by1000genomes 2011-2331:2012-1338-T g.chr9:14306884T>C uc003zle.2 - NFIB_uc003zlf.2_Intron|NFIB_uc011lmo.1_Intron NM_005596 NP_005587 KIAA0562 9731 broad.mit.edu 37 1 3741575 3741575 + Intron SNP G A A 2011-2333:2012-309-T g.chr1:3741575G>A uc001aky.2 - KIAA0562_uc010nzm.1_Intron NM_014704 NP_055519 GRK5 2869 broad.mit.edu 37 10 121186839 121186839 + Intron SNP T C C rs145630564 by1000genomes 2011-2333:2012-309-T g.chr10:121186839T>C uc001led.2 + GRK5_uc009xzh.2_Intron|GRK5_uc010qta.1_Intron NM_005308 NP_005299 HERC2 8924 broad.mit.edu 37 15 28356905 28356905 + 3'UTR SNP C T T 2011-2333:2012-309-T g.chr15:28356905C>T uc001zbj.2 - 93 HERC2_uc001zbi.2_3'UTR NM_004667 NP_004658 RPTOR 57521 broad.mit.edu 37 17 78718774 78718774 + Intron SNP C T T rs72851570 by1000genomes 2011-2333:2012-309-T g.chr17:78718774C>T uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 PEG3 5178 broad.mit.edu 37 19 57352605 57352605 + 5'Flank SNP A T T 2011-2333:2012-309-T g.chr19:57352605A>T uc002qnv.2 - ZIM2_uc002qnr.2_5'Flank|ZIM2_uc002qnq.2_5'Flank|ZIM2_uc010etp.2_5'Flank|ZIM2_uc010ygs.1_5'Flank|PEG3_uc002qnw.2_5'Flank|PEG3_uc002qnx.2_5'Flank|PEG3_uc010etr.2_5'Flank|MIMT1_uc010ett.1_RNA NM_006210 NP_006201 RMND5A 64795 broad.mit.edu 37 2 87634306 87634306 + Intron SNP G A A 2011-2333:2012-309-T g.chr2:87634306G>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87656471 87656471 + Intron SNP C T T 2011-2333:2012-309-T g.chr2:87656471C>T uc002srs.3 + C2orf83 56918 broad.mit.edu 37 2 228482356 228482356 + Intron SNP G A A 2011-2333:2012-309-T g.chr2:228482356G>A uc002vph.2 - C2orf83_uc010zlu.1_Intron NM_020161 NP_064546 GPR35 2859 broad.mit.edu 37 2 241565199 241565199 + Intron SNP A G G 2011-2333:2012-309-T g.chr2:241565199A>G uc010fzh.1 + GPR35_uc010fzi.1_Intron NM_005301 NP_005292 RSPH1 89765 broad.mit.edu 37 21 43897303 43897303 + Intron SNP C T T 2011-2333:2012-309-T g.chr21:43897303C>T uc002zbg.2 - NM_080860 NP_543136 MST1R 4486 broad.mit.edu 37 3 49927406 49927406 + Silent SNP G A A 2011-2333:2012-309-T g.chr3:49927406G>A uc003cxy.3 - 19 4162 c.3898C>T c.(3898-3900)CTG>TTG p.L1300L MST1R_uc011bdc.1_Silent_p.L179L NM_002447 NP_002438 BPHL 670 broad.mit.edu 37 6 3146237 3146237 + Intron SNP G T T 2011-2333:2012-309-T g.chr6:3146237G>T uc003mva.2 + BPHL_uc003muz.2_Intron|BPHL_uc011dht.1_Intron|BPHL_uc003muy.2_Intron NM_004332 NP_004323 AUTS2 26053 broad.mit.edu 37 7 69960644 69960644 + Intron SNP A G G 2011-2333:2012-309-T g.chr7:69960644A>G uc003tvw.3 + AUTS2_uc003tvx.3_Intron NM_015570 NP_056385 PTPRN2 5799 broad.mit.edu 37 7 158264683 158264683 + Intron SNP C T T 2011-2333:2012-309-T g.chr7:158264683C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 UBR5 51366 broad.mit.edu 37 8 103359316 103359316 + Missense_Mutation SNP G A A 2011-2333:2012-309-T g.chr8:103359316G>A uc003ykr.1 - 6 424 c.391C>T c.(391-393)CGC>TGC p.R131C UBR5_uc003yks.1_Missense_Mutation_p.R131C NM_015902 NP_056986 NUP214 8021 broad.mit.edu 37 9 134003119 134003119 + Intron SNP G A A 2011-2333:2012-309-T g.chr9:134003119G>A uc004cag.2 + NUP214_uc004cah.2_Intron|NUP214_uc004caf.1_Intron NM_005085 NP_005076 HUWE1 10075 broad.mit.edu 37 X 53713601 53713601 + 5'UTR SNP C T T rs5978184 by1000genomes 2011-2333:2012-309-T g.chrX:53713601C>T uc004dsp.2 - 1 NM_031407 NP_113584 LDLRAD1 388633 broad.mit.edu 37 1 54483694 54483694 + Intron SNP C T T rs34764952 by1000genomes 2011-2334:2012-1339-T g.chr1:54483694C>T uc001cwm.1 - LDLRAD1_uc010onz.1_Intron|LDLRAD1_uc010ooa.1_Intron|LDLRAD1_uc009vzn.1_Intron NM_001010978 NP_001010978 SPTA1 6708 broad.mit.edu 37 1 158639601 158639601 + Intron SNP A G G rs2298801 by1000genomes 2011-2334:2012-1339-T g.chr1:158639601A>G uc001fst.1 - NM_003126 NP_003117 SPTA1 6708 broad.mit.edu 37 1 158656758 158656758 + 5'Flank SNP A G G rs443000 by1000genomes 2011-2334:2012-1339-T g.chr1:158656758A>G uc001fst.1 - NM_003126 NP_003117 IRF6 3664 broad.mit.edu 37 1 209975386 209975386 + 5'UTR SNP A G G rs861019 byFrequency;by1000genomes 2011-2334:2012-1339-T g.chr1:209975386A>G uc001hhq.1 - 2 IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_5'UTR NM_006147 NP_006138 PCDH15 65217 broad.mit.edu 37 10 56129066 56129066 + Intron SNP A G G rs11594958 by1000genomes 2011-2334:2012-1339-T g.chr10:56129066A>G uc001jju.1 - PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Intron|PCDH15_uc010qhw.1_Intron|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhy.1_Intron|PCDH15_uc010qhz.1_Intron|PCDH15_uc010qia.1_Intron|PCDH15_uc010qib.1_Intron|PCDH15_uc001jjw.2_Intron NM_033056 NP_149045 KNDC1 85442 broad.mit.edu 37 10 134982123 134982123 + Intron SNP T G G rs3008304 by1000genomes 2011-2334:2012-1339-T g.chr10:134982123T>G uc001llz.1 + KNDC1_uc001lma.1_Intron NM_152643 NP_689856 BRSK2 9024 broad.mit.edu 37 11 1416108 1416108 + Intron SNP G A A rs71469891 2011-2334:2012-1339-T g.chr11:1416108G>A uc001lti.2 + BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001ltj.2_Intron|BRSK2_uc001ltk.2_Intron|BRSK2_uc001ltl.2_Intron NM_003957 NP_003948 PIK3C2A 5286 broad.mit.edu 37 11 17126670 17126670 + Intron SNP C T T rs2052188 by1000genomes 2011-2334:2012-1339-T g.chr11:17126670C>T uc001mmq.3 - PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Intron|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 CBL 867 broad.mit.edu 37 11 119146659 119146659 + Intron SNP G C C rs2511854 by1000genomes 2011-2334:2012-1339-T g.chr11:119146659G>C uc001pwe.2 + NM_005188 NP_005179 CBL 867 broad.mit.edu 37 11 119148573 119148573 + Intron SNP G T T rs2510152 by1000genomes 2011-2334:2012-1339-T g.chr11:119148573G>T uc001pwe.2 + NM_005188 NP_005179 KDM5A 5927 broad.mit.edu 37 12 464254 464254 + Intron SNP T C C rs3759371 by1000genomes 2011-2334:2012-1339-T g.chr12:464254T>C uc001qif.1 - KDM5A_uc001qie.1_Intron|KDM5A_uc010sdn.1_Intron|KDM5A_uc010sdo.1_Intron NM_001042603 NP_001036068 TSPAN9 10867 broad.mit.edu 37 12 3377875 3377875 + Intron SNP C T T rs76013798 by1000genomes 2011-2334:2012-1339-T g.chr12:3377875C>T uc001qlp.2 + NM_006675 NP_006666 PZP 5858 broad.mit.edu 37 12 9316907 9316907 + Intron SNP C T T rs1863839 by1000genomes 2011-2334:2012-1339-T g.chr12:9316907C>T uc001qvl.2 - PZP_uc009zgl.2_Intron|PZP_uc010sgo.1_Intron|PZP_uc009zgm.1_Intron NM_002864 NP_002855 STYK1 55359 broad.mit.edu 37 12 10789855 10789855 + Intron SNP T G G rs2277410 by1000genomes 2011-2334:2012-1339-T g.chr12:10789855T>G uc001qys.2 - NM_018423 NP_060893 BCL7A 605 broad.mit.edu 37 12 122468756 122468756 + Intron SNP A G G rs59397548 by1000genomes 2011-2334:2012-1339-T g.chr12:122468756A>G uc001ubp.2 + BCL7A_uc001ubo.2_Intron NM_001024808 NP_001019979 TMEM132D 121256 broad.mit.edu 37 12 129573466 129573466 + Intron SNP A G G 2011-2334:2012-1339-T g.chr12:129573466A>G uc009zyl.1 - TMEM132D_uc001uia.2_5'Flank NM_133448 NP_597705 TMEM132D 121256 broad.mit.edu 37 12 129573518 129573518 + Intron SNP A G G 2011-2334:2012-1339-T g.chr12:129573518A>G uc009zyl.1 - TMEM132D_uc001uia.2_5'Flank NM_133448 NP_597705 PARP4 143 broad.mit.edu 37 13 25034631 25034631 + Intron SNP T C C rs750770 by1000genomes 2011-2334:2012-1339-T g.chr13:25034631T>C uc001upl.2 - PARP4_uc010tdc.1_Intron NM_006437 NP_006428 FLT3 2322 broad.mit.edu 37 13 28607989 28607989 + Intron SNP T G G rs2491223 by1000genomes 2011-2334:2012-1339-T g.chr13:28607989T>G uc001urw.2 - FLT3_uc010aao.2_Intron|FLT3_uc010tdn.1_Intron NM_004119 NP_004110 FLT3 2322 broad.mit.edu 37 13 28609846 28609846 + Intron SNP A T T rs2491228 by1000genomes 2011-2334:2012-1339-T g.chr13:28609846A>T uc001urw.2 - FLT3_uc010aao.2_Intron|FLT3_uc010tdn.1_Intron NM_004119 NP_004110 FLT3 2322 broad.mit.edu 37 13 28609991 28609991 + Intron SNP T C C rs2491229 by1000genomes 2011-2334:2012-1339-T g.chr13:28609991T>C uc001urw.2 - FLT3_uc010aao.2_Intron|FLT3_uc010tdn.1_Intron NM_004119 NP_004110 FLT3 2322 broad.mit.edu 37 13 28609997 28609997 + Intron SNP T C C rs2491230 by1000genomes 2011-2334:2012-1339-T g.chr13:28609997T>C uc001urw.2 - FLT3_uc010aao.2_Intron|FLT3_uc010tdn.1_Intron NM_004119 NP_004110 BRCA2 675 broad.mit.edu 37 13 32890572 32890572 + 5'UTR SNP G A A rs1799943 byFrequency;by1000genomes 2011-2334:2012-1339-T g.chr13:32890572G>A uc001uub.1 + 2 BRCA2_uc001uua.1_5'UTR NM_000059 NP_000050 ERCC5 2073 broad.mit.edu 37 13 103498375 103498375 + 5'UTR SNP T C C rs2296147 by1000genomes 2011-2334:2012-1339-T g.chr13:103498375T>C uc001vpw.2 + 1 ERCC5_uc001vpu.1_Intron|ERCC5_uc010tjb.1_5'UTR NM_000123 NP_000114 MYH6 4624 broad.mit.edu 37 14 23865885 23865885 + Intron SNP G A A rs452036 by1000genomes 2011-2334:2012-1339-T g.chr14:23865885G>A uc001wjv.2 - NM_002471 NP_002462 MYH6 4624 broad.mit.edu 37 14 23866713 23866713 + Intron SNP A G G rs412768 by1000genomes 2011-2334:2012-1339-T g.chr14:23866713A>G uc001wjv.2 - NM_002471 NP_002462 SYNE2 23224 broad.mit.edu 37 14 64625181 64625181 + Intron SNP T A A rs17751454 by1000genomes 2011-2334:2012-1339-T g.chr14:64625181T>A uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc001xgp.2_5'Flank NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64640665 64640665 + Intron SNP C G G rs7148122 by1000genomes 2011-2334:2012-1339-T g.chr14:64640665C>G uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64655161 64655161 + Intron SNP C T T rs1255986 by1000genomes 2011-2334:2012-1339-T g.chr14:64655161C>T uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64657684 64657684 + Intron SNP C A A rs1255988 by1000genomes 2011-2334:2012-1339-T g.chr14:64657684C>A uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64674981 64674981 + Intron SNP T C C rs1152595 by1000genomes 2011-2334:2012-1339-T g.chr14:64674981T>C uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_5'Flank NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64676098 64676098 + Intron SNP A G G rs1152592 by1000genomes 2011-2334:2012-1339-T g.chr14:64676098A>G uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_5'UTR NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64680285 64680285 + Intron SNP T C C rs968257 by1000genomes 2011-2334:2012-1339-T g.chr14:64680285T>C uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_Intron|SYNE2_uc010tsi.1_5'Flank|SYNE2_uc001xgs.2_5'Flank|SYNE2_uc001xgt.2_5'Flank NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64680848 64680848 + Intron SNP A G G rs1152591 by1000genomes 2011-2334:2012-1339-T g.chr14:64680848A>G uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_Intron|SYNE2_uc010tsi.1_5'Flank|SYNE2_uc001xgs.2_5'Flank|SYNE2_uc001xgt.2_5'Flank NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64686207 64686207 + Intron SNP A G G rs915057 by1000genomes 2011-2334:2012-1339-T g.chr14:64686207A>G uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_Intron|SYNE2_uc010tsi.1_Intron|SYNE2_uc001xgs.2_Intron|SYNE2_uc001xgt.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64688175 64688175 + Intron SNP G C C rs1152588 by1000genomes 2011-2334:2012-1339-T g.chr14:64688175G>C uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_Intron|SYNE2_uc010tsi.1_Intron|SYNE2_uc001xgs.2_Intron|SYNE2_uc001xgt.2_Intron NM_015180 NP_055995 SPTLC2 9517 broad.mit.edu 37 14 78023519 78023519 + Intron SNP C G G rs2272587 by1000genomes 2011-2334:2012-1339-T g.chr14:78023519C>G uc001xub.2 - NM_004863 NP_004854 ERN2 10595 broad.mit.edu 37 16 23725023 23725023 + 5'Flank SNP G A A rs34465489 by1000genomes 2011-2334:2012-1339-T g.chr16:23725023G>A uc002dma.3 - ERN2_uc010bxp.2_5'Flank|ERN2_uc010bxq.1_5'Flank NM_033266 NP_150296 MYH13 8735 broad.mit.edu 37 17 10219366 10219366 + Intron SNP C T T rs2240577 by1000genomes 2011-2334:2012-1339-T g.chr17:10219366C>T uc002gmk.1 - NM_003802 NP_003793 PGAP3 93210 broad.mit.edu 37 17 37843859 37843859 + Intron SNP G A A rs2517956 by1000genomes 2011-2334:2012-1339-T g.chr17:37843859G>A uc002hsj.2 - ERBB2_uc002hsm.2_5'Flank|ERBB2_uc010cwa.2_5'Flank|PGAP3_uc010cvy.2_5'Flank|PGAP3_uc010wej.1_Intron|PGAP3_uc002hsk.2_Intron|PGAP3_uc010cvz.2_Intron|ERBB2_uc002hsl.2_5'Flank NM_033419 NP_219487 FAM134C 162427 broad.mit.edu 37 17 40737117 40737117 + Intron SNP G A A rs4792992 by1000genomes 2011-2334:2012-1339-T g.chr17:40737117G>A uc002ial.2 - FAM134C_uc010wgq.1_Intron|FAM134C_uc002iam.1_Intron|FAM134C_uc010cyk.1_Intron NM_178126 NP_835227 BRCA1 672 broad.mit.edu 37 17 41234304 41234304 + Intron SNP C T T rs3737559 by1000genomes 2011-2334:2012-1339-T g.chr17:41234304C>T uc002icq.2 - BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Intron|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Intron|BRCA1_uc002ict.2_Intron|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron NM_007294 NP_009225 LAMA1 284217 broad.mit.edu 37 18 6985507 6985507 + Intron SNP G A A rs523711 by1000genomes 2011-2334:2012-1339-T g.chr18:6985507G>A uc002knm.2 - LAMA1_uc010wzj.1_Intron NM_005559 NP_005550 LAMA1 284217 broad.mit.edu 37 18 6992509 6992509 + Intron SNP C T T rs7243349 by1000genomes 2011-2334:2012-1339-T g.chr18:6992509C>T uc002knm.2 - LAMA1_uc010wzj.1_Intron NM_005559 NP_005550 ZNF521 25925 broad.mit.edu 37 18 22804244 22804244 + Intron SNP T C C rs4129657 by1000genomes 2011-2334:2012-1339-T g.chr18:22804244T>C uc002kvk.2 - ZNF521_uc010xbe.1_Intron|ZNF521_uc010dly.2_Intron|ZNF521_uc002kvl.2_Intron NM_015461 NP_056276 CELF4 56853 broad.mit.edu 37 18 35071242 35071242 + Intron SNP C T T rs948530 by1000genomes 2011-2334:2012-1339-T g.chr18:35071242C>T uc002lae.2 - CELF4_uc010dnd.1_Intron|CELF4_uc002lag.2_Intron|CELF4_uc002laf.2_Intron|CELF4_uc002lai.2_Intron NM_020180 NP_064565 CRTC1 23373 broad.mit.edu 37 19 18809314 18809314 + Intron SNP C T T rs739848 by1000genomes 2011-2334:2012-1339-T g.chr19:18809314C>T uc002nkb.3 + CRTC1_uc010ebv.2_Intron NM_015321 NP_056136 DYRK1B 9149 broad.mit.edu 37 19 40325016 40325016 + 5'Flank SNP T C C rs2072290 by1000genomes 2011-2334:2012-1339-T g.chr19:40325016T>C uc002omj.2 - DYRK1B_uc002omi.2_5'Flank|DYRK1B_uc002omk.2_5'Flank|DYRK1B_uc002oml.2_5'Flank NM_004714 NP_004705 PLEKHB2 55041 broad.mit.edu 37 2 131951231 131951231 + Intron SNP T A A rs9677819 by1000genomes 2011-2334:2012-1339-T g.chr2:131951231T>A uc002tsh.2 + PLEKHB2 55041 broad.mit.edu 37 2 131953329 131953329 + Intron SNP C T T rs1834273 by1000genomes 2011-2334:2012-1339-T g.chr2:131953329C>T uc002tsh.2 + PLEKHB2 55041 broad.mit.edu 37 2 131953403 131953403 + Intron SNP T C C rs1834272 by1000genomes 2011-2334:2012-1339-T g.chr2:131953403T>C uc002tsh.2 + LRP1B 53353 broad.mit.edu 37 2 141298467 141298467 + Intron SNP A C C rs6729619 by1000genomes 2011-2334:2012-1339-T g.chr2:141298467A>C uc002tvj.1 - NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141298749 141298749 + Intron SNP G C C rs11694970 by1000genomes 2011-2334:2012-1339-T g.chr2:141298749G>C uc002tvj.1 - NM_018557 NP_061027 NFE2L2 4780 broad.mit.edu 37 2 178130073 178130073 + 5'Flank SNP T C C rs35652124 by1000genomes 2011-2334:2012-1339-T g.chr2:178130073T>C uc002ulh.3 - NFE2L2_uc002ulg.3_5'Flank|NFE2L2_uc010zfa.1_5'Flank|NFE2L2_uc002uli.3_Intron|NFE2L2_uc010fra.2_5'Flank|NFE2L2_uc010frb.2_5'Flank NM_006164 NP_006155 C2orf83 56918 broad.mit.edu 37 2 228479374 228479374 + Intron SNP T C C rs6436712 by1000genomes 2011-2334:2012-1339-T g.chr2:228479374T>C uc002vph.2 - C2orf83_uc010zlu.1_Intron NM_020161 NP_064546 ESPNL 339768 broad.mit.edu 37 2 239033382 239033382 + Intron SNP A G G rs62197368 by1000genomes 2011-2334:2012-1339-T g.chr2:239033382A>G uc002vxq.3 + ESPNL_uc010fyw.2_Intron NM_194312 NP_919288 ANO7 50636 broad.mit.edu 37 2 242144828 242144828 + Intron SNP C T T rs2012160 by1000genomes 2011-2334:2012-1339-T g.chr2:242144828C>T uc002wax.2 + NM_001001891 NP_001001891 PAK7 57144 broad.mit.edu 37 20 9543688 9543688 + Intron SNP T G G rs2297347 by1000genomes 2011-2334:2012-1339-T g.chr20:9543688T>G uc002wnl.2 - PAK7_uc002wnk.2_Intron|PAK7_uc002wnj.2_Intron|PAK7_uc010gby.1_Intron NM_020341 NP_065074 DSCAM 1826 broad.mit.edu 37 21 41514421 41514421 + Intron SNP G C C rs11701139 by1000genomes 2011-2334:2012-1339-T g.chr21:41514421G>C uc002yyq.1 - DSCAM_uc002yyr.1_Intron NM_001389 NP_001380 MX2 4600 broad.mit.edu 37 21 42733991 42733991 + Intron SNP G A A rs60975870 byFrequency;by1000genomes 2011-2334:2012-1339-T g.chr21:42733991G>A uc002yzf.1 + MX2_uc002yze.1_Intron NM_002463 NP_002454 RIPK4 54101 broad.mit.edu 37 21 43160908 43160908 + 3'UTR SNP A G G rs6586232 by1000genomes 2011-2334:2012-1339-T g.chr21:43160908A>G uc002yzn.1 - 8 NM_020639 NP_065690 RIPK4 54101 broad.mit.edu 37 21 43164345 43164345 + Intron SNP A C C rs2277790 by1000genomes 2011-2334:2012-1339-T g.chr21:43164345A>C uc002yzn.1 - NM_020639 NP_065690 FAM19A5 25817 broad.mit.edu 37 22 48980765 48980765 + Intron SNP C T T 2011-2334:2012-1339-T g.chr22:48980765C>T uc003bim.3 + FAM19A5_uc003bio.3_Intron NM_001082967 NP_001076436 TTLL8 164714 broad.mit.edu 37 22 50459937 50459937 + Intron SNP G A A rs34394484 2011-2334:2012-1339-T g.chr22:50459937G>A uc011ark.1 - NM_001080447 NP_001073916 TUBGCP6 85378 broad.mit.edu 37 22 50673250 50673250 + Intron SNP C T T rs111569990 by1000genomes 2011-2334:2012-1339-T g.chr22:50673250C>T uc003bkb.1 - TUBGCP6_uc010har.1_Intron|TUBGCP6_uc010has.1_Intron NM_020461 NP_065194 TGFBR2 7048 broad.mit.edu 37 3 30656065 30656065 + Intron SNP C T T rs56402737 by1000genomes 2011-2334:2012-1339-T g.chr3:30656065C>T uc003ceo.2 + TGFBR2_uc003cen.2_Intron NM_003242 NP_003233 SETD2 29072 broad.mit.edu 37 3 47079112 47079112 + Intron SNP G A A rs6768722 by1000genomes 2011-2334:2012-1339-T g.chr3:47079112G>A uc003cqs.2 - SETD2_uc003cqv.2_Intron|SETD2_uc003cqr.2_Intron NM_014159 NP_054878 GNL3 26354 broad.mit.edu 37 3 52719980 52719980 + 5'UTR SNP C G G rs78053665 byFrequency;by1000genomes 2011-2334:2012-1339-T g.chr3:52719980C>G uc003dfd.2 + 1 PBRM1_uc003dey.2_5'Flank|GNL3_uc011beh.1_RNA|GNL3_uc003dfe.2_5'UTR|GNL3_uc003dff.2_5'UTR NM_014366 NP_055181 BCL6 604 broad.mit.edu 37 3 187463972 187463972 + 5'Flank SNP T C C rs16862537 by1000genomes 2011-2334:2012-1339-T g.chr3:187463972T>C uc003frq.1 - NM_001706 NP_001697 TFRC 7037 broad.mit.edu 37 3 195789376 195789376 + Intron SNP C T T rs526860 by1000genomes 2011-2334:2012-1339-T g.chr3:195789376C>T uc003fvz.3 - TFRC_uc003fwa.3_Intron|TFRC_uc010hzy.2_Intron|TFRC_uc011btr.1_Intron NM_003234 NP_003225 TFRC 7037 broad.mit.edu 37 3 195804021 195804021 + Intron SNP G A A rs41300435 by1000genomes 2011-2334:2012-1339-T g.chr3:195804021G>A uc003fvz.3 - TFRC_uc003fwa.3_Intron|TFRC_uc010hzy.2_Intron|TFRC_uc011btr.1_Intron NM_003234 NP_003225 TFRC 7037 broad.mit.edu 37 3 195809564 195809564 + 5'Flank SNP A G G rs6583288 by1000genomes 2011-2334:2012-1339-T g.chr3:195809564A>G uc003fvz.3 - TFRC_uc003fwa.3_5'Flank|TFRC_uc010hzy.2_5'Flank|TFRC_uc011btr.1_5'Flank NM_003234 NP_003225 FAM53A 152877 broad.mit.edu 37 4 1651569 1651569 + Intron SNP T C C rs62287689 by1000genomes 2011-2334:2012-1339-T g.chr4:1651569T>C uc011bve.1 - FAM53A_uc010ibw.2_Intron NM_001013622 NP_001013644 FAM53A 152877 broad.mit.edu 37 4 1651582 1651582 + Intron SNP A T T rs36205275 2011-2334:2012-1339-T g.chr4:1651582A>T uc011bve.1 - FAM53A_uc010ibw.2_Intron NM_001013622 NP_001013644 FAM53A 152877 broad.mit.edu 37 4 1651739 1651739 + Intron SNP C T T 2011-2334:2012-1339-T g.chr4:1651739C>T uc011bve.1 - FAM53A_uc010ibw.2_Intron NM_001013622 NP_001013644 FAM53A 152877 broad.mit.edu 37 4 1653858 1653858 + Intron SNP T A A rs13130121 by1000genomes 2011-2334:2012-1339-T g.chr4:1653858T>A uc011bve.1 - FAM53A_uc010ibw.2_Intron NM_001013622 NP_001013644 FGFR3 2261 broad.mit.edu 37 4 1806519 1806519 + Intron SNP C T T rs3135890 by1000genomes 2011-2334:2012-1339-T g.chr4:1806519C>T uc003gdr.3 + FGFR3_uc003gdu.2_Intron|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Intron NM_000142 NP_000133 DNAH5 1767 broad.mit.edu 37 5 13735892 13735892 + Intron SNP T C C rs3734109 by1000genomes 2011-2334:2012-1339-T g.chr5:13735892T>C uc003jfd.2 - DNAH5_uc003jfc.2_Intron NM_001369 NP_001360 CDH9 1007 broad.mit.edu 37 5 26889902 26889902 + Intron SNP A C C rs13190383 by1000genomes 2011-2334:2012-1339-T g.chr5:26889902A>C uc003jgs.1 - CDH9_uc011cnv.1_Intron NM_016279 NP_057363 RANBP17 64901 broad.mit.edu 37 5 170288551 170288551 + 5'Flank SNP C G G rs3806931 by1000genomes 2011-2334:2012-1339-T g.chr5:170288551C>G uc003mba.2 + RANBP17_uc003max.1_5'Flank|RANBP17_uc003may.1_5'Flank|RANBP17_uc003maz.1_5'Flank|RANBP17_uc010jjr.1_5'Flank|RANBP17_uc003maw.2_5'Flank|RANBP17_uc011dew.1_5'Flank NM_022897 NP_075048 RANBP17 64901 broad.mit.edu 37 5 170380523 170380523 + Intron SNP G A A rs930891 by1000genomes 2011-2334:2012-1339-T g.chr5:170380523G>A uc003mba.2 + RANBP17_uc003max.1_Intron|RANBP17_uc003may.1_Intron|RANBP17_uc003maz.1_Intron|RANBP17_uc010jjr.1_Intron NM_022897 NP_075048 HLA-C 3107 broad.mit.edu 37 6 31236679 31236679 + 3'UTR SNP T C C rs115820394 byFrequency;by1000genomes 2011-2334:2012-1339-T g.chr6:31236679T>C uc003nsy.2 - 8 HLA-C_uc011dnj.1_3'UTR|HLA-C_uc003nsx.2_3'UTR|HLA-C_uc003nsz.2_3'UTR|HLA-C_uc010jsl.2_3'UTR|HLA-C_uc003nta.2_3'UTR|HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_RNA NM_002117 NP_002108 ROS1 6098 broad.mit.edu 37 6 117674087 117674087 + Intron SNP G A A rs9481703 by1000genomes 2011-2334:2012-1339-T g.chr6:117674087G>A uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 ROS1 6098 broad.mit.edu 37 6 117686943 117686943 + Intron SNP A T T rs2243383 by1000genomes 2011-2334:2012-1339-T g.chr6:117686943A>T uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 ROS1 6098 broad.mit.edu 37 6 117714346 117714346 + Intron SNP C G G rs1535330 by1000genomes 2011-2334:2012-1339-T g.chr6:117714346C>G uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 ROS1 6098 broad.mit.edu 37 6 117718303 117718303 + Intron SNP A G G rs9401003 by1000genomes 2011-2334:2012-1339-T g.chr6:117718303A>G uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 ROS1 6098 broad.mit.edu 37 6 117724462 117724462 + Intron SNP C A A rs2243379 by1000genomes 2011-2334:2012-1339-T g.chr6:117724462C>A uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 ROS1 6098 broad.mit.edu 37 6 117724499 117724499 + Intron SNP A C C rs1407179 byFrequency;by1000genomes 2011-2334:2012-1339-T g.chr6:117724499A>C uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 ROS1 6098 broad.mit.edu 37 6 117725622 117725622 + Intron SNP G A A rs2243377 byFrequency;by1000genomes 2011-2334:2012-1339-T g.chr6:117725622G>A uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 ROS1 6098 broad.mit.edu 37 6 117730592 117730592 + Intron SNP G A A rs2273602 by1000genomes 2011-2334:2012-1339-T g.chr6:117730592G>A uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 ROS1 6098 broad.mit.edu 37 6 117730899 117730899 + Intron SNP T G G rs2243375 by1000genomes 2011-2334:2012-1339-T g.chr6:117730899T>G uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 SYNE1 23345 broad.mit.edu 37 6 152958461 152958461 + 5'UTR SNP G A A rs9478345 by1000genomes 2011-2334:2012-1339-T g.chr6:152958461G>A uc010kiw.2 - 1 SYNE1_uc003qot.3_5'Flank|SYNE1_uc003qou.3_5'UTR|SYNE1_uc010kjb.1_5'Flank NM_182961 NP_892006 PARK2 5071 broad.mit.edu 37 6 161990483 161990483 + Intron SNP C T T rs3765474 by1000genomes 2011-2334:2012-1339-T g.chr6:161990483C>T uc003qtx.3 - PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Intron|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Intron|PARK2_uc011egf.1_Intron NM_004562 NP_004553 RPS6KA2 6196 broad.mit.edu 37 6 166863724 166863724 + Intron SNP C T T rs28737237 by1000genomes 2011-2334:2012-1339-T g.chr6:166863724C>T uc003qvb.1 - RPS6KA2_uc011ego.1_Intron|RPS6KA2_uc010kkl.1_Intron|RPS6KA2_uc003qvc.1_Intron|RPS6KA2_uc003qvd.1_Intron NM_021135 NP_066958 MAD1L1 8379 broad.mit.edu 37 7 1910110 1910110 + Intron SNP T C C rs71523270 by1000genomes 2011-2334:2012-1339-T g.chr7:1910110T>C uc003slh.1 - MAD1L1_uc003sle.1_Intron|MAD1L1_uc003slf.1_Intron|MAD1L1_uc003slg.1_Intron|MAD1L1_uc010ksh.1_Intron|MAD1L1_uc003sli.1_Intron|MAD1L1_uc003sld.1_Intron NM_001013836 NP_001013858 PKD1L1 168507 broad.mit.edu 37 7 47886707 47886707 + Intron SNP G A A rs10280228 by1000genomes 2011-2334:2012-1339-T g.chr7:47886707G>A uc003tny.1 - NM_138295 NP_612152 PKD1L1 168507 broad.mit.edu 37 7 47976357 47976357 + Intron SNP A T T rs36101306 by1000genomes 2011-2334:2012-1339-T g.chr7:47976357A>T uc003tny.1 - NM_138295 NP_612152 ZNF804B 219578 broad.mit.edu 37 7 88389420 88389420 + Intron SNP A G G rs1858848 by1000genomes 2011-2334:2012-1339-T g.chr7:88389420A>G uc011khi.1 + NM_181646 NP_857597 SRPK2 6733 broad.mit.edu 37 7 104800939 104800939 + Intron SNP C T T rs4730071 by1000genomes 2011-2334:2012-1339-T g.chr7:104800939C>T uc003vct.2 - SRPK2_uc003vcu.2_Intron|SRPK2_uc003vcv.2_Intron|SRPK2_uc003vcw.1_Intron NM_182691 NP_872633 PIK3CG 5294 broad.mit.edu 37 7 106523446 106523446 + Intron SNP A G G rs849397 by1000genomes 2011-2334:2012-1339-T g.chr7:106523446A>G uc003vdv.3 + PIK3CG_uc003vdu.2_Intron|PIK3CG_uc003vdw.2_Intron NM_002649 NP_002640 GRM8 2918 broad.mit.edu 37 7 126410171 126410171 + Intron SNP G C C rs35648111 by1000genomes 2011-2334:2012-1339-T g.chr7:126410171G>C uc003vlr.2 - GRM8_uc003vls.2_Intron|GRM8_uc011kof.1_Intron|GRM8_uc003vlt.2_Intron|GRM8_uc010lkz.1_Intron|GRM8_uc003vlu.1_Intron NM_000845 NP_000836 RIMS2 9699 broad.mit.edu 37 8 104709594 104709594 + Intron SNP A G G rs1176674 by1000genomes 2011-2334:2012-1339-T g.chr8:104709594A>G uc003ylp.2 + NM_001100117 NP_001093587 KCNQ3 3786 broad.mit.edu 37 8 133200104 133200104 + Intron SNP G A A rs112359919 by1000genomes 2011-2334:2012-1339-T g.chr8:133200104G>A uc003ytj.2 - KCNQ3_uc010mdt.2_Intron NM_004519 NP_004510 TRAPPC9 83696 broad.mit.edu 37 8 141126957 141126957 + Intron SNP T G G rs112321743 by1000genomes 2011-2334:2012-1339-T g.chr8:141126957T>G uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 MTAP 4507 broad.mit.edu 37 9 22009698 22009698 + Intron SNP G C C rs2069418 by1000genomes 2011-2334:2012-1339-T g.chr9:22009698G>C uc003zpi.1 + CDKN2BAS_uc010miw.1_Intron|CDKN2BAS_uc010mix.1_Intron|CDKN2BAS_uc003zpm.2_Intron|CDKN2B_uc003zpn.2_5'Flank|CDKN2B_uc003zpo.2_5'Flank NM_002451 NP_002442 GPR107 57720 broad.mit.edu 37 9 132897231 132897231 + Intron SNP G A A rs1003416 by1000genomes 2011-2334:2012-1339-T g.chr9:132897231G>A uc004bze.2 + GPR107_uc004bzc.3_Intron|GPR107_uc011mbx.1_Intron|GPR107_uc004bzd.2_Intron|GPR107_uc004bzg.1_Intron NM_001136557 NP_001130029 TSC1 7248 broad.mit.edu 37 9 135776034 135776034 + Intron SNP C T T rs1076160 by1000genomes 2011-2334:2012-1339-T g.chr9:135776034C>T uc004cca.2 - TSC1_uc004ccb.3_Intron|TSC1_uc011mcq.1_Intron|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 NOTCH1 4851 broad.mit.edu 37 9 139400406 139400406 + Intron SNP C T T rs11145764 by1000genomes 2011-2334:2012-1339-T g.chr9:139400406C>T uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139400904 139400904 + Intron SNP C T T rs4880098 by1000genomes 2011-2334:2012-1339-T g.chr9:139400904C>T uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139401577 139401577 + Intron SNP C G G rs3829116 by1000genomes 2011-2334:2012-1339-T g.chr9:139401577C>G uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139402663 139402663 + Intron SNP T C C rs3124597 by1000genomes 2011-2334:2012-1339-T g.chr9:139402663T>C uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139402908 139402908 + Intron SNP T C C rs3812603 by1000genomes 2011-2334:2012-1339-T g.chr9:139402908T>C uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139403268 139403268 + Intron SNP T C C rs3125000 by1000genomes 2011-2334:2012-1339-T g.chr9:139403268T>C uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139403554 139403554 + Intron SNP T C C rs3124598 by1000genomes 2011-2334:2012-1339-T g.chr9:139403554T>C uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 GPR174 84636 broad.mit.edu 37 X 78426293 78426293 + 5'Flank SNP C A A rs3827441 by1000genomes 2011-2334:2012-1339-T g.chrX:78426293C>A uc004edg.1 + NM_032553 NP_115942 GPR174 84636 broad.mit.edu 37 X 78426471 78426471 + 5'UTR SNP C T T rs3810712 by1000genomes 2011-2334:2012-1339-T g.chrX:78426471C>T uc004edg.1 + 1 NM_032553 NP_115942 GPR174 84636 broad.mit.edu 37 X 78426488 78426488 + 5'UTR SNP T C C rs3810711 by1000genomes 2011-2334:2012-1339-T g.chrX:78426488T>C uc004edg.1 + 1 NM_032553 NP_115942 HDX 139324 broad.mit.edu 37 X 83757817 83757817 + 5'Flank SNP G A A rs2294339 by1000genomes 2011-2334:2012-1339-T g.chrX:83757817G>A uc004eek.1 - HDX_uc011mqv.1_5'Flank|HDX_uc004eel.1_5'Flank NM_144657 NP_653258 BCORL1 63035 broad.mit.edu 37 X 129186012 129186012 + Intron SNP C T T rs12388749 by1000genomes 2011-2334:2012-1339-T g.chrX:129186012C>T uc004evb.1 + BCORL1_uc004evc.1_Intron NM_021946 NP_068765 ASH1L 55870 broad.mit.edu 37 1 155447986 155447986 + Silent SNP G T T 2011-2335:2012-1340-T g.chr1:155447986G>T uc009wqq.2 - 3 5155 c.4675C>A c.(4675-4677)CGA>AGA p.R1559R ASH1L_uc001fkt.2_Silent_p.R1559R|ASH1L_uc009wqr.1_Silent_p.R1559R NM_018489 NP_060959 LMX1A 4009 broad.mit.edu 37 1 165173195 165173195 + Silent SNP T C C 2011-2335:2012-1340-T g.chr1:165173195T>C uc001gcy.1 - 8 1292 c.1071A>G c.(1069-1071)GAA>GAG p.E357E LMX1A_uc001gcz.1_Silent_p.E357E|LMX1A_uc001gcw.1_Silent_p.E75E|LMX1A_uc001gcx.1_Silent_p.E108E NM_177398 NP_796372 USH2A 7399 broad.mit.edu 37 1 216221932 216221932 + Missense_Mutation SNP G A A 2011-2335:2012-1340-T g.chr1:216221932G>A uc001hku.1 - 31 6494 c.6107C>T c.(6106-6108)ACT>ATT p.T2036I NM_206933 NP_996816 PCDH15 65217 broad.mit.edu 37 10 55782726 55782726 + Missense_Mutation SNP C A A 2011-2335:2012-1340-T g.chr10:55782726C>A uc001jju.1 - 19 2847 c.2452G>T c.(2452-2454)GTG>TTG p.V818L PCDH15_uc010qhq.1_Missense_Mutation_p.V823L|PCDH15_uc010qhr.1_Missense_Mutation_p.V818L|PCDH15_uc010qhs.1_Missense_Mutation_p.V830L|PCDH15_uc010qht.1_Missense_Mutation_p.V825L|PCDH15_uc010qhu.1_Missense_Mutation_p.V818L|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.V818L|PCDH15_uc010qhw.1_Missense_Mutation_p.V781L|PCDH15_uc010qhx.1_Missense_Mutation_p.V747L|PCDH15_uc010qhy.1_Missense_Mutation_p.V823L|PCDH15_uc010qhz.1_Missense_Mutation_p.V818L|PCDH15_uc010qia.1_Missense_Mutation_p.V796L|PCDH15_uc010qib.1_Missense_Mutation_p.V796L|PCDH15_uc001jjw.2_Missense_Mutation_p.V818L NM_033056 NP_149045 GRID1 2894 broad.mit.edu 37 10 87484083 87484083 + Intron SNP C T T 2011-2335:2012-1340-T g.chr10:87484083C>T uc001kdl.1 - GRID1_uc009xsu.1_Intron|GRID1_uc010qmf.1_Intron NM_017551 NP_060021 GRID1 2894 broad.mit.edu 37 10 87614394 87614394 + Intron SNP C A A 2011-2335:2012-1340-T g.chr10:87614394C>A uc001kdl.1 - GRID1_uc009xsu.1_Intron NM_017551 NP_060021 MAML2 84441 broad.mit.edu 37 11 96076278 96076278 + 5'UTR SNP G A A 2011-2335:2012-1340-T g.chr11:96076278G>A uc001pfw.1 - 1 NM_032427 NP_115803 VWA5A 4013 broad.mit.edu 37 11 124013200 124013200 + Missense_Mutation SNP G T T 2011-2335:2012-1340-T g.chr11:124013200G>T uc001pzu.2 + 17 2284 c.2075G>T c.(2074-2076)GGT>GTT p.G692V VWA5A_uc001pzt.2_Missense_Mutation_p.G692V NM_001130142 NP_001123614 RIMBP2 23504 broad.mit.edu 37 12 130941125 130941125 + Missense_Mutation SNP C T T 2011-2335:2012-1340-T g.chr12:130941125C>T uc001uil.2 - 4 387 c.223G>A c.(223-225)GCG>ACG p.A75T RIMBP2_uc001uim.2_5'UTR NM_015347 NP_056162 FLT3 2322 broad.mit.edu 37 13 28609825 28609825 + Intron SNP A G G rs2491227 by1000genomes 2011-2335:2012-1340-T g.chr13:28609825A>G uc001urw.2 - FLT3_uc010aao.2_Intron|FLT3_uc010tdn.1_Intron NM_004119 NP_004110 MYH11 4629 broad.mit.edu 37 16 15797954 15797954 + Missense_Mutation SNP G A A 2011-2335:2012-1340-T g.chr16:15797954G>A uc002ddy.2 - 41 5920 c.5813C>T c.(5812-5814)CCT>CTT p.P1938L MYH11_uc002ddv.2_3'UTR|MYH11_uc002ddw.2_3'UTR|MYH11_uc002ddx.2_Missense_Mutation_p.P1945L|MYH11_uc010bvg.2_3'UTR|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron NM_002474 NP_002465 TP53 7157 broad.mit.edu 37 17 7579373 7579373 + Missense_Mutation SNP C A A 2011-2335:2012-1340-T g.chr17:7579373C>A uc002gim.2 - 4 508 c.314G>T c.(313-315)GGC>GTC p.G105V TP53_uc002gig.1_Missense_Mutation_p.G105V|TP53_uc002gih.2_Missense_Mutation_p.G105V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.G105V|TP53_uc010cni.1_Missense_Mutation_p.G105V|TP53_uc002gij.2_Missense_Mutation_p.G105V|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.G66V|TP53_uc010cnk.1_Missense_Mutation_p.G120V NM_001126112 NP_001119584 ABCA8 10351 broad.mit.edu 37 17 66883260 66883260 + Silent SNP A G G 2011-2335:2012-1340-T g.chr17:66883260A>G uc002jhp.2 - 24 3386 c.3207T>C c.(3205-3207)GCT>GCC p.A1069A ABCA8_uc002jhq.2_Silent_p.A1109A|ABCA8_uc010wqq.1_Silent_p.A1109A|ABCA8_uc010wqr.1_Silent_p.A1048A NM_007168 NP_009099 DCC 1630 broad.mit.edu 37 18 49866103 49866103 + 5'Flank SNP A T T 2011-2335:2012-1340-T g.chr18:49866103A>T uc002lfe.1 + NM_005215 NP_005206 TTN 7273 broad.mit.edu 37 2 179456430 179456430 + Missense_Mutation SNP C A A 2011-2335:2012-1340-T g.chr2:179456430C>A uc010zfg.1 - 252 52636 c.52412G>T c.(52411-52413)GGA>GTA p.G17471V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G11166V|TTN_uc010zfi.1_Missense_Mutation_p.G11099V|TTN_uc010zfj.1_Missense_Mutation_p.G10974V NM_133378 NP_596869 STAT1 6772 broad.mit.edu 37 2 191864166 191864166 + Intron SNP C A A 2011-2335:2012-1340-T g.chr2:191864166C>A uc002usj.2 - STAT1_uc010fse.1_Intron|STAT1_uc002usk.2_Intron|STAT1_uc002usl.2_Intron|STAT1_uc010fsf.1_Intron NM_007315 NP_009330 MAP2 4133 broad.mit.edu 37 2 210559661 210559661 + Nonsense_Mutation SNP G T T rs142105837 2011-2335:2012-1340-T g.chr2:210559661G>T uc002vde.1 + 7 3015 c.2767G>T c.(2767-2769)GGA>TGA p.G923* MAP2_uc002vdc.1_Nonsense_Mutation_p.G923*|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Nonsense_Mutation_p.G919* NM_002374 NP_002365 MAP2 4133 broad.mit.edu 37 2 210595804 210595804 + 3'UTR SNP T C C 2011-2335:2012-1340-T g.chr2:210595804T>C uc002vde.1 + 15 MAP2_uc002vdd.1_3'UTR|MAP2_uc002vdf.1_3'UTR|MAP2_uc002vdg.1_3'UTR|MAP2_uc002vdh.1_3'UTR|MAP2_uc002vdi.1_3'UTR NM_002374 NP_002365 MAP2 4133 broad.mit.edu 37 2 210595864 210595864 + 3'UTR SNP C G G 2011-2335:2012-1340-T g.chr2:210595864C>G uc002vde.1 + 15 MAP2_uc002vdd.1_3'UTR|MAP2_uc002vdf.1_3'UTR|MAP2_uc002vdg.1_3'UTR|MAP2_uc002vdh.1_3'UTR|MAP2_uc002vdi.1_3'UTR NM_002374 NP_002365 EFCAB6 64800 broad.mit.edu 37 22 44011784 44011784 + Silent SNP C T T rs149447547 byFrequency 2011-2335:2012-1340-T g.chr22:44011784C>T uc003bdy.1 - 21 2699 c.2484G>A c.(2482-2484)GCG>GCA p.A828A EFCAB6_uc003bdz.1_Silent_p.A676A|EFCAB6_uc010gzi.1_Silent_p.A676A|EFCAB6_uc010gzj.1_Intron NM_022785 NP_073622 CCR2 729230 broad.mit.edu 37 3 46399691 46399691 + Missense_Mutation SNP A G G 2011-2335:2012-1340-T g.chr3:46399691A>G uc003cpn.3 + 2 1158 c.673A>G c.(673-675)ATC>GTC p.I225V CCR2_uc003cpm.3_Missense_Mutation_p.I225V NM_001123041 NP_001116513 MUC4 4585 broad.mit.edu 37 3 195502776 195502776 + Intron SNP C G G 2011-2335:2012-1340-T g.chr3:195502776C>G uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 FAT4 79633 broad.mit.edu 37 4 126241609 126241609 + Missense_Mutation SNP C T T 2011-2335:2012-1340-T g.chr4:126241609C>T uc003ifj.3 + 1 4043 c.4043C>T c.(4042-4044)GCT>GTT p.A1348V NM_024582 NP_078858 FAT4 79633 broad.mit.edu 37 4 126370837 126370837 + Missense_Mutation SNP C G G 2011-2335:2012-1340-T g.chr4:126370837C>G uc003ifj.3 + 9 8666 c.8666C>G c.(8665-8667)TCC>TGC p.S2889C FAT4_uc011cgp.1_Missense_Mutation_p.S1187C|FAT4_uc003ifi.1_Missense_Mutation_p.S367C NM_024582 NP_078858 CDH9 1007 broad.mit.edu 37 5 26890582 26890582 + Missense_Mutation SNP C G G 2011-2335:2012-1340-T g.chr5:26890582C>G uc003jgs.1 - 8 1514 c.1345G>C c.(1345-1347)GAA>CAA p.E449Q CDH9_uc011cnv.1_Missense_Mutation_p.E42Q NM_016279 NP_057363 ADAMTS12 81792 broad.mit.edu 37 5 33596124 33596124 + Missense_Mutation SNP C A A 2011-2335:2012-1340-T g.chr5:33596124C>A uc003jia.1 - 17 2732 c.2569G>T c.(2569-2571)GGG>TGG p.G857W ADAMTS12_uc010iuq.1_Missense_Mutation_p.G772W NM_030955 NP_112217 VARS 7407 broad.mit.edu 37 6 31760155 31760155 + Intron SNP C G G rs56214984 2011-2335:2012-1340-T g.chr6:31760155C>G uc003nxe.2 - VARS_uc011doi.1_Intron NM_006295 NP_006286 PKHD1 5314 broad.mit.edu 37 6 51612763 51612763 + Silent SNP G A A 2011-2335:2012-1340-T g.chr6:51612763G>A uc003pah.1 - 58 9927 c.9651C>T c.(9649-9651)GAC>GAT p.D3217D PKHD1_uc010jzn.1_Silent_p.D1200D|PKHD1_uc003pai.2_Silent_p.D3217D NM_138694 NP_619639 EPHA7 2045 broad.mit.edu 37 6 93969258 93969258 + Intron SNP C A A 2011-2335:2012-1340-T g.chr6:93969258C>A uc003poe.2 - EPHA7_uc003pof.2_Intron|EPHA7_uc011eac.1_Intron NM_004440 NP_004431 SYNE1 23345 broad.mit.edu 37 6 152470801 152470801 + Silent SNP G A A 2011-2335:2012-1340-T g.chr6:152470801G>A uc010kiw.2 - 136 25055 c.24453C>T c.(24451-24453)GCC>GCT p.A8151A SYNE1_uc010kiv.2_Silent_p.A2675A|SYNE1_uc003qos.3_Silent_p.A2675A|SYNE1_uc003qot.3_Silent_p.A8080A|SYNE1_uc003qou.3_Silent_p.A8151A|SYNE1_uc003qop.3_Silent_p.A313A|SYNE1_uc011eez.1_Silent_p.A353A|SYNE1_uc003qoq.3_Silent_p.A353A|SYNE1_uc003qor.3_Silent_p.A1051A NM_182961 NP_892006 EXOC4 60412 broad.mit.edu 37 7 132937802 132937802 + 5'Flank SNP C A A 2011-2335:2012-1340-T g.chr7:132937802C>A uc003vrk.2 + EXOC4_uc011kpo.1_5'Flank|EXOC4_uc003vri.2_5'Flank|EXOC4_uc003vrj.2_5'Flank NM_021807 NP_068579 ZFHX4 79776 broad.mit.edu 37 8 77766283 77766283 + Missense_Mutation SNP G T T 2011-2335:2012-1340-T g.chr8:77766283G>T uc003yav.2 + 10 7378 c.6991G>T c.(6991-6993)GCT>TCT p.A2331S ZFHX4_uc003yau.1_Missense_Mutation_p.A2376S|ZFHX4_uc003yaw.1_Missense_Mutation_p.A2331S NM_024721 NP_078997 RIMS2 9699 broad.mit.edu 37 8 104955086 104955086 + Missense_Mutation SNP T A A 2011-2335:2012-1340-T g.chr8:104955086T>A uc003yls.2 + 12 2208 c.1967T>A c.(1966-1968)CTT>CAT p.L656H RIMS2_uc003ylp.2_Missense_Mutation_p.L878H|RIMS2_uc003ylw.2_Missense_Mutation_p.L670H|RIMS2_uc003ylq.2_Missense_Mutation_p.L670H|RIMS2_uc003ylr.2_Missense_Mutation_p.L717H|RIMS2_uc003ylt.2_Missense_Mutation_p.L263H NM_014677 NP_055492 CSMD3 114788 broad.mit.edu 37 8 113249649 113249649 + Intron SNP T C C 2011-2335:2012-1340-T g.chr8:113249649T>C uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 114389372 114389372 + Intron SNP C A A 2011-2335:2012-1340-T g.chr8:114389372C>A uc003ynu.2 - CSMD3_uc003ynt.2_5'UTR|CSMD3_uc011lhx.1_Intron|CSMD3_uc010mcx.1_Intron|CSMD3_uc003ynx.3_Intron NM_198123 NP_937756 ZFP41 286128 broad.mit.edu 37 8 144342309 144342309 + 3'UTR SNP C T T 2011-2335:2012-1340-T g.chr8:144342309C>T uc003yxw.2 + 3 ZFP41_uc003yxv.2_Intron NM_173832 NP_776193 CDKN2A 1029 broad.mit.edu 37 9 21971017 21971017 + Missense_Mutation SNP G T T rs121913386 2011-2335:2012-1340-T g.chr9:21971017G>T uc003zpk.2 - 2 553 c.341C>A c.(340-342)CCC>CAC p.P114H MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.A169A NM_000077 NP_000068 ASMTL 8623 broad.mit.edu 37 X 1572119 1572119 + 5'Flank SNP C T T 2011-2335:2012-1340-T g.chrX:1572119C>T uc004cpx.1 - ASMTL_uc011mhe.1_5'Flank|ASMTL_uc004cpy.1_5'Flank|ASMTL_uc011mhf.1_Intron NM_004192 NP_004183 ODZ1 10178 broad.mit.edu 37 X 123540296 123540296 + Nonsense_Mutation SNP C A A 2011-2335:2012-1340-T g.chrX:123540296C>A uc004euj.2 - 25 5069 c.5005G>T c.(5005-5007)GGA>TGA p.G1669* ODZ1_uc011muj.1_Nonsense_Mutation_p.G1675*|ODZ1_uc010nqy.2_Nonsense_Mutation_p.G1676* NM_014253 NP_055068 PANK4 55229 broad.mit.edu 37 1 2442831 2442831 + Intron SNP G T T 2011-2336:2012-335-T g.chr1:2442831G>T uc001ajm.1 - PANK4_uc010nza.1_Intron NM_018216 NP_060686 EPHA2 1969 broad.mit.edu 37 1 16460840 16460840 + Intron SNP G A A rs6603856 by1000genomes 2011-2336:2012-335-T g.chr1:16460840G>A uc001aya.1 - NM_004431 NP_004422 EPHA2 1969 broad.mit.edu 37 1 16464590 16464590 + Missense_Mutation SNP C T T 2011-2336:2012-335-T g.chr1:16464590C>T uc001aya.1 - 5 1207 c.1070G>A c.(1069-1071)CGC>CAC p.R357H EPHA2_uc010oca.1_Missense_Mutation_p.R357H NM_004431 NP_004422 NOTCH2 4853 broad.mit.edu 37 1 120471857 120471857 + Intron SNP C T T rs2493392 by1000genomes 2011-2336:2012-335-T g.chr1:120471857C>T uc001eik.2 - NM_024408 NP_077719 NOTCH2 4853 broad.mit.edu 37 1 120506108 120506108 + Intron SNP G A A rs2934381 by1000genomes 2011-2336:2012-335-T g.chr1:120506108G>A uc001eik.2 - NOTCH2_uc001eil.2_Intron|NOTCH2_uc001eim.3_Intron NM_024408 NP_077719 DDR2 4921 broad.mit.edu 37 1 162723162 162723162 + Intron SNP T C C rs881127 by1000genomes 2011-2336:2012-335-T g.chr1:162723162T>C uc001gcf.2 + DDR2_uc001gcg.2_Intron NM_001014796 NP_001014796 FAM5B 57795 broad.mit.edu 37 1 177140334 177140334 + 5'Flank SNP C G G 2011-2336:2012-335-T g.chr1:177140334C>G uc001glf.2 + NM_021165 NP_066988 ADARB2 105 broad.mit.edu 37 10 1502955 1502955 + Intron SNP A T T rs113092512 2011-2336:2012-335-T g.chr10:1502955A>T uc009xhq.2 - NM_018702 NP_061172 PCDH15 65217 broad.mit.edu 37 10 55892647 55892647 + Missense_Mutation SNP T A A 2011-2336:2012-335-T g.chr10:55892647T>A uc001jju.1 - 15 2300 c.1905A>T c.(1903-1905)TTA>TTT p.L635F PCDH15_uc010qhq.1_Missense_Mutation_p.L640F|PCDH15_uc010qhr.1_Missense_Mutation_p.L635F|PCDH15_uc010qhs.1_Missense_Mutation_p.L647F|PCDH15_uc010qht.1_Missense_Mutation_p.L642F|PCDH15_uc010qhu.1_Missense_Mutation_p.L635F|PCDH15_uc001jjv.1_Missense_Mutation_p.L613F|PCDH15_uc010qhv.1_Missense_Mutation_p.L635F|PCDH15_uc010qhw.1_Missense_Mutation_p.L598F|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhy.1_Missense_Mutation_p.L640F|PCDH15_uc010qhz.1_Missense_Mutation_p.L635F|PCDH15_uc010qia.1_Missense_Mutation_p.L613F|PCDH15_uc010qib.1_Missense_Mutation_p.L613F|PCDH15_uc001jjw.2_Missense_Mutation_p.L635F NM_033056 NP_149045 NRAP 4892 broad.mit.edu 37 10 115423644 115423644 + 5'UTR SNP C G G 2011-2336:2012-335-T g.chr10:115423644C>G uc001laj.2 - 1 NRAP_uc001lak.2_5'UTR|NRAP_uc001lal.3_5'UTR NM_198060 NP_932326 FANCF 2188 broad.mit.edu 37 11 22646688 22646688 + Silent SNP T C C 2011-2336:2012-335-T g.chr11:22646688T>C uc001mql.1 - 1 700 c.669A>G c.(667-669)GAA>GAG p.E223E NM_022725 NP_073562 ELP4 26610 broad.mit.edu 37 11 31648596 31648596 + Intron SNP G C C 2011-2336:2012-335-T g.chr11:31648596G>C uc001mtb.2 + ELP4_uc001mta.1_Intron|ELP4_uc001mtc.2_Intron|ELP4_uc010rdz.1_Intron NM_019040 NP_061913 KRAS 3845 broad.mit.edu 37 12 25362552 25362552 + 3'UTR SNP A C C rs712 by1000genomes 2011-2336:2012-335-T g.chr12:25362552A>C uc001rgp.1 - 6 KRAS_uc001rgq.1_3'UTR NM_033360 NP_203524 FLT3 2322 broad.mit.edu 37 13 28610129 28610129 + Missense_Mutation SNP G A A 2011-2336:2012-335-T g.chr13:28610129G>A uc001urw.2 - 11 1443 c.1361C>T c.(1360-1362)TCG>TTG p.S454L FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.S454L NM_004119 NP_004110 ATP11A 23250 broad.mit.edu 37 13 113527683 113527683 + Intron SNP G A A rs61961612 by1000genomes 2011-2336:2012-335-T g.chr13:113527683G>A uc001vsi.3 + ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_Intron NM_015205 NP_056020 TMCO3 55002 broad.mit.edu 37 13 114151521 114151521 + Intron SNP G T T rs2260289 by1000genomes 2011-2336:2012-335-T g.chr13:114151521G>T uc001vtu.3 + TMCO3_uc001vtt.3_Intron NM_017905 NP_060375 FAM179B 23116 broad.mit.edu 37 14 45433245 45433245 + Missense_Mutation SNP A G G 2011-2336:2012-335-T g.chr14:45433245A>G uc001wvv.2 + 1 1830 c.1621A>G c.(1621-1623)ATG>GTG p.M541V FAM179B_uc001wvw.2_Missense_Mutation_p.M541V|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.M541V|FAM179B_uc001wvu.2_Missense_Mutation_p.M541V NM_015091 NP_055906 SYNE2 23224 broad.mit.edu 37 14 64444876 64444876 + Intron SNP G A A rs1255896 by1000genomes 2011-2336:2012-335-T g.chr14:64444876G>A uc001xgm.2 + SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64568894 64568895 + Intron DNP GT AC AC rs12589702 by1000genomes 2011-2336:2012-335-T g.chr14:64568894_64568895GT>AC uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc010apz.1_Intron NM_015180 NP_055995 LMF1 64788 broad.mit.edu 37 16 1000067 1000067 + Intron SNP C G G 2011-2336:2012-335-T g.chr16:1000067C>G uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 1000081 1000081 + Intron SNP A C C 2011-2336:2012-335-T g.chr16:1000081A>C uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 TP53 7157 broad.mit.edu 37 17 7578550 7578550 + Missense_Mutation SNP G T T 2011-2336:2012-335-T g.chr17:7578550G>T uc002gim.2 - 5 574 c.380C>A c.(379-381)TCC>TAC p.S127Y TP53_uc002gig.1_Missense_Mutation_p.S127Y|TP53_uc002gih.2_Missense_Mutation_p.S127Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.S127Y|TP53_uc010cni.1_Missense_Mutation_p.S127Y|TP53_uc002gij.2_Missense_Mutation_p.S127Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.S34Y|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.S88Y NM_001126112 NP_001119584 TP53 7157 broad.mit.edu 37 17 7580941 7580941 + Intron SNP C T T rs9897559 by1000genomes 2011-2336:2012-335-T g.chr17:7580941C>T uc002gim.2 - TP53_uc002gig.1_5'Flank|TP53_uc002gih.2_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Intron|TP53_uc010cni.1_Intron|TP53_uc002gij.2_Intron|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Intron|TP53_uc010cnk.1_Intron NM_001126112 NP_001119584 RPTOR 57521 broad.mit.edu 37 17 78722635 78722635 + Intron SNP G A A 2011-2336:2012-335-T g.chr17:78722635G>A uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 RPTOR 57521 broad.mit.edu 37 17 78722639 78722639 + Intron SNP C T T 2011-2336:2012-335-T g.chr17:78722639C>T uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 MC2R 4158 broad.mit.edu 37 18 13887328 13887328 + Intron SNP C G G 2011-2336:2012-335-T g.chr18:13887328C>G uc002ksp.1 - NM_000529 NP_000520 SETBP1 26040 broad.mit.edu 37 18 42531364 42531364 + Missense_Mutation SNP A C C 2011-2336:2012-335-T g.chr18:42531364A>C uc010dni.2 + 4 2355 c.2059A>C c.(2059-2061)AGC>CGC p.S687R NM_015559 NP_056374 BRD4 23476 broad.mit.edu 37 19 15366207 15366207 + Missense_Mutation SNP C T T 2011-2336:2012-335-T g.chr19:15366207C>T uc002nar.2 - 10 2170 c.1948G>A c.(1948-1950)GAC>AAC p.D650N BRD4_uc002nas.2_Missense_Mutation_p.D650N|BRD4_uc002nat.3_Missense_Mutation_p.D650N NM_058243 NP_490597 DYRK1B 9149 broad.mit.edu 37 19 40325016 40325016 + 5'Flank SNP T C C rs2072290 by1000genomes 2011-2336:2012-335-T g.chr19:40325016T>C uc002omj.2 - DYRK1B_uc002omi.2_5'Flank|DYRK1B_uc002omk.2_5'Flank|DYRK1B_uc002oml.2_5'Flank NM_004714 NP_004705 RMND5A 64795 broad.mit.edu 37 2 87634107 87634107 + Intron SNP C T T rs148175359 2011-2336:2012-335-T g.chr2:87634107C>T uc002srs.3 + LRP1B 53353 broad.mit.edu 37 2 141004513 141004513 + Intron SNP C T T rs11895946 by1000genomes 2011-2336:2012-335-T g.chr2:141004513C>T uc002tvj.1 - NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141460206 141460206 + Intron SNP A T T 2011-2336:2012-335-T g.chr2:141460206A>T uc002tvj.1 - NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141773307 141773307 + Silent SNP G A A 2011-2336:2012-335-T g.chr2:141773307G>A uc002tvj.1 - 13 3120 c.2148C>T c.(2146-2148)TAC>TAT p.Y716Y LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 TTN 7273 broad.mit.edu 37 2 179425563 179425563 + Silent SNP C T T 2011-2336:2012-335-T g.chr2:179425563C>T uc010zfg.1 - 275 77816 c.77592G>A c.(77590-77592)CTG>CTA p.L25864L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L19559L|TTN_uc010zfi.1_Silent_p.L19492L|TTN_uc010zfj.1_Silent_p.L19367L NM_133378 NP_596869 STAT1 6772 broad.mit.edu 37 2 191850566 191850566 + Intron SNP T C C rs2280233 by1000genomes 2011-2336:2012-335-T g.chr2:191850566T>C uc002usj.2 - STAT1_uc010fse.1_Intron|STAT1_uc002usk.2_Intron|STAT1_uc002usl.2_Intron|STAT1_uc010fsf.1_Intron NM_007315 NP_009330 ARFGEF2 10564 broad.mit.edu 37 20 47601377 47601377 + Silent SNP C T T 2011-2336:2012-335-T g.chr20:47601377C>T uc002xtx.3 + 15 2222 c.2070C>T c.(2068-2070)TCC>TCT p.S690S ARFGEF2_uc010zyf.1_5'UTR NM_006420 NP_006411 TGFBR2 7048 broad.mit.edu 37 3 30732700 30732700 + Intron SNP G C C rs9831664 by1000genomes 2011-2336:2012-335-T g.chr3:30732700G>C uc003ceo.2 + TGFBR2_uc003cen.2_Intron NM_003242 NP_003233 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 2011-2336:2012-335-T g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 MUC4 4585 broad.mit.edu 37 3 195494601 195494601 + Intron SNP C T T 2011-2336:2012-335-T g.chr3:195494601C>T uc011bto.1 - MUC4_uc003fuz.2_Intron|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 FBXW7 55294 broad.mit.edu 37 4 153456102 153456102 + 5'UTR SNP A G G rs1351903 by1000genomes 2011-2336:2012-335-T g.chr4:153456102A>G uc003ims.2 - 1 FBXW7_uc011cii.1_5'UTR|FBXW7_uc003imt.2_5'UTR|FBXW7_uc003imu.2_5'UTR|uc003imv.2_5'Flank NM_033632 NP_361014 FAT1 2195 broad.mit.edu 37 4 187630554 187630554 + Missense_Mutation SNP T A A 2011-2336:2012-335-T g.chr4:187630554T>A uc003izf.2 - 2 616 c.428A>T c.(427-429)AAT>ATT p.N143I FAT1_uc010iso.1_Missense_Mutation_p.N143I NM_005245 NP_005236 TRIO 7204 broad.mit.edu 37 5 14403737 14403737 + Intron SNP G A A 2011-2336:2012-335-T g.chr5:14403737G>A uc003jff.2 + TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Intron NM_007118 NP_009049 FAT2 2196 broad.mit.edu 37 5 150901019 150901019 + Missense_Mutation SNP T G G 2011-2336:2012-335-T g.chr5:150901019T>G uc003lue.3 - 18 11148 c.11135A>C c.(11134-11136)CAT>CCT p.H3712P GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.H405P NM_001447 NP_001438 HLA-F 3134 broad.mit.edu 37 6 29692729 29692729 + Intron SNP T G G rs2072898 by1000genomes 2011-2336:2012-335-T g.chr6:29692729T>G uc010jrl.2 + HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Intron|HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron NM_018950 NP_061823 HLA-G 3135 broad.mit.edu 37 6 29795768 29795768 + Intron SNP T C C rs111794296 2011-2336:2012-335-T g.chr6:29795768T>C uc003nnw.2 + HLA-G_uc011dmb.1_5'Flank|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29796257 29796257 + Intron SNP C T T rs1625035 2011-2336:2012-335-T g.chr6:29796257C>T uc003nnw.2 + HLA-G_uc011dmb.1_Intron|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29798425 29798425 + Intron SNP G T T rs111929453 2011-2336:2012-335-T g.chr6:29798425G>T uc003nnw.2 + HLA-G_uc011dmb.1_Intron|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_Intron NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29798459 29798459 + Intron SNP C G G rs915668 2011-2336:2012-335-T g.chr6:29798459C>G uc003nnw.2 + HLA-G_uc011dmb.1_Intron|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_Intron NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29893848 29893848 + Intron SNP C A A rs74350600 2011-2336:2012-335-T g.chr6:29893848C>A uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HCG4P6_uc003noh.1_5'Flank|uc003noi.2_5'Flank NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29894439 29894439 + Intron SNP A T T rs2517771 2011-2336:2012-335-T g.chr6:29894439A>T uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HCG4P6_uc003noh.1_5'Flank|uc003noi.2_RNA NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29894456 29894456 + Intron SNP T G G rs112546577 2011-2336:2012-335-T g.chr6:29894456T>G uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HCG4P6_uc003noh.1_5'Flank|uc003noi.2_RNA NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29897129 29897129 + Intron SNP C T T rs112094586 2011-2336:2012-335-T g.chr6:29897129C>T uc011dmb.1 + HCG4P6_uc003nog.1_Intron|uc003noi.2_Intron NM_002127 NP_002118 HLA-B 3106 broad.mit.edu 37 6 31323468 31323468 + Intron SNP G T T rs3897530 byFrequency;by1000genomes 2011-2336:2012-335-T g.chr6:31323468G>T uc003nth.2 - HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Intron|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_Intron|HLA-B_uc010jso.2_3'UTR NM_005514 NP_005505 EPHA7 2045 broad.mit.edu 37 6 94124351 94124351 + Intron SNP C T T 2011-2336:2012-335-T g.chr6:94124351C>T uc003poe.2 - EPHA7_uc003pof.2_Intron|EPHA7_uc011eac.1_Intron|EPHA7_uc003pog.3_Intron NM_004440 NP_004431 SYNE1 23345 broad.mit.edu 37 6 152522812 152522812 + Intron SNP T G G rs2673776 by1000genomes 2011-2336:2012-335-T g.chr6:152522812T>G uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152523143 152523143 + Intron SNP G A A rs2635441 by1000genomes 2011-2336:2012-335-T g.chr6:152523143G>A uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152622876 152622876 + Intron SNP T A A rs1010714 by1000genomes 2011-2336:2012-335-T g.chr6:152622876T>A uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kiy.1_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152751558 152751558 + Intron SNP C T T rs553642 by1000genomes 2011-2336:2012-335-T g.chr6:152751558C>T uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qow.2_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152774917 152774917 + Intron SNP A G G rs214973 by1000genomes 2011-2336:2012-335-T g.chr6:152774917A>G uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qow.2_Intron|SYNE1_uc003qox.1_Intron|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Intron NM_182961 NP_892006 SDK1 221935 broad.mit.edu 37 7 4219886 4219886 + Intron SNP G A A rs35685329 by1000genomes 2011-2336:2012-335-T g.chr7:4219886G>A uc003smx.2 + SDK1_uc010kso.2_Intron|SDK1_uc003smy.2_Intron NM_152744 NP_689957 BAZ1B 9031 broad.mit.edu 37 7 72865147 72865147 + Intron SNP C A A 2011-2336:2012-335-T g.chr7:72865147C>A uc003tyc.2 - NM_032408 NP_115784 FOXP2 93986 broad.mit.edu 37 7 114270077 114270077 + Intron SNP T G G rs10227893 by1000genomes 2011-2336:2012-335-T g.chr7:114270077T>G uc003vhb.2 + FOXP2_uc003vgu.2_Intron|FOXP2_uc003vgz.2_Intron|FOXP2_uc003vha.2_Intron|FOXP2_uc011kmu.1_Intron|FOXP2_uc011kmv.1_Intron|FOXP2_uc010ljz.1_Intron|FOXP2_uc003vgt.1_Intron|FOXP2_uc003vgv.1_Intron|FOXP2_uc003vgx.2_Intron|FOXP2_uc003vhd.2_Intron|FOXP2_uc003vhc.2_Intron NM_014491 NP_055306 CAPZA2 830 broad.mit.edu 37 7 116514258 116514258 + Intron SNP A G G 2011-2336:2012-335-T g.chr7:116514258A>G uc003vil.2 + CAPZA2_uc003vik.1_Intron|CAPZA2_uc011knk.1_Intron NM_006136 NP_006127 MLL3 58508 broad.mit.edu 37 7 151877958 151877958 + Silent SNP T C C 2011-2336:2012-335-T g.chr7:151877958T>C uc003wla.2 - 36 7206 c.6987A>G c.(6985-6987)GGA>GGG p.G2329G MLL3_uc003wkz.2_Silent_p.G1390G|MLL3_uc003wky.2_5'Flank NM_170606 NP_733751 UNC5D 137970 broad.mit.edu 37 8 35647971 35647971 + Missense_Mutation SNP C A A 2011-2336:2012-335-T g.chr8:35647971C>A uc003xjr.1 + 17 3080 c.2752C>A c.(2752-2754)CTG>ATG p.L918M UNC5D_uc003xjs.1_Missense_Mutation_p.L913M|UNC5D_uc003xju.1_Missense_Mutation_p.L494M NM_080872 NP_543148 RB1CC1 9821 broad.mit.edu 37 8 53554756 53554756 + Intron SNP T G G rs12114890 by1000genomes 2011-2336:2012-335-T g.chr8:53554756T>G uc003xre.3 - RB1CC1_uc003xrf.3_Intron NM_014781 NP_055596 ZFHX4 79776 broad.mit.edu 37 8 77754975 77754975 + Missense_Mutation SNP A G G 2011-2336:2012-335-T g.chr8:77754975A>G uc003yav.2 + 6 3761 c.3374A>G c.(3373-3375)AAT>AGT p.N1125S ZFHX4_uc003yau.1_Missense_Mutation_p.N1160S|ZFHX4_uc003yaw.1_Missense_Mutation_p.N1125S NM_024721 NP_078997 UBR5 51366 broad.mit.edu 37 8 103283313 103283313 + Intron SNP C T T rs3018508 by1000genomes 2011-2336:2012-335-T g.chr8:103283313C>T uc003ykr.1 - UBR5_uc003yks.1_Intron NM_015902 NP_056986 PKHD1L1 93035 broad.mit.edu 37 8 110432798 110432798 + Missense_Mutation SNP A G G 2011-2336:2012-335-T g.chr8:110432798A>G uc003yne.2 + 23 2680 c.2576A>G c.(2575-2577)GAG>GGG p.E859G NM_177531 NP_803875 CSMD3 114788 broad.mit.edu 37 8 113657602 113657602 + Intron SNP G A A rs7012820 by1000genomes 2011-2336:2012-335-T g.chr8:113657602G>A uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 HUWE1 10075 broad.mit.edu 37 X 53661104 53661104 + Intron SNP T C C 2011-2336:2012-335-T g.chrX:53661104T>C uc004dsp.2 - NM_031407 NP_113584 EPHA2 1969 broad.mit.edu 37 1 16462185 16462185 + Nonsense_Mutation SNP G A A 2011-2337:2012-307-T g.chr1:16462185G>A uc001aya.1 - 6 1530 c.1393C>T c.(1393-1395)CGA>TGA p.R465* EPHA2_uc010oca.1_Nonsense_Mutation_p.R465* NM_004431 NP_004422 NOTCH2 4853 broad.mit.edu 37 1 120484407 120484407 + Intron SNP G A A 2011-2337:2012-307-T g.chr1:120484407G>A uc001eik.2 - NOTCH2_uc001eil.2_Intron NM_024408 NP_077719 LOC200030 200030 broad.mit.edu 37 1 148009647 148009647 + Intron SNP A G G 2011-2337:2012-307-T g.chr1:148009647A>G uc001eqf.2 - LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Intron|NBPF14_uc001eqq.2_Intron|NBPF14_uc010pad.1_Intron|NBPF14_uc001eqs.1_Intron NM_017940 NP_060410 RET 5979 broad.mit.edu 37 10 43623514 43623514 + Intron SNP G A A 2011-2337:2012-307-T g.chr10:43623514G>A uc001jal.2 + NM_020975 NP_066124 AHNAK 79026 broad.mit.edu 37 11 62299824 62299824 + Missense_Mutation SNP C T T 2011-2337:2012-307-T g.chr11:62299824C>T uc001ntl.2 - 5 2365 c.2065G>A c.(2065-2067)GAT>AAT p.D689N AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 ZDHHC20 253832 broad.mit.edu 37 13 21951549 21951549 + Intron SNP A G G 2011-2337:2012-307-T g.chr13:21951549A>G uc001uob.2 - ZDHHC20_uc001uod.2_Intron|ZDHHC20_uc001uoc.2_Intron|ZDHHC20_uc001uoe.2_Intron|ZDHHC20_uc010tcs.1_Intron|uc001uoa.1_5'Flank NM_153251 NP_694983 GPC5 2262 broad.mit.edu 37 13 92408755 92408755 + Intron SNP T A A 2011-2337:2012-307-T g.chr13:92408755T>A uc010tif.1 + NM_004466 NP_004457 RASA3 22821 broad.mit.edu 37 13 114778197 114778197 + Intron SNP T C C rs117851026 by1000genomes 2011-2337:2012-307-T g.chr13:114778197T>C uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron NM_007368 NP_031394 LMF1 64788 broad.mit.edu 37 16 998761 998761 + Intron SNP C T T 2011-2337:2012-307-T g.chr16:998761C>T uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 GEMIN4 50628 broad.mit.edu 37 17 652387 652387 + Intron SNP G A A rs61690792 2011-2337:2012-307-T g.chr17:652387G>A uc002frs.1 - GEMIN4_uc010vqa.1_Intron NM_015721 NP_056536 TP53 7157 broad.mit.edu 37 17 7574018 7574018 + Missense_Mutation SNP G A A 2011-2337:2012-307-T g.chr17:7574018G>A uc002gim.2 - 10 1203 c.1009C>T c.(1009-1011)CGC>TGC p.R337C TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205C|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337C NM_001126112 NP_001119584 MYH1 4619 broad.mit.edu 37 17 10411656 10411656 + Intron SNP A G G 2011-2337:2012-307-T g.chr17:10411656A>G uc002gmo.2 - uc002gml.1_Intron NM_005963 NP_005954 SDK2 54549 broad.mit.edu 37 17 71497005 71497005 + Intron SNP C A A 2011-2337:2012-307-T g.chr17:71497005C>A uc010dfm.2 - NM_001144952 NP_001138424 TPO 7173 broad.mit.edu 37 2 1514895 1514895 + Intron SNP C T T 2011-2337:2012-307-T g.chr2:1514895C>T uc002qww.2 + TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Intron|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron NM_000547 NP_000538 DNMT3A 1788 broad.mit.edu 37 2 25457129 25457129 + 3'UTR SNP C T T 2011-2337:2012-307-T g.chr2:25457129C>T uc002rgc.2 - 23 DNMT3A_uc002rgd.2_3'UTR|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_3'UTR NM_022552 NP_072046 RMND5A 64795 broad.mit.edu 37 2 87641717 87641717 + Intron SNP C A A 2011-2337:2012-307-T g.chr2:87641717C>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87656503 87656503 + Intron SNP G T T rs144665595 by1000genomes 2011-2337:2012-307-T g.chr2:87656503G>T uc002srs.3 + TTN 7273 broad.mit.edu 37 2 179537355 179537355 + Intron SNP G T T 2011-2337:2012-307-T g.chr2:179537355G>T uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_Intron|TTN_uc010frf.1_Intron NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179649163 179649163 + Intron SNP C T T 2011-2337:2012-307-T g.chr2:179649163C>T uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002unb.2_Intron NM_133378 NP_596869 TRPM2 7226 broad.mit.edu 37 21 45837313 45837313 + Intron SNP G A A 2011-2337:2012-307-T g.chr21:45837313G>A uc002zet.1 + TRPM2_uc002zeu.1_Intron|TRPM2_uc002zew.1_Intron|TRPM2_uc010gpt.1_Intron|TRPM2_uc002zex.1_Intron|TRPM2_uc002zey.1_Intron|uc011afe.1_Intron NM_003307 NP_003298 CLTCL1 8218 broad.mit.edu 37 22 19189933 19189933 + Intron SNP G C C rs71184791 2011-2337:2012-307-T g.chr22:19189933G>C uc002zpb.2 - CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Intron|CLTCL1_uc011agt.1_Intron|CLTCL1_uc011agu.1_Intron|CLTCL1_uc010grm.1_Intron|CLTCL1_uc002zpe.2_Intron|CLTCL1_uc002zpd.1_Intron NM_007098 NP_009029 SLC7A14 57709 broad.mit.edu 37 3 170244692 170244692 + Silent SNP G T T 2011-2337:2012-307-T g.chr3:170244692G>T uc003fgz.2 - 2 350 c.34C>A c.(34-36)CGG>AGG p.R12R CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 RELL1 768211 broad.mit.edu 37 4 37606434 37606434 + Intron SNP C G G 2011-2337:2012-307-T g.chr4:37606434C>G uc003gsz.2 - NM_001085399 NP_001078868 TET2 54790 broad.mit.edu 37 4 106190867 106190867 + Missense_Mutation SNP A G G 2011-2337:2012-307-T g.chr4:106190867A>G uc003hxk.2 + 9 4531 c.4145A>G c.(4144-4146)CAC>CGC p.H1382R TET2_uc011cez.1_Missense_Mutation_p.H1403R|TET2_uc003hxj.2_RNA NM_001127208 NP_001120680 SLC10A7 84068 broad.mit.edu 37 4 147207688 147207688 + Intron SNP T C C 2011-2337:2012-307-T g.chr4:147207688T>C uc010ioz.2 - SLC10A7_uc003ikr.2_Intron|SLC10A7_uc010ipa.2_Intron|SLC10A7_uc003iks.2_Intron NM_001029998 NP_001025169 FAT1 2195 broad.mit.edu 37 4 187525110 187525110 + Nonsense_Mutation SNP G A A 2011-2337:2012-307-T g.chr4:187525110G>A uc003izf.2 - 19 10758 c.10570C>T c.(10570-10572)CAG>TAG p.Q3524* NM_005245 NP_005236 FAT1 2195 broad.mit.edu 37 4 187549865 187549865 + Nonsense_Mutation SNP G C C 2011-2337:2012-307-T g.chr4:187549865G>C uc003izf.2 - 8 4564 c.4376C>G c.(4375-4377)TCA>TGA p.S1459* NM_005245 NP_005236 IL6ST 3572 broad.mit.edu 37 5 55259087 55259087 + Intron SNP G A A 2011-2337:2012-307-T g.chr5:55259087G>A uc003jqq.2 - IL6ST_uc010iwb.2_Intron|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Intron|IL6ST_uc003jqr.2_Intron NM_002184 NP_002175 RASA1 5921 broad.mit.edu 37 5 86645117 86645117 + Nonsense_Mutation SNP C T T 2011-2337:2012-307-T g.chr5:86645117C>T uc003kiw.2 + 8 1307 c.1189C>T c.(1189-1191)CAG>TAG p.Q397* RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.Q220*|RASA1_uc011ctv.1_Nonsense_Mutation_p.Q230*|RASA1_uc011ctw.1_Nonsense_Mutation_p.Q231*|RASA1_uc010jaw.2_Nonsense_Mutation_p.Q219* NM_002890 NP_002881 PCDHA9 9752 broad.mit.edu 37 5 140228303 140228303 + Silent SNP C T T 2011-2337:2012-307-T g.chr5:140228303C>T uc003lhu.2 + 1 947 c.223C>T c.(223-225)CTG>TTG p.L75L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.L75L NM_031857 NP_114063 BTNL9 153579 broad.mit.edu 37 5 180473128 180473128 + Intron SNP C T T 2011-2337:2012-307-T g.chr5:180473128C>T uc003mmt.2 + BTNL9_uc011dhi.1_Intron NM_152547 NP_689760 SYNE1 23345 broad.mit.edu 37 6 152777249 152777249 + Intron SNP C G G 2011-2337:2012-307-T g.chr6:152777249C>G uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qow.2_Intron|SYNE1_uc003qox.1_Intron|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Intron NM_182961 NP_892006 RPS6KA2 6196 broad.mit.edu 37 6 166995343 166995343 + Intron SNP G A A 2011-2337:2012-307-T g.chr6:166995343G>A uc003qvb.1 - RPS6KA2_uc003qvc.1_Intron|RPS6KA2_uc003qvd.1_Intron NM_021135 NP_066958 ADAP1 11033 broad.mit.edu 37 7 977246 977246 + Intron SNP G A A 2011-2337:2012-307-T g.chr7:977246G>A uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 977327 977327 + Intron SNP G A A 2011-2337:2012-307-T g.chr7:977327G>A uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PTN 5764 broad.mit.edu 37 7 136938287 136938287 + Silent SNP C T T 2011-2337:2012-307-T g.chr7:136938287C>T uc003vtq.2 - 3 576 c.213G>A c.(211-213)CGG>CGA p.R71R PTN_uc010lmx.2_Silent_p.R71R|PTN_uc003vtr.1_Silent_p.R71R NM_002825 NP_002816 PTPRN2 5799 broad.mit.edu 37 7 157852047 157852047 + Intron SNP A C C 2011-2337:2012-307-T g.chr7:157852047A>C uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 VIPR2 7434 broad.mit.edu 37 7 158921977 158921977 + Intron SNP G A A 2011-2337:2012-307-T g.chr7:158921977G>A uc003woh.2 - VIPR2_uc010lqx.2_Intron|VIPR2_uc010lqy.2_Intron NM_003382 NP_003373 ENPP2 5168 broad.mit.edu 37 8 120629852 120629852 + Intron SNP C T T 2011-2337:2012-307-T g.chr8:120629852C>T uc003yot.1 - ENPP2_uc003yos.1_Intron|ENPP2_uc010mdd.1_Intron NM_001040092 NP_001035181 CDKN2A 1029 broad.mit.edu 37 9 21971106 21971106 + Silent SNP G A A 2011-2337:2012-307-T g.chr9:21971106G>A uc003zpk.2 - 2 464 c.252C>T c.(250-252)GAC>GAT p.D84D MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R140C NM_000077 NP_000068 NOTCH1 4851 broad.mit.edu 37 9 139413049 139413049 + Missense_Mutation SNP G A A 2011-2337:2012-307-T g.chr9:139413049G>A uc004chz.2 - 6 1093 c.1093C>T c.(1093-1095)CGC>TGC p.R365C NM_017617 NP_060087 HUWE1 10075 broad.mit.edu 37 X 53560975 53560975 + Missense_Mutation SNP G C C 2011-2337:2012-307-T g.chrX:53560975G>C uc004dsp.2 - 83 13417 c.13015C>G c.(13015-13017)CAC>GAC p.H4339D HUWE1_uc004dsn.2_Missense_Mutation_p.H3147D NM_031407 NP_113584 PRDM16 63976 broad.mit.edu 37 1 3186357 3186357 + Intron SNP A G G 2011-2338:2012-306-T g.chr1:3186357A>G uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 CHD5 26038 broad.mit.edu 37 1 6190209 6190209 + Intron SNP T A A 2011-2338:2012-306-T g.chr1:6190209T>A uc001amb.1 - CHD5_uc001alz.1_5'UTR|CHD5_uc001ama.1_Intron|CHD5_uc001amc.1_Intron|CHD5_uc009vlx.1_Intron NM_015557 NP_056372 MTOR 2475 broad.mit.edu 37 1 11175480 11175480 + Silent SNP C T T 2011-2338:2012-306-T g.chr1:11175480C>T uc001asd.2 - 51 7183 c.7062G>A c.(7060-7062)CTG>CTA p.L2354L MTOR_uc001asc.2_Silent_p.L559L NM_004958 NP_004949 NBPF1 55672 broad.mit.edu 37 1 16892065 16892065 + Intron SNP G A A rs71244296 2011-2338:2012-306-T g.chr1:16892065G>A uc009vos.1 - uc001ayw.2_5'Flank NM_017940 NP_060410 MACF1 23499 broad.mit.edu 37 1 39797147 39797147 + Missense_Mutation SNP A T T 2011-2338:2012-306-T g.chr1:39797147A>T uc010oiu.1 + 1 338 c.207A>T c.(205-207)AGA>AGT p.R69S MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 ABCA4 24 broad.mit.edu 37 1 94480285 94480286 + Intron DNP CA AT AT 2011-2338:2012-306-T g.chr1:94480285_94480286CA>AT uc001dqh.2 - ABCA4_uc009wdp.1_Intron NM_000350 NP_000341 COL11A1 1301 broad.mit.edu 37 1 103345498 103345498 + Intron SNP C A A 2011-2338:2012-306-T g.chr1:103345498C>A uc001dul.2 - COL11A1_uc001duk.2_Intron|COL11A1_uc001dum.2_Intron|COL11A1_uc001dun.2_Intron|COL11A1_uc009weh.2_Intron NM_001854 NP_001845 INTS3 65123 broad.mit.edu 37 1 153723662 153723662 + Nonsense_Mutation SNP C T T 2011-2338:2012-306-T g.chr1:153723662C>T uc009wom.2 + 8 897 c.676C>T c.(676-678)CAG>TAG p.Q226* INTS3_uc001fct.2_Nonsense_Mutation_p.Q226*|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_Nonsense_Mutation_p.Q20*|INTS3_uc010peb.1_Nonsense_Mutation_p.Q20*|INTS3_uc001fcw.2_5'UTR NM_023015 NP_075391 TPM3 7170 broad.mit.edu 37 1 154145593 154145593 + Missense_Mutation SNP G T T 2011-2338:2012-306-T g.chr1:154145593G>T uc001fec.1 - 4 577 c.462C>A c.(460-462)CAC>CAA p.H154Q TPM3_uc001fdx.1_5'Flank|TPM3_uc010pei.1_Missense_Mutation_p.H27Q|TPM3_uc001fdy.1_Missense_Mutation_p.H117Q|TPM3_uc001fdz.1_Missense_Mutation_p.H117Q|TPM3_uc001fea.1_Missense_Mutation_p.H117Q|TPM3_uc001feb.1_Missense_Mutation_p.H117Q|TPM3_uc010pej.1_Missense_Mutation_p.H50Q|TPM3_uc009wor.2_Intron|TPM3_uc001fed.1_Missense_Mutation_p.H117Q NM_152263 NP_689476 SPTA1 6708 broad.mit.edu 37 1 158605702 158605702 + Splice_Site SNP C T T 2011-2338:2012-306-T g.chr1:158605702C>T uc001fst.1 - 38 5631 c.5432_splice c.e38+1 p.R1811_splice NM_003126 NP_003117 SPTA1 6708 broad.mit.edu 37 1 158622413 158622413 + Silent SNP T C C 2011-2338:2012-306-T g.chr1:158622413T>C uc001fst.1 - 23 3418 c.3219A>G c.(3217-3219)GAA>GAG p.E1073E NM_003126 NP_003117 USH2A 7399 broad.mit.edu 37 1 216011597 216011597 + Intron SNP C T T 2011-2338:2012-306-T g.chr1:216011597C>T uc001hku.1 - NM_206933 NP_996816 USH2A 7399 broad.mit.edu 37 1 216363673 216363673 + Missense_Mutation SNP T A A 2011-2338:2012-306-T g.chr1:216363673T>A uc001hku.1 - 20 4675 c.4288A>T c.(4288-4290)ACT>TCT p.T1430S USH2A_uc001hkv.2_Missense_Mutation_p.T1430S NM_206933 NP_996816 AKT3 10000 broad.mit.edu 37 1 243727041 243727041 + Missense_Mutation SNP G C C 2011-2338:2012-306-T g.chr1:243727041G>C uc001iab.1 - 9 1010 c.929C>G c.(928-930)CCA>CGA p.P310R AKT3_uc001hzz.1_Missense_Mutation_p.P310R NM_005465 NP_005456 KIF26B 55083 broad.mit.edu 37 1 245607291 245607291 + Intron SNP C T T 2011-2338:2012-306-T g.chr1:245607291C>T uc001ibf.1 + KIF26B_uc010pyq.1_Intron NM_018012 NP_060482 SMYD3 64754 broad.mit.edu 37 1 246139415 246139415 + Intron SNP A G G 2011-2338:2012-306-T g.chr1:246139415A>G uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 SFMBT2 57713 broad.mit.edu 37 10 7325878 7325878 + Missense_Mutation SNP C A A 2011-2338:2012-306-T g.chr10:7325878C>A uc009xio.1 - 6 851 c.760G>T c.(760-762)GAC>TAC p.D254Y SFMBT2_uc001ijn.1_Missense_Mutation_p.D254Y|SFMBT2_uc010qay.1_Missense_Mutation_p.D254Y NM_001029880 NP_001025051 CUBN 8029 broad.mit.edu 37 10 16967326 16967326 + Missense_Mutation SNP G A A rs143899993 byFrequency 2011-2338:2012-306-T g.chr10:16967326G>A uc001ioo.2 - 43 6612 c.6560C>T c.(6559-6561)TCG>TTG p.S2187L NM_001081 NP_001072 PCDH15 65217 broad.mit.edu 37 10 55582066 55582066 + Missense_Mutation SNP G T T 2011-2338:2012-306-T g.chr10:55582066G>T uc001jju.1 - 33 5815 c.5420C>A c.(5419-5421)ACA>AAA p.T1807K PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.T1804K|PCDH15_uc010qhw.1_Missense_Mutation_p.T1767K|PCDH15_uc010qhx.1_Missense_Mutation_p.T1738K|PCDH15_uc010qhy.1_Missense_Mutation_p.T1814K|PCDH15_uc010qhz.1_Missense_Mutation_p.T1809K|PCDH15_uc010qia.1_Missense_Mutation_p.T1787K|PCDH15_uc010qib.1_Missense_Mutation_p.T1784K NM_033056 NP_149045 C10orf93 255352 broad.mit.edu 37 10 134745669 134745669 + Intron SNP A G G 2011-2338:2012-306-T g.chr10:134745669A>G uc001llt.1 - NM_173572 NP_775843 MUC2 4583 broad.mit.edu 37 11 1092947 1092947 + Missense_Mutation SNP C A A 2011-2338:2012-306-T g.chr11:1092947C>A uc001lsx.1 + 31 11879 c.11852C>A c.(11851-11853)ACC>AAC p.T3951N NM_002457 NP_002448 SWAP70 23075 broad.mit.edu 37 11 9726936 9726936 + Intron SNP A T T 2011-2338:2012-306-T g.chr11:9726936A>T uc001mhw.2 + SWAP70_uc001mhv.2_Intron|SWAP70_uc001mhx.2_Intron NM_015055 NP_055870 SWAP70 23075 broad.mit.edu 37 11 9726942 9726942 + Intron SNP A G G 2011-2338:2012-306-T g.chr11:9726942A>G uc001mhw.2 + SWAP70_uc001mhv.2_Intron|SWAP70_uc001mhx.2_Intron NM_015055 NP_055870 OR8H2 390151 broad.mit.edu 37 11 55872844 55872844 + Missense_Mutation SNP C A A 2011-2338:2012-306-T g.chr11:55872844C>A uc010riy.1 + 1 326 c.326C>A c.(325-327)ACT>AAT p.T109N NM_001005200 NP_001005200 UBE4A 9354 broad.mit.edu 37 11 118230240 118230240 + 5'Flank SNP G C C 2011-2338:2012-306-T g.chr11:118230240G>C uc001psw.2 + UBE4A_uc001psv.2_5'Flank NM_004788 NP_004779 B4GALNT3 283358 broad.mit.edu 37 12 622306 622306 + Intron SNP C G G 2011-2338:2012-306-T g.chr12:622306C>G uc001qii.1 + NM_173593 NP_775864 PIK3C2G 5288 broad.mit.edu 37 12 18435643 18435643 + Missense_Mutation SNP G A A 2011-2338:2012-306-T g.chr12:18435643G>A uc001rdt.2 + 2 744 c.628G>A c.(628-630)GGC>AGC p.G210S PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.G210S|PIK3C2G_uc010sic.1_5'UTR NM_004570 NP_004561 PIK3C2G 5288 broad.mit.edu 37 12 18466791 18466791 + Intron SNP A G G 2011-2338:2012-306-T g.chr12:18466791A>G uc001rdt.2 + PIK3C2G_uc010sia.1_Intron|PIK3C2G_uc010sib.1_Intron|PIK3C2G_uc010sic.1_Intron NM_004570 NP_004561 PIK3C2G 5288 broad.mit.edu 37 12 18524193 18524193 + Missense_Mutation SNP A T T 2011-2338:2012-306-T g.chr12:18524193A>T uc001rdt.2 + 12 1821 c.1705A>T c.(1705-1707)ACC>TCC p.T569S PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.T610S|PIK3C2G_uc010sic.1_Missense_Mutation_p.T388S NM_004570 NP_004561 NAV3 89795 broad.mit.edu 37 12 78415719 78415719 + Intron SNP A G G 2011-2338:2012-306-T g.chr12:78415719A>G uc001syp.2 + NAV3_uc001syo.2_Intron NM_014903 NP_055718 TMEM132D 121256 broad.mit.edu 37 12 129559481 129559481 + Missense_Mutation SNP G T T 2011-2338:2012-306-T g.chr12:129559481G>T uc009zyl.1 - 9 2567 c.2239C>A c.(2239-2241)CAA>AAA p.Q747K TMEM132D_uc001uia.2_Missense_Mutation_p.Q285K NM_133448 NP_597705 GPR133 283383 broad.mit.edu 37 12 131502436 131502436 + Intron SNP C T T 2011-2338:2012-306-T g.chr12:131502436C>T uc001uit.3 + GPR133_uc010tbm.1_Intron NM_198827 NP_942122 SLC7A1 6541 broad.mit.edu 37 13 30133626 30133626 + Intron SNP G A A 2011-2338:2012-306-T g.chr13:30133626G>A uc001uso.2 - NM_003045 NP_003036 RB1 5925 broad.mit.edu 37 13 49039155 49039155 + Nonsense_Mutation SNP A T T 2011-2338:2012-306-T g.chr13:49039155A>T uc001vcb.2 + 22 2399 c.2233A>T c.(2233-2235)AAA>TAA p.K745* NM_000321 NP_000312 MYH6 4624 broad.mit.edu 37 14 23869407 23869407 + Intron SNP C T T 2011-2338:2012-306-T g.chr14:23869407C>T uc001wjv.2 - MYH6_uc010akp.1_Missense_Mutation_p.A547T NM_002471 NP_002462 GABRB3 2562 broad.mit.edu 37 15 26793020 26793020 + Missense_Mutation SNP T A A 2011-2338:2012-306-T g.chr15:26793020T>A uc001zaz.2 - 9 1484 c.1342A>T c.(1342-1344)ATA>TTA p.I448L GABRB3_uc010uae.1_Missense_Mutation_p.I363L|GABRB3_uc001zba.2_Missense_Mutation_p.I448L|GABRB3_uc001zbb.2_Missense_Mutation_p.I504L NM_000814 NP_000805 GABRB3 2562 broad.mit.edu 37 15 26828438 26828438 + Intron SNP T C C 2011-2338:2012-306-T g.chr15:26828438T>C uc001zaz.2 - GABRB3_uc010uae.1_Intron|GABRB3_uc001zba.2_Intron|GABRB3_uc001zbb.2_Intron NM_000814 NP_000805 HERC2 8924 broad.mit.edu 37 15 28375585 28375585 + Intron SNP G A A 2011-2338:2012-306-T g.chr15:28375585G>A uc001zbj.2 - NM_004667 NP_004658 HERC2 8924 broad.mit.edu 37 15 28474573 28474573 + Intron SNP C A A 2011-2338:2012-306-T g.chr15:28474573C>A uc001zbj.2 - NM_004667 NP_004658 MAPK8IP3 23162 broad.mit.edu 37 16 1789139 1789139 + Intron SNP G A A 2011-2338:2012-306-T g.chr16:1789139G>A uc002cmk.2 + MAPK8IP3_uc002cmi.1_Intron|MAPK8IP3_uc002cmj.1_Intron|MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Intron NM_015133 NP_055948 MAPK8IP3 23162 broad.mit.edu 37 16 1789189 1789189 + Intron SNP G A A 2011-2338:2012-306-T g.chr16:1789189G>A uc002cmk.2 + MAPK8IP3_uc002cmi.1_Intron|MAPK8IP3_uc002cmj.1_Intron|MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Intron NM_015133 NP_055948 MAPK8IP3 23162 broad.mit.edu 37 16 1789678 1789678 + Intron SNP A T T 2011-2338:2012-306-T g.chr16:1789678A>T uc002cmk.2 + MAPK8IP3_uc002cmi.1_Intron|MAPK8IP3_uc002cmj.1_Intron|MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Intron NM_015133 NP_055948 BTBD12 84464 broad.mit.edu 37 16 3658307 3658307 + Intron SNP C T T 2011-2338:2012-306-T g.chr16:3658307C>T uc002cvp.2 - BTBD12_uc002cvq.1_Intron NM_032444 NP_115820 FANCA 2175 broad.mit.edu 37 16 89851274 89851274 + Silent SNP G A A 2011-2338:2012-306-T g.chr16:89851274G>A uc002fou.1 - 15 1500 c.1458C>T c.(1456-1458)CCC>CCT p.P486P FANCA_uc010vpn.1_Silent_p.P486P NM_000135 NP_000126 TCF25 22980 broad.mit.edu 37 16 89951123 89951123 + Intron SNP C T T rs144575725 by1000genomes 2011-2338:2012-306-T g.chr16:89951123C>T uc002fpb.2 + TCF25_uc002fpc.2_Intron NM_014972 NP_055787 NLRP1 22861 broad.mit.edu 37 17 5448901 5448901 + Intron SNP T C C 2011-2338:2012-306-T g.chr17:5448901T>C uc002gci.2 - NLRP1_uc002gcg.1_Intron|NLRP1_uc002gck.2_Intron|NLRP1_uc002gcj.2_Intron|NLRP1_uc002gcl.2_Intron|NLRP1_uc002gch.3_Intron|NLRP1_uc010clh.2_Intron NM_033004 NP_127497 CLEC10A 10462 broad.mit.edu 37 17 6980741 6980741 + Intron SNP T C C rs79869096 by1000genomes 2011-2338:2012-306-T g.chr17:6980741T>C uc002gek.2 - CLEC10A_uc002gej.2_Intron|CLEC10A_uc002gel.2_Intron|CLEC10A_uc010clv.1_Intron NM_182906 NP_878910 TP53 7157 broad.mit.edu 37 17 7577105 7577105 + Missense_Mutation SNP G A A 2011-2338:2012-306-T g.chr17:7577105G>A uc002gim.2 - 8 1027 c.833C>T c.(832-834)CCT>CTT p.P278L TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.P278L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146L|TP53_uc010cng.1_Missense_Mutation_p.P146L|TP53_uc002gii.1_Missense_Mutation_p.P146L|TP53_uc010cnh.1_Missense_Mutation_p.P278L|TP53_uc010cni.1_Missense_Mutation_p.P278L|TP53_uc002gij.2_Missense_Mutation_p.P278L NM_001126112 NP_001119584 MYH8 4626 broad.mit.edu 37 17 10323319 10323319 + Intron SNP C G G 2011-2338:2012-306-T g.chr17:10323319C>G uc002gmm.2 - uc002gml.1_Intron NM_002472 NP_002463 NCOR1 9611 broad.mit.edu 37 17 15983992 15983992 + Missense_Mutation SNP T G G 2011-2338:2012-306-T g.chr17:15983992T>G uc002gpo.2 - 24 3467 c.3227A>C c.(3226-3228)CAA>CCA p.Q1076P NCOR1_uc002gpn.2_Missense_Mutation_p.Q1092P|NCOR1_uc002gpp.1_Missense_Mutation_p.Q983P|NCOR1_uc010vwb.1_5'Flank|NCOR1_uc010coy.2_5'Flank|NCOR1_uc010vwc.1_5'Flank NM_006311 NP_006302 KRTAP1-1 81851 broad.mit.edu 37 17 39197485 39197485 + Silent SNP A G G 2011-2338:2012-306-T g.chr17:39197485A>G uc002hvw.1 - 1 229 c.165T>C c.(163-165)TGT>TGC p.C55C NM_030967 NP_112229 KRTAP4-3 85290 broad.mit.edu 37 17 39324254 39324254 + Silent SNP G A A 2011-2338:2012-306-T g.chr17:39324254G>A uc010cxl.2 - 1 171 c.171C>T c.(169-171)TCC>TCT p.S57S NM_033187 NP_149443 GOSR2 9570 broad.mit.edu 37 17 45095190 45095190 + Intron SNP A G G 2011-2338:2012-306-T g.chr17:45095190A>G uc010wkh.1 + uc010wki.1_5'Flank NM_004287 NP_004278 ABCA9 10350 broad.mit.edu 37 17 67020469 67020469 + Missense_Mutation SNP G T T 2011-2338:2012-306-T g.chr17:67020469G>T uc002jhu.2 - 17 2310 c.2167C>A c.(2167-2169)CCA>ACA p.P723T ABCA9_uc010dez.2_Missense_Mutation_p.P723T NM_080283 NP_525022 ABCA6 23460 broad.mit.edu 37 17 67079048 67079048 + Silent SNP G A A 2011-2338:2012-306-T g.chr17:67079048G>A uc002jhw.1 - 36 4757 c.4582C>T c.(4582-4584)CTG>TTG p.L1528L NM_080284 NP_525023 DLGAP1 9229 broad.mit.edu 37 18 3741307 3741307 + Intron SNP C G G 2011-2338:2012-306-T g.chr18:3741307C>G uc002kmf.2 - DLGAP1_uc010wyz.1_Intron|DLGAP1_uc002kme.1_Intron|DLGAP1_uc010dkn.2_Intron|DLGAP1_uc010wyw.1_Intron|DLGAP1_uc010wyx.1_Intron|DLGAP1_uc010wyy.1_Intron|DLGAP1_uc002kmg.2_Intron|DLGAP1_uc002kmk.2_Intron NM_004746 NP_004737 LAMA1 284217 broad.mit.edu 37 18 6950889 6950889 + Silent SNP G A A 2011-2338:2012-306-T g.chr18:6950889G>A uc002knm.2 - 58 8383 c.8289C>T c.(8287-8289)TAC>TAT p.Y2763Y LAMA1_uc002knk.2_Silent_p.Y93Y|LAMA1_uc002knl.2_Silent_p.Y216Y|LAMA1_uc010wzj.1_Silent_p.Y2239Y NM_005559 NP_005550 LAMA1 284217 broad.mit.edu 37 18 6986065 6986065 + Intron SNP C T T 2011-2338:2012-306-T g.chr18:6986065C>T uc002knm.2 - LAMA1_uc010wzj.1_Intron NM_005559 NP_005550 CABLES1 91768 broad.mit.edu 37 18 20798456 20798456 + Intron SNP C G G 2011-2338:2012-306-T g.chr18:20798456C>G uc002kuc.2 + C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Intron|CABLES1_uc002kud.2_Intron NM_001100619 NP_001094089 ZNF521 25925 broad.mit.edu 37 18 22806963 22806963 + Missense_Mutation SNP C G G 2011-2338:2012-306-T g.chr18:22806963C>G uc002kvk.2 - 4 1166 c.919G>C c.(919-921)GAG>CAG p.E307Q ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.E307Q|ZNF521_uc002kvl.2_Missense_Mutation_p.E87Q NM_015461 NP_056276 SMAD4 4089 broad.mit.edu 37 18 48573196 48573196 + Intron SNP G C C 2011-2338:2012-306-T g.chr18:48573196G>C uc010xdp.1 + SMAD4_uc010xdo.1_Intron NM_005359 NP_005350 PARD6G 84552 broad.mit.edu 37 18 77942378 77942378 + Intron SNP G A A 2011-2338:2012-306-T g.chr18:77942378G>A uc002lny.2 - PARD6G_uc010xfp.1_Intron NM_032510 NP_115899 FZR1 51343 broad.mit.edu 37 19 3530498 3530498 + Intron SNP A G G rs28454918 by1000genomes 2011-2338:2012-306-T g.chr19:3530498A>G uc010dtk.2 + FZR1_uc002lxt.2_Intron|FZR1_uc002lxv.2_Intron NM_001136198 NP_001129670 FZR1 51343 broad.mit.edu 37 19 3530517 3530517 + Intron SNP T C C rs28479489 by1000genomes 2011-2338:2012-306-T g.chr19:3530517T>C uc010dtk.2 + FZR1_uc002lxt.2_Intron|FZR1_uc002lxv.2_Intron NM_001136198 NP_001129670 KEAP1 9817 broad.mit.edu 37 19 10602328 10602328 + Missense_Mutation SNP C A A 2011-2338:2012-306-T g.chr19:10602328C>A uc002moq.1 - 3 1406 c.1250G>T c.(1249-1251)GGG>GTG p.G417V KEAP1_uc002mop.1_Missense_Mutation_p.G135V|KEAP1_uc002mor.1_Missense_Mutation_p.G417V NM_012289 NP_036421 ZNF440 126070 broad.mit.edu 37 19 11943309 11943309 + Missense_Mutation SNP C G G 2011-2338:2012-306-T g.chr19:11943309C>G uc002msp.1 + 4 1474 c.1318C>G c.(1318-1320)CAA>GAA p.Q440E NM_152357 NP_689570 ZNF433 163059 broad.mit.edu 37 19 12126239 12126239 + Missense_Mutation SNP C G G 2011-2338:2012-306-T g.chr19:12126239C>G uc002msy.1 - 4 1614 c.1443G>C c.(1441-1443)AAG>AAC p.K481N uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.K446N NM_001080411 NP_001073880 AKT2 208 broad.mit.edu 37 19 40754718 40754718 + Intron SNP G A A rs111407903 by1000genomes 2011-2338:2012-306-T g.chr19:40754718G>A uc002onf.2 - AKT2_uc010egs.2_Intron|AKT2_uc010egt.2_Intron|AKT2_uc010xvj.1_Intron|AKT2_uc010egu.1_Intron|AKT2_uc010xvk.1_Intron NM_001626 NP_001617 TPRX1 284355 broad.mit.edu 37 19 48305286 48305286 + Missense_Mutation SNP G C C 2011-2338:2012-306-T g.chr19:48305286G>C uc002php.1 - 2 1053 c.982C>G c.(982-984)CCA>GCA p.P328A NM_198479 NP_940881 CACNG7 59284 broad.mit.edu 37 19 54427233 54427233 + Intron SNP G T T 2011-2338:2012-306-T g.chr19:54427233G>T uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 CACNG7 59284 broad.mit.edu 37 19 54427242 54427242 + Intron SNP C T T rs74973062 2011-2338:2012-306-T g.chr19:54427242C>T uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 RMND5A 64795 broad.mit.edu 37 2 87015704 87015704 + Intron SNP G C C 2011-2338:2012-306-T g.chr2:87015704G>C uc002srs.3 + CD8A_uc002srv.2_Intron|CD8A_uc010ytn.1_Intron|CD8A_uc002srt.2_Intron|CD8A_uc002sru.2_Intron RMND5A 64795 broad.mit.edu 37 2 87015825 87015825 + Intron SNP G A A 2011-2338:2012-306-T g.chr2:87015825G>A uc002srs.3 + CD8A_uc002srv.2_Intron|CD8A_uc010ytn.1_Intron|CD8A_uc002srt.2_Intron|CD8A_uc002sru.2_Intron RMND5A 64795 broad.mit.edu 37 2 87625035 87625035 + Intron SNP C A A 2011-2338:2012-306-T g.chr2:87625035C>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87625296 87625296 + Intron SNP C T T 2011-2338:2012-306-T g.chr2:87625296C>T uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87633478 87633478 + Intron SNP C T T 2011-2338:2012-306-T g.chr2:87633478C>T uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87644174 87644174 + Intron SNP G C C 2011-2338:2012-306-T g.chr2:87644174G>C uc002srs.3 + LRP1B 53353 broad.mit.edu 37 2 141751609 141751609 + Missense_Mutation SNP C A A 2011-2338:2012-306-T g.chr2:141751609C>A uc002tvj.1 - 16 3571 c.2599G>T c.(2599-2601)GAC>TAC p.D867Y LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 TTN 7273 broad.mit.edu 37 2 179452415 179452415 + Silent SNP A G G 2011-2338:2012-306-T g.chr2:179452415A>G uc010zfg.1 - 255 56141 c.55917T>C c.(55915-55917)ACT>ACC p.T18639T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T12334T|TTN_uc010zfi.1_Silent_p.T12267T|TTN_uc010zfj.1_Silent_p.T12142T NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179465541 179465541 + Intron SNP C T T 2011-2338:2012-306-T g.chr2:179465541C>T uc010zfg.1 - uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179485809 179485809 + Intron SNP A G G 2011-2338:2012-306-T g.chr2:179485809A>G uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179589006 179589006 + Silent SNP T C C 2011-2338:2012-306-T g.chr2:179589006T>C uc010zfg.1 - 69 17588 c.17364A>G c.(17362-17364)ACA>ACG p.T5788T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T2449T NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179595453 179595453 + Missense_Mutation SNP A G G 2011-2338:2012-306-T g.chr2:179595453A>G uc010zfg.1 - 58 14299 c.14075T>C c.(14074-14076)ATT>ACT p.I4692T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I1353T NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179613018 179613018 + Missense_Mutation SNP T A A 2011-2338:2012-306-T g.chr2:179613018T>A uc002unb.2 - 46 14333 c.14109A>T c.(14107-14109)GAA>GAT p.E4703D TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 PMS1 5378 broad.mit.edu 37 2 190719015 190719015 + Silent SNP A G G 2011-2338:2012-306-T g.chr2:190719015A>G uc002urh.3 + 9 1546 c.1017A>G c.(1015-1017)CCA>CCG p.P339P PMS1_uc010zga.1_Silent_p.P300P|PMS1_uc010zgb.1_Silent_p.P278P|PMS1_uc002urk.3_Silent_p.P300P|PMS1_uc002uri.3_Silent_p.P339P|PMS1_uc010zgc.1_Silent_p.P163P|PMS1_uc010zgd.1_Silent_p.P163P|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Silent_p.P300P|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Silent_p.P124P|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Silent_p.P7P NM_000534 NP_000525 ERBB4 2066 broad.mit.edu 37 2 212285401 212285401 + Intron SNP G A A 2011-2338:2012-306-T g.chr2:212285401G>A uc002veg.1 - ERBB4_uc002veh.1_Intron|ERBB4_uc010zji.1_Intron|ERBB4_uc010zjj.1_Intron NM_005235 NP_005226 ERBB4 2066 broad.mit.edu 37 2 212288987 212288987 + Missense_Mutation SNP G T T 2011-2338:2012-306-T g.chr2:212288987G>T uc002veg.1 - 23 2857 c.2759C>A c.(2758-2760)CCC>CAC p.P920H ERBB4_uc002veh.1_Missense_Mutation_p.P920H|ERBB4_uc010zji.1_Missense_Mutation_p.P910H|ERBB4_uc010zjj.1_Missense_Mutation_p.P910H NM_005235 NP_005226 ABCA12 26154 broad.mit.edu 37 2 215819962 215819962 + Silent SNP C T T 2011-2338:2012-306-T g.chr2:215819962C>T uc002vew.2 - 43 6577 c.6357G>A c.(6355-6357)GTG>GTA p.V2119V ABCA12_uc002vev.2_Silent_p.V1801V|ABCA12_uc010zjn.1_Silent_p.V1046V NM_173076 NP_775099 PLCB1 23236 broad.mit.edu 37 20 8862274 8862274 + Missense_Mutation SNP G T T 2011-2338:2012-306-T g.chr20:8862274G>T uc002wnb.2 + 32 3432 c.3429G>T c.(3427-3429)CAG>CAT p.Q1143H PLCB1_uc002wna.2_3'UTR NM_015192 NP_056007 DSCAM 1826 broad.mit.edu 37 21 41741227 41741227 + Intron SNP A C C 2011-2338:2012-306-T g.chr21:41741227A>C uc002yyq.1 - DSCAM_uc002yyr.1_Intron NM_001389 NP_001380 PTTG1IP 754 broad.mit.edu 37 21 46283027 46283027 + Intron SNP C G G 2011-2338:2012-306-T g.chr21:46283027C>G uc002zgb.1 - PTTG1IP_uc011afj.1_Intron|PTTG1IP_uc011afk.1_Intron NM_004339 NP_004330 CLTCL1 8218 broad.mit.edu 37 22 19183743 19183743 + Intron SNP C A A 2011-2338:2012-306-T g.chr22:19183743C>A uc002zpb.2 - CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Intron|CLTCL1_uc011agt.1_Intron|CLTCL1_uc011agu.1_Intron NM_007098 NP_009029 KREMEN1 83999 broad.mit.edu 37 22 29516225 29516225 + Intron SNP G T T 2011-2338:2012-306-T g.chr22:29516225G>T uc011akm.1 + KREMEN1_uc003ael.2_Intron|KREMEN1_uc011akn.1_Intron NM_032045 NP_114434 FAM19A5 25817 broad.mit.edu 37 22 48980732 48980732 + Intron SNP C A A 2011-2338:2012-306-T g.chr22:48980732C>A uc003bim.3 + FAM19A5_uc003bio.3_Intron NM_001082967 NP_001076436 CNTN6 27255 broad.mit.edu 37 3 1189628 1189628 + 5'UTR SNP T A A 2011-2338:2012-306-T g.chr3:1189628T>A uc003boz.2 + 2 CNTN6_uc010hbo.2_5'UTR|CNTN6_uc011asj.1_Intron|CNTN6_uc003bpa.2_5'UTR NM_014461 NP_055276 CNTN6 27255 broad.mit.edu 37 3 1443248 1443248 + Intron SNP C T T 2011-2338:2012-306-T g.chr3:1443248C>T uc003boz.2 + CNTN6_uc011asj.1_Intron|CNTN6_uc003bpa.2_Intron NM_014461 NP_055276 XPC 7508 broad.mit.edu 37 3 14187637 14187637 + Missense_Mutation SNP G T T 2011-2338:2012-306-T g.chr3:14187637G>T uc011ave.1 - 16 2731 c.2627C>A c.(2626-2628)ACA>AAA p.T876K XPC_uc011avf.1_Missense_Mutation_p.T683K|XPC_uc011avg.1_Missense_Mutation_p.T839K NM_004628 NP_004619 PIK3CB 5291 broad.mit.edu 37 3 138409846 138409846 + Missense_Mutation SNP G T T 2011-2338:2012-306-T g.chr3:138409846G>T uc011bmq.1 - 13 2032 c.2032C>A c.(2032-2034)CTT>ATT p.L678I PIK3CB_uc011bmn.1_Missense_Mutation_p.L190I|PIK3CB_uc011bmo.1_Missense_Mutation_p.L124I|PIK3CB_uc011bmp.1_Missense_Mutation_p.L265I NM_006219 NP_006210 ZIC1 7545 broad.mit.edu 37 3 147128802 147128802 + Silent SNP C A A 2011-2338:2012-306-T g.chr3:147128802C>A uc003ewe.2 + 1 1622 c.903C>A c.(901-903)CCC>CCA p.P301P NM_003412 NP_003403 SI 6476 broad.mit.edu 37 3 164737493 164737493 + Missense_Mutation SNP G T T 2011-2338:2012-306-T g.chr3:164737493G>T uc003fei.2 - 28 3382 c.3320C>A c.(3319-3321)CCA>CAA p.P1107Q NM_001041 NP_001032 MUC4 4585 broad.mit.edu 37 3 195503135 195503135 + Intron SNP C T T 2011-2338:2012-306-T g.chr3:195503135C>T uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 MUC4 4585 broad.mit.edu 37 3 195503573 195503573 + Intron SNP A T T 2011-2338:2012-306-T g.chr3:195503573A>T uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 MUC4 4585 broad.mit.edu 37 3 195504784 195504784 + Intron SNP A G G rs55764966 by1000genomes 2011-2338:2012-306-T g.chr3:195504784A>G uc011bto.1 - MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 PCYT1A 5130 broad.mit.edu 37 3 195977106 195977106 + Intron SNP G T T 2011-2338:2012-306-T g.chr3:195977106G>T uc003fwg.2 - PCYT1A_uc003fwh.2_Intron NM_005017 NP_005008 PDGFRA 5156 broad.mit.edu 37 4 55129751 55129751 + Intron SNP T C C 2011-2338:2012-306-T g.chr4:55129751T>C uc003han.3 + PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_Intron|PDGFRA_uc010igq.1_Intron|PDGFRA_uc003ham.2_Intron NM_006206 NP_006197 GC 2638 broad.mit.edu 37 4 72669661 72669661 + Missense_Mutation SNP C A A rs76781122 byFrequency;by1000genomes 2011-2338:2012-306-T g.chr4:72669661C>A uc010iif.2 - 1 98 c.3G>T c.(1-3)ATG>ATT p.M1I NM_000583 NP_000574 TET2 54790 broad.mit.edu 37 4 106159369 106159369 + Intron SNP C G G 2011-2338:2012-306-T g.chr4:106159369C>G uc003hxk.2 + TET2_uc011cez.1_Intron|TET2_uc003hxj.2_Intron|TET2_uc010ilp.1_Intron|TET2_uc003hxi.1_3'UTR NM_001127208 NP_001120680 TET2 54790 broad.mit.edu 37 4 106161526 106161526 + Intron SNP C G G 2011-2338:2012-306-T g.chr4:106161526C>G uc003hxk.2 + TET2_uc011cez.1_Intron|TET2_uc003hxj.2_Intron|TET2_uc010ilp.1_Intron|TET2_uc003hxi.1_3'UTR NM_001127208 NP_001120680 INPP4B 8821 broad.mit.edu 37 4 143044490 143044490 + Missense_Mutation SNP T A A 2011-2338:2012-306-T g.chr4:143044490T>A uc003iix.3 - 21 2567 c.1972A>T c.(1972-1974)ACA>TCA p.T658S INPP4B_uc003iiw.3_Missense_Mutation_p.T658S|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.T473S|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.T529S NM_003866 NP_003857 AHRR 57491 broad.mit.edu 37 5 392390 392390 + Intron SNP C G G 2011-2338:2012-306-T g.chr5:392390C>G uc003jav.2 + AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Intron NM_020731 NP_065782 CLPTM1L 81037 broad.mit.edu 37 5 1326682 1326682 + Intron SNP C G G 2011-2338:2012-306-T g.chr5:1326682C>G uc003jch.2 - CLPTM1L_uc003jcg.2_Intron NM_030782 NP_110409 DNAH5 1767 broad.mit.edu 37 5 13777450 13777450 + Nonsense_Mutation SNP G C C 2011-2338:2012-306-T g.chr5:13777450G>C uc003jfd.2 - 54 9008 c.8966C>G c.(8965-8967)TCA>TGA p.S2989* NM_001369 NP_001360 DNAH5 1767 broad.mit.edu 37 5 13814976 13814976 + Intron SNP G A A 2011-2338:2012-306-T g.chr5:13814976G>A uc003jfd.2 - NM_001369 NP_001360 DNAH5 1767 broad.mit.edu 37 5 13844918 13844918 + Intron SNP G T T 2011-2338:2012-306-T g.chr5:13844918G>T uc003jfd.2 - NM_001369 NP_001360 TRIO 7204 broad.mit.edu 37 5 14364753 14364753 + Intron SNP C A A 2011-2338:2012-306-T g.chr5:14364753C>A uc003jff.2 + TRIO_uc003jfg.2_Intron|TRIO_uc011cna.1_Intron|TRIO_uc003jfh.1_Intron NM_007118 NP_009049 FAM134B 54463 broad.mit.edu 37 5 16535853 16535853 + Intron SNP A G G rs70938059 2011-2338:2012-306-T g.chr5:16535853A>G uc003jfs.2 - NM_001034850 NP_001030022 CDH12 1010 broad.mit.edu 37 5 22078860 22078860 + 5'UTR SNP G C C 2011-2338:2012-306-T g.chr5:22078860G>C uc010iuc.2 - 2 CDH12_uc011cno.1_5'UTR|CDH12_uc003jgk.2_5'UTR NM_004061 NP_004052 PRDM9 56979 broad.mit.edu 37 5 23527278 23527278 + Missense_Mutation SNP G T T 2011-2338:2012-306-T g.chr5:23527278G>T uc003jgo.2 + 11 2263 c.2081G>T c.(2080-2082)TGC>TTC p.C694F NM_020227 NP_064612 PRDM9 56979 broad.mit.edu 37 5 23527614 23527614 + Missense_Mutation SNP G T T 2011-2338:2012-306-T g.chr5:23527614G>T uc003jgo.2 + 11 2599 c.2417G>T c.(2416-2418)TGC>TTC p.C806F NM_020227 NP_064612 CDH10 1008 broad.mit.edu 37 5 24491686 24491686 + Silent SNP C A A 2011-2338:2012-306-T g.chr5:24491686C>A uc003jgr.1 - 11 2207 c.1875G>T c.(1873-1875)CTG>CTT p.L625L CDH10_uc011cnu.1_RNA NM_006727 NP_006718 ADAMTS12 81792 broad.mit.edu 37 5 33627305 33627305 + Intron SNP G A A 2011-2338:2012-306-T g.chr5:33627305G>A uc003jia.1 - ADAMTS12_uc010iuq.1_Intron NM_030955 NP_112217 RASGEF1C 255426 broad.mit.edu 37 5 179539898 179539898 + Intron SNP G T T 2011-2338:2012-306-T g.chr5:179539898G>T uc003mlq.2 - RASGEF1C_uc003mlr.2_Intron|RASGEF1C_uc003mlp.3_Intron NM_175062 NP_778232 PKHD1 5314 broad.mit.edu 37 6 51893021 51893021 + Missense_Mutation SNP G A A 2011-2338:2012-306-T g.chr6:51893021G>A uc003pah.1 - 30 3769 c.3493C>T c.(3493-3495)CCC>TCC p.P1165S PKHD1_uc003pai.2_Missense_Mutation_p.P1165S NM_138694 NP_619639 DST 667 broad.mit.edu 37 6 56480384 56480384 + Intron SNP T A A 2011-2338:2012-306-T g.chr6:56480384T>A uc003pdf.2 - DST_uc003pcz.3_Intron|DST_uc011dxj.1_Intron|DST_uc011dxk.1_Intron|DST_uc003pcy.3_Intron|DST_uc003pdb.2_Intron|DST_uc003pdc.3_Silent_p.T2627T NM_001144769 NP_001138241 ROS1 6098 broad.mit.edu 37 6 117683613 117683613 + Intron SNP A G G 2011-2338:2012-306-T g.chr6:117683613A>G uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 ROS1 6098 broad.mit.edu 37 6 117709266 117709266 + Intron SNP G T T 2011-2338:2012-306-T g.chr6:117709266G>T uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 SYNE1 23345 broad.mit.edu 37 6 152457906 152457906 + Missense_Mutation SNP G C C 2011-2338:2012-306-T g.chr6:152457906G>C uc010kiw.2 - 141 26108 c.25506C>G c.(25504-25506)ATC>ATG p.I8502M SYNE1_uc010kiv.2_Missense_Mutation_p.I3026M|SYNE1_uc003qos.3_Missense_Mutation_p.I3026M|SYNE1_uc003qot.3_Missense_Mutation_p.I8454M|SYNE1_uc003qou.3_Missense_Mutation_p.I8502M|SYNE1_uc003qop.3_Missense_Mutation_p.I687M|SYNE1_uc011eez.1_Missense_Mutation_p.I704M|SYNE1_uc003qoq.3_Missense_Mutation_p.I704M|SYNE1_uc003qor.3_Missense_Mutation_p.I1425M NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152532741 152532741 + Intron SNP G T T 2011-2338:2012-306-T g.chr6:152532741G>T uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152542145 152542145 + Silent SNP T C C 2011-2338:2012-306-T g.chr6:152542145T>C uc010kiw.2 - 119 22295 c.21693A>G c.(21691-21693)CTA>CTG p.L7231L SYNE1_uc010kiv.2_Silent_p.L1755L|SYNE1_uc003qos.3_Silent_p.L1755L|SYNE1_uc003qot.3_Silent_p.L7160L|SYNE1_uc003qou.3_Silent_p.L7231L|SYNE1_uc003qor.3_Silent_p.L131L NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152647344 152647344 + Intron SNP G T T rs111613513 2011-2338:2012-306-T g.chr6:152647344G>T uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kiz.2_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152751766 152751766 + Missense_Mutation SNP C A A 2011-2338:2012-306-T g.chr6:152751766C>A uc010kiw.2 - 35 5142 c.4540G>T c.(4540-4542)GTT>TTT p.V1514F SYNE1_uc003qot.3_Missense_Mutation_p.V1521F|SYNE1_uc003qou.3_Missense_Mutation_p.V1514F|SYNE1_uc010kjb.1_Missense_Mutation_p.V1497F|SYNE1_uc003qow.2_Missense_Mutation_p.V809F NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152804382 152804382 + Silent SNP G C C 2011-2338:2012-306-T g.chr6:152804382G>C uc010kiw.2 - 14 1790 c.1188C>G c.(1186-1188)CTC>CTG p.L396L SYNE1_uc003qot.3_Silent_p.L403L|SYNE1_uc003qou.3_Silent_p.L396L|SYNE1_uc010kjb.1_Silent_p.L379L|SYNE1_uc003qpa.1_Silent_p.L396L|SYNE1_uc003qox.1_5'UTR NM_182961 NP_892006 C6orf35 729515 broad.mit.edu 37 6 157731943 157731943 + Intron SNP C T T 2011-2338:2012-306-T g.chr6:157731943C>T uc003sih.3 - NM_018452 NP_060922 TCP10 6953 broad.mit.edu 37 6 167800415 167800415 + 5'Flank SNP G A A 2011-2338:2012-306-T g.chr6:167800415G>A uc003qvv.1 - TCP10_uc003qvu.2_5'Flank|TCP10_uc003qvw.2_5'Flank NM_004610 NP_004601 SMOC2 64094 broad.mit.edu 37 6 169025457 169025457 + Intron SNP A T T 2011-2338:2012-306-T g.chr6:169025457A>T uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_Intron NM_022138 NP_071421 GET4 51608 broad.mit.edu 37 7 929500 929500 + Intron SNP T C C 2011-2338:2012-306-T g.chr7:929500T>C uc003sjl.1 + GET4_uc003sjj.1_Intron NM_015949 NP_057033 GET4 51608 broad.mit.edu 37 7 929967 929967 + Intron SNP C T T rs10237124 2011-2338:2012-306-T g.chr7:929967C>T uc003sjl.1 + GET4_uc003sjj.1_Intron NM_015949 NP_057033 ETV1 2115 broad.mit.edu 37 7 13971037 13971037 + Intron SNP G C C 2011-2338:2012-306-T g.chr7:13971037G>C uc011jxq.1 - ETV1_uc011jxn.1_Intron|ETV1_uc011jxo.1_Intron|ETV1_uc011jxp.1_Intron|ETV1_uc003ssw.3_Intron|ETV1_uc003ssx.2_Intron|ETV1_uc011jxr.1_Intron|ETV1_uc011jxs.1_Intron|ETV1_uc010ktv.2_Intron NM_004956 NP_004947 VPS41 27072 broad.mit.edu 37 7 38783002 38783002 + Missense_Mutation SNP G A A 2011-2338:2012-306-T g.chr7:38783002G>A uc003tgy.2 - 24 2148 c.2122C>T c.(2122-2124)CCA>TCA p.P708S VPS41_uc003tgz.2_Missense_Mutation_p.P683S|VPS41_uc010kxn.2_Missense_Mutation_p.P619S|VPS41_uc003tgx.2_RNA NM_014396 NP_055211 ZNF804B 219578 broad.mit.edu 37 7 88964094 88964094 + Missense_Mutation SNP A T T 2011-2338:2012-306-T g.chr7:88964094A>T uc011khi.1 + 4 2336 c.1798A>T c.(1798-1800)AAC>TAC p.N600Y NM_181646 NP_857597 COL1A2 1278 broad.mit.edu 37 7 94038838 94038838 + Intron SNP A T T 2011-2338:2012-306-T g.chr7:94038838A>T uc003ung.1 + COL1A2_uc011kib.1_Intron NM_000089 NP_000080 RELN 5649 broad.mit.edu 37 7 103159827 103159827 + Missense_Mutation SNP C A A 2011-2338:2012-306-T g.chr7:103159827C>A uc003vca.2 - 49 7965 c.7805G>T c.(7804-7806)GGA>GTA p.G2602V RELN_uc010liz.2_Missense_Mutation_p.G2602V NM_005045 NP_005036 SRPK2 6733 broad.mit.edu 37 7 104766769 104766769 + Missense_Mutation SNP A G G 2011-2338:2012-306-T g.chr7:104766769A>G uc003vct.2 - 14 1995 c.1808T>C c.(1807-1809)ATA>ACA p.I603T SRPK2_uc003vcu.2_Missense_Mutation_p.I603T|SRPK2_uc003vcv.2_Missense_Mutation_p.I614T|SRPK2_uc003vcs.1_RNA NM_182691 NP_872633 PIK3CG 5294 broad.mit.edu 37 7 106545580 106545580 + Silent SNP C T T 2011-2338:2012-306-T g.chr7:106545580C>T uc003vdv.3 + 11 3142 c.3057C>T c.(3055-3057)GCC>GCT p.A1019A PIK3CG_uc003vdu.2_Silent_p.A1019A|PIK3CG_uc003vdw.2_Silent_p.A1019A NM_002649 NP_002640 SLC26A3 1811 broad.mit.edu 37 7 107423147 107423147 + Intron SNP C T T 2011-2338:2012-306-T g.chr7:107423147C>T uc003ver.2 - SLC26A3_uc003ves.2_Intron NM_000111 NP_000102 KIAA1549 57670 broad.mit.edu 37 7 138602025 138602025 + Missense_Mutation SNP C A A 2011-2338:2012-306-T g.chr7:138602025C>A uc011kql.1 - 2 2396 c.2347G>T c.(2347-2349)GGG>TGG p.G783W KIAA1549_uc003vuk.3_Missense_Mutation_p.G733W|KIAA1549_uc011kqj.1_Missense_Mutation_p.G783W NM_020910 NP_065961 CNTNAP2 26047 broad.mit.edu 37 7 146536935 146536935 + Missense_Mutation SNP G A A 2011-2338:2012-306-T g.chr7:146536935G>A uc003weu.1 + 3 857 c.341G>A c.(340-342)CGG>CAG p.R114Q NM_014141 NP_054860 CNTNAP2 26047 broad.mit.edu 37 7 148028756 148028756 + Intron SNP T C C 2011-2338:2012-306-T g.chr7:148028756T>C uc003weu.1 + NM_014141 NP_054860 PTPRN2 5799 broad.mit.edu 37 7 157373597 157373597 + Intron SNP C A A 2011-2338:2012-306-T g.chr7:157373597C>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157660017 157660017 + Intron SNP T C C 2011-2338:2012-306-T g.chr7:157660017T>C uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157852463 157852463 + Intron SNP T C C 2011-2338:2012-306-T g.chr7:157852463T>C uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157944062 157944062 + Intron SNP T C C rs150204556 by1000genomes 2011-2338:2012-306-T g.chr7:157944062T>C uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158063724 158063724 + Intron SNP C A A 2011-2338:2012-306-T g.chr7:158063724C>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158295597 158295597 + Intron SNP C A A 2011-2338:2012-306-T g.chr7:158295597C>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ZFHX4 79776 broad.mit.edu 37 8 77767726 77767726 + Missense_Mutation SNP A T T 2011-2338:2012-306-T g.chr8:77767726A>T uc003yav.2 + 10 8821 c.8434A>T c.(8434-8436)ACG>TCG p.T2812S ZFHX4_uc003yau.1_Missense_Mutation_p.T2857S|ZFHX4_uc003yaw.1_Missense_Mutation_p.T2812S NM_024721 NP_078997 MMP16 4325 broad.mit.edu 37 8 89209566 89209566 + Intron SNP C T T 2011-2338:2012-306-T g.chr8:89209566C>T uc003yeb.3 - MMP16_uc003yec.2_Intron NM_005941 NP_005932 CSMD3 114788 broad.mit.edu 37 8 113323367 113323367 + Silent SNP T A A 2011-2338:2012-306-T g.chr8:113323367T>A uc003ynu.2 - 50 7884 c.7725A>T c.(7723-7725)CCA>CCT p.P2575P CSMD3_uc003yns.2_Silent_p.P1777P|CSMD3_uc003ynt.2_Silent_p.P2535P|CSMD3_uc011lhx.1_Silent_p.P2471P|CSMD3_uc003ynw.1_Silent_p.P286P NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113841929 113841929 + Silent SNP C T T 2011-2338:2012-306-T g.chr8:113841929C>T uc003ynu.2 - 12 2004 c.1845G>A c.(1843-1845)AGG>AGA p.R615R CSMD3_uc003ynt.2_Silent_p.R575R|CSMD3_uc011lhx.1_Silent_p.R511R NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113933832 113933832 + Intron SNP G A A 2011-2338:2012-306-T g.chr8:113933832G>A uc003ynu.2 - CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 ZFP41 286128 broad.mit.edu 37 8 144342202 144342202 + 3'UTR SNP G C C 2011-2338:2012-306-T g.chr8:144342202G>C uc003yxw.2 + 3 ZFP41_uc003yxv.2_Intron NM_173832 NP_776193 HEATR7A 727957 broad.mit.edu 37 8 145288295 145288295 + Intron SNP C A A rs11779369 2011-2338:2012-306-T g.chr8:145288295C>A uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 ADCK5 203054 broad.mit.edu 37 8 145596602 145596602 + 5'Flank SNP C T T 2011-2338:2012-306-T g.chr8:145596602C>T uc003zch.2 + ADCK5_uc003zcg.2_5'Flank NM_174922 NP_777582 JAK2 3717 broad.mit.edu 37 9 5066748 5066748 + Missense_Mutation SNP C A A 2011-2338:2012-306-T g.chr9:5066748C>A uc010mhm.2 + 9 1398 c.1285C>A c.(1285-1287)CCT>ACT p.P429T JAK2_uc003ziw.2_Missense_Mutation_p.P429T NM_004972 NP_004963 NOTCH1 4851 broad.mit.edu 37 9 139418017 139418017 + Intron SNP C G G 2011-2338:2012-306-T g.chr9:139418017C>G uc004chz.2 - NM_017617 NP_060087 PNPLA7 375775 broad.mit.edu 37 9 140411825 140411825 + Intron SNP T C C 2011-2338:2012-306-T g.chr9:140411825T>C uc004cnf.2 - PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Intron NM_152286 NP_689499 PLCXD1 55344 broad.mit.edu 37 X 197062 197062 + 5'Flank SNP A G G 2011-2338:2012-306-T g.chrX:197062A>G uc004cpc.2 + PLCXD1_uc011mgx.1_Intron NM_018390 NP_060860 CSF2RA 1438 broad.mit.edu 37 X 1412738 1412738 + Intron SNP G A A 2011-2338:2012-306-T g.chrX:1412738G>A uc010nct.2 + CSF2RA_uc011mhb.1_Intron|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Intron|CSF2RA_uc004cpo.2_Intron|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Intron|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_Intron|CSF2RA_uc004cpr.2_Intron NM_001161529 NP_001155001 C1orf173 127254 broad.mit.edu 37 1 75038600 75038600 + Missense_Mutation SNP C T T 2011-2339:2012-305-T g.chr1:75038600C>T uc001dgg.2 - 14 3013 c.2794G>A c.(2794-2796)GAG>AAG p.E932K NM_001002912 NP_001002912 C1orf173 127254 broad.mit.edu 37 1 75038869 75038869 + Missense_Mutation SNP G T T 2011-2339:2012-305-T g.chr1:75038869G>T uc001dgg.2 - 14 2744 c.2525C>A c.(2524-2526)GCA>GAA p.A842E NM_001002912 NP_001002912 SPAG17 200162 broad.mit.edu 37 1 118539202 118539202 + Intron SNP T G G 2011-2339:2012-305-T g.chr1:118539202T>G uc001ehk.2 - NM_206996 NP_996879 FAM5B 57795 broad.mit.edu 37 1 177140473 177140473 + 5'Flank SNP T A A 2011-2339:2012-305-T g.chr1:177140473T>A uc001glf.2 + NM_021165 NP_066988 SFMBT2 57713 broad.mit.edu 37 10 7325814 7325814 + Intron SNP T C C 2011-2339:2012-305-T g.chr10:7325814T>C uc009xio.1 - SFMBT2_uc001ijn.1_Intron|SFMBT2_uc010qay.1_Intron NM_001029880 NP_001025051 OR51S1 119692 broad.mit.edu 37 11 4870107 4870107 + Missense_Mutation SNP A C C 2011-2339:2012-305-T g.chr11:4870107A>C uc010qyo.1 - 1 332 c.332T>G c.(331-333)TTT>TGT p.F111C NM_001004758 NP_001004758 OR8K1 390157 broad.mit.edu 37 11 56113811 56113811 + Silent SNP T G G 2011-2339:2012-305-T g.chr11:56113811T>G uc010rjg.1 + 1 297 c.297T>G c.(295-297)TCT>TCG p.S99S NM_001002907 NP_001002907 PZP 5858 broad.mit.edu 37 12 9321453 9321453 + Intron SNP T C C 2011-2339:2012-305-T g.chr12:9321453T>C uc001qvl.2 - PZP_uc009zgl.2_Intron|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_Intron NM_002864 NP_002855 MLL2 8085 broad.mit.edu 37 12 49424325 49424325 + Intron SNP C T T 2011-2339:2012-305-T g.chr12:49424325C>T uc001rta.3 - NM_003482 NP_003473 RB1 5925 broad.mit.edu 37 13 48916580 48916580 + Intron SNP A T T 2011-2339:2012-305-T g.chr13:48916580A>T uc001vcb.2 + RB1_uc010acs.1_Intron NM_000321 NP_000312 FAM179B 23116 broad.mit.edu 37 14 45513997 45513997 + Missense_Mutation SNP G C C 2011-2339:2012-305-T g.chr14:45513997G>C uc001wvv.2 + 13 4287 c.4078G>C c.(4078-4080)GAC>CAC p.D1360H FAM179B_uc001wvw.2_Missense_Mutation_p.D1360H|FAM179B_uc010anc.2_RNA NM_015091 NP_055906 NRXN3 9369 broad.mit.edu 37 14 80312067 80312067 + Intron SNP G C C 2011-2339:2012-305-T g.chr14:80312067G>C uc001xun.2 + NRXN3_uc001xum.1_Intron|NRXN3_uc001xup.2_Intron|NRXN3_uc001xuq.2_Intron|NRXN3_uc010asw.2_Intron|NRXN3_uc001xur.3_Intron NM_004796 NP_004787 NTRK3 4916 broad.mit.edu 37 15 88423598 88423598 + Missense_Mutation SNP T G G 2011-2339:2012-305-T g.chr15:88423598T>G uc002bme.1 - 18 2399 c.2237A>C c.(2236-2238)AAG>ACG p.K746T NTRK3_uc002bmh.2_Missense_Mutation_p.K724T|NTRK3_uc002bmf.1_Missense_Mutation_p.K732T NM_001012338 NP_001012338 GEMIN4 50628 broad.mit.edu 37 17 652363 652363 + Intron SNP A G G rs59541183 2011-2339:2012-305-T g.chr17:652363A>G uc002frs.1 - GEMIN4_uc010vqa.1_Intron NM_015721 NP_056536 NOTCH3 4854 broad.mit.edu 37 19 15303304 15303304 + Missense_Mutation SNP C T T rs145069047 2011-2339:2012-305-T g.chr19:15303304C>T uc002nan.2 - 3 300 c.224G>A c.(223-225)CGG>CAG p.R75Q NOTCH3_uc002nao.1_Missense_Mutation_p.R75Q NM_000435 NP_000426 PEG3 5178 broad.mit.edu 37 19 57327776 57327776 + Silent SNP A C C 2011-2339:2012-305-T g.chr19:57327776A>C uc002qnu.2 - 7 2385 c.2034T>G c.(2032-2034)ACT>ACG p.T678T ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.T649T|PEG3_uc002qnv.2_Silent_p.T678T|PEG3_uc002qnw.2_Silent_p.T554T|PEG3_uc002qnx.2_Silent_p.T552T|PEG3_uc010etr.2_Silent_p.T678T NM_001146186 NP_001139658 APOB 338 broad.mit.edu 37 2 21231285 21231285 + Missense_Mutation SNP T A A 2011-2339:2012-305-T g.chr2:21231285T>A uc002red.2 - 26 8583 c.8455A>T c.(8455-8457)ATT>TTT p.I2819F NM_000384 NP_000375 LRP1B 53353 broad.mit.edu 37 2 141459917 141459917 + Intron SNP A C C 2011-2339:2012-305-T g.chr2:141459917A>C uc002tvj.1 - NM_018557 NP_061027 TTN 7273 broad.mit.edu 37 2 179483394 179483394 + Missense_Mutation SNP T G G 2011-2339:2012-305-T g.chr2:179483394T>G uc010zfg.1 - 200 39403 c.39179A>C c.(39178-39180)AAG>ACG p.K13060T TTN_uc010zfh.1_Missense_Mutation_p.K6755T|TTN_uc010zfi.1_Missense_Mutation_p.K6688T|TTN_uc010zfj.1_Missense_Mutation_p.K6563T NM_133378 NP_596869 PAX3 5077 broad.mit.edu 37 2 223160203 223160203 + Intron SNP C A A 2011-2339:2012-305-T g.chr2:223160203C>A uc010fwo.2 - PAX3_uc002vmt.1_Intron|PAX3_uc002vmy.1_Intron|PAX3_uc002vmv.1_Intron|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron|PAX3_uc002vmz.1_Intron|PAX3_uc002vna.1_Intron|CCDC140_uc002vnb.1_5'Flank NM_181457 NP_852122 CUL3 8452 broad.mit.edu 37 2 225346587 225346587 + Intron SNP G A A 2011-2339:2012-305-T g.chr2:225346587G>A uc002vny.2 - CUL3_uc010zls.1_Intron|CUL3_uc010fwy.1_Intron NM_003590 NP_003581 ASXL1 171023 broad.mit.edu 37 20 30945745 30945745 + 5'Flank SNP A C C 2011-2339:2012-305-T g.chr20:30945745A>C uc002wxs.2 + ASXL1_uc002wxr.1_5'Flank NM_015338 NP_056153 COL18A1 80781 broad.mit.edu 37 21 46863017 46863017 + Intron SNP G A A 2011-2339:2012-305-T g.chr21:46863017G>A uc002zhg.2 + NM_130445 NP_569712 COL18A1 80781 broad.mit.edu 37 21 46863038 46863038 + Intron SNP G C C rs141985054 by1000genomes 2011-2339:2012-305-T g.chr21:46863038G>C uc002zhg.2 + NM_130445 NP_569712 CHCHD6 84303 broad.mit.edu 37 3 126581396 126581396 + Intron SNP C T T 2011-2339:2012-305-T g.chr3:126581396C>T uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 FAT1 2195 broad.mit.edu 37 4 187541246 187541246 + Missense_Mutation SNP G A A 2011-2339:2012-305-T g.chr4:187541246G>A uc003izf.2 - 10 6682 c.6494C>T c.(6493-6495)TCA>TTA p.S2165L NM_005245 NP_005236 IL6ST 3572 broad.mit.edu 37 5 55256365 55256365 + Missense_Mutation SNP T C C 2011-2339:2012-305-T g.chr5:55256365T>C uc003jqq.2 - 8 1093 c.838A>G c.(838-840)ACC>GCC p.T280A IL6ST_uc010iwb.2_Missense_Mutation_p.T280A|IL6ST_uc010iwc.2_Missense_Mutation_p.T114A|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_5'UTR|IL6ST_uc003jqr.2_Missense_Mutation_p.T280A NM_002184 NP_002175 SYNE1 23345 broad.mit.edu 37 6 152712521 152712521 + Missense_Mutation SNP G T T 2011-2339:2012-305-T g.chr6:152712521G>T uc010kiw.2 - 52 8497 c.7895C>A c.(7894-7896)GCA>GAA p.A2632E SYNE1_uc003qot.3_Missense_Mutation_p.A2639E|SYNE1_uc003qou.3_Missense_Mutation_p.A2632E|SYNE1_uc010kjb.1_Missense_Mutation_p.A2615E NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152754837 152754837 + Intron SNP T G G 2011-2339:2012-305-T g.chr6:152754837T>G uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qow.2_Intron NM_182961 NP_892006 PKHD1L1 93035 broad.mit.edu 37 8 110471831 110471831 + Missense_Mutation SNP C G G 2011-2339:2012-305-T g.chr8:110471831C>G uc003yne.2 + 47 7116 c.7012C>G c.(7012-7014)CAA>GAA p.Q2338E NM_177531 NP_803875 CSMD3 114788 broad.mit.edu 37 8 113392740 113392740 + Intron SNP A C C 2011-2339:2012-305-T g.chr8:113392740A>C uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113668530 113668530 + Missense_Mutation SNP C G G 2011-2339:2012-305-T g.chr8:113668530C>G uc003ynu.2 - 18 3016 c.2857G>C c.(2857-2859)GAT>CAT p.D953H CSMD3_uc003yns.2_Missense_Mutation_p.D225H|CSMD3_uc003ynt.2_Missense_Mutation_p.D913H|CSMD3_uc011lhx.1_Missense_Mutation_p.D849H NM_198123 NP_937756 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G A A rs121913388 2011-2339:2012-305-T g.chr9:21971120G>A uc003zpk.2 - 2 450 c.238C>T c.(238-240)CGA>TGA p.R80* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L NM_000077 NP_000068 OLFM1 10439 broad.mit.edu 37 9 138011289 138011289 + Intron SNP G A A 2011-2339:2012-305-T g.chr9:138011289G>A uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfn.3_Intron NM_014279 NP_055094 SCNN1D 6339 broad.mit.edu 37 1 1225004 1225004 + Intron SNP T C C 2011-2340:2012-304-T g.chr1:1225004T>C uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 LOC200030 200030 broad.mit.edu 37 1 148346785 148346785 + 5'UTR SNP T C C 2011-2340:2012-304-T g.chr1:148346785T>C uc001eqf.2 - 1 LOC200030_uc001eqe.2_5'UTR|LOC200030_uc001eqg.2_5'UTR|NBPF14_uc009wkf.1_RNA|uc001erd.3_5'UTR|uc001erc.3_RNA|uc010paj.1_5'UTR|uc010pav.1_5'UTR|uc010paw.1_5'UTR NM_017940 NP_060410 FAIM3 9214 broad.mit.edu 37 1 207097587 207097587 + 5'Flank SNP C T T 2011-2340:2012-304-T g.chr1:207097587C>T uc001hey.2 - FAIM3_uc010prz.1_5'Flank|FAIM3_uc010psa.1_5'Flank|FAIM3_uc010psb.1_5'Flank NM_005449 NP_005440 PHKG2 5261 broad.mit.edu 37 16 30760549 30760549 + Intron SNP T G G 2011-2340:2012-304-T g.chr16:30760549T>G uc002dzk.1 + PHKG2_uc002dzi.1_Intron|PHKG2_uc002dzj.1_Intron|PHKG2_uc002dzl.1_Intron NM_000294 NP_000285 ATP9B 374868 broad.mit.edu 37 18 77087945 77087946 + Intron DNP CG TC TC 2011-2340:2012-304-T g.chr18:77087945_77087946CG>TC uc002lmx.2 + ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Intron|ATP9B_uc002lmz.1_Intron NM_198531 NP_940933 RMND5A 64795 broad.mit.edu 37 2 87623796 87623796 + Intron SNP C G G 2011-2340:2012-304-T g.chr2:87623796C>G uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87655763 87655763 + Intron SNP G A A 2011-2340:2012-304-T g.chr2:87655763G>A uc002srs.3 + SUMF1 285362 broad.mit.edu 37 3 4491061 4491061 + Intron SNP T C C 2011-2340:2012-304-T g.chr3:4491061T>C uc003bpz.1 - SUMF1_uc003bps.1_Intron|SUMF1_uc011ass.1_Intron|SUMF1_uc010hby.1_Intron|SUMF1_uc011ast.1_Intron NM_182760 NP_877437 FAT4 79633 broad.mit.edu 37 4 126237374 126237374 + 5'Flank SNP G T T 2011-2340:2012-304-T g.chr4:126237374G>T uc003ifj.3 + NM_024582 NP_078858 TSC1 7248 broad.mit.edu 37 9 135779005 135779005 + Intron SNP G T T 2011-2340:2012-304-T g.chr9:135779005G>T uc004cca.2 - TSC1_uc004ccb.3_Intron|TSC1_uc011mcq.1_Intron|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 SCNN1D 6339 broad.mit.edu 37 1 1223597 1223597 + Intron SNP C T T 2011-2341:2012-303-T g.chr1:1223597C>T uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 MACF1 23499 broad.mit.edu 37 1 39751350 39751350 + Silent SNP A G G 2011-2341:2012-303-T g.chr1:39751350A>G uc010ois.1 + 15 1648 c.1443A>G c.(1441-1443)GAA>GAG p.E481E MACF1_uc001cda.1_Silent_p.E389E NM_012090 NP_036222 PTPRF 5792 broad.mit.edu 37 1 44069490 44069490 + Missense_Mutation SNP C G G 2011-2341:2012-303-T g.chr1:44069490C>G uc001cjr.2 + 16 3007 c.2667C>G c.(2665-2667)ATC>ATG p.I889M PTPRF_uc001cjs.2_Missense_Mutation_p.I880M|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Missense_Mutation_p.I449M|PTPRF_uc001cjv.2_Missense_Mutation_p.I349M|PTPRF_uc001cjw.2_Missense_Mutation_p.I115M NM_002840 NP_002831 PTPRF 5792 broad.mit.edu 37 1 44085025 44085025 + Silent SNP G A A 2011-2341:2012-303-T g.chr1:44085025G>A uc001cjr.2 + 28 5053 c.4713G>A c.(4711-4713)GAG>GAA p.E1571E PTPRF_uc001cjs.2_Silent_p.E1562E|PTPRF_uc001cju.2_Silent_p.E960E|PTPRF_uc009vwt.2_Silent_p.E1131E|PTPRF_uc001cjv.2_Silent_p.E1042E|PTPRF_uc001cjw.2_Silent_p.E797E NM_002840 NP_002831 RBM15 64783 broad.mit.edu 37 1 110888133 110888133 + Intron SNP G C C 2011-2341:2012-303-T g.chr1:110888133G>C uc001dzl.1 + RBM15_uc001dzm.1_Intron|uc001dzn.1_RNA NM_022768 NP_073605 FLG 2312 broad.mit.edu 37 1 152285696 152285696 + Missense_Mutation SNP C G G 2011-2341:2012-303-T g.chr1:152285696C>G uc001ezu.1 - 3 1702 c.1666G>C c.(1666-1668)GAT>CAT p.D556H uc001ezv.2_5'Flank NM_002016 NP_002007 FLG 2312 broad.mit.edu 37 1 152286074 152286074 + Missense_Mutation SNP C T T 2011-2341:2012-303-T g.chr1:152286074C>T uc001ezu.1 - 3 1324 c.1288G>A c.(1288-1290)GAA>AAA p.E430K uc001ezv.2_RNA NM_002016 NP_002007 FLG 2312 broad.mit.edu 37 1 152286406 152286406 + Missense_Mutation SNP C A A 2011-2341:2012-303-T g.chr1:152286406C>A uc001ezu.1 - 3 992 c.956G>T c.(955-957)AGA>ATA p.R319I uc001ezv.2_RNA NM_002016 NP_002007 FLG 2312 broad.mit.edu 37 1 152286801 152286801 + Missense_Mutation SNP C G G rs146383574 2011-2341:2012-303-T g.chr1:152286801C>G uc001ezu.1 - 3 597 c.561G>C c.(559-561)AAG>AAC p.K187N uc001ezv.2_Intron NM_002016 NP_002007 FLG 2312 broad.mit.edu 37 1 152287258 152287258 + Intron SNP C G G 2011-2341:2012-303-T g.chr1:152287258C>G uc001ezu.1 - uc001ezv.2_RNA NM_002016 NP_002007 SPTA1 6708 broad.mit.edu 37 1 158632693 158632693 + Missense_Mutation SNP C G G 2011-2341:2012-303-T g.chr1:158632693C>G uc001fst.1 - 17 2462 c.2263G>C c.(2263-2265)GAA>CAA p.E755Q NM_003126 NP_003117 DDR2 4921 broad.mit.edu 37 1 162741699 162741699 + Intron SNP G C C 2011-2341:2012-303-T g.chr1:162741699G>C uc001gcf.2 + DDR2_uc001gcg.2_Intron NM_001014796 NP_001014796 USH2A 7399 broad.mit.edu 37 1 216051212 216051212 + Missense_Mutation SNP G C C 2011-2341:2012-303-T g.chr1:216051212G>C uc001hku.1 - 43 8956 c.8569C>G c.(8569-8571)CTG>GTG p.L2857V NM_206933 NP_996816 CUBN 8029 broad.mit.edu 37 10 16982153 16982153 + Missense_Mutation SNP C T T 2011-2341:2012-303-T g.chr10:16982153C>T uc001ioo.2 - 37 5478 c.5426G>A c.(5425-5427)GGA>GAA p.G1809E NM_001081 NP_001072 ATM 472 broad.mit.edu 37 11 108181089 108181089 + Intron SNP G T T 2011-2341:2012-303-T g.chr11:108181089G>T uc001pkb.1 + ATM_uc009yxr.1_Intron|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Intron|ATM_uc001pkg.1_Intron|ATM_uc009yxt.1_Intron NM_000051 NP_000042 PDE3A 5139 broad.mit.edu 37 12 20787913 20787913 + Missense_Mutation SNP G A A 2011-2341:2012-303-T g.chr12:20787913G>A uc001reh.1 + 8 1946 c.1924G>A c.(1924-1926)GAA>AAA p.E642K NM_000921 NP_000912 DCTN2 10540 broad.mit.edu 37 12 57925928 57925928 + Intron SNP T C C 2011-2341:2012-303-T g.chr12:57925928T>C uc001som.1 - DCTN2_uc009zpu.1_Intron|DCTN2_uc009zpv.1_Intron|DCTN2_uc009zpw.1_Intron|DCTN2_uc001soo.1_Intron|DCTN2_uc001son.1_Intron|DCTN2_uc001sop.1_Intron|DCTN2_uc001soq.1_Intron|DCTN2_uc009zpx.1_Intron NM_006400 NP_006391 GPC5 2262 broad.mit.edu 37 13 92380846 92380846 + Missense_Mutation SNP G C C 2011-2341:2012-303-T g.chr13:92380846G>C uc010tif.1 + 4 1447 c.1081G>C c.(1081-1083)GAT>CAT p.D361H NM_004466 NP_004457 GPC5 2262 broad.mit.edu 37 13 92380849 92380849 + Nonsense_Mutation SNP C T T 2011-2341:2012-303-T g.chr13:92380849C>T uc010tif.1 + 4 1450 c.1084C>T c.(1084-1086)CAG>TAG p.Q362* NM_004466 NP_004457 TFDP1 7027 broad.mit.edu 37 13 114279541 114279541 + Intron SNP C G G 2011-2341:2012-303-T g.chr13:114279541C>G uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 MYH6 4624 broad.mit.edu 37 14 23861798 23861798 + Silent SNP T C C 2011-2341:2012-303-T g.chr14:23861798T>C uc001wjv.2 - 25 3382 c.3315A>G c.(3313-3315)CAA>CAG p.Q1105Q NM_002471 NP_002462 FANCM 57697 broad.mit.edu 37 14 45633567 45633567 + Silent SNP G A A 2011-2341:2012-303-T g.chr14:45633567G>A uc001wwd.3 + 10 1686 c.1587G>A c.(1585-1587)GTG>GTA p.V529V FANCM_uc001wwc.2_Silent_p.V529V|FANCM_uc010anf.2_Silent_p.V503V|FANCM_uc001wwe.3_Intron NM_020937 NP_065988 SYNE2 23224 broad.mit.edu 37 14 64489540 64489540 + Missense_Mutation SNP G C C 2011-2341:2012-303-T g.chr14:64489540G>C uc001xgm.2 + 38 5826 c.5596G>C c.(5596-5598)GAA>CAA p.E1866Q SYNE2_uc001xgl.2_Missense_Mutation_p.E1866Q NM_015180 NP_055995 TRIP11 9321 broad.mit.edu 37 14 92481012 92481012 + Intron SNP C T T 2011-2341:2012-303-T g.chr14:92481012C>T uc001xzy.2 - TRIP11_uc010auf.1_Intron NM_004239 NP_004230 DICER1 23405 broad.mit.edu 37 14 95607131 95607131 + Intron SNP T C C 2011-2341:2012-303-T g.chr14:95607131T>C uc001ydw.2 - DICER1_uc001ydx.2_Intron|DICER1_uc001ydz.1_Intron|DICER1_uc001yea.1_Intron|DICER1_uc001yeb.1_Intron|DICER1_uc001yec.1_Intron|hsa-mir-3173|MI0014204_5'Flank NM_030621 NP_085124 B2M 567 broad.mit.edu 37 15 45010089 45010089 + 3'UTR SNP C G G 2011-2341:2012-303-T g.chr15:45010089C>G uc001zuc.2 + 4 NM_004048 NP_004039 TLN2 83660 broad.mit.edu 37 15 63004083 63004083 + Intron SNP G A A 2011-2341:2012-303-T g.chr15:63004083G>A uc002alb.3 + NM_015059 NP_055874 RAB11FIP3 9727 broad.mit.edu 37 16 554070 554070 + Intron SNP C A A 2011-2341:2012-303-T g.chr16:554070C>A uc002chf.2 + RAB11FIP3_uc010uuf.1_Intron|RAB11FIP3_uc010uug.1_Intron NM_014700 NP_055515 DNAH3 55567 broad.mit.edu 37 16 21063269 21063269 + Intron SNP G C C 2011-2341:2012-303-T g.chr16:21063269G>C uc010vbe.1 - NM_017539 NP_060009 NOB1 28987 broad.mit.edu 37 16 69791154 69791154 + 5'Flank SNP C G G 2011-2341:2012-303-T g.chr16:69791154C>G uc002exs.2 - NM_014062 NP_054781 ANKRD11 29123 broad.mit.edu 37 16 89372860 89372860 + Intron SNP A C C 2011-2341:2012-303-T g.chr16:89372860A>C uc002fmx.1 - ANKRD11_uc002fmy.1_Intron|ANKRD11_uc002fnc.1_Intron|ANKRD11_uc002fnd.2_Intron|ANKRD11_uc002fne.2_Intron|ANKRD11_uc002fng.1_Intron|ANKRD11_uc002fnf.1_Intron NM_013275 NP_037407 TP53 7157 broad.mit.edu 37 17 7578176 7578176 + Splice_Site SNP C A A 2011-2341:2012-303-T g.chr17:7578176C>A uc002gim.2 - 6 866 c.672_splice c.e6+1 p.E224_splice TP53_uc002gig.1_Splice_Site_p.E224_splice|TP53_uc002gih.2_Splice_Site_p.E224_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.E92_splice|TP53_uc010cng.1_Splice_Site_p.E92_splice|TP53_uc002gii.1_Splice_Site_p.E92_splice|TP53_uc010cnh.1_Splice_Site_p.E224_splice|TP53_uc010cni.1_Splice_Site_p.E224_splice|TP53_uc002gij.2_Splice_Site_p.E224_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.E131_splice|TP53_uc002gio.2_Splice_Site_p.E92_splice|TP53_uc010vug.1_Missense_Mutation_p.V186F NM_001126112 NP_001119584 TP53 7157 broad.mit.edu 37 17 7578785 7578785 + Intron SNP C G G 2011-2341:2012-303-T g.chr17:7578785C>G uc002gim.2 - TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Intron|TP53_uc010cni.1_Intron|TP53_uc002gij.2_Intron|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Intron NM_001126112 NP_001119584 NF1 4763 broad.mit.edu 37 17 29661966 29661966 + Missense_Mutation SNP C T T 2011-2341:2012-303-T g.chr17:29661966C>T uc002hgg.2 + 40 6256 c.5923C>T c.(5923-5925)CTT>TTT p.L1975F NF1_uc002hgh.2_Missense_Mutation_p.L1954F|NF1_uc010cso.2_Missense_Mutation_p.L163F|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank NM_001042492 NP_001035957 BRIP1 83990 broad.mit.edu 37 17 59853836 59853836 + Missense_Mutation SNP C T T 2011-2341:2012-303-T g.chr17:59853836C>T uc002izk.1 - 14 2164 c.2023G>A c.(2023-2025)GAA>AAA p.E675K BRIP1_uc002izl.1_Missense_Mutation_p.E56K NM_032043 NP_114432 ABCA9 10350 broad.mit.edu 37 17 67028361 67028361 + Missense_Mutation SNP G C C 2011-2341:2012-303-T g.chr17:67028361G>C uc002jhu.2 - 10 1476 c.1333C>G c.(1333-1335)CAA>GAA p.Q445E ABCA9_uc010dez.2_Missense_Mutation_p.Q445E NM_080283 NP_525022 ZNF521 25925 broad.mit.edu 37 18 22805114 22805114 + Missense_Mutation SNP G T T 2011-2341:2012-303-T g.chr18:22805114G>T uc002kvk.2 - 4 3015 c.2768C>A c.(2767-2769)GCT>GAT p.A923D ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.A923D|ZNF521_uc002kvl.2_Missense_Mutation_p.A703D NM_015461 NP_056276 ZNF521 25925 broad.mit.edu 37 18 22806740 22806740 + Missense_Mutation SNP C G G 2011-2341:2012-303-T g.chr18:22806740C>G uc002kvk.2 - 4 1389 c.1142G>C c.(1141-1143)CGA>CCA p.R381P ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.R381P|ZNF521_uc002kvl.2_Missense_Mutation_p.R161P NM_015461 NP_056276 NOTCH3 4854 broad.mit.edu 37 19 15295602 15295602 + Intron SNP C G G 2011-2341:2012-303-T g.chr19:15295602C>G uc002nan.2 - NOTCH3_uc002nao.1_Intron NM_000435 NP_000426 NOTCH3 4854 broad.mit.edu 37 19 15295606 15295606 + Intron SNP C T T 2011-2341:2012-303-T g.chr19:15295606C>T uc002nan.2 - NOTCH3_uc002nao.1_Intron NM_000435 NP_000426 NOTCH3 4854 broad.mit.edu 37 19 15296171 15296171 + Missense_Mutation SNP C G G 2011-2341:2012-303-T g.chr19:15296171C>G uc002nan.2 - 14 2269 c.2193G>C c.(2191-2193)CAG>CAC p.Q731H NOTCH3_uc002nao.1_Missense_Mutation_p.Q731H NM_000435 NP_000426 APOB 338 broad.mit.edu 37 2 21249778 21249778 + Missense_Mutation SNP C T T 2011-2341:2012-303-T g.chr2:21249778C>T uc002red.2 - 15 2254 c.2126G>A c.(2125-2127)GGA>GAA p.G709E NM_000384 NP_000375 LRP1B 53353 broad.mit.edu 37 2 141242919 141242919 + Nonsense_Mutation SNP G A A 2011-2341:2012-303-T g.chr2:141242919G>A uc002tvj.1 - 59 10390 c.9418C>T c.(9418-9420)CAA>TAA p.Q3140* NM_018557 NP_061027 TTN 7273 broad.mit.edu 37 2 179412268 179412268 + Missense_Mutation SNP C T T 2011-2341:2012-303-T g.chr2:179412268C>T uc010zfg.1 - 288 86605 c.86381G>A c.(86380-86382)AGT>AAT p.S28794N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S22489N|TTN_uc010zfi.1_Missense_Mutation_p.S22422N|TTN_uc010zfj.1_Missense_Mutation_p.S22297N NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179516030 179516030 + Missense_Mutation SNP C G G 2011-2341:2012-303-T g.chr2:179516030C>G uc010zfg.1 - 162 32487 c.32263G>C c.(32263-32265)GAA>CAA p.E10755Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_RNA|TTN_uc002umx.1_5'UTR NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179571384 179571384 + Silent SNP C T T 2011-2341:2012-303-T g.chr2:179571384C>T uc010zfg.1 - 99 25709 c.25485G>A c.(25483-25485)CTG>CTA p.L8495L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L5156L NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179603127 179603127 + Intron SNP C G G 2011-2341:2012-303-T g.chr2:179603127C>G uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133378 NP_596869 PMS1 5378 broad.mit.edu 37 2 190648976 190648976 + 5'UTR SNP C T T 2011-2341:2012-303-T g.chr2:190648976C>T uc002urh.3 + 1 PMS1_uc010zga.1_5'UTR|PMS1_uc010zgb.1_5'UTR|PMS1_uc002urk.3_5'UTR|PMS1_uc002uri.3_5'UTR|PMS1_uc010zgc.1_5'UTR|PMS1_uc010zgd.1_5'UTR|PMS1_uc002urj.2_5'Flank|ORMDL1_uc002urb.3_5'Flank|ORMDL1_uc002urc.3_5'Flank|ORMDL1_uc002urd.3_Intron|ORMDL1_uc002ure.3_Intron|ORMDL1_uc002urf.3_Intron|PMS1_uc010zfz.1_5'UTR NM_000534 NP_000525 PMS1 5378 broad.mit.edu 37 2 190718990 190718990 + Missense_Mutation SNP A G G 2011-2341:2012-303-T g.chr2:190718990A>G uc002urh.3 + 9 1521 c.992A>G c.(991-993)AAT>AGT p.N331S PMS1_uc010zga.1_Missense_Mutation_p.N292S|PMS1_uc010zgb.1_Missense_Mutation_p.N270S|PMS1_uc002urk.3_Missense_Mutation_p.N292S|PMS1_uc002uri.3_Missense_Mutation_p.N331S|PMS1_uc010zgc.1_Missense_Mutation_p.N155S|PMS1_uc010zgd.1_Missense_Mutation_p.N155S|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.N292S|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.N116S|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_5'UTR NM_000534 NP_000525 TRPM2 7226 broad.mit.edu 37 21 45815973 45815973 + Intron SNP G A A 2011-2341:2012-303-T g.chr21:45815973G>A uc002zet.1 + TRPM2_uc002zeu.1_Intron|TRPM2_uc002zew.1_Intron|TRPM2_uc010gpt.1_Intron|TRPM2_uc002zex.1_Intron|TRPM2_uc002zey.1_Intron NM_003307 NP_003298 MICAL3 57553 broad.mit.edu 37 22 18359807 18359807 + Intron SNP G A A 2011-2341:2012-303-T g.chr22:18359807G>A uc002zng.3 - MICAL3_uc011agl.1_Intron|MICAL3_uc002znh.2_Intron|MICAL3_uc002znj.1_Intron|MICAL3_uc002znk.1_Intron|MICAL3_uc002znl.1_Intron|MICAL3_uc002znm.2_Intron|MICAL3_uc010grf.2_Intron NM_015241 NP_056056 MST1R 4486 broad.mit.edu 37 3 49936866 49936866 + Intron SNP C T T 2011-2341:2012-303-T g.chr3:49936866C>T uc003cxy.3 - MST1R_uc011bdd.1_Intron|MST1R_uc011bde.1_Intron|MST1R_uc011bdf.1_Intron|MST1R_uc011bdg.1_Intron NM_002447 NP_002438 NEK4 6787 broad.mit.edu 37 3 52767427 52767427 + Intron SNP C T T rs767418 by1000genomes 2011-2341:2012-303-T g.chr3:52767427C>T uc003dfq.3 - NEK4_uc011bej.1_Intron NM_003157 NP_003148 EPHA3 2042 broad.mit.edu 37 3 89156426 89156426 + 5'Flank SNP C T T 2011-2341:2012-303-T g.chr3:89156426C>T uc003dqy.2 + EPHA3_uc003dqx.1_5'Flank|EPHA3_uc010hon.1_5'Flank NM_005233 NP_005224 CEP63 80254 broad.mit.edu 37 3 134230065 134230065 + Intron SNP C G G 2011-2341:2012-303-T g.chr3:134230065C>G uc003eqo.1 + CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron NM_025180 NP_079456 CLSTN2 64084 broad.mit.edu 37 3 140167437 140167437 + Silent SNP C T T 2011-2341:2012-303-T g.chr3:140167437C>T uc003etn.2 + 6 1054 c.864C>T c.(862-864)TGC>TGT p.C288C CLSTN2_uc003etm.2_Silent_p.C288C NM_022131 NP_071414 SI 6476 broad.mit.edu 37 3 164716508 164716508 + Intron SNP C T T 2011-2341:2012-303-T g.chr3:164716508C>T uc003fei.2 - NM_001041 NP_001032 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 2011-2341:2012-303-T g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 TP63 8626 broad.mit.edu 37 3 189590995 189590995 + Intron SNP G C C 2011-2341:2012-303-T g.chr3:189590995G>C uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsa.2_3'UTR|TP63_uc003fsb.2_Intron|TP63_uc003fsc.2_Intron|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Intron NM_003722 NP_003713 TP63 8626 broad.mit.edu 37 3 189597673 189597673 + Intron SNP G C C 2011-2341:2012-303-T g.chr3:189597673G>C uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsb.2_Intron|TP63_uc003fsc.2_Intron|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Intron NM_003722 NP_003713 MUC4 4585 broad.mit.edu 37 3 195502789 195502789 + Intron SNP A G G 2011-2341:2012-303-T g.chr3:195502789A>G uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 WHSC1 7468 broad.mit.edu 37 4 1913891 1913891 + Intron SNP C T T 2011-2341:2012-303-T g.chr4:1913891C>T uc003gdz.3 + WHSC1_uc003geb.3_Intron|WHSC1_uc003gec.3_Intron|WHSC1_uc003ged.3_Intron|WHSC1_uc003gee.3_Intron|WHSC1_uc003gef.3_Intron|WHSC1_uc003gdx.2_Intron|WHSC1_uc003gdy.1_Intron|WHSC1_uc010icd.1_Intron|WHSC1_uc003gea.1_Intron|WHSC1_uc010ice.1_Intron|WHSC1_uc003geh.1_Intron NM_001042424 NP_001035889 WHSC1 7468 broad.mit.edu 37 4 1913896 1913896 + Intron SNP C A A 2011-2341:2012-303-T g.chr4:1913896C>A uc003gdz.3 + WHSC1_uc003geb.3_Intron|WHSC1_uc003gec.3_Intron|WHSC1_uc003ged.3_Intron|WHSC1_uc003gee.3_Intron|WHSC1_uc003gef.3_Intron|WHSC1_uc003gdx.2_Intron|WHSC1_uc003gdy.1_Intron|WHSC1_uc010icd.1_Intron|WHSC1_uc003gea.1_Intron|WHSC1_uc010ice.1_Intron|WHSC1_uc003geh.1_Intron NM_001042424 NP_001035889 SORCS2 57537 broad.mit.edu 37 4 7708340 7708340 + Intron SNP G A A 2011-2341:2012-303-T g.chr4:7708340G>A uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 SORCS2 57537 broad.mit.edu 37 4 7708493 7708493 + Intron SNP G C C 2011-2341:2012-303-T g.chr4:7708493G>C uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 TET2 54790 broad.mit.edu 37 4 106066583 106066583 + 5'Flank SNP C T T 2011-2341:2012-303-T g.chr4:106066583C>T uc003hxk.2 + TET2_uc011cez.1_5'Flank|TET2_uc010ilp.1_5'Flank|TET2_uc003hxi.1_5'Flank NM_001127208 NP_001120680 CTNND2 1501 broad.mit.edu 37 5 11022832 11022832 + Intron SNP C G G 2011-2341:2012-303-T g.chr5:11022832C>G uc003jfa.1 - CTNND2_uc010itt.2_Intron|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_Intron NM_001332 NP_001323 DNAH5 1767 broad.mit.edu 37 5 13829869 13829869 + Intron SNP C T T 2011-2341:2012-303-T g.chr5:13829869C>T uc003jfd.2 - NM_001369 NP_001360 TRIO 7204 broad.mit.edu 37 5 14403313 14403313 + Intron SNP G T T 2011-2341:2012-303-T g.chr5:14403313G>T uc003jff.2 + TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Intron NM_007118 NP_009049 CDH12 1010 broad.mit.edu 37 5 21842397 21842397 + Silent SNP G A A 2011-2341:2012-303-T g.chr5:21842397G>A uc010iuc.2 - 5 1145 c.687C>T c.(685-687)GTC>GTT p.V229V CDH12_uc011cno.1_Silent_p.V189V|CDH12_uc003jgk.2_Silent_p.V229V NM_004061 NP_004052 PCDHB4 56131 broad.mit.edu 37 5 140502049 140502049 + Missense_Mutation SNP G C C 2011-2341:2012-303-T g.chr5:140502049G>C uc003lip.1 + 1 469 c.469G>C c.(469-471)GAG>CAG p.E157Q NM_018938 NP_061761 SYNE1 23345 broad.mit.edu 37 6 152477214 152477214 + Missense_Mutation SNP C G G 2011-2341:2012-303-T g.chr6:152477214C>G uc010kiw.2 - 132 24411 c.23809G>C c.(23809-23811)GAG>CAG p.E7937Q SYNE1_uc010kiv.2_Missense_Mutation_p.E2461Q|SYNE1_uc003qos.3_Missense_Mutation_p.E2461Q|SYNE1_uc003qot.3_Missense_Mutation_p.E7866Q|SYNE1_uc003qou.3_Missense_Mutation_p.E7937Q|SYNE1_uc003qop.3_Missense_Mutation_p.E99Q|SYNE1_uc011eez.1_Missense_Mutation_p.E139Q|SYNE1_uc003qoq.3_Missense_Mutation_p.E139Q|SYNE1_uc003qor.3_Missense_Mutation_p.E837Q NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152771634 152771634 + Intron SNP G A A 2011-2341:2012-303-T g.chr6:152771634G>A uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qow.2_Intron|SYNE1_uc003qox.1_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152772334 152772334 + Nonsense_Mutation SNP G A A 2011-2341:2012-303-T g.chr6:152772334G>A uc010kiw.2 - 26 3636 c.3034C>T c.(3034-3036)CAA>TAA p.Q1012* SYNE1_uc003qot.3_Nonsense_Mutation_p.Q1019*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q1012*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q995*|SYNE1_uc003qow.2_Nonsense_Mutation_p.Q307*|SYNE1_uc003qox.1_Nonsense_Mutation_p.Q528* NM_182961 NP_892006 PARK2 5071 broad.mit.edu 37 6 162365097 162365097 + Intron SNP G C C 2011-2341:2012-303-T g.chr6:162365097G>C uc003qtx.3 - PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Intron|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Intron NM_004562 NP_004553 ADAP1 11033 broad.mit.edu 37 7 945412 945412 + Intron SNP A G G 2011-2341:2012-303-T g.chr7:945412A>G uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 VPS41 27072 broad.mit.edu 37 7 38816434 38816434 + Intron SNP C G G 2011-2341:2012-303-T g.chr7:38816434C>G uc003tgy.2 - VPS41_uc003tgz.2_Intron|VPS41_uc010kxn.2_Intron NM_014396 NP_055211 WBSCR17 64409 broad.mit.edu 37 7 70800751 70800751 + Intron SNP G C C 2011-2341:2012-303-T g.chr7:70800751G>C uc003tvy.2 + WBSCR17_uc003tvz.2_Intron NM_022479 NP_071924 PPP1R9A 55607 broad.mit.edu 37 7 94897935 94897935 + Silent SNP G C C 2011-2341:2012-303-T g.chr7:94897935G>C uc003unp.2 + 12 2955 c.2673G>C c.(2671-2673)GTG>GTC p.V891V PPP1R9A_uc010lfj.2_Silent_p.V913V|PPP1R9A_uc011kif.1_Silent_p.V891V|PPP1R9A_uc003unq.2_Silent_p.V891V|PPP1R9A_uc011kig.1_Silent_p.V891V|PPP1R9A_uc003unr.2_5'UTR NM_017650 NP_060120 CNTNAP2 26047 broad.mit.edu 37 7 146829588 146829588 + Silent SNP C T T 2011-2341:2012-303-T g.chr7:146829588C>T uc003weu.1 + 8 1851 c.1335C>T c.(1333-1335)ATC>ATT p.I445I NM_014141 NP_054860 RB1CC1 9821 broad.mit.edu 37 8 53571435 53571435 + Silent SNP G C C 2011-2341:2012-303-T g.chr8:53571435G>C uc003xre.3 - 13 2349 c.1791C>G c.(1789-1791)CTC>CTG p.L597L RB1CC1_uc003xrf.3_Silent_p.L597L NM_014781 NP_055596 RB1CC1 9821 broad.mit.edu 37 8 53596452 53596452 + Missense_Mutation SNP C G G 2011-2341:2012-303-T g.chr8:53596452C>G uc003xre.3 - 4 751 c.193G>C c.(193-195)GGG>CGG p.G65R RB1CC1_uc003xrf.3_Missense_Mutation_p.G65R NM_014781 NP_055596 ZFHX4 79776 broad.mit.edu 37 8 77617166 77617166 + Missense_Mutation SNP C A A 2011-2341:2012-303-T g.chr8:77617166C>A uc003yav.2 + 2 1230 c.843C>A c.(841-843)TTC>TTA p.F281L ZFHX4_uc003yat.1_Missense_Mutation_p.F281L|ZFHX4_uc003yau.1_Missense_Mutation_p.F281L|ZFHX4_uc003yaw.1_Missense_Mutation_p.F281L NM_024721 NP_078997 NECAB1 64168 broad.mit.edu 37 8 91893311 91893311 + Missense_Mutation SNP G A A 2011-2341:2012-303-T g.chr8:91893311G>A uc011lgg.1 + 5 504 c.310G>A c.(310-312)GAA>AAA p.E104K NM_022351 NP_071746 RIMS2 9699 broad.mit.edu 37 8 105260862 105260862 + Intron SNP G A A 2011-2341:2012-303-T g.chr8:105260862G>A uc003yls.2 + RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Intron|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 PHKA2 5256 broad.mit.edu 37 X 18938239 18938239 + Missense_Mutation SNP T A A 2011-2341:2012-303-T g.chrX:18938239T>A uc004cyv.3 - 18 2304 c.1874A>T c.(1873-1875)GAG>GTG p.E625V PHKA2_uc004cyu.3_5'UTR|PHKA2_uc010nfg.1_RNA NM_000292 NP_000283 HUWE1 10075 broad.mit.edu 37 X 53579966 53579966 + Intron SNP C T T 2011-2341:2012-303-T g.chrX:53579966C>T uc004dsp.2 - HUWE1_uc004dsn.2_Intron NM_031407 NP_113584 FAM5B 57795 broad.mit.edu 37 1 177247895 177247895 + Missense_Mutation SNP G T T 2011-2342:2012-302-T g.chr1:177247895G>T uc001glf.2 + 7 1521 c.1209G>T c.(1207-1209)CAG>CAT p.Q403H FAM5B_uc010pna.1_Missense_Mutation_p.Q153H|FAM5B_uc001glg.2_Missense_Mutation_p.Q298H NM_021165 NP_066988 GNG4 2786 broad.mit.edu 37 1 235734954 235734954 + Intron SNP G A A 2011-2342:2012-302-T g.chr1:235734954G>A uc001hxe.3 - GNG4_uc009xfz.2_Intron|GNG4_uc001hxh.3_Intron NM_001098722 NP_001092192 ODF3 113746 broad.mit.edu 37 11 196091 196091 + 5'Flank SNP G C C 2011-2342:2012-302-T g.chr11:196091G>C uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 F7 2155 broad.mit.edu 37 13 113761591 113761591 + Intron SNP G A A 2011-2342:2012-302-T g.chr13:113761591G>A uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 FANCA 2175 broad.mit.edu 37 16 89809284 89809284 + Missense_Mutation SNP A G G 2011-2342:2012-302-T g.chr16:89809284A>G uc002fou.1 - 37 3731 c.3689T>C c.(3688-3690)CTG>CCG p.L1230P FANCA_uc010vpn.1_Missense_Mutation_p.L1230P|FANCA_uc010vpo.1_Missense_Mutation_p.L316P NM_000135 NP_000126 SHC2 25759 broad.mit.edu 37 19 457975 457975 + Intron SNP T C C 2011-2342:2012-302-T g.chr19:457975T>C uc002loq.3 - NM_012435 NP_036567 CASP8 841 broad.mit.edu 37 2 202106032 202106032 + Intron SNP C T T rs6704688 by1000genomes 2011-2342:2012-302-T g.chr2:202106032C>T uc002uxr.1 + CASP8_uc010ftc.1_Intron|CASP8_uc002uxo.1_Intron|CASP8_uc002uxp.1_Intron|CASP8_uc002uxq.1_Intron|CASP8_uc002uxn.2_RNA NM_033355 NP_203519 RIPK4 54101 broad.mit.edu 37 21 43162071 43162071 + Missense_Mutation SNP G A A 2011-2342:2012-302-T g.chr21:43162071G>A uc002yzn.1 - 8 1330 c.1282C>T c.(1282-1284)CCG>TCG p.P428S NM_020639 NP_065690 UMODL1 89766 broad.mit.edu 37 21 43552802 43552802 + Intron SNP C G G rs73373663 by1000genomes 2011-2342:2012-302-T g.chr21:43552802C>G uc002zaf.1 + UMODL1_uc002zad.1_Intron|UMODL1_uc002zae.1_Intron|UMODL1_uc002zag.1_Intron|UMODL1_uc002zal.1_Intron|UMODL1_uc010gpa.1_Intron NM_001004416 NP_001004416 CECR5 27440 broad.mit.edu 37 22 17628121 17628121 + Intron SNP A G G rs34689774 2011-2342:2012-302-T g.chr22:17628121A>G uc002zmf.2 - CECR5_uc002zme.2_Intron|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Intron NM_033070 NP_149061 CECR5 27440 broad.mit.edu 37 22 17628123 17628123 + Intron SNP G A A rs34574674 2011-2342:2012-302-T g.chr22:17628123G>A uc002zmf.2 - CECR5_uc002zme.2_Intron|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Intron NM_033070 NP_149061 CECR5 27440 broad.mit.edu 37 22 17628125 17628125 + Intron SNP C A A 2011-2342:2012-302-T g.chr22:17628125C>A uc002zmf.2 - CECR5_uc002zme.2_Intron|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Intron NM_033070 NP_149061 TP63 8626 broad.mit.edu 37 3 189456774 189456774 + Intron SNP C T T 2011-2342:2012-302-T g.chr3:189456774C>T uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron NM_003722 NP_003713 HLA-B 3106 broad.mit.edu 37 6 31323141 31323141 + Missense_Mutation SNP C T T 2011-2342:2012-302-T g.chr6:31323141C>T uc003nth.2 - 4 902 c.848G>A c.(847-849)TGC>TAC p.C283Y HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.C162Y|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA NM_005514 NP_005505 EGFR 1956 broad.mit.edu 37 7 55235242 55235242 + Intron SNP T C C rs145662886 2011-2342:2012-302-T g.chr7:55235242T>C uc003tqk.2 + EGFR_uc003tqi.2_Intron|EGFR_uc003tqj.2_Intron|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Intron|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron NM_005228 NP_005219 C1orf159 54991 broad.mit.edu 37 1 1043743 1043743 + Intron SNP T C C rs12751333 by1000genomes 2011-2343:2012-334-T g.chr1:1043743T>C uc001act.2 - C1orf159_uc001acu.2_Intron|C1orf159_uc001acr.2_Intron|C1orf159_uc001acs.2_Intron|C1orf159_uc001acp.2_5'Flank NM_017891 NP_060361 C1orf173 127254 broad.mit.edu 37 1 75038805 75038805 + Silent SNP T C C 2011-2343:2012-334-T g.chr1:75038805T>C uc001dgg.2 - 14 2808 c.2589A>G c.(2587-2589)GCA>GCG p.A863A NM_001002912 NP_001002912 ABL2 27 broad.mit.edu 37 1 179087934 179087934 + Intron SNP T C C rs2171959 by1000genomes 2011-2343:2012-334-T g.chr1:179087934T>C uc001gmj.3 - ABL2_uc010pnf.1_Intron|ABL2_uc010png.1_Intron|ABL2_uc010pnh.1_Intron|ABL2_uc009wxe.2_Intron|ABL2_uc001gmg.3_Intron|ABL2_uc001gmi.3_Intron|ABL2_uc001gmh.3_Intron|ABL2_uc010pne.1_Intron|ABL2_uc009wxf.1_Intron|ABL2_uc001gmk.2_Intron NM_007314 NP_009298 PARP1 142 broad.mit.edu 37 1 226567172 226567172 + Intron SNP A C C rs2271345 by1000genomes 2011-2343:2012-334-T g.chr1:226567172A>C uc001hqd.3 - NM_001618 NP_001609 PCDH15 65217 broad.mit.edu 37 10 55779915 55779915 + Intron SNP G A A rs3812658 by1000genomes 2011-2343:2012-334-T g.chr10:55779915G>A uc001jju.1 - PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Intron|PCDH15_uc010qhw.1_Intron|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhy.1_Intron|PCDH15_uc010qhz.1_Intron|PCDH15_uc010qia.1_Intron|PCDH15_uc010qib.1_Intron|PCDH15_uc001jjw.2_Intron NM_033056 NP_149045 STK32C 282974 broad.mit.edu 37 10 134094532 134094532 + Intron SNP T C C rs112976163 by1000genomes 2011-2343:2012-334-T g.chr10:134094532T>C uc001lle.1 - STK32C_uc001lld.1_Intron|STK32C_uc010quu.1_Intron|STK32C_uc009ybc.1_Intron|STK32C_uc009ybd.1_Intron NM_173575 NP_775846 ANO4 121601 broad.mit.edu 37 12 101510371 101510371 + Intron SNP T G G rs349661 by1000genomes 2011-2343:2012-334-T g.chr12:101510371T>G uc010svm.1 + ANO4_uc001thw.2_Intron|ANO4_uc001thx.2_Intron|ANO4_uc001thy.2_Intron NM_178826 NP_849148 FLT3 2322 broad.mit.edu 37 13 28623699 28623699 + Intron SNP G T T rs9507985 by1000genomes 2011-2343:2012-334-T g.chr13:28623699G>T uc001urw.2 - FLT3_uc010aao.2_Intron|FLT3_uc010tdn.1_Intron NM_004119 NP_004110 TFDP1 7027 broad.mit.edu 37 13 114279913 114279913 + Intron SNP A T T 2011-2343:2012-334-T g.chr13:114279913A>T uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 SYNE2 23224 broad.mit.edu 37 14 64434701 64434701 + Intron SNP C T T rs1255892 by1000genomes 2011-2343:2012-334-T g.chr14:64434701C>T uc001xgm.2 + SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 TC2N 123036 broad.mit.edu 37 14 92265272 92265272 + Intron SNP G A A 2011-2343:2012-334-T g.chr14:92265272G>A uc001xzu.3 - TC2N_uc001xzt.3_Intron|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Intron NM_001128595 NP_001122067 SCNN1B 6338 broad.mit.edu 37 16 23327770 23327770 + Intron SNP T C C 2011-2343:2012-334-T g.chr16:23327770T>C uc002dln.2 + NM_000336 NP_000327 PRKCB 5579 broad.mit.edu 37 16 24104328 24104328 + Intron SNP A G G rs880824 by1000genomes 2011-2343:2012-334-T g.chr16:24104328A>G uc002dmd.2 + PRKCB_uc002dme.2_Intron NM_212535 NP_997700 HYDIN 54768 broad.mit.edu 37 16 70884540 70884540 + Missense_Mutation SNP G T T 2011-2343:2012-334-T g.chr16:70884540G>T uc002ezr.2 - 74 12587 c.12459C>A c.(12457-12459)TTC>TTA p.F4153L HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 MYH8 4626 broad.mit.edu 37 17 10318616 10318616 + Missense_Mutation SNP G T T 2011-2343:2012-334-T g.chr17:10318616G>T uc002gmm.2 - 8 829 c.734C>A c.(733-735)TCT>TAT p.S245Y uc002gml.1_Intron NM_002472 NP_002463 ABI3 51225 broad.mit.edu 37 17 47287067 47287067 + 5'Flank SNP A G G rs2233362 by1000genomes 2011-2343:2012-334-T g.chr17:47287067A>G uc002iop.1 + GNGT2_uc002ioo.1_5'Flank|ABI3_uc002ioq.1_5'Flank NM_016428 NP_057512 ACE 1636 broad.mit.edu 37 17 61571210 61571210 + Intron SNP C T T rs12709437 by1000genomes 2011-2343:2012-334-T g.chr17:61571210C>T uc002jau.1 + ACE_uc002jav.1_Intron|ACE_uc010ddv.1_Intron|ACE_uc010wpj.1_Intron|ACE_uc002jaw.1_Intron|ACE_uc010wpk.1_Intron NM_000789 NP_000780 ABCA6 23460 broad.mit.edu 37 17 67096924 67096924 + Intron SNP A T T 2011-2343:2012-334-T g.chr17:67096924A>T uc002jhw.1 - NM_080284 NP_525023 ABCA6 23460 broad.mit.edu 37 17 67099129 67099129 + Intron SNP A G G rs2364315 by1000genomes 2011-2343:2012-334-T g.chr17:67099129A>G uc002jhw.1 - NM_080284 NP_525023 ABCA6 23460 broad.mit.edu 37 17 67138138 67138138 + 5'Flank SNP C T T rs3744489 by1000genomes 2011-2343:2012-334-T g.chr17:67138138C>T uc002jhw.1 - ABCA6_uc002jhy.2_5'Flank NM_080284 NP_525023 TBCD 6904 broad.mit.edu 37 17 80857233 80857233 + Intron SNP G T T 2011-2343:2012-334-T g.chr17:80857233G>T uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kgb.1_Intron NM_005993 NP_005984 CDH2 1000 broad.mit.edu 37 18 25736581 25736581 + Intron SNP C T T rs33950804 by1000genomes 2011-2343:2012-334-T g.chr18:25736581C>T uc002kwg.2 - NM_001792 NP_001783 NOTCH3 4854 broad.mit.edu 37 19 15276007 15276007 + Intron SNP C A A rs2886698 by1000genomes 2011-2343:2012-334-T g.chr19:15276007C>A uc002nan.2 - NM_000435 NP_000426 ZNF331 55422 broad.mit.edu 37 19 54025201 54025201 + 5'UTR SNP A G G rs8100247 by1000genomes 2011-2343:2012-334-T g.chr19:54025201A>G uc002qbx.1 + 1 ZNF331_uc002qbw.1_RNA|ZNF331_uc002qby.1_5'UTR|ZNF331_uc002qbz.1_5'UTR NM_018555 NP_061025 LRP1B 53353 broad.mit.edu 37 2 141116448 141116448 + Missense_Mutation SNP C A A 2011-2343:2012-334-T g.chr2:141116448C>A uc002tvj.1 - 73 12171 c.11199G>T c.(11197-11199)GAG>GAT p.E3733D NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141253319 141253319 + Splice_Site SNP T A A 2011-2343:2012-334-T g.chr2:141253319T>A uc002tvj.1 - 56 9823 c.8851_splice c.e56-1 p.C2951_splice NM_018557 NP_061027 TTN 7273 broad.mit.edu 37 2 179582605 179582605 + Intron SNP A G G rs6750145 by1000genomes 2011-2343:2012-334-T g.chr2:179582605A>G uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179583398 179583398 + Intron SNP T C C rs62178978 by1000genomes 2011-2343:2012-334-T g.chr2:179583398T>C uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179587687 179587687 + Intron SNP T C C rs2742327 by1000genomes 2011-2343:2012-334-T g.chr2:179587687T>C uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133378 NP_596869 ABCA12 26154 broad.mit.edu 37 2 215855780 215855780 + Intron SNP G A A rs4533467 by1000genomes 2011-2343:2012-334-T g.chr2:215855780G>A uc002vew.2 - ABCA12_uc002vev.2_Intron|ABCA12_uc010zjn.1_Intron NM_173076 NP_775099 ANO7 50636 broad.mit.edu 37 2 242145271 242145271 + Intron SNP C G G rs75283011 by1000genomes 2011-2343:2012-334-T g.chr2:242145271C>G uc002wax.2 + NM_001001891 NP_001001891 PAK7 57144 broad.mit.edu 37 20 9543611 9543611 + Missense_Mutation SNP C T T 2011-2343:2012-334-T g.chr20:9543611C>T uc002wnl.2 - 7 2088 c.1543G>A c.(1543-1545)GTC>ATC p.V515I PAK7_uc002wnk.2_Missense_Mutation_p.V515I|PAK7_uc002wnj.2_Missense_Mutation_p.V515I|PAK7_uc010gby.1_Missense_Mutation_p.V515I NM_020341 NP_065074 CNTN6 27255 broad.mit.edu 37 3 1262387 1262387 + Missense_Mutation SNP C A A 2011-2343:2012-334-T g.chr3:1262387C>A uc003boz.2 + 3 339 c.72C>A c.(70-72)AGC>AGA p.S24R CNTN6_uc010hbo.2_Missense_Mutation_p.S19R|CNTN6_uc011asj.1_5'UTR|CNTN6_uc003bpa.2_Missense_Mutation_p.S24R NM_014461 NP_055276 FOXP1 27086 broad.mit.edu 37 3 71102799 71102799 + Silent SNP G A A 2011-2343:2012-334-T g.chr3:71102799G>A uc003dol.2 - 4 731 c.408C>T c.(406-408)CTC>CTT p.L136L FOXP1_uc003dom.2_Intron|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.L136L|FOXP1_uc003dop.2_Silent_p.L136L|FOXP1_uc003doq.1_Silent_p.L136L|FOXP1_uc003doi.2_Silent_p.L36L|FOXP1_uc003doj.2_Silent_p.L36L|FOXP1_uc003dok.2_Intron NM_032682 NP_116071 SI 6476 broad.mit.edu 37 3 164716435 164716435 + Missense_Mutation SNP C A A 2011-2343:2012-334-T g.chr3:164716435C>A uc003fei.2 - 38 4495 c.4433G>T c.(4432-4434)AGA>ATA p.R1478I NM_001041 NP_001032 SI 6476 broad.mit.edu 37 3 164741609 164741609 + Intron SNP T C C rs77622844 by1000genomes 2011-2343:2012-334-T g.chr3:164741609T>C uc003fei.2 - NM_001041 NP_001032 FBXW7 55294 broad.mit.edu 37 4 153247367 153247367 + Missense_Mutation SNP G C C 2011-2343:2012-334-T g.chr4:153247367G>C uc003ims.2 - 10 1584 c.1435C>G c.(1435-1437)CGA>GGA p.R479G FBXW7_uc011cii.1_Missense_Mutation_p.R479G|FBXW7_uc003imt.2_Missense_Mutation_p.R479G|FBXW7_uc011cih.1_Missense_Mutation_p.R303G|FBXW7_uc003imq.2_Missense_Mutation_p.R399G|FBXW7_uc003imr.2_Missense_Mutation_p.R361G NM_033632 NP_361014 DNAH5 1767 broad.mit.edu 37 5 13752191 13752191 + Intron SNP C T T rs115374116 by1000genomes 2011-2343:2012-334-T g.chr5:13752191C>T uc003jfd.2 - DNAH5_uc003jfc.2_Intron NM_001369 NP_001360 CDH10 1008 broad.mit.edu 37 5 24535730 24535730 + Intron SNP G A A 2011-2343:2012-334-T g.chr5:24535730G>A uc003jgr.1 - CDH10_uc011cnu.1_Intron NM_006727 NP_006718 MEF2C 4208 broad.mit.edu 37 5 88018509 88018509 + Missense_Mutation SNP G A A 2011-2343:2012-334-T g.chr5:88018509G>A uc003kjj.2 - 11 2007 c.1334C>T c.(1333-1335)TCC>TTC p.S445F MEF2C_uc003kji.2_Missense_Mutation_p.S437F|MEF2C_uc003kjk.2_Missense_Mutation_p.S445F|MEF2C_uc003kjm.2_Missense_Mutation_p.S435F|MEF2C_uc003kjl.2_Missense_Mutation_p.S455F NM_002397 NP_002388 RUFY1 80230 broad.mit.edu 37 5 178986978 178986978 + Intron SNP C G G rs7704349 by1000genomes 2011-2343:2012-334-T g.chr5:178986978C>G uc003mka.1 + RUFY1_uc003mkb.1_Intron|RUFY1_uc003mkc.1_5'UTR NM_025158 NP_079434 HLA-G 3135 broad.mit.edu 37 6 29893418 29893418 + Intron SNP G C C rs9259816 by1000genomes 2011-2343:2012-334-T g.chr6:29893418G>C uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HCG4P6_uc003noh.1_RNA|uc003noi.2_5'Flank NM_002127 NP_002118 SYNE1 23345 broad.mit.edu 37 6 152671661 152671661 + Intron SNP C A A 2011-2343:2012-334-T g.chr6:152671661C>A uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kja.1_Intron NM_182961 NP_892006 ZFHX4 79776 broad.mit.edu 37 8 77764101 77764101 + Silent SNP G T T 2011-2343:2012-334-T g.chr8:77764101G>T uc003yav.2 + 10 5196 c.4809G>T c.(4807-4809)GGG>GGT p.G1603G ZFHX4_uc003yau.1_Silent_p.G1648G|ZFHX4_uc003yaw.1_Silent_p.G1603G NM_024721 NP_078997 ZFHX4 79776 broad.mit.edu 37 8 77767653 77767653 + Silent SNP T C C 2011-2343:2012-334-T g.chr8:77767653T>C uc003yav.2 + 10 8748 c.8361T>C c.(8359-8361)GAT>GAC p.D2787D ZFHX4_uc003yau.1_Silent_p.D2832D|ZFHX4_uc003yaw.1_Silent_p.D2787D NM_024721 NP_078997 PKHD1L1 93035 broad.mit.edu 37 8 110522965 110522965 + Intron SNP T C C rs2607624 by1000genomes 2011-2343:2012-334-T g.chr8:110522965T>C uc003yne.2 + NM_177531 NP_803875 PKHD1L1 93035 broad.mit.edu 37 8 110527569 110527569 + Intron SNP A T T rs1783167 by1000genomes 2011-2343:2012-334-T g.chr8:110527569A>T uc003yne.2 + NM_177531 NP_803875 PKHD1L1 93035 broad.mit.edu 37 8 110530774 110530774 + Intron SNP T C C rs1783169 by1000genomes 2011-2343:2012-334-T g.chr8:110530774T>C uc003yne.2 + NM_177531 NP_803875 NFIB 4781 broad.mit.edu 37 9 14306884 14306884 + Intron SNP T C C rs10961471 by1000genomes 2011-2343:2012-334-T g.chr9:14306884T>C uc003zle.2 - NFIB_uc003zlf.2_Intron|NFIB_uc011lmo.1_Intron NM_005596 NP_005587 CDKN2A 1029 broad.mit.edu 37 9 21971111 21971111 + Missense_Mutation SNP G A A rs121913385 2011-2343:2012-334-T g.chr9:21971111G>A uc003zpk.2 - 2 459 c.247C>T c.(247-249)CAC>TAC p.H83Y MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.A138V NM_000077 NP_000068 NOTCH1 4851 broad.mit.edu 37 9 139400985 139400985 + Nonsense_Mutation SNP G T T 2011-2343:2012-334-T g.chr9:139400985G>T uc004chz.2 - 24 4008 c.4008C>A c.(4006-4008)TGC>TGA p.C1336* NOTCH1_uc004cia.1_Nonsense_Mutation_p.C566* NM_017617 NP_060087 MEGF6 1953 broad.mit.edu 37 1 3493264 3493264 + Intron SNP A T T rs2821056 by1000genomes 2011-2344:2012-333-T g.chr1:3493264A>T uc001akl.2 - NM_001409 NP_001400 KIF1B 23095 broad.mit.edu 37 1 10364046 10364046 + Intron SNP C T T 2011-2344:2012-333-T g.chr1:10364046C>T uc001aqx.3 + KIF1B_uc001aqv.3_Nonsense_Mutation_p.Q935*|KIF1B_uc001aqw.3_Intron|KIF1B_uc001aqy.2_Intron|KIF1B_uc001aqz.2_Intron|KIF1B_uc001ara.2_Intron|KIF1B_uc001arb.2_Intron NM_015074 NP_055889 EPHA2 1969 broad.mit.edu 37 1 16460443 16460443 + Intron SNP G A A 2011-2344:2012-333-T g.chr1:16460443G>A uc001aya.1 - NM_004431 NP_004422 MCOLN2 255231 broad.mit.edu 37 1 85424182 85424182 + Intron SNP A G G rs673998 by1000genomes 2011-2344:2012-333-T g.chr1:85424182A>G uc001dkm.2 - MCOLN2_uc001dkn.2_Intron NM_153259 NP_694991 FLG 2312 broad.mit.edu 37 1 152283422 152283422 + Missense_Mutation SNP C G G 2011-2344:2012-333-T g.chr1:152283422C>G uc001ezu.1 - 3 3976 c.3940G>C c.(3940-3942)GAA>CAA p.E1314Q uc001ezv.2_5'Flank NM_002016 NP_002007 USH2A 7399 broad.mit.edu 37 1 216062100 216062100 + Nonsense_Mutation SNP C A A 2011-2344:2012-333-T g.chr1:216062100C>A uc001hku.1 - 41 8278 c.7891G>T c.(7891-7893)GAG>TAG p.E2631* NM_206933 NP_996816 ADARB2 105 broad.mit.edu 37 10 1502751 1502751 + Intron SNP A T T rs141602997 2011-2344:2012-333-T g.chr10:1502751A>T uc009xhq.2 - NM_018702 NP_061172 CUBN 8029 broad.mit.edu 37 10 17145252 17145252 + Intron SNP T A A 2011-2344:2012-333-T g.chr10:17145252T>A uc001ioo.2 - NM_001081 NP_001072 ATM 472 broad.mit.edu 37 11 108188039 108188039 + Intron SNP C G G rs17107917 by1000genomes 2011-2344:2012-333-T g.chr11:108188039C>G uc001pkb.1 + ATM_uc009yxr.1_Intron|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Intron|ATM_uc001pkg.1_Intron NM_000051 NP_000042 ABCD2 225 broad.mit.edu 37 12 40010761 40010761 + Intron SNP T A A 2011-2344:2012-333-T g.chr12:40010761T>A uc001rmb.2 - NM_005164 NP_005155 F7 2155 broad.mit.edu 37 13 113761762 113761762 + Intron SNP A T T 2011-2344:2012-333-T g.chr13:113761762A>T uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 SYNE2 23224 broad.mit.edu 37 14 64467346 64467346 + Missense_Mutation SNP C T T 2011-2344:2012-333-T g.chr14:64467346C>T uc001xgm.2 + 28 3777 c.3547C>T c.(3547-3549)CAT>TAT p.H1183Y SYNE2_uc001xgl.2_Missense_Mutation_p.H1183Y NM_015180 NP_055995 NFATC3 4775 broad.mit.edu 37 16 68215401 68215401 + Missense_Mutation SNP G C C 2011-2344:2012-333-T g.chr16:68215401G>C uc002evo.1 + 7 2149 c.1939G>C c.(1939-1941)GAA>CAA p.E647Q NFATC3_uc010vkl.1_Missense_Mutation_p.E168Q|NFATC3_uc010vkm.1_Missense_Mutation_p.E168Q|NFATC3_uc010vkn.1_Missense_Mutation_p.E168Q|NFATC3_uc010vko.1_Missense_Mutation_p.E168Q|NFATC3_uc010vkp.1_Missense_Mutation_p.E168Q|NFATC3_uc010vkq.1_Missense_Mutation_p.E168Q|NFATC3_uc002evl.2_Missense_Mutation_p.E168Q|NFATC3_uc002evk.2_Missense_Mutation_p.E647Q|NFATC3_uc002evm.1_Missense_Mutation_p.E647Q|NFATC3_uc002evn.1_Missense_Mutation_p.E647Q|NFATC3_uc010vkr.1_Missense_Mutation_p.E168Q|NFATC3_uc010vks.1_Missense_Mutation_p.E168Q|NFATC3_uc010vkt.1_Missense_Mutation_p.E168Q|NFATC3_uc010vku.1_Missense_Mutation_p.E168Q|NFATC3_uc010vkv.1_Missense_Mutation_p.E168Q|NFATC3_uc010vkw.1_Missense_Mutation_p.E168Q|NFATC3_uc010vkx.1_Missense_Mutation_p.E168Q|NFATC3_uc010vky.1_Missense_Mutation_p.E168Q|NFATC3_uc010vkz.1_Missense_Mutation_p.E168Q|NFATC3_uc010vla.1_Missense_Mutation_p.E168Q|NFATC3_uc010vlb.1_Missense_Mutation_p.E168Q|NFATC3_uc010vlc.1_Missense_Mutation_p.E168Q NM_173165 NP_775188 NFATC3 4775 broad.mit.edu 37 16 68215488 68215488 + Intron SNP G A A 2011-2344:2012-333-T g.chr16:68215488G>A uc002evo.1 + NFATC3_uc010vkl.1_Intron|NFATC3_uc010vkm.1_Intron|NFATC3_uc010vkn.1_Intron|NFATC3_uc010vko.1_Intron|NFATC3_uc010vkp.1_Intron|NFATC3_uc010vkq.1_Intron|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Intron|NFATC3_uc002evm.1_Intron|NFATC3_uc002evn.1_Intron|NFATC3_uc010vkr.1_Intron|NFATC3_uc010vks.1_Intron|NFATC3_uc010vkt.1_Intron|NFATC3_uc010vku.1_Intron|NFATC3_uc010vkv.1_Intron|NFATC3_uc010vkw.1_Intron|NFATC3_uc010vkx.1_Intron|NFATC3_uc010vky.1_Intron|NFATC3_uc010vkz.1_Intron|NFATC3_uc010vla.1_Intron|NFATC3_uc010vlb.1_Intron|NFATC3_uc010vlc.1_Intron NM_173165 NP_775188 BZRAP1 9256 broad.mit.edu 37 17 56384983 56384983 + Missense_Mutation SNP G C C 2011-2344:2012-333-T g.chr17:56384983G>C uc002ivx.3 - 24 5843 c.4972C>G c.(4972-4974)CAG>GAG p.Q1658E BZRAP1_uc002ivv.2_5'Flank|BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Missense_Mutation_p.Q1598E|BZRAP1_uc010wnt.1_Missense_Mutation_p.Q1658E NM_004758 NP_004749 ZNF331 55422 broad.mit.edu 37 19 54079870 54079870 + Intron SNP T C C 2011-2344:2012-333-T g.chr19:54079870T>C uc002qbx.1 + ZNF331_uc002qby.1_Intron|ZNF331_uc002qbz.1_Intron|ZNF331_uc002qca.1_Intron|ZNF331_uc010eqr.1_Intron|ZNF331_uc002qcb.1_Intron|ZNF331_uc002qcc.1_Intron|ZNF331_uc002qcd.1_Intron NM_018555 NP_061025 RMND5A 64795 broad.mit.edu 37 2 87651733 87651733 + Intron SNP G A A 2011-2344:2012-333-T g.chr2:87651733G>A uc002srs.3 + LRP1B 53353 broad.mit.edu 37 2 141115606 141115606 + Silent SNP G T T 2011-2344:2012-333-T g.chr2:141115606G>T uc002tvj.1 - 74 12309 c.11337C>A c.(11335-11337)CTC>CTA p.L3779L NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141643746 141643746 + Missense_Mutation SNP C G G 2011-2344:2012-333-T g.chr2:141643746C>G uc002tvj.1 - 24 4897 c.3925G>C c.(3925-3927)GAA>CAA p.E1309Q LRP1B_uc010fnl.1_Missense_Mutation_p.E491Q NM_018557 NP_061027 TTN 7273 broad.mit.edu 37 2 179497613 179497613 + Intron SNP A G G 2011-2344:2012-333-T g.chr2:179497613A>G uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179587135 179587135 + Missense_Mutation SNP C G G 2011-2344:2012-333-T g.chr2:179587135C>G uc010zfg.1 - 74 18871 c.18647G>C c.(18646-18648)AGA>ACA p.R6216T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R2877T NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179635156 179635156 + Missense_Mutation SNP G C C 2011-2344:2012-333-T g.chr2:179635156G>C uc010zfg.1 - 35 8587 c.8363C>G c.(8362-8364)GCC>GGC p.A2788G TTN_uc010zfh.1_Missense_Mutation_p.A2742G|TTN_uc010zfi.1_Missense_Mutation_p.A2742G|TTN_uc010zfj.1_Missense_Mutation_p.A2742G|TTN_uc002unb.2_Missense_Mutation_p.A2788G NM_133378 NP_596869 PMS1 5378 broad.mit.edu 37 2 190719190 190719190 + Missense_Mutation SNP G A A 2011-2344:2012-333-T g.chr2:190719190G>A uc002urh.3 + 9 1721 c.1192G>A c.(1192-1194)GAA>AAA p.E398K PMS1_uc010zga.1_Missense_Mutation_p.E359K|PMS1_uc010zgb.1_Missense_Mutation_p.E337K|PMS1_uc002urk.3_Missense_Mutation_p.E359K|PMS1_uc002uri.3_Missense_Mutation_p.E398K|PMS1_uc010zgc.1_Missense_Mutation_p.E222K|PMS1_uc010zgd.1_Missense_Mutation_p.E222K|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.E359K|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.E183K|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.E66K NM_000534 NP_000525 PMS1 5378 broad.mit.edu 37 2 190741856 190741856 + Intron SNP C G G 2011-2344:2012-333-T g.chr2:190741856C>G uc002urh.3 + PMS1_uc002urk.3_Intron|PMS1_uc002uri.3_Intron|PMS1_uc010zgc.1_Intron|PMS1_uc010zgd.1_Intron|PMS1_uc002urj.2_Intron|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Intron|PMS1_uc002urm.2_Intron NM_000534 NP_000525 INPP1 3628 broad.mit.edu 37 2 191231273 191231273 + Intron SNP C A A rs9784054 by1000genomes 2011-2344:2012-333-T g.chr2:191231273C>A uc002ury.3 + INPP1_uc010fsb.2_Intron|INPP1_uc002urx.3_Intron NM_001128928 NP_001122400 MAP2 4133 broad.mit.edu 37 2 210561608 210561608 + Intron SNP G A A 2011-2344:2012-333-T g.chr2:210561608G>A uc002vde.1 + MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Intron NM_002374 NP_002365 ERBB4 2066 broad.mit.edu 37 2 212570083 212570083 + Silent SNP T A A 2011-2344:2012-333-T g.chr2:212570083T>A uc002veg.1 - 10 1256 c.1158A>T c.(1156-1158)CCA>CCT p.P386P ERBB4_uc002veh.1_Silent_p.P386P|ERBB4_uc010zji.1_Silent_p.P386P|ERBB4_uc010zjj.1_Silent_p.P386P|ERBB4_uc010fut.1_Silent_p.P386P NM_005235 NP_005226 PAX3 5077 broad.mit.edu 37 2 223160203 223160203 + Intron SNP C A A 2011-2344:2012-333-T g.chr2:223160203C>A uc010fwo.2 - PAX3_uc002vmt.1_Intron|PAX3_uc002vmy.1_Intron|PAX3_uc002vmv.1_Intron|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron|PAX3_uc002vmz.1_Intron|PAX3_uc002vna.1_Intron|CCDC140_uc002vnb.1_5'Flank NM_181457 NP_852122 PLCB1 23236 broad.mit.edu 37 20 8702989 8702989 + Intron SNP A G G 2011-2344:2012-333-T g.chr20:8702989A>G uc002wnb.2 + PLCB1_uc010zrb.1_Intron|PLCB1_uc002wna.2_Intron|PLCB1_uc002wnc.1_Intron|PLCB1_uc002wnd.1_Intron NM_015192 NP_056007 BAGE2 85319 broad.mit.edu 37 21 11098545 11098545 + Intron SNP C A A 2011-2344:2012-333-T g.chr21:11098545C>A uc002yit.1 - BAGE_uc002yix.2_Intron NM_182482 NP_872288 MPPED1 758 broad.mit.edu 37 22 43892319 43892319 + Intron SNP G A A 2011-2344:2012-333-T g.chr22:43892319G>A uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 POLQ 10721 broad.mit.edu 37 3 121209266 121209266 + Intron SNP A C C 2011-2344:2012-333-T g.chr3:121209266A>C uc003eee.3 - POLQ_uc003eed.2_Missense_Mutation_p.S10A NM_199420 NP_955452 PIK3CB 5291 broad.mit.edu 37 3 138403390 138403390 + Intron SNP C T T rs625468 by1000genomes 2011-2344:2012-333-T g.chr3:138403390C>T uc011bmq.1 - PIK3CB_uc011bmn.1_Intron|PIK3CB_uc011bmo.1_Intron|PIK3CB_uc011bmp.1_Intron NM_006219 NP_006210 GMPS 8833 broad.mit.edu 37 3 155652860 155652860 + Intron SNP C T T rs75672038 byFrequency;by1000genomes 2011-2344:2012-333-T g.chr3:155652860C>T uc003faq.2 + GMPS_uc011bom.1_Intron NM_003875 NP_003866 SI 6476 broad.mit.edu 37 3 164724567 164724567 + Intron SNP A G G rs7618643 by1000genomes 2011-2344:2012-333-T g.chr3:164724567A>G uc003fei.2 - NM_001041 NP_001032 SLITRK3 22865 broad.mit.edu 37 3 164905780 164905780 + Nonsense_Mutation SNP G A A rs141763022 by1000genomes 2011-2344:2012-333-T g.chr3:164905780G>A uc003fej.3 - 2 3283 c.2839C>T c.(2839-2841)CAA>TAA p.Q947* SLITRK3_uc003fek.2_Nonsense_Mutation_p.Q947* NM_014926 NP_055741 DGKG 1608 broad.mit.edu 37 3 185867952 185867952 + Missense_Mutation SNP G C C 2011-2344:2012-333-T g.chr3:185867952G>C uc003fqa.2 - 25 2840 c.2303C>G c.(2302-2304)GCG>GGG p.A768G DGKG_uc003fqb.2_Missense_Mutation_p.A729G|DGKG_uc003fqc.2_Missense_Mutation_p.A743G|DGKG_uc011brx.1_Missense_Mutation_p.A709G NM_001346 NP_001337 DSPP 1834 broad.mit.edu 37 4 88536829 88536829 + Silent SNP T C C 2011-2344:2012-333-T g.chr4:88536829T>C uc003hqu.2 + 5 3135 c.3015T>C c.(3013-3015)GAT>GAC p.D1005D NM_014208 NP_055023 DSPP 1834 broad.mit.edu 37 4 88536982 88536982 + Silent SNP T C C 2011-2344:2012-333-T g.chr4:88536982T>C uc003hqu.2 + 5 3288 c.3168T>C c.(3166-3168)AAT>AAC p.N1056N NM_014208 NP_055023 SLC12A7 10723 broad.mit.edu 37 5 1070935 1070935 + Intron SNP T C C 2011-2344:2012-333-T g.chr5:1070935T>C uc003jbu.2 - NM_006598 NP_006589 DNAH5 1767 broad.mit.edu 37 5 13931205 13931205 + Intron SNP G C C rs1530497 by1000genomes 2011-2344:2012-333-T g.chr5:13931205G>C uc003jfd.2 - DNAH5_uc003jfe.1_Intron NM_001369 NP_001360 PCDHB12 56124 broad.mit.edu 37 5 140589016 140589016 + Missense_Mutation SNP C A A 2011-2344:2012-333-T g.chr5:140589016C>A uc003liz.2 + 1 726 c.537C>A c.(535-537)CAC>CAA p.H179Q PCDHB12_uc011dak.1_Intron NM_018932 NP_061755 AMD1 262 broad.mit.edu 37 6 111213587 111213587 + Missense_Mutation SNP C T T 2011-2344:2012-333-T g.chr6:111213587C>T uc003puk.1 + 6 878 c.556C>T c.(556-558)CCA>TCA p.P186S AMD1_uc011eay.1_Missense_Mutation_p.P117S|AMD1_uc011eaz.1_Missense_Mutation_p.P157S|AMD1_uc011eba.1_Missense_Mutation_p.P66S|AMD1_uc003pul.1_Missense_Mutation_p.P38S NM_001634 NP_001625 C6orf118 168090 broad.mit.edu 37 6 165714834 165714834 + Intron SNP A G G rs93927 by1000genomes 2011-2344:2012-333-T g.chr6:165714834A>G uc003qum.3 - C6orf118_uc011egi.1_Intron NM_144980 NP_659417 SMOC2 64094 broad.mit.edu 37 6 168999951 168999951 + Intron SNP C T T rs78030168 by1000genomes 2011-2344:2012-333-T g.chr6:168999951C>T uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 RAC1 5879 broad.mit.edu 37 7 6438255 6438255 + Intron SNP C G G 2011-2344:2012-333-T g.chr7:6438255C>G uc003spx.2 + RAC1_uc003spw.2_Intron NM_006908 NP_008839 EMID2 136227 broad.mit.edu 37 7 101080651 101080651 + Intron SNP G C C 2011-2344:2012-333-T g.chr7:101080651G>C uc010lhy.1 + EMID2_uc003uyo.1_Intron NM_133457 NP_597714 RELN 5649 broad.mit.edu 37 7 103215959 103215959 + Intron SNP A G G 2011-2344:2012-333-T g.chr7:103215959A>G uc003vca.2 - RELN_uc010liz.2_Intron NM_005045 NP_005036 BRAF 673 broad.mit.edu 37 7 140439480 140439480 + Intron SNP G A A 2011-2344:2012-333-T g.chr7:140439480G>A uc003vwc.3 - NM_004333 NP_004324 BRAF 673 broad.mit.edu 37 7 140439849 140439849 + Intron SNP C T T 2011-2344:2012-333-T g.chr7:140439849C>T uc003vwc.3 - NM_004333 NP_004324 EZH2 2146 broad.mit.edu 37 7 148506145 148506145 + Intron SNP G C C 2011-2344:2012-333-T g.chr7:148506145G>C uc003wfd.1 - EZH2_uc011kug.1_Intron|EZH2_uc003wfb.1_Intron|EZH2_uc003wfc.1_Intron|EZH2_uc011kuh.1_Intron NM_004456 NP_004447 WHSC1L1 54904 broad.mit.edu 37 8 38205624 38205624 + Silent SNP G A A 2011-2344:2012-333-T g.chr8:38205624G>A uc003xli.2 - 2 584 c.66C>T c.(64-66)CTC>CTT p.L22L WHSC1L1_uc011lbm.1_Silent_p.L22L|WHSC1L1_uc010lwe.2_Silent_p.L22L|WHSC1L1_uc003xlj.2_Silent_p.L22L NM_023034 NP_075447 WHSC1L1 54904 broad.mit.edu 37 8 38205681 38205681 + Missense_Mutation SNP G C C 2011-2344:2012-333-T g.chr8:38205681G>C uc003xli.2 - 2 527 c.9C>G c.(7-9)TTC>TTG p.F3L WHSC1L1_uc011lbm.1_Missense_Mutation_p.F3L|WHSC1L1_uc010lwe.2_Missense_Mutation_p.F3L|WHSC1L1_uc003xlj.2_Missense_Mutation_p.F3L NM_023034 NP_075447 CSMD3 114788 broad.mit.edu 37 8 113585643 113585643 + Intron SNP G A A 2011-2344:2012-333-T g.chr8:113585643G>A uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113649084 113649084 + Missense_Mutation SNP C A A 2011-2344:2012-333-T g.chr8:113649084C>A uc003ynu.2 - 22 3836 c.3677G>T c.(3676-3678)GGC>GTC p.G1226V CSMD3_uc003yns.2_Missense_Mutation_p.G498V|CSMD3_uc003ynt.2_Missense_Mutation_p.G1186V|CSMD3_uc011lhx.1_Missense_Mutation_p.G1122V NM_198123 NP_937756 FAM135B 51059 broad.mit.edu 37 8 139163884 139163884 + Missense_Mutation SNP G T T 2011-2344:2012-333-T g.chr8:139163884G>T uc003yuy.2 - 13 3005 c.2834C>A c.(2833-2835)GCC>GAC p.A945D FAM135B_uc003yux.2_Missense_Mutation_p.A846D|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.A507D|FAM135B_uc003yvb.2_Missense_Mutation_p.A507D NM_015912 NP_056996 PBX3 5090 broad.mit.edu 37 9 128728459 128728459 + 3'UTR SNP A G G rs11792585 by1000genomes 2011-2344:2012-333-T g.chr9:128728459A>G uc004bqb.2 + 9 PBX3_uc004bqc.2_3'UTR|PBX3_uc004bqd.2_3'UTR|PBX3_uc011lzw.1_3'UTR|PBX3_uc011lzx.1_3'UTR|PBX3_uc004bqe.2_3'UTR NM_006195 NP_006186 NUP214 8021 broad.mit.edu 37 9 134004912 134004912 + Intron SNP A C C rs3736957 by1000genomes 2011-2344:2012-333-T g.chr9:134004912A>C uc004cag.2 + NUP214_uc004cah.2_Intron|NUP214_uc004caf.1_Intron NM_005085 NP_005076 POMT1 10585 broad.mit.edu 37 9 134391432 134391432 + Intron SNP G A A rs35076804 2011-2344:2012-333-T g.chr9:134391432G>A uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 C1orf173 127254 broad.mit.edu 37 1 75038352 75038352 + Silent SNP C T T 2011-2345:2012-332-T g.chr1:75038352C>T uc001dgg.2 - 14 3261 c.3042G>A c.(3040-3042)GAG>GAA p.E1014E NM_001002912 NP_001002912 NOTCH2 4853 broad.mit.edu 37 1 120468161 120468161 + Silent SNP C G G 2011-2345:2012-332-T g.chr1:120468161C>G uc001eik.2 - 25 4534 c.4278G>C c.(4276-4278)CTG>CTC p.L1426L NM_024408 NP_077719 NOTCH2 4853 broad.mit.edu 37 1 120611554 120611554 + Intron SNP T C C rs75248693 2011-2345:2012-332-T g.chr1:120611554T>C uc001eik.2 - NOTCH2_uc001eil.2_Intron|NOTCH2_uc001eim.3_Intron NM_024408 NP_077719 ASH1L 55870 broad.mit.edu 37 1 155312029 155312029 + Intron SNP C T T rs4971050 by1000genomes 2011-2345:2012-332-T g.chr1:155312029C>T uc009wqq.2 - RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Intron NM_018489 NP_060959 CUBN 8029 broad.mit.edu 37 10 16967381 16967381 + Missense_Mutation SNP G T T 2011-2345:2012-332-T g.chr10:16967381G>T uc001ioo.2 - 43 6557 c.6505C>A c.(6505-6507)CCT>ACT p.P2169T NM_001081 NP_001072 HRAS 3265 broad.mit.edu 37 11 534285 534285 + Missense_Mutation SNP C A A rs104894226 2011-2345:2012-332-T g.chr11:534285C>A uc001lpv.2 - 2 226 c.38G>T c.(37-39)GGT>GTT p.G13V HRAS_uc010qvw.1_Missense_Mutation_p.G13V|HRAS_uc010qvx.1_Missense_Mutation_p.G13V|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 AHNAK 79026 broad.mit.edu 37 11 62293297 62293297 + Silent SNP C G G 2011-2345:2012-332-T g.chr11:62293297C>G uc001ntl.2 - 5 8892 c.8592G>C c.(8590-8592)CTG>CTC p.L2864L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 FANCM 57697 broad.mit.edu 37 14 45605818 45605818 + Intron SNP C T T rs2033385 byFrequency;by1000genomes 2011-2345:2012-332-T g.chr14:45605818C>T uc001wwd.3 + FANCM_uc001wwc.2_Intron|FANCM_uc010anf.2_Intron|FKBP3_uc010tqf.1_5'Flank NM_020937 NP_065988 FANCM 57697 broad.mit.edu 37 14 45664721 45664721 + Intron SNP C G G rs58790242 by1000genomes 2011-2345:2012-332-T g.chr14:45664721C>G uc001wwd.3 + FANCM_uc010anf.2_Intron|FANCM_uc001wwe.3_Intron|FANCM_uc010ang.2_Missense_Mutation_p.S1007C NM_020937 NP_065988 SYNE2 23224 broad.mit.edu 37 14 64674981 64674981 + Intron SNP T C C rs1152595 by1000genomes 2011-2345:2012-332-T g.chr14:64674981T>C uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_5'Flank NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64675895 64675895 + Intron SNP C T T rs1152593 by1000genomes 2011-2345:2012-332-T g.chr14:64675895C>T uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_5'Flank NM_015180 NP_055995 ZNF276 92822 broad.mit.edu 37 16 89805261 89805261 + 3'UTR SNP A G G rs1800359 byFrequency;by1000genomes 2011-2345:2012-332-T g.chr16:89805261A>G uc002fos.3 + 11 ZNF276_uc010ciq.2_3'UTR|ZNF276_uc002foq.3_3'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_3'UTR|ZNF276_uc010cis.2_3'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_3'UTR|FANCA_uc002fou.1_Intron|FANCA_uc010vpn.1_Intron NM_001113525 NP_001106997 FANCA 2175 broad.mit.edu 37 16 89806347 89806347 + Intron SNP A T T rs7195906 byFrequency;by1000genomes 2011-2345:2012-332-T g.chr16:89806347A>T uc002fou.1 - ZNF276_uc010ciq.2_3'UTR|ZNF276_uc002foq.3_3'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_3'UTR|ZNF276_uc010cis.2_3'UTR|ZNF276_uc002fos.3_3'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_3'UTR|FANCA_uc010vpn.1_Intron|FANCA_uc010vpo.1_Missense_Mutation_p.I416N NM_000135 NP_000126 FANCA 2175 broad.mit.edu 37 16 89818708 89818708 + Intron SNP G C C 2011-2345:2012-332-T g.chr16:89818708G>C uc002fou.1 - FANCA_uc010vpn.1_Intron|FANCA_uc010vpo.1_Intron NM_000135 NP_000126 FANCA 2175 broad.mit.edu 37 16 89842029 89842029 + Intron SNP C G G rs3785275 by1000genomes 2011-2345:2012-332-T g.chr16:89842029C>G uc002fou.1 - FANCA_uc010vpn.1_Intron NM_000135 NP_000126 FANCA 2175 broad.mit.edu 37 16 89846195 89846195 + Intron SNP A G G rs1800335 byFrequency;by1000genomes 2011-2345:2012-332-T g.chr16:89846195A>G uc002fou.1 - FANCA_uc010vpn.1_Intron NM_000135 NP_000126 FANCA 2175 broad.mit.edu 37 16 89849583 89849583 + Intron SNP C T T rs2239360 by1000genomes 2011-2345:2012-332-T g.chr16:89849583C>T uc002fou.1 - FANCA_uc010vpn.1_Intron NM_000135 NP_000126 FANCA 2175 broad.mit.edu 37 16 89857964 89857964 + Intron SNP T C C rs1800330 byFrequency;by1000genomes 2011-2345:2012-332-T g.chr16:89857964T>C uc002fou.1 - FANCA_uc010vpn.1_Intron NM_000135 NP_000126 FANCA 2175 broad.mit.edu 37 16 89858024 89858024 + Intron SNP A G G rs6500450 byFrequency;by1000genomes 2011-2345:2012-332-T g.chr16:89858024A>G uc002fou.1 - FANCA_uc010vpn.1_Intron NM_000135 NP_000126 FANCA 2175 broad.mit.edu 37 16 89858525 89858525 + Intron SNP C G G rs1800287 byFrequency;by1000genomes 2011-2345:2012-332-T g.chr16:89858525C>G uc002fou.1 - FANCA_uc010vpn.1_Intron NM_000135 NP_000126 FANCA 2175 broad.mit.edu 37 16 89866160 89866160 + Intron SNP A G G rs7186192 byFrequency;by1000genomes 2011-2345:2012-332-T g.chr16:89866160A>G uc002fou.1 - FANCA_uc010vpn.1_Intron|FANCA_uc002fov.1_Intron|FANCA_uc002fow.1_Intron|FANCA_uc002fox.1_Intron|FANCA_uc010ciu.1_Intron|FANCA_uc002foy.2_Intron NM_000135 NP_000126 RPH3AL 9501 broad.mit.edu 37 17 138370 138370 + Intron SNP G A A rs146534797 by1000genomes 2011-2345:2012-332-T g.chr17:138370G>A uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 RPTOR 57521 broad.mit.edu 37 17 78904339 78904339 + Intron SNP T G G 2011-2345:2012-332-T g.chr17:78904339T>G uc002jyt.1 + RPTOR_uc010wug.1_Intron NM_020761 NP_065812 DSEL 92126 broad.mit.edu 37 18 65180782 65180782 + Missense_Mutation SNP C G G 2011-2345:2012-332-T g.chr18:65180782C>G uc002lke.1 - 2 2318 c.1094G>C c.(1093-1095)GGA>GCA p.G365A NM_032160 NP_115536 APOB 338 broad.mit.edu 37 2 21225300 21225300 + Missense_Mutation SNP C T T 2011-2345:2012-332-T g.chr2:21225300C>T uc002red.2 - 29 13122 c.12994G>A c.(12994-12996)GAG>AAG p.E4332K NM_000384 NP_000375 RMND5A 64795 broad.mit.edu 37 2 87641714 87641714 + Intron SNP C G G 2011-2345:2012-332-T g.chr2:87641714C>G uc002srs.3 + LRP1B 53353 broad.mit.edu 37 2 141708021 141708021 + Intron SNP T A A rs6706503 by1000genomes 2011-2345:2012-332-T g.chr2:141708021T>A uc002tvj.1 - LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 NFE2L2 4780 broad.mit.edu 37 2 178129729 178129729 + 5'UTR SNP C T T 2011-2345:2012-332-T g.chr2:178129729C>T uc002ulh.3 - 1 NFE2L2_uc002ulg.3_5'Flank|NFE2L2_uc010zfa.1_5'Flank|NFE2L2_uc002uli.3_Intron|NFE2L2_uc010fra.2_5'Flank|NFE2L2_uc010frb.2_5'Flank NM_006164 NP_006155 NFE2L2 4780 broad.mit.edu 37 2 178129972 178129972 + 5'Flank SNP C T T 2011-2345:2012-332-T g.chr2:178129972C>T uc002ulh.3 - NFE2L2_uc002ulg.3_5'Flank|NFE2L2_uc010zfa.1_5'Flank|NFE2L2_uc002uli.3_Intron|NFE2L2_uc010fra.2_5'Flank|NFE2L2_uc010frb.2_5'Flank NM_006164 NP_006155 TTN 7273 broad.mit.edu 37 2 179476315 179476315 + Nonsense_Mutation SNP C A A 2011-2345:2012-332-T g.chr2:179476315C>A uc010zfg.1 - 218 43161 c.42937G>T c.(42937-42939)GGA>TGA p.G14313* uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.G8008*|TTN_uc010zfi.1_Nonsense_Mutation_p.G7941*|TTN_uc010zfj.1_Nonsense_Mutation_p.G7816* NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179476462 179476462 + Intron SNP T C C 2011-2345:2012-332-T g.chr2:179476462T>C uc010zfg.1 - uc002ump.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron NM_133378 NP_596869 STAT1 6772 broad.mit.edu 37 2 191844593 191844593 + Splice_Site SNP C G G 2011-2345:2012-332-T g.chr2:191844593C>G uc002usj.2 - 20 2021 c.1633_splice c.e20-1 p.E545_splice STAT1_uc010fse.1_Splice_Site_p.E545_splice|STAT1_uc002usk.2_Splice_Site_p.E545_splice|STAT1_uc002usl.2_Splice_Site_p.E547_splice NM_007315 NP_009330 CASP8 841 broad.mit.edu 37 2 202126615 202126615 + Intron SNP A G G rs1861270 by1000genomes 2011-2345:2012-332-T g.chr2:202126615A>G uc002uxr.1 + CASP8_uc010ftc.1_Intron|CASP8_uc002uxo.1_Intron|CASP8_uc002uxp.1_Intron|CASP8_uc002uxq.1_Intron|CASP8_uc002uxs.1_Intron|CASP8_uc002uxt.1_Intron|CASP8_uc002uxu.1_Intron|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Intron|CASP8_uc002uxw.1_Intron NM_033355 NP_203519 PAX3 5077 broad.mit.edu 37 2 223096768 223096768 + Intron SNP G A A 2011-2345:2012-332-T g.chr2:223096768G>A uc010fwo.2 - PAX3_uc002vmt.1_Intron|PAX3_uc002vmy.1_Intron|PAX3_uc002vmv.1_Intron|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron NM_181457 NP_852122 CLTCL1 8218 broad.mit.edu 37 22 19178773 19178773 + Intron SNP C G G 2011-2345:2012-332-T g.chr22:19178773C>G uc002zpb.2 - CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Intron|CLTCL1_uc011agt.1_Intron|CLTCL1_uc011agu.1_Intron NM_007098 NP_009029 GRAMD4 23151 broad.mit.edu 37 22 47071120 47071120 + Intron SNP C G G 2011-2345:2012-332-T g.chr22:47071120C>G uc003bhx.2 + GRAMD4_uc010had.2_Intron|GRAMD4_uc003bhy.2_Intron NM_015124 NP_055939 MST1R 4486 broad.mit.edu 37 3 49925132 49925132 + Intron SNP C G G 2011-2345:2012-332-T g.chr3:49925132C>G uc003cxy.3 - MST1R_uc011bdc.1_Intron NM_002447 NP_002438 BBX 56987 broad.mit.edu 37 3 107396287 107396287 + Intron SNP T G G rs13326227 by1000genomes 2011-2345:2012-332-T g.chr3:107396287T>G uc010hpr.2 + BBX_uc003dwk.3_Intron|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Intron|BBX_uc003dwm.3_Intron NM_001142568 NP_001136040 TP63 8626 broad.mit.edu 37 3 189587274 189587274 + Intron SNP A G G rs6790167 byFrequency;by1000genomes 2011-2345:2012-332-T g.chr3:189587274A>G uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsa.2_Intron|TP63_uc003fsb.2_Intron|TP63_uc003fsc.2_Intron|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Intron NM_003722 NP_003713 TP63 8626 broad.mit.edu 37 3 189590824 189590824 + Intron SNP G C C rs9840359 byFrequency;by1000genomes 2011-2345:2012-332-T g.chr3:189590824G>C uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsa.2_3'UTR|TP63_uc003fsb.2_Intron|TP63_uc003fsc.2_Intron|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Intron NM_003722 NP_003713 REST 5978 broad.mit.edu 37 4 57777162 57777162 + Missense_Mutation SNP G C C 2011-2345:2012-332-T g.chr4:57777162G>C uc003hch.2 + 2 705 c.358G>C c.(358-360)GAA>CAA p.E120Q REST_uc003hci.2_Missense_Mutation_p.E120Q|REST_uc003hcj.1_Missense_Mutation_p.E120Q|REST_uc010ihf.2_5'UTR NM_005612 NP_005603 SMAD1 4086 broad.mit.edu 37 4 146435841 146435841 + Missense_Mutation SNP G A A 2011-2345:2012-332-T g.chr4:146435841G>A uc003ikc.2 + 2 492 c.76G>A c.(76-78)GAA>AAA p.E26K SMAD1_uc003ikd.2_Missense_Mutation_p.E26K|SMAD1_uc010iov.2_Missense_Mutation_p.E26K|SMAD1_uc011cic.1_Missense_Mutation_p.E26K NM_005900 NP_005891 HLA-G 3135 broad.mit.edu 37 6 29894128 29894128 + Intron SNP C T T rs113752838 2011-2345:2012-332-T g.chr6:29894128C>T uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HCG4P6_uc003noh.1_5'Flank|uc003noi.2_RNA NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29896484 29896484 + Intron SNP G C C rs113598755 2011-2345:2012-332-T g.chr6:29896484G>C uc011dmb.1 + HCG4P6_uc003nog.1_Intron|uc003noi.2_Intron NM_002127 NP_002118 HLA-A 3105 broad.mit.edu 37 6 29911684 29911684 + Intron SNP C T T rs9260164 2011-2345:2012-332-T g.chr6:29911684C>T uc003nol.2 + HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Intron|HLA-A_uc003nok.2_Intron|HLA-A_uc003non.2_Intron|HLA-A_uc003noo.2_Intron|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_Intron|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_Intron|HLA-A_uc011dmd.1_Intron NM_002116 NP_002107 HLA-A 3105 broad.mit.edu 37 6 29912510 29912510 + Intron SNP T G G rs1632885 2011-2345:2012-332-T g.chr6:29912510T>G uc003nol.2 + HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc003nok.2_Intron|HLA-A_uc003non.2_Intron|HLA-A_uc003noo.2_Intron|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_Intron|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_Intron|HLA-A_uc011dmd.1_3'UTR NM_002116 NP_002107 SYNE1 23345 broad.mit.edu 37 6 152577752 152577752 + Intron SNP T C C rs17082389 by1000genomes 2011-2345:2012-332-T g.chr6:152577752T>C uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron NM_182961 NP_892006 ADCYAP1R1 117 broad.mit.edu 37 7 31141863 31141863 + Intron SNP C G G 2011-2345:2012-332-T g.chr7:31141863C>G uc003tca.1 + ADCYAP1R1_uc003tcb.1_Intron|ADCYAP1R1_uc003tcc.1_Intron|ADCYAP1R1_uc003tcd.1_Intron|ADCYAP1R1_uc003tce.1_Intron|ADCYAP1R1_uc003tcf.1_Intron NM_001118 NP_001109 EZH2 2146 broad.mit.edu 37 7 148514474 148514474 + Missense_Mutation SNP G A A 2011-2345:2012-332-T g.chr7:148514474G>A uc003wfd.1 - 11 1401 c.1235C>T c.(1234-1236)TCT>TTT p.S412F EZH2_uc011kug.1_Missense_Mutation_p.S403F|EZH2_uc003wfb.1_Missense_Mutation_p.S417F|EZH2_uc003wfc.1_Missense_Mutation_p.S373F|EZH2_uc011kuh.1_Missense_Mutation_p.S403F|EZH2_uc011kui.1_3'UTR NM_004456 NP_004447 MLL3 58508 broad.mit.edu 37 7 151846285 151846285 + Intron SNP C A A 2011-2345:2012-332-T g.chr7:151846285C>A uc003wla.2 - MLL3_uc003wkz.2_Intron|MLL3_uc003wkx.2_Intron|MLL3_uc003wky.2_Intron NM_170606 NP_733751 PTPRN2 5799 broad.mit.edu 37 7 158066718 158066718 + Intron SNP C A A rs113350652 by1000genomes 2011-2345:2012-332-T g.chr7:158066718C>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 RIMS2 9699 broad.mit.edu 37 8 104922392 104922392 + Missense_Mutation SNP C T T 2011-2345:2012-332-T g.chr8:104922392C>T uc003yls.2 + 3 1230 c.989C>T c.(988-990)ACG>ATG p.T330M RIMS2_uc003ylp.2_Missense_Mutation_p.T552M|RIMS2_uc003ylw.2_Missense_Mutation_p.T360M|RIMS2_uc003ylq.2_Missense_Mutation_p.T360M|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank NM_014677 NP_055492 FANCG 2189 broad.mit.edu 37 9 35077441 35077441 + Intron SNP T C C rs554098 by1000genomes 2011-2345:2012-332-T g.chr9:35077441T>C uc003zwb.1 - FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_Intron|FANCG_uc011lot.1_Intron NM_004629 NP_004620 NOTCH1 4851 broad.mit.edu 37 9 139399070 139399070 + Intron SNP G A A rs11574903 by1000genomes 2011-2345:2012-332-T g.chr9:139399070G>A uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 FANCB 2187 broad.mit.edu 37 X 14891258 14891258 + 5'Flank SNP G T T rs2285490 by1000genomes 2011-2345:2012-332-T g.chrX:14891258G>T uc004cwg.1 - FANCB_uc004cwh.1_5'Flank|MOSPD2_uc004cwi.2_5'Flank NM_001018113 NP_001018123 DDX3X 1654 broad.mit.edu 37 X 41201989 41201989 + Splice_Site SNP G T T 2011-2345:2012-332-T g.chrX:41201989G>T uc004dfe.2 + 6 1299 c.444_splice c.e6-1 p.Q148_splice DDX3X_uc010nhf.1_Splice_Site_p.Q132_splice|DDX3X_uc004dff.2_Splice_Site_p.Q148_splice|DDX3X_uc011mkq.1_Splice_Site_p.Q132_splice|DDX3X_uc011mkr.1_Splice_Site_p.Q148_splice|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_Splice_Site|DDX3X_uc011mkt.1_Splice_Site NM_001356 NP_001347 HEPH 9843 broad.mit.edu 37 X 65474774 65474774 + Intron SNP C T T rs651494 by1000genomes 2011-2345:2012-332-T g.chrX:65474774C>T uc011moz.1 + HEPH_uc004dwn.2_Intron|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Intron|HEPH_uc010nks.2_Intron NM_138737 NP_620074 KIF1B 23095 broad.mit.edu 37 1 10397487 10397487 + Silent SNP G A A 2011-2346:2012-301-T g.chr1:10397487G>A uc001aqx.3 + 31 3520 c.3318G>A c.(3316-3318)GAG>GAA p.E1106E KIF1B_uc001aqw.3_Silent_p.E1060E|KIF1B_uc001aqy.2_Silent_p.E1080E|KIF1B_uc001aqz.2_Silent_p.E1106E|KIF1B_uc001ara.2_Silent_p.E1066E|KIF1B_uc001arb.2_Silent_p.E1092E NM_015074 NP_055889 ARHGAP30 257106 broad.mit.edu 37 1 161039829 161039829 + 5'Flank SNP A G G 2011-2346:2012-301-T g.chr1:161039829A>G uc001fxl.2 - ARHGAP30_uc001fxk.2_5'Flank|ARHGAP30_uc001fxm.2_5'Flank|ARHGAP30_uc009wtx.2_5'Flank|ARHGAP30_uc001fxn.1_5'Flank NM_001025598 NP_001020769 IRF6 3664 broad.mit.edu 37 1 209979518 209979518 + 5'Flank SNP T A A rs12403006 by1000genomes 2011-2346:2012-301-T g.chr1:209979518T>A uc001hhq.1 - IRF6_uc010psm.1_5'Flank|IRF6_uc009xct.1_5'Flank NM_006147 NP_006138 IRF6 3664 broad.mit.edu 37 1 209979529 209979529 + 5'Flank SNP A T T rs34743335 by1000genomes 2011-2346:2012-301-T g.chr1:209979529A>T uc001hhq.1 - IRF6_uc010psm.1_5'Flank|IRF6_uc009xct.1_5'Flank NM_006147 NP_006138 MAML2 84441 broad.mit.edu 37 11 96075143 96075143 + 5'UTR SNP G C C 2011-2346:2012-301-T g.chr11:96075143G>C uc001pfw.1 - 1 NM_032427 NP_115803 PZP 5858 broad.mit.edu 37 12 9305962 9305962 + Intron SNP C T T 2011-2346:2012-301-T g.chr12:9305962C>T uc001qvl.2 - PZP_uc009zgl.2_Intron NM_002864 NP_002855 LMF1 64788 broad.mit.edu 37 16 908722 908722 + Intron SNP C T T 2011-2346:2012-301-T g.chr16:908722C>T uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 RPTOR 57521 broad.mit.edu 37 17 78904339 78904339 + Intron SNP T G G 2011-2346:2012-301-T g.chr17:78904339T>G uc002jyt.1 + RPTOR_uc010wug.1_Intron NM_020761 NP_065812 NFATC1 4772 broad.mit.edu 37 18 77177187 77177187 + Intron SNP T G G rs2667440 2011-2346:2012-301-T g.chr18:77177187T>G uc010xfg.1 + NFATC1_uc002lnc.1_Intron|NFATC1_uc010xff.1_Intron|NFATC1_uc002lnd.2_Intron|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfi.1_Intron|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Intron|NFATC1_uc002lng.2_Intron|NFATC1_uc010xfk.1_Intron NM_006162 NP_006153 RMND5A 64795 broad.mit.edu 37 2 87645932 87645932 + Intron SNP C T T 2011-2346:2012-301-T g.chr2:87645932C>T uc002srs.3 + LRP1B 53353 broad.mit.edu 37 2 141526962 141526962 + Intron SNP T C C 2011-2346:2012-301-T g.chr2:141526962T>C uc002tvj.1 - NM_018557 NP_061027 TTLL8 164714 broad.mit.edu 37 22 50467800 50467800 + Intron SNP C T T rs111953900 by1000genomes 2011-2346:2012-301-T g.chr22:50467800C>T uc011ark.1 - NM_001080447 NP_001073916 CNTN6 27255 broad.mit.edu 37 3 1424602 1424602 + Intron SNP G A A 2011-2346:2012-301-T g.chr3:1424602G>A uc003boz.2 + CNTN6_uc011asj.1_Intron|CNTN6_uc003bpa.2_Intron NM_014461 NP_055276 MUC4 4585 broad.mit.edu 37 3 195502852 195502852 + Intron SNP C T T 2011-2346:2012-301-T g.chr3:195502852C>T uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 FGFR3 2261 broad.mit.edu 37 4 1803020 1803020 + Intron SNP C A A 2011-2346:2012-301-T g.chr4:1803020C>A uc003gdr.3 + FGFR3_uc003gdu.2_Intron|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Intron|FGFR3_uc010icb.1_5'Flank|FGFR3_uc003gdt.1_5'Flank NM_000142 NP_000133 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C G G rs121913483 2011-2346:2012-301-T g.chr4:1803568C>G uc003gdr.3 + 7 1002 c.746C>G c.(745-747)TCC>TGC p.S249C FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C NM_000142 NP_000133 GABRA4 2557 broad.mit.edu 37 4 46995499 46995499 + 5'UTR SNP G A A 2011-2346:2012-301-T g.chr4:46995499G>A uc003gxg.2 - 1 NM_000809 NP_000800 HLA-G 3135 broad.mit.edu 37 6 29896636 29896636 + Intron SNP C T T rs116492953 by1000genomes 2011-2346:2012-301-T g.chr6:29896636C>T uc011dmb.1 + HCG4P6_uc003nog.1_Intron|uc003noi.2_Intron NM_002127 NP_002118 FANCE 2178 broad.mit.edu 37 6 35430844 35430844 + Intron SNP G A A 2011-2346:2012-301-T g.chr6:35430844G>A uc003oko.1 + FANCE_uc010jvw.1_Intron NM_021922 NP_068741 SYNE1 23345 broad.mit.edu 37 6 152762573 152762573 + Intron SNP C T T 2011-2346:2012-301-T g.chr6:152762573C>T uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qow.2_Intron|SYNE1_uc003qox.1_Intron NM_182961 NP_892006 VPS41 27072 broad.mit.edu 37 7 38781699 38781699 + Missense_Mutation SNP G T T 2011-2346:2012-301-T g.chr7:38781699G>T uc003tgy.2 - 25 2171 c.2145C>A c.(2143-2145)AAC>AAA p.N715K VPS41_uc003tgz.2_Missense_Mutation_p.N690K|VPS41_uc010kxn.2_Missense_Mutation_p.N626K|VPS41_uc003tgx.2_RNA NM_014396 NP_055211 PCM1 5108 broad.mit.edu 37 8 17823804 17823804 + Intron SNP C T T 2011-2346:2012-301-T g.chr8:17823804C>T uc003wyi.3 + PCM1_uc011kyh.1_Intron|PCM1_uc003wyj.3_Intron NM_006197 NP_006188 TSPAN9 10867 broad.mit.edu 37 12 3378160 3378160 + Intron SNP G A A 2011-2347:2012-300-T g.chr12:3378160G>A uc001qlp.2 + NM_006675 NP_006666 FLT3 2322 broad.mit.edu 37 13 28623550 28623550 + Missense_Mutation SNP G C C 2011-2347:2012-300-T g.chr13:28623550G>C uc001urw.2 - 8 1089 c.1007C>G c.(1006-1008)CCC>CGC p.P336R FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.P336R NM_004119 NP_004110 DCLK1 9201 broad.mit.edu 37 13 36532287 36532287 + Intron SNP C T T 2011-2347:2012-300-T g.chr13:36532287C>T uc001uvf.2 - NM_004734 NP_004725 TLN2 83660 broad.mit.edu 37 15 62999269 62999269 + Intron SNP G C C 2011-2347:2012-300-T g.chr15:62999269G>C uc002alb.3 + NM_015059 NP_055874 BLM 641 broad.mit.edu 37 15 91341433 91341433 + Missense_Mutation SNP G C C 2011-2347:2012-300-T g.chr15:91341433G>C uc002bpr.2 + 17 3321 c.3224G>C c.(3223-3225)AGA>ACA p.R1075T BLM_uc010uqh.1_Missense_Mutation_p.R1075T|BLM_uc010uqi.1_Missense_Mutation_p.R700T|BLM_uc010bnx.2_Missense_Mutation_p.R1075T|BLM_uc002bpt.2_Missense_Mutation_p.R50T NM_000057 NP_000048 RPH3AL 9501 broad.mit.edu 37 17 83948 83948 + Intron SNP G A A 2011-2347:2012-300-T g.chr17:83948G>A uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 LRRC37B 114659 broad.mit.edu 37 17 30347763 30347763 + 5'Flank SNP G C C 2011-2347:2012-300-T g.chr17:30347763G>C uc002hgu.2 + LRRC37B_uc010wbx.1_5'UTR|LRRC37B_uc010csu.2_5'Flank NM_052888 NP_443120 MED1 5469 broad.mit.edu 37 17 37566045 37566045 + Missense_Mutation SNP G C C 2011-2347:2012-300-T g.chr17:37566045G>C uc002hrv.3 - 17 2641 c.2429C>G c.(2428-2430)TCT>TGT p.S810C MED1_uc010wee.1_Missense_Mutation_p.S638C|MED1_uc002hru.2_Intron NM_004774 NP_004765 RPTOR 57521 broad.mit.edu 37 17 78904347 78904347 + Intron SNP A C C 2011-2347:2012-300-T g.chr17:78904347A>C uc002jyt.1 + RPTOR_uc010wug.1_Intron NM_020761 NP_065812 DCC 1630 broad.mit.edu 37 18 49866831 49866831 + 5'UTR SNP C G G 2011-2347:2012-300-T g.chr18:49866831C>G uc002lfe.1 + 1 NM_005215 NP_005206 PHLPP1 23239 broad.mit.edu 37 18 60384460 60384460 + Missense_Mutation SNP C G G 2011-2347:2012-300-T g.chr18:60384460C>G uc002lis.2 + 2 186 c.8C>G c.(7-9)TCG>TGG p.S3W NM_194449 NP_919431 NOTCH3 4854 broad.mit.edu 37 19 15296283 15296283 + Intron SNP G T T 2011-2347:2012-300-T g.chr19:15296283G>T uc002nan.2 - NOTCH3_uc002nao.1_Intron NM_000435 NP_000426 RMND5A 64795 broad.mit.edu 37 2 87656445 87656445 + Intron SNP G A A 2011-2347:2012-300-T g.chr2:87656445G>A uc002srs.3 + LRP1B 53353 broad.mit.edu 37 2 141259340 141259340 + Silent SNP C T T 2011-2347:2012-300-T g.chr2:141259340C>T uc002tvj.1 - 55 9738 c.8766G>A c.(8764-8766)GAG>GAA p.E2922E NM_018557 NP_061027 TTN 7273 broad.mit.edu 37 2 179600532 179600532 + Missense_Mutation SNP C G G 2011-2347:2012-300-T g.chr2:179600532C>G uc010zfg.1 - 47 11133 c.10909G>C c.(10909-10911)GAG>CAG p.E3637Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E298Q NM_133378 NP_596869 PARD3B 117583 broad.mit.edu 37 2 205435571 205435571 + Intron SNP G A A 2011-2347:2012-300-T g.chr2:205435571G>A uc002var.1 + PARD3B_uc010fub.1_Intron|PARD3B_uc002vao.1_Intron|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Intron NM_152526 NP_689739 MST1R 4486 broad.mit.edu 37 3 49936648 49936648 + Silent SNP G A A 2011-2347:2012-300-T g.chr3:49936648G>A uc003cxy.3 - 2 1543 c.1279C>T c.(1279-1281)CTG>TTG p.L427L MST1R_uc011bdd.1_Silent_p.L427L|MST1R_uc011bde.1_Silent_p.L427L|MST1R_uc011bdf.1_Intron|MST1R_uc011bdg.1_Silent_p.L427L|MST1R_uc011bdc.1_5'Flank NM_002447 NP_002438 TP63 8626 broad.mit.edu 37 3 189590662 189590662 + Silent SNP G A A 2011-2347:2012-300-T g.chr3:189590662G>A uc003fry.2 + 10 1316 c.1227G>A c.(1225-1227)GAG>GAA p.E409E TP63_uc003frx.2_Silent_p.E409E|TP63_uc003frz.2_Silent_p.E409E|TP63_uc010hzc.1_Silent_p.E409E|TP63_uc003fsa.2_Silent_p.E315E|TP63_uc003fsb.2_Silent_p.E315E|TP63_uc003fsc.2_Silent_p.E315E|TP63_uc003fsd.2_Silent_p.E315E|TP63_uc010hzd.1_Silent_p.E230E NM_003722 NP_003713 MUC4 4585 broad.mit.edu 37 3 195498249 195498249 + Intron SNP G A A rs13087854 2011-2347:2012-300-T g.chr3:195498249G>A uc011bto.1 - MUC4_uc003fuz.2_Intron|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 FAT1 2195 broad.mit.edu 37 4 187627921 187627921 + Missense_Mutation SNP C T T 2011-2347:2012-300-T g.chr4:187627921C>T uc003izf.2 - 2 3249 c.3061G>A c.(3061-3063)GAG>AAG p.E1021K FAT1_uc010iso.1_Missense_Mutation_p.E1021K NM_005245 NP_005236 BTNL9 153579 broad.mit.edu 37 5 180473002 180473002 + Intron SNP C T T 2011-2347:2012-300-T g.chr5:180473002C>T uc003mmt.2 + BTNL9_uc011dhi.1_Intron NM_152547 NP_689760 DST 667 broad.mit.edu 37 6 56480330 56480330 + Intron SNP G C C 2011-2347:2012-300-T g.chr6:56480330G>C uc003pdf.2 - DST_uc003pcz.3_Intron|DST_uc011dxj.1_Intron|DST_uc011dxk.1_Intron|DST_uc003pcy.3_Intron|DST_uc003pdb.2_Intron|DST_uc003pdc.3_Silent_p.L2645L NM_001144769 NP_001138241 EZH2 2146 broad.mit.edu 37 7 148514466 148514466 + Missense_Mutation SNP G C C 2011-2347:2012-300-T g.chr7:148514466G>C uc003wfd.1 - 11 1409 c.1243C>G c.(1243-1245)CAA>GAA p.Q415E EZH2_uc011kug.1_Missense_Mutation_p.Q406E|EZH2_uc003wfb.1_Missense_Mutation_p.Q420E|EZH2_uc003wfc.1_Missense_Mutation_p.Q376E|EZH2_uc011kuh.1_Missense_Mutation_p.Q406E|EZH2_uc011kui.1_3'UTR NM_004456 NP_004447 PTPRN2 5799 broad.mit.edu 37 7 157940998 157940999 + Intron DNP GT AC AC 2011-2347:2012-300-T g.chr7:157940998_157940999GT>AC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTK2B 2185 broad.mit.edu 37 8 27300363 27300363 + Intron SNP C G G 2011-2347:2012-300-T g.chr8:27300363C>G uc003xfn.1 + PTK2B_uc003xfo.1_Intron|PTK2B_uc003xfp.1_Intron|PTK2B_uc003xfq.1_Intron|PTK2B_uc003xfr.1_Intron NM_173174 NP_775266 CSMD3 114788 broad.mit.edu 37 8 113275982 113275982 + Missense_Mutation SNP C G G 2011-2347:2012-300-T g.chr8:113275982C>G uc003ynu.2 - 61 9907 c.9748G>C c.(9748-9750)GAC>CAC p.D3250H CSMD3_uc003yns.2_Missense_Mutation_p.D2452H|CSMD3_uc003ynt.2_Missense_Mutation_p.D3210H|CSMD3_uc011lhx.1_Missense_Mutation_p.D3081H NM_198123 NP_937756 FANCG 2189 broad.mit.edu 37 9 35079934 35079934 + 5'UTR SNP G A A 2011-2347:2012-300-T g.chr9:35079934G>A uc003zwb.1 - 1 FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_5'Flank NM_004629 NP_004620 COL5A1 1289 broad.mit.edu 37 9 137546456 137546456 + Intron SNP A G G rs138553521 by1000genomes 2011-2347:2012-300-T g.chr9:137546456A>G uc004cfe.2 + NM_000093 NP_000084 DDX3X 1654 broad.mit.edu 37 X 41203020 41203020 + Missense_Mutation SNP C T T 2011-2347:2012-300-T g.chrX:41203020C>T uc004dfe.2 + 8 1565 c.710C>T c.(709-711)CCC>CTC p.P237L DDX3X_uc010nhf.1_Missense_Mutation_p.P221L|DDX3X_uc004dff.2_Missense_Mutation_p.P237L|DDX3X_uc011mkq.1_Missense_Mutation_p.P221L|DDX3X_uc011mkr.1_Missense_Mutation_p.P237L|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_Intron NM_001356 NP_001347 MTOR 2475 broad.mit.edu 37 1 11190702 11190702 + Missense_Mutation SNP T G G 2011-2348:2012-331-T g.chr1:11190702T>G uc001asd.2 - 39 5618 c.5497A>C c.(5497-5499)ACC>CCC p.T1833P MTOR_uc001asc.2_Missense_Mutation_p.T38P NM_004958 NP_004949 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T C C rs11554290 2011-2348:2012-331-T g.chr1:115256529T>C uc009wgu.2 - 3 436 c.182A>G c.(181-183)CAA>CGA p.Q61R NM_002524 NP_002515 YY1AP1 55249 broad.mit.edu 37 1 155657840 155657840 + Intron SNP C A A 2011-2348:2012-331-T g.chr1:155657840C>A uc001fln.2 - YY1AP1_uc010pgi.1_Intron|YY1AP1_uc001flh.2_Intron|YY1AP1_uc009wqt.2_Intron|YY1AP1_uc001flk.2_Intron|YY1AP1_uc001fll.2_Intron|YY1AP1_uc009wqv.2_Intron|YY1AP1_uc001flm.2_Intron|YY1AP1_uc001fli.2_Intron|YY1AP1_uc009wqu.2_Intron|YY1AP1_uc001flj.2_Intron|YY1AP1_uc009wqw.2_Intron|YY1AP1_uc001flo.2_Intron|YY1AP1_uc001flp.2_Intron|YY1AP1_uc010pgj.1_Intron|YY1AP1_uc009wqx.2_Intron|YY1AP1_uc010pgk.1_Intron|DAP3_uc001flq.2_5'Flank|DAP3_uc001flr.2_5'Flank|DAP3_uc001fls.2_5'Flank|DAP3_uc010pgl.1_5'Flank|DAP3_uc001flt.2_5'Flank|DAP3_uc001flu.2_5'Flank|DAP3_uc010pgm.1_5'Flank NM_139118 NP_620829 USH2A 7399 broad.mit.edu 37 1 216420519 216420519 + Silent SNP A G G 2011-2348:2012-331-T g.chr1:216420519A>G uc001hku.1 - 13 2604 c.2217T>C c.(2215-2217)TTT>TTC p.F739F USH2A_uc001hkv.2_Silent_p.F739F NM_206933 NP_996816 CUBN 8029 broad.mit.edu 37 10 17171851 17171851 + 5'Flank SNP C A A 2011-2348:2012-331-T g.chr10:17171851C>A uc001ioo.2 - NM_001081 NP_001072 NAV3 89795 broad.mit.edu 37 12 78579498 78579498 + Intron SNP C G G 2011-2348:2012-331-T g.chr12:78579498C>G uc001syp.2 + NAV3_uc001syo.2_Intron|NAV3_uc010sub.1_Intron|NAV3_uc009zsf.2_Intron NM_014903 NP_055718 GPR133 283383 broad.mit.edu 37 12 131555806 131555806 + Intron SNP A G G 2011-2348:2012-331-T g.chr12:131555806A>G uc001uit.3 + GPR133_uc010tbm.1_Intron|GPR133_uc009zyo.2_Intron NM_198827 NP_942122 BRCA2 675 broad.mit.edu 37 13 32918790 32918790 + Missense_Mutation SNP G A A 2011-2348:2012-331-T g.chr13:32918790G>A uc001uub.1 + 12 7164 c.6937G>A c.(6937-6939)GGC>AGC p.G2313S NM_000059 NP_000050 GPC5 2262 broad.mit.edu 37 13 92101179 92101179 + Intron SNP A C C 2011-2348:2012-331-T g.chr13:92101179A>C uc010tif.1 + NM_004466 NP_004457 MCF2L 23263 broad.mit.edu 37 13 113666142 113666142 + Intron SNP T C C rs9549339 2011-2348:2012-331-T g.chr13:113666142T>C uc001vsu.2 + MCF2L_uc001vsq.2_Intron|MCF2L_uc010tjr.1_Intron|MCF2L_uc001vsr.2_Intron|MCF2L_uc001vss.3_Intron|MCF2L_uc010tjs.1_Intron NM_001112732 NP_001106203 SYNE2 23224 broad.mit.edu 37 14 64606804 64606804 + Intron SNP A C C 2011-2348:2012-331-T g.chr14:64606804A>C uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_5'Flank NM_015180 NP_055995 NRXN3 9369 broad.mit.edu 37 14 78869682 78869682 + 5'Flank SNP C A A 2011-2348:2012-331-T g.chr14:78869682C>A uc001xun.2 + NRXN3_uc001xum.1_Intron NM_004796 NP_004787 DICER1 23405 broad.mit.edu 37 14 95560306 95560306 + Silent SNP G A A 2011-2348:2012-331-T g.chr14:95560306G>A uc001ydw.2 - 25 5465 c.5283C>T c.(5281-5283)GTC>GTT p.V1761V DICER1_uc010avh.1_Silent_p.V659V|DICER1_uc001ydv.2_Silent_p.V1751V|DICER1_uc001ydx.2_Silent_p.V1761V NM_030621 NP_085124 CDH11 1009 broad.mit.edu 37 16 65032825 65032825 + Intron SNP G T T 2011-2348:2012-331-T g.chr16:65032825G>T uc002eoi.2 - CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Intron|CDH11_uc010vin.1_Intron|CDH11_uc010vio.1_Intron NM_001797 NP_001788 ABR 29 broad.mit.edu 37 17 1046461 1046461 + Intron SNP G A A 2011-2348:2012-331-T g.chr17:1046461G>A uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 ABR 29 broad.mit.edu 37 17 1046469 1046469 + Intron SNP G A A rs112713679 2011-2348:2012-331-T g.chr17:1046469G>A uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 RSAD1 55316 broad.mit.edu 37 17 48553663 48553663 + 5'Flank SNP C G G 2011-2348:2012-331-T g.chr17:48553663C>G uc002iqw.1 + RSAD1_uc010wmp.1_5'Flank|RSAD1_uc010wmq.1_5'Flank NM_018346 NP_060816 C18orf1 753 broad.mit.edu 37 18 13262764 13262764 + Intron SNP C T T 2011-2348:2012-331-T g.chr18:13262764C>T uc002ksa.2 + C18orf1_uc002ksb.2_Intron NM_181481 NP_852146 ZNF790 388536 broad.mit.edu 37 19 37310006 37310006 + Nonsense_Mutation SNP G A A 2011-2348:2012-331-T g.chr19:37310006G>A uc002oew.2 - 5 1359 c.1240C>T c.(1240-1242)CGA>TGA p.R414* uc002oev.1_Intron NM_206894 NP_996777 ZNF880 400713 broad.mit.edu 37 19 52888348 52888348 + Silent SNP A T T 2011-2348:2012-331-T g.chr19:52888348A>T uc002pzc.2 + 4 1564 c.1515A>T c.(1513-1515)TCA>TCT p.S505S NM_001145434 NP_001138906 NLRP12 91662 broad.mit.edu 37 19 54318105 54318105 + Intron SNP G T T 2011-2348:2012-331-T g.chr19:54318105G>T uc002qch.3 - NLRP12_uc002qci.3_Intron|NLRP12_uc002qcj.3_Intron|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron NM_144687 NP_653288 DNMT3A 1788 broad.mit.edu 37 2 25498449 25498449 + Intron SNP G T T 2011-2348:2012-331-T g.chr2:25498449G>T uc002rgc.2 - DNMT3A_uc002rgd.2_Intron|DNMT3A_uc010eyi.2_Intron NM_022552 NP_072046 LRP1B 53353 broad.mit.edu 37 2 141291676 141291676 + Missense_Mutation SNP C A A 2011-2348:2012-331-T g.chr2:141291676C>A uc002tvj.1 - 47 8648 c.7676G>T c.(7675-7677)TGC>TTC p.C2559F NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141986779 141986779 + Missense_Mutation SNP T G G 2011-2348:2012-331-T g.chr2:141986779T>G uc002tvj.1 - 6 1795 c.823A>C c.(823-825)ACA>CCA p.T275P LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 STAT1 6772 broad.mit.edu 37 2 191839974 191839974 + Intron SNP C T T 2011-2348:2012-331-T g.chr2:191839974C>T uc002usj.2 - STAT1_uc010fse.1_Intron NM_007315 NP_009330 ESPNL 339768 broad.mit.edu 37 2 239028164 239028164 + Intron SNP G A A 2011-2348:2012-331-T g.chr2:239028164G>A uc002vxq.3 + ESPNL_uc010fyw.2_Intron NM_194312 NP_919288 KRTAP6-3 337968 broad.mit.edu 37 21 31964804 31964804 + Missense_Mutation SNP A G G 2011-2348:2012-331-T g.chr21:31964804A>G uc002yom.2 + 1 46 c.40A>G c.(40-42)AGA>GGA p.R14G NM_181605 NP_853636 CHEK2 11200 broad.mit.edu 37 22 29137578 29137578 + Intron SNP A T T 2011-2348:2012-331-T g.chr22:29137578A>T uc003adu.1 - CHEK2_uc003adt.1_Intron|CHEK2_uc003adv.1_Intron|CHEK2_uc003adw.1_Intron|CHEK2_uc003adx.1_Intron|CHEK2_uc003ady.1_Intron|CHEK2_uc003adz.1_Intron|HSCB_uc003aea.2_5'Flank NM_007194 NP_009125 TTLL8 164714 broad.mit.edu 37 22 50467759 50467759 + Intron SNP C A A 2011-2348:2012-331-T g.chr22:50467759C>A uc011ark.1 - NM_001080447 NP_001073916 CDH10 1008 broad.mit.edu 37 5 24644969 24644969 + 5'Flank SNP A G G 2011-2348:2012-331-T g.chr5:24644969A>G uc003jgr.1 - CDH10_uc011cnu.1_5'Flank NM_006727 NP_006718 RXFP3 51289 broad.mit.edu 37 5 33937278 33937278 + Missense_Mutation SNP G T T 2011-2348:2012-331-T g.chr5:33937278G>T uc003jic.1 + 1 790 c.433G>T c.(433-435)GAC>TAC p.D145Y NM_016568 NP_057652 PKHD1 5314 broad.mit.edu 37 6 51613178 51613178 + Missense_Mutation SNP G A A 2011-2348:2012-331-T g.chr6:51613178G>A uc003pah.1 - 58 9512 c.9236C>T c.(9235-9237)GCG>GTG p.A3079V PKHD1_uc010jzn.1_Missense_Mutation_p.A1062V|PKHD1_uc003pai.2_Missense_Mutation_p.A3079V NM_138694 NP_619639 EPHA7 2045 broad.mit.edu 37 6 93965642 93965642 + Silent SNP G T T 2011-2348:2012-331-T g.chr6:93965642G>T uc003poe.2 - 13 2527 c.2286C>A c.(2284-2286)CGC>CGA p.R762R EPHA7_uc003pof.2_Silent_p.R757R|EPHA7_uc011eac.1_Silent_p.R758R NM_004440 NP_004431 SCML4 256380 broad.mit.edu 37 6 108104071 108104071 + Intron SNP C G G 2011-2348:2012-331-T g.chr6:108104071C>G uc010kdf.2 - SCML4_uc003prz.3_Intron|SCML4_uc011eam.1_Intron NM_198081 NP_932347 SMOC2 64094 broad.mit.edu 37 6 169014436 169014436 + Intron SNP C T T rs149703584 by1000genomes 2011-2348:2012-331-T g.chr6:169014436C>T uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 SRPK2 6733 broad.mit.edu 37 7 104807736 104807736 + Intron SNP T C C 2011-2348:2012-331-T g.chr7:104807736T>C uc003vct.2 - SRPK2_uc003vcu.2_Intron|SRPK2_uc003vcv.2_Intron|SRPK2_uc003vcw.1_Intron NM_182691 NP_872633 UBR5 51366 broad.mit.edu 37 8 103309793 103309793 + Missense_Mutation SNP C T T 2011-2348:2012-331-T g.chr8:103309793C>T uc003ykr.1 - 27 3499 c.3466G>A c.(3466-3468)GGA>AGA p.G1156R UBR5_uc003yks.1_Missense_Mutation_p.G1156R NM_015902 NP_056986 CSMD3 114788 broad.mit.edu 37 8 113304833 113304833 + Missense_Mutation SNP C T T 2011-2348:2012-331-T g.chr8:113304833C>T uc003ynu.2 - 55 8880 c.8721G>A c.(8719-8721)ATG>ATA p.M2907I CSMD3_uc003yns.2_Missense_Mutation_p.M2109I|CSMD3_uc003ynt.2_Missense_Mutation_p.M2867I|CSMD3_uc011lhx.1_Missense_Mutation_p.M2738I NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113564899 113564899 + Missense_Mutation SNP G A A 2011-2348:2012-331-T g.chr8:113564899G>A uc003ynu.2 - 26 4444 c.4285C>T c.(4285-4287)CCT>TCT p.P1429S CSMD3_uc003yns.2_Missense_Mutation_p.P701S|CSMD3_uc003ynt.2_Missense_Mutation_p.P1389S|CSMD3_uc011lhx.1_Missense_Mutation_p.P1325S NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113812529 113812529 + Intron SNP A T T 2011-2348:2012-331-T g.chr8:113812529A>T uc003ynu.2 - CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 FAM135B 51059 broad.mit.edu 37 8 139269029 139269029 + Intron SNP T C C 2011-2348:2012-331-T g.chr8:139269029T>C uc003yuy.2 - FAM135B_uc003yux.2_Intron|FAM135B_uc003yuz.2_Intron NM_015912 NP_056996 TRAPPC9 83696 broad.mit.edu 37 8 140816597 140816597 + Intron SNP G C C 2011-2348:2012-331-T g.chr8:140816597G>C uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron NM_001160372 NP_001153844 CDKN2A 1029 broad.mit.edu 37 9 21971003 21971004 + Nonsense_Mutation DNP CA AG AG 2011-2348:2012-331-T g.chr9:21971003_21971004CA>AG uc003zpk.2 - 2 566_567 c.354_355TG>CT c.(352-357)GCTGAG>GCCTAG p.E119* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Nonstop_Mutation_p.*174L NM_000077 NP_000068 CRLF2 64109 broad.mit.edu 37 X 1316492 1316492 + Intron SNP C T T 2011-2348:2012-331-T g.chrX:1316492C>T uc004cpm.1 - SPTA1 6708 broad.mit.edu 37 1 158609712 158609712 + Missense_Mutation SNP C T T 2011-2349:2012-299-T g.chr1:158609712C>T uc001fst.1 - 34 5022 c.4823G>A c.(4822-4824)CGT>CAT p.R1608H NM_003126 NP_003117 GPR123 84435 broad.mit.edu 37 10 134891438 134891438 + Intron SNP G A A 2011-2349:2012-299-T g.chr10:134891438G>A uc001llw.2 + TMEM132D 121256 broad.mit.edu 37 12 130184552 130184552 + Silent SNP G A A 2011-2349:2012-299-T g.chr12:130184552G>A uc009zyl.1 - 2 1099 c.771C>T c.(769-771)ATC>ATT p.I257I NM_133448 NP_597705 GOLGA3 2802 broad.mit.edu 37 12 133369751 133369751 + Intron SNP C T T 2011-2349:2012-299-T g.chr12:133369751C>T uc001ukz.1 - GOLGA3_uc001ula.1_Intron|GOLGA3_uc001ulb.2_Intron NM_005895 NP_005886 BRCA2 675 broad.mit.edu 37 13 32953953 32953953 + Missense_Mutation SNP G T T 2011-2349:2012-299-T g.chr13:32953953G>T uc001uub.1 + 23 9247 c.9020G>T c.(9019-9021)AGA>ATA p.R3007I NM_000059 NP_000050 SYNE2 23224 broad.mit.edu 37 14 64682980 64682980 + Missense_Mutation SNP G C C rs140940287 2011-2349:2012-299-T g.chr14:64682980G>C uc001xgm.2 + 107 19578 c.19348G>C c.(19348-19350)GAT>CAT p.D6450H SYNE2_uc001xgl.2_Missense_Mutation_p.D6473H|SYNE2_uc010apy.2_Missense_Mutation_p.D2835H|SYNE2_uc001xgn.2_Missense_Mutation_p.D1412H|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.D420H|SYNE2_uc001xgq.2_Missense_Mutation_p.D815H|SYNE2_uc001xgr.2_Missense_Mutation_p.D233H|SYNE2_uc010tsi.1_Missense_Mutation_p.D107H|SYNE2_uc001xgs.2_Missense_Mutation_p.D107H|SYNE2_uc001xgt.2_5'UTR NM_015180 NP_055995 TLN2 83660 broad.mit.edu 37 15 63030405 63030405 + Intron SNP G A A 2011-2349:2012-299-T g.chr15:63030405G>A uc002alb.3 + TLN2_uc002alc.3_5'Flank NM_015059 NP_055874 LMF1 64788 broad.mit.edu 37 16 909526 909526 + Intron SNP T G G 2011-2349:2012-299-T g.chr16:909526T>G uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 NXN 64359 broad.mit.edu 37 17 797141 797141 + Intron SNP T A A rs79660826 2011-2349:2012-299-T g.chr17:797141T>A uc002fsa.2 - NXN_uc002fsb.1_Intron NM_022463 NP_071908 BRCA1 672 broad.mit.edu 37 17 41219560 41219560 + Intron SNP C T T rs8176235 by1000genomes 2011-2349:2012-299-T g.chr17:41219560C>T uc002icq.2 - BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Intron|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Intron|BRCA1_uc002ict.2_Intron|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron NM_007294 NP_009225 CCDC57 284001 broad.mit.edu 37 17 80108642 80108642 + Intron SNP C T T 2011-2349:2012-299-T g.chr17:80108642C>T uc002kdx.1 - CCDC57_uc002kdy.2_Intron NM_198082 NP_932348 ATP9B 374868 broad.mit.edu 37 18 76905668 76905668 + Intron SNP G C C 2011-2349:2012-299-T g.chr18:76905668G>C uc002lmx.2 + ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Intron|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_Intron NM_198531 NP_940933 TTN 7273 broad.mit.edu 37 2 179484441 179484441 + Silent SNP G T T 2011-2349:2012-299-T g.chr2:179484441G>T uc010zfg.1 - 199 39123 c.38899C>A c.(38899-38901)CGA>AGA p.R12967R TTN_uc010zfh.1_Silent_p.R6662R|TTN_uc010zfi.1_Silent_p.R6595R|TTN_uc010zfj.1_Silent_p.R6470R NM_133378 NP_596869 CASP8 841 broad.mit.edu 37 2 202107233 202107233 + Intron SNP G C C rs10193121 by1000genomes 2011-2349:2012-299-T g.chr2:202107233G>C uc002uxr.1 + CASP8_uc010ftc.1_Intron|CASP8_uc002uxo.1_Intron|CASP8_uc002uxp.1_Intron|CASP8_uc002uxq.1_Intron|CASP8_uc002uxn.2_RNA NM_033355 NP_203519 BMP7 655 broad.mit.edu 37 20 55793706 55793706 + Intron SNP T G G 2011-2349:2012-299-T g.chr20:55793706T>G uc010gip.1 - BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Intron NM_001719 NP_001710 CHCHD6 84303 broad.mit.edu 37 3 126581912 126581912 + Intron SNP T C C 2011-2349:2012-299-T g.chr3:126581912T>C uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 CEP72 55722 broad.mit.edu 37 5 649188 649188 + Intron SNP G C C rs143444920 by1000genomes 2011-2349:2012-299-T g.chr5:649188G>C uc003jbf.2 + NM_018140 NP_060610 DNAH5 1767 broad.mit.edu 37 5 13792156 13792156 + Missense_Mutation SNP G A A 2011-2349:2012-299-T g.chr5:13792156G>A uc003jfd.2 - 50 8437 c.8395C>T c.(8395-8397)CGG>TGG p.R2799W NM_001369 NP_001360 TRIO 7204 broad.mit.edu 37 5 14476913 14476913 + Intron SNP G A A 2011-2349:2012-299-T g.chr5:14476913G>A uc003jff.2 + TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Intron NM_007118 NP_009049 CDH10 1008 broad.mit.edu 37 5 24488218 24488218 + Missense_Mutation SNP C T T 2011-2349:2012-299-T g.chr5:24488218C>T uc003jgr.1 - 12 2253 c.1921G>A c.(1921-1923)GAG>AAG p.E641K CDH10_uc011cnu.1_RNA NM_006727 NP_006718 FAT2 2196 broad.mit.edu 37 5 150889805 150889805 + Intron SNP A T T rs6870300 by1000genomes 2011-2349:2012-299-T g.chr5:150889805A>T uc003lue.3 - GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Intron NM_001447 NP_001438 HLA-E 3133 broad.mit.edu 37 6 30460232 30460232 + Intron SNP C T T rs17875371 2011-2349:2012-299-T g.chr6:30460232C>T uc003nqg.2 + HLA-E_uc011dmg.1_Intron|HLA-E_uc011dmh.1_Intron NM_005516 NP_005507 PPP1R9A 55607 broad.mit.edu 37 7 94740676 94740676 + Nonsense_Mutation SNP G T T 2011-2349:2012-299-T g.chr7:94740676G>T uc003unp.2 + 3 1783 c.1501G>T c.(1501-1503)GAA>TAA p.E501* PPP1R9A_uc010lfj.2_Nonsense_Mutation_p.E501*|PPP1R9A_uc011kif.1_Nonsense_Mutation_p.E501*|PPP1R9A_uc003unq.2_Nonsense_Mutation_p.E501*|PPP1R9A_uc011kig.1_Nonsense_Mutation_p.E501* NM_017650 NP_060120 MLL3 58508 broad.mit.edu 37 7 151971023 151971023 + Intron SNP G A A 2011-2349:2012-299-T g.chr7:151971023G>A uc003wla.2 - NM_170606 NP_733751 PTPRN2 5799 broad.mit.edu 37 7 157851288 157851288 + Intron SNP G A A rs77887111 2011-2349:2012-299-T g.chr7:157851288G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 UBR5 51366 broad.mit.edu 37 8 103292724 103292724 + Intron SNP T G G rs1037698 by1000genomes 2011-2349:2012-299-T g.chr8:103292724T>G uc003ykr.1 - UBR5_uc003yks.1_Intron NM_015902 NP_056986 FANCG 2189 broad.mit.edu 37 9 35077203 35077203 + Intron SNP G A A rs17885726 by1000genomes 2011-2349:2012-299-T g.chr9:35077203G>A uc003zwb.1 - FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_Intron|FANCG_uc011lot.1_Intron NM_004629 NP_004620 CSF2RA 1438 broad.mit.edu 37 X 1386761 1386761 + 5'Flank SNP C T T 2011-2349:2012-299-T g.chrX:1386761C>T uc010nct.2 + CSF2RA_uc011mhb.1_5'Flank|CSF2RA_uc004cpq.2_5'Flank|CSF2RA_uc004cpn.2_5'Flank|CSF2RA_uc004cpo.2_5'Flank|CSF2RA_uc010ncu.2_5'Flank|CSF2RA_uc011mhc.1_5'Flank|CSF2RA_uc004cpp.2_5'Flank NM_001161529 NP_001155001 NBPF1 55672 broad.mit.edu 37 1 16907164 16907164 + Intron SNP C T T 2011-2350:2012-298-T g.chr1:16907164C>T uc009vos.1 - NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Intron NM_017940 NP_060410 FGFR2 2263 broad.mit.edu 37 10 123258036 123258036 + Missense_Mutation SNP T C C 2011-2350:2012-298-T g.chr10:123258036T>C uc010qtk.1 - 13 2292 c.1645A>G c.(1645-1647)AAT>GAT p.N549D FGFR2_uc010qtg.1_Missense_Mutation_p.N437D|FGFR2_uc010qth.1_Missense_Mutation_p.N434D|FGFR2_uc010qti.1_Missense_Mutation_p.N460D|FGFR2_uc010qtj.1_Missense_Mutation_p.N550D|FGFR2_uc010qtl.1_Missense_Mutation_p.N433D|FGFR2_uc010qtm.1_Missense_Mutation_p.N432D|FGFR2_uc001lfl.3_Missense_Mutation_p.N550D|FGFR2_uc001lfm.2_Missense_Mutation_p.N461D|FGFR2_uc001lfg.3_Missense_Mutation_p.N157D NM_000141 NP_000132 CACNA1C 775 broad.mit.edu 37 12 2365197 2365197 + Intron SNP G T T rs4397911 by1000genomes 2011-2350:2012-298-T g.chr12:2365197G>T uc009zdu.1 + CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc001qkj.1_Intron|CACNA1C_uc001qkk.1_Intron|CACNA1C_uc001qkm.1_Intron NM_199460 NP_955630 MLL2 8085 broad.mit.edu 37 12 49441821 49441821 + Missense_Mutation SNP C T T 2011-2350:2012-298-T g.chr12:49441821C>T uc001rta.3 - 14 4163 c.4163G>A c.(4162-4164)CGG>CAG p.R1388Q NM_003482 NP_003473 ANO4 121601 broad.mit.edu 37 12 101520891 101520891 + Intron SNP A T T 2011-2350:2012-298-T g.chr12:101520891A>T uc010svm.1 + ANO4_uc001thw.2_Intron|ANO4_uc001thx.2_Intron|ANO4_uc001thy.2_Intron NM_178826 NP_849148 GRK1 6011 broad.mit.edu 37 13 114430984 114430984 + Intron SNP G A A 2011-2350:2012-298-T g.chr13:114430984G>A uc010tkf.1 + NM_002929 NP_002920 SYNE2 23224 broad.mit.edu 37 14 64532107 64532107 + Intron SNP A G G rs1255972 by1000genomes 2011-2350:2012-298-T g.chr14:64532107A>G uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apw.1_Intron NM_015180 NP_055995 MYH8 4626 broad.mit.edu 37 17 10298686 10298686 + Missense_Mutation SNP C G G 2011-2350:2012-298-T g.chr17:10298686C>G uc002gmm.2 - 34 4821 c.4726G>C c.(4726-4728)GAT>CAT p.D1576H uc002gml.1_Intron NM_002472 NP_002463 RAD51C 5889 broad.mit.edu 37 17 56771096 56771096 + Intron SNP C T T rs17222691 by1000genomes 2011-2350:2012-298-T g.chr17:56771096C>T uc002iwu.2 + TEX14_uc002iwr.1_5'Flank|TEX14_uc002iws.1_5'Flank|TEX14_uc010dcz.1_5'Flank|TEX14_uc010dda.1_5'Flank|TEX14_uc010wnz.1_5'Flank|RAD51C_uc002iwt.1_Intron|RAD51C_uc010woa.1_Intron|RAD51C_uc010ddc.2_Intron|RAD51C_uc002iwv.2_Intron|RAD51C_uc002iww.2_Intron|RAD51C_uc010wob.1_Intron NM_058216 NP_478123 PIK3C3 5289 broad.mit.edu 37 18 39595516 39595516 + Missense_Mutation SNP G A A 2011-2350:2012-298-T g.chr18:39595516G>A uc002lap.2 + 12 1460 c.1402G>A c.(1402-1404)GGC>AGC p.G468S PIK3C3_uc010xcl.1_Missense_Mutation_p.G405S NM_002647 NP_002638 PHLPP1 23239 broad.mit.edu 37 18 60612536 60612536 + Intron SNP T G G rs525092 by1000genomes 2011-2350:2012-298-T g.chr18:60612536T>G uc002lis.2 + NM_194449 NP_919431 NFATC1 4772 broad.mit.edu 37 18 77254587 77254587 + Intron SNP G A A 2011-2350:2012-298-T g.chr18:77254587G>A uc010xfg.1 + NFATC1_uc002lnd.2_Intron|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Intron|NFATC1_uc002lng.2_Intron|NFATC1_uc010xfk.1_Intron NM_006162 NP_006153 RMND5A 64795 broad.mit.edu 37 2 87644888 87644888 + Intron SNP G C C 2011-2350:2012-298-T g.chr2:87644888G>C uc002srs.3 + TTN 7273 broad.mit.edu 37 2 179412629 179412629 + Missense_Mutation SNP G A A 2011-2350:2012-298-T g.chr2:179412629G>A uc010zfg.1 - 288 86244 c.86020C>T c.(86020-86022)CGT>TGT p.R28674C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22369C|TTN_uc010zfi.1_Missense_Mutation_p.R22302C|TTN_uc010zfj.1_Missense_Mutation_p.R22177C NM_133378 NP_596869 TRPM2 7226 broad.mit.edu 37 21 45784882 45784882 + Intron SNP C T T 2011-2350:2012-298-T g.chr21:45784882C>T uc002zet.1 + TRPM2_uc002zeu.1_Intron|TRPM2_uc002zew.1_Intron|TRPM2_uc010gpt.1_Intron NM_003307 NP_003298 FGFR3 2261 broad.mit.edu 37 4 1808058 1808058 + Intron SNP C T T 2011-2350:2012-298-T g.chr4:1808058C>T uc003gdr.3 + FGFR3_uc003gdu.2_Intron|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Intron NM_000142 NP_000133 REST 5978 broad.mit.edu 37 4 57775609 57775609 + Intron SNP T A A rs4109037 by1000genomes 2011-2350:2012-298-T g.chr4:57775609T>A uc003hch.2 + REST_uc003hci.2_Intron|REST_uc003hcj.1_5'Flank|REST_uc010ihf.2_5'Flank NM_005612 NP_005603 ADAMTS12 81792 broad.mit.edu 37 5 33891871 33891871 + Missense_Mutation SNP G T T 2011-2350:2012-298-T g.chr5:33891871G>T uc003jia.1 - 1 254 c.91C>A c.(91-93)CAG>AAG p.Q31K ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q31K|ADAMTS12_uc003jib.1_Missense_Mutation_p.Q31K NM_030955 NP_112217 HLA-G 3135 broad.mit.edu 37 6 29795751 29795751 + Intron SNP C T T rs111736586 2011-2350:2012-298-T g.chr6:29795751C>T uc003nnw.2 + HLA-G_uc011dmb.1_5'Flank|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 HLA-C 3107 broad.mit.edu 37 6 31237230 31237230 + Intron SNP A G G rs9264596 2011-2350:2012-298-T g.chr6:31237230A>G uc003nsy.2 - HLA-C_uc011dnj.1_Intron|HLA-C_uc003nsx.2_Intron|HLA-C_uc003nsz.2_Intron|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Intron|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron NM_002117 NP_002108 HLA-C 3107 broad.mit.edu 37 6 31237233 31237233 + Intron SNP A G G rs116398929 byFrequency;by1000genomes 2011-2350:2012-298-T g.chr6:31237233A>G uc003nsy.2 - HLA-C_uc011dnj.1_Intron|HLA-C_uc003nsx.2_Intron|HLA-C_uc003nsz.2_Intron|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Intron|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron NM_002117 NP_002108 HLA-C 3107 broad.mit.edu 37 6 31237255 31237255 + Intron SNP G A A rs2523609 2011-2350:2012-298-T g.chr6:31237255G>A uc003nsy.2 - HLA-C_uc011dnj.1_Intron|HLA-C_uc003nsx.2_Intron|HLA-C_uc003nsz.2_Intron|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Intron|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron NM_002117 NP_002108 TAP2 6891 broad.mit.edu 37 6 32806576 32806576 + 5'Flank SNP C T T rs4148869 by1000genomes 2011-2350:2012-298-T g.chr6:32806576C>T uc003occ.2 - TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003ocd.2_5'Flank NM_018833 NP_061313 TAP2 6891 broad.mit.edu 37 6 32806584 32806584 + 5'Flank SNP G A A rs111265318 2011-2350:2012-298-T g.chr6:32806584G>A uc003occ.2 - TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003ocd.2_5'Flank NM_018833 NP_061313 PIK3CG 5294 broad.mit.edu 37 7 106510076 106510076 + Intron SNP A G G rs1526083 byFrequency;by1000genomes 2011-2350:2012-298-T g.chr7:106510076A>G uc003vdv.3 + PIK3CG_uc003vdu.2_Intron|PIK3CG_uc003vdw.2_Intron NM_002649 NP_002640 MMP16 4325 broad.mit.edu 37 8 89198759 89198759 + Missense_Mutation SNP C T T 2011-2350:2012-298-T g.chr8:89198759C>T uc003yeb.3 - 3 632 c.350G>A c.(349-351)CGA>CAA p.R117Q MMP16_uc003yec.2_Missense_Mutation_p.R117Q NM_005941 NP_005932 CSMD3 114788 broad.mit.edu 37 8 113812430 113812430 + Missense_Mutation SNP C T T 2011-2350:2012-298-T g.chr8:113812430C>T uc003ynu.2 - 13 2092 c.1933G>A c.(1933-1935)GAA>AAA p.E645K CSMD3_uc003ynt.2_Missense_Mutation_p.E605K|CSMD3_uc011lhx.1_Missense_Mutation_p.E541K NM_198123 NP_937756 FANCC 2176 broad.mit.edu 37 9 98079644 98079644 + Intron SNP G A A 2011-2350:2012-298-T g.chr9:98079644G>A uc004avh.2 - FANCC_uc004avi.3_Intron|FANCC_uc010mrm.1_5'Flank|FANCC_uc011lul.1_Intron NM_000136 NP_000127 NOTCH1 4851 broad.mit.edu 37 9 139404977 139404977 + Intron SNP C T T rs143369696 by1000genomes 2011-2350:2012-298-T g.chr9:139404977C>T uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 ASMT 438 broad.mit.edu 37 X 1743584 1743584 + Intron SNP A C C 2011-2350:2012-298-T g.chrX:1743584A>C uc004cqd.2 + ASMT_uc010ncy.2_Intron|ASMT_uc004cqe.2_Intron NM_004043 NP_004034 CLCN4 1183 broad.mit.edu 37 X 10163169 10163169 + Intron SNP A C C 2011-2350:2012-298-T g.chrX:10163169A>C uc004csy.3 + CLCN4_uc011mid.1_Intron NM_001830 NP_001821 FANCM 57697 broad.mit.edu 37 14 45654384 45654384 + Intron SNP C G G 2011-2351:2012-330-T g.chr14:45654384C>G uc001wwd.3 + FANCM_uc010anf.2_Intron|FANCM_uc001wwe.3_Intron|FANCM_uc010ang.2_Intron NM_020937 NP_065988 NRXN3 9369 broad.mit.edu 37 14 80312103 80312103 + Intron SNP G C C rs112111957 2011-2351:2012-330-T g.chr14:80312103G>C uc001xun.2 + NRXN3_uc001xum.1_Intron|NRXN3_uc001xup.2_Intron|NRXN3_uc001xuq.2_Intron|NRXN3_uc010asw.2_Intron|NRXN3_uc001xur.3_Intron NM_004796 NP_004787 CSNK1G1 53944 broad.mit.edu 37 15 64648349 64648349 + 5'UTR SNP G T T 2011-2351:2012-330-T g.chr15:64648349G>T uc002anf.2 - 1 CSNK1G1_uc002anh.1_5'UTR|CSNK1G1_uc002anj.2_Intron|CSNK1G1_uc010uip.1_Intron NM_022048 NP_071331 ABAT 18 broad.mit.edu 37 16 8866694 8866694 + Missense_Mutation SNP G A A 2011-2351:2012-330-T g.chr16:8866694G>A uc002czc.3 + 12 1040 c.874G>A c.(874-876)GTG>ATG p.V292M ABAT_uc002czd.3_Missense_Mutation_p.V292M|ABAT_uc010buh.2_Missense_Mutation_p.V234M|ABAT_uc010bui.2_Missense_Mutation_p.V292M NM_020686 NP_065737 TP53 7157 broad.mit.edu 37 17 7579312 7579312 + Silent SNP C A A rs55863639 2011-2351:2012-330-T g.chr17:7579312C>A uc002gim.2 - 4 569 c.375G>T c.(373-375)ACG>ACT p.T125T TP53_uc002gig.1_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T NM_001126112 NP_001119584 TBCD 6904 broad.mit.edu 37 17 80806808 80806808 + Intron SNP C T T 2011-2351:2012-330-T g.chr17:80806808C>T uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 PIK3C3 5289 broad.mit.edu 37 18 39570683 39570683 + Intron SNP A G G rs11082257 by1000genomes 2011-2351:2012-330-T g.chr18:39570683A>G uc002lap.2 + PIK3C3_uc010xcl.1_Intron NM_002647 NP_002638 ZNF439 90594 broad.mit.edu 37 19 11978779 11978779 + Missense_Mutation SNP C G G 2011-2351:2012-330-T g.chr19:11978779C>G uc002mss.2 + 3 1023 c.895C>G c.(895-897)CAA>GAA p.Q299E ZNF439_uc002msr.2_Missense_Mutation_p.Q163E NM_152262 NP_689475 NOTCH3 4854 broad.mit.edu 37 19 15302821 15302821 + Missense_Mutation SNP C G G 2011-2351:2012-330-T g.chr19:15302821C>G uc002nan.2 - 4 705 c.629G>C c.(628-630)GGC>GCC p.G210A NOTCH3_uc002nao.1_Missense_Mutation_p.G210A NM_000435 NP_000426 C2orf65 130951 broad.mit.edu 37 2 74788278 74788278 + Intron SNP G A A 2011-2351:2012-330-T g.chr2:74788278G>A uc002smy.2 - C2orf65_uc010ysa.1_Intron|C2orf65_uc010ffp.2_Intron|C2orf65_uc002smx.2_Intron NM_138804 NP_620159 C2orf65 130951 broad.mit.edu 37 2 74788281 74788281 + Intron SNP A G G 2011-2351:2012-330-T g.chr2:74788281A>G uc002smy.2 - C2orf65_uc010ysa.1_Intron|C2orf65_uc010ffp.2_Intron|C2orf65_uc002smx.2_Intron NM_138804 NP_620159 TTN 7273 broad.mit.edu 37 2 179434525 179434525 + Missense_Mutation SNP C T T 2011-2351:2012-330-T g.chr2:179434525C>T uc010zfg.1 - 275 68854 c.68630G>A c.(68629-68631)TGT>TAT p.C22877Y uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C16572Y|TTN_uc010zfi.1_Missense_Mutation_p.C16505Y|TTN_uc010zfj.1_Missense_Mutation_p.C16380Y NM_133378 NP_596869 GPR35 2859 broad.mit.edu 37 2 241562860 241562860 + Intron SNP C T T rs34876312 by1000genomes 2011-2351:2012-330-T g.chr2:241562860C>T uc010fzh.1 + GPR35_uc010fzi.1_Intron NM_005301 NP_005292 EP300 2033 broad.mit.edu 37 22 41565575 41565575 + Missense_Mutation SNP A G G 2011-2351:2012-330-T g.chr22:41565575A>G uc003azl.3 + 26 4636 c.4241A>G c.(4240-4242)TAT>TGT p.Y1414C NM_001429 NP_001420 CNTN6 27255 broad.mit.edu 37 3 1443057 1443057 + Intron SNP A T T 2011-2351:2012-330-T g.chr3:1443057A>T uc003boz.2 + CNTN6_uc011asj.1_Intron|CNTN6_uc003bpa.2_Intron NM_014461 NP_055276 BBX 56987 broad.mit.edu 37 3 107396287 107396287 + Intron SNP T G G rs13326227 by1000genomes 2011-2351:2012-330-T g.chr3:107396287T>G uc010hpr.2 + BBX_uc003dwk.3_Intron|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Intron|BBX_uc003dwm.3_Intron NM_001142568 NP_001136040 CHCHD6 84303 broad.mit.edu 37 3 126582636 126582636 + Intron SNP C A A 2011-2351:2012-330-T g.chr3:126582636C>A uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 ZIC4 84107 broad.mit.edu 37 3 147113553 147113553 + Intron SNP C A A 2011-2351:2012-330-T g.chr3:147113553C>A uc003ewd.1 - ZIC4_uc003ewc.1_Intron|ZIC4_uc011bno.1_Intron NM_032153 NP_115529 MUC4 4585 broad.mit.edu 37 3 195503562 195503562 + Intron SNP C A A 2011-2351:2012-330-T g.chr3:195503562C>A uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 WHSC1 7468 broad.mit.edu 37 4 1943965 1943965 + Intron SNP A G G 2011-2351:2012-330-T g.chr4:1943965A>G uc003gdz.3 + WHSC1_uc003geb.3_Intron|WHSC1_uc003gec.3_Intron|WHSC1_uc003ged.3_Intron|WHSC1_uc003gee.3_Intron|WHSC1_uc003gef.3_Intron|WHSC1_uc003gei.3_Intron|WHSC1_uc003gdy.1_3'UTR|WHSC1_uc010icd.1_Intron|WHSC1_uc003gea.1_3'UTR|WHSC1_uc010ice.1_Intron|WHSC1_uc003geh.1_Intron NM_001042424 NP_001035889 WHSC1 7468 broad.mit.edu 37 4 1961137 1961137 + Intron SNP G A A rs474235 by1000genomes 2011-2351:2012-330-T g.chr4:1961137G>A uc003gdz.3 + WHSC1_uc003geb.3_Intron|WHSC1_uc003gec.3_Intron|WHSC1_uc003ged.3_Intron|WHSC1_uc003gee.3_Intron|WHSC1_uc003gef.3_Intron|WHSC1_uc003gei.3_Intron|WHSC1_uc011bvh.1_Intron|WHSC1_uc010icf.2_Intron NM_001042424 NP_001035889 PTPRN2 5799 broad.mit.edu 37 7 157852413 157852413 + Intron SNP C A A rs56162951 2011-2351:2012-330-T g.chr7:157852413C>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ARHGEF10 9639 broad.mit.edu 37 8 1788069 1788069 + Intron SNP C T T rs143383795 by1000genomes 2011-2351:2012-330-T g.chr8:1788069C>T uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 CDKN2A 1029 broad.mit.edu 37 9 21974748 21974748 + Nonsense_Mutation SNP C A A 2011-2351:2012-330-T g.chr9:21974748C>A uc003zpk.2 - 1 291 c.79G>T c.(79-81)GAG>TAG p.E27* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Nonsense_Mutation_p.E27*|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 NOTCH1 4851 broad.mit.edu 37 9 139417629 139417629 + Missense_Mutation SNP G T T 2011-2351:2012-330-T g.chr9:139417629G>T uc004chz.2 - 4 415 c.415C>A c.(415-417)CAG>AAG p.Q139K NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139417631 139417631 + Missense_Mutation SNP C T T 2011-2351:2012-330-T g.chr9:139417631C>T uc004chz.2 - 4 413 c.413G>A c.(412-414)TGC>TAC p.C138Y NM_017617 NP_060087 CACNA1B 774 broad.mit.edu 37 9 140783493 140783493 + Intron SNP C T T 2011-2351:2012-330-T g.chr9:140783493C>T uc004cog.2 + uc004cof.1_Intron NM_000718 NP_000709 NOTCH2 4853 broad.mit.edu 37 1 120510068 120510068 + Missense_Mutation SNP G C C 2011-2352:2012-297-T g.chr1:120510068G>C uc001eik.2 - 8 1697 c.1441C>G c.(1441-1443)CTG>GTG p.L481V NOTCH2_uc001eil.2_Missense_Mutation_p.L481V|NOTCH2_uc001eim.3_Missense_Mutation_p.L398V NM_024408 NP_077719 USH2A 7399 broad.mit.edu 37 1 216073513 216073513 + Missense_Mutation SNP G A A 2011-2352:2012-297-T g.chr1:216073513G>A uc001hku.1 - 40 7885 c.7498C>T c.(7498-7500)CTC>TTC p.L2500F NM_206933 NP_996816 USH2A 7399 broad.mit.edu 37 1 216219736 216219736 + Intron SNP G A A 2011-2352:2012-297-T g.chr1:216219736G>A uc001hku.1 - NM_206933 NP_996816 CUBN 8029 broad.mit.edu 37 10 16893378 16893378 + Silent SNP A G G 2011-2352:2012-297-T g.chr10:16893378A>G uc001ioo.2 - 60 9571 c.9519T>C c.(9517-9519)TCT>TCC p.S3173S CUBN_uc009xjq.1_RNA NM_001081 NP_001072 CUBN 8029 broad.mit.edu 37 10 17024404 17024404 + Intron SNP C T T rs3012484 by1000genomes 2011-2352:2012-297-T g.chr10:17024404C>T uc001ioo.2 - NM_001081 NP_001072 CUBN 8029 broad.mit.edu 37 10 17172221 17172221 + 5'Flank SNP T A A rs75701468 by1000genomes 2011-2352:2012-297-T g.chr10:17172221T>A uc001ioo.2 - NM_001081 NP_001072 MAP3K8 1326 broad.mit.edu 37 10 30728250 30728250 + Intron SNP A G G rs2907 by1000genomes 2011-2352:2012-297-T g.chr10:30728250A>G uc001ivi.1 + MAP3K8_uc009xlf.1_Intron|MAP3K8_uc001ivj.1_Intron NM_005204 NP_005195 CTNNA3 29119 broad.mit.edu 37 10 68685929 68685929 + Intron SNP G C C rs7902006 by1000genomes 2011-2352:2012-297-T g.chr10:68685929G>C uc009xpn.1 - CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Nonsense_Mutation_p.Y223*|LRRTM3_uc001jmz.1_5'UTR|LRRTM3_uc001jmy.2_5'UTR NM_001127384 NP_001120856 NRAP 4892 broad.mit.edu 37 10 115401264 115401264 + Intron SNP A G G rs3121465 by1000genomes 2011-2352:2012-297-T g.chr10:115401264A>G uc001laj.2 - NRAP_uc001lak.2_Intron|NRAP_uc001lal.3_Intron NM_198060 NP_932326 ADAM12 8038 broad.mit.edu 37 10 127727768 127727768 + Intron SNP A G G rs1278255 by1000genomes 2011-2352:2012-297-T g.chr10:127727768A>G uc001ljk.2 - ADAM12_uc010qul.1_Intron NM_003474 NP_003465 LSP1 4046 broad.mit.edu 37 11 1895297 1895297 + Intron SNP C T T 2011-2352:2012-297-T g.chr11:1895297C>T uc001lui.2 + LSP1_uc001luj.2_Intron|LSP1_uc001luk.2_Intron|LSP1_uc001lul.2_Intron|LSP1_uc001lum.2_Intron NM_002339 NP_002330 TPCN2 219931 broad.mit.edu 37 11 68844043 68844043 + Intron SNP G C C rs61881027 by1000genomes 2011-2352:2012-297-T g.chr11:68844043G>C uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_Intron NM_139075 NP_620714 LRRK2 120892 broad.mit.edu 37 12 40709185 40709185 + Intron SNP A G G rs721713 by1000genomes 2011-2352:2012-297-T g.chr12:40709185A>G uc001rmg.3 + LRRK2_uc009zjw.2_Intron|LRRK2_uc001rmi.2_Intron NM_198578 NP_940980 LRRK2 120892 broad.mit.edu 37 12 40713776 40713776 + Intron SNP C T T 2011-2352:2012-297-T g.chr12:40713776C>T uc001rmg.3 + LRRK2_uc009zjw.2_Intron|LRRK2_uc001rmi.2_Intron NM_198578 NP_940980 FLT3 2322 broad.mit.edu 37 13 28607916 28607916 + Intron SNP T A A rs2491222 by1000genomes 2011-2352:2012-297-T g.chr13:28607916T>A uc001urw.2 - FLT3_uc010aao.2_Intron|FLT3_uc010tdn.1_Intron NM_004119 NP_004110 LMF1 64788 broad.mit.edu 37 16 908718 908718 + Intron SNP G A A 2011-2352:2012-297-T g.chr16:908718G>A uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 PRKCB 5579 broad.mit.edu 37 16 24135112 24135112 + Intron SNP T C C rs1013316 by1000genomes 2011-2352:2012-297-T g.chr16:24135112T>C uc002dmd.2 + PRKCB_uc002dme.2_Intron NM_212535 NP_997700 CYLD 1540 broad.mit.edu 37 16 50785575 50785575 + Missense_Mutation SNP T C C 2011-2352:2012-297-T g.chr16:50785575T>C uc002egp.1 + 5 980 c.565T>C c.(565-567)TGT>CGT p.C189R CYLD_uc002egn.1_Missense_Mutation_p.C189R|CYLD_uc002ego.2_Missense_Mutation_p.C189R|CYLD_uc010cbs.1_Missense_Mutation_p.C189R|CYLD_uc002egq.1_Missense_Mutation_p.C189R|CYLD_uc002egr.1_Missense_Mutation_p.C189R|CYLD_uc002egs.1_Missense_Mutation_p.C189R NM_015247 NP_056062 ZNF778 197320 broad.mit.edu 37 16 89299442 89299442 + RNA SNP G A A rs62068540 by1000genomes 2011-2352:2012-297-T g.chr16:89299442G>A uc010vpf.1 + 6 c.990G>A uc010vph.1_5'Flank CPNE7 27132 broad.mit.edu 37 16 89646811 89646811 + Intron SNP G A A rs193270 by1000genomes 2011-2352:2012-297-T g.chr16:89646811G>A uc002fnp.2 + CPNE7_uc002fnq.2_Intron NM_014427 NP_055242 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G A A rs121912651 2011-2352:2012-297-T g.chr17:7577539G>A uc002gim.2 - 7 936 c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 MYH8 4626 broad.mit.edu 37 17 10307841 10307841 + Missense_Mutation SNP A C C 2011-2352:2012-297-T g.chr17:10307841A>C uc002gmm.2 - 22 2589 c.2494T>G c.(2494-2496)TGG>GGG p.W832G uc002gml.1_Intron NM_002472 NP_002463 ANKFN1 162282 broad.mit.edu 37 17 54445406 54445406 + Intron SNP T G G 2011-2352:2012-297-T g.chr17:54445406T>G uc002iun.1 + NM_153228 NP_694960 ABCA6 23460 broad.mit.edu 37 17 67109894 67109894 + Intron SNP C T T rs9282552 byFrequency;by1000genomes 2011-2352:2012-297-T g.chr17:67109894C>T uc002jhw.1 - ABCA6_uc002jhx.1_Intron NM_080284 NP_525023 ABCA6 23460 broad.mit.edu 37 17 67138138 67138138 + 5'Flank SNP C T T rs3744489 by1000genomes 2011-2352:2012-297-T g.chr17:67138138C>T uc002jhw.1 - ABCA6_uc002jhy.2_5'Flank NM_080284 NP_525023 RPTOR 57521 broad.mit.edu 37 17 78718701 78718701 + Intron SNP T C C rs140202188 by1000genomes 2011-2352:2012-297-T g.chr17:78718701T>C uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 DCC 1630 broad.mit.edu 37 18 50936780 50936780 + Intron SNP G A A rs10853631 by1000genomes 2011-2352:2012-297-T g.chr18:50936780G>A uc002lfe.1 + DCC_uc010xdr.1_Intron|DCC_uc010dpf.1_Intron NM_005215 NP_005206 KIAA1468 57614 broad.mit.edu 37 18 59894764 59894764 + Intron SNP T C C rs17717783 by1000genomes 2011-2352:2012-297-T g.chr18:59894764T>C uc002lil.2 + KIAA1468_uc002lik.1_Intron|KIAA1468_uc010xel.1_Intron|KIAA1468_uc002lim.2_Intron NM_020854 NP_065905 ZNF823 55552 broad.mit.edu 37 19 11833402 11833402 + Missense_Mutation SNP T C C 2011-2352:2012-297-T g.chr19:11833402T>C uc002msm.2 - 4 1073 c.947A>G c.(946-948)CAC>CGC p.H316R ZNF823_uc010xmd.1_Missense_Mutation_p.H134R|ZNF823_uc010dyi.1_Missense_Mutation_p.H272R NM_001080493 NP_001073962 ZNF610 162963 broad.mit.edu 37 19 52870052 52870052 + 3'UTR SNP C G G rs1054612 by1000genomes 2011-2352:2012-297-T g.chr19:52870052C>G uc002pyx.3 + 6 ZNF610_uc002pyy.3_3'UTR|ZNF610_uc002pyz.3_3'UTR|ZNF610_uc002pza.2_3'UTR NM_001161426 NP_001154898 NLRP4 147945 broad.mit.edu 37 19 56369507 56369507 + Missense_Mutation SNP G A A rs142248221 byFrequency 2011-2352:2012-297-T g.chr19:56369507G>A uc002qmd.3 + 3 1170 c.748G>A c.(748-750)GAC>AAC p.D250N NLRP4_uc002qmf.2_Missense_Mutation_p.D175N|NLRP4_uc010etf.2_Missense_Mutation_p.D81N NM_134444 NP_604393 APOB 338 broad.mit.edu 37 2 21232950 21232950 + Missense_Mutation SNP C T T 2011-2352:2012-297-T g.chr2:21232950C>T uc002red.2 - 26 6918 c.6790G>A c.(6790-6792)GAA>AAA p.E2264K NM_000384 NP_000375 APOB 338 broad.mit.edu 37 2 21251410 21251410 + Missense_Mutation SNP C G G 2011-2352:2012-297-T g.chr2:21251410C>G uc002red.2 - 13 1746 c.1618G>C c.(1618-1620)GAC>CAC p.D540H NM_000384 NP_000375 REL 5966 broad.mit.edu 37 2 61118987 61118987 + Intron SNP C A A 2011-2352:2012-297-T g.chr2:61118987C>A uc002sam.1 + REL_uc002san.1_Intron NM_002908 NP_002899 STAT1 6772 broad.mit.edu 37 2 191874777 191874777 + Intron SNP T C C 2011-2352:2012-297-T g.chr2:191874777T>C uc002usj.2 - STAT1_uc010fse.1_Intron|STAT1_uc002usk.2_Intron|STAT1_uc002usl.2_Intron|STAT1_uc010fsf.1_Intron NM_007315 NP_009330 ABCA12 26154 broad.mit.edu 37 2 215812297 215812297 + Intron SNP G A A rs2274412 by1000genomes 2011-2352:2012-297-T g.chr2:215812297G>A uc002vew.2 - ABCA12_uc002vev.2_Intron|ABCA12_uc010zjn.1_Intron NM_173076 NP_775099 ABCA12 26154 broad.mit.edu 37 2 215910786 215910786 + Intron SNP T C C rs10179876 by1000genomes 2011-2352:2012-297-T g.chr2:215910786T>C uc002vew.2 - ABCA12_uc010zjn.1_Intron NM_173076 NP_775099 CUL3 8452 broad.mit.edu 37 2 225422561 225422561 + Missense_Mutation SNP C T T 2011-2352:2012-297-T g.chr2:225422561C>T uc002vny.2 - 2 463 c.79G>A c.(79-81)GAA>AAA p.E27K CUL3_uc010zls.1_Intron|CUL3_uc010fwy.1_Missense_Mutation_p.E33K NM_003590 NP_003581 COL6A3 1293 broad.mit.edu 37 2 238277603 238277603 + Silent SNP G A A rs115551245 by1000genomes 2011-2352:2012-297-T g.chr2:238277603G>A uc002vwl.2 - 10 4788 c.4503C>T c.(4501-4503)GAC>GAT p.D1501D COL6A3_uc002vwo.2_Silent_p.D1295D|COL6A3_uc010znj.1_Silent_p.D894D NM_004369 NP_004360 TMPRSS2 7113 broad.mit.edu 37 21 42843962 42843962 + Intron SNP T A A rs458213 by1000genomes 2011-2352:2012-297-T g.chr21:42843962T>A uc002yzj.2 - TMPRSS2_uc010gor.2_Intron|TMPRSS2_uc010gos.1_Intron NM_005656 NP_005647 RIPK4 54101 broad.mit.edu 37 21 43161350 43161350 + Nonsense_Mutation SNP G C C 2011-2352:2012-297-T g.chr21:43161350G>C uc002yzn.1 - 8 2051 c.2003C>G c.(2002-2004)TCA>TGA p.S668* NM_020639 NP_065690 RAC2 5880 broad.mit.edu 37 22 37623043 37623043 + Intron SNP A C C 2011-2352:2012-297-T g.chr22:37623043A>C uc003arc.2 - NM_002872 NP_002863 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45182207 45182207 + Intron SNP G A A rs739176 by1000genomes 2011-2352:2012-297-T g.chr22:45182207G>A uc003bfd.2 + PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|ARHGAP8_uc003bfi.2_Intron|ARHGAP8_uc010gzv.2_Intron|ARHGAP8_uc003bfj.2_Intron|ARHGAP8_uc003bfk.2_Intron|ARHGAP8_uc003bfl.2_5'Flank|PRR5-ARHGAP8_uc003bfg.1_Intron NM_181335 NP_851852 GNL3 26354 broad.mit.edu 37 3 52720080 52720080 + 5'UTR SNP A C C rs1108842 by1000genomes 2011-2352:2012-297-T g.chr3:52720080A>C uc003dfd.2 + 1 PBRM1_uc003dey.2_5'Flank|GNL3_uc011beh.1_RNA|GNL3_uc003dfe.2_5'UTR|GNL3_uc003dff.2_Intron NM_014366 NP_055181 BBX 56987 broad.mit.edu 37 3 107463396 107463396 + Intron SNP G A A 2011-2352:2012-297-T g.chr3:107463396G>A uc010hpr.2 + BBX_uc003dwk.3_Intron|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Intron|BBX_uc003dwm.3_Intron NM_001142568 NP_001136040 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A G G rs121913279 2011-2352:2012-297-T g.chr3:178952085A>G uc003fjk.2 + 21 3297 c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 PCGF3 10336 broad.mit.edu 37 4 701651 701651 + Intron SNP C T T 2011-2352:2012-297-T g.chr4:701651C>T uc011bva.1 + PCGF3_uc003gbc.1_Intron|PCGF3_uc003gbd.1_Intron|PCGF3_uc003gbe.2_Intron|PCGF3_uc010ibh.2_Intron NM_006315 NP_006306 DNAH5 1767 broad.mit.edu 37 5 13752379 13752379 + Missense_Mutation SNP T A A 2011-2352:2012-297-T g.chr5:13752379T>A uc003jfd.2 - 64 10934 c.10892A>T c.(10891-10893)AAG>ATG p.K3631M DNAH5_uc003jfc.2_Translation_Start_Site NM_001369 NP_001360 PIK3R1 5295 broad.mit.edu 37 5 67575940 67575940 + Intron SNP G A A 2011-2352:2012-297-T g.chr5:67575940G>A uc003jva.2 + PIK3R1_uc003jvb.2_Intron NM_181523 NP_852664 MEF2C 4208 broad.mit.edu 37 5 88179575 88179575 + 5'Flank SNP A G G rs80043958 byFrequency;by1000genomes 2011-2352:2012-297-T g.chr5:88179575A>G uc003kjj.2 - MEF2C_uc003kjk.2_5'Flank|MEF2C_uc003kjm.2_Intron|MEF2C_uc003kjl.2_Intron NM_002397 NP_002388 GPR115 221393 broad.mit.edu 37 6 47678678 47678678 + Intron SNP C G G rs944056 by1000genomes 2011-2352:2012-297-T g.chr6:47678678C>G uc003oza.1 + GPR115_uc003oyz.1_Intron|GPR115_uc003ozb.1_Intron NM_153838 NP_722580 GPR115 221393 broad.mit.edu 37 6 47681494 47681494 + Intron SNP T C C rs6916562 by1000genomes 2011-2352:2012-297-T g.chr6:47681494T>C uc003oza.1 + GPR115_uc003oyz.1_Intron|GPR115_uc003ozb.1_Intron NM_153838 NP_722580 DST 667 broad.mit.edu 37 6 56437465 56437465 + Intron SNP T C C rs1014309 by1000genomes 2011-2352:2012-297-T g.chr6:56437465T>C uc003pdf.2 - DST_uc003pcz.3_Intron|DST_uc011dxj.1_Intron|DST_uc011dxk.1_Intron|DST_uc003pcy.3_Intron|DST_uc010kaa.1_Intron NM_001144769 NP_001138241 PHIP 55023 broad.mit.edu 37 6 79752792 79752792 + Intron SNP T C C rs9343863 by1000genomes 2011-2352:2012-297-T g.chr6:79752792T>C uc003pir.2 - PHIP_uc011dyp.1_Intron NM_017934 NP_060404 HBS1L 10767 broad.mit.edu 37 6 135375991 135375991 + 5'UTR SNP G A A rs2297339 by1000genomes 2011-2352:2012-297-T g.chr6:135375991G>A uc003qez.2 - 1 HBS1L_uc011eda.1_5'UTR|HBS1L_uc003qfa.2_5'UTR NM_006620 NP_006611 HBS1L 10767 broad.mit.edu 37 6 135376058 135376058 + 5'Flank SNP T C C rs2297340 by1000genomes 2011-2352:2012-297-T g.chr6:135376058T>C uc003qez.2 - HBS1L_uc011eda.1_5'Flank|HBS1L_uc003qfa.2_5'Flank NM_006620 NP_006611 SYNE1 23345 broad.mit.edu 37 6 152466422 152466422 + Intron SNP C T T rs2813485 by1000genomes 2011-2352:2012-297-T g.chr6:152466422C>T uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qop.3_Intron|SYNE1_uc011eez.1_Intron|SYNE1_uc003qoq.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152784373 152784373 + Intron SNP T C C 2011-2352:2012-297-T g.chr6:152784373T>C uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qpa.1_Intron|SYNE1_uc003qow.2_5'Flank|SYNE1_uc003qox.1_Intron|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Intron NM_182961 NP_892006 SMOC2 64094 broad.mit.edu 37 6 169019242 169019242 + Intron SNP G A A rs11969696 by1000genomes 2011-2352:2012-297-T g.chr6:169019242G>A uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_Intron NM_022138 NP_071421 SDK1 221935 broad.mit.edu 37 7 4257148 4257148 + Intron SNP C A A 2011-2352:2012-297-T g.chr7:4257148C>A uc003smx.2 + SDK1_uc010kso.2_Intron|SDK1_uc003smy.2_Intron NM_152744 NP_689957 ADCY1 107 broad.mit.edu 37 7 45688282 45688282 + Missense_Mutation SNP G A A 2011-2352:2012-297-T g.chr7:45688282G>A uc003tne.3 + 5 1052 c.1034G>A c.(1033-1035)CGC>CAC p.R345H ADCY1_uc003tnd.2_Missense_Mutation_p.R120H NM_021116 NP_066939 PKD1L1 168507 broad.mit.edu 37 7 47915890 47915890 + Intron SNP C T T rs4724656 by1000genomes 2011-2352:2012-297-T g.chr7:47915890C>T uc003tny.1 - NM_138295 NP_612152 WBSCR17 64409 broad.mit.edu 37 7 71036257 71036257 + Intron SNP C G G 2011-2352:2012-297-T g.chr7:71036257C>G uc003tvy.2 + WBSCR17_uc003tvz.2_Intron NM_022479 NP_071924 PCLO 27445 broad.mit.edu 37 7 82585375 82585375 + Missense_Mutation SNP C T T 2011-2352:2012-297-T g.chr7:82585375C>T uc003uhx.2 - 5 5183 c.4894G>A c.(4894-4896)GAA>AAA p.E1632K PCLO_uc003uhv.2_Missense_Mutation_p.E1632K NM_033026 NP_149015 MLL3 58508 broad.mit.edu 37 7 151859602 151859602 + Missense_Mutation SNP C T T 2011-2352:2012-297-T g.chr7:151859602C>T uc003wla.2 - 43 11279 c.11060G>A c.(11059-11061)AGT>AAT p.S3687N MLL3_uc003wkz.2_Missense_Mutation_p.S2748N|MLL3_uc003wky.2_Missense_Mutation_p.S1196N NM_170606 NP_733751 PTPRN2 5799 broad.mit.edu 37 7 157851205 157851205 + Intron SNP G C C 2011-2352:2012-297-T g.chr7:157851205G>C uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157851273 157851273 + Intron SNP C T T 2011-2352:2012-297-T g.chr7:157851273C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157851307 157851307 + Intron SNP C A A 2011-2352:2012-297-T g.chr7:157851307C>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PKHD1L1 93035 broad.mit.edu 37 8 110457656 110457656 + Missense_Mutation SNP G T T 2011-2352:2012-297-T g.chr8:110457656G>T uc003yne.2 + 38 5662 c.5558G>T c.(5557-5559)GGA>GTA p.G1853V NM_177531 NP_803875 ENPP2 5168 broad.mit.edu 37 8 120651589 120651589 + 5'Flank SNP C G G 2011-2352:2012-297-T g.chr8:120651589C>G uc003yot.1 - ENPP2_uc003yos.1_5'Flank|ENPP2_uc010mdd.1_5'Flank NM_001040092 NP_001035181 NFIB 4781 broad.mit.edu 37 9 14306884 14306884 + Intron SNP T C C rs10961471 by1000genomes 2011-2352:2012-297-T g.chr9:14306884T>C uc003zle.2 - NFIB_uc003zlf.2_Intron|NFIB_uc011lmo.1_Intron NM_005596 NP_005587 NFIB 4781 broad.mit.edu 37 9 14313712 14313712 + 5'UTR SNP T G G rs2273933 by1000genomes 2011-2352:2012-297-T g.chr9:14313712T>G uc003zle.2 - 1 NFIB_uc003zlf.2_5'UTR|NFIB_uc011lmo.1_5'UTR NM_005596 NP_005587 HDX 139324 broad.mit.edu 37 X 83599408 83599408 + Missense_Mutation SNP G C C 2011-2352:2012-297-T g.chrX:83599408G>C uc004eek.1 - 6 1619 c.1510C>G c.(1510-1512)CCA>GCA p.P504A HDX_uc011mqv.1_Missense_Mutation_p.P504A|HDX_uc004eel.1_Missense_Mutation_p.P446A NM_144657 NP_653258 MRE11A 4361 broad.mit.edu 37 11 94208583 94208583 + Intron SNP C T T rs114584241 by1000genomes 2011-2353:2012-296-T g.chr11:94208583C>T uc001peu.2 - MRE11A_uc001pev.2_Intron|MRE11A_uc009ywj.2_Intron NM_005591 NP_005582 TSPAN9 10867 broad.mit.edu 37 12 3377532 3377532 + Intron SNP C G G 2011-2353:2012-296-T g.chr12:3377532C>G uc001qlp.2 + NM_006675 NP_006666 PIK3C2G 5288 broad.mit.edu 37 12 18641519 18641519 + Missense_Mutation SNP G A A 2011-2353:2012-296-T g.chr12:18641519G>A uc001rdt.2 + 18 2634 c.2518G>A c.(2518-2520)GAT>AAT p.D840N PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.D881N|PIK3C2G_uc010sic.1_Missense_Mutation_p.D659N NM_004570 NP_004561 LMF1 64788 broad.mit.edu 37 16 1000081 1000081 + Intron SNP A C C 2011-2353:2012-296-T g.chr16:1000081A>C uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 CYLD 1540 broad.mit.edu 37 16 50820905 50820905 + Intron SNP C T T 2011-2353:2012-296-T g.chr16:50820905C>T uc002egp.1 + CYLD_uc010cbs.1_Intron|CYLD_uc002egq.1_Intron|CYLD_uc002egr.1_Intron|CYLD_uc002egs.1_Missense_Mutation_p.H694Y NM_015247 NP_056062 TP53 7157 broad.mit.edu 37 17 7577498 7577498 + Splice_Site SNP C A A 2011-2353:2012-296-T g.chr17:7577498C>A uc002gim.2 - 7 976 c.782_splice c.e7+1 p.S261_splice TP53_uc002gig.1_Splice_Site_p.R261_splice|TP53_uc002gih.2_Splice_Site_p.S261_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.S129_splice|TP53_uc010cng.1_Splice_Site_p.S129_splice|TP53_uc002gii.1_Splice_Site_p.S129_splice|TP53_uc010cnh.1_Splice_Site_p.S261_splice|TP53_uc010cni.1_Splice_Site_p.S261_splice|TP53_uc002gij.2_Splice_Site_p.S261_splice NM_001126112 NP_001119584 TP53 7157 broad.mit.edu 37 17 7578645 7578645 + Intron SNP C T T rs2909430 byFrequency;by1000genomes 2011-2353:2012-296-T g.chr17:7578645C>T uc002gim.2 - TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Intron|TP53_uc010cni.1_Intron|TP53_uc002gij.2_Intron|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Intron NM_001126112 NP_001119584 MYH13 8735 broad.mit.edu 37 17 10247225 10247225 + Missense_Mutation SNP G T T 2011-2353:2012-296-T g.chr17:10247225G>T uc002gmk.1 - 16 1876 c.1786C>A c.(1786-1788)CTG>ATG p.L596M MYH13_uc010vvf.1_Missense_Mutation_p.L271M NM_003802 NP_003793 MYH1 4619 broad.mit.edu 37 17 10403949 10403949 + Missense_Mutation SNP C G G 2011-2353:2012-296-T g.chr17:10403949C>G uc002gmo.2 - 28 3953 c.3859G>C c.(3859-3861)GAA>CAA p.E1287Q uc002gml.1_Intron NM_005963 NP_005954 RPTOR 57521 broad.mit.edu 37 17 78718285 78718285 + Intron SNP A T T 2011-2353:2012-296-T g.chr17:78718285A>T uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 ZNF521 25925 broad.mit.edu 37 18 22805977 22805977 + Missense_Mutation SNP G C C 2011-2353:2012-296-T g.chr18:22805977G>C uc002kvk.2 - 4 2152 c.1905C>G c.(1903-1905)ATC>ATG p.I635M ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.I635M|ZNF521_uc002kvl.2_Missense_Mutation_p.I415M NM_015461 NP_056276 MBP 4155 broad.mit.edu 37 18 74749252 74749252 + Intron SNP G A A rs116665438 by1000genomes 2011-2353:2012-296-T g.chr18:74749252G>A uc010xfd.1 - MBP_uc002lmr.2_Intron NM_001025101 NP_001020272 FANCL 55120 broad.mit.edu 37 2 58457016 58457016 + Intron SNP T C C 2011-2353:2012-296-T g.chr2:58457016T>C uc002rzw.3 - FANCL_uc002rzx.3_Intron|FANCL_uc010fce.2_Intron|FANCL_uc010fcf.1_Intron NM_018062 NP_060532 CTNNA2 1496 broad.mit.edu 37 2 80531878 80531878 + Intron SNP G C C 2011-2353:2012-296-T g.chr2:80531878G>C uc010ysh.1 + CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_5'Flank|LRRTM1_uc002sok.1_5'Flank NM_004389 NP_004380 SULT4A1 25830 broad.mit.edu 37 22 44230330 44230330 + Intron SNP C T T 2011-2353:2012-296-T g.chr22:44230330C>T uc003bee.1 - SULT4A1_uc003bed.1_Intron|SULT4A1_uc003bef.1_Intron|SULT4A1_uc011aqb.1_Intron NM_014351 NP_055166 PLXNA1 5361 broad.mit.edu 37 3 126751306 126751306 + Missense_Mutation SNP G A A 2011-2353:2012-296-T g.chr3:126751306G>A uc003ejg.2 + 29 5243 c.5239G>A c.(5239-5241)GAC>AAC p.D1747N PLXNA1_uc003ejh.2_Missense_Mutation_p.D415N NM_032242 NP_115618 PIK3CB 5291 broad.mit.edu 37 3 138376705 138376705 + Intron SNP T C C 2011-2353:2012-296-T g.chr3:138376705T>C uc011bmq.1 - PIK3CB_uc011bmn.1_Intron|PIK3CB_uc011bmo.1_Intron|PIK3CB_uc011bmp.1_Intron|PIK3CB_uc003est.1_5'Flank NM_006219 NP_006210 PIK3CB 5291 broad.mit.edu 37 3 138417989 138417989 + Intron SNP G A A rs361080 by1000genomes 2011-2353:2012-296-T g.chr3:138417989G>A uc011bmq.1 - PIK3CB_uc011bmn.1_Intron|PIK3CB_uc011bmo.1_Intron|PIK3CB_uc011bmp.1_Intron NM_006219 NP_006210 PIK3CA 5290 broad.mit.edu 37 3 178922274 178922274 + Intron SNP C A A rs2699896 by1000genomes 2011-2353:2012-296-T g.chr3:178922274C>A uc003fjk.2 + NM_006218 NP_006209 PIK3CA 5290 broad.mit.edu 37 3 178942431 178942431 + Intron SNP C G G rs2699889 by1000genomes 2011-2353:2012-296-T g.chr3:178942431C>G uc003fjk.2 + NM_006218 NP_006209 ANKRD17 26057 broad.mit.edu 37 4 73962998 73962998 + Intron SNP A C C 2011-2353:2012-296-T g.chr4:73962998A>C uc003hgp.2 - ANKRD17_uc003hgo.2_Intron|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Intron NM_032217 NP_115593 FAT2 2196 broad.mit.edu 37 5 150922707 150922707 + Missense_Mutation SNP T A A 2011-2353:2012-296-T g.chr5:150922707T>A uc003lue.3 - 9 7994 c.7981A>T c.(7981-7983)ATC>TTC p.I2661F GM2A_uc011dcs.1_Intron NM_001447 NP_001438 HLA-A 3105 broad.mit.edu 37 6 29911030 29911030 + Intron SNP C T T rs113224809 by1000genomes 2011-2353:2012-296-T g.chr6:29911030C>T uc003nol.2 + HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Intron|HLA-A_uc003noo.2_Intron|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank NM_002116 NP_002107 PTPRN2 5799 broad.mit.edu 37 7 158332568 158332568 + Intron SNP C T T 2011-2353:2012-296-T g.chr7:158332568C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|uc003wnu.1_RNA|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ARHGEF10 9639 broad.mit.edu 37 8 1788069 1788069 + Intron SNP C T T rs143383795 by1000genomes 2011-2353:2012-296-T g.chr8:1788069C>T uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 NECAB1 64168 broad.mit.edu 37 8 91813957 91813957 + Intron SNP T A A 2011-2353:2012-296-T g.chr8:91813957T>A uc011lgg.1 + NM_022351 NP_071746 CSMD3 114788 broad.mit.edu 37 8 113871504 113871504 + Intron SNP G T T 2011-2353:2012-296-T g.chr8:113871504G>T uc003ynu.2 - CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CD274 29126 broad.mit.edu 37 9 5467955 5467955 + 3'UTR SNP G A A rs2297136 by1000genomes 2011-2353:2012-296-T g.chr9:5467955G>A uc003zje.2 + 7 C9orf46_uc003zjd.2_Intron|CD274_uc010mhn.2_RNA|CD274_uc003zjf.2_3'UTR NM_014143 NP_054862 MELK 9833 broad.mit.edu 37 9 36633214 36633214 + Intron SNP C G G 2011-2353:2012-296-T g.chr9:36633214C>G uc003zzn.2 + MELK_uc011lpm.1_Intron|MELK_uc011lpn.1_Intron|MELK_uc011lpo.1_Intron|MELK_uc010mll.2_Intron|MELK_uc011lpp.1_Intron|MELK_uc010mlm.2_Intron|MELK_uc011lpq.1_Intron|MELK_uc011lpr.1_Intron|MELK_uc011lps.1_Intron NM_014791 NP_055606 RGS7 6000 broad.mit.edu 37 1 241162014 241162015 + Intron DNP CT AG AG 2011-2354:2012-295-T g.chr1:241162014_241162015CT>AG uc001hyv.2 - RGS7_uc010pyh.1_Intron|RGS7_uc010pyj.1_Intron|RGS7_uc001hyu.2_Intron|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Intron NM_002924 NP_002915 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T A A rs121913233 2011-2354:2012-295-T g.chr11:533874T>A uc001lpv.2 - 3 370 c.182A>T c.(181-183)CAG>CTG p.Q61L HRAS_uc010qvw.1_Missense_Mutation_p.Q61L|HRAS_uc010qvx.1_Missense_Mutation_p.Q61L|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 B2M 567 broad.mit.edu 37 15 45009596 45009596 + Intron SNP C A A 2011-2354:2012-295-T g.chr15:45009596C>A uc001zuc.2 + NM_004048 NP_004039 RPH3AL 9501 broad.mit.edu 37 17 165200 165200 + Intron SNP G A A rs71369091 2011-2354:2012-295-T g.chr17:165200G>A uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Missense_Mutation SNP C T T rs112431538 2011-2354:2012-295-T g.chr17:7577085C>T uc002gim.2 - 8 1047 c.853G>A c.(853-855)GAG>AAG p.E285K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153K|TP53_uc010cng.1_Missense_Mutation_p.E153K|TP53_uc002gii.1_Missense_Mutation_p.E153K|TP53_uc010cnh.1_Missense_Mutation_p.E285K|TP53_uc010cni.1_Missense_Mutation_p.E285K|TP53_uc002gij.2_Missense_Mutation_p.E285K NM_001126112 NP_001119584 MYH2 4620 broad.mit.edu 37 17 10429261 10429261 + Intron SNP C T T rs36082989 by1000genomes 2011-2354:2012-295-T g.chr17:10429261C>T uc010coi.2 - uc002gml.1_Intron|MYH2_uc002gmp.3_Intron|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 DNMT3A 1788 broad.mit.edu 37 2 25536923 25536923 + 5'UTR SNP C T T 2011-2354:2012-295-T g.chr2:25536923C>T uc002rgc.2 - 2 DNMT3A_uc002rgd.2_5'UTR|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rge.2_5'UTR|DNMT3A_uc002rgf.2_5'UTR NM_022552 NP_072046 MAP2 4133 broad.mit.edu 37 2 210526161 210526161 + Intron SNP C A A 2011-2354:2012-295-T g.chr2:210526161C>A uc002vde.1 + MAP2_uc002vdc.1_Intron|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Intron NM_002374 NP_002365 ERBB4 2066 broad.mit.edu 37 2 212652918 212652918 + Intron SNP C G G 2011-2354:2012-295-T g.chr2:212652918C>G uc002veg.1 - ERBB4_uc002veh.1_Intron|ERBB4_uc010zji.1_Intron|ERBB4_uc010zjj.1_Intron|ERBB4_uc010fut.1_Intron NM_005235 NP_005226 SYNE1 23345 broad.mit.edu 37 6 152642885 152642885 + Missense_Mutation SNP C T T 2011-2354:2012-295-T g.chr6:152642885C>T uc010kiw.2 - 83 16656 c.16054G>A c.(16054-16056)GAA>AAA p.E5352K SYNE1_uc003qot.3_Missense_Mutation_p.E5281K|SYNE1_uc003qou.3_Missense_Mutation_p.E5352K|SYNE1_uc010kiz.2_Missense_Mutation_p.E1107K NM_182961 NP_892006 SRPK2 6733 broad.mit.edu 37 7 104782444 104782444 + Intron SNP G T T 2011-2354:2012-295-T g.chr7:104782444G>T uc003vct.2 - SRPK2_uc003vcu.2_Intron|SRPK2_uc003vcv.2_Intron|SRPK2_uc003vcw.1_Intron NM_182691 NP_872633 WRN 7486 broad.mit.edu 37 8 30916836 30916836 + Intron SNP A G G 2011-2354:2012-295-T g.chr8:30916836A>G uc003xio.3 + NM_000553 NP_000544 NOTCH1 4851 broad.mit.edu 37 9 139396851 139396851 + Missense_Mutation SNP C T T 2011-2354:2012-295-T g.chr9:139396851C>T uc004chz.2 - 28 5257 c.5257G>A c.(5257-5259)GGG>AGG p.G1753R NM_017617 NP_060087 PPP2R3B 28227 broad.mit.edu 37 X 323960 323960 + Intron SNP C T T 2011-2354:2012-295-T g.chrX:323960C>T uc004cpg.2 - PPP2R3B_uc011mha.1_Intron NM_013239 NP_037371 TTC7B 145567 broad.mit.edu 37 14 91039733 91039733 + Intron SNP C T T rs1286488 by1000genomes 2011-2355:2012-294-T g.chr14:91039733C>T uc001xyp.2 - TTC7B_uc001xyo.2_Intron|TTC7B_uc010ats.2_Intron NM_001010854 NP_001010854 DOT1L 84444 broad.mit.edu 37 19 2201186 2201186 + Intron SNP C G G 2011-2355:2012-294-T g.chr19:2201186C>G uc002lvb.3 + NM_032482 NP_115871 ARHGEF10 9639 broad.mit.edu 37 8 1868030 1868030 + Intron SNP G A A rs73182782 by1000genomes 2011-2355:2012-294-T g.chr8:1868030G>A uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron|ARHGEF10_uc003wpv.2_Intron|ARHGEF10_uc010lre.2_Intron NM_014629 NP_055444 MACF1 23499 broad.mit.edu 37 1 39908030 39908030 + Intron SNP C G G 2011-2356:2012-293-T g.chr1:39908030C>G uc010oiu.1 + MACF1_uc010ois.1_Intron NM_033044 NP_149033 ADARB2 105 broad.mit.edu 37 10 1502751 1502751 + Intron SNP A T T rs141602997 2011-2356:2012-293-T g.chr10:1502751A>T uc009xhq.2 - NM_018702 NP_061172 INPP5A 3632 broad.mit.edu 37 10 134540469 134540469 + Intron SNP G A A 2011-2356:2012-293-T g.chr10:134540469G>A uc001llp.2 + INPP5A_uc001llo.1_Intron|INPP5A_uc001llq.2_Intron NM_005539 NP_005530 GPR123 84435 broad.mit.edu 37 10 134891920 134891921 + Intron DNP TT GC GC 2011-2356:2012-293-T g.chr10:134891920_134891921TT>GC uc001llw.2 + MUC2 4583 broad.mit.edu 37 11 1092973 1092973 + Missense_Mutation SNP C T T 2011-2356:2012-293-T g.chr11:1092973C>T uc001lsx.1 + 31 11905 c.11878C>T c.(11878-11880)CCC>TCC p.P3960S NM_002457 NP_002448 B4GALNT3 283358 broad.mit.edu 37 12 620844 620844 + Intron SNP C T T rs150970810 by1000genomes 2011-2356:2012-293-T g.chr12:620844C>T uc001qii.1 + NM_173593 NP_775864 HYDIN 54768 broad.mit.edu 37 16 70995845 70995845 + Intron SNP C T T rs138353494 2011-2356:2012-293-T g.chr16:70995845C>T uc002ezr.2 - NM_032821 NP_116210 NCOR1 9611 broad.mit.edu 37 17 15971377 15971377 + Silent SNP G A A 2011-2356:2012-293-T g.chr17:15971377G>A uc002gpo.2 - 32 4812 c.4572C>T c.(4570-4572)ACC>ACT p.T1524T NCOR1_uc002gpn.2_Silent_p.T1540T|NCOR1_uc002gpm.2_Silent_p.T45T|NCOR1_uc010vwb.1_Silent_p.T108T|NCOR1_uc010coy.2_Silent_p.T432T|NCOR1_uc010vwc.1_Silent_p.T335T NM_006311 NP_006302 LTBP1 4052 broad.mit.edu 37 2 33359134 33359134 + Intron SNP T G G 2011-2356:2012-293-T g.chr2:33359134T>G uc002ros.2 + LTBP1_uc002rot.2_5'Flank|LTBP1_uc002rou.2_5'Flank|LTBP1_uc002rov.2_5'Flank|LTBP1_uc010ymz.1_5'Flank|LTBP1_uc010yna.1_5'Flank NM_206943 NP_996826 RMND5A 64795 broad.mit.edu 37 2 87626056 87626056 + Intron SNP C G G 2011-2356:2012-293-T g.chr2:87626056C>G uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87626254 87626254 + Intron SNP C T T rs6745184 2011-2356:2012-293-T g.chr2:87626254C>T uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87644457 87644457 + Intron SNP C T T 2011-2356:2012-293-T g.chr2:87644457C>T uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87644462 87644462 + Intron SNP T G G 2011-2356:2012-293-T g.chr2:87644462T>G uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87656188 87656188 + Intron SNP C A A 2011-2356:2012-293-T g.chr2:87656188C>A uc002srs.3 + PAX3 5077 broad.mit.edu 37 2 223160203 223160203 + Intron SNP C A A 2011-2356:2012-293-T g.chr2:223160203C>A uc010fwo.2 - PAX3_uc002vmt.1_Intron|PAX3_uc002vmy.1_Intron|PAX3_uc002vmv.1_Intron|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron|PAX3_uc002vmz.1_Intron|PAX3_uc002vna.1_Intron|CCDC140_uc002vnb.1_5'Flank NM_181457 NP_852122 PIK3CB 5291 broad.mit.edu 37 3 138383879 138383879 + Missense_Mutation SNP C G G 2011-2356:2012-293-T g.chr3:138383879C>G uc011bmq.1 - 18 2671 c.2671G>C c.(2671-2673)GGG>CGG p.G891R PIK3CB_uc011bmn.1_Missense_Mutation_p.G403R|PIK3CB_uc011bmo.1_Missense_Mutation_p.G342R|PIK3CB_uc011bmp.1_Missense_Mutation_p.G478R NM_006219 NP_006210 MUC4 4585 broad.mit.edu 37 3 195503630 195503630 + Intron SNP C A A 2011-2356:2012-293-T g.chr3:195503630C>A uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 SORCS2 57537 broad.mit.edu 37 4 7707890 7707890 + Intron SNP T C C rs112695922 2011-2356:2012-293-T g.chr4:7707890T>C uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 PIK3R1 5295 broad.mit.edu 37 5 67590534 67590534 + Intron SNP G C C 2011-2356:2012-293-T g.chr5:67590534G>C uc003jva.2 + PIK3R1_uc003jvb.2_Intron|PIK3R1_uc003jvc.2_Intron|PIK3R1_uc003jvd.2_Intron|PIK3R1_uc003jve.2_Intron|PIK3R1_uc011crb.1_Intron NM_181523 NP_852664 EPHA7 2045 broad.mit.edu 37 6 94120398 94120399 + Missense_Mutation DNP GT AA AA 2011-2356:2012-293-T g.chr6:94120398_94120399GT>AA uc003poe.2 - 3 893_894 c.652_653AC>TT c.(652-654)ACA>TTA p.T218L EPHA7_uc003pof.2_Missense_Mutation_p.T218L|EPHA7_uc011eac.1_Missense_Mutation_p.T218L|EPHA7_uc003pog.3_Missense_Mutation_p.T218L NM_004440 NP_004431 ZNF804B 219578 broad.mit.edu 37 7 88965325 88965325 + Missense_Mutation SNP A G G rs141887526 2011-2356:2012-293-T g.chr7:88965325A>G uc011khi.1 + 4 3567 c.3029A>G c.(3028-3030)CAC>CGC p.H1010R NM_181646 NP_857597 FOXP2 93986 broad.mit.edu 37 7 114268630 114268630 + Silent SNP G A A 2011-2356:2012-293-T g.chr7:114268630G>A uc003vhb.2 + 4 668 c.294G>A c.(292-294)GTG>GTA p.V98V FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.V123V|FOXP2_uc003vha.2_Silent_p.V6V|FOXP2_uc011kmu.1_Silent_p.V98V|FOXP2_uc011kmv.1_Silent_p.V98V|FOXP2_uc010ljz.1_Silent_p.V6V|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.V98V|FOXP2_uc003vgw.2_Silent_p.V123V|FOXP2_uc003vgx.2_Silent_p.V98V|FOXP2_uc003vhd.2_Silent_p.V98V|FOXP2_uc003vhc.2_Silent_p.V123V NM_014491 NP_055306 PTPRN2 5799 broad.mit.edu 37 7 157509760 157509760 + Intron SNP C T T 2011-2356:2012-293-T g.chr7:157509760C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 CSMD3 114788 broad.mit.edu 37 8 113662398 113662398 + Missense_Mutation SNP G A A 2011-2356:2012-293-T g.chr8:113662398G>A uc003ynu.2 - 19 3344 c.3185C>T c.(3184-3186)ACC>ATC p.T1062I CSMD3_uc003yns.2_Missense_Mutation_p.T334I|CSMD3_uc003ynt.2_Missense_Mutation_p.T1022I|CSMD3_uc011lhx.1_Missense_Mutation_p.T958I NM_198123 NP_937756 FLJ43860 389690 broad.mit.edu 37 8 142507389 142507389 + Intron SNP C T T rs140373041 by1000genomes 2011-2356:2012-293-T g.chr8:142507389C>T uc003ywi.2 - FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank NM_207414 NP_997297 SSU72 29101 broad.mit.edu 37 1 1479051 1479051 + Intron SNP C G G 2011-2357:2012-292-T g.chr1:1479051C>G uc001agd.2 - SSU72_uc009vkg.1_3'UTR NM_014188 NP_054907 CABC1 56997 broad.mit.edu 37 1 227147802 227147802 + Intron SNP A G G 2011-2357:2012-292-T g.chr1:227147802A>G uc001hqm.1 + CABC1_uc010pvp.1_Intron|CABC1_uc001hqn.1_Intron|CABC1_uc009xeq.1_Intron|CABC1_uc010pvq.1_Intron NM_020247 NP_064632 ART1 417 broad.mit.edu 37 11 3675781 3675781 + Intron SNP G C C 2011-2357:2012-292-T g.chr11:3675781G>C uc001lye.1 + ART1_uc009yeb.1_Intron NM_004314 NP_004305 MDM2 4193 broad.mit.edu 37 12 69218402 69218402 + Nonsense_Mutation SNP C G G 2011-2357:2012-292-T g.chr12:69218402C>G uc001sui.2 + 7 781 c.494C>G c.(493-495)TCA>TGA p.S165* MDM2_uc009zri.2_Nonsense_Mutation_p.S120*|MDM2_uc009zqx.2_Intron|MDM2_uc009zqw.2_Intron|MDM2_uc001suk.2_Intron|MDM2_uc009zqy.1_Nonsense_Mutation_p.S154*|MDM2_uc001sun.3_Intron|MDM2_uc009zqz.2_Nonsense_Mutation_p.S159*|MDM2_uc009zra.2_Intron|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_5'UTR|MDM2_uc009zrc.2_5'UTR|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Intron|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Intron NM_002392 NP_002383 COL4A2 1284 broad.mit.edu 37 13 111134175 111134175 + Intron SNP C T T rs113269533 by1000genomes 2011-2357:2012-292-T g.chr13:111134175C>T uc001vqx.2 + NM_001846 NP_001837 TFDP1 7027 broad.mit.edu 37 13 114279903 114279903 + Intron SNP G C C rs147288683 by1000genomes 2011-2357:2012-292-T g.chr13:114279903G>C uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 LMF1 64788 broad.mit.edu 37 16 1000027 1000027 + Intron SNP A C C 2011-2357:2012-292-T g.chr16:1000027A>C uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 ABAT 18 broad.mit.edu 37 16 8807164 8807164 + Intron SNP G T T 2011-2357:2012-292-T g.chr16:8807164G>T uc002czc.3 + ABAT_uc002czd.3_5'UTR|ABAT_uc010buh.2_5'UTR NM_020686 NP_065737 PHKG2 5261 broad.mit.edu 37 16 30760548 30760548 + Intron SNP T G G 2011-2357:2012-292-T g.chr16:30760548T>G uc002dzk.1 + PHKG2_uc002dzi.1_Intron|PHKG2_uc002dzj.1_Intron|PHKG2_uc002dzl.1_Intron NM_000294 NP_000285 CYLD 1540 broad.mit.edu 37 16 50830261 50830261 + Nonsense_Mutation SNP C T T 2011-2357:2012-292-T g.chr16:50830261C>T uc002egp.1 + 19 3128 c.2713C>T c.(2713-2715)CAA>TAA p.Q905* CYLD_uc002egq.1_Nonsense_Mutation_p.Q902*|CYLD_uc002egr.1_Nonsense_Mutation_p.Q902* NM_015247 NP_056062 CDH13 1012 broad.mit.edu 37 16 83692110 83692110 + Intron SNP C T T 2011-2357:2012-292-T g.chr16:83692110C>T uc002fgx.2 + CDH13_uc010vns.1_Intron|CDH13_uc010vnt.1_Intron|CDH13_uc010vnu.1_Intron NM_001257 NP_001248 CDH13 1012 broad.mit.edu 37 16 83692133 83692133 + Intron SNP G A A 2011-2357:2012-292-T g.chr16:83692133G>A uc002fgx.2 + CDH13_uc010vns.1_Intron|CDH13_uc010vnt.1_Intron|CDH13_uc010vnu.1_Intron NM_001257 NP_001248 NCOR1 9611 broad.mit.edu 37 17 16098172 16098172 + Intron SNP T C C 2011-2357:2012-292-T g.chr17:16098172T>C uc002gpo.2 - NCOR1_uc002gpn.2_5'Flank|NCOR1_uc002gpp.1_5'Flank|NCOR1_uc002gpr.2_5'Flank|NCOR1_uc002gps.1_Intron|NCOR1_uc010coz.1_Intron|NCOR1_uc010cpb.1_Intron|NCOR1_uc010cpa.1_Intron|NCOR1_uc002gpu.2_Intron NM_006311 NP_006302 KIF1A 547 broad.mit.edu 37 2 241720318 241720318 + Intron SNP G C C rs72431760 2011-2357:2012-292-T g.chr2:241720318G>C uc002vzy.2 - KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron NM_004321 NP_004312 CECR5 27440 broad.mit.edu 37 22 17628462 17628462 + Intron SNP C T T 2011-2357:2012-292-T g.chr22:17628462C>T uc002zmf.2 - CECR5_uc002zme.2_Intron|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Intron NM_033070 NP_149061 CNTN6 27255 broad.mit.edu 37 3 1427223 1427223 + Intron SNP T C C 2011-2357:2012-292-T g.chr3:1427223T>C uc003boz.2 + CNTN6_uc011asj.1_Intron|CNTN6_uc003bpa.2_Intron NM_014461 NP_055276 SORCS2 57537 broad.mit.edu 37 4 7707890 7707890 + Intron SNP T C C rs112695922 2011-2357:2012-292-T g.chr4:7707890T>C uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 FAT4 79633 broad.mit.edu 37 4 126237674 126237674 + Silent SNP G T T 2011-2357:2012-292-T g.chr4:126237674G>T uc003ifj.3 + 1 108 c.108G>T c.(106-108)GGG>GGT p.G36G NM_024582 NP_078858 PCLO 27445 broad.mit.edu 37 7 82560980 82560980 + Intron SNP T C C 2011-2357:2012-292-T g.chr7:82560980T>C uc003uhx.2 - PCLO_uc003uhv.2_Intron|PCLO_uc010lec.2_Intron NM_033026 NP_149015 TRRAP 8295 broad.mit.edu 37 7 98609856 98609856 + Missense_Mutation SNP A C C 2011-2357:2012-292-T g.chr7:98609856A>C uc003upp.2 + 72 11667 c.11458A>C c.(11458-11460)ACC>CCC p.T3820P TRRAP_uc011kis.1_Missense_Mutation_p.T3791P|TRRAP_uc003upr.2_Missense_Mutation_p.T3526P|TRRAP_uc003ups.2_5'Flank NM_003496 NP_003487 CSMD3 114788 broad.mit.edu 37 8 114389479 114389479 + Intron SNP C T T 2011-2357:2012-292-T g.chr8:114389479C>T uc003ynu.2 - CSMD3_uc003ynt.2_5'Flank|CSMD3_uc011lhx.1_Intron|CSMD3_uc010mcx.1_Intron|CSMD3_uc003ynx.3_Intron NM_198123 NP_937756 EHMT1 79813 broad.mit.edu 37 9 140674708 140674708 + Intron SNP G A A 2011-2357:2012-292-T g.chr9:140674708G>A uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 CSF2RA 1438 broad.mit.edu 37 X 1412738 1412738 + Intron SNP G A A 2011-2357:2012-292-T g.chrX:1412738G>A uc010nct.2 + CSF2RA_uc011mhb.1_Intron|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Intron|CSF2RA_uc004cpo.2_Intron|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Intron|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_Intron|CSF2RA_uc004cpr.2_Intron NM_001161529 NP_001155001 SSU72 29101 broad.mit.edu 37 1 1479057 1479057 + Intron SNP A T T rs61777888 2011-2358:2012-1325-T g.chr1:1479057A>T uc001agd.2 - SSU72_uc009vkg.1_3'UTR NM_014188 NP_054907 COL11A1 1301 broad.mit.edu 37 1 103352383 103352383 + Missense_Mutation SNP C T T 2011-2358:2012-1325-T g.chr1:103352383C>T uc001dul.2 - 63 5156 c.4838G>A c.(4837-4839)AGC>AAC p.S1613N COL11A1_uc001duk.2_Missense_Mutation_p.S809N|COL11A1_uc001dum.2_Missense_Mutation_p.S1625N|COL11A1_uc001dun.2_Missense_Mutation_p.S1574N|COL11A1_uc009weh.2_Missense_Mutation_p.S1497N NM_001854 NP_001845 PDE4DIP 9659 broad.mit.edu 37 1 144903139 144903139 + Missense_Mutation SNP T A A 2011-2358:2012-1325-T g.chr1:144903139T>A uc001elw.3 - 21 3044 c.2753A>T c.(2752-2754)GAA>GTA p.E918V NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E984V|PDE4DIP_uc001emc.1_Missense_Mutation_p.E918V|PDE4DIP_uc001emd.1_Missense_Mutation_p.E918V|PDE4DIP_uc001emb.1_Missense_Mutation_p.E1081V|PDE4DIP_uc001eme.1_Intron|PDE4DIP_uc001emf.1_Missense_Mutation_p.E703V NM_014644 NP_055459 ASH1L 55870 broad.mit.edu 37 1 155319043 155319043 + Intron SNP T G G 2011-2358:2012-1325-T g.chr1:155319043T>G uc009wqq.2 - RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Intron|MIR555_hsa-mir-555|MI0003561_5'Flank NM_018489 NP_060959 SPTA1 6708 broad.mit.edu 37 1 158653161 158653161 + Silent SNP C T T 2011-2358:2012-1325-T g.chr1:158653161C>T uc001fst.1 - 3 589 c.390G>A c.(388-390)AAG>AAA p.K130K NM_003126 NP_003117 SMYD3 64754 broad.mit.edu 37 1 246139751 246139751 + Intron SNP G A A 2011-2358:2012-1325-T g.chr1:246139751G>A uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 ADAM12 8038 broad.mit.edu 37 10 127806836 127806836 + Intron SNP A G G 2011-2358:2012-1325-T g.chr10:127806836A>G uc001ljk.2 - ADAM12_uc010qul.1_Intron|ADAM12_uc001ljm.2_Intron|ADAM12_uc001ljn.2_Intron|ADAM12_uc001ljl.3_Intron NM_003474 NP_003465 AP2A2 161 broad.mit.edu 37 11 980331 980331 + Intron SNP C G G 2011-2358:2012-1325-T g.chr11:980331C>G uc001lss.2 + AP2A2_uc001lst.1_Intron|AP2A2_uc009yco.1_Intron|AP2A2_uc001lsu.1_Intron NM_012305 NP_036437 SHANK2 22941 broad.mit.edu 37 11 70797348 70797348 + Intron SNP A G G 2011-2358:2012-1325-T g.chr11:70797348A>G uc001oqc.2 - NM_012309 NP_036441 NAV3 89795 broad.mit.edu 37 12 78593314 78593314 + Intron SNP G T T 2011-2358:2012-1325-T g.chr12:78593314G>T uc001syp.2 + NAV3_uc001syo.2_Intron|NAV3_uc010sub.1_Intron|NAV3_uc009zsf.2_Intron NM_014903 NP_055718 ANO4 121601 broad.mit.edu 37 12 101381342 101381342 + Missense_Mutation SNP C T T 2011-2358:2012-1325-T g.chr12:101381342C>T uc010svm.1 + 8 1200 c.628C>T c.(628-630)CGG>TGG p.R210W ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.R175W|ANO4_uc001thx.2_Missense_Mutation_p.R210W NM_178826 NP_849148 SYNE2 23224 broad.mit.edu 37 14 64681950 64681950 + Intron SNP G T T 2011-2358:2012-1325-T g.chr14:64681950G>T uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_Intron|SYNE2_uc010tsi.1_Intron|SYNE2_uc001xgs.2_Intron|SYNE2_uc001xgt.2_5'Flank NM_015180 NP_055995 INO80 54617 broad.mit.edu 37 15 41324176 41324176 + Intron SNP C G G rs145399822 by1000genomes 2011-2358:2012-1325-T g.chr15:41324176C>G uc001zni.2 - INO80_uc010ucu.1_Intron NM_017553 NP_060023 DNAH3 55567 broad.mit.edu 37 16 21051126 21051126 + Intron SNP C T T 2011-2358:2012-1325-T g.chr16:21051126C>T uc010vbe.1 - NM_017539 NP_060009 FANCA 2175 broad.mit.edu 37 16 89812778 89812778 + Intron SNP G A A rs45524337 byFrequency;by1000genomes 2011-2358:2012-1325-T g.chr16:89812778G>A uc002fou.1 - FANCA_uc010vpn.1_Intron|FANCA_uc010vpo.1_Intron NM_000135 NP_000126 FANCA 2175 broad.mit.edu 37 16 89812809 89812809 + Intron SNP C G G rs17233609 by1000genomes 2011-2358:2012-1325-T g.chr16:89812809C>G uc002fou.1 - FANCA_uc010vpn.1_Intron|FANCA_uc010vpo.1_Intron NM_000135 NP_000126 ABR 29 broad.mit.edu 37 17 1046605 1046605 + Intron SNP G A A 2011-2358:2012-1325-T g.chr17:1046605G>A uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 PER1 5187 broad.mit.edu 37 17 8056059 8056059 + 5'Flank SNP C T T 2011-2358:2012-1325-T g.chr17:8056059C>T uc002gkd.2 - PER1_uc010vuq.1_5'Flank|PER1_uc010vur.1_Intron|PER1_uc010vus.1_5'Flank NM_002616 NP_002607 BZRAP1 9256 broad.mit.edu 37 17 56405454 56405454 + 5'UTR SNP C T T 2011-2358:2012-1325-T g.chr17:56405454C>T uc002ivx.3 - 1 BZRAP1_uc010dcs.2_5'UTR|BZRAP1_uc010wnt.1_5'UTR|uc010dct.1_5'Flank|uc010dcu.1_5'Flank NM_004758 NP_004749 BRIP1 83990 broad.mit.edu 37 17 59770942 59770942 + Intron SNP G T T 2011-2358:2012-1325-T g.chr17:59770942G>T uc002izk.1 - BRIP1_uc002izl.1_Intron NM_032043 NP_114432 SNTG2 54221 broad.mit.edu 37 2 961054 961054 + Intron SNP A G G rs148475182 by1000genomes 2011-2358:2012-1325-T g.chr2:961054A>G uc002qwq.2 + SNTG2_uc002qwp.2_Intron|SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 RMND5A 64795 broad.mit.edu 37 2 87623808 87623808 + Intron SNP G A A 2011-2358:2012-1325-T g.chr2:87623808G>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87623844 87623844 + Intron SNP C T T rs139485573 by1000genomes 2011-2358:2012-1325-T g.chr2:87623844C>T uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87626246 87626246 + Intron SNP G A A 2011-2358:2012-1325-T g.chr2:87626246G>A uc002srs.3 + NFE2L2 4780 broad.mit.edu 37 2 178098944 178098944 + Missense_Mutation SNP C T T 2011-2358:2012-1325-T g.chr2:178098944C>T uc002ulh.3 - 2 656 c.101G>A c.(100-102)CGA>CAA p.R34Q NFE2L2_uc002ulg.3_Missense_Mutation_p.R18Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18Q|NFE2L2_uc002uli.3_Missense_Mutation_p.R18Q|NFE2L2_uc010fra.2_Missense_Mutation_p.R18Q|NFE2L2_uc010frb.2_Missense_Mutation_p.R18Q NM_006164 NP_006155 TTN 7273 broad.mit.edu 37 2 179431660 179431660 + Missense_Mutation SNP T C C 2011-2358:2012-1325-T g.chr2:179431660T>C uc010zfg.1 - 275 71719 c.71495A>G c.(71494-71496)AAA>AGA p.K23832R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K17527R|TTN_uc010zfi.1_Missense_Mutation_p.K17460R|TTN_uc010zfj.1_Missense_Mutation_p.K17335R NM_133378 NP_596869 PTK6 5753 broad.mit.edu 37 20 62161418 62161418 + Intron SNP G C C rs374800 by1000genomes 2011-2358:2012-1325-T g.chr20:62161418G>C uc002yfg.2 - PTK6_uc011aay.1_Intron|PTK6_uc011aaz.1_Missense_Mutation_p.T156S NM_005975 NP_005966 C21orf56 84221 broad.mit.edu 37 21 47603426 47603426 + 5'UTR SNP T C C rs141064018 by1000genomes 2011-2358:2012-1325-T g.chr21:47603426T>C uc011afu.1 - 2 C21orf56_uc002zii.2_Intron NM_001142854 NP_001136326 PHF21B 112885 broad.mit.edu 37 22 45280198 45280198 + Intron SNP C G G 2011-2358:2012-1325-T g.chr22:45280198C>G uc003bfn.2 - PHF21B_uc003bfm.2_Intron|PHF21B_uc011aqk.1_Intron|PHF21B_uc011aql.1_Intron NM_138415 NP_612424 EPM2AIP1 9852 broad.mit.edu 37 3 37034725 37034725 + Translation_Start_Site SNP T C C 2011-2358:2012-1325-T g.chr3:37034725T>C uc003cgk.2 - 1 71 c.-156A>G c.(-158--154)ATATC>ATGTC MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank NM_014805 NP_055620 POLQ 10721 broad.mit.edu 37 3 121207855 121207855 + Missense_Mutation SNP A G G 2011-2358:2012-1325-T g.chr3:121207855A>G uc003eee.3 - 16 4052 c.3923T>C c.(3922-3924)GTT>GCT p.V1308A POLQ_uc003eed.2_Missense_Mutation_p.V480A NM_199420 NP_955452 SORBS2 8470 broad.mit.edu 37 4 186718044 186718044 + Intron SNP A G G rs10866284 by1000genomes 2011-2358:2012-1325-T g.chr4:186718044A>G uc003iyl.2 - SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Intron|SORBS2_uc011cky.1_Intron|SORBS2_uc003iyp.2_Intron NM_021069 NP_066547 CEP72 55722 broad.mit.edu 37 5 650097 650097 + Intron SNP T C C 2011-2358:2012-1325-T g.chr5:650097T>C uc003jbf.2 + NM_018140 NP_060610 SLC6A3 6531 broad.mit.edu 37 5 1423019 1423019 + Intron SNP C T T 2011-2358:2012-1325-T g.chr5:1423019C>T uc003jck.2 - NM_001044 NP_001035 CTNND2 1501 broad.mit.edu 37 5 11732225 11732225 + Intron SNP C T T 2011-2358:2012-1325-T g.chr5:11732225C>T uc003jfa.1 - CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron NM_001332 NP_001323 IL6ST 3572 broad.mit.edu 37 5 55248240 55248240 + Intron SNP G A A rs111767547 by1000genomes 2011-2358:2012-1325-T g.chr5:55248240G>A uc003jqq.2 - IL6ST_uc010iwb.2_Intron|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Intron|IL6ST_uc003jqr.2_Intron|IL6ST_uc010iwe.1_5'Flank NM_002184 NP_002175 HMP19 51617 broad.mit.edu 37 5 173495830 173495830 + Intron SNP A G G rs28571655 2011-2358:2012-1325-T g.chr5:173495830A>G uc003mcx.2 + NM_015980 NP_057064 HIST1H2AK 8330 broad.mit.edu 37 6 27805991 27805991 + Silent SNP G T T rs141332149 byFrequency 2011-2358:2012-1325-T g.chr6:27805991G>T uc003njs.2 - 1 127 c.127C>A c.(127-129)CGG>AGG p.R43R HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank NM_003510 NP_003501 GPR115 221393 broad.mit.edu 37 6 47680158 47680158 + Silent SNP T C C 2011-2358:2012-1325-T g.chr6:47680158T>C uc003oza.1 + 5 624 c.366T>C c.(364-366)TTT>TTC p.F122F GPR115_uc003oyz.1_Silent_p.F179F|GPR115_uc003ozb.1_Silent_p.F120F NM_153838 NP_722580 SYNE1 23345 broad.mit.edu 37 6 152629645 152629645 + Silent SNP C T T 2011-2358:2012-1325-T g.chr6:152629645C>T uc010kiw.2 - 91 17927 c.17325G>A c.(17323-17325)CAG>CAA p.Q5775Q SYNE1_uc010kiv.2_Silent_p.Q299Q|SYNE1_uc003qos.3_Silent_p.Q299Q|SYNE1_uc003qot.3_Silent_p.Q5704Q|SYNE1_uc003qou.3_Silent_p.Q5775Q NM_182961 NP_892006 WBSCR17 64409 broad.mit.edu 37 7 70886069 70886069 + Missense_Mutation SNP G A A 2011-2358:2012-1325-T g.chr7:70886069G>A uc003tvy.2 + 5 940 c.940G>A c.(940-942)GGA>AGA p.G314R WBSCR17_uc003tvz.2_Missense_Mutation_p.G13R NM_022479 NP_071924 BRAF 673 broad.mit.edu 37 7 140434330 140434330 + 3'UTR SNP T A A 2011-2358:2012-1325-T g.chr7:140434330T>A uc003vwc.3 - 18 NM_004333 NP_004324 CNTNAP2 26047 broad.mit.edu 37 7 147964053 147964053 + Intron SNP C T T 2011-2358:2012-1325-T g.chr7:147964053C>T uc003weu.1 + NM_014141 NP_054860 PTPRN2 5799 broad.mit.edu 37 7 157851125 157851125 + Intron SNP C T T 2011-2358:2012-1325-T g.chr7:157851125C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157851342 157851342 + Intron SNP G A A 2011-2358:2012-1325-T g.chr7:157851342G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158316206 158316206 + Intron SNP G A A 2011-2358:2012-1325-T g.chr7:158316206G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ARHGEF10 9639 broad.mit.edu 37 8 1788062 1788062 + Intron SNP G C C 2011-2358:2012-1325-T g.chr8:1788062G>C uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 ARHGEF10 9639 broad.mit.edu 37 8 1788101 1788101 + Intron SNP T C C 2011-2358:2012-1325-T g.chr8:1788101T>C uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 UBR5 51366 broad.mit.edu 37 8 103424808 103424808 + 5'Flank SNP G A A rs35655607 by1000genomes 2011-2358:2012-1325-T g.chr8:103424808G>A uc003ykr.1 - UBR5_uc003yks.1_5'Flank NM_015902 NP_056986 CSMD3 114788 broad.mit.edu 37 8 113569031 113569031 + Nonsense_Mutation SNP C A A 2011-2358:2012-1325-T g.chr8:113569031C>A uc003ynu.2 - 25 4354 c.4195G>T c.(4195-4197)GAG>TAG p.E1399* CSMD3_uc003yns.2_Nonsense_Mutation_p.E671*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.E1359*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.E1295* NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113933874 113933874 + Missense_Mutation SNP G C C 2011-2358:2012-1325-T g.chr8:113933874G>C uc003ynu.2 - 10 1774 c.1615C>G c.(1615-1617)CAC>GAC p.H539D CSMD3_uc003ynt.2_Missense_Mutation_p.H499D|CSMD3_uc011lhx.1_Missense_Mutation_p.H435D NM_198123 NP_937756 FAM135B 51059 broad.mit.edu 37 8 139160746 139160746 + Intron SNP C A A 2011-2358:2012-1325-T g.chr8:139160746C>A uc003yuy.2 - FAM135B_uc003yux.2_Intron|FAM135B_uc003yuz.2_Intron|FAM135B_uc003yva.2_Intron|FAM135B_uc003yvb.2_Intron NM_015912 NP_056996 FANCC 2176 broad.mit.edu 37 9 97912213 97912213 + Silent SNP G A A 2011-2358:2012-1325-T g.chr9:97912213G>A uc004avh.2 - 7 940 c.678C>T c.(676-678)GCC>GCT p.A226A FANCC_uc004avi.3_Silent_p.A226A|FANCC_uc010mrm.1_RNA|FANCC_uc011lul.1_RNA NM_000136 NP_000127 NOTCH1 4851 broad.mit.edu 37 9 139399111 139399111 + Intron SNP C T T 2011-2358:2012-1325-T g.chr9:139399111C>T uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 ENTPD2 954 broad.mit.edu 37 9 139944692 139944692 + Intron SNP C T T rs113613518 2011-2358:2012-1325-T g.chr9:139944692C>T uc004ckw.1 - ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Intron NM_203468 NP_982293 RGAG1 57529 broad.mit.edu 37 X 109697237 109697237 + Missense_Mutation SNP C T T rs140356169 byFrequency 2011-2358:2012-1325-T g.chrX:109697237C>T uc004eor.1 + 3 3638 c.3392C>T c.(3391-3393)GCG>GTG p.A1131V RGAG1_uc011msr.1_Missense_Mutation_p.A1131V NM_020769 NP_065820 MAGEC2 51438 broad.mit.edu 37 X 141290639 141290639 + 3'UTR SNP A T T 2011-2358:2012-1325-T g.chrX:141290639A>T uc004fbu.1 - 3 NM_016249 NP_057333 C1orf173 127254 broad.mit.edu 37 1 75072264 75072264 + Intron SNP G T T rs41289216 by1000genomes 2011-2359:2012-1341-T g.chr1:75072264G>T uc001dgg.2 - uc001dgh.2_Intron|C1orf173_uc001dgi.3_Intron NM_001002912 NP_001002912 PCDH15 65217 broad.mit.edu 37 10 55721532 55721532 + Missense_Mutation SNP C T T 2011-2359:2012-1341-T g.chr10:55721532C>T uc001jju.1 - 22 3384 c.2989G>A c.(2989-2991)GAA>AAA p.E997K PCDH15_uc010qhq.1_Missense_Mutation_p.E1002K|PCDH15_uc010qhr.1_Missense_Mutation_p.E997K|PCDH15_uc010qhs.1_Missense_Mutation_p.E1009K|PCDH15_uc010qht.1_Missense_Mutation_p.E1004K|PCDH15_uc010qhu.1_Missense_Mutation_p.E997K|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.E997K|PCDH15_uc010qhw.1_Missense_Mutation_p.E960K|PCDH15_uc010qhx.1_Missense_Mutation_p.E926K|PCDH15_uc010qhy.1_Missense_Mutation_p.E1002K|PCDH15_uc010qhz.1_Missense_Mutation_p.E997K|PCDH15_uc010qia.1_Missense_Mutation_p.E975K|PCDH15_uc010qib.1_Missense_Mutation_p.E975K NM_033056 NP_149045 PIK3C2G 5288 broad.mit.edu 37 12 18656218 18656218 + Nonsense_Mutation SNP T A A 2011-2359:2012-1341-T g.chr12:18656218T>A uc001rdt.2 + 22 3013 c.2897T>A c.(2896-2898)TTG>TAG p.L966* PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Nonsense_Mutation_p.L1007*|PIK3C2G_uc010sic.1_Nonsense_Mutation_p.L785* NM_004570 NP_004561 MCF2L 23263 broad.mit.edu 37 13 113717797 113717797 + Intron SNP T C C rs12584235 by1000genomes 2011-2359:2012-1341-T g.chr13:113717797T>C uc001vsu.2 + MCF2L_uc001vsq.2_Intron|MCF2L_uc010tjr.1_Intron|MCF2L_uc001vsr.2_Intron|MCF2L_uc001vss.3_Intron|MCF2L_uc010tjs.1_Intron|MCF2L_uc001vst.1_Intron NM_001112732 NP_001106203 RAB40C 57799 broad.mit.edu 37 16 664497 664497 + Intron SNP C T T 2011-2359:2012-1341-T g.chr16:664497C>T uc002chr.2 + RAB40C_uc002chq.2_Intron NM_021168 NP_066991 TCF25 22980 broad.mit.edu 37 16 89945823 89945823 + Intron SNP A G G 2011-2359:2012-1341-T g.chr16:89945823A>G uc002fpb.2 + TCF25_uc010vpp.1_Intron NM_014972 NP_055787 MYH13 8735 broad.mit.edu 37 17 10253892 10253892 + Silent SNP C T T 2011-2359:2012-1341-T g.chr17:10253892C>T uc002gmk.1 - 12 1215 c.1125G>A c.(1123-1125)GCG>GCA p.A375A MYH13_uc010vvf.1_Silent_p.A50A NM_003802 NP_003793 ABCA9 10350 broad.mit.edu 37 17 67039878 67039878 + Intron SNP C A A 2011-2359:2012-1341-T g.chr17:67039878C>A uc002jhu.2 - ABCA9_uc010dez.2_Intron|ABCA9_uc002jhv.2_Intron NM_080283 NP_525022 RMND5A 64795 broad.mit.edu 37 2 87653136 87653136 + Intron SNP G C C 2011-2359:2012-1341-T g.chr2:87653136G>C uc002srs.3 + TTLL8 164714 broad.mit.edu 37 22 50467412 50467412 + Intron SNP C T T 2011-2359:2012-1341-T g.chr22:50467412C>T uc011ark.1 - NM_001080447 NP_001073916 ANKRD17 26057 broad.mit.edu 37 4 74012462 74012462 + Intron SNP A T T rs13149759 by1000genomes 2011-2359:2012-1341-T g.chr4:74012462A>T uc003hgp.2 - ANKRD17_uc003hgo.2_Intron|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Intron|ANKRD17_uc011cbd.1_Intron NM_032217 NP_115593 RPS6KA2 6196 broad.mit.edu 37 6 166995355 166995355 + Intron SNP G T T 2011-2359:2012-1341-T g.chr6:166995355G>T uc003qvb.1 - RPS6KA2_uc003qvc.1_Intron|RPS6KA2_uc003qvd.1_Intron NM_021135 NP_066958 SMOC2 64094 broad.mit.edu 37 6 169019161 169019161 + Intron SNP G C C rs11969678 by1000genomes 2011-2359:2012-1341-T g.chr6:169019161G>C uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_Intron NM_022138 NP_071421 MMP16 4325 broad.mit.edu 37 8 89180175 89180175 + Silent SNP T A A 2011-2359:2012-1341-T g.chr8:89180175T>A uc003yeb.3 - 4 714 c.432A>T c.(430-432)GGA>GGT p.G144G MMP16_uc003yec.2_Silent_p.G144G NM_005941 NP_005932 NOTCH1 4851 broad.mit.edu 37 9 139403004 139403004 + Intron SNP C A A 2011-2359:2012-1341-T g.chr9:139403004C>A uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 AGRN 375790 broad.mit.edu 37 1 966171 966171 + Intron SNP T C C rs148331946 by1000genomes 2011-2360:2012-325-T g.chr1:966171T>C uc001ack.1 + NM_198576 NP_940978 ASH1L 55870 broad.mit.edu 37 1 155451950 155451950 + Silent SNP C T T 2011-2360:2012-325-T g.chr1:155451950C>T uc009wqq.2 - 3 1191 c.711G>A c.(709-711)CCG>CCA p.P237P ASH1L_uc001fkt.2_Silent_p.P237P|ASH1L_uc009wqr.1_Silent_p.P237P NM_018489 NP_060959 MDM4 4194 broad.mit.edu 37 1 204518842 204518842 + 3'UTR SNP C A A rs4245739 by1000genomes 2011-2360:2012-325-T g.chr1:204518842C>A uc001hba.2 + 11 MDM4_uc001hbd.1_RNA|MDM4_uc010pqx.1_3'UTR|MDM4_uc001hay.1_3'UTR|MDM4_uc001hbb.2_3'UTR|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_Intron|MDM4_uc009xbe.1_Intron NM_002393 NP_002384 NINJ2 4815 broad.mit.edu 37 12 692365 692365 + Intron SNP G A A 2011-2360:2012-325-T g.chr12:692365G>A uc001qil.2 - NINJ2_uc010sdr.1_Intron|NINJ2_uc010sds.1_Intron NM_016533 NP_057617 COL4A2 1284 broad.mit.edu 37 13 111038187 111038187 + Intron SNP T C C 2011-2360:2012-325-T g.chr13:111038187T>C uc001vqx.2 + NM_001846 NP_001837 ATP11A 23250 broad.mit.edu 37 13 113527471 113527471 + Intron SNP G A A 2011-2360:2012-325-T g.chr13:113527471G>A uc001vsi.3 + ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_Intron NM_015205 NP_056020 RPH3AL 9501 broad.mit.edu 37 17 164593 164593 + Intron SNP A G G rs62053698 by1000genomes 2011-2360:2012-325-T g.chr17:164593A>G uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 TP53 7157 broad.mit.edu 37 17 7578403 7578403 + Missense_Mutation SNP C A A 2011-2360:2012-325-T g.chr17:7578403C>A uc002gim.2 - 5 721 c.527G>T c.(526-528)TGC>TTC p.C176F TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.2_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.1_Missense_Mutation_p.C137F NM_001126112 NP_001119584 INPP4A 3631 broad.mit.edu 37 2 99060983 99060983 + 5'Flank SNP G C C 2011-2360:2012-325-T g.chr2:99060983G>C uc002syy.2 + INPP4A_uc010yvj.1_5'Flank|INPP4A_uc010yvk.1_5'Flank|INPP4A_uc002syx.2_5'Flank|INPP4A_uc010fik.2_5'Flank NM_001134224 NP_001127696 COL6A3 1293 broad.mit.edu 37 2 238245128 238245128 + Missense_Mutation SNP G A A 2011-2360:2012-325-T g.chr2:238245128G>A uc002vwl.2 - 40 8900 c.8615C>T c.(8614-8616)ACG>ATG p.T2872M COL6A3_uc002vwo.2_Missense_Mutation_p.T2666M|COL6A3_uc010znj.1_Missense_Mutation_p.T2265M|COL6A3_uc002vwj.2_Missense_Mutation_p.T253M NM_004369 NP_004360 ASXL1 171023 broad.mit.edu 37 20 30945739 30945739 + 5'Flank SNP A C C 2011-2360:2012-325-T g.chr20:30945739A>C uc002wxs.2 + ASXL1_uc002wxr.1_5'Flank NM_015338 NP_056153 INPP4B 8821 broad.mit.edu 37 4 143067038 143067038 + Missense_Mutation SNP C T T 2011-2360:2012-325-T g.chr4:143067038C>T uc003iix.3 - 19 2270 c.1675G>A c.(1675-1677)GAA>AAA p.E559K INPP4B_uc003iiw.3_Missense_Mutation_p.E559K|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.E374K|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.E430K NM_003866 NP_003857 AHRR 57491 broad.mit.edu 37 5 398312 398312 + Intron SNP G A A 2011-2360:2012-325-T g.chr5:398312G>A uc003jav.2 + AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Intron NM_020731 NP_065782 MAP3K1 4214 broad.mit.edu 37 5 56177571 56177571 + Missense_Mutation SNP C A A 2011-2360:2012-325-T g.chr5:56177571C>A uc003jqw.3 + 14 3045 c.2544C>A c.(2542-2544)CAC>CAA p.H848Q NM_005921 NP_005912 HLA-F 3134 broad.mit.edu 37 6 29691841 29691841 + Intron SNP C T T 2011-2360:2012-325-T g.chr6:29691841C>T uc010jrl.2 + HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Intron|HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron NM_018950 NP_061823 PPP1R14C 81706 broad.mit.edu 37 6 150518982 150518982 + Intron SNP C T T 2011-2360:2012-325-T g.chr6:150518982C>T uc003qnt.2 + NM_030949 NP_112211 SYNE1 23345 broad.mit.edu 37 6 152523036 152523036 + Nonsense_Mutation SNP G A A 2011-2360:2012-325-T g.chr6:152523036G>A uc010kiw.2 - 127 23670 c.23068C>T c.(23068-23070)CGA>TGA p.R7690* SYNE1_uc010kiv.2_Nonsense_Mutation_p.R2214*|SYNE1_uc003qos.3_Nonsense_Mutation_p.R2214*|SYNE1_uc003qot.3_Nonsense_Mutation_p.R7619*|SYNE1_uc003qou.3_Nonsense_Mutation_p.R7690*|SYNE1_uc003qor.3_Nonsense_Mutation_p.R590* NM_182961 NP_892006 UPK3B 80761 broad.mit.edu 37 7 76154009 76154009 + Intron SNP G A A 2011-2360:2012-325-T g.chr7:76154009G>A uc003ufq.2 + UPK3B_uc003ufo.2_Intron NM_030570 NP_085047 MLL3 58508 broad.mit.edu 37 7 151879592 151879592 + Nonsense_Mutation SNP G A A 2011-2360:2012-325-T g.chr7:151879592G>A uc003wla.2 - 36 5572 c.5353C>T c.(5353-5355)CAA>TAA p.Q1785* MLL3_uc003wkz.2_Nonsense_Mutation_p.Q846* NM_170606 NP_733751 PKHD1L1 93035 broad.mit.edu 37 8 110476470 110476470 + Missense_Mutation SNP G A A 2011-2360:2012-325-T g.chr8:110476470G>A uc003yne.2 + 49 7513 c.7409G>A c.(7408-7410)CGG>CAG p.R2470Q NM_177531 NP_803875 PARP10 84875 broad.mit.edu 37 8 145055714 145055714 + Intron SNP A G G rs141035878 2011-2360:2012-325-T g.chr8:145055714A>G uc003zal.3 - PARP10_uc003zak.3_Intron|PARP10_uc011lku.1_Intron|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Intron NM_032789 NP_116178 NOTCH1 4851 broad.mit.edu 37 9 139402525 139402525 + Missense_Mutation SNP C T T 2011-2360:2012-325-T g.chr9:139402525C>T uc004chz.2 - 21 3392 c.3392G>A c.(3391-3393)TGC>TAC p.C1131Y NOTCH1_uc004cia.1_Missense_Mutation_p.C361Y NM_017617 NP_060087 NBPF1 55672 broad.mit.edu 37 1 16908080 16908080 + Intron SNP G A A rs2119896 by1000genomes 2011-2361:2012-1294-T g.chr1:16908080G>A uc009vos.1 - NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Intron NM_017940 NP_060410 USH2A 7399 broad.mit.edu 37 1 215844408 215844409 + Missense_Mutation DNP TG AA AA 2011-2361:2012-1294-T g.chr1:215844408_215844409TG>AA uc001hku.1 - 64 14425_14426 c.14038_14039CA>TT c.(14038-14040)CAG>TTG p.Q4680L NM_206933 NP_996816 USH2A 7399 broad.mit.edu 37 1 215990360 215990360 + Silent SNP A T T 2011-2361:2012-1294-T g.chr1:215990360A>T uc001hku.1 - 48 9936 c.9549T>A c.(9547-9549)ATT>ATA p.I3183I NM_206933 NP_996816 OR5L2 26338 broad.mit.edu 37 11 55595574 55595574 + Missense_Mutation SNP A T T 2011-2361:2012-1294-T g.chr11:55595574A>T uc001nhy.1 + 1 880 c.880A>T c.(880-882)AAT>TAT p.N294Y NM_001004739 NP_001004739 AHNAK 79026 broad.mit.edu 37 11 62298698 62298699 + Missense_Mutation DNP GC AA AA 2011-2361:2012-1294-T g.chr11:62298698_62298699GC>AA uc001ntl.2 - 5 3490_3491 c.3190_3191GC>TT c.(3190-3192)GCT>TTT p.A1064F AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 KDM5A 5927 broad.mit.edu 37 12 464479 464479 + Intron SNP C A A 2011-2361:2012-1294-T g.chr12:464479C>A uc001qif.1 - KDM5A_uc001qie.1_Intron|KDM5A_uc010sdn.1_Intron|KDM5A_uc010sdo.1_Intron NM_001042603 NP_001036068 ACTN1 87 broad.mit.edu 37 14 69395812 69395812 + Intron SNP C G G rs4435181 2011-2361:2012-1294-T g.chr14:69395812C>G uc001xkl.2 - ACTN1_uc010ttb.1_Intron|ACTN1_uc001xkm.2_Intron|ACTN1_uc001xkn.2_Intron|ACTN1_uc001xko.1_Intron|ACTN1_uc010ttd.1_Intron NM_001102 NP_001093 DICER1 23405 broad.mit.edu 37 14 95561955 95561955 + Intron SNP C T T 2011-2361:2012-1294-T g.chr14:95561955C>T uc001ydw.2 - DICER1_uc010avh.1_Intron|DICER1_uc001ydv.2_Intron|DICER1_uc001ydx.2_Intron|DICER1_uc001ydy.1_3'UTR NM_030621 NP_085124 CSNK1G1 53944 broad.mit.edu 37 15 64648348 64648348 + 5'UTR SNP C A A 2011-2361:2012-1294-T g.chr15:64648348C>A uc002anf.2 - 1 CSNK1G1_uc002anh.1_5'UTR|CSNK1G1_uc002anj.2_Intron|CSNK1G1_uc010uip.1_Intron NM_022048 NP_071331 LMF1 64788 broad.mit.edu 37 16 1003917 1003917 + Intron SNP C T T 2011-2361:2012-1294-T g.chr16:1003917C>T uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 ABR 29 broad.mit.edu 37 17 1021169 1021169 + Intron SNP G A A 2011-2361:2012-1294-T g.chr17:1021169G>A uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C T T rs28934578 2011-2361:2012-1294-T g.chr17:7578406C>T uc002gim.2 - 5 718 c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H NM_001126112 NP_001119584 MYH13 8735 broad.mit.edu 37 17 10261093 10261093 + Missense_Mutation SNP C G G 2011-2361:2012-1294-T g.chr17:10261093C>G uc002gmk.1 - 8 787 c.697G>C c.(697-699)GGA>CGA p.G233R NM_003802 NP_003793 ABCA9 10350 broad.mit.edu 37 17 67013994 67013994 + Intron SNP A T T 2011-2361:2012-1294-T g.chr17:67013994A>T uc002jhu.2 - ABCA9_uc010dez.2_Intron NM_080283 NP_525022 ZNF443 10224 broad.mit.edu 37 19 12541141 12541141 + Silent SNP C A A 2011-2361:2012-1294-T g.chr19:12541141C>A uc002mtu.2 - 4 2043 c.1845G>T c.(1843-1845)CCG>CCT p.P615P NM_005815 NP_005806 RMND5A 64795 broad.mit.edu 37 2 87656072 87656072 + Intron SNP C G G 2011-2361:2012-1294-T g.chr2:87656072C>G uc002srs.3 + LRP1B 53353 broad.mit.edu 37 2 142044180 142044180 + Intron SNP C G G 2011-2361:2012-1294-T g.chr2:142044180C>G uc002tvj.1 - LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 TTN 7273 broad.mit.edu 37 2 179421829 179421829 + Missense_Mutation SNP G C C 2011-2361:2012-1294-T g.chr2:179421829G>C uc010zfg.1 - 279 80572 c.80348C>G c.(80347-80349)TCT>TGT p.S26783C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S20478C|TTN_uc010zfi.1_Missense_Mutation_p.S20411C|TTN_uc010zfj.1_Missense_Mutation_p.S20286C NM_133378 NP_596869 CUL3 8452 broad.mit.edu 37 2 225339256 225339256 + Intron SNP T C C 2011-2361:2012-1294-T g.chr2:225339256T>C uc002vny.2 - CUL3_uc010zls.1_Intron|CUL3_uc010fwy.1_Intron NM_003590 NP_003581 ASXL1 171023 broad.mit.edu 37 20 30945739 30945739 + 5'Flank SNP A C C 2011-2361:2012-1294-T g.chr20:30945739A>C uc002wxs.2 + ASXL1_uc002wxr.1_5'Flank NM_015338 NP_056153 ASXL1 171023 broad.mit.edu 37 20 30945745 30945745 + 5'Flank SNP A C C 2011-2361:2012-1294-T g.chr20:30945745A>C uc002wxs.2 + ASXL1_uc002wxr.1_5'Flank NM_015338 NP_056153 BAGE2 85319 broad.mit.edu 37 21 11098891 11098891 + 5'UTR SNP G A A 2011-2361:2012-1294-T g.chr21:11098891G>A uc002yit.1 - 1 BAGE_uc002yix.2_RNA NM_182482 NP_872288 NF2 4771 broad.mit.edu 37 22 30032864 30032864 + Missense_Mutation SNP A G G 2011-2361:2012-1294-T g.chr22:30032864A>G uc003age.3 + 2 682 c.239A>G c.(238-240)AAG>AGG p.K80R NF2_uc003afy.3_Missense_Mutation_p.K80R|NF2_uc003afz.3_Intron|NF2_uc003agf.3_Missense_Mutation_p.K80R|NF2_uc003agb.3_5'UTR|NF2_uc003agc.3_Missense_Mutation_p.K42R|NF2_uc003agd.3_Intron|NF2_uc003agg.3_Missense_Mutation_p.K80R|NF2_uc003aga.3_Intron|NF2_uc003agh.3_Missense_Mutation_p.K80R|NF2_uc003agi.3_Intron|NF2_uc003agj.3_Missense_Mutation_p.K80R|NF2_uc003agk.3_Missense_Mutation_p.K42R NM_000268 NP_000259 XPC 7508 broad.mit.edu 37 3 14220135 14220135 + 5'UTR SNP C A A 2011-2361:2012-1294-T g.chr3:14220135C>A uc011ave.1 - 1 XPC_uc011avf.1_5'UTR|XPC_uc011avg.1_5'UTR|LSM3_uc003byn.2_5'Flank NM_004628 NP_004619 MYD88 4615 broad.mit.edu 37 3 38179998 38179998 + 5'UTR SNP A G G 2011-2361:2012-1294-T g.chr3:38179998A>G uc003chx.2 + 1 ACAA1_uc003cht.2_5'Flank|ACAA1_uc003chu.2_5'Flank|ACAA1_uc010hgy.2_5'Flank|ACAA1_uc010hgz.2_5'Flank|ACAA1_uc003chv.2_5'Flank|MYD88_uc011ayh.1_5'UTR|MYD88_uc011ayi.1_5'UTR|MYD88_uc011ayj.1_5'UTR|MYD88_uc011ayk.1_5'UTR|MYD88_uc011ayl.1_5'UTR NM_002468 NP_002459 DPPA4 55211 broad.mit.edu 37 3 109050546 109050546 + Intron SNP A G G 2011-2361:2012-1294-T g.chr3:109050546A>G uc003dxq.3 - DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Intron NM_018189 NP_060659 MECOM 2122 broad.mit.edu 37 3 168830715 168830715 + Intron SNP C G G 2011-2361:2012-1294-T g.chr3:168830715C>G uc003ffi.3 - MECOM_uc010hwk.1_Intron|MECOM_uc003ffj.3_Intron|MECOM_uc011bpi.1_Intron|MECOM_uc003ffn.3_Intron|MECOM_uc003ffk.2_Intron|MECOM_uc003ffl.2_Intron|MECOM_uc011bpj.1_Intron|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Intron NM_005241 NP_005232 SORCS2 57537 broad.mit.edu 37 4 7708146 7708146 + Intron SNP G A A 2011-2361:2012-1294-T g.chr4:7708146G>A uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 NKAPL 222698 broad.mit.edu 37 6 28227501 28227501 + Missense_Mutation SNP C T T 2011-2361:2012-1294-T g.chr6:28227501C>T uc003nkt.2 + 1 404 c.352C>T c.(352-354)CGG>TGG p.R118W ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 HLA-G 3135 broad.mit.edu 37 6 29909611 29909611 + Intron SNP T C C 2011-2361:2012-1294-T g.chr6:29909611T>C uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'Flank|HLA-A_uc003nok.2_5'Flank|HLA-A_uc003nol.2_5'Flank|HLA-A_uc003non.2_5'Flank|HLA-A_uc003noo.2_5'Flank|HLA-A_uc010jrr.2_5'Flank|HLA-A_uc003nom.2_5'Flank|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank NM_002127 NP_002118 VARS 7407 broad.mit.edu 37 6 31748302 31748302 + Silent SNP G A A 2011-2361:2012-1294-T g.chr6:31748302G>A uc003nxe.2 - 25 3264 c.2841C>T c.(2839-2841)CGC>CGT p.R947R VARS_uc003nxf.1_5'Flank NM_006295 NP_006286 EIF2AK1 27102 broad.mit.edu 37 7 6084310 6084310 + Intron SNP G T T rs511969 by1000genomes 2011-2361:2012-1294-T g.chr7:6084310G>T uc003spp.2 - EIF2AK1_uc003spq.2_Intron|EIF2AK1_uc011jwm.1_Intron|EIF2AK1_uc003spr.1_Intron NM_014413 NP_055228 ADAM18 8749 broad.mit.edu 37 8 39494774 39494774 + Intron SNP C G G 2011-2361:2012-1294-T g.chr8:39494774C>G uc003xni.2 + ADAM18_uc010lww.2_Intron|ADAM18_uc010lwx.2_Intron NM_014237 NP_055052 CSMD3 114788 broad.mit.edu 37 8 113649221 113649221 + Silent SNP T C C 2011-2361:2012-1294-T g.chr8:113649221T>C uc003ynu.2 - 22 3699 c.3540A>G c.(3538-3540)GAA>GAG p.E1180E CSMD3_uc003yns.2_Silent_p.E452E|CSMD3_uc003ynt.2_Silent_p.E1140E|CSMD3_uc011lhx.1_Silent_p.E1076E NM_198123 NP_937756 ZFP41 286128 broad.mit.edu 37 8 144342202 144342202 + 3'UTR SNP G C C 2011-2361:2012-1294-T g.chr8:144342202G>C uc003yxw.2 + 3 ZFP41_uc003yxv.2_Intron NM_173832 NP_776193 ITIH5 80760 broad.mit.edu 37 10 7671265 7671265 + Intron SNP T C C 2011-2362:2012-363-T g.chr10:7671265T>C uc001ijq.2 - ITIH5_uc001ijr.1_Intron NM_030569 NP_085046 BRSK2 9024 broad.mit.edu 37 11 1415151 1415151 + Intron SNP A C C 2011-2362:2012-363-T g.chr11:1415151A>C uc001lti.2 + BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001ltj.2_Intron|BRSK2_uc001ltk.2_Intron|BRSK2_uc001ltl.2_Intron NM_003957 NP_003948 RIMBP2 23504 broad.mit.edu 37 12 131024585 131024585 + Intron SNP C G G 2011-2362:2012-363-T g.chr12:131024585C>G uc001uim.2 - MAPK8IP3 23162 broad.mit.edu 37 16 1789139 1789139 + Intron SNP G A A 2011-2362:2012-363-T g.chr16:1789139G>A uc002cmk.2 + MAPK8IP3_uc002cmi.1_Intron|MAPK8IP3_uc002cmj.1_Intron|MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Intron NM_015133 NP_055948 MAPK8IP3 23162 broad.mit.edu 37 16 1789189 1789189 + Intron SNP G A A 2011-2362:2012-363-T g.chr16:1789189G>A uc002cmk.2 + MAPK8IP3_uc002cmi.1_Intron|MAPK8IP3_uc002cmj.1_Intron|MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Intron NM_015133 NP_055948 NUBP1 4682 broad.mit.edu 37 16 10858622 10858622 + Intron SNP G A A rs2719650 2011-2362:2012-363-T g.chr16:10858622G>A uc002daa.1 + FAM18A_uc010uyr.1_Intron|FAM18A_uc010uys.1_Intron|FAM18A_uc010uyt.1_Intron|FAM18A_uc010bun.2_Intron|FAM18A_uc010uyu.1_Intron|FAM18A_uc002dad.3_Intron|NUBP1_uc002dab.1_Intron NM_002484 NP_002475 ANKRD11 29123 broad.mit.edu 37 16 89372298 89372298 + Intron SNP G A A rs76289802 by1000genomes 2011-2362:2012-363-T g.chr16:89372298G>A uc002fmx.1 - ANKRD11_uc002fmy.1_Intron|ANKRD11_uc002fnc.1_Intron|ANKRD11_uc002fnd.2_Intron|ANKRD11_uc002fne.2_Intron|ANKRD11_uc002fng.1_Intron|ANKRD11_uc002fnf.1_Intron NM_013275 NP_037407 ABR 29 broad.mit.edu 37 17 1022527 1022527 + Intron SNP C A A rs71935691 2011-2362:2012-363-T g.chr17:1022527C>A uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 HCN2 610 broad.mit.edu 37 19 602354 602354 + Intron SNP T C C rs77265994 2011-2362:2012-363-T g.chr19:602354T>C uc002lpe.2 + NM_001194 NP_001185 MED16 10025 broad.mit.edu 37 19 877894 877894 + Intron SNP C T T rs60839977 2011-2362:2012-363-T g.chr19:877894C>T uc002lqd.1 - MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Intron|MED16_uc002lqf.2_Intron|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron NM_005481 NP_005472 PEG3 5178 broad.mit.edu 37 19 57325584 57325584 + Missense_Mutation SNP G T T 2011-2362:2012-363-T g.chr19:57325584G>T uc002qnu.2 - 7 4577 c.4226C>A c.(4225-4227)GCT>GAT p.A1409D ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.A1380D|PEG3_uc002qnv.2_Missense_Mutation_p.A1409D|PEG3_uc002qnw.2_Missense_Mutation_p.A1285D|PEG3_uc002qnx.2_Missense_Mutation_p.A1283D|PEG3_uc010etr.2_Missense_Mutation_p.A1409D NM_001146186 NP_001139658 INPP4A 3631 broad.mit.edu 37 2 99181196 99181196 + Missense_Mutation SNP G T T 2011-2362:2012-363-T g.chr2:99181196G>T uc002syy.2 + 20 2530 c.2137G>T c.(2137-2139)GCC>TCC p.A713S INPP4A_uc010yvj.1_Missense_Mutation_p.A674S|INPP4A_uc010yvk.1_Missense_Mutation_p.A674S|INPP4A_uc002syx.2_Missense_Mutation_p.A708S|INPP4A_uc010fik.2_Intron NM_001134224 NP_001127696 TTN 7273 broad.mit.edu 37 2 179664219 179664219 + Silent SNP C T T 2011-2362:2012-363-T g.chr2:179664219C>T uc002und.2 - 6 1134 c.909G>A c.(907-909)CCG>CCA p.P303P TTN_uc010zfg.1_Silent_p.P303P|TTN_uc010zfh.1_Silent_p.P303P|TTN_uc010zfi.1_Silent_p.P303P|TTN_uc010zfj.1_Silent_p.P303P|TTN_uc002unb.2_Silent_p.P303P FANCD2 2177 broad.mit.edu 37 3 10108862 10108862 + Intron SNP G A A rs112179204 2011-2362:2012-363-T g.chr3:10108862G>A uc003buw.2 + FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron NM_033084 NP_149075 SI 6476 broad.mit.edu 37 3 164755642 164755642 + Intron SNP G T T 2011-2362:2012-363-T g.chr3:164755642G>T uc003fei.2 - NM_001041 NP_001032 NRG2 9542 broad.mit.edu 37 5 139422644 139422644 + Missense_Mutation SNP A C C 2011-2362:2012-363-T g.chr5:139422644A>C uc003lex.1 - 1 236 c.11T>G c.(10-12)GTT>GGT p.V4G NRG2_uc003lev.1_Missense_Mutation_p.V4G|NRG2_uc003lew.1_Missense_Mutation_p.V4G|NRG2_uc003ley.1_Missense_Mutation_p.V4G NM_004883 NP_004874 PCDHA8 56140 broad.mit.edu 37 5 140221967 140221967 + Missense_Mutation SNP C T T 2011-2362:2012-363-T g.chr5:140221967C>T uc003lhs.2 + 1 1061 c.1061C>T c.(1060-1062)TCC>TTC p.S354F PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.S354F NM_018911 NP_061734 TAP2 6891 broad.mit.edu 37 6 32802939 32802939 + Missense_Mutation SNP G A A rs140532996 byFrequency 2011-2362:2012-363-T g.chr6:32802939G>A uc003occ.2 - 4 968 c.937C>T c.(937-939)CGC>TGC p.R313C TAP2_uc011dqf.1_Missense_Mutation_p.R313C|TAP2_uc003ocb.1_Missense_Mutation_p.R313C|TAP2_uc003ocd.2_Missense_Mutation_p.R313C NM_018833 NP_061313 HBS1L 10767 broad.mit.edu 37 6 135358567 135358567 + Intron SNP T G G rs7742542 by1000genomes 2011-2362:2012-363-T g.chr6:135358567T>G uc003qez.2 - HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Intron|HBS1L_uc011eda.1_Intron|HBS1L_uc003qfa.2_Missense_Mutation_p.E343A NM_006620 NP_006611 SYNE1 23345 broad.mit.edu 37 6 152630946 152630946 + Intron SNP C T T rs12662994 by1000genomes 2011-2362:2012-363-T g.chr6:152630946C>T uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron NM_182961 NP_892006 ADAP1 11033 broad.mit.edu 37 7 982813 982813 + Intron SNP T G G 2011-2362:2012-363-T g.chr7:982813T>G uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ERICH1 157697 broad.mit.edu 37 8 580672 580672 + Intron SNP T A A 2011-2362:2012-363-T g.chr8:580672T>A uc011kwh.1 - ERICH1_uc003wpe.1_Intron NM_207332 NP_997215 CSMD3 114788 broad.mit.edu 37 8 114186000 114186000 + Silent SNP G T T 2011-2362:2012-363-T g.chr8:114186000G>T uc003ynu.2 - 4 819 c.660C>A c.(658-660)GCC>GCA p.A220A CSMD3_uc003ynt.2_Silent_p.A180A|CSMD3_uc011lhx.1_Silent_p.A220A|CSMD3_uc010mcx.1_Silent_p.A220A NM_198123 NP_937756 CSF2RA 1438 broad.mit.edu 37 X 1412738 1412738 + Intron SNP G A A 2011-2362:2012-363-T g.chrX:1412738G>A uc010nct.2 + CSF2RA_uc011mhb.1_Intron|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Intron|CSF2RA_uc004cpo.2_Intron|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Intron|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_Intron|CSF2RA_uc004cpr.2_Intron NM_001161529 NP_001155001 CROCC 9696 broad.mit.edu 37 1 17185619 17185619 + Intron SNP T G G 2011-2366:2012-1295-T g.chr1:17185619T>G uc009voy.1 + COL11A1 1301 broad.mit.edu 37 1 103348841 103348841 + Missense_Mutation SNP C G G 2011-2366:2012-1295-T g.chr1:103348841C>G uc001dul.2 - 64 5203 c.4885G>C c.(4885-4887)GGT>CGT p.G1629R COL11A1_uc001duk.2_Missense_Mutation_p.G825R|COL11A1_uc001dum.2_Missense_Mutation_p.G1641R|COL11A1_uc001dun.2_Missense_Mutation_p.G1590R|COL11A1_uc009weh.2_Missense_Mutation_p.G1513R NM_001854 NP_001845 SPAG17 200162 broad.mit.edu 37 1 118579490 118579490 + Missense_Mutation SNP C A A 2011-2366:2012-1295-T g.chr1:118579490C>A uc001ehk.2 - 24 3404 c.3336G>T c.(3334-3336)AAG>AAT p.K1112N NM_206996 NP_996879 FLG 2312 broad.mit.edu 37 1 152286590 152286590 + Missense_Mutation SNP C G G 2011-2366:2012-1295-T g.chr1:152286590C>G uc001ezu.1 - 3 808 c.772G>C c.(772-774)GAA>CAA p.E258Q uc001ezv.2_Intron NM_002016 NP_002007 MAP3K8 1326 broad.mit.edu 37 10 30726200 30726200 + 5'UTR SNP G A A 2011-2366:2012-1295-T g.chr10:30726200G>A uc001ivi.1 + 2 MAP3K8_uc009xlf.1_Intron|MAP3K8_uc001ivj.1_5'Flank NM_005204 NP_005195 PCDH15 65217 broad.mit.edu 37 10 55566578 55566578 + Missense_Mutation SNP C T T 2011-2366:2012-1295-T g.chr10:55566578C>T uc010qhq.1 - 36 5205 c.4810G>A c.(4810-4812)GAA>AAA p.E1604K PCDH15_uc010qhr.1_Missense_Mutation_p.E1599K NM_001142771 NP_001136243 GRK5 2869 broad.mit.edu 37 10 121187025 121187025 + Intron SNP C T T 2011-2366:2012-1295-T g.chr10:121187025C>T uc001led.2 + GRK5_uc009xzh.2_Intron|GRK5_uc010qta.1_Intron NM_005308 NP_005299 PHRF1 57661 broad.mit.edu 37 11 585486 585486 + Intron SNP C A A 2011-2366:2012-1295-T g.chr11:585486C>A uc001lqe.2 + PHRF1_uc010qwc.1_Intron|PHRF1_uc010qwd.1_Intron|PHRF1_uc010qwe.1_Intron NM_020901 NP_065952 OR4C15 81309 broad.mit.edu 37 11 55322205 55322205 + Silent SNP G A A 2011-2366:2012-1295-T g.chr11:55322205G>A uc010rig.1 + 1 423 c.423G>A c.(421-423)GTG>GTA p.V141V NM_001001920 NP_001001920 INCENP 3619 broad.mit.edu 37 11 61914283 61914283 + Missense_Mutation SNP C G G 2011-2366:2012-1295-T g.chr11:61914283C>G uc001nsw.1 + 15 2315 c.2113C>G c.(2113-2115)CAG>GAG p.Q705E INCENP_uc009ynw.1_Missense_Mutation_p.Q709E|INCENP_uc001nsx.1_Missense_Mutation_p.Q701E|INCENP_uc001nsy.1_Missense_Mutation_p.Q119E NM_001040694 NP_001035784 AHNAK 79026 broad.mit.edu 37 11 62295814 62295814 + Silent SNP G A A 2011-2366:2012-1295-T g.chr11:62295814G>A uc001ntl.2 - 5 6375 c.6075C>T c.(6073-6075)ATC>ATT p.I2025I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 KDM5A 5927 broad.mit.edu 37 12 438039 438039 + Missense_Mutation SNP C T T 2011-2366:2012-1295-T g.chr12:438039C>T uc001qif.1 - 14 2293 c.1930G>A c.(1930-1932)GAA>AAA p.E644K KDM5A_uc001qie.1_Missense_Mutation_p.E644K|KDM5A_uc010sdn.1_Missense_Mutation_p.E603K|KDM5A_uc010sdo.1_Missense_Mutation_p.E263K NM_001042603 NP_001036068 EPS8 2059 broad.mit.edu 37 12 15803736 15803736 + Intron SNP C A A 2011-2366:2012-1295-T g.chr12:15803736C>A uc009zif.2 - EPS8_uc001rdb.2_Intron|EPS8_uc009zig.2_Intron|EPS8_uc010shv.1_Intron NM_004447 NP_004438 PDE3A 5139 broad.mit.edu 37 12 20790066 20790066 + Silent SNP C T T 2011-2366:2012-1295-T g.chr12:20790066C>T uc001reh.1 + 9 2056 c.2034C>T c.(2032-2034)GTC>GTT p.V678V NM_000921 NP_000912 MLL2 8085 broad.mit.edu 37 12 49422750 49422750 + Intron SNP G A A 2011-2366:2012-1295-T g.chr12:49422750G>A uc001rta.3 - NM_003482 NP_003473 NACA 4666 broad.mit.edu 37 12 57119154 57119154 + 5'Flank SNP G A A 2011-2366:2012-1295-T g.chr12:57119154G>A uc001slz.2 - NACA_uc001sly.2_5'Flank|NACA_uc009zoy.1_5'UTR|NACA_uc001smc.2_5'UTR|NACA_uc001sma.2_5'UTR|NACA_uc001smb.2_5'UTR|NACA_uc010squ.1_RNA NM_001113201 NP_001106672 RB1 5925 broad.mit.edu 37 13 49027168 49027168 + Nonsense_Mutation SNP C T T rs121913305 2011-2366:2012-1295-T g.chr13:49027168C>T uc001vcb.2 + 18 1901 c.1735C>T c.(1735-1737)CGA>TGA p.R579* NM_000321 NP_000312 GPC5 2262 broad.mit.edu 37 13 93518546 93518546 + Missense_Mutation SNP G A A 2011-2366:2012-1295-T g.chr13:93518546G>A uc010tif.1 + 8 1939 c.1573G>A c.(1573-1575)GAT>AAT p.D525N NM_004466 NP_004457 MYH1 4619 broad.mit.edu 37 17 10411121 10411121 + Intron SNP T G G 2011-2366:2012-1295-T g.chr17:10411121T>G uc002gmo.2 - uc002gml.1_Intron NM_005963 NP_005954 NF1 4763 broad.mit.edu 37 17 29580071 29580071 + Intron SNP C G G 2011-2366:2012-1295-T g.chr17:29580071C>G uc002hgg.2 + NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron NM_001042492 NP_001035957 BRCA1 672 broad.mit.edu 37 17 41197556 41197556 + 3'UTR SNP C T T 2011-2366:2012-1295-T g.chr17:41197556C>T uc002icq.2 - 23 BRCA1_uc010whp.1_3'UTR|BRCA1_uc010whl.1_3'UTR|BRCA1_uc010whm.1_3'UTR|BRCA1_uc002icp.3_3'UTR|BRCA1_uc002icu.2_3'UTR|BRCA1_uc010cyx.2_3'UTR|BRCA1_uc002ict.2_3'UTR|BRCA1_uc010whn.1_3'UTR|BRCA1_uc010who.1_3'UTR NM_007294 NP_009225 BRIP1 83990 broad.mit.edu 37 17 59876352 59876352 + Intron SNP C T T rs2191248 by1000genomes 2011-2366:2012-1295-T g.chr17:59876352C>T uc002izk.1 - NM_032043 NP_114432 NOTCH3 4854 broad.mit.edu 37 19 15292088 15292088 + Intron SNP G C C rs7257550 by1000genomes 2011-2366:2012-1295-T g.chr19:15292088G>C uc002nan.2 - NOTCH3_uc002nao.1_Intron NM_000435 NP_000426 NLRP4 147945 broad.mit.edu 37 19 56370478 56370478 + Silent SNP C G G rs150474101 2011-2366:2012-1295-T g.chr19:56370478C>G uc002qmd.3 + 3 2141 c.1719C>G c.(1717-1719)CTC>CTG p.L573L NLRP4_uc002qmf.2_Silent_p.L498L|NLRP4_uc010etf.2_Silent_p.L404L NM_134444 NP_604393 LRP1B 53353 broad.mit.edu 37 2 141116274 141116274 + Intron SNP G T T 2011-2366:2012-1295-T g.chr2:141116274G>T uc002tvj.1 - NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141264183 141264183 + Intron SNP A C C 2011-2366:2012-1295-T g.chr2:141264183A>C uc002tvj.1 - NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141474438 141474438 + Intron SNP C G G 2011-2366:2012-1295-T g.chr2:141474438C>G uc002tvj.1 - NM_018557 NP_061027 ZEB2 9839 broad.mit.edu 37 2 145162612 145162612 + Intron SNP G C C 2011-2366:2012-1295-T g.chr2:145162612G>C uc002tvu.2 - ZEB2_uc002tvv.2_Intron|ZEB2_uc010zbm.1_Intron|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Intron NM_014795 NP_055610 TTN 7273 broad.mit.edu 37 2 179395624 179395624 + Missense_Mutation SNP G A A 2011-2366:2012-1295-T g.chr2:179395624G>A uc010zfg.1 - 307 98238 c.98014C>T c.(98014-98016)CGG>TGG p.R32672W uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R26367W|TTN_uc010zfi.1_Missense_Mutation_p.R26300W|TTN_uc010zfj.1_Missense_Mutation_p.R26175W|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179446869 179446869 + Nonsense_Mutation SNP C T T 2011-2366:2012-1295-T g.chr2:179446869C>T uc010zfg.1 - 264 58747 c.58523G>A c.(58522-58524)TGG>TAG p.W19508* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.W13203*|TTN_uc010zfi.1_Nonsense_Mutation_p.W13136*|TTN_uc010zfj.1_Nonsense_Mutation_p.W13011* NM_133378 NP_596869 CASP8 841 broad.mit.edu 37 2 202151163 202151163 + Intron SNP A G G rs3769818 by1000genomes 2011-2366:2012-1295-T g.chr2:202151163A>G uc002uxr.1 + CASP8_uc002uxp.1_Intron|CASP8_uc002uxq.1_Intron|CASP8_uc002uxt.1_Intron|CASP8_uc002uxu.1_Intron|CASP8_uc002uxw.1_Intron|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Intron NM_033355 NP_203519 C20orf26 26074 broad.mit.edu 37 20 20337725 20337725 + Intron SNP A G G 2011-2366:2012-1295-T g.chr20:20337725A>G uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 RIPK4 54101 broad.mit.edu 37 21 43161767 43161767 + Missense_Mutation SNP G A A 2011-2366:2012-1295-T g.chr21:43161767G>A uc002yzn.1 - 8 1634 c.1586C>T c.(1585-1587)TCG>TTG p.S529L NM_020639 NP_065690 EP300 2033 broad.mit.edu 37 22 41488467 41488467 + 5'Flank SNP G A A 2011-2366:2012-1295-T g.chr22:41488467G>A uc003azl.3 + MIR1281_hsa-mir-1281|MI0006428_5'Flank NM_001429 NP_001420 CNTN6 27255 broad.mit.edu 37 3 1371544 1371544 + Missense_Mutation SNP G A A 2011-2366:2012-1295-T g.chr3:1371544G>A uc003boz.2 + 11 1556 c.1289G>A c.(1288-1290)GGA>GAA p.G430E CNTN6_uc011asj.1_Missense_Mutation_p.G358E|CNTN6_uc003bpa.2_Missense_Mutation_p.G430E NM_014461 NP_055276 SLITRK3 22865 broad.mit.edu 37 3 164906966 164906966 + Missense_Mutation SNP C G G 2011-2366:2012-1295-T g.chr3:164906966C>G uc003fej.3 - 2 2097 c.1653G>C c.(1651-1653)TTG>TTC p.L551F SLITRK3_uc003fek.2_Missense_Mutation_p.L551F NM_014926 NP_055741 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 2011-2366:2012-1295-T g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 DGKG 1608 broad.mit.edu 37 3 186038371 186038371 + 5'UTR SNP C T T 2011-2366:2012-1295-T g.chr3:186038371C>T uc003fqa.2 - 2 DGKG_uc003fqb.2_5'UTR|DGKG_uc003fqc.2_5'UTR|DGKG_uc011brx.1_5'UTR NM_001346 NP_001337 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C G G rs121913483 2011-2366:2012-1295-T g.chr4:1803568C>G uc003gdr.3 + 7 1002 c.746C>G c.(745-747)TCC>TGC p.S249C FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C NM_000142 NP_000133 FGFR3 2261 broad.mit.edu 37 4 1806383 1806383 + Intron SNP C T T 2011-2366:2012-1295-T g.chr4:1806383C>T uc003gdr.3 + FGFR3_uc003gdu.2_Intron|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Intron NM_000142 NP_000133 FGFR3 2261 broad.mit.edu 37 4 1808058 1808058 + Intron SNP C G G 2011-2366:2012-1295-T g.chr4:1808058C>G uc003gdr.3 + FGFR3_uc003gdu.2_Intron|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Intron NM_000142 NP_000133 DSPP 1834 broad.mit.edu 37 4 88536368 88536368 + Missense_Mutation SNP G A A 2011-2366:2012-1295-T g.chr4:88536368G>A uc003hqu.2 + 5 2674 c.2554G>A c.(2554-2556)GAT>AAT p.D852N NM_014208 NP_055023 FAT1 2195 broad.mit.edu 37 4 187540515 187540515 + Missense_Mutation SNP C T T 2011-2366:2012-1295-T g.chr4:187540515C>T uc003izf.2 - 10 7413 c.7225G>A c.(7225-7227)GTG>ATG p.V2409M NM_005245 NP_005236 CDH10 1008 broad.mit.edu 37 5 24645166 24645166 + 5'Flank SNP C G G 2011-2366:2012-1295-T g.chr5:24645166C>G uc003jgr.1 - CDH10_uc011cnu.1_5'Flank NM_006727 NP_006718 ADAMTS12 81792 broad.mit.edu 37 5 33631048 33631048 + Intron SNP C A A 2011-2366:2012-1295-T g.chr5:33631048C>A uc003jia.1 - ADAMTS12_uc010iuq.1_Intron NM_030955 NP_112217 HLA-A 3105 broad.mit.edu 37 6 29911837 29911837 + Intron SNP G A A rs114615513 by1000genomes 2011-2366:2012-1295-T g.chr6:29911837G>A uc003nol.2 + HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Intron|HLA-A_uc003nok.2_Intron|HLA-A_uc003non.2_Intron|HLA-A_uc003noo.2_Intron|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_Intron|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_Intron|HLA-A_uc011dmd.1_Intron NM_002116 NP_002107 SYNE1 23345 broad.mit.edu 37 6 152489558 152489558 + Intron SNP G C C 2011-2366:2012-1295-T g.chr6:152489558G>C uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qop.3_Intron|SYNE1_uc011eez.1_Intron|SYNE1_uc003qoq.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 PMS2 5395 broad.mit.edu 37 7 6045673 6045673 + Intron SNP C T T 2011-2366:2012-1295-T g.chr7:6045673C>T uc003spl.2 - PMS2_uc003spj.2_5'Flank|PMS2_uc003spk.2_Intron|PMS2_uc011jwl.1_Intron|PMS2_uc010ktg.2_Intron|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Intron NM_000535 NP_000526 THSD7A 221981 broad.mit.edu 37 7 11581070 11581070 + Missense_Mutation SNP C T T 2011-2366:2012-1295-T g.chr7:11581070C>T uc003ssf.3 - 6 2050 c.1798G>A c.(1798-1800)GAG>AAG p.E600K NM_015204 NP_056019 VPS41 27072 broad.mit.edu 37 7 38791660 38791660 + Intron SNP C T T 2011-2366:2012-1295-T g.chr7:38791660C>T uc003tgy.2 - VPS41_uc003tgz.2_Intron|VPS41_uc010kxn.2_Intron NM_014396 NP_055211 WRN 7486 broad.mit.edu 37 8 30949417 30949417 + Intron SNP G C C 2011-2366:2012-1295-T g.chr8:30949417G>C uc003xio.3 + WRN_uc010lvk.2_Intron NM_000553 NP_000544 ZFHX4 79776 broad.mit.edu 37 8 77754950 77754950 + Missense_Mutation SNP G C C 2011-2366:2012-1295-T g.chr8:77754950G>C uc003yav.2 + 6 3736 c.3349G>C c.(3349-3351)GAA>CAA p.E1117Q ZFHX4_uc003yau.1_Missense_Mutation_p.E1152Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.E1117Q NM_024721 NP_078997 NECAB1 64168 broad.mit.edu 37 8 91803968 91803968 + 5'UTR SNP G C C 2011-2366:2012-1295-T g.chr8:91803968G>C uc011lgg.1 + 1 TMEM64_uc003yeo.2_5'Flank NM_022351 NP_071746 CSMD3 114788 broad.mit.edu 37 8 113347467 113347467 + Intron SNP C T T 2011-2366:2012-1295-T g.chr8:113347467C>T uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron|CSMD3_uc003ynw.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113650820 113650820 + Intron SNP C T T 2011-2366:2012-1295-T g.chr8:113650820C>T uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 ENPP2 5168 broad.mit.edu 37 8 120613725 120613725 + Intron SNP G A A 2011-2366:2012-1295-T g.chr8:120613725G>A uc003yot.1 - ENPP2_uc003yos.1_Intron|ENPP2_uc010mdd.1_Intron NM_001040092 NP_001035181 HUWE1 10075 broad.mit.edu 37 X 53613780 53613780 + Silent SNP G C C 2011-2366:2012-1295-T g.chrX:53613780G>C uc004dsp.2 - 38 5106 c.4704C>G c.(4702-4704)CTC>CTG p.L1568L HUWE1_uc004dsn.2_Silent_p.L393L NM_031407 NP_113584 HEPH 9843 broad.mit.edu 37 X 65390433 65390433 + Silent SNP C T T 2011-2366:2012-1295-T g.chrX:65390433C>T uc011moz.1 + 2 90 c.30C>T c.(28-30)CTC>CTT p.L10L HEPH_uc004dwn.2_Silent_p.L10L|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Silent_p.L10L|HEPH_uc011mpa.1_Silent_p.L10L NM_138737 NP_620074 ABCA4 24 broad.mit.edu 37 1 94586670 94586670 + 5'UTR SNP C T T 2011-2367:2012-1296-T g.chr1:94586670C>T uc001dqh.2 - 1 ABCA4_uc010otn.1_5'UTR NM_000350 NP_000341 PDE4DIP 9659 broad.mit.edu 37 1 144873949 144873949 + Nonsense_Mutation SNP C A A rs139225578 byFrequency 2011-2367:2012-1296-T g.chr1:144873949C>A uc001elw.3 - 31 5299 c.5008G>T c.(5008-5010)GAA>TAA p.E1670* NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Nonsense_Mutation_p.E1626*|PDE4DIP_uc001elv.3_Nonsense_Mutation_p.E677* NM_014644 NP_055459 ASH1L 55870 broad.mit.edu 37 1 155448715 155448715 + Missense_Mutation SNP G C C 2011-2367:2012-1296-T g.chr1:155448715G>C uc009wqq.2 - 3 4426 c.3946C>G c.(3946-3948)CTG>GTG p.L1316V ASH1L_uc001fkt.2_Missense_Mutation_p.L1316V|ASH1L_uc009wqr.1_Missense_Mutation_p.L1316V NM_018489 NP_060959 USH2A 7399 broad.mit.edu 37 1 215848453 215848453 + Missense_Mutation SNP G C C 2011-2367:2012-1296-T g.chr1:215848453G>C uc001hku.1 - 63 13187 c.12800C>G c.(12799-12801)TCT>TGT p.S4267C NM_206933 NP_996816 USH2A 7399 broad.mit.edu 37 1 216390624 216390624 + Intron SNP T C C 2011-2367:2012-1296-T g.chr1:216390624T>C uc001hku.1 - USH2A_uc001hkv.2_Intron NM_206933 NP_996816 MLL2 8085 broad.mit.edu 37 12 49435312 49435312 + Missense_Mutation SNP C G G 2011-2367:2012-1296-T g.chr12:49435312C>G uc001rta.3 - 31 6241 c.6241G>C c.(6241-6243)GAG>CAG p.E2081Q NM_003482 NP_003473 MLL2 8085 broad.mit.edu 37 12 49446723 49446723 + Missense_Mutation SNP C G G 2011-2367:2012-1296-T g.chr12:49446723C>G uc001rta.3 - 8 1087 c.1087G>C c.(1087-1089)GAG>CAG p.E363Q NM_003482 NP_003473 LRFN5 145581 broad.mit.edu 37 14 42356123 42356123 + Nonsense_Mutation SNP C T T 2011-2367:2012-1296-T g.chr14:42356123C>T uc001wvm.2 + 3 1493 c.295C>T c.(295-297)CGA>TGA p.R99* LRFN5_uc010ana.2_Nonsense_Mutation_p.R99* NM_152447 NP_689660 DICER1 23405 broad.mit.edu 37 14 95573948 95573948 + Missense_Mutation SNP G T T 2011-2367:2012-1296-T g.chr14:95573948G>T uc001ydw.2 - 18 2983 c.2801C>A c.(2800-2802)CCA>CAA p.P934Q DICER1_uc010avh.1_5'Flank|DICER1_uc001ydv.2_Missense_Mutation_p.P924Q|DICER1_uc001ydx.2_Missense_Mutation_p.P934Q NM_030621 NP_085124 TP53 7157 broad.mit.edu 37 17 7577141 7577141 + Missense_Mutation SNP C T T 2011-2367:2012-1296-T g.chr17:7577141C>T uc002gim.2 - 8 991 c.797G>A c.(796-798)GGA>GAA p.G266E TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.G266E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G134E|TP53_uc010cng.1_Missense_Mutation_p.G134E|TP53_uc002gii.1_Missense_Mutation_p.G134E|TP53_uc010cnh.1_Missense_Mutation_p.G266E|TP53_uc010cni.1_Missense_Mutation_p.G266E|TP53_uc002gij.2_Missense_Mutation_p.G266E NM_001126112 NP_001119584 DOK6 220164 broad.mit.edu 37 18 67406278 67406278 + Missense_Mutation SNP C T T rs150709681 2011-2367:2012-1296-T g.chr18:67406278C>T uc002lkl.2 + 6 867 c.677C>T c.(676-678)GCG>GTG p.A226V NM_152721 NP_689934 FZR1 51343 broad.mit.edu 37 19 3529202 3529202 + Intron SNP G A A 2011-2367:2012-1296-T g.chr19:3529202G>A uc010dtk.2 + FZR1_uc002lxt.2_Intron|FZR1_uc002lxv.2_Intron NM_001136198 NP_001129670 ZNF331 55422 broad.mit.edu 37 19 54042441 54042441 + Intron SNP T G G 2011-2367:2012-1296-T g.chr19:54042441T>G uc002qbx.1 + ZNF331_uc002qby.1_Intron|ZNF331_uc002qbz.1_Intron|ZNF331_uc002qca.1_Intron|ZNF331_uc010eqr.1_Intron|ZNF331_uc002qcb.1_Intron NM_018555 NP_061025 RMND5A 64795 broad.mit.edu 37 2 87634113 87634113 + Intron SNP C A A 2011-2367:2012-1296-T g.chr2:87634113C>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87641985 87641985 + Intron SNP C T T 2011-2367:2012-1296-T g.chr2:87641985C>T uc002srs.3 + LRP1B 53353 broad.mit.edu 37 2 141707766 141707766 + Intron SNP T A A 2011-2367:2012-1296-T g.chr2:141707766T>A uc002tvj.1 - LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 NFE2L2 4780 broad.mit.edu 37 2 178130292 178130292 + 5'Flank SNP C G G 2011-2367:2012-1296-T g.chr2:178130292C>G uc002ulh.3 - NFE2L2_uc002ulg.3_5'Flank|NFE2L2_uc010zfa.1_5'Flank|NFE2L2_uc002uli.3_Intron|NFE2L2_uc010fra.2_5'Flank|NFE2L2_uc010frb.2_5'Flank NM_006164 NP_006155 CASP8 841 broad.mit.edu 37 2 202105661 202105661 + Intron SNP A G G 2011-2367:2012-1296-T g.chr2:202105661A>G uc002uxr.1 + CASP8_uc010ftc.1_Intron|CASP8_uc002uxo.1_Intron|CASP8_uc002uxp.1_Intron|CASP8_uc002uxq.1_Intron|CASP8_uc002uxn.2_RNA NM_033355 NP_203519 MAP2 4133 broad.mit.edu 37 2 210557558 210557558 + Missense_Mutation SNP C G G 2011-2367:2012-1296-T g.chr2:210557558C>G uc002vde.1 + 7 912 c.664C>G c.(664-666)CCC>GCC p.P222A MAP2_uc002vdc.1_Missense_Mutation_p.P222A|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.P218A NM_002374 NP_002365 PAX3 5077 broad.mit.edu 37 2 223160203 223160203 + Intron SNP C A A 2011-2367:2012-1296-T g.chr2:223160203C>A uc010fwo.2 - PAX3_uc002vmt.1_Intron|PAX3_uc002vmy.1_Intron|PAX3_uc002vmv.1_Intron|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron|PAX3_uc002vmz.1_Intron|PAX3_uc002vna.1_Intron|CCDC140_uc002vnb.1_5'Flank NM_181457 NP_852122 XRCC6 2547 broad.mit.edu 37 22 42052998 42052998 + Silent SNP G A A rs147467039 byFrequency 2011-2367:2012-1296-T g.chr22:42052998G>A uc003bao.1 + 10 1453 c.1383G>A c.(1381-1383)AAG>AAA p.K461K XRCC6_uc003bap.1_Silent_p.K420K|XRCC6_uc011apc.1_Silent_p.K411K|XRCC6_uc003baq.1_Silent_p.K461K|XRCC6_uc003bar.1_Silent_p.K461K|XRCC6_uc003bas.1_Silent_p.K411K NM_001469 NP_001460 SI 6476 broad.mit.edu 37 3 164760819 164760819 + Intron SNP C T T rs148598122 by1000genomes 2011-2367:2012-1296-T g.chr3:164760819C>T uc003fei.2 - NM_001041 NP_001032 PCYT1A 5130 broad.mit.edu 37 3 195976967 195976967 + Intron SNP T A A 2011-2367:2012-1296-T g.chr3:195976967T>A uc003fwg.2 - PCYT1A_uc003fwh.2_Intron NM_005017 NP_005008 ANKRD17 26057 broad.mit.edu 37 4 73951152 73951152 + Missense_Mutation SNP T C C 2011-2367:2012-1296-T g.chr4:73951152T>C uc003hgp.2 - 30 7090 c.6973A>G c.(6973-6975)ATG>GTG p.M2325V ANKRD17_uc003hgo.2_Missense_Mutation_p.M2212V|ANKRD17_uc003hgq.2_Missense_Mutation_p.M2074V|ANKRD17_uc003hgr.2_Missense_Mutation_p.M2324V NM_032217 NP_115593 ANKRD17 26057 broad.mit.edu 37 4 74007906 74007906 + Intron SNP G C C 2011-2367:2012-1296-T g.chr4:74007906G>C uc003hgp.2 - ANKRD17_uc003hgo.2_Intron|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Intron|ANKRD17_uc011cbd.1_Intron NM_032217 NP_115593 CDH9 1007 broad.mit.edu 37 5 26890473 26890473 + Intron SNP G T T 2011-2367:2012-1296-T g.chr5:26890473G>T uc003jgs.1 - CDH9_uc011cnv.1_Intron NM_016279 NP_057363 FAT2 2196 broad.mit.edu 37 5 150947518 150947518 + Nonsense_Mutation SNP G T T 2011-2367:2012-1296-T g.chr5:150947518G>T uc003lue.3 - 1 988 c.975C>A c.(973-975)TAC>TAA p.Y325* GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Nonsense_Mutation_p.Y325* NM_001447 NP_001438 CARD11 84433 broad.mit.edu 37 7 2979433 2979433 + Missense_Mutation SNP C G G 2011-2367:2012-1296-T g.chr7:2979433C>G uc003smv.2 - 6 1218 c.814G>C c.(814-816)GAG>CAG p.E272Q NM_032415 NP_115791 CARD11 84433 broad.mit.edu 37 7 2979563 2979563 + Splice_Site SNP C G G 2011-2367:2012-1296-T g.chr7:2979563C>G uc003smv.2 - 6 1089 c.685_splice c.e6-1 p.I229_splice NM_032415 NP_115791 PTPRN2 5799 broad.mit.edu 37 7 158295535 158295535 + Intron SNP G A A 2011-2367:2012-1296-T g.chr7:158295535G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 WRN 7486 broad.mit.edu 37 8 30982481 30982481 + Missense_Mutation SNP G T T 2011-2367:2012-1296-T g.chr8:30982481G>T uc003xio.3 + 23 3578 c.2790G>T c.(2788-2790)ATG>ATT p.M930I WRN_uc010lvk.2_Missense_Mutation_p.M397I NM_000553 NP_000544 NKAIN3 286183 broad.mit.edu 37 8 63776780 63776780 + Intron SNP G A A 2011-2367:2012-1296-T g.chr8:63776780G>A uc010lyq.1 + NM_173688 NP_775959 CSMD3 114788 broad.mit.edu 37 8 113323198 113323198 + Intron SNP A G G 2011-2367:2012-1296-T g.chr8:113323198A>G uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron|CSMD3_uc003ynw.1_Missense_Mutation_p.Y343H NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113599294 113599294 + Splice_Site SNP C G G 2011-2367:2012-1296-T g.chr8:113599294C>G uc003ynu.2 - 23 4044 c.3885_splice c.e23+1 p.K1295_splice CSMD3_uc003yns.2_Splice_Site_p.K567_splice|CSMD3_uc003ynt.2_Splice_Site_p.K1255_splice|CSMD3_uc011lhx.1_Splice_Site_p.K1191_splice NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113657468 113657468 + Intron SNP A G G 2011-2367:2012-1296-T g.chr8:113657468A>G uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113697895 113697895 + Missense_Mutation SNP T C C 2011-2367:2012-1296-T g.chr8:113697895T>C uc003ynu.2 - 15 2381 c.2222A>G c.(2221-2223)TAT>TGT p.Y741C CSMD3_uc003yns.2_Missense_Mutation_p.Y13C|CSMD3_uc003ynt.2_Missense_Mutation_p.Y701C|CSMD3_uc011lhx.1_Missense_Mutation_p.Y637C NM_198123 NP_937756 HUWE1 10075 broad.mit.edu 37 X 53562379 53562379 + Missense_Mutation SNP C A A 2011-2367:2012-1296-T g.chrX:53562379C>A uc004dsp.2 - 81 13017 c.12615G>T c.(12613-12615)GAG>GAT p.E4205D HUWE1_uc004dsn.2_Missense_Mutation_p.E3013D NM_031407 NP_113584 NBPF1 55672 broad.mit.edu 37 1 16907863 16907863 + Intron SNP G C C 2011-2368:2012-1297-T g.chr1:16907863G>C uc009vos.1 - NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Intron NM_017940 NP_060410 MACF1 23499 broad.mit.edu 37 1 39917959 39917959 + Silent SNP C T T 2011-2368:2012-1297-T g.chr1:39917959C>T uc010oiu.1 + 51 16010 c.15879C>T c.(15877-15879)CGC>CGT p.R5293R MACF1_uc010ois.1_Silent_p.R4791R NM_033044 NP_149033 PDE4DIP 9659 broad.mit.edu 37 1 144995108 144995108 + 5'Flank SNP G A A 2011-2368:2012-1297-T g.chr1:144995108G>A uc001elw.3 - NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_5'Flank|PDE4DIP_uc001ell.1_5'Flank|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001emc.1_5'Flank|PDE4DIP_uc001emd.1_5'Flank|PDE4DIP_uc001emg.1_5'Flank|PDE4DIP_uc001emh.2_Intron NM_014644 NP_055459 FLG 2312 broad.mit.edu 37 1 152275898 152275898 + Missense_Mutation SNP C A A 2011-2368:2012-1297-T g.chr1:152275898C>A uc001ezu.1 - 3 11500 c.11464G>T c.(11464-11466)GGC>TGC p.G3822C NM_002016 NP_002007 SPTA1 6708 broad.mit.edu 37 1 158647558 158647558 + Silent SNP G T T 2011-2368:2012-1297-T g.chr1:158647558G>T uc001fst.1 - 7 1078 c.879C>A c.(877-879)GGC>GGA p.G293G NM_003126 NP_003117 FAM5B 57795 broad.mit.edu 37 1 177250595 177250595 + Silent SNP C G G 2011-2368:2012-1297-T g.chr1:177250595C>G uc001glf.2 + 8 2595 c.2283C>G c.(2281-2283)TCC>TCG p.S761S FAM5B_uc001glg.2_Silent_p.S656S NM_021165 NP_066988 ABL2 27 broad.mit.edu 37 1 179077581 179077581 + Missense_Mutation SNP G C C 2011-2368:2012-1297-T g.chr1:179077581G>C uc001gmj.3 - 12 3108 c.2821C>G c.(2821-2823)CAC>GAC p.H941D ABL2_uc010pnf.1_Missense_Mutation_p.H838D|ABL2_uc010png.1_Missense_Mutation_p.H817D|ABL2_uc010pnh.1_Missense_Mutation_p.H920D|ABL2_uc001gmg.3_Missense_Mutation_p.H823D|ABL2_uc001gmi.3_Missense_Mutation_p.H926D|ABL2_uc001gmh.3_Missense_Mutation_p.H905D|ABL2_uc010pne.1_Missense_Mutation_p.H802D NM_007314 NP_009298 CYP26A1 1592 broad.mit.edu 37 10 94836800 94836800 + Missense_Mutation SNP G T T 2011-2368:2012-1297-T g.chr10:94836800G>T uc001kil.2 + 7 1278 c.1233G>T c.(1231-1233)AAG>AAT p.K411N CYP26A1_uc001kik.1_Missense_Mutation_p.K342N|CYP26A1_uc001kim.1_Missense_Mutation_p.K309N NM_000783 NP_000774 INPP5A 3632 broad.mit.edu 37 10 134537105 134537105 + Intron SNP T C C 2011-2368:2012-1297-T g.chr10:134537105T>C uc001llp.2 + INPP5A_uc001llo.1_Intron|INPP5A_uc001llq.2_Intron NM_005539 NP_005530 AHNAK 79026 broad.mit.edu 37 11 62290270 62290270 + Missense_Mutation SNP G C C 2011-2368:2012-1297-T g.chr11:62290270G>C uc001ntl.2 - 5 11919 c.11619C>G c.(11617-11619)ATC>ATG p.I3873M AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 GPR133 283383 broad.mit.edu 37 12 131613969 131613969 + Intron SNP G C C 2011-2368:2012-1297-T g.chr12:131613969G>C uc001uit.3 + GPR133_uc010tbm.1_Intron|GPR133_uc009zyo.2_Intron|GPR133_uc009zyp.2_Intron NM_198827 NP_942122 ABHD13 84945 broad.mit.edu 37 13 108881841 108881841 + Missense_Mutation SNP G C C 2011-2368:2012-1297-T g.chr13:108881841G>C uc001vqq.2 + 2 540 c.275G>C c.(274-276)AGA>ACA p.R92T NM_032859 NP_116248 TLN2 83660 broad.mit.edu 37 15 62944166 62944166 + Intron SNP C A A 2011-2368:2012-1297-T g.chr15:62944166C>A uc002alb.3 + NM_015059 NP_055874 SPG7 6687 broad.mit.edu 37 16 89602619 89602619 + Intron SNP G T T rs76069859 2011-2368:2012-1297-T g.chr16:89602619G>T uc002fnj.2 + SPG7_uc002fni.2_Intron NM_003119 NP_003110 RHBDL3 162494 broad.mit.edu 37 17 30603792 30603792 + Intron SNP G A A 2011-2368:2012-1297-T g.chr17:30603792G>A uc002hhe.1 + RHBDL3_uc010csw.1_Intron|RHBDL3_uc010csx.1_Intron|RHBDL3_uc010csy.1_Intron|RHBDL3_uc002hhf.1_Intron NM_138328 NP_612201 APOB 338 broad.mit.edu 37 2 21260038 21260038 + Silent SNP C A A 2011-2368:2012-1297-T g.chr2:21260038C>A uc002red.2 - 6 755 c.627G>T c.(625-627)CTG>CTT p.L209L NM_000384 NP_000375 DYSF 8291 broad.mit.edu 37 2 71845384 71845384 + Intron SNP G A A rs147685237 by1000genomes 2011-2368:2012-1297-T g.chr2:71845384G>A uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 LRP1B 53353 broad.mit.edu 37 2 141459428 141459428 + Intron SNP G A A 2011-2368:2012-1297-T g.chr2:141459428G>A uc002tvj.1 - NM_018557 NP_061027 NFE2L2 4780 broad.mit.edu 37 2 178097256 178097256 + Missense_Mutation SNP C A A 2011-2368:2012-1297-T g.chr2:178097256C>A uc002ulh.3 - 4 1013 c.458G>T c.(457-459)AGC>ATC p.S153I NFE2L2_uc002ulg.3_Missense_Mutation_p.S137I|NFE2L2_uc010zfa.1_Missense_Mutation_p.S130I|NFE2L2_uc002uli.3_Missense_Mutation_p.S137I|NFE2L2_uc010fra.2_3'UTR NM_006164 NP_006155 STAT1 6772 broad.mit.edu 37 2 191843748 191843748 + Intron SNP C T T 2011-2368:2012-1297-T g.chr2:191843748C>T uc002usj.2 - STAT1_uc010fse.1_Intron|STAT1_uc002usk.2_Intron|STAT1_uc002usl.2_Intron NM_007315 NP_009330 PLCB1 23236 broad.mit.edu 37 20 8719918 8719918 + Missense_Mutation SNP C A A 2011-2368:2012-1297-T g.chr20:8719918C>A uc002wnb.2 + 21 2222 c.2219C>A c.(2218-2220)CCT>CAT p.P740H PLCB1_uc010zrb.1_Missense_Mutation_p.P639H|PLCB1_uc002wna.2_Missense_Mutation_p.P740H|PLCB1_uc002wnc.1_Missense_Mutation_p.P639H|PLCB1_uc002wnd.1_Missense_Mutation_p.P317H NM_015192 NP_056007 BAGE2 85319 broad.mit.edu 37 21 11058212 11058212 + Silent SNP T A A 2011-2368:2012-1297-T g.chr21:11058212T>A uc002yit.1 - 3 436 c.228A>T c.(226-228)TCA>TCT p.S76S BAGE_uc002yiw.1_RNA NM_182482 NP_872288 BBX 56987 broad.mit.edu 37 3 107520025 107520025 + Missense_Mutation SNP G A A 2011-2368:2012-1297-T g.chr3:107520025G>A uc010hpr.2 + 17 2962 c.2635G>A c.(2635-2637)GAG>AAG p.E879K BBX_uc003dwk.3_Missense_Mutation_p.E849K|BBX_uc003dwl.3_Silent_p.P542P|BBX_uc003dwm.3_Missense_Mutation_p.E849K|BBX_uc003dwo.3_Silent_p.P195P NM_001142568 NP_001136040 PIK3CA 5290 broad.mit.edu 37 3 178952074 178952074 + Missense_Mutation SNP G A A rs121913283 2011-2368:2012-1297-T g.chr3:178952074G>A uc003fjk.2 + 21 3286 c.3129G>A c.(3127-3129)ATG>ATA p.M1043I NM_006218 NP_006209 TP63 8626 broad.mit.edu 37 3 189349218 189349218 + 5'UTR SNP C A A 2011-2368:2012-1297-T g.chr3:189349218C>A uc003fry.2 + 1 TP63_uc003frx.2_5'UTR|TP63_uc003frz.2_5'UTR|TP63_uc010hzc.1_5'UTR NM_003722 NP_003713 MUC4 4585 broad.mit.edu 37 3 195502760 195502760 + Intron SNP C G G 2011-2368:2012-1297-T g.chr3:195502760C>G uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 MUC4 4585 broad.mit.edu 37 3 195502774 195502774 + Intron SNP A G G 2011-2368:2012-1297-T g.chr3:195502774A>G uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 TFRC 7037 broad.mit.edu 37 3 195780342 195780342 + Missense_Mutation SNP C A A 2011-2368:2012-1297-T g.chr3:195780342C>A uc003fvz.3 - 18 2270 c.1987G>T c.(1987-1989)GCT>TCT p.A663S TFRC_uc003fwa.3_Missense_Mutation_p.A663S|TFRC_uc010hzy.2_Missense_Mutation_p.A582S|TFRC_uc011btr.1_Missense_Mutation_p.A381S NM_003234 NP_003225 REST 5978 broad.mit.edu 37 4 57797860 57797860 + Nonsense_Mutation SNP G T T 2011-2368:2012-1297-T g.chr4:57797860G>T uc003hch.2 + 4 3183 c.2836G>T c.(2836-2838)GAA>TAA p.E946* REST_uc003hci.2_Nonsense_Mutation_p.E946*|REST_uc010ihf.2_Nonsense_Mutation_p.E620* NM_005612 NP_005603 CEP72 55722 broad.mit.edu 37 5 651157 651157 + Intron SNP G A A rs138759289 2011-2368:2012-1297-T g.chr5:651157G>A uc003jbf.2 + NM_018140 NP_060610 C7orf50 84310 broad.mit.edu 37 7 1056183 1056183 + Intron SNP G A A rs114092963 by1000genomes 2011-2368:2012-1297-T g.chr7:1056183G>A uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 C7orf50 84310 broad.mit.edu 37 7 1056188 1056188 + Intron SNP C T T rs116398517 by1000genomes 2011-2368:2012-1297-T g.chr7:1056188C>T uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 MLL3 58508 broad.mit.edu 37 7 151836742 151836742 + Intron SNP C T T 2011-2368:2012-1297-T g.chr7:151836742C>T uc003wla.2 - MLL3_uc003wkz.2_Intron|MLL3_uc003wkx.2_Intron|MLL3_uc003wky.2_Intron NM_170606 NP_733751 ZFHX4 79776 broad.mit.edu 37 8 77768044 77768044 + Missense_Mutation SNP G T T 2011-2368:2012-1297-T g.chr8:77768044G>T uc003yav.2 + 10 9139 c.8752G>T c.(8752-8754)GGG>TGG p.G2918W ZFHX4_uc003yau.1_Missense_Mutation_p.G2963W|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2918W NM_024721 NP_078997 PKHD1L1 93035 broad.mit.edu 37 8 110520385 110520385 + Missense_Mutation SNP G T T 2011-2368:2012-1297-T g.chr8:110520385G>T uc003yne.2 + 70 11391 c.11287G>T c.(11287-11289)GGG>TGG p.G3763W NM_177531 NP_803875 EPHA2 1969 broad.mit.edu 37 1 16460967 16460967 + Missense_Mutation SNP G A A 2011-2369:2012-1298-T g.chr1:16460967G>A uc001aya.1 - 8 1815 c.1678C>T c.(1678-1680)CGC>TGC p.R560C NM_004431 NP_004422 NOTCH2 4853 broad.mit.edu 37 1 120463097 120463097 + Intron SNP C G G 2011-2369:2012-1298-T g.chr1:120463097C>G uc001eik.2 - NM_024408 NP_077719 FGFR2 2263 broad.mit.edu 37 10 123258034 123258034 + Missense_Mutation SNP A C C rs121913476 2011-2369:2012-1298-T g.chr10:123258034A>C uc010qtk.1 - 13 2294 c.1647T>G c.(1645-1647)AAT>AAG p.N549K FGFR2_uc010qtg.1_Missense_Mutation_p.N437K|FGFR2_uc010qth.1_Missense_Mutation_p.N434K|FGFR2_uc010qti.1_Missense_Mutation_p.N460K|FGFR2_uc010qtj.1_Missense_Mutation_p.N550K|FGFR2_uc010qtl.1_Missense_Mutation_p.N433K|FGFR2_uc010qtm.1_Missense_Mutation_p.N432K|FGFR2_uc001lfl.3_Missense_Mutation_p.N550K|FGFR2_uc001lfm.2_Missense_Mutation_p.N461K|FGFR2_uc001lfg.3_Missense_Mutation_p.N157K NM_000141 NP_000132 ERBB3 2065 broad.mit.edu 37 12 56495511 56495511 + Missense_Mutation SNP C G G 2011-2369:2012-1298-T g.chr12:56495511C>G uc001sjh.2 + 28 3894 c.3701C>G c.(3700-3702)TCT>TGT p.S1234C ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.S591C|ERBB3_uc010sqc.1_Missense_Mutation_p.S1175C|ERBB3_uc009zok.2_Missense_Mutation_p.S499C|ERBB3_uc001sjk.2_Missense_Mutation_p.S475C|ERBB3_uc001sjl.2_Missense_Mutation_p.S354C|PA2G4_uc001sjm.2_5'Flank|PA2G4_uc009zol.2_5'Flank|PA2G4_uc009zom.2_5'Flank NM_001982 NP_001973 FANCA 2175 broad.mit.edu 37 16 89858505 89858505 + Intron SNP T C C rs6500452 byFrequency;by1000genomes 2011-2369:2012-1298-T g.chr16:89858505T>C uc002fou.1 - FANCA_uc010vpn.1_Intron NM_000135 NP_000126 NCOR1 9611 broad.mit.edu 37 17 15960901 15960901 + Missense_Mutation SNP C A A 2011-2369:2012-1298-T g.chr17:15960901C>A uc002gpo.2 - 40 6559 c.6319G>T c.(6319-6321)GCT>TCT p.A2107S NCOR1_uc002gpn.2_Missense_Mutation_p.A2004S|NCOR1_uc002gpl.2_Missense_Mutation_p.A122S|NCOR1_uc002gpm.2_Missense_Mutation_p.A627S|NCOR1_uc010vwb.1_Missense_Mutation_p.A691S|NCOR1_uc010coy.2_Missense_Mutation_p.A1015S|NCOR1_uc010vwc.1_Missense_Mutation_p.A917S NM_006311 NP_006302 STAT3 6774 broad.mit.edu 37 17 40490019 40490019 + Intron SNP T G G rs71367911 2011-2369:2012-1298-T g.chr17:40490019T>G uc002hzl.1 - STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron NM_139276 NP_644805 LRP1B 53353 broad.mit.edu 37 2 141122092 141122092 + Intron SNP C T T 2011-2369:2012-1298-T g.chr2:141122092C>T uc002tvj.1 - NM_018557 NP_061027 PLCB1 23236 broad.mit.edu 37 20 8639213 8639213 + Missense_Mutation SNP G A A 2011-2369:2012-1298-T g.chr20:8639213G>A uc002wnb.2 + 9 727 c.724G>A c.(724-726)GTT>ATT p.V242I PLCB1_uc010zrb.1_Missense_Mutation_p.V141I|PLCB1_uc002wna.2_Missense_Mutation_p.V242I|PLCB1_uc002wnc.1_Missense_Mutation_p.V141I NM_015192 NP_056007 ARFGEF2 10564 broad.mit.edu 37 20 47641799 47641799 + Intron SNP G C C 2011-2369:2012-1298-T g.chr20:47641799G>C uc002xtx.3 + ARFGEF2_uc010zyf.1_Intron NM_006420 NP_006411 MICAL3 57553 broad.mit.edu 37 22 18359618 18359618 + Intron SNP G C C 2011-2369:2012-1298-T g.chr22:18359618G>C uc002zng.3 - MICAL3_uc011agl.1_Intron|MICAL3_uc002znh.2_Intron|MICAL3_uc002znj.1_Intron|MICAL3_uc002znk.1_Intron|MICAL3_uc002znl.1_Intron|MICAL3_uc002znm.2_Intron|MICAL3_uc010grf.2_Intron NM_015241 NP_056056 MYD88 4615 broad.mit.edu 37 3 38179998 38179998 + 5'UTR SNP A C C 2011-2369:2012-1298-T g.chr3:38179998A>C uc003chx.2 + 1 ACAA1_uc003cht.2_5'Flank|ACAA1_uc003chu.2_5'Flank|ACAA1_uc010hgy.2_5'Flank|ACAA1_uc010hgz.2_5'Flank|ACAA1_uc003chv.2_5'Flank|MYD88_uc011ayh.1_5'UTR|MYD88_uc011ayi.1_5'UTR|MYD88_uc011ayj.1_5'UTR|MYD88_uc011ayk.1_5'UTR|MYD88_uc011ayl.1_5'UTR NM_002468 NP_002459 THSD7A 221981 broad.mit.edu 37 7 11485677 11485677 + Intron SNP G T T 2011-2369:2012-1298-T g.chr7:11485677G>T uc003ssf.3 - NM_015204 NP_056019 PTPRN2 5799 broad.mit.edu 37 7 157851862 157851862 + Intron SNP A C C 2011-2369:2012-1298-T g.chr7:157851862A>C uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 NOTCH1 4851 broad.mit.edu 37 9 139404185 139404185 + Missense_Mutation SNP C T T 2011-2369:2012-1298-T g.chr9:139404185C>T uc004chz.2 - 18 2969 c.2969G>A c.(2968-2970)AGC>AAC p.S990N NOTCH1_uc004cia.1_Missense_Mutation_p.S220N NM_017617 NP_060087 C1orf173 127254 broad.mit.edu 37 1 75065555 75065555 + Missense_Mutation SNP C A A 2011-2370:2012-1299-T g.chr1:75065555C>A uc001dgg.2 - 11 1769 c.1550G>T c.(1549-1551)GGA>GTA p.G517V uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.G311V NM_001002912 NP_001002912 SPAG17 200162 broad.mit.edu 37 1 118727623 118727623 + Intron SNP C T T 2011-2370:2012-1299-T g.chr1:118727623C>T uc001ehk.2 - NM_206996 NP_996879 FLG2 388698 broad.mit.edu 37 1 152324066 152324066 + Missense_Mutation SNP G A A 2011-2370:2012-1299-T g.chr1:152324066G>A uc001ezw.3 - 3 6269 c.6196C>T c.(6196-6198)CAT>TAT p.H2066Y uc001ezv.2_Intron NM_001014342 NP_001014364 ASH1L 55870 broad.mit.edu 37 1 155447719 155447719 + Missense_Mutation SNP C T T 2011-2370:2012-1299-T g.chr1:155447719C>T uc009wqq.2 - 3 5422 c.4942G>A c.(4942-4944)GAG>AAG p.E1648K ASH1L_uc001fkt.2_Missense_Mutation_p.E1648K|ASH1L_uc009wqr.1_Missense_Mutation_p.E1648K NM_018489 NP_060959 ASH1L 55870 broad.mit.edu 37 1 155449774 155449774 + Missense_Mutation SNP C G G 2011-2370:2012-1299-T g.chr1:155449774C>G uc009wqq.2 - 3 3367 c.2887G>C c.(2887-2889)GAG>CAG p.E963Q ASH1L_uc001fkt.2_Missense_Mutation_p.E963Q|ASH1L_uc009wqr.1_Missense_Mutation_p.E963Q NM_018489 NP_060959 ASH1L 55870 broad.mit.edu 37 1 155450367 155450367 + Missense_Mutation SNP C G G 2011-2370:2012-1299-T g.chr1:155450367C>G uc009wqq.2 - 3 2774 c.2294G>C c.(2293-2295)GGA>GCA p.G765A ASH1L_uc001fkt.2_Missense_Mutation_p.G765A|ASH1L_uc009wqr.1_Missense_Mutation_p.G765A NM_018489 NP_060959 USH2A 7399 broad.mit.edu 37 1 216062090 216062090 + Missense_Mutation SNP G C C 2011-2370:2012-1299-T g.chr1:216062090G>C uc001hku.1 - 41 8288 c.7901C>G c.(7900-7902)TCT>TGT p.S2634C NM_206933 NP_996816 CUBN 8029 broad.mit.edu 37 10 17089579 17089579 + Missense_Mutation SNP C T T 2011-2370:2012-1299-T g.chr10:17089579C>T uc001ioo.2 - 23 3215 c.3163G>A c.(3163-3165)GAT>AAT p.D1055N NM_001081 NP_001072 AHNAK 79026 broad.mit.edu 37 11 62289889 62289889 + Silent SNP C T T 2011-2370:2012-1299-T g.chr11:62289889C>T uc001ntl.2 - 5 12300 c.12000G>A c.(11998-12000)AAG>AAA p.K4000K AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 AHNAK 79026 broad.mit.edu 37 11 62290005 62290005 + Missense_Mutation SNP C G G 2011-2370:2012-1299-T g.chr11:62290005C>G uc001ntl.2 - 5 12184 c.11884G>C c.(11884-11886)GAC>CAC p.D3962H AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 MLL2 8085 broad.mit.edu 37 12 49423262 49423262 + Intron SNP G C C 2011-2370:2012-1299-T g.chr12:49423262G>C uc001rta.3 - NM_003482 NP_003473 ANO4 121601 broad.mit.edu 37 12 101188252 101188252 + 5'Flank SNP C G G 2011-2370:2012-1299-T g.chr12:101188252C>G uc010svm.1 + ANO4_uc010svl.1_Intron|ANO4_uc001thw.2_5'Flank NM_178826 NP_849148 TPP2 7174 broad.mit.edu 37 13 103266520 103266520 + Missense_Mutation SNP C G G 2011-2370:2012-1299-T g.chr13:103266520C>G uc001vpi.3 + 3 467 c.364C>G c.(364-366)CCT>GCT p.P122A NM_003291 NP_003282 RPLP1 6176 broad.mit.edu 37 15 69745167 69745167 + 5'UTR SNP C T T 2011-2370:2012-1299-T g.chr15:69745167C>T uc002asd.1 + 1 RPLP1_uc002ase.1_5'UTR NM_001003 NP_000994 PALB2 79728 broad.mit.edu 37 16 23649995 23649995 + Intron SNP G A A 2011-2370:2012-1299-T g.chr16:23649995G>A uc002dlx.1 - DCTN5_uc002dly.1_5'Flank NM_024675 NP_078951 TP53 7157 broad.mit.edu 37 17 7579744 7579744 + Intron SNP C T T 2011-2370:2012-1299-T g.chr17:7579744C>T uc002gim.2 - TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Intron|TP53_uc010cni.1_Intron|TP53_uc002gij.2_Intron|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Intron NM_001126112 NP_001119584 BRIP1 83990 broad.mit.edu 37 17 59924486 59924486 + Missense_Mutation SNP C G G 2011-2370:2012-1299-T g.chr17:59924486C>G uc002izk.1 - 6 744 c.603G>C c.(601-603)AAG>AAC p.K201N NM_032043 NP_114432 PIK3C3 5289 broad.mit.edu 37 18 39644851 39644851 + Intron SNP G A A 2011-2370:2012-1299-T g.chr18:39644851G>A uc002lap.2 + PIK3C3_uc010xcl.1_Intron|PIK3C3_uc002laq.2_Intron NM_002647 NP_002638 NLRP11 204801 broad.mit.edu 37 19 56307547 56307547 + Missense_Mutation SNP A C C 2011-2370:2012-1299-T g.chr19:56307547A>C uc010ygf.1 - 8 2952 c.2241T>G c.(2239-2241)AGT>AGG p.S747R NLRP11_uc002qlz.2_Missense_Mutation_p.S594R|NLRP11_uc002qmb.2_Missense_Mutation_p.S648R|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 LRP1B 53353 broad.mit.edu 37 2 140996919 140996919 + Intron SNP C T T 2011-2370:2012-1299-T g.chr2:140996919C>T uc002tvj.1 - NM_018557 NP_061027 NFE2L2 4780 broad.mit.edu 37 2 178098957 178098957 + Missense_Mutation SNP G A A 2011-2370:2012-1299-T g.chr2:178098957G>A uc002ulh.3 - 2 643 c.88C>T c.(88-90)CTT>TTT p.L30F NFE2L2_uc002ulg.3_Missense_Mutation_p.L14F|NFE2L2_uc010zfa.1_Missense_Mutation_p.L14F|NFE2L2_uc002uli.3_Missense_Mutation_p.L14F|NFE2L2_uc010fra.2_Missense_Mutation_p.L14F|NFE2L2_uc010frb.2_Missense_Mutation_p.L14F NM_006164 NP_006155 RIPK4 54101 broad.mit.edu 37 21 43161574 43161574 + Silent SNP C T T 2011-2370:2012-1299-T g.chr21:43161574C>T uc002yzn.1 - 8 1827 c.1779G>A c.(1777-1779)CCG>CCA p.P593P NM_020639 NP_065690 FANCD2 2177 broad.mit.edu 37 3 10084761 10084761 + Missense_Mutation SNP G C C 2011-2370:2012-1299-T g.chr3:10084761G>C uc003buw.2 + 12 994 c.916G>C c.(916-918)GAT>CAT p.D306H FANCD2_uc003bux.1_Missense_Mutation_p.D306H|FANCD2_uc003buy.1_Missense_Mutation_p.D306H NM_033084 NP_149075 EPHB1 2047 broad.mit.edu 37 3 134513960 134513960 + 5'Flank SNP C G G 2011-2370:2012-1299-T g.chr3:134513960C>G uc003eqt.2 + EPHB1_uc010htz.1_5'Flank|EPHB1_uc011bly.1_5'Flank NM_004441 NP_004432 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 2011-2370:2012-1299-T g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 TP63 8626 broad.mit.edu 37 3 189587091 189587091 + Intron SNP A G G rs6789961 byFrequency;by1000genomes 2011-2370:2012-1299-T g.chr3:189587091A>G uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsa.2_Intron|TP63_uc003fsb.2_Intron|TP63_uc003fsc.2_Intron|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Intron NM_003722 NP_003713 WHSC1 7468 broad.mit.edu 37 4 1895491 1895491 + Intron SNP C T T 2011-2370:2012-1299-T g.chr4:1895491C>T uc003gdz.3 + WHSC1_uc003geb.3_5'UTR|WHSC1_uc003gec.3_Intron|WHSC1_uc003ged.3_Intron|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Intron|WHSC1_uc003gdy.1_Intron|WHSC1_uc010icd.1_Intron|WHSC1_uc003gea.1_5'UTR NM_001042424 NP_001035889 PDGFRA 5156 broad.mit.edu 37 4 55127392 55127392 + Silent SNP C A A 2011-2370:2012-1299-T g.chr4:55127392C>A uc003han.3 + 3 511 c.180C>A c.(178-180)CCC>CCA p.P60P PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_Silent_p.P60P|PDGFRA_uc010igq.1_Intron|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 KIT 3815 broad.mit.edu 37 4 55599219 55599219 + Intron SNP C G G 2011-2370:2012-1299-T g.chr4:55599219C>G uc010igr.2 + KIT_uc010igs.2_Intron NM_000222 NP_000213 FAT1 2195 broad.mit.edu 37 4 187531156 187531156 + Silent SNP G A A 2011-2370:2012-1299-T g.chr4:187531156G>A uc003izf.2 - 15 10055 c.9867C>T c.(9865-9867)ATC>ATT p.I3289I NM_005245 NP_005236 FAT1 2195 broad.mit.edu 37 4 187535221 187535221 + Intron SNP G A A 2011-2370:2012-1299-T g.chr4:187535221G>A uc003izf.2 - NM_005245 NP_005236 FAT1 2195 broad.mit.edu 37 4 187541100 187541100 + Missense_Mutation SNP C G G 2011-2370:2012-1299-T g.chr4:187541100C>G uc003izf.2 - 10 6828 c.6640G>C c.(6640-6642)GTG>CTG p.V2214L NM_005245 NP_005236 DNAH5 1767 broad.mit.edu 37 5 13870893 13870893 + Missense_Mutation SNP G C C 2011-2370:2012-1299-T g.chr5:13870893G>C uc003jfd.2 - 24 3859 c.3817C>G c.(3817-3819)CAA>GAA p.Q1273E NM_001369 NP_001360 CDH12 1010 broad.mit.edu 37 5 21802380 21802380 + Silent SNP G A A 2011-2370:2012-1299-T g.chr5:21802380G>A uc010iuc.2 - 7 1610 c.1152C>T c.(1150-1152)TTC>TTT p.F384F CDH12_uc011cno.1_Silent_p.F344F|CDH12_uc003jgk.2_Silent_p.F384F NM_004061 NP_004052 CDH12 1010 broad.mit.edu 37 5 22853526 22853526 + 5'UTR SNP C T T 2011-2370:2012-1299-T g.chr5:22853526C>T uc003jgk.2 - 1 NM_004061 NP_004052 PCDHB2 56133 broad.mit.edu 37 5 140474896 140474896 + Silent SNP C T T 2011-2370:2012-1299-T g.chr5:140474896C>T uc003lil.2 + 1 660 c.522C>T c.(520-522)ATC>ATT p.I174I PCDHB2_uc003lim.1_5'UTR NM_018936 NP_061759 FAT2 2196 broad.mit.edu 37 5 150931089 150931089 + Missense_Mutation SNP C G G 2011-2370:2012-1299-T g.chr5:150931089C>G uc003lue.3 - 6 4248 c.4235G>C c.(4234-4236)AGA>ACA p.R1412T GM2A_uc011dcs.1_Intron NM_001447 NP_001438 NSD1 64324 broad.mit.edu 37 5 176687272 176687272 + Intron SNP A T T 2011-2370:2012-1299-T g.chr5:176687272A>T uc003mfr.3 + NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Intron|NSD1_uc011dfx.1_Intron NM_022455 NP_071900 HIST1H4H 8365 broad.mit.edu 37 6 26285919 26285919 + 5'Flank SNP G C C 2011-2370:2012-1299-T g.chr6:26285919G>C uc003nhm.2 - HIST1H4H_uc003nhl.1_5'Flank NM_003543 NP_003534 PHIP 55023 broad.mit.edu 37 6 79725435 79725435 + Missense_Mutation SNP C T T 2011-2370:2012-1299-T g.chr6:79725435C>T uc003pir.2 - 14 1527 c.1301G>A c.(1300-1302)CGA>CAA p.R434Q PHIP_uc011dyp.1_Missense_Mutation_p.R434Q NM_017934 NP_060404 EPHA7 2045 broad.mit.edu 37 6 94129244 94129244 + Translation_Start_Site SNP G A A 2011-2370:2012-1299-T g.chr6:94129244G>A uc003poe.2 - 1 57 c.-184C>T c.(-186--182)CACGG>CATGG EPHA7_uc003pof.2_Translation_Start_Site|EPHA7_uc011eac.1_Translation_Start_Site|EPHA7_uc003pog.3_Translation_Start_Site NM_004440 NP_004431 SMOC2 64094 broad.mit.edu 37 6 169014595 169014595 + Intron SNP G C C rs111232055 2011-2370:2012-1299-T g.chr6:169014595G>C uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 THSD7A 221981 broad.mit.edu 37 7 11485705 11485705 + Missense_Mutation SNP G C C 2011-2370:2012-1299-T g.chr7:11485705G>C uc003ssf.3 - 13 3299 c.3047C>G c.(3046-3048)TCT>TGT p.S1016C NM_015204 NP_056019 ZNF804B 219578 broad.mit.edu 37 7 88388454 88388454 + 5'Flank SNP A C C 2011-2370:2012-1299-T g.chr7:88388454A>C uc011khi.1 + NM_181646 NP_857597 TRRAP 8295 broad.mit.edu 37 7 98565138 98565138 + Silent SNP G T T rs147466222 2011-2370:2012-1299-T g.chr7:98565138G>T uc003upp.2 + 50 7517 c.7308G>T c.(7306-7308)ACG>ACT p.T2436T TRRAP_uc011kis.1_Silent_p.T2418T|TRRAP_uc003upr.2_Silent_p.T2135T NM_003496 NP_003487 GRM8 2918 broad.mit.edu 37 7 126086289 126086289 + Missense_Mutation SNP G C C 2011-2370:2012-1299-T g.chr7:126086289G>C uc003vlr.2 - 9 2879 c.2568C>G c.(2566-2568)TTC>TTG p.F856L GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.F856L|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 GRM8 2918 broad.mit.edu 37 7 126086429 126086429 + Intron SNP G A A 2011-2370:2012-1299-T g.chr7:126086429G>A uc003vlr.2 - GRM8_uc003vls.2_Intron|GRM8_uc011kof.1_Intron|GRM8_uc003vlt.2_Intron|GRM8_uc010lkz.1_Intron NM_000845 NP_000836 MLL3 58508 broad.mit.edu 37 7 151879229 151879229 + Nonsense_Mutation SNP G A A 2011-2370:2012-1299-T g.chr7:151879229G>A uc003wla.2 - 36 5935 c.5716C>T c.(5716-5718)CGA>TGA p.R1906* MLL3_uc003wkz.2_Nonsense_Mutation_p.R967* NM_170606 NP_733751 PTPRN2 5799 broad.mit.edu 37 7 158234557 158234557 + Intron SNP C G G rs150461930 by1000genomes 2011-2370:2012-1299-T g.chr7:158234557C>G uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 TEX15 56154 broad.mit.edu 37 8 30704517 30704517 + Missense_Mutation SNP C T T 2011-2370:2012-1299-T g.chr8:30704517C>T uc003xil.2 - 1 2017 c.2017G>A c.(2017-2019)GAA>AAA p.E673K NM_031271 NP_112561 RB1CC1 9821 broad.mit.edu 37 8 53586461 53586461 + Missense_Mutation SNP C G G 2011-2370:2012-1299-T g.chr8:53586461C>G uc003xre.3 - 7 1504 c.946G>C c.(946-948)GAT>CAT p.D316H RB1CC1_uc003xrf.3_Missense_Mutation_p.D316H NM_014781 NP_055596 NKAIN3 286183 broad.mit.edu 37 8 63777535 63777535 + Intron SNP C G G 2011-2370:2012-1299-T g.chr8:63777535C>G uc010lyq.1 + NM_173688 NP_775959 MMP16 4325 broad.mit.edu 37 8 89339455 89339455 + 5'UTR SNP G A A 2011-2370:2012-1299-T g.chr8:89339455G>A uc003yeb.3 - 1 MMP16_uc003yec.2_5'UTR NM_005941 NP_005932 ZNF572 137209 broad.mit.edu 37 8 125989857 125989857 + Silent SNP C T T 2011-2370:2012-1299-T g.chr8:125989857C>T uc003yrr.2 + 3 1502 c.1347C>T c.(1345-1347)TTC>TTT p.F449F NM_152412 NP_689625 FANCC 2176 broad.mit.edu 37 9 97887597 97887597 + Intron SNP C A A 2011-2370:2012-1299-T g.chr9:97887597C>A uc004avh.2 - FANCC_uc004avi.3_Intron|uc004avj.2_5'Flank NM_000136 NP_000127 NOTCH1 4851 broad.mit.edu 37 9 139396747 139396747 + Silent SNP G A A 2011-2370:2012-1299-T g.chr9:139396747G>A uc004chz.2 - 28 5361 c.5361C>T c.(5359-5361)CTC>CTT p.L1787L NM_017617 NP_060087 RGAG1 57529 broad.mit.edu 37 X 109695443 109695443 + Missense_Mutation SNP C G G 2011-2370:2012-1299-T g.chrX:109695443C>G uc004eor.1 + 3 1844 c.1598C>G c.(1597-1599)TCT>TGT p.S533C RGAG1_uc011msr.1_Missense_Mutation_p.S533C NM_020769 NP_065820 STK32C 282974 broad.mit.edu 37 10 134096009 134096009 + Intron SNP G A A rs139299481 by1000genomes 2011-2371:2012-1300-T g.chr10:134096009G>A uc001lle.1 - STK32C_uc001lld.1_Intron|STK32C_uc010quu.1_Intron|STK32C_uc009ybc.1_Intron|STK32C_uc009ybd.1_Intron NM_173575 NP_775846 HRAS 3265 broad.mit.edu 37 11 533552 533552 + Missense_Mutation SNP C A A 2011-2371:2012-1300-T g.chr11:533552C>A uc001lpv.2 - 4 539 c.351G>T c.(349-351)AAG>AAT p.K117N HRAS_uc010qvw.1_Missense_Mutation_p.K117N|HRAS_uc010qvx.1_Missense_Mutation_p.K117N|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 INF2 64423 broad.mit.edu 37 14 105325940 105325940 + Intron SNP G A A 2011-2371:2012-1300-T g.chr14:105325940G>A uc010tyi.1 + NM_022489 NP_071934 INF2 64423 broad.mit.edu 37 14 105325943 105325943 + Intron SNP A G G 2011-2371:2012-1300-T g.chr14:105325943A>G uc010tyi.1 + NM_022489 NP_071934 TTN 7273 broad.mit.edu 37 2 179486662 179486662 + Missense_Mutation SNP C A A 2011-2371:2012-1300-T g.chr2:179486662C>A uc010zfg.1 - 193 37507 c.37283G>T c.(37282-37284)CGC>CTC p.R12428L TTN_uc010zfh.1_Missense_Mutation_p.R6123L|TTN_uc010zfi.1_Missense_Mutation_p.R6056L|TTN_uc010zfj.1_Missense_Mutation_p.R5931L NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179592815 179592815 + Intron SNP G T T 2011-2371:2012-1300-T g.chr2:179592815G>T uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133378 NP_596869 PAX3 5077 broad.mit.edu 37 2 223160203 223160203 + Intron SNP C A A 2011-2371:2012-1300-T g.chr2:223160203C>A uc010fwo.2 - PAX3_uc002vmt.1_Intron|PAX3_uc002vmy.1_Intron|PAX3_uc002vmv.1_Intron|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron|PAX3_uc002vmz.1_Intron|PAX3_uc002vna.1_Intron|CCDC140_uc002vnb.1_5'Flank NM_181457 NP_852122 C20orf26 26074 broad.mit.edu 37 20 20338581 20338581 + Intron SNP G A A 2011-2371:2012-1300-T g.chr20:20338581G>A uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 FANCD2 2177 broad.mit.edu 37 3 10115175 10115175 + Intron SNP G C C rs3843378 by1000genomes 2011-2371:2012-1300-T g.chr3:10115175G>C uc003buw.2 + FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron NM_033084 NP_149075 FAT1 2195 broad.mit.edu 37 4 187518976 187518976 + Intron SNP C T T rs2306990 by1000genomes 2011-2371:2012-1300-T g.chr4:187518976C>T uc003izf.2 - FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_5'Flank NM_005245 NP_005236 BTNL9 153579 broad.mit.edu 37 5 180473002 180473002 + Intron SNP C T T 2011-2371:2012-1300-T g.chr5:180473002C>T uc003mmt.2 + BTNL9_uc011dhi.1_Intron NM_152547 NP_689760 E2F3 1871 broad.mit.edu 37 6 20401784 20401784 + 5'Flank SNP G T T 2011-2371:2012-1300-T g.chr6:20401784G>T uc003nda.2 + E2F3_uc003ncz.2_5'Flank NM_001949 NP_001940 POU5F1 5460 broad.mit.edu 37 6 31133943 31133943 + Intron SNP C A A rs115857083 byFrequency;by1000genomes 2011-2371:2012-1300-T g.chr6:31133943C>A uc003nsv.2 - POU5F1_uc003nsu.2_Missense_Mutation_p.R1M NM_002701 NP_002692 ERICH1 157697 broad.mit.edu 37 8 650510 650510 + Intron SNP G T T rs112179967 2011-2371:2012-1300-T g.chr8:650510G>T uc003wph.2 - ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron NM_207332 NP_997215 PCM1 5108 broad.mit.edu 37 8 17780286 17780286 + 5'Flank SNP T G G 2011-2371:2012-1300-T g.chr8:17780286T>G uc003wyi.3 + PCM1_uc011kyh.1_5'Flank|PCM1_uc003wyj.3_5'Flank|PCM1_uc003wyg.2_5'Flank|PCM1_uc003wyh.2_5'Flank|PCM1_uc010lta.1_5'Flank NM_006197 NP_006188 NECAB1 64168 broad.mit.edu 37 8 91884534 91884534 + Intron SNP G A A rs7829663 by1000genomes 2011-2371:2012-1300-T g.chr8:91884534G>A uc011lgg.1 + NM_022351 NP_071746 NOTCH2 4853 broad.mit.edu 37 1 120539530 120539530 + Intron SNP G C C rs2746768 by1000genomes 2011-2373:2012-1301-T g.chr1:120539530G>C uc001eik.2 - NOTCH2_uc001eil.2_Intron|NOTCH2_uc001eim.3_Intron NM_024408 NP_077719 SMYD3 64754 broad.mit.edu 37 1 246139563 246139563 + Intron SNP C T T 2011-2373:2012-1301-T g.chr1:246139563C>T uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 TSPAN9 10867 broad.mit.edu 37 12 3377728 3377728 + Intron SNP C A A 2011-2373:2012-1301-T g.chr12:3377728C>A uc001qlp.2 + NM_006675 NP_006666 NRXN3 9369 broad.mit.edu 37 14 78869886 78869886 + 5'Flank SNP C G G 2011-2373:2012-1301-T g.chr14:78869886C>G uc001xun.2 + NRXN3_uc001xum.1_Intron NM_004796 NP_004787 MTA1 9112 broad.mit.edu 37 14 105924695 105924695 + Silent SNP C T T 2011-2373:2012-1301-T g.chr14:105924695C>T uc001yqx.2 + 8 826 c.639C>T c.(637-639)TTC>TTT p.F213F MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Silent_p.F127F|MTA1_uc001yra.1_Silent_p.F127F|MTA1_uc001yrb.2_5'UTR NM_004689 NP_004680 B2M 567 broad.mit.edu 37 15 45007672 45007672 + Nonsense_Mutation SNP C G G 2011-2373:2012-1301-T g.chr15:45007672C>G uc001zuc.2 + 2 179 c.119C>G c.(118-120)TCA>TGA p.S40* B2M_uc010uek.1_Nonsense_Mutation_p.S40*|B2M_uc010bdx.1_Nonsense_Mutation_p.S40* NM_004048 NP_004039 SMG1 23049 broad.mit.edu 37 16 18821026 18821026 + Intron SNP G T T 2011-2373:2012-1301-T g.chr16:18821026G>T uc002dfm.2 - SMG1_uc010bwb.2_Intron|SMG1_uc010bwa.2_Intron NM_015092 NP_055907 CYLD 1540 broad.mit.edu 37 16 50776513 50776513 + Intron SNP G A A 2011-2373:2012-1301-T g.chr16:50776513G>A uc002egp.1 + CYLD_uc002egn.1_Intron|CYLD_uc002ego.2_Intron|CYLD_uc010cbs.1_Intron|CYLD_uc002egq.1_Intron|CYLD_uc002egr.1_Intron NM_015247 NP_056062 KLHDC4 54758 broad.mit.edu 37 16 87772408 87772408 + Intron SNP T C C 2011-2373:2012-1301-T g.chr16:87772408T>C uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 PRKCA 5578 broad.mit.edu 37 17 64685053 64685053 + Intron SNP C T T 2011-2373:2012-1301-T g.chr17:64685053C>T uc002jfp.1 + PRKCA_uc002jfo.1_Intron NM_002737 NP_002728 KEAP1 9817 broad.mit.edu 37 19 10599845 10599845 + Intron SNP C A A 2011-2373:2012-1301-T g.chr19:10599845C>A uc002moq.1 - KEAP1_uc002mop.1_Intron|KEAP1_uc002mor.1_Intron NM_012289 NP_036421 RMND5A 64795 broad.mit.edu 37 2 87623808 87623808 + Intron SNP G A A 2011-2373:2012-1301-T g.chr2:87623808G>A uc002srs.3 + ZNF217 7764 broad.mit.edu 37 20 52193352 52193352 + Missense_Mutation SNP G A A 2011-2373:2012-1301-T g.chr20:52193352G>A uc002xwq.3 - 3 2222 c.1951C>T c.(1951-1953)CCG>TCG p.P651S ZNF217_uc010gij.1_Missense_Mutation_p.P643S NM_006526 NP_006517 ZIC1 7545 broad.mit.edu 37 3 147124919 147124919 + 5'Flank SNP C G G 2011-2373:2012-1301-T g.chr3:147124919C>G uc003ewe.2 + ZIC4_uc011bno.1_5'Flank|ZIC4_uc003ewd.1_5'Flank NM_003412 NP_003403 REST 5978 broad.mit.edu 37 4 57774255 57774255 + Translation_Start_Site SNP C T T 2011-2373:2012-1301-T g.chr4:57774255C>T uc003hch.2 + 1 214 c.-133C>T c.(-135--131)GACGG>GATGG REST_uc003hci.2_5'Flank|REST_uc003hcj.1_5'Flank|REST_uc010ihf.2_5'Flank NM_005612 NP_005603 PHF17 79960 broad.mit.edu 37 4 129736265 129736265 + Intron SNP T C C 2011-2373:2012-1301-T g.chr4:129736265T>C uc003igk.2 + PHF17_uc003igj.2_Intron|PHF17_uc003igl.2_Intron|PHF17_uc011cgy.1_Intron|PHF17_uc003igm.2_Intron NM_199320 NP_955352 INPP4B 8821 broad.mit.edu 37 4 143114398 143114398 + Intron SNP C T T 2011-2373:2012-1301-T g.chr4:143114398C>T uc003iix.3 - INPP4B_uc003iiw.3_Intron|INPP4B_uc011chm.1_Intron|INPP4B_uc011chn.1_Intron|INPP4B_uc011cho.1_Intron|INPP4B_uc011chp.1_Intron NM_003866 NP_003857 FAT1 2195 broad.mit.edu 37 4 187538014 187538014 + Intron SNP T A A 2011-2373:2012-1301-T g.chr4:187538014T>A uc003izf.2 - NM_005245 NP_005236 SRPK2 6733 broad.mit.edu 37 7 104909416 104909416 + 5'UTR SNP G A A 2011-2373:2012-1301-T g.chr7:104909416G>A uc003vct.2 - 1 SRPK2_uc003vcu.2_Intron|SRPK2_uc003vcv.2_Intron|SRPK2_uc003vcw.1_Intron NM_182691 NP_872633 TSC1 7248 broad.mit.edu 37 9 135787747 135787747 + Missense_Mutation SNP G A A rs118203457 2011-2373:2012-1301-T g.chr9:135787747G>A uc004cca.2 - 9 1069 c.835C>T c.(835-837)CAC>TAC p.H279Y TSC1_uc004ccb.3_Missense_Mutation_p.H279Y|TSC1_uc011mcq.1_Missense_Mutation_p.H228Y|TSC1_uc011mcr.1_Missense_Mutation_p.H158Y|TSC1_uc011mcs.1_Missense_Mutation_p.H158Y|TSC1_uc004ccc.1_Missense_Mutation_p.H279Y|TSC1_uc004ccd.2_Missense_Mutation_p.H279Y|TSC1_uc004cce.1_Missense_Mutation_p.H279Y NM_000368 NP_000359 FANCB 2187 broad.mit.edu 37 X 14887147 14887147 + 5'UTR SNP C G G rs2188383 by1000genomes 2011-2373:2012-1301-T g.chrX:14887147C>G uc004cwg.1 - 2 FANCB_uc004cwh.1_Intron NM_001018113 NP_001018123 HUWE1 10075 broad.mit.edu 37 X 53560299 53560299 + Missense_Mutation SNP C G G 2011-2373:2012-1301-T g.chrX:53560299C>G uc004dsp.2 - 84 13498 c.13096G>C c.(13096-13098)GAG>CAG p.E4366Q HUWE1_uc004dsn.2_Missense_Mutation_p.E3174Q NM_031407 NP_113584 HUWE1 10075 broad.mit.edu 37 X 53560335 53560335 + Missense_Mutation SNP C G G 2011-2373:2012-1301-T g.chrX:53560335C>G uc004dsp.2 - 84 13462 c.13060G>C c.(13060-13062)GAG>CAG p.E4354Q HUWE1_uc004dsn.2_Missense_Mutation_p.E3162Q NM_031407 NP_113584 GPR123 84435 broad.mit.edu 37 10 134891742 134891742 + Intron SNP T G G rs71991644 2011-2374:2012-1302-T g.chr10:134891742T>G uc001llw.2 + GPR123 84435 broad.mit.edu 37 10 134891750 134891750 + Intron SNP T G G 2011-2374:2012-1302-T g.chr10:134891750T>G uc001llw.2 + CACNA1C 775 broad.mit.edu 37 12 2389457 2389457 + Intron SNP A G G rs4765912 2011-2374:2012-1302-T g.chr12:2389457A>G uc009zdu.1 + CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc001qkj.1_Intron|CACNA1C_uc001qkk.1_Intron|CACNA1C_uc001qkm.1_Intron NM_199460 NP_955630 MLL2 8085 broad.mit.edu 37 12 49425086 49425086 + Missense_Mutation SNP G A A 2011-2374:2012-1302-T g.chr12:49425086G>A uc001rta.3 - 39 13402 c.13402C>T c.(13402-13404)CGG>TGG p.R4468W NM_003482 NP_003473 CDK4 1019 broad.mit.edu 37 12 58143178 58143178 + Intron SNP G T T 2011-2374:2012-1302-T g.chr12:58143178G>T uc001spv.2 - CDK4_uc010ssb.1_Intron|CDK4_uc001spw.2_Intron|uc010ssc.1_5'Flank NM_000075 NP_000066 LRFN5 145581 broad.mit.edu 37 14 42077254 42077254 + 5'UTR SNP C T T 2011-2374:2012-1302-T g.chr14:42077254C>T uc001wvm.2 + 1 NM_152447 NP_689660 SYNE2 23224 broad.mit.edu 37 14 64450371 64450371 + Intron SNP T G G 2011-2374:2012-1302-T g.chr14:64450371T>G uc001xgm.2 + SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64565795 64565795 + Intron SNP G C C 2011-2374:2012-1302-T g.chr14:64565795G>C uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc010apx.1_3'UTR|SYNE2_uc010apz.1_Intron NM_015180 NP_055995 BTBD12 84464 broad.mit.edu 37 16 3658568 3658568 + Missense_Mutation SNP G A A 2011-2374:2012-1302-T g.chr16:3658568G>A uc002cvp.2 - 2 1025 c.398C>T c.(397-399)CCG>CTG p.P133L BTBD12_uc002cvq.1_Missense_Mutation_p.P133L NM_032444 NP_115820 TTN 7273 broad.mit.edu 37 2 179431601 179431601 + Missense_Mutation SNP C T T 2011-2374:2012-1302-T g.chr2:179431601C>T uc010zfg.1 - 275 71778 c.71554G>A c.(71554-71556)GGT>AGT p.G23852S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G17547S|TTN_uc010zfi.1_Missense_Mutation_p.G17480S|TTN_uc010zfj.1_Missense_Mutation_p.G17355S NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179635936 179635936 + Splice_Site SNP G C C 2011-2374:2012-1302-T g.chr2:179635936G>C uc010zfg.1 - 34 8340 c.8116_splice c.e34+1 p.A2706_splice TTN_uc010zfh.1_Splice_Site_p.A2660_splice|TTN_uc010zfi.1_Splice_Site_p.A2660_splice|TTN_uc010zfj.1_Splice_Site_p.A2660_splice|TTN_uc002unb.2_Splice_Site_p.A2706_splice NM_133378 NP_596869 ORMDL1 94101 broad.mit.edu 37 2 190648404 190648404 + 5'Flank SNP C A A 2011-2374:2012-1302-T g.chr2:190648404C>A uc002urb.3 - PMS1_uc010zga.1_5'Flank|PMS1_uc010zgb.1_5'Flank|PMS1_uc002urh.3_5'Flank|PMS1_uc002urk.3_5'Flank|PMS1_uc002uri.3_5'Flank|PMS1_uc010zgc.1_5'Flank|PMS1_uc010zgd.1_5'Flank|PMS1_uc002urj.2_5'Flank|ORMDL1_uc002urc.3_Intron|ORMDL1_uc002urd.3_Intron|ORMDL1_uc002ure.3_Intron|ORMDL1_uc002urf.3_Intron|PMS1_uc010zfz.1_5'Flank NM_016467 NP_057551 BAGE2 85319 broad.mit.edu 37 21 11038946 11038946 + 3'UTR SNP A C C 2011-2374:2012-1302-T g.chr21:11038946A>C uc002yit.1 - 6 TPTE_uc002yis.1_RNA NM_182482 NP_872288 PIK3CA 5290 broad.mit.edu 37 3 178867188 178867188 + Intron SNP T G G 2011-2374:2012-1302-T g.chr3:178867188T>G uc003fjk.2 + uc003fjj.2_5'Flank NM_006218 NP_006209 PDGFRA 5156 broad.mit.edu 37 4 55151585 55151585 + Missense_Mutation SNP A C C 2011-2374:2012-1302-T g.chr4:55151585A>C uc003han.3 + 17 2702 c.2371A>C c.(2371-2373)ACT>CCT p.T791P PDGFRA_uc003haa.2_Missense_Mutation_p.T551P NM_006206 NP_006197 CDH9 1007 broad.mit.edu 37 5 26890659 26890659 + Missense_Mutation SNP C T T 2011-2374:2012-1302-T g.chr5:26890659C>T uc003jgs.1 - 8 1437 c.1268G>A c.(1267-1269)CGG>CAG p.R423Q CDH9_uc011cnv.1_Missense_Mutation_p.R16Q NM_016279 NP_057363 PIK3R1 5295 broad.mit.edu 37 5 67569391 67569391 + Intron SNP A C C rs2302974 by1000genomes 2011-2374:2012-1302-T g.chr5:67569391A>C uc003jva.2 + PIK3R1_uc003jvb.2_Intron NM_181523 NP_852664 PCM1 5108 broad.mit.edu 37 8 17843508 17843508 + Missense_Mutation SNP G T T 2011-2374:2012-1302-T g.chr8:17843508G>T uc003wyi.3 + 26 4744 c.4322G>T c.(4321-4323)GGA>GTA p.G1441V PCM1_uc011kyh.1_Missense_Mutation_p.G1441V|PCM1_uc003wyj.3_Missense_Mutation_p.G1387V|PCM1_uc011kyi.1_Missense_Mutation_p.G248V|PCM1_uc011kyj.1_Missense_Mutation_p.G197V|PCM1_uc003wyk.3_Missense_Mutation_p.G123V|PCM1_uc011kyk.1_Missense_Mutation_p.G65V NM_006197 NP_006188 UBR5 51366 broad.mit.edu 37 8 103291056 103291056 + Missense_Mutation SNP C T T 2011-2374:2012-1302-T g.chr8:103291056C>T uc003ykr.1 - 44 6319 c.6286G>A c.(6286-6288)GAG>AAG p.E2096K UBR5_uc003yks.1_Missense_Mutation_p.E2096K NM_015902 NP_056986 CSMD3 114788 broad.mit.edu 37 8 113326586 113326586 + Intron SNP C T T 2011-2374:2012-1302-T g.chr8:113326586C>T uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron|CSMD3_uc003ynw.1_Intron NM_198123 NP_937756 FAM135B 51059 broad.mit.edu 37 8 139165412 139165412 + Missense_Mutation SNP G T T 2011-2374:2012-1302-T g.chr8:139165412G>T uc003yuy.2 - 13 1477 c.1306C>A c.(1306-1308)CCT>ACT p.P436T FAM135B_uc003yux.2_Missense_Mutation_p.P337T|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_5'UTR|FAM135B_uc003yvb.2_5'UTR NM_015912 NP_056996 MEGF6 1953 broad.mit.edu 37 1 3493431 3493431 + Intron SNP C T T 2012-1342:2012-1313-T g.chr1:3493431C>T uc001akl.2 - NM_001409 NP_001400 MEGF6 1953 broad.mit.edu 37 1 3493440 3493440 + Intron SNP C T T rs6657297 2012-1342:2012-1313-T g.chr1:3493440C>T uc001akl.2 - NM_001409 NP_001400 EPHA2 1969 broad.mit.edu 37 1 16461942 16461942 + Intron SNP C T T 2012-1342:2012-1313-T g.chr1:16461942C>T uc001aya.1 - NM_004431 NP_004422 NOTCH2 4853 broad.mit.edu 37 1 120460203 120460203 + Intron SNP G C C 2012-1342:2012-1313-T g.chr1:120460203G>C uc001eik.2 - NM_024408 NP_077719 NOTCH2 4853 broad.mit.edu 37 1 120460218 120460218 + Intron SNP G C C 2012-1342:2012-1313-T g.chr1:120460218G>C uc001eik.2 - NM_024408 NP_077719 NOTCH2 4853 broad.mit.edu 37 1 120461898 120461898 + Intron SNP G A A 2012-1342:2012-1313-T g.chr1:120461898G>A uc001eik.2 - NM_024408 NP_077719 NOTCH2 4853 broad.mit.edu 37 1 120611554 120611555 + Intron DNP TT CG CG rs75248693;rs77254078 2012-1342:2012-1313-T g.chr1:120611554_120611555TT>CG uc001eik.2 - NOTCH2_uc001eil.2_Intron|NOTCH2_uc001eim.3_Intron NM_024408 NP_077719 FLG 2312 broad.mit.edu 37 1 152282324 152282324 + Nonsense_Mutation SNP T A A 2012-1342:2012-1313-T g.chr1:152282324T>A uc001ezu.1 - 3 5074 c.5038A>T c.(5038-5040)AGA>TGA p.R1680* NM_002016 NP_002007 ARHGAP30 257106 broad.mit.edu 37 1 161017939 161017939 + Missense_Mutation SNP G A A 2012-1342:2012-1313-T g.chr1:161017939G>A uc001fxl.2 - 12 3218 c.2872C>T c.(2872-2874)CAT>TAT p.H958Y USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Missense_Mutation_p.H747Y|ARHGAP30_uc001fxm.2_Missense_Mutation_p.H804Y|ARHGAP30_uc009wtx.2_Missense_Mutation_p.H631Y NM_001025598 NP_001020769 DDR2 4921 broad.mit.edu 37 1 162688826 162688826 + Splice_Site SNP G C C 2012-1342:2012-1313-T g.chr1:162688826G>C uc001gcf.2 + 4 439 c.-26_splice c.e4-1 DDR2_uc001gcg.2_Splice_Site NM_001014796 NP_001014796 GPR137B 7107 broad.mit.edu 37 1 236313455 236313455 + Intron SNP C T T 2012-1342:2012-1313-T g.chr1:236313455C>T uc001hxq.2 + NM_003272 NP_003263 NRAP 4892 broad.mit.edu 37 10 115392771 115392771 + Intron SNP G C C 2012-1342:2012-1313-T g.chr10:115392771G>C uc001laj.2 - NRAP_uc001lak.2_Intron|NRAP_uc001lal.3_Intron NM_198060 NP_932326 JAKMIP3 282973 broad.mit.edu 37 10 133973899 133973899 + Intron SNP A G G 2012-1342:2012-1313-T g.chr10:133973899A>G uc001lkx.3 + JAKMIP3_uc009yba.1_Intron NM_001105521 NP_001098991 ETV6 2120 broad.mit.edu 37 12 12006501 12006501 + Intron SNP G A A 2012-1342:2012-1313-T g.chr12:12006501G>A uc001qzz.2 + NM_001987 NP_001978 ABCD2 225 broad.mit.edu 37 12 40014387 40014387 + 5'Flank SNP C G G 2012-1342:2012-1313-T g.chr12:40014387C>G uc001rmb.2 - NM_005164 NP_005155 SYNE2 23224 broad.mit.edu 37 14 64445774 64445774 + Intron SNP C G G 2012-1342:2012-1313-T g.chr14:64445774C>G uc001xgm.2 + SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64488794 64488794 + Intron SNP G A A 2012-1342:2012-1313-T g.chr14:64488794G>A uc001xgm.2 + SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64490898 64490898 + Intron SNP G C C 2012-1342:2012-1313-T g.chr14:64490898G>C uc001xgm.2 + SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64593093 64593093 + Missense_Mutation SNP G C C 2012-1342:2012-1313-T g.chr14:64593093G>C uc001xgm.2 + 72 13833 c.13603G>C c.(13603-13605)GAA>CAA p.E4535Q SYNE2_uc001xgl.2_Missense_Mutation_p.E4535Q|SYNE2_uc010apy.2_Missense_Mutation_p.E920Q|SYNE2_uc010apz.1_Missense_Mutation_p.E427Q NM_015180 NP_055995 TP53 7157 broad.mit.edu 37 17 7578290 7578290 + Splice_Site SNP C A A 2012-1342:2012-1313-T g.chr17:7578290C>A uc002gim.2 - 6 754 c.560_splice c.e6-1 p.G187_splice TP53_uc002gig.1_Splice_Site_p.G187_splice|TP53_uc002gih.2_Splice_Site_p.G187_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.G55_splice|TP53_uc010cng.1_Splice_Site_p.G55_splice|TP53_uc002gii.1_Splice_Site_p.G55_splice|TP53_uc010cnh.1_Splice_Site_p.G187_splice|TP53_uc010cni.1_Splice_Site_p.G187_splice|TP53_uc002gij.2_Splice_Site_p.G187_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.G94_splice|TP53_uc002gio.2_Splice_Site_p.G55_splice|TP53_uc010vug.1_Intron NM_001126112 NP_001119584 CSNK1D 1453 broad.mit.edu 37 17 80211747 80211747 + Intron SNP G A A 2012-1342:2012-1313-T g.chr17:80211747G>A uc002kej.2 - SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Intron|CSNK1D_uc002kei.2_Intron|CSNK1D_uc010wvj.1_Intron|CSNK1D_uc010dil.2_5'Flank|CSNK1D_uc002keh.2_5'UTR|CSNK1D_uc010dim.1_5'Flank NM_001893 NP_001884 PIK3C3 5289 broad.mit.edu 37 18 39534955 39534955 + 5'Flank SNP C G G 2012-1342:2012-1313-T g.chr18:39534955C>G uc002lap.2 + PIK3C3_uc010xcl.1_5'Flank|PIK3C3_uc002lao.2_5'Flank NM_002647 NP_002638 PLIN5 440503 broad.mit.edu 37 19 4525884 4525884 + Intron SNP C A A 2012-1342:2012-1313-T g.chr19:4525884C>A uc002mas.2 - NM_001013706 NP_001013728 DYRK1B 9149 broad.mit.edu 37 19 40321423 40321423 + Missense_Mutation SNP C G G 2012-1342:2012-1313-T g.chr19:40321423C>G uc002omj.2 - 3 344 c.64G>C c.(64-66)GTA>CTA p.V22L DYRK1B_uc002omi.2_Missense_Mutation_p.V22L|DYRK1B_uc002omk.2_Missense_Mutation_p.V22L|DYRK1B_uc002oml.2_Missense_Mutation_p.V22L NM_004714 NP_004705 LRRTM1 347730 broad.mit.edu 37 2 80530585 80530585 + Silent SNP C T T 2012-1342:2012-1313-T g.chr2:80530585C>T uc002sok.1 - 2 630 c.360G>A c.(358-360)CTG>CTA p.L120L CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 INPP4A 3631 broad.mit.edu 37 2 99189293 99189293 + Missense_Mutation SNP G A A 2012-1342:2012-1313-T g.chr2:99189293G>A uc002syy.2 + 24 2942 c.2549G>A c.(2548-2550)CGC>CAC p.R850H INPP4A_uc010yvj.1_Missense_Mutation_p.R811H|INPP4A_uc010yvk.1_Missense_Mutation_p.R811H|INPP4A_uc002syx.2_Missense_Mutation_p.R845H|INPP4A_uc010fik.2_Missense_Mutation_p.R179H NM_001134224 NP_001127696 TTN 7273 broad.mit.edu 37 2 179404502 179404502 + Nonsense_Mutation SNP C A A 2012-1342:2012-1313-T g.chr2:179404502C>A uc010zfg.1 - 301 90810 c.90586G>T c.(90586-90588)GAA>TAA p.E30196* uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E23891*|TTN_uc010zfi.1_Nonsense_Mutation_p.E23824*|TTN_uc010zfj.1_Nonsense_Mutation_p.E23699* NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179425484 179425484 + Missense_Mutation SNP C G G 2012-1342:2012-1313-T g.chr2:179425484C>G uc010zfg.1 - 275 77895 c.77671G>C c.(77671-77673)GAA>CAA p.E25891Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E19586Q|TTN_uc010zfi.1_Missense_Mutation_p.E19519Q|TTN_uc010zfj.1_Missense_Mutation_p.E19394Q NM_133378 NP_596869 XRCC6 2547 broad.mit.edu 37 22 42049456 42049456 + Intron SNP G C C 2012-1342:2012-1313-T g.chr22:42049456G>C uc003bao.1 + XRCC6_uc003bap.1_Intron|XRCC6_uc011apc.1_Intron|XRCC6_uc003baq.1_Intron|XRCC6_uc003bar.1_Intron|XRCC6_uc003bas.1_Intron NM_001469 NP_001460 SULT4A1 25830 broad.mit.edu 37 22 44230966 44230967 + Intron DNP GC AG AG 2012-1342:2012-1313-T g.chr22:44230966_44230967GC>AG uc003bee.1 - SULT4A1_uc003bed.1_Intron|SULT4A1_uc003bef.1_Intron|SULT4A1_uc011aqb.1_Intron NM_014351 NP_055166 SULT4A1 25830 broad.mit.edu 37 22 44230970 44230970 + Intron SNP C A A 2012-1342:2012-1313-T g.chr22:44230970C>A uc003bee.1 - SULT4A1_uc003bed.1_Intron|SULT4A1_uc003bef.1_Intron|SULT4A1_uc011aqb.1_Intron NM_014351 NP_055166 CCR5 1234 broad.mit.edu 37 3 46412259 46412259 + Intron SNP C T T rs1799988 by1000genomes 2012-1342:2012-1313-T g.chr3:46412259C>T uc003cpo.3 + CCR5_uc010hjd.2_5'UTR NM_001100168 NP_001093638 CHCHD6 84303 broad.mit.edu 37 3 126580660 126580660 + Intron SNP A C C 2012-1342:2012-1313-T g.chr3:126580660A>C uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 SI 6476 broad.mit.edu 37 3 164725661 164725661 + Intron SNP A T T 2012-1342:2012-1313-T g.chr3:164725661A>T uc003fei.2 - NM_001041 NP_001032 SI 6476 broad.mit.edu 37 3 164758702 164758702 + Intron SNP T C C 2012-1342:2012-1313-T g.chr3:164758702T>C uc003fei.2 - NM_001041 NP_001032 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G A A rs121913273 2012-1342:2012-1313-T g.chr3:178936082G>A uc003fjk.2 + 10 1781 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 PIK3CA 5290 broad.mit.edu 37 3 178948019 178948019 + Missense_Mutation SNP C T T 2012-1342:2012-1313-T g.chr3:178948019C>T uc003fjk.2 + 20 2948 c.2791C>T c.(2791-2793)CAT>TAT p.H931Y NM_006218 NP_006209 ETV5 2119 broad.mit.edu 37 3 185774875 185774875 + Missense_Mutation SNP C G G 2012-1342:2012-1313-T g.chr3:185774875C>G uc003fpz.2 - 11 1445 c.1198G>C c.(1198-1200)GAA>CAA p.E400Q ETV5_uc003fpy.2_Missense_Mutation_p.E442Q NM_004454 NP_004445 TP63 8626 broad.mit.edu 37 3 189608707 189608707 + Intron SNP C T T 2012-1342:2012-1313-T g.chr3:189608707C>T uc003fry.2 + TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Intron|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Intron NM_003722 NP_003713 GAK 2580 broad.mit.edu 37 4 849893 849893 + Intron SNP C T T 2012-1342:2012-1313-T g.chr4:849893C>T uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibi.2_Intron|GAK_uc010ibj.2_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 FGFR3 2261 broad.mit.edu 37 4 1807751 1807751 + Intron SNP C T T 2012-1342:2012-1313-T g.chr4:1807751C>T uc003gdr.3 + FGFR3_uc003gdu.2_Intron|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Intron NM_000142 NP_000133 KIT 3815 broad.mit.edu 37 4 55561743 55561743 + Missense_Mutation SNP G A A 2012-1342:2012-1313-T g.chr4:55561743G>A uc010igr.2 + 2 220 c.133G>A c.(133-135)GAC>AAC p.D45N KIT_uc010igs.2_Missense_Mutation_p.D45N NM_000222 NP_000213 FBXW7 55294 broad.mit.edu 37 4 153250961 153250961 + Intron SNP G C C 2012-1342:2012-1313-T g.chr4:153250961G>C uc003ims.2 - FBXW7_uc011cii.1_Intron|FBXW7_uc003imt.2_Intron|FBXW7_uc011cih.1_Intron|FBXW7_uc003imq.2_Intron|FBXW7_uc003imr.2_Intron NM_033632 NP_361014 TRIO 7204 broad.mit.edu 37 5 14492600 14492600 + Intron SNP G A A 2012-1342:2012-1313-T g.chr5:14492600G>A uc003jff.2 + TRIO_uc003jfg.2_Intron NM_007118 NP_009049 FAT2 2196 broad.mit.edu 37 5 150901603 150901603 + Silent SNP G C C 2012-1342:2012-1313-T g.chr5:150901603G>C uc003lue.3 - 18 10564 c.10551C>G c.(10549-10551)GTC>GTG p.V3517V GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.V210V NM_001447 NP_001438 RANBP17 64901 broad.mit.edu 37 5 170722917 170722917 + Missense_Mutation SNP G T T 2012-1342:2012-1313-T g.chr5:170722917G>T uc003mba.2 + 27 3085 c.3069G>T c.(3067-3069)TTG>TTT p.L1023F RANBP17_uc003mbb.2_Missense_Mutation_p.L348F|RANBP17_uc010jjs.2_RNA NM_022897 NP_075048 HLA-A 3105 broad.mit.edu 37 6 29911540 29911540 + Intron SNP G A A 2012-1342:2012-1313-T g.chr6:29911540G>A uc003nol.2 + HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Intron|HLA-A_uc003nok.2_Intron|HLA-A_uc003non.2_Intron|HLA-A_uc003noo.2_Intron|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_Intron|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_Intron|HLA-A_uc011dmd.1_Intron NM_002116 NP_002107 HLA-E 3133 broad.mit.edu 37 6 30457609 30457609 + Silent SNP C T T 2012-1342:2012-1313-T g.chr6:30457609C>T uc003nqg.2 + 2 209 c.171C>T c.(169-171)TTC>TTT p.F57F HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Silent_p.F98F NM_005516 NP_005507 SYNE1 23345 broad.mit.edu 37 6 152523064 152523064 + Missense_Mutation SNP T A A 2012-1342:2012-1313-T g.chr6:152523064T>A uc010kiw.2 - 127 23642 c.23040A>T c.(23038-23040)AAA>AAT p.K7680N SYNE1_uc010kiv.2_Missense_Mutation_p.K2204N|SYNE1_uc003qos.3_Missense_Mutation_p.K2204N|SYNE1_uc003qot.3_Missense_Mutation_p.K7609N|SYNE1_uc003qou.3_Missense_Mutation_p.K7680N|SYNE1_uc003qor.3_Missense_Mutation_p.K580N NM_182961 NP_892006 SMOC2 64094 broad.mit.edu 37 6 169015226 169015226 + Intron SNP C T T rs10945527 2012-1342:2012-1313-T g.chr6:169015226C>T uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 PCLO 27445 broad.mit.edu 37 7 82546210 82546210 + Intron SNP T C C 2012-1342:2012-1313-T g.chr7:82546210T>C uc003uhx.2 - PCLO_uc003uhv.2_Intron|PCLO_uc010lec.2_Intron NM_033026 NP_149015 ZNF804B 219578 broad.mit.edu 37 7 88388490 88388490 + 5'Flank SNP G T T 2012-1342:2012-1313-T g.chr7:88388490G>T uc011khi.1 + NM_181646 NP_857597 ZFHX4 79776 broad.mit.edu 37 8 77761754 77761754 + Missense_Mutation SNP C G G 2012-1342:2012-1313-T g.chr8:77761754C>G uc003yav.2 + 8 3904 c.3517C>G c.(3517-3519)CAA>GAA p.Q1173E ZFHX4_uc003yau.1_Missense_Mutation_p.Q1218E|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q1173E NM_024721 NP_078997 PKHD1L1 93035 broad.mit.edu 37 8 110447418 110447418 + Splice_Site SNP G C C 2012-1342:2012-1313-T g.chr8:110447418G>C uc003yne.2 + 29 3445 c.3341_splice c.e29-1 p.E1114_splice NM_177531 NP_803875 ZFP41 286128 broad.mit.edu 37 8 144342275 144342275 + 3'UTR SNP C T T 2012-1342:2012-1313-T g.chr8:144342275C>T uc003yxw.2 + 3 ZFP41_uc003yxv.2_Intron NM_173832 NP_776193 PARP10 84875 broad.mit.edu 37 8 145055754 145055754 + Intron SNP G A A 2012-1342:2012-1313-T g.chr8:145055754G>A uc003zal.3 - PARP10_uc003zak.3_Intron|PARP10_uc011lku.1_Intron|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Intron NM_032789 NP_116178 PHKA2 5256 broad.mit.edu 37 X 18938109 18938109 + Intron SNP T C C 2012-1342:2012-1313-T g.chrX:18938109T>C uc004cyv.3 - PHKA2_uc004cyu.3_Intron NM_000292 NP_000283 PHKA2 5256 broad.mit.edu 37 X 18947334 18947334 + Intron SNP A T T 2012-1342:2012-1313-T g.chrX:18947334A>T uc004cyv.3 - PHKA2_uc010nfg.1_5'Flank NM_000292 NP_000283 FAAH2 158584 broad.mit.edu 37 X 57313086 57313086 + 5'Flank SNP C G G 2012-1342:2012-1313-T g.chrX:57313086C>G uc004dvc.2 + NM_174912 NP_777572 GPR174 84636 broad.mit.edu 37 X 78427403 78427403 + Missense_Mutation SNP G A A 2012-1342:2012-1313-T g.chrX:78427403G>A uc004edg.1 + 1 935 c.899G>A c.(898-900)CGA>CAA p.R300Q NM_032553 NP_115942 HDX 139324 broad.mit.edu 37 X 83723520 83723520 + Missense_Mutation SNP G A A 2012-1342:2012-1313-T g.chrX:83723520G>A uc004eek.1 - 3 1320 c.1211C>T c.(1210-1212)TCA>TTA p.S404L HDX_uc011mqv.1_Missense_Mutation_p.S404L|HDX_uc004eel.1_Missense_Mutation_p.S346L NM_144657 NP_653258 NOTCH2 4853 broad.mit.edu 37 1 120611554 120611555 + Intron DNP TT CG CG rs75248693;rs77254078 2012-1343:2012-1314-T g.chr1:120611554_120611555TT>CG uc001eik.2 - NOTCH2_uc001eil.2_Intron|NOTCH2_uc001eim.3_Intron NM_024408 NP_077719 USH2A 7399 broad.mit.edu 37 1 216074046 216074046 + Intron SNP T C C 2012-1343:2012-1314-T g.chr1:216074046T>C uc001hku.1 - NM_206933 NP_996816 SMYD3 64754 broad.mit.edu 37 1 246140201 246140201 + Intron SNP G A A 2012-1343:2012-1314-T g.chr1:246140201G>A uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 SMYD3 64754 broad.mit.edu 37 1 246140231 246140231 + Intron SNP A G G 2012-1343:2012-1314-T g.chr1:246140231A>G uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 GPR123 84435 broad.mit.edu 37 10 134891843 134891843 + Intron SNP C T T 2012-1343:2012-1314-T g.chr10:134891843C>T uc001llw.2 + GPR123 84435 broad.mit.edu 37 10 134924928 134924928 + Intron SNP A G G 2012-1343:2012-1314-T g.chr10:134924928A>G uc001llx.3 + GPR123_uc001llw.2_Intron NM_001083909 NP_001077378 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C T T rs121913529 2012-1343:2012-1314-T g.chr12:25398284C>T uc001rgp.1 - 2 216 c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 GALNT9 50614 broad.mit.edu 37 12 132880856 132880856 + Intron SNP C G G 2012-1343:2012-1314-T g.chr12:132880856C>G uc001ukc.3 - GALNT9_uc009zys.2_Intron NM_001122636 NP_001116108 ATP11A 23250 broad.mit.edu 37 13 113527587 113527587 + Intron SNP T C C 2012-1343:2012-1314-T g.chr13:113527587T>C uc001vsi.3 + ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_Intron NM_015205 NP_056020 RIN3 79890 broad.mit.edu 37 14 93106239 93106239 + Intron SNP G A A 2012-1343:2012-1314-T g.chr14:93106239G>A uc001yap.2 + RIN3_uc010auk.2_Intron|RIN3_uc001yaq.2_Intron NM_024832 NP_079108 TRAF3 7187 broad.mit.edu 37 14 103336517 103336517 + Intron SNP G A A 2012-1343:2012-1314-T g.chr14:103336517G>A uc001ymc.1 + TRAF3_uc001yme.1_Intron|TRAF3_uc001ymd.1_Intron|TRAF3_uc010txy.1_Intron NM_145725 NP_663777 SECTM1 6398 broad.mit.edu 37 17 80291475 80291475 + Intron SNP G A A rs59734194 by1000genomes 2012-1343:2012-1314-T g.chr17:80291475G>A uc002keo.2 - SECTM1_uc002kep.2_Intron NM_003004 NP_002995 PIAS4 51588 broad.mit.edu 37 19 4011859 4011859 + Intron SNP T G G 2012-1343:2012-1314-T g.chr19:4011859T>G uc002lzg.2 + NM_015897 NP_056981 SNTG2 54221 broad.mit.edu 37 2 1163611 1163611 + Intron SNP C T T 2012-1343:2012-1314-T g.chr2:1163611C>T uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 TTN 7273 broad.mit.edu 37 2 179444717 179444717 + Missense_Mutation SNP C G G 2012-1343:2012-1314-T g.chr2:179444717C>G uc010zfg.1 - 267 59817 c.59593G>C c.(59593-59595)GAG>CAG p.E19865Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E13560Q|TTN_uc010zfi.1_Missense_Mutation_p.E13493Q|TTN_uc010zfj.1_Missense_Mutation_p.E13368Q|uc002umv.1_3'UTR NM_133378 NP_596869 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 2012-1343:2012-1314-T g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 MUC4 4585 broad.mit.edu 37 3 195502489 195502489 + Intron SNP A C C rs71977427 2012-1343:2012-1314-T g.chr3:195502489A>C uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 FAM134B 54463 broad.mit.edu 37 5 16535761 16535761 + Intron SNP C T T 2012-1343:2012-1314-T g.chr5:16535761C>T uc003jfs.2 - NM_001034850 NP_001030022 RASA1 5921 broad.mit.edu 37 5 86672416 86672416 + Intron SNP G A A 2012-1343:2012-1314-T g.chr5:86672416G>A uc003kiw.2 + RASA1_uc010jav.2_Intron|RASA1_uc003kix.2_Intron|RASA1_uc011ctv.1_Intron|RASA1_uc011ctw.1_Intron|RASA1_uc010jaw.2_Intron NM_002890 NP_002881 ADAMTS2 9509 broad.mit.edu 37 5 178561750 178561750 + Intron SNP C T T 2012-1343:2012-1314-T g.chr5:178561750C>T uc003mjw.2 - NM_014244 NP_055059 SMOC2 64094 broad.mit.edu 37 6 168939041 168939041 + Intron SNP T G G 2012-1343:2012-1314-T g.chr6:168939041T>G uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 PRKAR1B 5575 broad.mit.edu 37 7 628234 628234 + Intron SNP G A A 2012-1343:2012-1314-T g.chr7:628234G>A uc003siu.1 - PRKAR1B_uc003siv.2_Intron|PRKAR1B_uc003siw.1_Intron|PRKAR1B_uc003six.1_Intron NM_002735 NP_002726 PRKAR1B 5575 broad.mit.edu 37 7 628237 628237 + Intron SNP G A A 2012-1343:2012-1314-T g.chr7:628237G>A uc003siu.1 - PRKAR1B_uc003siv.2_Intron|PRKAR1B_uc003siw.1_Intron|PRKAR1B_uc003six.1_Intron NM_002735 NP_002726 PRKAR1B 5575 broad.mit.edu 37 7 628240 628240 + Intron SNP A G G rs28687262 2012-1343:2012-1314-T g.chr7:628240A>G uc003siu.1 - PRKAR1B_uc003siv.2_Intron|PRKAR1B_uc003siw.1_Intron|PRKAR1B_uc003six.1_Intron NM_002735 NP_002726 ZFP41 286128 broad.mit.edu 37 8 144342202 144342202 + 3'UTR SNP G C C 2012-1343:2012-1314-T g.chr8:144342202G>C uc003yxw.2 + 3 ZFP41_uc003yxv.2_Intron NM_173832 NP_776193 HDX 139324 broad.mit.edu 37 X 83757817 83757817 + 5'Flank SNP G A A rs2294339 by1000genomes 2012-1343:2012-1314-T g.chrX:83757817G>A uc004eek.1 - HDX_uc011mqv.1_5'Flank|HDX_uc004eel.1_5'Flank NM_144657 NP_653258 SH3RF3 344558 broad.mit.edu 37 2 109815960 109815960 + Intron SNP G A A 2012-1344:2012-1315-T g.chr2:109815960G>A uc010ywt.1 + NM_001099289 NP_001092759 FBLN7 129804 broad.mit.edu 37 2 112897409 112897409 + Intron SNP T C C 2012-1344:2012-1315-T g.chr2:112897409T>C uc002tho.1 + FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Intron|FBLN7_uc010fkj.1_Intron NM_153214 NP_694946 C20orf26 26074 broad.mit.edu 37 20 20337827 20337827 + Intron SNP T G G 2012-1344:2012-1315-T g.chr20:20337827T>G uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 DSCAM 1826 broad.mit.edu 37 21 41741260 41741260 + Intron SNP C T T 2012-1344:2012-1315-T g.chr21:41741260C>T uc002yyq.1 - DSCAM_uc002yyr.1_Intron NM_001389 NP_001380 HSCB 150274 broad.mit.edu 37 22 29138090 29138090 + Missense_Mutation SNP C T T 2012-1344:2012-1315-T g.chr22:29138090C>T uc003aea.2 + 1 48 c.7C>T c.(7-9)CGG>TGG p.R3W CHEK2_uc003adt.1_5'Flank|CHEK2_uc003adu.1_5'Flank|CHEK2_uc003adv.1_5'Flank|CHEK2_uc003adw.1_5'Flank|CHEK2_uc003adx.1_5'Flank|CHEK2_uc003ady.1_5'Flank|CHEK2_uc003adz.1_5'Flank NM_172002 NP_741999 TP63 8626 broad.mit.edu 37 3 189582249 189582249 + Intron SNP G A A rs2276792 byFrequency;by1000genomes 2012-1344:2012-1315-T g.chr3:189582249G>A uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsa.2_Intron|TP63_uc003fsb.2_Intron|TP63_uc003fsc.2_Intron|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Intron NM_003722 NP_003713 MUC4 4585 broad.mit.edu 37 3 195498249 195498249 + Intron SNP G A A rs13087854 2012-1344:2012-1315-T g.chr3:195498249G>A uc011bto.1 - MUC4_uc003fuz.2_Intron|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 FAM53A 152877 broad.mit.edu 37 4 1672871 1672871 + Intron SNP G A A rs113105231 2012-1344:2012-1315-T g.chr4:1672871G>A uc011bve.1 - FAM53A_uc010ibw.2_Intron NM_001013622 NP_001013644 UNC5C 8633 broad.mit.edu 37 4 96113823 96113823 + Intron SNP A C C 2012-1344:2012-1315-T g.chr4:96113823A>C uc003htp.1 - UNC5C_uc010ilc.1_Intron NM_003728 NP_003719 ADAMTS12 81792 broad.mit.edu 37 5 33648906 33648906 + Intron SNP G C C rs6870538 by1000genomes 2012-1344:2012-1315-T g.chr5:33648906G>C uc003jia.1 - ADAMTS12_uc010iuq.1_Intron NM_030955 NP_112217 HLA-B 3106 broad.mit.edu 37 6 31323838 31323838 + Intron SNP C G G rs2596494 byFrequency;by1000genomes 2012-1344:2012-1315-T g.chr6:31323838C>G uc003nth.2 - HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Intron|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_RNA|HLA-B_uc010jso.2_3'UTR NM_005514 NP_005505 PRDM16 63976 broad.mit.edu 37 1 3296494 3296494 + Intron SNP G A A 2012-1347:2012-1316-T g.chr1:3296494G>A uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 MACF1 23499 broad.mit.edu 37 1 39802251 39802251 + Nonsense_Mutation SNP C T T 2012-1347:2012-1316-T g.chr1:39802251C>T uc010oiu.1 + 1 5442 c.5311C>T c.(5311-5313)CAA>TAA p.Q1771* MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 PIK3R3 8503 broad.mit.edu 37 1 46511830 46511830 + Intron SNP C T T 2012-1347:2012-1316-T g.chr1:46511830C>T uc001cpb.3 - PIK3R3_uc009vyb.2_Intron|PIK3R3_uc009vyc.2_Intron|PIK3R3_uc001cpc.3_Intron|PIK3R3_uc010olw.1_Intron|PIK3R3_uc010olv.1_Intron NM_003629 NP_003620 NOTCH2 4853 broad.mit.edu 37 1 120611555 120611555 + Intron SNP T G G rs77254078 2012-1347:2012-1316-T g.chr1:120611555T>G uc001eik.2 - NOTCH2_uc001eil.2_Intron|NOTCH2_uc001eim.3_Intron NM_024408 NP_077719 ADARB2 105 broad.mit.edu 37 10 1369881 1369881 + Intron SNP A C C 2012-1347:2012-1316-T g.chr10:1369881A>C uc009xhq.2 - NM_018702 NP_061172 KNDC1 85442 broad.mit.edu 37 10 134998772 134998772 + Intron SNP G C C rs111954081 2012-1347:2012-1316-T g.chr10:134998772G>C uc001llz.1 + KNDC1_uc001lma.1_Intron NM_152643 NP_689856 AHNAK 79026 broad.mit.edu 37 11 62292080 62292080 + Missense_Mutation SNP T C C 2012-1347:2012-1316-T g.chr11:62292080T>C uc001ntl.2 - 5 10109 c.9809A>G c.(9808-9810)CAT>CGT p.H3270R AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 MTA2 9219 broad.mit.edu 37 11 62361211 62361211 + 3'UTR SNP C T T 2012-1347:2012-1316-T g.chr11:62361211C>T uc001ntq.1 - 18 TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_3'UTR NM_004739 NP_004730 VWA5A 4013 broad.mit.edu 37 11 124015999 124015999 + Missense_Mutation SNP A T T 2012-1347:2012-1316-T g.chr11:124015999A>T uc001pzu.2 + 18 2419 c.2210A>T c.(2209-2211)AAT>ATT p.N737I VWA5A_uc001pzt.2_Missense_Mutation_p.N737I NM_001130142 NP_001123614 SLC7A1 6541 broad.mit.edu 37 13 30133348 30133348 + Intron SNP G C C 2012-1347:2012-1316-T g.chr13:30133348G>C uc001uso.2 - NM_003045 NP_003036 SLC7A1 6541 broad.mit.edu 37 13 30133409 30133409 + Intron SNP G C C 2012-1347:2012-1316-T g.chr13:30133409G>C uc001uso.2 - NM_003045 NP_003036 F7 2155 broad.mit.edu 37 13 113762032 113762032 + Intron SNP C A A 2012-1347:2012-1316-T g.chr13:113762032C>A uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 F7 2155 broad.mit.edu 37 13 113762508 113762508 + Intron SNP C T T 2012-1347:2012-1316-T g.chr13:113762508C>T uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 PROZ 8858 broad.mit.edu 37 13 113816561 113816561 + Intron SNP C T T 2012-1347:2012-1316-T g.chr13:113816561C>T uc001vta.1 + PROZ_uc010agr.1_Intron NM_003891 NP_003882 NRXN3 9369 broad.mit.edu 37 14 79723863 79723863 + Intron SNP G A A 2012-1347:2012-1316-T g.chr14:79723863G>A uc001xun.2 + NRXN3_uc001xum.1_Intron NM_004796 NP_004787 ANXA2 302 broad.mit.edu 37 15 60642124 60642124 + Intron SNP G A A 2012-1347:2012-1316-T g.chr15:60642124G>A uc002agn.2 - ANXA2_uc002agk.2_Intron|ANXA2_uc002agl.2_Intron|ANXA2_uc002agm.2_Intron|ANXA2_uc010uhd.1_Intron NM_001136015 NP_001129487 P2RX5 5026 broad.mit.edu 37 17 3583693 3583693 + Intron SNP A G G rs145451602 by1000genomes 2012-1347:2012-1316-T g.chr17:3583693A>G uc002fwi.2 - P2RX5_uc002fwd.2_Intron|P2RX5_uc002fwh.1_Intron|P2RX5_uc010vrx.1_Intron|P2RX5_uc002fwj.2_Intron|P2RX5_uc002fwk.2_Intron|P2RX5_uc002fwl.2_Intron NM_002561 NP_002552 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C T T rs28934578 2012-1347:2012-1316-T g.chr17:7578406C>T uc002gim.2 - 5 718 c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H NM_001126112 NP_001119584 ABCA6 23460 broad.mit.edu 37 17 67099063 67099063 + Missense_Mutation SNP T C C 2012-1347:2012-1316-T g.chr17:67099063T>C uc002jhw.1 - 21 2962 c.2787A>G c.(2785-2787)ATA>ATG p.I929M NM_080284 NP_525023 MBP 4155 broad.mit.edu 37 18 74748685 74748685 + Intron SNP C T T 2012-1347:2012-1316-T g.chr18:74748685C>T uc010xfd.1 - MBP_uc002lmr.2_Intron NM_001025101 NP_001020272 SMARCA4 6597 broad.mit.edu 37 19 11105550 11105550 + Missense_Mutation SNP A G G 2012-1347:2012-1316-T g.chr19:11105550A>G uc002mqf.3 + 9 1750 c.1466A>G c.(1465-1467)TAT>TGT p.Y489C SMARCA4_uc010dxp.2_Missense_Mutation_p.Y489C|SMARCA4_uc010dxo.2_Missense_Mutation_p.Y489C|SMARCA4_uc002mqg.1_Missense_Mutation_p.Y489C|SMARCA4_uc010dxq.2_Missense_Mutation_p.Y489C|SMARCA4_uc010dxr.2_Missense_Mutation_p.Y489C|SMARCA4_uc002mqj.3_Missense_Mutation_p.Y489C|SMARCA4_uc010dxs.2_Missense_Mutation_p.Y489C|SMARCA4_uc002mqe.2_Missense_Mutation_p.Y489C NM_003072 NP_003063 NLRP11 204801 broad.mit.edu 37 19 56300357 56300357 + Intron SNP G T T 2012-1347:2012-1316-T g.chr19:56300357G>T uc010ygf.1 - NLRP11_uc002qlz.2_Intron|NLRP11_uc002qmb.2_Intron|NLRP11_uc002qmc.2_Intron NM_145007 NP_659444 ZNF787 126208 broad.mit.edu 37 19 56617322 56617322 + Intron SNP C G G 2012-1347:2012-1316-T g.chr19:56617322C>G uc010eth.1 - ZNF787_uc002qml.1_Intron NM_001002836 NP_001002836 RMND5A 64795 broad.mit.edu 37 2 87644396 87644396 + Intron SNP G A A 2012-1347:2012-1316-T g.chr2:87644396G>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87645311 87645311 + Intron SNP T A A rs147712184 by1000genomes 2012-1347:2012-1316-T g.chr2:87645311T>A uc002srs.3 + BAGE2 85319 broad.mit.edu 37 21 11040737 11040737 + Intron SNP G A A 2012-1347:2012-1316-T g.chr21:11040737G>A uc002yit.1 - TPTE_uc002yis.1_5'Flank NM_182482 NP_872288 COL18A1 80781 broad.mit.edu 37 21 46863006 46863006 + Intron SNP A G G 2012-1347:2012-1316-T g.chr21:46863006A>G uc002zhg.2 + NM_130445 NP_569712 TNK2 10188 broad.mit.edu 37 3 195597778 195597778 + Intron SNP C A A 2012-1347:2012-1316-T g.chr3:195597778C>A uc003fvu.1 - TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Intron|TNK2_uc003fvs.1_Intron|TNK2_uc003fvt.1_Intron|TNK2_uc010hzw.1_Intron|TNK2_uc003fvv.1_Intron NM_005781 NP_005772 GAK 2580 broad.mit.edu 37 4 907739 907739 + Intron SNP C T T rs113111386 2012-1347:2012-1316-T g.chr4:907739C>T uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_Intron|GAK_uc003gbl.3_5'Flank NM_005255 NP_005246 GAK 2580 broad.mit.edu 37 4 907759 907759 + Intron SNP G A A 2012-1347:2012-1316-T g.chr4:907759G>A uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_Intron|GAK_uc003gbl.3_5'Flank NM_005255 NP_005246 INPP4B 8821 broad.mit.edu 37 4 143767288 143767288 + Intron SNP G T T rs6846609 by1000genomes 2012-1347:2012-1316-T g.chr4:143767288G>T uc003iix.3 - INPP4B_uc003iiw.3_Intron NM_003866 NP_003857 SORBS2 8470 broad.mit.edu 37 4 186717994 186717994 + Intron SNP G A A 2012-1347:2012-1316-T g.chr4:186717994G>A uc003iyl.2 - SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Intron|SORBS2_uc011cky.1_Intron|SORBS2_uc003iyp.2_Intron NM_021069 NP_066547 HIST1H3D 8351 broad.mit.edu 37 6 26199598 26199598 + 5'Flank SNP A G G 2012-1347:2012-1316-T g.chr6:26199598A>G uc003ngv.2 - HIST1H2AD_uc003ngw.2_5'Flank|HIST1H2BF_uc003ngx.2_5'Flank NM_003530 NP_003521 HLA-B 3106 broad.mit.edu 37 6 31239869 31239869 + Intron SNP T C C rs76486597 2012-1347:2012-1316-T g.chr6:31239869T>C uc003ntf.2 - HLA-C_uc011dnj.1_5'Flank|HLA-C_uc003nsx.2_5'Flank|HLA-C_uc003nsy.2_5'Flank|HLA-C_uc003nsz.2_5'Flank|HLA-C_uc010jsl.2_5'Flank|HLA-C_uc003nta.2_5'Flank|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_5'Flank HLA-B 3106 broad.mit.edu 37 6 31323838 31323838 + Intron SNP C G G rs2596494 byFrequency;by1000genomes 2012-1347:2012-1316-T g.chr6:31323838C>G uc003nth.2 - HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Intron|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_RNA|HLA-B_uc010jso.2_3'UTR NM_005514 NP_005505 PIK3CG 5294 broad.mit.edu 37 7 106506178 106506178 + Intron SNP C T T 2012-1347:2012-1316-T g.chr7:106506178C>T uc003vdv.3 + PIK3CG_uc003vdu.2_Intron|PIK3CG_uc003vdw.2_5'UTR NM_002649 NP_002640 DPYS 1807 broad.mit.edu 37 8 105459793 105459793 + Intron SNP C A A rs7821992 by1000genomes 2012-1347:2012-1316-T g.chr8:105459793C>A uc003yly.3 - NM_001385 NP_001376 NOTCH1 4851 broad.mit.edu 37 9 139411880 139411880 + Intron SNP G A A rs9411254 by1000genomes 2012-1347:2012-1316-T g.chr9:139411880G>A uc004chz.2 - NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139412744 139412744 + Missense_Mutation SNP C T T 2012-1347:2012-1316-T g.chr9:139412744C>T uc004chz.2 - 7 1100 c.1100G>A c.(1099-1101)GGT>GAT p.G367D NM_017617 NP_060087 ABCA4 24 broad.mit.edu 37 1 94463633 94463633 + Silent SNP G A A 2012-1348:2012-1317-T g.chr1:94463633G>A uc001dqh.2 - 48 6617 c.6513C>T c.(6511-6513)ATC>ATT p.I2171I NM_000350 NP_000341 COL11A1 1301 broad.mit.edu 37 1 103352519 103352519 + Missense_Mutation SNP T C C 2012-1348:2012-1317-T g.chr1:103352519T>C uc001dul.2 - 63 5020 c.4702A>G c.(4702-4704)AAT>GAT p.N1568D COL11A1_uc001duk.2_Missense_Mutation_p.N764D|COL11A1_uc001dum.2_Missense_Mutation_p.N1580D|COL11A1_uc001dun.2_Missense_Mutation_p.N1529D|COL11A1_uc009weh.2_Missense_Mutation_p.N1452D NM_001854 NP_001845 ASH1L 55870 broad.mit.edu 37 1 155449638 155449638 + Nonsense_Mutation SNP G C C 2012-1348:2012-1317-T g.chr1:155449638G>C uc009wqq.2 - 3 3503 c.3023C>G c.(3022-3024)TCA>TGA p.S1008* ASH1L_uc001fkt.2_Nonsense_Mutation_p.S1008*|ASH1L_uc009wqr.1_Nonsense_Mutation_p.S1008* NM_018489 NP_060959 NOS1AP 9722 broad.mit.edu 37 1 162325192 162325192 + Intron SNP G A A 2012-1348:2012-1317-T g.chr1:162325192G>A uc001gbv.2 + NOS1AP_uc010pkr.1_Intron|NOS1AP_uc010pks.1_Intron|NOS1AP_uc001gbw.2_Intron NM_014697 NP_055512 USH2A 7399 broad.mit.edu 37 1 215853372 215853372 + Intron SNP C G G 2012-1348:2012-1317-T g.chr1:215853372C>G uc001hku.1 - NM_206933 NP_996816 ADARB2 105 broad.mit.edu 37 10 1370096 1370096 + Intron SNP C G G rs12413294 by1000genomes 2012-1348:2012-1317-T g.chr10:1370096C>G uc009xhq.2 - NM_018702 NP_061172 NRAP 4892 broad.mit.edu 37 10 115373928 115373928 + Intron SNP C T T 2012-1348:2012-1317-T g.chr10:115373928C>T uc001laj.2 - NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Intron|NRAP_uc001lal.3_Intron NM_198060 NP_932326 OR51S1 119692 broad.mit.edu 37 11 4869944 4869944 + Silent SNP C A A 2012-1348:2012-1317-T g.chr11:4869944C>A uc010qyo.1 - 1 495 c.495G>T c.(493-495)CTG>CTT p.L165L NM_001004758 NP_001004758 TSPAN9 10867 broad.mit.edu 37 12 3377787 3377787 + Intron SNP C T T 2012-1348:2012-1317-T g.chr12:3377787C>T uc001qlp.2 + NM_006675 NP_006666 KRAS 3845 broad.mit.edu 37 12 25398281 25398281 + Missense_Mutation SNP C T T rs112445441 2012-1348:2012-1317-T g.chr12:25398281C>T uc001rgp.1 - 2 219 c.38G>A c.(37-39)GGC>GAC p.G13D KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 LRRK2 120892 broad.mit.edu 37 12 40692188 40692188 + Silent SNP G T T 2012-1348:2012-1317-T g.chr12:40692188G>T uc001rmg.3 + 24 3361 c.3240G>T c.(3238-3240)GTG>GTT p.V1080V LRRK2_uc001rmh.1_Silent_p.V702V|LRRK2_uc009zjw.2_5'UTR NM_198578 NP_940980 MLL2 8085 broad.mit.edu 37 12 49431790 49431790 + Nonsense_Mutation SNP C A A 2012-1348:2012-1317-T g.chr12:49431790C>A uc001rta.3 - 34 9349 c.9349G>T c.(9349-9351)GAG>TAG p.E3117* NM_003482 NP_003473 RARG 5916 broad.mit.edu 37 12 53608378 53608378 + Missense_Mutation SNP T A A 2012-1348:2012-1317-T g.chr12:53608378T>A uc001sce.2 - 6 973 c.488A>T c.(487-489)GAC>GTC p.D163V RARG_uc001scd.2_Missense_Mutation_p.D152V|RARG_uc010sob.1_Missense_Mutation_p.D141V|RARG_uc001scf.2_Missense_Mutation_p.D163V|RARG_uc001scg.2_Missense_Mutation_p.D91V|RARG_uc010soc.1_Missense_Mutation_p.D42V|RARG_uc010sod.1_Missense_Mutation_p.D200V NM_000966 NP_000957 TFDP1 7027 broad.mit.edu 37 13 114271874 114271874 + Intron SNP A G G 2012-1348:2012-1317-T g.chr13:114271874A>G uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 DICER1 23405 broad.mit.edu 37 14 95595663 95595663 + Intron SNP T C C rs116217403 by1000genomes 2012-1348:2012-1317-T g.chr14:95595663T>C uc001ydw.2 - DICER1_uc001ydv.2_Intron|DICER1_uc001ydx.2_Intron NM_030621 NP_085124 DICER1 23405 broad.mit.edu 37 14 95598987 95598987 + Missense_Mutation SNP G A A 2012-1348:2012-1317-T g.chr14:95598987G>A uc001ydw.2 - 4 354 c.172C>T c.(172-174)CAT>TAT p.H58Y DICER1_uc001ydv.2_Missense_Mutation_p.H48Y|DICER1_uc001ydx.2_Missense_Mutation_p.H58Y|DICER1_uc001ydz.1_RNA|DICER1_uc001yea.1_RNA|DICER1_uc001yeb.1_RNA NM_030621 NP_085124 BAIAP3 8938 broad.mit.edu 37 16 1390187 1390187 + Intron SNP C T T 2012-1348:2012-1317-T g.chr16:1390187C>T uc002clk.1 + BAIAP3_uc002clj.2_Intron|BAIAP3_uc010uuz.1_Intron|BAIAP3_uc010uva.1_Intron|BAIAP3_uc010uvb.1_Intron|BAIAP3_uc010uvc.1_Intron NM_003933 NP_003924 ZFPM1 161882 broad.mit.edu 37 16 88567845 88567845 + Intron SNP G A A 2012-1348:2012-1317-T g.chr16:88567845G>A uc002fkv.2 + NM_153813 NP_722520 FANCA 2175 broad.mit.edu 37 16 89857868 89857868 + Silent SNP C A A 2012-1348:2012-1317-T g.chr16:89857868C>A uc002fou.1 - 14 1344 c.1302G>T c.(1300-1302)GTG>GTT p.V434V FANCA_uc010vpn.1_Silent_p.V434V NM_000135 NP_000126 FANCA 2175 broad.mit.edu 37 16 89871773 89871774 + Missense_Mutation DNP CG AT AT rs144420697 byFrequency;by1000genomes 2012-1348:2012-1317-T g.chr16:89871773_89871774CG>AT uc002fou.1 - 7 665_666 c.623_624CG>AT c.(622-624)TCG>TAT p.S208Y FANCA_uc010vpn.1_Missense_Mutation_p.S208Y|FANCA_uc002fov.1_Missense_Mutation_p.S191Y|FANCA_uc002fow.1_Missense_Mutation_p.S208Y|FANCA_uc002fox.1_Missense_Mutation_p.S208Y|FANCA_uc010ciu.1_Missense_Mutation_p.S176Y|FANCA_uc002foy.2_Missense_Mutation_p.S208Y NM_000135 NP_000126 TP53 7157 broad.mit.edu 37 17 7577509 7577509 + Missense_Mutation SNP C T T rs121912652 2012-1348:2012-1317-T g.chr17:7577509C>T uc002gim.2 - 7 966 c.772G>A c.(772-774)GAA>AAA p.E258K TP53_uc002gig.1_Missense_Mutation_p.E258K|TP53_uc002gih.2_Missense_Mutation_p.E258K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E126K|TP53_uc010cng.1_Missense_Mutation_p.E126K|TP53_uc002gii.1_Missense_Mutation_p.E126K|TP53_uc010cnh.1_Missense_Mutation_p.E258K|TP53_uc010cni.1_Missense_Mutation_p.E258K|TP53_uc002gij.2_Missense_Mutation_p.E258K|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.E165K|TP53_uc002gio.2_Missense_Mutation_p.E126K NM_001126112 NP_001119584 MYH8 4626 broad.mit.edu 37 17 10304913 10304913 + Missense_Mutation SNP G T T 2012-1348:2012-1317-T g.chr17:10304913G>T uc002gmm.2 - 23 2973 c.2878C>A c.(2878-2880)CTT>ATT p.L960I uc002gml.1_Intron NM_002472 NP_002463 MED1 5469 broad.mit.edu 37 17 37584078 37584078 + Intron SNP C T T 2012-1348:2012-1317-T g.chr17:37584078C>T uc002hrv.3 - MED1_uc010wee.1_Intron|MED1_uc002hru.2_Intron NM_004774 NP_004765 PHLPP1 23239 broad.mit.edu 37 18 60645786 60645786 + Missense_Mutation SNP G A A 2012-1348:2012-1317-T g.chr18:60645786G>A uc002lis.2 + 18 2918 c.2740G>A c.(2740-2742)GAG>AAG p.E914K NM_194449 NP_919431 SFRS14 10147 broad.mit.edu 37 19 19136438 19136438 + Missense_Mutation SNP C A A 2012-1348:2012-1317-T g.chr19:19136438C>A uc002nkx.2 - 3 865 c.719G>T c.(718-720)GGT>GTT p.G240V SFRS14_uc002nkz.1_Missense_Mutation_p.G254V|SFRS14_uc002nla.1_Missense_Mutation_p.G240V|SFRS14_uc002nlb.2_Missense_Mutation_p.G240V|SFRS14_uc010xqk.1_Intron NM_014884 NP_055699 ALLC 55821 broad.mit.edu 37 2 3720294 3720294 + Intron SNP T C C 2012-1348:2012-1317-T g.chr2:3720294T>C uc010ewt.2 + NM_018436 NP_060906 LRRTM1 347730 broad.mit.edu 37 2 80530526 80530526 + Missense_Mutation SNP C T T 2012-1348:2012-1317-T g.chr2:80530526C>T uc002sok.1 - 2 689 c.419G>A c.(418-420)CGC>CAC p.R140H CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 LRP1B 53353 broad.mit.edu 37 2 141607804 141607804 + Silent SNP G T T 2012-1348:2012-1317-T g.chr2:141607804G>T uc002tvj.1 - 29 5778 c.4806C>A c.(4804-4806)GTC>GTA p.V1602V LRP1B_uc010fnl.1_Silent_p.V784V NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 142889620 142889620 + 5'Flank SNP T C C 2012-1348:2012-1317-T g.chr2:142889620T>C uc002tvj.1 - LRP1B_uc010fnl.1_5'Flank NM_018557 NP_061027 TTN 7273 broad.mit.edu 37 2 179616749 179616749 + Nonsense_Mutation SNP C A A 2012-1348:2012-1317-T g.chr2:179616749C>A uc002unb.2 - 46 10602 c.10378G>T c.(10378-10380)GAA>TAA p.E3460* TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 PLCB1 23236 broad.mit.edu 37 20 8130937 8130937 + Intron SNP C G G 2012-1348:2012-1317-T g.chr20:8130937C>G uc002wnb.2 + PLCB1_uc010zrb.1_Intron|PLCB1_uc010gbv.1_Intron|PLCB1_uc002wmz.1_Intron|PLCB1_uc002wna.2_Intron NM_015192 NP_056007 PAK7 57144 broad.mit.edu 37 20 9538372 9538372 + Silent SNP T C C 2012-1348:2012-1317-T g.chr20:9538372T>C uc002wnl.2 - 8 2171 c.1626A>G c.(1624-1626)GAA>GAG p.E542E PAK7_uc002wnk.2_Silent_p.E542E|PAK7_uc002wnj.2_Silent_p.E542E|PAK7_uc010gby.1_Silent_p.E542E NM_020341 NP_065074 BAGE2 85319 broad.mit.edu 37 21 11058479 11058479 + Intron SNP A G G 2012-1348:2012-1317-T g.chr21:11058479A>G uc002yit.1 - BAGE_uc002yiw.1_Intron NM_182482 NP_872288 PRDM15 63977 broad.mit.edu 37 21 43226553 43226553 + Intron SNP A G G 2012-1348:2012-1317-T g.chr21:43226553A>G uc002yzq.1 - PRDM15_uc002yzo.2_Intron|PRDM15_uc002yzp.2_Intron|PRDM15_uc002yzr.1_Intron NM_022115 NP_071398 FAM19A5 25817 broad.mit.edu 37 22 48925394 48925394 + Intron SNP T G G 2012-1348:2012-1317-T g.chr22:48925394T>G uc003bim.3 + NM_001082967 NP_001076436 CCR5 1234 broad.mit.edu 37 3 46415255 46415255 + Missense_Mutation SNP A G G rs150592242 by1000genomes 2012-1348:2012-1317-T g.chr3:46415255A>G uc003cpo.3 + 3 984 c.862A>G c.(862-864)ACG>GCG p.T288A CCR5_uc010hjd.2_Missense_Mutation_p.T288A NM_001100168 NP_001093638 EPHA3 2042 broad.mit.edu 37 3 89156461 89156461 + 5'Flank SNP C G G 2012-1348:2012-1317-T g.chr3:89156461C>G uc003dqy.2 + EPHA3_uc003dqx.1_5'Flank|EPHA3_uc010hon.1_5'Flank NM_005233 NP_005224 DPPA4 55211 broad.mit.edu 37 3 109047696 109047696 + Intron SNP G C C 2012-1348:2012-1317-T g.chr3:109047696G>C uc003dxq.3 - DPPA4_uc011bho.1_Intron NM_018189 NP_060659 EPHB1 2047 broad.mit.edu 37 3 134898637 134898637 + Intron SNP C T T 2012-1348:2012-1317-T g.chr3:134898637C>T uc003eqt.2 + EPHB1_uc003equ.2_Intron NM_004441 NP_004432 SI 6476 broad.mit.edu 37 3 164741456 164741456 + Missense_Mutation SNP G C C rs143631771 by1000genomes 2012-1348:2012-1317-T g.chr3:164741456G>C uc003fei.2 - 26 3063 c.3001C>G c.(3001-3003)CTA>GTA p.L1001V NM_001041 NP_001032 MUC4 4585 broad.mit.edu 37 3 195503210 195503210 + Intron SNP C G G 2012-1348:2012-1317-T g.chr3:195503210C>G uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 WHSC1 7468 broad.mit.edu 37 4 1961137 1961137 + Intron SNP G A A rs474235 by1000genomes 2012-1348:2012-1317-T g.chr4:1961137G>A uc003gdz.3 + WHSC1_uc003geb.3_Intron|WHSC1_uc003gec.3_Intron|WHSC1_uc003ged.3_Intron|WHSC1_uc003gee.3_Intron|WHSC1_uc003gef.3_Intron|WHSC1_uc003gei.3_Intron|WHSC1_uc011bvh.1_Intron|WHSC1_uc010icf.2_Intron NM_001042424 NP_001035889 FBXW7 55294 broad.mit.edu 37 4 153456102 153456102 + 5'UTR SNP A G G rs1351903 by1000genomes 2012-1348:2012-1317-T g.chr4:153456102A>G uc003ims.2 - 1 FBXW7_uc011cii.1_5'UTR|FBXW7_uc003imt.2_5'UTR|FBXW7_uc003imu.2_5'UTR|uc003imv.2_5'Flank NM_033632 NP_361014 CEP72 55722 broad.mit.edu 37 5 650654 650654 + Intron SNP T G G 2012-1348:2012-1317-T g.chr5:650654T>G uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1072045 1072045 + Intron SNP C T T 2012-1348:2012-1317-T g.chr5:1072045C>T uc003jbu.2 - NM_006598 NP_006589 DNAH5 1767 broad.mit.edu 37 5 13902133 13902133 + Intron SNP G C C 2012-1348:2012-1317-T g.chr5:13902133G>C uc003jfd.2 - NM_001369 NP_001360 PRDM9 56979 broad.mit.edu 37 5 23524459 23524459 + Silent SNP C A A 2012-1348:2012-1317-T g.chr5:23524459C>A uc003jgo.2 + 10 1149 c.967C>A c.(967-969)CGG>AGG p.R323R NM_020227 NP_064612 CDH9 1007 broad.mit.edu 37 5 26906868 26906868 + Silent SNP T A A 2012-1348:2012-1317-T g.chr5:26906868T>A uc003jgs.1 - 4 772 c.603A>T c.(601-603)ATA>ATT p.I201I CDH9_uc010iug.2_Silent_p.I201I NM_016279 NP_057363 CDH9 1007 broad.mit.edu 37 5 26906899 26906899 + Missense_Mutation SNP T G G 2012-1348:2012-1317-T g.chr5:26906899T>G uc003jgs.1 - 4 741 c.572A>C c.(571-573)TAT>TCT p.Y191S CDH9_uc010iug.2_Missense_Mutation_p.Y191S NM_016279 NP_057363 FAT2 2196 broad.mit.edu 37 5 150922433 150922433 + Missense_Mutation SNP C T T 2012-1348:2012-1317-T g.chr5:150922433C>T uc003lue.3 - 9 8268 c.8255G>A c.(8254-8256)AGG>AAG p.R2752K GM2A_uc011dcs.1_Intron NM_001447 NP_001438 HLA-F 3134 broad.mit.edu 37 6 29691397 29691397 + Intron SNP G A A 2012-1348:2012-1317-T g.chr6:29691397G>A uc010jrl.2 + HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Intron|HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_5'Flank NM_018950 NP_061823 HLA-A 3105 broad.mit.edu 37 6 29913344 29913344 + 3'UTR SNP G T T rs112720956 2012-1348:2012-1317-T g.chr6:29913344G>T uc003nol.2 + 8 HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc003non.2_3'UTR|HLA-A_uc003noo.2_3'UTR|HLA-A_uc010jrr.2_3'UTR|HLA-A_uc003nom.2_3'UTR|HLA-A_uc011dmc.1_3'UTR|HLA-A_uc011dmd.1_3'UTR NM_002116 NP_002107 HLA-A 3105 broad.mit.edu 37 6 29913483 29913483 + 3'UTR SNP T C C rs116198299 by1000genomes 2012-1348:2012-1317-T g.chr6:29913483T>C uc003nol.2 + 8 HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc003non.2_3'UTR|HLA-A_uc003noo.2_3'UTR|HLA-A_uc010jrr.2_3'UTR|HLA-A_uc003nom.2_3'UTR|HLA-A_uc011dmc.1_3'UTR|HLA-A_uc011dmd.1_3'UTR NM_002116 NP_002107 HLA-C 3107 broad.mit.edu 37 6 31238632 31238632 + Intron SNP C T T rs17886924 2012-1348:2012-1317-T g.chr6:31238632C>T uc003nsy.2 - HLA-C_uc011dnj.1_Intron|HLA-C_uc003nsx.2_Intron|HLA-C_uc003nsz.2_Intron|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Intron|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Intron NM_002117 NP_002108 SYNE1 23345 broad.mit.edu 37 6 152489294 152489294 + Intron SNP T C C rs998147 byFrequency;by1000genomes 2012-1348:2012-1317-T g.chr6:152489294T>C uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qop.3_Intron|SYNE1_uc011eez.1_Intron|SYNE1_uc003qoq.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 SMOC2 64094 broad.mit.edu 37 6 169016341 169016341 + Intron SNP G T T 2012-1348:2012-1317-T g.chr6:169016341G>T uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 SMOC2 64094 broad.mit.edu 37 6 169016344 169016344 + Intron SNP G A A 2012-1348:2012-1317-T g.chr6:169016344G>A uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 BAZ1B 9031 broad.mit.edu 37 7 72891657 72891657 + Missense_Mutation SNP C G G 2012-1348:2012-1317-T g.chr7:72891657C>G uc003tyc.2 - 7 2479 c.2134G>C c.(2134-2136)GAC>CAC p.D712H NM_032408 NP_115784 EPHA1 2041 broad.mit.edu 37 7 143088810 143088810 + Missense_Mutation SNP A T T 2012-1348:2012-1317-T g.chr7:143088810A>T uc003wcz.2 - 17 2842 c.2755T>A c.(2755-2757)TCT>ACT p.S919T NM_005232 NP_005223 UNC5D 137970 broad.mit.edu 37 8 35608213 35608213 + Silent SNP C T T 2012-1348:2012-1317-T g.chr8:35608213C>T uc003xjr.1 + 13 2377 c.2049C>T c.(2047-2049)ATC>ATT p.I683I UNC5D_uc003xjs.1_Silent_p.I678I|UNC5D_uc003xju.1_Silent_p.I259I NM_080872 NP_543148 UBXN2B 137886 broad.mit.edu 37 8 59338187 59338187 + Intron SNP C T T 2012-1348:2012-1317-T g.chr8:59338187C>T uc003xtl.2 + NM_001077619 NP_001071087 PKHD1L1 93035 broad.mit.edu 37 8 110539166 110539167 + Missense_Mutation DNP CT AG AG 2012-1348:2012-1317-T g.chr8:110539166_110539167CT>AG uc003yne.2 + 77 12742_12743 c.12638_12639CT>AG c.(12637-12639)ACT>AAG p.T4213K NM_177531 NP_803875 CSMD3 114788 broad.mit.edu 37 8 113364897 113364897 + Intron SNP T A A 2012-1348:2012-1317-T g.chr8:113364897T>A uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113871474 113871474 + Missense_Mutation SNP A T T 2012-1348:2012-1317-T g.chr8:113871474A>T uc003ynu.2 - 11 1814 c.1655T>A c.(1654-1656)CTT>CAT p.L552H CSMD3_uc003ynt.2_Missense_Mutation_p.L512H|CSMD3_uc011lhx.1_Missense_Mutation_p.L448H NM_198123 NP_937756 PLEC 5339 broad.mit.edu 37 8 144990637 144990637 + Missense_Mutation SNP T C C 2012-1348:2012-1317-T g.chr8:144990637T>C uc003zaf.1 - 32 13933 c.13763A>G c.(13762-13764)GAC>GGC p.D4588G PLEC_uc003zab.1_Missense_Mutation_p.D4451G|PLEC_uc003zac.1_Missense_Mutation_p.D4455G|PLEC_uc003zad.2_Missense_Mutation_p.D4451G|PLEC_uc003zae.1_Missense_Mutation_p.D4419G|PLEC_uc003zag.1_Missense_Mutation_p.D4429G|PLEC_uc003zah.2_Missense_Mutation_p.D4437G|PLEC_uc003zaj.2_Missense_Mutation_p.D4478G NM_201380 NP_958782 PARP10 84875 broad.mit.edu 37 8 145055734 145055734 + Intron SNP G A A 2012-1348:2012-1317-T g.chr8:145055734G>A uc003zal.3 - PARP10_uc003zak.3_Intron|PARP10_uc011lku.1_Intron|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Intron NM_032789 NP_116178 TSC1 7248 broad.mit.edu 37 9 135779859 135779859 + Intron SNP G A A 2012-1348:2012-1317-T g.chr9:135779859G>A uc004cca.2 - TSC1_uc004ccb.3_Intron|TSC1_uc011mcq.1_Intron|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 TSC1 7248 broad.mit.edu 37 9 135787749 135787749 + Missense_Mutation SNP G C C 2012-1348:2012-1317-T g.chr9:135787749G>C uc004cca.2 - 9 1067 c.833C>G c.(832-834)TCT>TGT p.S278C TSC1_uc004ccb.3_Missense_Mutation_p.S278C|TSC1_uc011mcq.1_Missense_Mutation_p.S227C|TSC1_uc011mcr.1_Missense_Mutation_p.S157C|TSC1_uc011mcs.1_Missense_Mutation_p.S157C|TSC1_uc004ccc.1_Missense_Mutation_p.S278C|TSC1_uc004ccd.2_Missense_Mutation_p.S278C|TSC1_uc004cce.1_Missense_Mutation_p.S278C NM_000368 NP_000359 NOTCH1 4851 broad.mit.edu 37 9 139410589 139410589 + Intron SNP A G G rs4880099 by1000genomes 2012-1348:2012-1317-T g.chr9:139410589A>G uc004chz.2 - NOTCH1_uc004cia.1_5'Flank NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139411880 139411880 + Intron SNP G A A rs9411254 by1000genomes 2012-1348:2012-1317-T g.chr9:139411880G>A uc004chz.2 - NM_017617 NP_060087 HUWE1 10075 broad.mit.edu 37 X 53563550 53563550 + Missense_Mutation SNP C G G 2012-1348:2012-1317-T g.chrX:53563550C>G uc004dsp.2 - 79 12618 c.12216G>C c.(12214-12216)GAG>GAC p.E4072D HUWE1_uc004dsn.2_Missense_Mutation_p.E2880D NM_031407 NP_113584 AGRN 375790 broad.mit.edu 37 1 966193 966193 + Intron SNP A G G 2012-1349:2012-1312-T g.chr1:966193A>G uc001ack.1 + NM_198576 NP_940978 PRKCZ 5590 broad.mit.edu 37 1 2055443 2055443 + Intron SNP G T T 2012-1349:2012-1312-T g.chr1:2055443G>T uc001aiq.2 + PRKCZ_uc001air.2_Intron|PRKCZ_uc010nyw.1_Intron|PRKCZ_uc001ais.2_Intron NM_002744 NP_002735 MEGF6 1953 broad.mit.edu 37 1 3500414 3500414 + Intron SNP C G G rs61762197 2012-1349:2012-1312-T g.chr1:3500414C>G uc001akl.2 - NM_001409 NP_001400 MTOR 2475 broad.mit.edu 37 1 11190702 11190702 + Missense_Mutation SNP T G G 2012-1349:2012-1312-T g.chr1:11190702T>G uc001asd.2 - 39 5618 c.5497A>C c.(5497-5499)ACC>CCC p.T1833P MTOR_uc001asc.2_Missense_Mutation_p.T38P NM_004958 NP_004949 MACF1 23499 broad.mit.edu 37 1 39826989 39826989 + Intron SNP G A A 2012-1349:2012-1312-T g.chr1:39826989G>A uc010oiu.1 + MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 CDH23 64072 broad.mit.edu 37 10 73448824 73448824 + Intron SNP G T T 2012-1349:2012-1312-T g.chr10:73448824G>T uc001jrx.3 + CDH23_uc001jry.2_Intron|CDH23_uc001jrz.2_Intron NM_022124 NP_071407 RIMBP2 23504 broad.mit.edu 37 12 131130663 131130663 + Intron SNP A T T 2012-1349:2012-1312-T g.chr12:131130663A>T uc001uim.2 - RIMBP2 23504 broad.mit.edu 37 12 131130776 131130776 + Intron SNP C T T 2012-1349:2012-1312-T g.chr12:131130776C>T uc001uim.2 - RIMBP2 23504 broad.mit.edu 37 12 131130819 131130819 + Intron SNP A T T 2012-1349:2012-1312-T g.chr12:131130819A>T uc001uim.2 - RIMBP2 23504 broad.mit.edu 37 12 131130884 131130884 + Intron SNP C T T 2012-1349:2012-1312-T g.chr12:131130884C>T uc001uim.2 - RIMBP2 23504 broad.mit.edu 37 12 131130886 131130886 + Intron SNP C G G rs111862178 2012-1349:2012-1312-T g.chr12:131130886C>G uc001uim.2 - CDADC1 81602 broad.mit.edu 37 13 49867337 49867337 + 3'UTR SNP T C C 2012-1349:2012-1312-T g.chr13:49867337T>C uc001vcu.2 + 10 CDADC1_uc010tgk.1_3'UTR|CDADC1_uc001vcv.2_RNA NM_030911 NP_112173 ATP11A 23250 broad.mit.edu 37 13 113527294 113527294 + Intron SNP G A A rs4907466 2012-1349:2012-1312-T g.chr13:113527294G>A uc001vsi.3 + ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_Intron NM_015205 NP_056020 INO80 54617 broad.mit.edu 37 15 41324251 41324251 + Intron SNP C G G rs35308283 by1000genomes 2012-1349:2012-1312-T g.chr15:41324251C>G uc001zni.2 - INO80_uc010ucu.1_Intron NM_017553 NP_060023 LMF1 64788 broad.mit.edu 37 16 907600 907600 + Intron SNP A T T 2012-1349:2012-1312-T g.chr16:907600A>T uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 908786 908786 + Intron SNP A T T 2012-1349:2012-1312-T g.chr16:908786A>T uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 908833 908833 + Intron SNP C G G 2012-1349:2012-1312-T g.chr16:908833C>G uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 908958 908958 + Intron SNP G C C 2012-1349:2012-1312-T g.chr16:908958G>C uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 909735 909735 + Intron SNP A G G 2012-1349:2012-1312-T g.chr16:909735A>G uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 PHKG2 5261 broad.mit.edu 37 16 30760548 30760548 + Intron SNP T G G 2012-1349:2012-1312-T g.chr16:30760548T>G uc002dzk.1 + PHKG2_uc002dzi.1_Intron|PHKG2_uc002dzj.1_Intron|PHKG2_uc002dzl.1_Intron NM_000294 NP_000285 TBC1D3 729873 broad.mit.edu 37 17 36348743 36348743 + Intron SNP G A A 2012-1349:2012-1312-T g.chr17:36348743G>A uc002hpr.2 - TBC1D3_uc010wdl.1_5'Flank|TBC1D3_uc002hox.2_5'Flank|TBC1D3_uc010wdm.1_5'Flank|TBC1D3_uc002hpq.2_5'Flank|TBC1D3_uc010cvj.1_5'Flank|TBC1D3_uc010cvk.2_Intron|TBC1D3_uc002hpp.2_5'Flank|TBC1D3_uc010wdn.1_Intron NM_001123391 NP_001116863 PRKCA 5578 broad.mit.edu 37 17 64794882 64794882 + Intron SNP G A A 2012-1349:2012-1312-T g.chr17:64794882G>A uc002jfp.1 + NM_002737 NP_002728 PRKCA 5578 broad.mit.edu 37 17 64794927 64794927 + Intron SNP G A A 2012-1349:2012-1312-T g.chr17:64794927G>A uc002jfp.1 + NM_002737 NP_002728 PRKCA 5578 broad.mit.edu 37 17 64794952 64794952 + Intron SNP T C C 2012-1349:2012-1312-T g.chr17:64794952T>C uc002jfp.1 + NM_002737 NP_002728 CABLES1 91768 broad.mit.edu 37 18 20798240 20798240 + Intron SNP C G G rs145683513 by1000genomes 2012-1349:2012-1312-T g.chr18:20798240C>G uc002kuc.2 + C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Intron|CABLES1_uc002kud.2_Intron NM_001100619 NP_001094089 ATP9B 374868 broad.mit.edu 37 18 77088004 77088004 + Intron SNP T G G 2012-1349:2012-1312-T g.chr18:77088004T>G uc002lmx.2 + ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Intron|ATP9B_uc002lmz.1_Intron NM_198531 NP_940933 SNTG2 54221 broad.mit.edu 37 2 960951 960951 + Intron SNP T C C 2012-1349:2012-1312-T g.chr2:960951T>C uc002qwq.2 + SNTG2_uc002qwp.2_Intron|SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 PXDN 7837 broad.mit.edu 37 2 1714921 1714921 + Intron SNP A C C 2012-1349:2012-1312-T g.chr2:1714921A>C uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 RMND5A 64795 broad.mit.edu 37 2 87623792 87623792 + Intron SNP C A A 2012-1349:2012-1312-T g.chr2:87623792C>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87644456 87644456 + Intron SNP G A A 2012-1349:2012-1312-T g.chr2:87644456G>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87651716 87651716 + Intron SNP G C C 2012-1349:2012-1312-T g.chr2:87651716G>C uc002srs.3 + DPP10 57628 broad.mit.edu 37 2 116196638 116196638 + Intron SNP A G G 2012-1349:2012-1312-T g.chr2:116196638A>G uc002tla.1 + DPP10_uc002tlb.1_Intron|DPP10_uc002tlc.1_Intron|DPP10_uc002tle.2_Intron|DPP10_uc002tlf.1_Intron NM_020868 NP_065919 LRP1B 53353 broad.mit.edu 37 2 141460161 141460161 + Intron SNP T G G 2012-1349:2012-1312-T g.chr2:141460161T>G uc002tvj.1 - NM_018557 NP_061027 KIF1A 547 broad.mit.edu 37 2 241752316 241752316 + Intron SNP G A A 2012-1349:2012-1312-T g.chr2:241752316G>A uc002vzy.2 - KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron NM_004321 NP_004312 C20orf26 26074 broad.mit.edu 37 20 20336986 20336986 + Intron SNP T G G 2012-1349:2012-1312-T g.chr20:20336986T>G uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 C20orf26 26074 broad.mit.edu 37 20 20337100 20337100 + Intron SNP G A A 2012-1349:2012-1312-T g.chr20:20337100G>A uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 TAF4 6874 broad.mit.edu 37 20 60561189 60561189 + Intron SNP A C C 2012-1349:2012-1312-T g.chr20:60561189A>C uc002ybs.2 - NM_003185 NP_003176 BAGE2 85319 broad.mit.edu 37 21 11085602 11085602 + Intron SNP C T T 2012-1349:2012-1312-T g.chr21:11085602C>T uc002yit.1 - BAGE_uc002yix.2_Intron NM_182482 NP_872288 RAF1 5894 broad.mit.edu 37 3 12626582 12626582 + Intron SNP T C C 2012-1349:2012-1312-T g.chr3:12626582T>C uc003bxf.3 - RAF1_uc011aut.1_Intron|RAF1_uc011auu.1_Intron NM_002880 NP_002871 BBX 56987 broad.mit.edu 37 3 107494978 107494978 + Intron SNP C T T rs9847666 by1000genomes 2012-1349:2012-1312-T g.chr3:107494978C>T uc010hpr.2 + BBX_uc003dwk.3_Intron|BBX_uc003dwl.3_Intron|BBX_uc003dwm.3_Intron|BBX_uc003dwo.3_Intron NM_001142568 NP_001136040 TFRC 7037 broad.mit.edu 37 3 195800906 195800906 + Missense_Mutation SNP T C C 2012-1349:2012-1312-T g.chr3:195800906T>C uc003fvz.3 - 4 612 c.329A>G c.(328-330)GAG>GGG p.E110G TFRC_uc003fwa.3_Missense_Mutation_p.E110G|TFRC_uc010hzy.2_Missense_Mutation_p.E29G|TFRC_uc011btr.1_Intron NM_003234 NP_003225 FGFR3 2261 broad.mit.edu 37 4 1803704 1803704 + Silent SNP T C C rs2234909 byFrequency;by1000genomes 2012-1349:2012-1312-T g.chr4:1803704T>C uc003gdr.3 + 7 1138 c.882T>C c.(880-882)AAT>AAC p.N294N FGFR3_uc003gdu.2_Silent_p.N294N|FGFR3_uc003gds.3_Silent_p.N294N|FGFR3_uc003gdq.3_Silent_p.N294N|FGFR3_uc010icb.1_Intron|FGFR3_uc003gdt.1_Silent_p.N136N NM_000142 NP_000133 NOP14 8602 broad.mit.edu 37 4 2947776 2947776 + Intron SNP T G G 2012-1349:2012-1312-T g.chr4:2947776T>G uc003ggj.1 - C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggk.3_Intron|NOP14_uc003ggl.2_Intron NM_003703 NP_003694 CTNND2 1501 broad.mit.edu 37 5 11022914 11022914 + Missense_Mutation SNP T A A 2012-1349:2012-1312-T g.chr5:11022914T>A uc003jfa.1 - 17 3111 c.2966A>T c.(2965-2967)AAG>ATG p.K989M CTNND2_uc010itt.2_Missense_Mutation_p.K898M|CTNND2_uc011cmy.1_Missense_Mutation_p.K652M|CTNND2_uc011cmz.1_Missense_Mutation_p.K556M|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.K581M NM_001332 NP_001323 BPHL 670 broad.mit.edu 37 6 3147062 3147062 + Intron SNP G A A 2012-1349:2012-1312-T g.chr6:3147062G>A uc003mva.2 + BPHL_uc003muz.2_Intron|BPHL_uc011dht.1_Intron|BPHL_uc003muy.2_Intron NM_004332 NP_004323 UNC93A 54346 broad.mit.edu 37 6 167709143 167709143 + Intron SNP C G G 2012-1349:2012-1312-T g.chr6:167709143C>G uc003qvq.2 + UNC93A_uc003qvr.2_Intron NM_018974 NP_061847 TRRAP 8295 broad.mit.edu 37 7 98501021 98501021 + Missense_Mutation SNP C G G 2012-1349:2012-1312-T g.chr7:98501021C>G uc003upp.2 + 12 1126 c.917C>G c.(916-918)TCT>TGT p.S306C TRRAP_uc011kis.1_Missense_Mutation_p.S306C|TRRAP_uc003upr.2_5'UTR NM_003496 NP_003487 MET 4233 broad.mit.edu 37 7 116371694 116371694 + Intron SNP T C C 2012-1349:2012-1312-T g.chr7:116371694T>C uc003vij.2 + MET_uc010lkh.2_Intron|MET_uc011knc.1_Intron|MET_uc011knd.1_Intron|MET_uc011kne.1_Intron|MET_uc011knf.1_Intron|MET_uc011kng.1_Intron|MET_uc011knh.1_Intron|MET_uc011kni.1_Intron|MET_uc011knj.1_Intron|MET_uc010lkg.2_Intron|MET_uc011kna.1_Intron|MET_uc011knb.1_Intron NM_000245 NP_000236 PTPRN2 5799 broad.mit.edu 37 7 157846572 157846572 + Intron SNP T C C 2012-1349:2012-1312-T g.chr7:157846572T>C uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157852014 157852014 + Intron SNP A G G 2012-1349:2012-1312-T g.chr7:157852014A>G uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158144672 158144672 + Intron SNP C G G 2012-1349:2012-1312-T g.chr7:158144672C>G uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158295585 158295585 + Intron SNP C T T 2012-1349:2012-1312-T g.chr7:158295585C>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158295677 158295677 + Intron SNP C A A 2012-1349:2012-1312-T g.chr7:158295677C>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ARHGEF10 9639 broad.mit.edu 37 8 1779661 1779661 + Intron SNP G T T rs113395503 2012-1349:2012-1312-T g.chr8:1779661G>T uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 CSMD3 114788 broad.mit.edu 37 8 114449346 114449346 + 5'Flank SNP T A A 2012-1349:2012-1312-T g.chr8:114449346T>A uc003ynu.2 - CSMD3_uc011lhx.1_5'Flank|CSMD3_uc010mcx.1_5'Flank|CSMD3_uc003ynx.3_5'Flank NM_198123 NP_937756 ZNF16 7564 broad.mit.edu 37 8 146172189 146172189 + Intron SNP C T T 2012-1349:2012-1312-T g.chr8:146172189C>T uc003zet.2 - ZNF16_uc003zeu.2_Intron NM_001029976 NP_001025147 ZNF16 7564 broad.mit.edu 37 8 146172560 146172560 + Intron SNP C G G 2012-1349:2012-1312-T g.chr8:146172560C>G uc003zet.2 - ZNF16_uc003zeu.2_Intron NM_001029976 NP_001025147 HUWE1 10075 broad.mit.edu 37 X 53644096 53644096 + Missense_Mutation SNP G T T 2012-1349:2012-1312-T g.chrX:53644096G>T uc004dsp.2 - 21 2194 c.1792C>A c.(1792-1794)CGT>AGT p.R598S NM_031407 NP_113584 PRDM16 63976 broad.mit.edu 37 1 3082189 3082189 + Intron SNP G T T 2012-1351:2012-338-T g.chr1:3082189G>T uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 EPHA2 1969 broad.mit.edu 37 1 16460339 16460339 + Intron SNP G A A rs6669624 by1000genomes 2012-1351:2012-338-T g.chr1:16460339G>A uc001aya.1 - NM_004431 NP_004422 EPHA2 1969 broad.mit.edu 37 1 16460541 16460541 + Intron SNP T C C rs6603855 by1000genomes 2012-1351:2012-338-T g.chr1:16460541T>C uc001aya.1 - NM_004431 NP_004422 NOTCH2 4853 broad.mit.edu 37 1 120490857 120490857 + Intron SNP C G G 2012-1351:2012-338-T g.chr1:120490857C>G uc001eik.2 - NOTCH2_uc001eil.2_Intron NM_024408 NP_077719 PDE4DIP 9659 broad.mit.edu 37 1 144917479 144917479 + Intron SNP G C C 2012-1351:2012-338-T g.chr1:144917479G>C uc001elw.3 - NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001emc.1_Intron|PDE4DIP_uc001emd.1_Intron|PDE4DIP_uc001emb.1_Intron|PDE4DIP_uc001eme.1_Intron|PDE4DIP_uc001emf.1_Intron NM_014644 NP_055459 PDE4DIP 9659 broad.mit.edu 37 1 144917552 144917552 + Missense_Mutation SNP G C C 2012-1351:2012-338-T g.chr1:144917552G>C uc001elw.3 - 12 1843 c.1552C>G c.(1552-1554)CAT>GAT p.H518D NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.H584D|PDE4DIP_uc001emc.1_Missense_Mutation_p.H518D|PDE4DIP_uc001emd.1_Missense_Mutation_p.H518D|PDE4DIP_uc001emb.1_Missense_Mutation_p.H681D|PDE4DIP_uc001eme.1_Missense_Mutation_p.H47D|PDE4DIP_uc001emf.1_Missense_Mutation_p.H305D NM_014644 NP_055459 IRF6 3664 broad.mit.edu 37 1 209968918 209968918 + Intron SNP G A A rs17015224 by1000genomes 2012-1351:2012-338-T g.chr1:209968918G>A uc001hhq.1 - IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Intron NM_006147 NP_006138 USH2A 7399 broad.mit.edu 37 1 215849044 215849044 + Intron SNP C G G rs4443864 by1000genomes 2012-1351:2012-338-T g.chr1:215849044C>G uc001hku.1 - NM_206933 NP_996816 USH2A 7399 broad.mit.edu 37 1 216143948 216143948 + Intron SNP T C C rs6689120 by1000genomes 2012-1351:2012-338-T g.chr1:216143948T>C uc001hku.1 - NM_206933 NP_996816 USH2A 7399 broad.mit.edu 37 1 216370108 216370108 + Intron SNP C T T rs447102 by1000genomes 2012-1351:2012-338-T g.chr1:216370108C>T uc001hku.1 - USH2A_uc001hkv.2_Intron NM_206933 NP_996816 ZMYND11 10771 broad.mit.edu 37 10 194267 194267 + Intron SNP C T T 2012-1351:2012-338-T g.chr10:194267C>T uc010pzt.1 + ZMYND11_uc001ifk.2_Intron|ZMYND11_uc010pzu.1_Intron|ZMYND11_uc010pzv.1_Intron|ZMYND11_uc010pzw.1_Intron|ZMYND11_uc001ifm.2_Intron NM_006624 NP_006615 FGFR2 2263 broad.mit.edu 37 10 123239112 123239112 + 3'UTR SNP G A A rs1047057 by1000genomes 2012-1351:2012-338-T g.chr10:123239112G>A uc010qtk.1 - 19 FGFR2_uc010qtg.1_3'UTR|FGFR2_uc010qth.1_3'UTR|FGFR2_uc010qti.1_Silent_p.L703L|FGFR2_uc010qtj.1_3'UTR|FGFR2_uc010qtl.1_3'UTR|FGFR2_uc010qtm.1_3'UTR|FGFR2_uc001lfg.3_3'UTR NM_000141 NP_000132 FGFR2 2263 broad.mit.edu 37 10 123243197 123243197 + Intron SNP G A A rs2278202 by1000genomes 2012-1351:2012-338-T g.chr10:123243197G>A uc010qtk.1 - FGFR2_uc010qtg.1_Intron|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Intron|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_Intron|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfg.3_Intron|FGFR2_uc001lfk.1_Intron NM_000141 NP_000132 DOCK1 1793 broad.mit.edu 37 10 129226688 129226688 + Intron SNP T C C 2012-1351:2012-338-T g.chr10:129226688T>C uc001ljt.2 + DOCK1_uc010qun.1_Intron|DOCK1_uc009yaq.2_Intron NM_001380 NP_001371 BRSK2 9024 broad.mit.edu 37 11 1416189 1416189 + Intron SNP C T T 2012-1351:2012-338-T g.chr11:1416189C>T uc001lti.2 + BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001ltj.2_Intron|BRSK2_uc001ltk.2_Intron|BRSK2_uc001ltl.2_Intron NM_003957 NP_003948 MTA2 9219 broad.mit.edu 37 11 62362293 62362293 + Intron SNP A G G rs11231154 by1000genomes 2012-1351:2012-338-T g.chr11:62362293A>G uc001ntq.1 - MTA2_uc010rlx.1_Intron NM_004739 NP_004730 MTA2 9219 broad.mit.edu 37 11 62369436 62369436 + 5'Flank SNP C G G rs12049914 by1000genomes 2012-1351:2012-338-T g.chr11:62369436C>G uc001ntq.1 - MTA2_uc010rlx.1_5'Flank NM_004739 NP_004730 MRE11A 4361 broad.mit.edu 37 11 94179125 94179125 + Intron SNP T C C rs1014666 by1000genomes 2012-1351:2012-338-T g.chr11:94179125T>C uc001peu.2 - MRE11A_uc001pev.2_Intron|MRE11A_uc009ywj.2_Intron NM_005591 NP_005582 MRE11A 4361 broad.mit.edu 37 11 94197260 94197260 + Intron SNP A G G rs641936 by1000genomes 2012-1351:2012-338-T g.chr11:94197260A>G uc001peu.2 - MRE11A_uc001pev.2_Intron|MRE11A_uc009ywj.2_Intron NM_005591 NP_005582 MRE11A 4361 broad.mit.edu 37 11 94212154 94212154 + Intron SNP A G G rs680695 by1000genomes 2012-1351:2012-338-T g.chr11:94212154A>G uc001peu.2 - MRE11A_uc001pev.2_Intron|MRE11A_uc009ywj.2_Intron NM_005591 NP_005582 MRE11A 4361 broad.mit.edu 37 11 94225807 94225807 + Intron SNP C T T rs496797 by1000genomes 2012-1351:2012-338-T g.chr11:94225807C>T uc001peu.2 - MRE11A_uc001pev.2_Intron|MRE11A_uc009ywj.2_Splice_Site_p.G10_splice|ANKRD49_uc001pew.2_5'Flank|ANKRD49_uc001pex.2_5'Flank NM_005591 NP_005582 MRE11A 4361 broad.mit.edu 37 11 94225920 94225920 + Intron SNP C T T rs497763 by1000genomes 2012-1351:2012-338-T g.chr11:94225920C>T uc001peu.2 - MRE11A_uc001pev.2_Intron|MRE11A_uc009ywj.2_5'UTR|ANKRD49_uc001pew.2_5'Flank|ANKRD49_uc001pex.2_5'Flank NM_005591 NP_005582 MRE11A 4361 broad.mit.edu 37 11 94227125 94227125 + 5'Flank SNP C A A rs11020802 by1000genomes 2012-1351:2012-338-T g.chr11:94227125C>A uc001peu.2 - MRE11A_uc001pev.2_5'Flank|MRE11A_uc009ywj.2_5'Flank|ANKRD49_uc001pew.2_5'Flank|ANKRD49_uc001pex.2_5'Flank NM_005591 NP_005582 PIK3C2G 5288 broad.mit.edu 37 12 18414567 18414567 + Intron SNP G C C rs73060413 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr12:18414567G>C uc001rdt.2 + PIK3C2G_uc010sia.1_Intron NM_004570 NP_004561 PIK3C2G 5288 broad.mit.edu 37 12 18446678 18446678 + Intron SNP T C C rs7132223 by1000genomes 2012-1351:2012-338-T g.chr12:18446678T>C uc001rdt.2 + PIK3C2G_uc010sia.1_Intron|PIK3C2G_uc010sib.1_Intron|PIK3C2G_uc010sic.1_Intron NM_004570 NP_004561 PIK3C2G 5288 broad.mit.edu 37 12 18656174 18656174 + Intron SNP G C C rs11044141 by1000genomes 2012-1351:2012-338-T g.chr12:18656174G>C uc001rdt.2 + PIK3C2G_uc010sia.1_Intron|PIK3C2G_uc010sib.1_Intron|PIK3C2G_uc010sic.1_Intron NM_004570 NP_004561 ASCL4 121549 broad.mit.edu 37 12 108168706 108168706 + 5'UTR SNP G A A rs61938581 by1000genomes 2012-1351:2012-338-T g.chr12:108168706G>A uc001tmr.2 + 1 NM_203436 NP_982260 RB1 5925 broad.mit.edu 37 13 48916895 48916895 + Intron SNP C T T rs520342 by1000genomes 2012-1351:2012-338-T g.chr13:48916895C>T uc001vcb.2 + RB1_uc010acs.1_Intron NM_000321 NP_000312 MYH7 4625 broad.mit.edu 37 14 23897793 23897793 + Missense_Mutation SNP C G G 2012-1351:2012-338-T g.chr14:23897793C>G uc001wjx.2 - 15 1600 c.1494G>C c.(1492-1494)CAG>CAC p.Q498H NM_000257 NP_000248 FANCM 57697 broad.mit.edu 37 14 45609669 45609669 + Intron SNP A G G rs8017844 by1000genomes 2012-1351:2012-338-T g.chr14:45609669A>G uc001wwd.3 + FANCM_uc001wwc.2_Intron|FANCM_uc010anf.2_Intron NM_020937 NP_065988 FANCM 57697 broad.mit.edu 37 14 45633418 45633418 + Intron SNP C G G rs10129236 by1000genomes 2012-1351:2012-338-T g.chr14:45633418C>G uc001wwd.3 + FANCM_uc001wwc.2_Intron|FANCM_uc010anf.2_Intron|FANCM_uc001wwe.3_Intron NM_020937 NP_065988 FANCM 57697 broad.mit.edu 37 14 45650158 45650158 + Intron SNP A G G rs17115866 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr14:45650158A>G uc001wwd.3 + FANCM_uc010anf.2_Intron|FANCM_uc001wwe.3_Intron|FANCM_uc010ang.2_Intron NM_020937 NP_065988 FANCM 57697 broad.mit.edu 37 14 45650813 45650813 + Intron SNP G A A rs8020533 by1000genomes 2012-1351:2012-338-T g.chr14:45650813G>A uc001wwd.3 + FANCM_uc010anf.2_Intron|FANCM_uc001wwe.3_Intron|FANCM_uc010ang.2_Intron NM_020937 NP_065988 FANCM 57697 broad.mit.edu 37 14 45664721 45664721 + Intron SNP C G G rs58790242 by1000genomes 2012-1351:2012-338-T g.chr14:45664721C>G uc001wwd.3 + FANCM_uc010anf.2_Intron|FANCM_uc001wwe.3_Intron|FANCM_uc010ang.2_Missense_Mutation_p.S1007C NM_020937 NP_065988 SYNE2 23224 broad.mit.edu 37 14 64331334 64331334 + Intron SNP A T T rs998242 by1000genomes 2012-1351:2012-338-T g.chr14:64331334A>T uc001xgm.2 + SYNE2_uc001xgk.2_Intron|SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64331366 64331366 + Intron SNP C A A rs998241 by1000genomes 2012-1351:2012-338-T g.chr14:64331366C>A uc001xgm.2 + SYNE2_uc001xgk.2_Intron|SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64340877 64340877 + Intron SNP A G G rs8016321 by1000genomes 2012-1351:2012-338-T g.chr14:64340877A>G uc001xgm.2 + SYNE2_uc001xgk.2_Intron|SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64450479 64450479 + Missense_Mutation SNP A G G rs78191145 by1000genomes 2012-1351:2012-338-T g.chr14:64450479A>G uc001xgm.2 + 18 2256 c.2026A>G c.(2026-2028)AAA>GAA p.K676E SYNE2_uc001xgl.2_Missense_Mutation_p.K676E NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64556271 64556271 + Intron SNP T C C rs72720312 by1000genomes 2012-1351:2012-338-T g.chr14:64556271T>C uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc010apx.1_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64565582 64565582 + Intron SNP T C C rs9323444 by1000genomes 2012-1351:2012-338-T g.chr14:64565582T>C uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc010apx.1_Missense_Mutation_p.S534P|SYNE2_uc010apz.1_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64629042 64629042 + Intron SNP G T T 2012-1351:2012-338-T g.chr14:64629042G>T uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc001xgp.2_Missense_Mutation_p.Q178H|SYNE2_uc010aqa.2_Intron NM_015180 NP_055995 TRIP11 9321 broad.mit.edu 37 14 92454604 92454604 + Intron SNP A G G rs2273182 by1000genomes 2012-1351:2012-338-T g.chr14:92454604A>G uc001xzy.2 - TRIP11_uc010auf.1_Intron NM_004239 NP_004230 TRIP11 9321 broad.mit.edu 37 14 92460098 92460098 + Intron SNP C A A rs2273185 by1000genomes 2012-1351:2012-338-T g.chr14:92460098C>A uc001xzy.2 - TRIP11_uc010auf.1_Intron NM_004239 NP_004230 TRIP11 9321 broad.mit.edu 37 14 92473943 92473943 + Intron SNP T C C rs3818095 by1000genomes 2012-1351:2012-338-T g.chr14:92473943T>C uc001xzy.2 - TRIP11_uc010auf.1_Intron NM_004239 NP_004230 TRIP11 9321 broad.mit.edu 37 14 92477168 92477168 + Intron SNP A G G rs2277526 by1000genomes 2012-1351:2012-338-T g.chr14:92477168A>G uc001xzy.2 - TRIP11_uc010auf.1_Intron NM_004239 NP_004230 TRIP11 9321 broad.mit.edu 37 14 92478198 92478198 + Intron SNP A G G rs7151632 by1000genomes 2012-1351:2012-338-T g.chr14:92478198A>G uc001xzy.2 - TRIP11_uc010auf.1_Intron NM_004239 NP_004230 PPP4R4 57718 broad.mit.edu 37 14 94708675 94708675 + Missense_Mutation SNP C T T 2012-1351:2012-338-T g.chr14:94708675C>T uc001ycs.1 + 11 1350 c.1196C>T c.(1195-1197)TCT>TTT p.S399F NM_058237 NP_478144 DICER1 23405 broad.mit.edu 37 14 95581899 95581899 + Intron SNP G A A rs2275182 by1000genomes 2012-1351:2012-338-T g.chr14:95581899G>A uc001ydw.2 - DICER1_uc001ydv.2_Intron|DICER1_uc001ydx.2_Intron NM_030621 NP_085124 TRAF3 7187 broad.mit.edu 37 14 103338324 103338324 + Intron SNP T A A rs2295402 by1000genomes 2012-1351:2012-338-T g.chr14:103338324T>A uc001ymc.1 + TRAF3_uc001yme.1_Intron|TRAF3_uc001ymd.1_Intron|TRAF3_uc010txy.1_Intron NM_145725 NP_663777 TRAF3 7187 broad.mit.edu 37 14 103357603 103357603 + Intron SNP G T T rs2273393 by1000genomes 2012-1351:2012-338-T g.chr14:103357603G>T uc001ymc.1 + TRAF3_uc001yme.1_Intron|TRAF3_uc001ymd.1_Intron|TRAF3_uc010txy.1_Intron NM_145725 NP_663777 TLN2 83660 broad.mit.edu 37 15 63030295 63030295 + Intron SNP T G G 2012-1351:2012-338-T g.chr15:63030295T>G uc002alb.3 + TLN2_uc002alc.3_5'Flank NM_015059 NP_055874 CYLD 1540 broad.mit.edu 37 16 50811964 50811964 + Intron SNP G A A rs16948813 by1000genomes 2012-1351:2012-338-T g.chr16:50811964G>A uc002egp.1 + CYLD_uc002ego.2_Intron|CYLD_uc010cbs.1_Intron|CYLD_uc002egq.1_Intron|CYLD_uc002egr.1_Intron|CYLD_uc002egs.1_Intron NM_015247 NP_056062 CDH1 999 broad.mit.edu 37 16 68867192 68867192 + Splice_Site SNP G C C 2012-1351:2012-338-T g.chr16:68867192G>C uc002ewg.1 + 16 2564 c.2440_splice c.e16-1 p.N814_splice CDH1_uc010vlj.1_Splice_Site|CDH1_uc010cfg.1_Splice_Site_p.N753_splice NM_004360 NP_004351 ZFPM1 161882 broad.mit.edu 37 16 88588188 88588188 + Intron SNP A C C rs67501042 2012-1351:2012-338-T g.chr16:88588188A>C uc002fkv.2 + NM_153813 NP_722520 FANCA 2175 broad.mit.edu 37 16 89845287 89845287 + Intron SNP A G G rs2302162 byFrequency 2012-1351:2012-338-T g.chr16:89845287A>G uc002fou.1 - FANCA_uc010vpn.1_Intron NM_000135 NP_000126 ABR 29 broad.mit.edu 37 17 1022595 1022595 + Intron SNP C G G 2012-1351:2012-338-T g.chr17:1022595C>G uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 ABR 29 broad.mit.edu 37 17 1046418 1046418 + Intron SNP G A A 2012-1351:2012-338-T g.chr17:1046418G>A uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 TBC1D3 729873 broad.mit.edu 37 17 36349315 36349315 + Intron SNP C T T 2012-1351:2012-338-T g.chr17:36349315C>T uc002hpr.2 - TBC1D3_uc010wdl.1_5'Flank|TBC1D3_uc002hox.2_5'Flank|TBC1D3_uc010wdm.1_5'Flank|TBC1D3_uc002hpq.2_5'Flank|TBC1D3_uc010cvj.1_5'Flank|TBC1D3_uc010cvk.2_Intron|TBC1D3_uc002hpp.2_5'Flank|TBC1D3_uc010wdn.1_Intron NM_001123391 NP_001116863 STAT3 6774 broad.mit.edu 37 17 40474864 40474864 + Intron SNP A G G rs8064496 by1000genomes 2012-1351:2012-338-T g.chr17:40474864A>G uc002hzl.1 - STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron NM_139276 NP_644805 STAT3 6774 broad.mit.edu 37 17 40489939 40489939 + Intron SNP T G G rs62075766 by1000genomes 2012-1351:2012-338-T g.chr17:40489939T>G uc002hzl.1 - STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron NM_139276 NP_644805 STAT3 6774 broad.mit.edu 37 17 40500265 40500265 + Intron SNP C A A rs2306581 by1000genomes 2012-1351:2012-338-T g.chr17:40500265C>A uc002hzl.1 - STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron NM_139276 NP_644805 BRCA1 672 broad.mit.edu 37 17 41215825 41215825 + Intron SNP C T T rs3092994 by1000genomes 2012-1351:2012-338-T g.chr17:41215825C>T uc002icq.2 - BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Intron|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Intron|BRCA1_uc002ict.2_Intron|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron NM_007294 NP_009225 BRCA1 672 broad.mit.edu 37 17 41219560 41219560 + Intron SNP C T T rs8176235 by1000genomes 2012-1351:2012-338-T g.chr17:41219560C>T uc002icq.2 - BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Intron|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Intron|BRCA1_uc002ict.2_Intron|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron NM_007294 NP_009225 BRCA1 672 broad.mit.edu 37 17 41226601 41226601 + Intron SNP G C C rs8176212 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr17:41226601G>C uc002icq.2 - BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Intron|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Intron|BRCA1_uc002ict.2_Intron|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron NM_007294 NP_009225 BRCA1 672 broad.mit.edu 37 17 41226675 41226675 + Intron SNP A T T rs2236762 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr17:41226675A>T uc002icq.2 - BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Intron|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Intron|BRCA1_uc002ict.2_Intron|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron NM_007294 NP_009225 BRCA1 672 broad.mit.edu 37 17 41257134 41257134 + Intron SNP T C C rs799912 by1000genomes 2012-1351:2012-338-T g.chr17:41257134T>C uc002icq.2 - BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Intron|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Intron|BRCA1_uc002ict.2_Intron|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_5'Flank|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Intron|BRCA1_uc002ide.1_5'Flank|BRCA1_uc010cyy.1_Intron|BRCA1_uc010whs.1_Intron|BRCA1_uc010cyz.2_Intron|BRCA1_uc010cza.2_Intron|BRCA1_uc010wht.1_Intron NM_007294 NP_009225 BRCA1 672 broad.mit.edu 37 17 41277187 41277187 + Intron SNP G C C rs799905 by1000genomes 2012-1351:2012-338-T g.chr17:41277187G>C uc002icq.2 - BRCA1_uc010whp.1_Intron|NBR2_uc002idf.2_5'Flank|NBR2_uc010czb.1_5'Flank|NBR2_uc002idg.2_5'Flank|NBR2_uc002idh.2_5'Flank|BRCA1_uc010whl.1_5'Flank|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Intron|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Intron|BRCA1_uc002ict.2_Intron|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_5'Flank|BRCA1_uc010cyy.1_Intron|BRCA1_uc010whs.1_Intron|BRCA1_uc010cyz.2_Intron|BRCA1_uc010cza.2_Intron|BRCA1_uc010wht.1_Intron NM_007294 NP_009225 RAD51C 5889 broad.mit.edu 37 17 56771096 56771096 + Intron SNP C T T rs17222691 by1000genomes 2012-1351:2012-338-T g.chr17:56771096C>T uc002iwu.2 + TEX14_uc002iwr.1_5'Flank|TEX14_uc002iws.1_5'Flank|TEX14_uc010dcz.1_5'Flank|TEX14_uc010dda.1_5'Flank|TEX14_uc010wnz.1_5'Flank|RAD51C_uc002iwt.1_Intron|RAD51C_uc010woa.1_Intron|RAD51C_uc010ddc.2_Intron|RAD51C_uc002iwv.2_Intron|RAD51C_uc002iww.2_Intron|RAD51C_uc010wob.1_Intron NM_058216 NP_478123 BRIP1 83990 broad.mit.edu 37 17 59763114 59763114 + Intron SNP A T T rs4988357 by1000genomes 2012-1351:2012-338-T g.chr17:59763114A>T uc002izk.1 - BRIP1_uc002izl.1_3'UTR NM_032043 NP_114432 RPTOR 57521 broad.mit.edu 37 17 78814156 78814156 + Intron SNP G A A rs113199399 2012-1351:2012-338-T g.chr17:78814156G>A uc002jyt.1 + RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 PHLPP1 23239 broad.mit.edu 37 18 60612536 60612536 + Intron SNP T G G rs525092 by1000genomes 2012-1351:2012-338-T g.chr18:60612536T>G uc002lis.2 + NM_194449 NP_919431 PHLPP1 23239 broad.mit.edu 37 18 60630531 60630531 + Intron SNP T C C rs547690 by1000genomes 2012-1351:2012-338-T g.chr18:60630531T>C uc002lis.2 + NM_194449 NP_919431 NOTCH3 4854 broad.mit.edu 37 19 15291699 15291699 + Intron SNP T C C rs57538005 by1000genomes 2012-1351:2012-338-T g.chr19:15291699T>C uc002nan.2 - NOTCH3_uc002nao.1_Intron NM_000435 NP_000426 PIK3R2 5296 broad.mit.edu 37 19 18273784 18273784 + Missense_Mutation SNP G A A 2012-1351:2012-338-T g.chr19:18273784G>A uc002nia.1 + 10 1629 c.1117G>A c.(1117-1119)GGG>AGG p.G373R PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 ZNF544 27300 broad.mit.edu 37 19 58769866 58769866 + Intron SNP T A A 2012-1351:2012-338-T g.chr19:58769866T>A uc010euo.2 + ZNF544_uc010eun.1_Intron|ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Intron|ZNF544_uc010yhy.1_Intron|ZNF544_uc002qrt.3_Intron|ZNF544_uc002qru.3_Intron|uc002qrx.1_RNA NM_014480 NP_055295 ZNF544 27300 broad.mit.edu 37 19 58769896 58769896 + Intron SNP T A A 2012-1351:2012-338-T g.chr19:58769896T>A uc010euo.2 + ZNF544_uc010eun.1_Intron|ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Intron|ZNF544_uc010yhy.1_Intron|ZNF544_uc002qrt.3_Intron|ZNF544_uc002qru.3_Intron|uc002qrx.1_RNA NM_014480 NP_055295 RMND5A 64795 broad.mit.edu 37 2 87655342 87655342 + Intron SNP A G G 2012-1351:2012-338-T g.chr2:87655342A>G uc002srs.3 + LRP1B 53353 broad.mit.edu 37 2 140992337 140992337 + Intron SNP C A A rs13387241 by1000genomes 2012-1351:2012-338-T g.chr2:140992337C>A uc002tvj.1 - NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141004513 141004513 + Intron SNP C T T rs11895946 by1000genomes 2012-1351:2012-338-T g.chr2:141004513C>T uc002tvj.1 - NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141253408 141253408 + Intron SNP T C C rs11683334 by1000genomes 2012-1351:2012-338-T g.chr2:141253408T>C uc002tvj.1 - NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141260507 141260507 + Intron SNP T C C rs4450541 by1000genomes 2012-1351:2012-338-T g.chr2:141260507T>C uc002tvj.1 - NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141260754 141260754 + Intron SNP G A A rs76928339 by1000genomes 2012-1351:2012-338-T g.chr2:141260754G>A uc002tvj.1 - NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141708021 141708021 + Intron SNP T A A rs6706503 by1000genomes 2012-1351:2012-338-T g.chr2:141708021T>A uc002tvj.1 - LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141747249 141747249 + Intron SNP A T T rs1429365 by1000genomes 2012-1351:2012-338-T g.chr2:141747249A>T uc002tvj.1 - LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141747293 141747293 + Intron SNP T C C rs1429366 by1000genomes 2012-1351:2012-338-T g.chr2:141747293T>C uc002tvj.1 - LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141945852 141945852 + Intron SNP C T T rs1249433 by1000genomes 2012-1351:2012-338-T g.chr2:141945852C>T uc002tvj.1 - LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 142888376 142888376 + 5'UTR SNP G C C rs1375610 by1000genomes 2012-1351:2012-338-T g.chr2:142888376G>C uc002tvj.1 - 1 LRP1B_uc010fnl.1_Missense_Mutation_p.P12A NM_018557 NP_061027 TTN 7273 broad.mit.edu 37 2 179567460 179567460 + Intron SNP C T T 2012-1351:2012-338-T g.chr2:179567460C>T uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_5'Flank NM_133378 NP_596869 STAT1 6772 broad.mit.edu 37 2 191839976 191839976 + Intron SNP C T T rs1914408 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr2:191839976C>T uc002usj.2 - STAT1_uc010fse.1_Intron NM_007315 NP_009330 STAT1 6772 broad.mit.edu 37 2 191843830 191843830 + Intron SNP A G G rs2280235 by1000genomes 2012-1351:2012-338-T g.chr2:191843830A>G uc002usj.2 - STAT1_uc010fse.1_Intron|STAT1_uc002usk.2_Intron|STAT1_uc002usl.2_Intron NM_007315 NP_009330 STAT1 6772 broad.mit.edu 37 2 191845378 191845378 + Missense_Mutation SNP C A A 2012-1351:2012-338-T g.chr2:191845378C>A uc002usj.2 - 19 1988 c.1600G>T c.(1600-1602)GAT>TAT p.D534Y STAT1_uc010fse.1_Missense_Mutation_p.D534Y|STAT1_uc002usk.2_Missense_Mutation_p.D534Y|STAT1_uc002usl.2_Missense_Mutation_p.D536Y|STAT1_uc010fsf.1_Missense_Mutation_p.D346Y NM_007315 NP_009330 STAT1 6772 broad.mit.edu 37 2 191878487 191878487 + Intron SNP T C C rs41430444 by1000genomes 2012-1351:2012-338-T g.chr2:191878487T>C uc002usj.2 - STAT1_uc010fse.1_5'UTR|STAT1_uc002usk.2_Intron|STAT1_uc002usl.2_Intron|STAT1_uc010fsf.1_Intron NM_007315 NP_009330 CASP8 841 broad.mit.edu 37 2 202126863 202126863 + Intron SNP T C C rs4381764 by1000genomes 2012-1351:2012-338-T g.chr2:202126863T>C uc002uxr.1 + CASP8_uc010ftc.1_Intron|CASP8_uc002uxo.1_Intron|CASP8_uc002uxp.1_Intron|CASP8_uc002uxq.1_Intron|CASP8_uc002uxs.1_Intron|CASP8_uc002uxt.1_Intron|CASP8_uc002uxu.1_Intron|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Intron|CASP8_uc002uxw.1_Intron NM_033355 NP_203519 MAP2 4133 broad.mit.edu 37 2 210526247 210526247 + Intron SNP T C C rs3768833 by1000genomes 2012-1351:2012-338-T g.chr2:210526247T>C uc002vde.1 + MAP2_uc002vdc.1_Intron|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Intron NM_002374 NP_002365 MAP2 4133 broad.mit.edu 37 2 210596825 210596825 + 3'UTR SNP T C C rs76792277 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr2:210596825T>C uc002vde.1 + 15 MAP2_uc002vdd.1_3'UTR|MAP2_uc002vdf.1_3'UTR|MAP2_uc002vdg.1_3'UTR|MAP2_uc002vdh.1_3'UTR|MAP2_uc002vdi.1_3'UTR NM_002374 NP_002365 HDAC4 9759 broad.mit.edu 37 2 240154290 240154290 + Intron SNP T G G 2012-1351:2012-338-T g.chr2:240154290T>G uc002vyk.3 - HDAC4_uc010fyz.1_Intron|HDAC4_uc010zoa.1_Intron|HDAC4_uc010fza.2_Intron|HDAC4_uc002vyl.1_Intron NM_006037 NP_006028 PRR21 643905 broad.mit.edu 37 2 240982111 240982111 + Missense_Mutation SNP A C C 2012-1351:2012-338-T g.chr2:240982111A>C uc010zod.1 - 1 289 c.289T>G c.(289-291)TTC>GTC p.F97V NM_001080835 NP_001074304 PAK7 57144 broad.mit.edu 37 20 9692033 9692033 + 5'UTR SNP C T T rs2423432 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr20:9692033C>T uc002wnl.2 - 3 PAK7_uc002wnk.2_5'UTR|PAK7_uc002wnj.2_5'UTR|PAK7_uc010gby.1_5'UTR NM_020341 NP_065074 PAK7 57144 broad.mit.edu 37 20 9799510 9799510 + Intron SNP G C C rs3761162 by1000genomes 2012-1351:2012-338-T g.chr20:9799510G>C uc002wnl.2 - PAK7_uc002wnk.2_Intron|PAK7_uc002wnj.2_Intron|PAK7_uc010gby.1_Intron NM_020341 NP_065074 ADAMTS5 11096 broad.mit.edu 37 21 28338964 28338964 + 5'UTR SNP G A A rs11427798 2012-1351:2012-338-T g.chr21:28338964G>A uc002ymg.2 - 1 NM_007038 NP_008969 RIPK4 54101 broad.mit.edu 37 21 43185980 43185980 + Intron SNP C T T rs3787962 by1000genomes 2012-1351:2012-338-T g.chr21:43185980C>T uc002yzn.1 - NM_020639 NP_065690 CECR5 27440 broad.mit.edu 37 22 17628032 17628032 + Intron SNP C T T rs1316053 2012-1351:2012-338-T g.chr22:17628032C>T uc002zmf.2 - CECR5_uc002zme.2_Intron|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Intron NM_033070 NP_149061 EP300 2033 broad.mit.edu 37 22 41566595 41566595 + Intron SNP C T T rs6002271 by1000genomes 2012-1351:2012-338-T g.chr22:41566595C>T uc003azl.3 + NM_001429 NP_001420 CIDEC 63924 broad.mit.edu 37 3 10028988 10028988 + Intron SNP C A A rs28366039 by1000genomes 2012-1351:2012-338-T g.chr3:10028988C>A uc003bto.2 - TMEM111_uc003bun.2_5'Flank|TMEM111_uc003buo.2_5'Flank|uc003bup.1_Intron|uc003buq.1_Intron CIDEC 63924 broad.mit.edu 37 3 10029763 10029763 + Intron SNP C T T 2012-1351:2012-338-T g.chr3:10029763C>T uc003bto.2 - TMEM111_uc003bun.2_5'Flank|TMEM111_uc003buo.2_5'Flank|uc003bup.1_Intron|uc003buq.1_Intron FANCD2 2177 broad.mit.edu 37 3 10067972 10067972 + 5'Flank SNP C T T rs17032268 by1000genomes 2012-1351:2012-338-T g.chr3:10067972C>T uc003buw.2 + CIDEC_uc003bto.2_5'Flank|FANCD2_uc003bux.1_5'Flank|FANCD2_uc003buy.1_5'Flank|CIDECP_uc003bus.2_5'Flank|CIDECP_uc003but.2_5'Flank|CIDECP_uc003buu.1_5'Flank|FANCD2_uc003buv.2_5'Flank NM_033084 NP_149075 FANCD2 2177 broad.mit.edu 37 3 10073824 10073824 + Intron SNP G C C rs6414438 by1000genomes 2012-1351:2012-338-T g.chr3:10073824G>C uc003buw.2 + FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc003buv.2_Intron NM_033084 NP_149075 FANCD2 2177 broad.mit.edu 37 3 10081545 10081545 + Intron SNP G C C rs17032283 by1000genomes 2012-1351:2012-338-T g.chr3:10081545G>C uc003buw.2 + FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc003buv.2_Silent_p.L237L NM_033084 NP_149075 FANCD2 2177 broad.mit.edu 37 3 10084224 10084224 + Intron SNP C T T rs9879080 by1000genomes 2012-1351:2012-338-T g.chr3:10084224C>T uc003buw.2 + FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron NM_033084 NP_149075 FANCD2 2177 broad.mit.edu 37 3 10088016 10088016 + Intron SNP T C C rs35208474 by1000genomes 2012-1351:2012-338-T g.chr3:10088016T>C uc003buw.2 + FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron NM_033084 NP_149075 FANCD2 2177 broad.mit.edu 37 3 10114802 10114802 + Intron SNP T C C rs9824585 by1000genomes 2012-1351:2012-338-T g.chr3:10114802T>C uc003buw.2 + FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron NM_033084 NP_149075 FANCD2 2177 broad.mit.edu 37 3 10133949 10133949 + Intron SNP A G G rs9811771 by1000genomes 2012-1351:2012-338-T g.chr3:10133949A>G uc003buw.2 + FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron|C3orf24_uc003buz.2_Intron NM_033084 NP_149075 FANCD2 2177 broad.mit.edu 37 3 10138189 10138189 + Intron SNP T C C rs2272124 by1000genomes 2012-1351:2012-338-T g.chr3:10138189T>C uc003buw.2 + FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron|C3orf24_uc003buz.2_Intron NM_033084 NP_149075 FANCD2 2177 broad.mit.edu 37 3 10140671 10140671 + 3'UTR SNP G A A rs7626117 by1000genomes 2012-1351:2012-338-T g.chr3:10140671G>A uc003buw.2 + 43 FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron|C3orf24_uc003buz.2_Intron NM_033084 NP_149075 FANCD2 2177 broad.mit.edu 37 3 10140696 10140696 + 3'UTR SNP A G G rs7647987 by1000genomes 2012-1351:2012-338-T g.chr3:10140696A>G uc003buw.2 + 43 FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron|C3orf24_uc003buz.2_Intron NM_033084 NP_149075 BBX 56987 broad.mit.edu 37 3 107245533 107245533 + Intron SNP G A A rs595176 by1000genomes 2012-1351:2012-338-T g.chr3:107245533G>A uc010hpr.2 + BBX_uc003dwk.3_Intron|BBX_uc003dwl.3_Intron NM_001142568 NP_001136040 BBX 56987 broad.mit.edu 37 3 107447857 107447857 + Intron SNP T A A rs3761963 by1000genomes 2012-1351:2012-338-T g.chr3:107447857T>A uc010hpr.2 + BBX_uc003dwk.3_Intron|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Intron|BBX_uc003dwm.3_Intron NM_001142568 NP_001136040 TP63 8626 broad.mit.edu 37 3 189456729 189456729 + Intron SNP C G G rs4686525 by1000genomes 2012-1351:2012-338-T g.chr3:189456729C>G uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron NM_003722 NP_003713 TP63 8626 broad.mit.edu 37 3 189582241 189582241 + Intron SNP T G G rs17514215 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr3:189582241T>G uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsa.2_Intron|TP63_uc003fsb.2_Intron|TP63_uc003fsc.2_Intron|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Intron NM_003722 NP_003713 TP63 8626 broad.mit.edu 37 3 189582249 189582249 + Intron SNP G A A rs2276792 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr3:189582249G>A uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsa.2_Intron|TP63_uc003fsb.2_Intron|TP63_uc003fsc.2_Intron|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Intron NM_003722 NP_003713 TP63 8626 broad.mit.edu 37 3 189590825 189590825 + Intron SNP G A A rs9840360 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr3:189590825G>A uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsa.2_3'UTR|TP63_uc003fsb.2_Intron|TP63_uc003fsc.2_Intron|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Intron NM_003722 NP_003713 MUC4 4585 broad.mit.edu 37 3 195503639 195503639 + Intron SNP T A A 2012-1351:2012-338-T g.chr3:195503639T>A uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 FGFR3 2261 broad.mit.edu 37 4 1803307 1803307 + Intron SNP T C C rs2305183 by1000genomes 2012-1351:2012-338-T g.chr4:1803307T>C uc003gdr.3 + FGFR3_uc003gdu.2_Intron|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Intron|FGFR3_uc010icb.1_Intron|FGFR3_uc003gdt.1_Intron NM_000142 NP_000133 FGFR3 2261 broad.mit.edu 37 4 1803704 1803704 + Silent SNP T C C rs2234909 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr4:1803704T>C uc003gdr.3 + 7 1138 c.882T>C c.(880-882)AAT>AAC p.N294N FGFR3_uc003gdu.2_Silent_p.N294N|FGFR3_uc003gds.3_Silent_p.N294N|FGFR3_uc003gdq.3_Silent_p.N294N|FGFR3_uc010icb.1_Intron|FGFR3_uc003gdt.1_Silent_p.N136N NM_000142 NP_000133 REST 5978 broad.mit.edu 37 4 57793751 57793751 + Intron SNP G A A rs1105434 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr4:57793751G>A uc003hch.2 + REST_uc003hci.2_Intron|REST_uc010ihf.2_Intron NM_005612 NP_005603 TET2 54790 broad.mit.edu 37 4 106160133 106160133 + Intron SNP G A A rs56185013 by1000genomes 2012-1351:2012-338-T g.chr4:106160133G>A uc003hxk.2 + TET2_uc011cez.1_Intron|TET2_uc003hxj.2_Intron|TET2_uc010ilp.1_Intron|TET2_uc003hxi.1_3'UTR NM_001127208 NP_001120680 TET2 54790 broad.mit.edu 37 4 106190862 106190862 + Silent SNP T C C rs3733609 by1000genomes 2012-1351:2012-338-T g.chr4:106190862T>C uc003hxk.2 + 9 4526 c.4140T>C c.(4138-4140)CAT>CAC p.H1380H TET2_uc011cez.1_Silent_p.H1401H|TET2_uc003hxj.2_RNA NM_001127208 NP_001120680 INPP4B 8821 broad.mit.edu 37 4 143003339 143003339 + Splice_Site SNP C G G 2012-1351:2012-338-T g.chr4:143003339C>G uc003iix.3 - 26 3083 c.2488_splice c.e26-1 p.I830_splice INPP4B_uc003iiw.3_Splice_Site_p.I830_splice|INPP4B_uc011chm.1_Splice_Site|INPP4B_uc011chn.1_Intron|INPP4B_uc011cho.1_Intron NM_003866 NP_003857 INPP4B 8821 broad.mit.edu 37 4 143095042 143095042 + Intron SNP A C C rs10013734 by1000genomes 2012-1351:2012-338-T g.chr4:143095042A>C uc003iix.3 - INPP4B_uc003iiw.3_Intron|INPP4B_uc011chm.1_Intron|INPP4B_uc011chn.1_Intron|INPP4B_uc011cho.1_Intron|INPP4B_uc011chp.1_Intron NM_003866 NP_003857 INPP4B 8821 broad.mit.edu 37 4 143305189 143305189 + Intron SNP A T T rs11944462 by1000genomes 2012-1351:2012-338-T g.chr4:143305189A>T uc003iix.3 - INPP4B_uc003iiw.3_Intron|INPP4B_uc011chm.1_Intron|INPP4B_uc011cho.1_Intron NM_003866 NP_003857 FBXW7 55294 broad.mit.edu 37 4 153252061 153252061 + Intron SNP A G G rs10033601 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr4:153252061A>G uc003ims.2 - FBXW7_uc011cii.1_Intron|FBXW7_uc003imt.2_Intron|FBXW7_uc011cih.1_Intron|FBXW7_uc003imq.2_Intron|FBXW7_uc003imr.2_Intron NM_033632 NP_361014 FBXW7 55294 broad.mit.edu 37 4 153333100 153333100 + Intron SNP T A A rs2292743 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr4:153333100T>A uc003ims.2 - FBXW7_uc011cii.1_Intron|FBXW7_uc003imt.2_Intron|FBXW7_uc003imu.2_Intron NM_033632 NP_361014 FBXW7 55294 broad.mit.edu 37 4 153456102 153456102 + 5'UTR SNP A G G rs1351903 by1000genomes 2012-1351:2012-338-T g.chr4:153456102A>G uc003ims.2 - 1 FBXW7_uc011cii.1_5'UTR|FBXW7_uc003imt.2_5'UTR|FBXW7_uc003imu.2_5'UTR|uc003imv.2_5'Flank NM_033632 NP_361014 FAT1 2195 broad.mit.edu 37 4 187561080 187561080 + Intron SNP A G G rs10001377 by1000genomes 2012-1351:2012-338-T g.chr4:187561080A>G uc003izf.2 - NM_005245 NP_005236 TERT 7015 broad.mit.edu 37 5 1273731 1273731 + Intron SNP C T T 2012-1351:2012-338-T g.chr5:1273731C>T uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 DNAH5 1767 broad.mit.edu 37 5 13753503 13753503 + Missense_Mutation SNP G A A 2012-1351:2012-338-T g.chr5:13753503G>A uc003jfd.2 - 63 10753 c.10711C>T c.(10711-10713)CCT>TCT p.P3571S DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 IL6ST 3572 broad.mit.edu 37 5 55243233 55243233 + Intron SNP T C C rs73756160 by1000genomes 2012-1351:2012-338-T g.chr5:55243233T>C uc003jqq.2 - IL6ST_uc010iwb.2_Intron|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Intron|IL6ST_uc003jqr.2_Intron NM_002184 NP_002175 PIK3R1 5295 broad.mit.edu 37 5 67587994 67587994 + Intron SNP C T T rs113538143 2012-1351:2012-338-T g.chr5:67587994C>T uc003jva.2 + PIK3R1_uc003jvb.2_Intron|PIK3R1_uc003jvc.2_Intron|PIK3R1_uc003jvd.2_Intron|PIK3R1_uc003jve.2_5'UTR|PIK3R1_uc011crb.1_5'Flank NM_181523 NP_852664 RASA1 5921 broad.mit.edu 37 5 86564995 86564995 + Intron SNP T A A rs3734000 by1000genomes 2012-1351:2012-338-T g.chr5:86564995T>A uc003kiw.2 + RASA1_uc010jav.2_Intron|RASA1_uc003kix.2_Intron|RASA1_uc011ctv.1_5'UTR|RASA1_uc011ctw.1_Intron|RASA1_uc010jaw.2_Intron|RASA1_uc011ctu.1_Intron NM_002890 NP_002881 PCDHA13 56136 broad.mit.edu 37 5 140261977 140261977 + Missense_Mutation SNP G A A 2012-1351:2012-338-T g.chr5:140261977G>A uc003lif.2 + 1 124 c.124G>A c.(124-126)GGC>AGC p.G42S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.G42S|PCDHA13_uc003lid.2_Missense_Mutation_p.G42S NM_018904 NP_061727 FAT2 2196 broad.mit.edu 37 5 150917545 150917545 + Intron SNP G A A rs3816007 by1000genomes 2012-1351:2012-338-T g.chr5:150917545G>A uc003lue.3 - GM2A_uc011dcs.1_Intron NM_001447 NP_001438 UNC5A 90249 broad.mit.edu 37 5 176300129 176300129 + Intron SNP A C C rs34082098 2012-1351:2012-338-T g.chr5:176300129A>C uc003mey.2 + UNC5A_uc010jkg.1_Intron NM_133369 NP_588610 FGFR4 2264 broad.mit.edu 37 5 176523354 176523354 + Missense_Mutation SNP G A A 2012-1351:2012-338-T g.chr5:176523354G>A uc003mfl.2 + 15 2178 c.2011G>A c.(2011-2013)GAC>AAC p.D671N FGFR4_uc003mfm.2_Missense_Mutation_p.D671N|FGFR4_uc011dfu.1_Missense_Mutation_p.D603N|FGFR4_uc003mfo.2_Missense_Mutation_p.D631N NM_002011 NP_002002 HLA-F 3134 broad.mit.edu 37 6 29692729 29692729 + Intron SNP T G G rs2072898 by1000genomes 2012-1351:2012-338-T g.chr6:29692729T>G uc010jrl.2 + HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Intron|HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron NM_018950 NP_061823 HLA-F 3134 broad.mit.edu 37 6 29693113 29693113 + Intron SNP C T T rs2076177 by1000genomes 2012-1351:2012-338-T g.chr6:29693113C>T uc010jrl.2 + HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Intron|HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron NM_018950 NP_061823 HLA-F 3134 broad.mit.edu 37 6 29693499 29693499 + Intron SNP A G G rs76517666 2012-1351:2012-338-T g.chr6:29693499A>G uc010jrl.2 + HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Intron|HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron NM_018950 NP_061823 HLA-G 3135 broad.mit.edu 37 6 29794317 29794317 + 5'Flank SNP G A A rs1736936 2012-1351:2012-338-T g.chr6:29794317G>A uc003nnw.2 + HLA-G_uc011dmb.1_5'Flank|HLA-G_uc003raj.3_5'Flank|HLA-G_uc003nnz.3_5'Flank|HLA-G_uc010jrn.2_5'Flank|HLA-G_uc003nny.3_5'Flank NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29794989 29794989 + Intron SNP G A A rs112387540 2012-1351:2012-338-T g.chr6:29794989G>A uc003nnw.2 + HLA-G_uc011dmb.1_5'Flank|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_5'Flank|HLA-G_uc010jrn.2_5'Flank|HLA-G_uc003nny.3_5'Flank|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29795136 29795136 + Intron SNP A C C rs114626623 by1000genomes 2012-1351:2012-338-T g.chr6:29795136A>C uc003nnw.2 + HLA-G_uc011dmb.1_5'Flank|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_5'Flank|HLA-G_uc010jrn.2_5'Flank|HLA-G_uc003nny.3_5'Flank|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29795145 29795145 + Intron SNP C G G rs115740090 by1000genomes 2012-1351:2012-338-T g.chr6:29795145C>G uc003nnw.2 + HLA-G_uc011dmb.1_5'Flank|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_5'Flank|HLA-G_uc010jrn.2_5'Flank|HLA-G_uc003nny.3_5'Flank|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29795253 29795253 + Intron SNP C A A rs1632943 2012-1351:2012-338-T g.chr6:29795253C>A uc003nnw.2 + HLA-G_uc011dmb.1_5'Flank|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_5'Flank|HLA-G_uc010jrn.2_5'Flank|HLA-G_uc003nny.3_5'Flank|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29797782 29797782 + Intron SNP T C C rs1611627 2012-1351:2012-338-T g.chr6:29797782T>C uc003nnw.2 + HLA-G_uc011dmb.1_Intron|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_Intron NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29797899 29797899 + Intron SNP T C C rs1632934 2012-1351:2012-338-T g.chr6:29797899T>C uc003nnw.2 + HLA-G_uc011dmb.1_Intron|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_Intron NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29797933 29797933 + Intron SNP C T T rs116816012 by1000genomes 2012-1351:2012-338-T g.chr6:29797933C>T uc003nnw.2 + HLA-G_uc011dmb.1_Intron|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_Intron NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29797951 29797951 + Intron SNP A G G rs114491387 by1000genomes 2012-1351:2012-338-T g.chr6:29797951A>G uc003nnw.2 + HLA-G_uc011dmb.1_Intron|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_Intron NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29798140 29798140 + Intron SNP A G G rs915667 2012-1351:2012-338-T g.chr6:29798140A>G uc003nnw.2 + HLA-G_uc011dmb.1_Intron|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_Intron NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29798419 29798419 + Intron SNP G A A rs114465251 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr6:29798419G>A uc003nnw.2 + HLA-G_uc011dmb.1_Intron|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_Intron NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29798459 29798459 + Intron SNP C G G rs915668 2012-1351:2012-338-T g.chr6:29798459C>G uc003nnw.2 + HLA-G_uc011dmb.1_Intron|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_Intron NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29798617 29798617 + 3'UTR SNP G C C rs77969756 2012-1351:2012-338-T g.chr6:29798617G>C uc003nnw.2 + 8 HLA-G_uc011dmb.1_Intron|HLA-G_uc003raj.3_3'UTR|HLA-G_uc003nnz.3_3'UTR|HLA-G_uc010jrn.2_3'UTR|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_Intron NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29857424 29857424 + Intron SNP G A A rs1611624 2012-1351:2012-338-T g.chr6:29857424G>A uc011dmb.1 + HLA-H_uc003nod.2_Intron NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29894211 29894211 + Intron SNP C T T rs115472837 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr6:29894211C>T uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HCG4P6_uc003noh.1_5'Flank|uc003noi.2_RNA NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29896925 29896925 + Intron SNP C G G rs113988085 2012-1351:2012-338-T g.chr6:29896925C>G uc011dmb.1 + HCG4P6_uc003nog.1_Intron|uc003noi.2_Intron NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29897412 29897412 + Intron SNP G C C rs1632902 2012-1351:2012-338-T g.chr6:29897412G>C uc011dmb.1 + HCG4P6_uc003nog.1_Intron|uc003noi.2_RNA NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29909071 29909071 + Intron SNP G A A rs112279698 2012-1351:2012-338-T g.chr6:29909071G>A uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'Flank|HLA-A_uc003nok.2_5'Flank|HLA-A_uc003nol.2_5'Flank|HLA-A_uc003non.2_5'Flank|HLA-A_uc003noo.2_5'Flank|HLA-A_uc010jrr.2_5'Flank|HLA-A_uc003nom.2_5'Flank|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank NM_002127 NP_002118 HLA-A 3105 broad.mit.edu 37 6 29912510 29912510 + Intron SNP T G G rs1632885 2012-1351:2012-338-T g.chr6:29912510T>G uc003nol.2 + HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc003nok.2_Intron|HLA-A_uc003non.2_Intron|HLA-A_uc003noo.2_Intron|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_Intron|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_Intron|HLA-A_uc011dmd.1_3'UTR NM_002116 NP_002107 HLA-A 3105 broad.mit.edu 37 6 29913344 29913344 + 3'UTR SNP G A A rs112720956 2012-1351:2012-338-T g.chr6:29913344G>A uc003nol.2 + 8 HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc003non.2_3'UTR|HLA-A_uc003noo.2_3'UTR|HLA-A_uc010jrr.2_3'UTR|HLA-A_uc003nom.2_3'UTR|HLA-A_uc011dmc.1_3'UTR|HLA-A_uc011dmd.1_3'UTR NM_002116 NP_002107 HLA-A 3105 broad.mit.edu 37 6 29913483 29913483 + 3'UTR SNP T C C rs116198299 by1000genomes 2012-1351:2012-338-T g.chr6:29913483T>C uc003nol.2 + 8 HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc003non.2_3'UTR|HLA-A_uc003noo.2_3'UTR|HLA-A_uc010jrr.2_3'UTR|HLA-A_uc003nom.2_3'UTR|HLA-A_uc011dmc.1_3'UTR|HLA-A_uc011dmd.1_3'UTR NM_002116 NP_002107 HLA-G 3135 broad.mit.edu 37 6 29975950 29975950 + Intron SNP C T T rs111332850 2012-1351:2012-338-T g.chr6:29975950C>T uc011dmb.1 + NCRNA00171_uc011dme.1_Intron|HLA-J_uc003nou.3_Intron|HLA-J_uc003rtl.3_Intron|HLA-J_uc003nov.3_Intron NM_002127 NP_002118 HLA-C 3107 broad.mit.edu 37 6 31236854 31236854 + 3'UTR SNP T C C rs112902401 by1000genomes 2012-1351:2012-338-T g.chr6:31236854T>C uc003nsy.2 - 8 HLA-C_uc011dnj.1_3'UTR|HLA-C_uc003nsx.2_3'UTR|HLA-C_uc003nsz.2_3'UTR|HLA-C_uc010jsl.2_Missense_Mutation_p.T397A|HLA-C_uc003nta.2_3'UTR|HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_Intron NM_002117 NP_002108 HLA-C 3107 broad.mit.edu 37 6 31237255 31237255 + Intron SNP G A A rs2523609 2012-1351:2012-338-T g.chr6:31237255G>A uc003nsy.2 - HLA-C_uc011dnj.1_Intron|HLA-C_uc003nsx.2_Intron|HLA-C_uc003nsz.2_Intron|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Intron|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron NM_002117 NP_002108 HLA-B 3106 broad.mit.edu 37 6 31321915 31321916 + 3'UTR DNP AA GG GG rs1055890;rs1055849 by1000genomes;by1000genomes 2012-1351:2012-338-T g.chr6:31321915_31321916AA>GG uc003nth.2 - 8 HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_3'UTR NM_005514 NP_005505 HLA-B 3106 broad.mit.edu 37 6 31322459 31322459 + Intron SNP T C C rs2507992 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr6:31322459T>C uc003nth.2 - HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Intron|HLA-B_uc003nti.1_Intron NM_005514 NP_005505 HLA-B 3106 broad.mit.edu 37 6 31324415 31324415 + Intron SNP A C C rs2507989 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr6:31324415A>C uc003nth.2 - HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_5'UTR|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_Intron NM_005514 NP_005505 TAP2 6891 broad.mit.edu 37 6 32798350 32798350 + Intron SNP A C C rs9380327 by1000genomes 2012-1351:2012-338-T g.chr6:32798350A>C uc003occ.2 - TAP2_uc011dqf.1_Intron|TAP2_uc003ocb.1_Intron|TAP2_uc003ocd.2_Intron NM_018833 NP_061313 TAP1 6890 broad.mit.edu 37 6 32818678 32818678 + Intron SNP G A A rs2071538 by1000genomes 2012-1351:2012-338-T g.chr6:32818678G>A uc003ocg.2 - TAP1_uc011dqi.1_Intron NM_000593 NP_000584 FANCE 2178 broad.mit.edu 37 6 35425263 35425263 + Intron SNP G A A rs9470033 by1000genomes 2012-1351:2012-338-T g.chr6:35425263G>A uc003oko.1 + FANCE_uc010jvw.1_Intron NM_021922 NP_068741 DST 667 broad.mit.edu 37 6 56484817 56484817 + Intron SNP G A A 2012-1351:2012-338-T g.chr6:56484817G>A uc003pdf.2 - DST_uc003pcz.3_Intron|DST_uc011dxj.1_Intron|DST_uc011dxk.1_Intron|DST_uc003pcy.3_Intron|DST_uc003pdb.2_Intron|DST_uc003pdc.3_Missense_Mutation_p.P1339S NM_001144769 NP_001138241 ME1 4199 broad.mit.edu 37 6 84055876 84055876 + Intron SNP G A A 2012-1351:2012-338-T g.chr6:84055876G>A uc003pjy.2 - ME1_uc011dzb.1_Intron|ME1_uc011dzc.1_Intron NM_002395 NP_002386 ROS1 6098 broad.mit.edu 37 6 117622028 117622028 + Intron SNP A G G rs62430805 by1000genomes 2012-1351:2012-338-T g.chr6:117622028A>G uc003pxp.1 - ROS1_uc011ebi.1_Intron NM_002944 NP_002935 ROS1 6098 broad.mit.edu 37 6 117649988 117649988 + Intron SNP T C C rs581235 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr6:117649988T>C uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 ROS1 6098 broad.mit.edu 37 6 117714346 117714346 + Intron SNP C G G rs1535330 by1000genomes 2012-1351:2012-338-T g.chr6:117714346C>G uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 ROS1 6098 broad.mit.edu 37 6 117718303 117718303 + Intron SNP A G G rs9401003 by1000genomes 2012-1351:2012-338-T g.chr6:117718303A>G uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 ROS1 6098 broad.mit.edu 37 6 117730819 117730819 + Intron SNP G A A rs2273601 by1000genomes 2012-1351:2012-338-T g.chr6:117730819G>A uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 ROS1 6098 broad.mit.edu 37 6 117737390 117737390 + Intron SNP G A A rs2243 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr6:117737390G>A uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 SYNE1 23345 broad.mit.edu 37 6 152522812 152522812 + Intron SNP T G G rs2673776 by1000genomes 2012-1351:2012-338-T g.chr6:152522812T>G uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152523143 152523143 + Intron SNP G A A rs2635441 by1000genomes 2012-1351:2012-338-T g.chr6:152523143G>A uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152534947 152534947 + Intron SNP T A A rs2763029 by1000genomes 2012-1351:2012-338-T g.chr6:152534947T>A uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152560916 152560916 + Intron SNP G A A rs9479275 by1000genomes 2012-1351:2012-338-T g.chr6:152560916G>A uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152603139 152603139 + Intron SNP T C C rs9478310 by1000genomes 2012-1351:2012-338-T g.chr6:152603139T>C uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kiy.1_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152707063 152707063 + Intron SNP C T T rs9478329 by1000genomes 2012-1351:2012-338-T g.chr6:152707063C>T uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron NM_182961 NP_892006 RAC1 5879 broad.mit.edu 37 7 6415613 6415613 + Intron SNP A C C rs34762204 by1000genomes 2012-1351:2012-338-T g.chr7:6415613A>C uc003spx.2 + RAC1_uc003spw.2_Intron NM_006908 NP_008839 ETV1 2115 broad.mit.edu 37 7 13949199 13949199 + Intron SNP G A A 2012-1351:2012-338-T g.chr7:13949199G>A uc011jxq.1 - ETV1_uc011jxn.1_Intron|ETV1_uc011jxo.1_Intron|ETV1_uc011jxp.1_Intron|ETV1_uc003ssw.3_Intron|ETV1_uc003ssx.2_Intron|ETV1_uc011jxr.1_Intron|ETV1_uc011jxs.1_Intron|ETV1_uc010ktv.2_Intron NM_004956 NP_004947 PIK3CG 5294 broad.mit.edu 37 7 106510076 106510076 + Intron SNP A G G rs1526083 byFrequency;by1000genomes 2012-1351:2012-338-T g.chr7:106510076A>G uc003vdv.3 + PIK3CG_uc003vdu.2_Intron|PIK3CG_uc003vdw.2_Intron NM_002649 NP_002640 PIK3CG 5294 broad.mit.edu 37 7 106521651 106521651 + Intron SNP C T T 2012-1351:2012-338-T g.chr7:106521651C>T uc003vdv.3 + PIK3CG_uc003vdu.2_Intron|PIK3CG_uc003vdw.2_Intron NM_002649 NP_002640 PTPRN2 5799 broad.mit.edu 37 7 157918811 157918811 + Intron SNP A G G 2012-1351:2012-338-T g.chr7:157918811A>G uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158234573 158234573 + Intron SNP A G G rs28477315 2012-1351:2012-338-T g.chr7:158234573A>G uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 NECAB1 64168 broad.mit.edu 37 8 91940311 91940311 + Intron SNP C T T rs7006863 by1000genomes 2012-1351:2012-338-T g.chr8:91940311C>T uc011lgg.1 + NM_022351 NP_071746 NECAB1 64168 broad.mit.edu 37 8 91967800 91967800 + 3'UTR SNP G A A rs73694346 by1000genomes 2012-1351:2012-338-T g.chr8:91967800G>A uc011lgg.1 + 13 NECAB1_uc003yer.2_3'UTR NM_022351 NP_071746 UBR5 51366 broad.mit.edu 37 8 103269703 103269703 + Intron SNP T C C rs73283374 by1000genomes 2012-1351:2012-338-T g.chr8:103269703T>C uc003ykr.1 - UBR5_uc003yks.1_Intron|UBR5_uc003ykq.2_Intron NM_015902 NP_056986 UBR5 51366 broad.mit.edu 37 8 103282518 103282518 + Intron SNP A G G rs2978431 by1000genomes 2012-1351:2012-338-T g.chr8:103282518A>G uc003ykr.1 - UBR5_uc003yks.1_Intron|UBR5_uc003ykq.2_5'Flank NM_015902 NP_056986 UBR5 51366 broad.mit.edu 37 8 103311667 103311667 + Intron SNP T G G rs36178006 by1000genomes 2012-1351:2012-338-T g.chr8:103311667T>G uc003ykr.1 - UBR5_uc003yks.1_Intron NM_015902 NP_056986 UBR5 51366 broad.mit.edu 37 8 103317265 103317265 + Intron SNP A T T rs3018537 by1000genomes 2012-1351:2012-338-T g.chr8:103317265A>T uc003ykr.1 - UBR5_uc003yks.1_Intron NM_015902 NP_056986 DPYS 1807 broad.mit.edu 37 8 105404863 105404863 + Intron SNP T C C rs12675680 by1000genomes 2012-1351:2012-338-T g.chr8:105404863T>C uc003yly.3 - DPYS_uc010mcf.1_Intron NM_001385 NP_001376 CSMD3 114788 broad.mit.edu 37 8 113267771 113267771 + Intron SNP T C C rs1861753 by1000genomes 2012-1351:2012-338-T g.chr8:113267771T>C uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113364574 113364574 + Intron SNP T C C rs11775013 by1000genomes 2012-1351:2012-338-T g.chr8:113364574T>C uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113485014 113485014 + Intron SNP A C C rs11783041 by1000genomes 2012-1351:2012-338-T g.chr8:113485014A>C uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113529233 113529233 + Intron SNP A G G rs2853244 by1000genomes 2012-1351:2012-338-T g.chr8:113529233A>G uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113599207 113599207 + Intron SNP A G G rs7460155 by1000genomes 2012-1351:2012-338-T g.chr8:113599207A>G uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113599612 113599612 + Intron SNP T C C rs7463638 by1000genomes 2012-1351:2012-338-T g.chr8:113599612T>C uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113648931 113648931 + Intron SNP T C C rs4538917 by1000genomes 2012-1351:2012-338-T g.chr8:113648931T>C uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 TRAPPC9 83696 broad.mit.edu 37 8 141120653 141120653 + Intron SNP A G G 2012-1351:2012-338-T g.chr8:141120653A>G uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 CD274 29126 broad.mit.edu 37 9 5463243 5463243 + Intron SNP G A A rs7041009 by1000genomes 2012-1351:2012-338-T g.chr9:5463243G>A uc003zje.2 + C9orf46_uc003zjd.2_Intron|CD274_uc011lmb.1_Intron|CD274_uc010mhn.2_Intron|CD274_uc003zjf.2_Intron NM_014143 NP_054862 CD274 29126 broad.mit.edu 37 9 5465732 5465732 + Intron SNP G A A rs2297137 by1000genomes 2012-1351:2012-338-T g.chr9:5465732G>A uc003zje.2 + C9orf46_uc003zjd.2_Intron|CD274_uc011lmb.1_3'UTR|CD274_uc010mhn.2_Intron|CD274_uc003zjf.2_Intron NM_014143 NP_054862 CD274 29126 broad.mit.edu 37 9 5468257 5468257 + 3'UTR SNP G C C rs4143815 by1000genomes 2012-1351:2012-338-T g.chr9:5468257G>C uc003zje.2 + 7 C9orf46_uc003zjd.2_Intron|CD274_uc010mhn.2_RNA|CD274_uc003zjf.2_3'UTR NM_014143 NP_054862 C9orf46 55848 broad.mit.edu 37 9 5470497 5470497 + Intron SNP A G G rs4742098 by1000genomes 2012-1351:2012-338-T g.chr9:5470497A>G uc003zjd.2 - NM_018465 NP_060935 FANCG 2189 broad.mit.edu 37 9 35077203 35077203 + Intron SNP G A A rs17885726 by1000genomes 2012-1351:2012-338-T g.chr9:35077203G>A uc003zwb.1 - FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_Intron|FANCG_uc011lot.1_Intron NM_004629 NP_004620 FANCC 2176 broad.mit.edu 37 9 97873339 97873339 + Intron SNP G A A rs879492 by1000genomes 2012-1351:2012-338-T g.chr9:97873339G>A uc004avh.2 - FANCC_uc004avi.3_3'UTR NM_000136 NP_000127 FANCC 2176 broad.mit.edu 37 9 97873435 97873435 + Intron SNP G A A rs2404457 by1000genomes 2012-1351:2012-338-T g.chr9:97873435G>A uc004avh.2 - FANCC_uc004avi.3_3'UTR NM_000136 NP_000127 FANCC 2176 broad.mit.edu 37 9 97873957 97873957 + Intron SNP A G G rs4647534 by1000genomes 2012-1351:2012-338-T g.chr9:97873957A>G uc004avh.2 - FANCC_uc004avi.3_Intron NM_000136 NP_000127 FANCC 2176 broad.mit.edu 37 9 97933252 97933252 + Intron SNP T C C rs3737142 by1000genomes 2012-1351:2012-338-T g.chr9:97933252T>C uc004avh.2 - FANCC_uc004avi.3_Intron|FANCC_uc010mrm.1_Intron|FANCC_uc011lul.1_Intron NM_000136 NP_000127 TSC1 7248 broad.mit.edu 37 9 135776034 135776034 + Intron SNP C T T rs1076160 by1000genomes 2012-1351:2012-338-T g.chr9:135776034C>T uc004cca.2 - TSC1_uc004ccb.3_Intron|TSC1_uc011mcq.1_Intron|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 NOTCH1 4851 broad.mit.edu 37 9 139393162 139393162 + Intron SNP G A A rs3124592 by1000genomes 2012-1351:2012-338-T g.chr9:139393162G>A uc004chz.2 - NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139393175 139393175 + Intron SNP A G G rs3124593 by1000genomes 2012-1351:2012-338-T g.chr9:139393175A>G uc004chz.2 - NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139395473 139395473 + Intron SNP C T T rs3124999 by1000genomes 2012-1351:2012-338-T g.chr9:139395473C>T uc004chz.2 - NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139396408 139396408 + Intron SNP A G G rs3124594 by1000genomes 2012-1351:2012-338-T g.chr9:139396408A>G uc004chz.2 - NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139397557 139397557 + Intron SNP C G G rs34383263 by1000genomes 2012-1351:2012-338-T g.chr9:139397557C>G uc004chz.2 - NOTCH1_uc004cia.1_Silent_p.L978L NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139397707 139397707 + Silent SNP G A A rs10521 by1000genomes 2012-1351:2012-338-T g.chr9:139397707G>A uc004chz.2 - 27 5094 c.5094C>T c.(5092-5094)GAC>GAT p.D1698D NOTCH1_uc004cia.1_Silent_p.D928D NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139400406 139400406 + Intron SNP C T T rs11145764 by1000genomes 2012-1351:2012-338-T g.chr9:139400406C>T uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139400904 139400904 + Intron SNP C T T rs4880098 by1000genomes 2012-1351:2012-338-T g.chr9:139400904C>T uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139401504 139401504 + Intron SNP G A A rs3124596 by1000genomes 2012-1351:2012-338-T g.chr9:139401504G>A uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139401577 139401577 + Intron SNP C G G rs3829116 by1000genomes 2012-1351:2012-338-T g.chr9:139401577C>G uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139402663 139402663 + Intron SNP T C C rs3124597 by1000genomes 2012-1351:2012-338-T g.chr9:139402663T>C uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139402908 139402908 + Intron SNP T C C rs3812603 by1000genomes 2012-1351:2012-338-T g.chr9:139402908T>C uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139402959 139402959 + Intron SNP A G G rs3812604 by1000genomes 2012-1351:2012-338-T g.chr9:139402959A>G uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139403268 139403268 + Intron SNP T C C rs3125000 by1000genomes 2012-1351:2012-338-T g.chr9:139403268T>C uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139403280 139403280 + Intron SNP C T T rs11145765 by1000genomes 2012-1351:2012-338-T g.chr9:139403280C>T uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139403554 139403554 + Intron SNP T C C rs3124598 by1000genomes 2012-1351:2012-338-T g.chr9:139403554T>C uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139405361 139405361 + Intron SNP A G G rs3125002 by1000genomes 2012-1351:2012-338-T g.chr9:139405361A>G uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139405501 139405501 + Intron SNP A G G rs9411206 by1000genomes 2012-1351:2012-338-T g.chr9:139405501A>G uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139408756 139408756 + Intron SNP A G G rs3125005 by1000genomes 2012-1351:2012-338-T g.chr9:139408756A>G uc004chz.2 - NOTCH1_uc004cia.1_5'Flank NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139408892 139408892 + Intron SNP C T T rs3812609 by1000genomes 2012-1351:2012-338-T g.chr9:139408892C>T uc004chz.2 - NOTCH1_uc004cia.1_5'Flank NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139409648 139409648 + Intron SNP G A A rs62579232 by1000genomes 2012-1351:2012-338-T g.chr9:139409648G>A uc004chz.2 - NOTCH1_uc004cia.1_5'Flank NM_017617 NP_060087 NOTCH1 4851 broad.mit.edu 37 9 139411880 139411880 + Intron SNP G A A rs9411254 by1000genomes 2012-1351:2012-338-T g.chr9:139411880G>A uc004chz.2 - NM_017617 NP_060087 PPP2R3B 28227 broad.mit.edu 37 X 304908 304908 + Intron SNP A G G 2012-1351:2012-338-T g.chrX:304908A>G uc004cpg.2 - PPP2R3B_uc004cpf.2_5'Flank NM_013239 NP_037371 HUWE1 10075 broad.mit.edu 37 X 53607754 53607754 + Intron SNP A C C rs266786 by1000genomes 2012-1351:2012-338-T g.chrX:53607754A>C uc004dsp.2 - HUWE1_uc004dsn.2_Intron NM_031407 NP_113584 HUWE1 10075 broad.mit.edu 37 X 53622078 53622078 + Intron SNP T A A rs1244413 by1000genomes 2012-1351:2012-338-T g.chrX:53622078T>A uc004dsp.2 - HUWE1_uc004dsn.2_5'Flank NM_031407 NP_113584 HEPH 9843 broad.mit.edu 37 X 65382685 65382685 + 5'UTR SNP T C C rs5919015 by1000genomes 2012-1351:2012-338-T g.chrX:65382685T>C uc011moz.1 + 1 HEPH_uc004dwn.2_5'Flank|HEPH_uc004dwo.2_5'Flank|HEPH_uc010nkr.2_5'Flank NM_138737 NP_620074 HEPH 9843 broad.mit.edu 37 X 65389932 65389932 + Intron SNP G A A rs60273039 by1000genomes 2012-1351:2012-338-T g.chrX:65389932G>A uc011moz.1 + HEPH_uc004dwn.2_Intron|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_5'UTR NM_138737 NP_620074 HEPH 9843 broad.mit.edu 37 X 65390593 65390593 + Intron SNP C A A rs137910006 by1000genomes 2012-1351:2012-338-T g.chrX:65390593C>A uc011moz.1 + HEPH_uc004dwn.2_Intron|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Intron NM_138737 NP_620074 HEPH 9843 broad.mit.edu 37 X 65390966 65390966 + Intron SNP C A A rs5965106 by1000genomes 2012-1351:2012-338-T g.chrX:65390966C>A uc011moz.1 + HEPH_uc004dwn.2_Intron|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Intron NM_138737 NP_620074 HEPH 9843 broad.mit.edu 37 X 65408445 65408445 + Intron SNP C T T rs6624875 by1000genomes 2012-1351:2012-338-T g.chrX:65408445C>T uc011moz.1 + HEPH_uc004dwn.2_Intron|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Intron NM_138737 NP_620074 NRK 203447 broad.mit.edu 37 X 105152727 105152727 + Missense_Mutation SNP C T T 2012-1351:2012-338-T g.chrX:105152727C>T uc004emd.2 + 13 1397 c.1094C>T c.(1093-1095)TCT>TTT p.S365F NRK_uc010npc.1_Missense_Mutation_p.S33F NM_198465 NP_940867 NKAP 79576 broad.mit.edu 37 X 119070411 119070411 + Intron SNP T A A rs112414769 2012-1351:2012-338-T g.chrX:119070411T>A uc004esh.2 - NKAP_uc004esg.2_Intron NM_024528 NP_078804 SCNN1D 6339 broad.mit.edu 37 1 1223882 1223882 + Intron SNP T C C 2012-1356:2012-351-T g.chr1:1223882T>C uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 CASZ1 54897 broad.mit.edu 37 1 10776094 10776094 + Intron SNP A C C 2012-1356:2012-351-T g.chr1:10776094A>C uc001aro.2 - CASZ1_uc001arp.1_Intron NM_001079843 NP_001073312 PTCHD2 57540 broad.mit.edu 37 1 11582858 11582858 + Intron SNP C A A 2012-1356:2012-351-T g.chr1:11582858C>A uc001ash.3 + PTCHD2_uc001asi.1_Intron NM_020780 NP_065831 FLG 2312 broad.mit.edu 37 1 152281671 152281671 + Missense_Mutation SNP G T T 2012-1356:2012-351-T g.chr1:152281671G>T uc001ezu.1 - 3 5727 c.5691C>A c.(5689-5691)CAC>CAA p.H1897Q NM_002016 NP_002007 SMYD3 64754 broad.mit.edu 37 1 246139487 246139487 + Intron SNP G A A 2012-1356:2012-351-T g.chr1:246139487G>A uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 OR8H1 219469 broad.mit.edu 37 11 56058521 56058521 + Missense_Mutation SNP G T T 2012-1356:2012-351-T g.chr11:56058521G>T uc010rje.1 - 1 18 c.18C>A c.(16-18)AAC>AAA p.N6K NM_001005199 NP_001005199 MTA2 9219 broad.mit.edu 37 11 62364110 62364110 + Missense_Mutation SNP A G G 2012-1356:2012-351-T g.chr11:62364110A>G uc001ntq.1 - 9 1262 c.881T>C c.(880-882)TTT>TCT p.F294S MTA2_uc010rlx.1_Missense_Mutation_p.F121S NM_004739 NP_004730 MACROD1 28992 broad.mit.edu 37 11 63777552 63777552 + Intron SNP A G G 2012-1356:2012-351-T g.chr11:63777552A>G uc001nyh.2 - NM_014067 NP_054786 B4GALNT3 283358 broad.mit.edu 37 12 620885 620885 + Intron SNP C T T 2012-1356:2012-351-T g.chr12:620885C>T uc001qii.1 + NM_173593 NP_775864 MLL2 8085 broad.mit.edu 37 12 49424059 49424059 + Intron SNP T C C 2012-1356:2012-351-T g.chr12:49424059T>C uc001rta.3 - NM_003482 NP_003473 TMEM120B 144404 broad.mit.edu 37 12 122185451 122185451 + Intron SNP C T T 2012-1356:2012-351-T g.chr12:122185451C>T uc001ubc.3 + TMEM120B_uc009zxh.2_Intron NM_001080825 NP_001074294 GALNT9 50614 broad.mit.edu 37 12 132881968 132881968 + Intron SNP C G G 2012-1356:2012-351-T g.chr12:132881968C>G uc001ukc.3 - GALNT9_uc009zys.2_Intron NM_001122636 NP_001116108 ATP11A 23250 broad.mit.edu 37 13 113527683 113527683 + Intron SNP G A A rs61961612 by1000genomes 2012-1356:2012-351-T g.chr13:113527683G>A uc001vsi.3 + ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_Intron NM_015205 NP_056020 F7 2155 broad.mit.edu 37 13 113761653 113761653 + Intron SNP G A A 2012-1356:2012-351-T g.chr13:113761653G>A uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 F7 2155 broad.mit.edu 37 13 113762077 113762077 + Intron SNP C G G 2012-1356:2012-351-T g.chr13:113762077C>G uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 GRK1 6011 broad.mit.edu 37 13 114431122 114431122 + Intron SNP G A A 2012-1356:2012-351-T g.chr13:114431122G>A uc010tkf.1 + NM_002929 NP_002920 TRIP11 9321 broad.mit.edu 37 14 92506677 92506677 + 5'UTR SNP C T T 2012-1356:2012-351-T g.chr14:92506677C>T uc001xzy.2 - 1 TRIP11_uc001xzz.3_RNA NM_004239 NP_004230 ATP10A 57194 broad.mit.edu 37 15 26003909 26003909 + Intron SNP G T T 2012-1356:2012-351-T g.chr15:26003909G>T uc010ayu.2 - NM_024490 NP_077816 LMF1 64788 broad.mit.edu 37 16 907583 907583 + Intron SNP C T T rs144035372 2012-1356:2012-351-T g.chr16:907583C>T uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 907606 907606 + Intron SNP C T T 2012-1356:2012-351-T g.chr16:907606C>T uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 C1QTNF8 390664 broad.mit.edu 37 16 1143110 1143110 + Intron SNP C T T 2012-1356:2012-351-T g.chr16:1143110C>T uc010uuw.1 - NM_207419 NP_997302 TP53 7157 broad.mit.edu 37 17 7578188 7578188 + Nonsense_Mutation SNP C A A 2012-1356:2012-351-T g.chr17:7578188C>A uc002gim.2 - 6 855 c.661G>T c.(661-663)GAG>TAG p.E221* TP53_uc002gig.1_Nonsense_Mutation_p.E221*|TP53_uc002gih.2_Nonsense_Mutation_p.E221*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E89*|TP53_uc010cng.1_Nonsense_Mutation_p.E89*|TP53_uc002gii.1_Nonsense_Mutation_p.E89*|TP53_uc010cnh.1_Nonsense_Mutation_p.E221*|TP53_uc010cni.1_Nonsense_Mutation_p.E221*|TP53_uc002gij.2_Nonsense_Mutation_p.E221*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.E128*|TP53_uc002gio.2_Nonsense_Mutation_p.E89*|TP53_uc010vug.1_Nonsense_Mutation_p.E182* NM_001126112 NP_001119584 PRKCA 5578 broad.mit.edu 37 17 64795197 64795197 + Intron SNP G A A 2012-1356:2012-351-T g.chr17:64795197G>A uc002jfp.1 + NM_002737 NP_002728 PRKCA 5578 broad.mit.edu 37 17 64795431 64795431 + Intron SNP G A A 2012-1356:2012-351-T g.chr17:64795431G>A uc002jfp.1 + NM_002737 NP_002728 PRKCA 5578 broad.mit.edu 37 17 64795437 64795437 + Intron SNP A G G 2012-1356:2012-351-T g.chr17:64795437A>G uc002jfp.1 + NM_002737 NP_002728 PRKCA 5578 broad.mit.edu 37 17 64795452 64795452 + Intron SNP A G G 2012-1356:2012-351-T g.chr17:64795452A>G uc002jfp.1 + NM_002737 NP_002728 PRKCA 5578 broad.mit.edu 37 17 64795458 64795458 + Intron SNP G A A 2012-1356:2012-351-T g.chr17:64795458G>A uc002jfp.1 + NM_002737 NP_002728 GALR1 2587 broad.mit.edu 37 18 74964894 74964894 + Intron SNP C T T 2012-1356:2012-351-T g.chr18:74964894C>T uc002lms.3 + NM_001480 NP_001471 ETFB 2109 broad.mit.edu 37 19 51849228 51849228 + Intron SNP C T T 2012-1356:2012-351-T g.chr19:51849228C>T uc002pwh.2 - ETFB_uc002pwg.2_Intron NM_001985 NP_001976 VN1R4 317703 broad.mit.edu 37 19 53770966 53770966 + 5'Flank SNP T A A 2012-1356:2012-351-T g.chr19:53770966T>A uc010ydu.1 - NM_173857 NP_776256 RMND5A 64795 broad.mit.edu 37 2 87016340 87016340 + Intron SNP G A A 2012-1356:2012-351-T g.chr2:87016340G>A uc002srs.3 + CD8A_uc002srv.2_Intron|CD8A_uc010ytn.1_Intron|CD8A_uc002srt.2_Intron|CD8A_uc002sru.2_Intron RMND5A 64795 broad.mit.edu 37 2 87623577 87623577 + Intron SNP C T T 2012-1356:2012-351-T g.chr2:87623577C>T uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87642577 87642577 + Intron SNP G A A 2012-1356:2012-351-T g.chr2:87642577G>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87642929 87642929 + Intron SNP C G G 2012-1356:2012-351-T g.chr2:87642929C>G uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87644457 87644457 + Intron SNP C T T 2012-1356:2012-351-T g.chr2:87644457C>T uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87644462 87644462 + Intron SNP T G G 2012-1356:2012-351-T g.chr2:87644462T>G uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87651707 87651707 + Intron SNP A G G 2012-1356:2012-351-T g.chr2:87651707A>G uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87651727 87651727 + Intron SNP G A A 2012-1356:2012-351-T g.chr2:87651727G>A uc002srs.3 + TTN 7273 broad.mit.edu 37 2 179632639 179632639 + Missense_Mutation SNP C A A 2012-1356:2012-351-T g.chr2:179632639C>A uc010zfg.1 - 40 9542 c.9318G>T c.(9316-9318)CAG>CAT p.Q3106H TTN_uc010zfh.1_Missense_Mutation_p.Q3060H|TTN_uc010zfi.1_Missense_Mutation_p.Q3060H|TTN_uc010zfj.1_Missense_Mutation_p.Q3060H|TTN_uc002unb.2_Missense_Mutation_p.Q3106H NM_133378 NP_596869 AGAP1 116987 broad.mit.edu 37 2 236413015 236413015 + Intron SNP C T T 2012-1356:2012-351-T g.chr2:236413015C>T uc002vvs.2 + AGAP1_uc002vvt.2_Intron NM_001037131 NP_001032208 GPR35 2859 broad.mit.edu 37 2 241565321 241565321 + Intron SNP G T T 2012-1356:2012-351-T g.chr2:241565321G>T uc010fzh.1 + GPR35_uc010fzi.1_Intron NM_005301 NP_005292 KIF1A 547 broad.mit.edu 37 2 241720703 241720703 + Intron SNP T C C 2012-1356:2012-351-T g.chr2:241720703T>C uc002vzy.2 - KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron NM_004321 NP_004312 PLCB1 23236 broad.mit.edu 37 20 8770180 8770180 + Missense_Mutation SNP G T T 2012-1356:2012-351-T g.chr20:8770180G>T uc002wnb.2 + 30 3297 c.3294G>T c.(3292-3294)ATG>ATT p.M1098I PLCB1_uc002wna.2_Missense_Mutation_p.M1098I NM_015192 NP_056007 MLH1 4292 broad.mit.edu 37 3 37061957 37061957 + Intron SNP C G G 2012-1356:2012-351-T g.chr3:37061957C>G uc003cgl.2 + MLH1_uc011aye.1_Intron|MLH1_uc011ayb.1_Intron|MLH1_uc010hge.2_Intron|MLH1_uc003cgn.3_Intron|MLH1_uc011ayc.1_Intron|MLH1_uc011ayd.1_Intron|MLH1_uc003cgo.2_Intron|MLH1_uc010hgg.1_Intron|MLH1_uc010hgh.1_Intron|MLH1_uc010hgi.1_Intron|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.2_Intron|MLH1_uc010hgl.1_Intron NM_000249 NP_000240 FAM53A 152877 broad.mit.edu 37 4 1672738 1672738 + Intron SNP A C C 2012-1356:2012-351-T g.chr4:1672738A>C uc011bve.1 - FAM53A_uc010ibw.2_Intron NM_001013622 NP_001013644 DSPP 1834 broad.mit.edu 37 4 88537475 88537475 + Missense_Mutation SNP G A A 2012-1356:2012-351-T g.chr4:88537475G>A uc003hqu.2 + 5 3781 c.3661G>A c.(3661-3663)GAC>AAC p.D1221N NM_014208 NP_055023 PIK3R1 5295 broad.mit.edu 37 5 67522314 67522314 + 5'UTR SNP G A A 2012-1356:2012-351-T g.chr5:67522314G>A uc003jva.2 + 2 PIK3R1_uc003jvb.2_5'Flank NM_181523 NP_852664 SCML4 256380 broad.mit.edu 37 6 108103841 108103841 + Intron SNP C G G rs34206879 by1000genomes 2012-1356:2012-351-T g.chr6:108103841C>G uc010kdf.2 - SCML4_uc003prz.3_Intron|SCML4_uc011eam.1_Intron NM_198081 NP_932347 SYNE1 23345 broad.mit.edu 37 6 152539487 152539487 + Missense_Mutation SNP C T T 2012-1356:2012-351-T g.chr6:152539487C>T uc010kiw.2 - 121 22698 c.22096G>A c.(22096-22098)GCC>ACC p.A7366T SYNE1_uc010kiv.2_Missense_Mutation_p.A1890T|SYNE1_uc003qos.3_Missense_Mutation_p.A1890T|SYNE1_uc003qot.3_Missense_Mutation_p.A7295T|SYNE1_uc003qou.3_Missense_Mutation_p.A7366T|SYNE1_uc003qor.3_Missense_Mutation_p.A266T NM_182961 NP_892006 SMOC2 64094 broad.mit.edu 37 6 169016298 169016298 + Intron SNP C T T 2012-1356:2012-351-T g.chr6:169016298C>T uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 SMOC2 64094 broad.mit.edu 37 6 169016327 169016327 + Intron SNP C T T 2012-1356:2012-351-T g.chr6:169016327C>T uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 MAD1L1 8379 broad.mit.edu 37 7 2099942 2099942 + Intron SNP C T T 2012-1356:2012-351-T g.chr7:2099942C>T uc003slh.1 - MAD1L1_uc003sle.1_Intron|MAD1L1_uc003slf.1_Intron|MAD1L1_uc003slg.1_Intron|MAD1L1_uc010ksh.1_Intron|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Intron|MAD1L1_uc010ksj.2_Intron NM_001013836 NP_001013858 THSD7A 221981 broad.mit.edu 37 7 11675931 11675931 + Missense_Mutation SNP C A A 2012-1356:2012-351-T g.chr7:11675931C>A uc003ssf.3 - 2 1100 c.848G>T c.(847-849)CGG>CTG p.R283L NM_015204 NP_056019 PTPRN2 5799 broad.mit.edu 37 7 157944173 157944173 + Intron SNP T C C rs62480241 2012-1356:2012-351-T g.chr7:157944173T>C uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158316438 158316438 + Intron SNP G A A rs111510963 2012-1356:2012-351-T g.chr7:158316438G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 CSMD3 114788 broad.mit.edu 37 8 113277887 113277887 + Intron SNP C T T 2012-1356:2012-351-T g.chr8:113277887C>T uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 VAV2 7410 broad.mit.edu 37 9 136692549 136692549 + Intron SNP A G G 2012-1356:2012-351-T g.chr9:136692549A>G uc004ces.2 - VAV2_uc004cer.2_Intron NM_001134398 NP_001127870 EHMT1 79813 broad.mit.edu 37 9 140615947 140615947 + Intron SNP T C C 2012-1356:2012-351-T g.chr9:140615947T>C uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 MTOR 2475 broad.mit.edu 37 1 11292531 11292531 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr1:11292531C>A uc001asd.2 - 16 2597 c.2476G>T c.(2476-2478)GAC>TAC p.D826Y NM_004958 NP_004949 EPHA2 1969 broad.mit.edu 37 1 16451603 16451603 + 3'UTR SNP G A A 2012-693:2012-1306-T g.chr1:16451603G>A uc001aya.1 - 17 NM_004431 NP_004422 MACF1 23499 broad.mit.edu 37 1 39752985 39752985 + Silent SNP C A A 2012-693:2012-1306-T g.chr1:39752985C>A uc010ois.1 + 16 1756 c.1551C>A c.(1549-1551)GTC>GTA p.V517V MACF1_uc001cda.1_Silent_p.V425V NM_012090 NP_036222 JAK1 3716 broad.mit.edu 37 1 65304175 65304175 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr1:65304175C>A uc001dbu.1 - 21 3189 c.2940G>T c.(2938-2940)CAG>CAT p.Q980H JAK1_uc009wam.1_Missense_Mutation_p.Q968H|JAK1_uc009wal.1_Missense_Mutation_p.Q157H NM_002227 NP_002218 JAK1 3716 broad.mit.edu 37 1 65313272 65313272 + Silent SNP C T T 2012-693:2012-1306-T g.chr1:65313272C>T uc001dbu.1 - 13 2091 c.1842G>A c.(1840-1842)GAG>GAA p.E614E JAK1_uc009wam.1_Silent_p.E602E|JAK1_uc009wal.1_5'Flank NM_002227 NP_002218 COL11A1 1301 broad.mit.edu 37 1 103496681 103496681 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr1:103496681C>A uc001dul.2 - 5 1089 c.771G>T c.(769-771)CAG>CAT p.Q257H COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.Q257H|COL11A1_uc001dun.2_Missense_Mutation_p.Q257H|COL11A1_uc009weh.2_Missense_Mutation_p.Q257H NM_001854 NP_001845 FLG2 388698 broad.mit.edu 37 1 152327506 152327506 + Missense_Mutation SNP T A A 2012-693:2012-1306-T g.chr1:152327506T>A uc001ezw.3 - 3 2829 c.2756A>T c.(2755-2757)CAG>CTG p.Q919L uc001ezv.2_Intron NM_001014342 NP_001014364 TPM3 7170 broad.mit.edu 37 1 154165082 154165082 + 5'Flank SNP C A A 2012-693:2012-1306-T g.chr1:154165082C>A uc001fec.1 - NM_152263 NP_689476 FAM5B 57795 broad.mit.edu 37 1 177140316 177140316 + 5'Flank SNP T G G 2012-693:2012-1306-T g.chr1:177140316T>G uc001glf.2 + NM_021165 NP_066988 PIK3C2B 5287 broad.mit.edu 37 1 204396902 204396902 + Intron SNP C A A 2012-693:2012-1306-T g.chr1:204396902C>A uc001haw.2 - PIK3C2B_uc010pqv.1_Intron NM_002646 NP_002637 SMYD3 64754 broad.mit.edu 37 1 246139275 246139275 + Intron SNP C T T 2012-693:2012-1306-T g.chr1:246139275C>T uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 SMYD3 64754 broad.mit.edu 37 1 246139312 246139312 + Intron SNP C T T 2012-693:2012-1306-T g.chr1:246139312C>T uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 NRAP 4892 broad.mit.edu 37 10 115381634 115381634 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr10:115381634C>A uc001laj.2 - 24 2927 c.2763G>T c.(2761-2763)CAG>CAT p.Q921H NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.Q886H|NRAP_uc001lal.3_Missense_Mutation_p.Q921H NM_198060 NP_932326 OR8H3 390152 broad.mit.edu 37 11 55889998 55889998 + Silent SNP C A A 2012-693:2012-1306-T g.chr11:55889998C>A uc001nii.1 + 1 150 c.150C>A c.(148-150)ATC>ATA p.I50I NM_001005201 NP_001005201 OR8K1 390157 broad.mit.edu 37 11 56113814 56113814 + Nonsense_Mutation SNP C A A 2012-693:2012-1306-T g.chr11:56113814C>A uc010rjg.1 + 1 300 c.300C>A c.(298-300)TAC>TAA p.Y100* NM_001002907 NP_001002907 MAML2 84441 broad.mit.edu 37 11 96076692 96076692 + 5'Flank SNP C A A 2012-693:2012-1306-T g.chr11:96076692C>A uc001pfw.1 - NM_032427 NP_115803 UBE4A 9354 broad.mit.edu 37 11 118235863 118235863 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr11:118235863C>A uc001psw.2 + 2 197 c.68C>A c.(67-69)GCT>GAT p.A23D UBE4A_uc001psv.2_Missense_Mutation_p.A23D NM_004788 NP_004779 SLC2A13 114134 broad.mit.edu 37 12 40154000 40154000 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr12:40154000C>A uc010skm.1 - 10 1826 c.1775G>T c.(1774-1776)GGC>GTC p.G592V C12orf40_uc009zjv.1_Intron NM_052885 NP_443117 NELL2 4753 broad.mit.edu 37 12 45004687 45004687 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr12:45004687C>A uc001rog.2 - 14 2106 c.1511G>T c.(1510-1512)GGA>GTA p.G504V NELL2_uc001rof.3_Missense_Mutation_p.G503V|NELL2_uc001roh.2_Missense_Mutation_p.G504V|NELL2_uc009zkd.2_Missense_Mutation_p.G503V|NELL2_uc010skz.1_Missense_Mutation_p.G554V|NELL2_uc010sla.1_Missense_Mutation_p.G527V|NELL2_uc001roi.1_Missense_Mutation_p.G504V|NELL2_uc010slb.1_Missense_Mutation_p.G503V NM_001145108 NP_001138580 ERBB3 2065 broad.mit.edu 37 12 56473425 56473425 + 5'Flank SNP T G G 2012-693:2012-1306-T g.chr12:56473425T>G uc001sjh.2 + ERBB3_uc009zoj.2_5'Flank|ERBB3_uc010sqb.1_5'Flank|ERBB3_uc001sjg.2_5'Flank NM_001982 NP_001973 MDM2 4193 broad.mit.edu 37 12 69210757 69210757 + Intron SNP C A A 2012-693:2012-1306-T g.chr12:69210757C>A uc001sui.2 + MDM2_uc009zri.2_Intron|MDM2_uc009zqx.2_Intron|MDM2_uc009zqw.2_Intron|MDM2_uc001suk.2_Intron|MDM2_uc009zqy.1_Intron|MDM2_uc001sun.3_Intron|MDM2_uc009zqz.2_Intron|MDM2_uc009zra.2_Intron|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_Intron|MDM2_uc009zrc.2_Intron|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Intron|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Intron NM_002392 NP_002383 E2F7 144455 broad.mit.edu 37 12 77421703 77421703 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr12:77421703C>A uc001sym.3 - 11 2336 c.2100G>T c.(2098-2100)GAG>GAT p.E700D E2F7_uc009zse.2_Missense_Mutation_p.E187D NM_203394 NP_976328 E2F7 144455 broad.mit.edu 37 12 77423878 77423878 + Silent SNP T G G 2012-693:2012-1306-T g.chr12:77423878T>G uc001sym.3 - 10 1853 c.1617A>C c.(1615-1617)GCA>GCC p.A539A E2F7_uc009zse.2_Silent_p.A26A NM_203394 NP_976328 NAV3 89795 broad.mit.edu 37 12 78598796 78598796 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr12:78598796C>A uc001syp.2 + 39 7089 c.6916C>A c.(6916-6918)CAG>AAG p.Q2306K NAV3_uc001syo.2_Missense_Mutation_p.Q2284K|NAV3_uc010sub.1_Missense_Mutation_p.Q1763K|NAV3_uc009zsf.2_Missense_Mutation_p.Q1115K NM_014903 NP_055718 TDRD3 81550 broad.mit.edu 37 13 60971006 60971006 + 5'UTR SNP C A A 2012-693:2012-1306-T g.chr13:60971006C>A uc001via.2 + 1 TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_5'UTR|TDRD3_uc010aeg.2_5'Flank NM_030794 NP_110421 PAX9 5083 broad.mit.edu 37 14 37126326 37126326 + 5'Flank SNP C A A rs78933923 by1000genomes 2012-693:2012-1306-T g.chr14:37126326C>A uc001wty.3 + NM_006194 NP_006185 LRFN5 145581 broad.mit.edu 37 14 42360709 42360709 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr14:42360709C>A uc001wvm.2 + 4 2840 c.1642C>A c.(1642-1644)CTG>ATG p.L548M LRFN5_uc010ana.2_Intron NM_152447 NP_689660 NIN 51199 broad.mit.edu 37 14 51223776 51223776 + Silent SNP C A A 2012-693:2012-1306-T g.chr14:51223776C>A uc001wym.2 - 18 4163 c.3972G>T c.(3970-3972)CTG>CTT p.L1324L NIN_uc001wyi.2_Silent_p.L1324L|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Silent_p.L1330L|NIN_uc001wyo.2_Silent_p.L1324L NM_182946 NP_891991 SPTLC2 9517 broad.mit.edu 37 14 78036776 78036776 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr14:78036776C>A uc001xub.2 - 5 895 c.707G>T c.(706-708)GGC>GTC p.G236V NM_004863 NP_004854 SPTLC2 9517 broad.mit.edu 37 14 78063560 78063560 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr14:78063560C>A uc001xub.2 - 2 484 c.296G>T c.(295-297)TGT>TTT p.C99F NM_004863 NP_004854 UBE3A 7337 broad.mit.edu 37 15 25616084 25616084 + Nonsense_Mutation SNP C A A 2012-693:2012-1306-T g.chr15:25616084C>A uc001zaq.2 - 4 1246 c.1246G>T c.(1246-1248)GAA>TAA p.E416* uc001zae.2_Intron|UBE3A_uc001zar.2_Nonsense_Mutation_p.E393*|UBE3A_uc001zas.2_Nonsense_Mutation_p.E413*|UBE3A_uc001zat.2_Nonsense_Mutation_p.E393* NM_000462 NP_000453 LMF1 64788 broad.mit.edu 37 16 909309 909309 + Intron SNP C T T 2012-693:2012-1306-T g.chr16:909309C>T uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 RPL3L 6123 broad.mit.edu 37 16 1999991 1999991 + Intron SNP A G G rs112299600 2012-693:2012-1306-T g.chr16:1999991A>G uc002cnh.2 - NM_005061 NP_005052 CREBBP 1387 broad.mit.edu 37 16 3786004 3786004 + Intron SNP C A A 2012-693:2012-1306-T g.chr16:3786004C>A uc002cvv.2 - CREBBP_uc002cvw.2_Intron NM_004380 NP_004371 CREBBP 1387 broad.mit.edu 37 16 3843503 3843503 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr16:3843503C>A uc002cvv.2 - 4 1304 c.1100G>T c.(1099-1101)TGT>TTT p.C367F CREBBP_uc002cvw.2_Missense_Mutation_p.C367F NM_004380 NP_004371 MYH11 4629 broad.mit.edu 37 16 15818212 15818212 + Nonsense_Mutation SNP C A A 2012-693:2012-1306-T g.chr16:15818212C>A uc002ddy.2 - 31 4278 c.4171G>T c.(4171-4173)GAA>TAA p.E1391* MYH11_uc002ddv.2_Nonsense_Mutation_p.E1398*|MYH11_uc002ddw.2_Nonsense_Mutation_p.E1391*|MYH11_uc002ddx.2_Nonsense_Mutation_p.E1398*|MYH11_uc010bvg.2_Nonsense_Mutation_p.E1223*|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Nonsense_Mutation_p.E97*|NDE1_uc002ddz.1_RNA NM_002474 NP_002465 PHLPP2 23035 broad.mit.edu 37 16 71748476 71748476 + Nonsense_Mutation SNP C A A 2012-693:2012-1306-T g.chr16:71748476C>A uc002fax.2 - 1 229 c.223G>T c.(223-225)GAA>TAA p.E75* PHLPP2_uc010cgf.2_Nonsense_Mutation_p.E75*|PHLPP2_uc002fay.1_Nonsense_Mutation_p.E75* NM_015020 NP_055835 PRDM7 11105 broad.mit.edu 37 16 90141862 90141862 + Missense_Mutation SNP G T T 2012-693:2012-1306-T g.chr16:90141862G>T uc010cje.2 - 2 110 c.90C>A c.(88-90)GAC>GAA p.D30E PRDM7_uc010cjf.2_Intron|PRDM7_uc010cjh.1_RNA NM_001098173 NP_001091643 RPH3AL 9501 broad.mit.edu 37 17 157153 157153 + Intron SNP T C C 2012-693:2012-1306-T g.chr17:157153T>C uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 ABR 29 broad.mit.edu 37 17 959263 959263 + Intron SNP C A A 2012-693:2012-1306-T g.chr17:959263C>A uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010vqg.1_Intron|ABR_uc002fsg.2_Intron|ABR_uc002fsh.1_Intron NM_021962 NP_068781 MYH13 8735 broad.mit.edu 37 17 10231178 10231178 + Intron SNP C A A 2012-693:2012-1306-T g.chr17:10231178C>A uc002gmk.1 - NM_003802 NP_003793 MYH4 4622 broad.mit.edu 37 17 10356553 10356553 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr17:10356553C>A uc002gmn.2 - 24 3138 c.3027G>T c.(3025-3027)CAG>CAT p.Q1009H uc002gml.1_Intron NM_017533 NP_060003 MYH4 4622 broad.mit.edu 37 17 10359090 10359090 + Intron SNP C A A 2012-693:2012-1306-T g.chr17:10359090C>A uc002gmn.2 - uc002gml.1_Intron NM_017533 NP_060003 NF1 4763 broad.mit.edu 37 17 29587442 29587442 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr17:29587442C>A uc002hgg.2 + 34 4819 c.4486C>A c.(4486-4488)CTT>ATT p.L1496I NF1_uc002hgh.2_Missense_Mutation_p.L1475I|NF1_uc002hgi.1_Missense_Mutation_p.L508I NM_001042492 NP_001035957 NF1 4763 broad.mit.edu 37 17 29654769 29654769 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr17:29654769C>A uc002hgg.2 + 38 5854 c.5521C>A c.(5521-5523)CAA>AAA p.Q1841K NF1_uc002hgh.2_Missense_Mutation_p.Q1820K|NF1_uc002hgi.1_Missense_Mutation_p.Q853K|NF1_uc010cso.2_Missense_Mutation_p.Q29K NM_001042492 NP_001035957 NF1 4763 broad.mit.edu 37 17 29657409 29657409 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr17:29657409C>A uc002hgg.2 + 39 6038 c.5705C>A c.(5704-5706)GCC>GAC p.A1902D NF1_uc002hgh.2_Missense_Mutation_p.A1881D|NF1_uc002hgi.1_Missense_Mutation_p.A914D|NF1_uc010cso.2_Missense_Mutation_p.A90D NM_001042492 NP_001035957 NF1 4763 broad.mit.edu 37 17 29663848 29663848 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr17:29663848C>A uc002hgg.2 + 42 6676 c.6343C>A c.(6343-6345)CCG>ACG p.P2115T NF1_uc002hgh.2_Missense_Mutation_p.P2094T|NF1_uc010cso.2_Missense_Mutation_p.P303T|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank NM_001042492 NP_001035957 TUBD1 51174 broad.mit.edu 37 17 57970060 57970060 + 5'UTR SNP C A A 2012-693:2012-1306-T g.chr17:57970060C>A uc002ixw.1 - 1 TUBD1_uc010ddf.1_5'Flank|TUBD1_uc010ddg.1_5'UTR|TUBD1_uc010ddh.1_5'UTR|TUBD1_uc010wok.1_5'UTR|TUBD1_uc002ixx.1_5'UTR|TUBD1_uc010wol.1_5'UTR|TUBD1_uc010ddi.1_5'UTR|RPS6KB1_uc010ddj.1_5'Flank|RPS6KB1_uc002ixy.2_5'Flank|RPS6KB1_uc010wom.1_5'Flank|RPS6KB1_uc010won.1_5'Flank NM_016261 NP_057345 ZNF521 25925 broad.mit.edu 37 18 22804942 22804942 + Silent SNP C A A 2012-693:2012-1306-T g.chr18:22804942C>A uc002kvk.2 - 4 3187 c.2940G>T c.(2938-2940)ACG>ACT p.T980T ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.T980T|ZNF521_uc002kvl.2_Silent_p.T760T NM_015461 NP_056276 PIK3C3 5289 broad.mit.edu 37 18 39609338 39609338 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr18:39609338C>A uc002lap.2 + 15 1698 c.1640C>A c.(1639-1641)ACA>AAA p.T547K PIK3C3_uc010xcl.1_Missense_Mutation_p.T484K|PIK3C3_uc002laq.2_Missense_Mutation_p.T32K NM_002647 NP_002638 KIAA1468 57614 broad.mit.edu 37 18 59931241 59931241 + Silent SNP T G G 2012-693:2012-1306-T g.chr18:59931241T>G uc002lil.2 + 17 2585 c.2370T>G c.(2368-2370)CCT>CCG p.P790P KIAA1468_uc002lik.1_Silent_p.P790P|KIAA1468_uc010xel.1_Silent_p.P790P|KIAA1468_uc002lim.2_Silent_p.P434P NM_020854 NP_065905 PHLPP1 23239 broad.mit.edu 37 18 60499708 60499708 + Intron SNP C T T 2012-693:2012-1306-T g.chr18:60499708C>T uc002lis.2 + NM_194449 NP_919431 DSEL 92126 broad.mit.edu 37 18 65179628 65179628 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr18:65179628C>A uc002lke.1 - 2 3472 c.2248G>T c.(2248-2250)GCT>TCT p.A750S NM_032160 NP_115536 ZNF790 388536 broad.mit.edu 37 19 37310818 37310818 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr19:37310818C>A uc002oew.2 - 5 547 c.428G>T c.(427-429)CGC>CTC p.R143L uc002oev.1_Intron NM_206894 NP_996777 VN1R4 317703 broad.mit.edu 37 19 53770382 53770382 + Silent SNP C A A 2012-693:2012-1306-T g.chr19:53770382C>A uc010ydu.1 - 1 537 c.537G>T c.(535-537)CTG>CTT p.L179L NM_173857 NP_776256 NLRP11 204801 broad.mit.edu 37 19 56347708 56347708 + 5'UTR SNP C A A 2012-693:2012-1306-T g.chr19:56347708C>A uc010ygf.1 - 1 NLRP4_uc002qmd.3_5'Flank|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 PEG3 5178 broad.mit.edu 37 19 57325744 57325744 + Nonsense_Mutation SNP C A A 2012-693:2012-1306-T g.chr19:57325744C>A uc002qnu.2 - 7 4417 c.4066G>T c.(4066-4068)GAA>TAA p.E1356* ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.E1327*|PEG3_uc002qnv.2_Nonsense_Mutation_p.E1356*|PEG3_uc002qnw.2_Nonsense_Mutation_p.E1232*|PEG3_uc002qnx.2_Nonsense_Mutation_p.E1230*|PEG3_uc010etr.2_Nonsense_Mutation_p.E1356* NM_001146186 NP_001139658 APOB 338 broad.mit.edu 37 2 21229290 21229290 + Nonsense_Mutation SNP C A A 2012-693:2012-1306-T g.chr2:21229290C>A uc002red.2 - 26 10578 c.10450G>T c.(10450-10452)GAA>TAA p.E3484* NM_000384 NP_000375 GALNT14 79623 broad.mit.edu 37 2 31361947 31361947 + 5'Flank SNP C A A 2012-693:2012-1306-T g.chr2:31361947C>A uc002rnr.2 - GALNT14_uc002rns.2_5'Flank|GALNT14_uc010ymr.1_5'Flank|GALNT14_uc010ezo.1_5'Flank|GALNT14_uc010ezp.1_Intron NM_024572 NP_078848 MSH6 2956 broad.mit.edu 37 2 48030803 48030803 + Silent SNP C A A 2012-693:2012-1306-T g.chr2:48030803C>A uc002rwd.3 + 5 3569 c.3417C>A c.(3415-3417)GGC>GGA p.G1139G MSH6_uc010fbj.2_Silent_p.G837G|MSH6_uc010yoi.1_Silent_p.G1009G|MSH6_uc010yoj.1_Silent_p.G837G NM_000179 NP_000170 AFF3 3899 broad.mit.edu 37 2 100632935 100632935 + Intron SNP G T T 2012-693:2012-1306-T g.chr2:100632935G>T uc002tag.2 - AFF3_uc002taf.2_Intron|AFF3_uc010fiq.1_Intron|AFF3_uc010yvr.1_Intron|AFF3_uc002tah.1_Intron|AFF3_uc010fir.1_Intron NM_002285 NP_002276 ZEB2 9839 broad.mit.edu 37 2 145156440 145156440 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr2:145156440C>A uc002tvu.2 - 8 2794 c.2314G>T c.(2314-2316)GTT>TTT p.V772F ZEB2_uc002tvv.2_Missense_Mutation_p.V766F|ZEB2_uc010zbm.1_Missense_Mutation_p.V743F|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.V801F NM_014795 NP_055610 TTN 7273 broad.mit.edu 37 2 179419853 179419853 + Nonsense_Mutation SNP C A A 2012-693:2012-1306-T g.chr2:179419853C>A uc010zfg.1 - 280 80853 c.80629G>T c.(80629-80631)GAA>TAA p.E26877* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E20572*|TTN_uc010zfi.1_Nonsense_Mutation_p.E20505*|TTN_uc010zfj.1_Nonsense_Mutation_p.E20380* NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179440946 179440946 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr2:179440946C>A uc010zfg.1 - 275 62433 c.62209G>T c.(62209-62211)GAT>TAT p.D20737Y uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D14432Y|TTN_uc010zfi.1_Missense_Mutation_p.D14365Y|TTN_uc010zfj.1_Missense_Mutation_p.D14240Y|uc002umv.1_5'Flank NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179451391 179451391 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr2:179451391C>A uc010zfg.1 - 257 56757 c.56533G>T c.(56533-56535)GAT>TAT p.D18845Y uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D12540Y|TTN_uc010zfi.1_Missense_Mutation_p.D12473Y|TTN_uc010zfj.1_Missense_Mutation_p.D12348Y NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179455554 179455554 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr2:179455554C>A uc010zfg.1 - 253 53418 c.53194G>T c.(53194-53196)GGC>TGC p.G17732C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G11427C|TTN_uc010zfi.1_Missense_Mutation_p.G11360C|TTN_uc010zfj.1_Missense_Mutation_p.G11235C NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179458173 179458173 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr2:179458173C>A uc010zfg.1 - 248 51282 c.51058G>T c.(51058-51060)GTT>TTT p.V17020F uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V10715F|TTN_uc010zfi.1_Missense_Mutation_p.V10648F|TTN_uc010zfj.1_Missense_Mutation_p.V10523F NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179476533 179476533 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr2:179476533C>A uc010zfg.1 - 217 43023 c.42799G>T c.(42799-42801)GGC>TGC p.G14267C uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G7962C|TTN_uc010zfi.1_Missense_Mutation_p.G7895C|TTN_uc010zfj.1_Missense_Mutation_p.G7770C NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179560883 179560883 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr2:179560883C>A uc010zfg.1 - 111 27408 c.27184G>T c.(27184-27186)GTC>TTC p.V9062F TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V5723F|TTN_uc010fre.1_Missense_Mutation_p.V173F NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179612551 179612551 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr2:179612551C>A uc002unb.2 - 46 14800 c.14576G>T c.(14575-14577)TGT>TTT p.C4859F TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 TTN 7273 broad.mit.edu 37 2 179615314 179615314 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr2:179615314C>A uc002unb.2 - 46 12037 c.11813G>T c.(11812-11814)CGC>CTC p.R3938L TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 MAP2 4133 broad.mit.edu 37 2 210557739 210557739 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr2:210557739C>A uc002vde.1 + 7 1093 c.845C>A c.(844-846)GCC>GAC p.A282D MAP2_uc002vdc.1_Missense_Mutation_p.A282D|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.A278D NM_002374 NP_002365 EPHA4 2043 broad.mit.edu 37 2 222347021 222347021 + Intron SNP C A A 2012-693:2012-1306-T g.chr2:222347021C>A uc002vmq.2 - EPHA4_uc002vmr.2_Intron|EPHA4_uc010zlm.1_Intron|EPHA4_uc010zln.1_Intron NM_004438 NP_004429 COL6A3 1293 broad.mit.edu 37 2 238287761 238287761 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr2:238287761C>A uc002vwl.2 - 6 2300 c.2015G>T c.(2014-2016)GGA>GTA p.G672V COL6A3_uc002vwo.2_Missense_Mutation_p.G466V|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Missense_Mutation_p.G466V|COL6A3_uc002vwr.2_Missense_Mutation_p.G265V|COL6A3_uc010znk.1_Intron NM_004369 NP_004360 THAP4 51078 broad.mit.edu 37 2 242559636 242559636 + Intron SNP T G G 2012-693:2012-1306-T g.chr2:242559636T>G uc002wbt.2 - THAP4_uc002wbs.2_5'Flank NM_015963 NP_057047 ARFGEF2 10564 broad.mit.edu 37 20 47611046 47611046 + Missense_Mutation SNP C A A rs138319848 2012-693:2012-1306-T g.chr20:47611046C>A uc002xtx.3 + 22 3184 c.3032C>A c.(3031-3033)ACG>AAG p.T1011K ARFGEF2_uc010zyf.1_Missense_Mutation_p.T304K NM_006420 NP_006411 MYT1 4661 broad.mit.edu 37 20 62866369 62866369 + Intron SNP C G G 2012-693:2012-1306-T g.chr20:62866369C>G uc002yii.2 + MYT1_uc002yij.2_Intron NM_004535 NP_004526 TPTE 7179 broad.mit.edu 37 21 10996134 10996134 + RNA SNP C A A 2012-693:2012-1306-T g.chr21:10996134C>A uc002yis.1 - 12 c.2052G>T PRDM15 63977 broad.mit.edu 37 21 43226217 43226217 + Intron SNP C T T 2012-693:2012-1306-T g.chr21:43226217C>T uc002yzq.1 - PRDM15_uc002yzo.2_Intron|PRDM15_uc002yzp.2_Intron|PRDM15_uc002yzr.1_Intron NM_022115 NP_071398 MPPED1 758 broad.mit.edu 37 22 43892128 43892128 + Intron SNP A T T 2012-693:2012-1306-T g.chr22:43892128A>T uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 CNTN6 27255 broad.mit.edu 37 3 1337363 1337363 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr3:1337363C>A uc003boz.2 + 6 800 c.533C>A c.(532-534)ACG>AAG p.T178K CNTN6_uc010hbo.2_Missense_Mutation_p.T173K|CNTN6_uc011asj.1_Missense_Mutation_p.T106K|CNTN6_uc003bpa.2_Missense_Mutation_p.T178K NM_014461 NP_055276 RAF1 5894 broad.mit.edu 37 3 12626582 12626582 + Intron SNP T C C 2012-693:2012-1306-T g.chr3:12626582T>C uc003bxf.3 - RAF1_uc011aut.1_Intron|RAF1_uc011auu.1_Intron NM_002880 NP_002871 TGFBR2 7048 broad.mit.edu 37 3 30656168 30656168 + Intron SNP G A A rs6791557 by1000genomes 2012-693:2012-1306-T g.chr3:30656168G>A uc003ceo.2 + TGFBR2_uc003cen.2_Intron NM_003242 NP_003233 CELSR3 1951 broad.mit.edu 37 3 48696794 48696794 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr3:48696794C>A uc003cul.2 - 1 3555 c.3274G>T c.(3274-3276)GTG>TTG p.V1092L CELSR3_uc003cuf.1_Missense_Mutation_p.V1162L NM_001407 NP_001398 PBRM1 55193 broad.mit.edu 37 3 52643860 52643860 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr3:52643860C>A uc003des.2 - 16 2048 c.2036G>T c.(2035-2037)CGC>CTC p.R679L PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.R679L|PBRM1_uc003der.2_Missense_Mutation_p.R647L|PBRM1_uc003det.2_Missense_Mutation_p.R694L|PBRM1_uc003deu.2_Missense_Mutation_p.R694L|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.R679L|PBRM1_uc010hmk.1_Missense_Mutation_p.R679L|PBRM1_uc003dey.2_Missense_Mutation_p.R679L|PBRM1_uc003dez.1_Missense_Mutation_p.R679L|PBRM1_uc003dfb.1_Missense_Mutation_p.R592L|PBRM1_uc003dfa.1_Missense_Mutation_p.R25L|PBRM1_uc003dfc.2_Missense_Mutation_p.R46L NM_181042 NP_060635 FOXP1 27086 broad.mit.edu 37 3 71090445 71090445 + Intron SNP C A A 2012-693:2012-1306-T g.chr3:71090445C>A uc003dol.2 - FOXP1_uc003dom.2_Intron|FOXP1_uc003don.2_Intron|FOXP1_uc003doo.2_Intron|FOXP1_uc003dop.2_Intron|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Intron|FOXP1_uc003doj.2_Intron|FOXP1_uc003dok.2_Intron|FOXP1_uc003dor.1_Intron NM_032682 NP_116071 POLQ 10721 broad.mit.edu 37 3 121195503 121195503 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr3:121195503C>A uc003eee.3 - 20 6418 c.6289G>T c.(6289-6291)GCA>TCA p.A2097S POLQ_uc003eed.2_Missense_Mutation_p.A1269S NM_199420 NP_955452 POLQ 10721 broad.mit.edu 37 3 121206722 121206722 + Nonsense_Mutation SNP C A A 2012-693:2012-1306-T g.chr3:121206722C>A uc003eee.3 - 16 5185 c.5056G>T c.(5056-5058)GAG>TAG p.E1686* POLQ_uc003eed.2_Nonsense_Mutation_p.E858* NM_199420 NP_955452 CHCHD6 84303 broad.mit.edu 37 3 126581148 126581148 + Intron SNP T C C 2012-693:2012-1306-T g.chr3:126581148T>C uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 CHCHD6 84303 broad.mit.edu 37 3 126581238 126581238 + Intron SNP T C C 2012-693:2012-1306-T g.chr3:126581238T>C uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 CHCHD6 84303 broad.mit.edu 37 3 126582025 126582025 + Intron SNP C T T 2012-693:2012-1306-T g.chr3:126582025C>T uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 PIK3CB 5291 broad.mit.edu 37 3 138474657 138474657 + Silent SNP C A A 2012-693:2012-1306-T g.chr3:138474657C>A uc011bmq.1 - 2 336 c.336G>T c.(334-336)GTG>GTT p.V112V NM_006219 NP_006210 KDR 3791 broad.mit.edu 37 4 55948167 55948167 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr4:55948167C>A uc003has.2 - 29 4106 c.3804G>T c.(3802-3804)GAG>GAT p.E1268D KDR_uc003hat.1_Missense_Mutation_p.E1268D NM_002253 NP_002244 KDR 3791 broad.mit.edu 37 4 55963886 55963886 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr4:55963886C>A uc003has.2 - 18 2859 c.2557G>T c.(2557-2559)GCC>TCC p.A853S KDR_uc003hat.1_Missense_Mutation_p.A853S NM_002253 NP_002244 FAT4 79633 broad.mit.edu 37 4 126411114 126411114 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr4:126411114C>A uc003ifj.3 + 17 13137 c.13137C>A c.(13135-13137)AGC>AGA p.S4379R FAT4_uc011cgp.1_Missense_Mutation_p.S2620R|FAT4_uc003ifi.1_Missense_Mutation_p.S1856R NM_024582 NP_078858 SORBS2 8470 broad.mit.edu 37 4 186702736 186702736 + Intron SNP G T T 2012-693:2012-1306-T g.chr4:186702736G>T uc003iyl.2 - SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Intron|SORBS2_uc011cky.1_Intron|SORBS2_uc003iyp.2_Intron NM_021069 NP_066547 AHRR 57491 broad.mit.edu 37 5 345527 345527 + Intron SNP C G G 2012-693:2012-1306-T g.chr5:345527C>G uc003jav.2 + AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Intron NM_020731 NP_065782 DNAH5 1767 broad.mit.edu 37 5 13735344 13735344 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr5:13735344C>A uc003jfd.2 - 68 11699 c.11657G>T c.(11656-11658)GGG>GTG p.G3886V DNAH5_uc003jfc.2_Missense_Mutation_p.G54V NM_001369 NP_001360 CDH12 1010 broad.mit.edu 37 5 22078699 22078699 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr5:22078699C>A uc010iuc.2 - 2 545 c.87G>T c.(85-87)CAG>CAT p.Q29H CDH12_uc011cno.1_Missense_Mutation_p.Q29H|CDH12_uc003jgk.2_Missense_Mutation_p.Q29H NM_004061 NP_004052 CDH10 1008 broad.mit.edu 37 5 24511472 24511472 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr5:24511472C>A uc003jgr.1 - 6 1298 c.966G>T c.(964-966)GAG>GAT p.E322D CDH10_uc011cnu.1_RNA NM_006727 NP_006718 CDH9 1007 broad.mit.edu 37 5 26902718 26902718 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr5:26902718C>A uc003jgs.1 - 7 1289 c.1120G>T c.(1120-1122)GTG>TTG p.V374L NM_016279 NP_057363 CDH9 1007 broad.mit.edu 37 5 26903754 26903754 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr5:26903754C>A uc003jgs.1 - 6 1160 c.991G>T c.(991-993)GTC>TTC p.V331F CDH9_uc010iug.2_Missense_Mutation_p.V331F NM_016279 NP_057363 CDH9 1007 broad.mit.edu 37 5 26906918 26906918 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr5:26906918C>A uc003jgs.1 - 4 722 c.553G>T c.(553-555)GAT>TAT p.D185Y CDH9_uc010iug.2_Missense_Mutation_p.D185Y NM_016279 NP_057363 ADAMTS12 81792 broad.mit.edu 37 5 33751608 33751608 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr5:33751608C>A uc003jia.1 - 3 698 c.535G>T c.(535-537)GTG>TTG p.V179L ADAMTS12_uc010iuq.1_Missense_Mutation_p.V179L|ADAMTS12_uc003jib.1_Missense_Mutation_p.V179L NM_030955 NP_112217 MAP3K1 4214 broad.mit.edu 37 5 56174801 56174801 + Intron SNP C A A 2012-693:2012-1306-T g.chr5:56174801C>A uc003jqw.3 + NM_005921 NP_005912 APC 324 broad.mit.edu 37 5 112177569 112177569 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr5:112177569C>A uc010jby.2 + 16 6658 c.6278C>A c.(6277-6279)TCC>TAC p.S2093Y APC_uc011cvt.1_Missense_Mutation_p.S2075Y|APC_uc003kpz.3_Missense_Mutation_p.S2093Y|APC_uc003kpy.3_Missense_Mutation_p.S2093Y|APC_uc010jbz.2_Missense_Mutation_p.S1810Y|APC_uc010jca.2_Missense_Mutation_p.S1393Y NM_001127511 NP_001120983 PCDHA8 56140 broad.mit.edu 37 5 140221306 140221306 + Silent SNP C A A 2012-693:2012-1306-T g.chr5:140221306C>A uc003lhs.2 + 1 400 c.400C>A c.(400-402)CGG>AGG p.R134R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.R134R NM_018911 NP_061734 PCDHB2 56133 broad.mit.edu 37 5 140475358 140475358 + Silent SNP C A A 2012-693:2012-1306-T g.chr5:140475358C>A uc003lil.2 + 1 1122 c.984C>A c.(982-984)GGC>GGA p.G328G PCDHB2_uc003lim.1_5'UTR NM_018936 NP_061759 CSF1R 1436 broad.mit.edu 37 5 149435731 149435731 + Intron SNP C A A 2012-693:2012-1306-T g.chr5:149435731C>A uc003lrl.2 - CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_Intron|CSF1R_uc003lrm.2_Intron NM_005211 NP_005202 FAT2 2196 broad.mit.edu 37 5 150946107 150946107 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr5:150946107C>A uc003lue.3 - 1 2399 c.2386G>T c.(2386-2388)GGC>TGC p.G796C GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.G796C NM_001447 NP_001438 GM2A 2760 broad.mit.edu 37 5 150992336 150992336 + Intron SNP G T T 2012-693:2012-1306-T g.chr5:150992336G>T uc011dcs.1 + NM_000405 ITK 3702 broad.mit.edu 37 5 156667130 156667130 + Missense_Mutation SNP C G G 2012-693:2012-1306-T g.chr5:156667130C>G uc003lwo.1 + 10 992 c.910C>G c.(910-912)CGA>GGA p.R304G NM_005546 NP_005537 HLA-G 3135 broad.mit.edu 37 6 29857730 29857730 + Intron SNP G C C rs112551412 2012-693:2012-1306-T g.chr6:29857730G>C uc011dmb.1 + HLA-H_uc003nod.2_Intron NM_002127 NP_002118 PKHD1 5314 broad.mit.edu 37 6 51889809 51889809 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr6:51889809C>A uc003pah.1 - 32 5075 c.4799G>T c.(4798-4800)GGA>GTA p.G1600V PKHD1_uc003pai.2_Missense_Mutation_p.G1600V NM_138694 NP_619639 DST 667 broad.mit.edu 37 6 56325024 56325024 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr6:56325024C>A uc003pdf.2 - 96 16698 c.16670G>T c.(16669-16671)CGA>CTA p.R5557L DST_uc003pcz.3_Missense_Mutation_p.R5379L|DST_uc011dxj.1_Missense_Mutation_p.R5408L|DST_uc011dxk.1_Missense_Mutation_p.R5419L|DST_uc003pcy.3_Missense_Mutation_p.R5053L|DST_uc003pcv.3_Missense_Mutation_p.R175L|DST_uc003pcw.3_Missense_Mutation_p.R136L|DST_uc003pcx.3_Missense_Mutation_p.R99L NM_001144769 NP_001138241 DST 667 broad.mit.edu 37 6 56483335 56483335 + Intron SNP C A A 2012-693:2012-1306-T g.chr6:56483335C>A uc003pdf.2 - DST_uc003pcz.3_Intron|DST_uc011dxj.1_Intron|DST_uc011dxk.1_Intron|DST_uc003pcy.3_Intron|DST_uc003pdb.2_Intron|DST_uc003pdc.3_Missense_Mutation_p.D1833Y NM_001144769 NP_001138241 DST 667 broad.mit.edu 37 6 56485163 56485163 + Intron SNP C A A 2012-693:2012-1306-T g.chr6:56485163C>A uc003pdf.2 - DST_uc003pcz.3_Intron|DST_uc011dxj.1_Intron|DST_uc011dxk.1_Intron|DST_uc003pcy.3_Intron|DST_uc003pdb.2_Intron|DST_uc003pdc.3_Missense_Mutation_p.E1223D NM_001144769 NP_001138241 EPHA7 2045 broad.mit.edu 37 6 94066629 94066629 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr6:94066629C>A uc003poe.2 - 5 1371 c.1130G>T c.(1129-1131)GGC>GTC p.G377V EPHA7_uc003pof.2_Missense_Mutation_p.G377V|EPHA7_uc011eac.1_Missense_Mutation_p.G377V NM_004440 NP_004431 ROS1 6098 broad.mit.edu 37 6 117717374 117717374 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr6:117717374C>A uc003pxp.1 - 8 1032 c.833G>T c.(832-834)AGT>ATT p.S278I ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 SYNE1 23345 broad.mit.edu 37 6 152639296 152639296 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr6:152639296C>A uc010kiw.2 - 86 17094 c.16492G>T c.(16492-16494)GCC>TCC p.A5498S SYNE1_uc010kiv.2_Missense_Mutation_p.A22S|SYNE1_uc003qos.3_Missense_Mutation_p.A22S|SYNE1_uc003qot.3_Missense_Mutation_p.A5427S|SYNE1_uc003qou.3_Missense_Mutation_p.A5498S|SYNE1_uc010kiz.2_Missense_Mutation_p.A1253S NM_182961 NP_892006 EIF2AK1 27102 broad.mit.edu 37 7 6098972 6098972 + 5'Flank SNP T G G 2012-693:2012-1306-T g.chr7:6098972T>G uc003spp.2 - EIF2AK1_uc003spq.2_5'Flank|EIF2AK1_uc011jwm.1_5'Flank NM_014413 NP_055228 BBS9 27241 broad.mit.edu 37 7 33376127 33376127 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr7:33376127C>A uc003tdn.1 + 10 1604 c.1091C>A c.(1090-1092)TCT>TAT p.S364Y BBS9_uc003tdo.1_Missense_Mutation_p.S364Y|BBS9_uc003tdp.1_Missense_Mutation_p.S364Y|BBS9_uc003tdq.1_Missense_Mutation_p.S364Y|BBS9_uc010kwn.1_RNA|BBS9_uc011kao.1_Missense_Mutation_p.S242Y NM_198428 NP_940820 PKD1L1 168507 broad.mit.edu 37 7 47906091 47906091 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr7:47906091C>A uc003tny.1 - 25 4018 c.4018G>T c.(4018-4020)GCC>TCC p.A1340S NM_138295 NP_612152 PCLO 27445 broad.mit.edu 37 7 82538241 82538241 + Silent SNP C A A 2012-693:2012-1306-T g.chr7:82538241C>A uc003uhx.2 - 8 13678 c.13389G>T c.(13387-13389)CTG>CTT p.L4463L PCLO_uc003uhv.2_Silent_p.L4463L NM_033026 NP_149015 PCLO 27445 broad.mit.edu 37 7 82544702 82544702 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr7:82544702C>A uc003uhx.2 - 7 12889 c.12600G>T c.(12598-12600)ATG>ATT p.M4200I PCLO_uc003uhv.2_Missense_Mutation_p.M4200I|PCLO_uc010lec.2_Missense_Mutation_p.M1165I NM_033026 NP_149015 RELN 5649 broad.mit.edu 37 7 103234267 103234267 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr7:103234267C>A uc003vca.2 - 27 3934 c.3774G>T c.(3772-3774)TTG>TTT p.L1258F RELN_uc010liz.2_Missense_Mutation_p.L1258F NM_005045 NP_005036 SLC26A3 1811 broad.mit.edu 37 7 107434897 107434897 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr7:107434897C>A uc003ver.2 - 2 269 c.58G>T c.(58-60)GCT>TCT p.A20S SLC26A3_uc003ves.2_Missense_Mutation_p.M1I NM_000111 NP_000102 SMO 6608 broad.mit.edu 37 7 128849168 128849168 + Missense_Mutation SNP A C C 2012-693:2012-1306-T g.chr7:128849168A>C uc003vor.2 + 8 1676 c.1396A>C c.(1396-1398)ACC>CCC p.T466P SMO_uc003vos.2_Missense_Mutation_p.T141P NM_005631 NP_005622 KIAA1549 57670 broad.mit.edu 37 7 138602281 138602281 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr7:138602281C>A uc011kql.1 - 2 2140 c.2091G>T c.(2089-2091)CAG>CAT p.Q697H KIAA1549_uc003vuk.3_Missense_Mutation_p.Q647H|KIAA1549_uc011kqj.1_Missense_Mutation_p.Q697H NM_020910 NP_065961 EZH2 2146 broad.mit.edu 37 7 148525883 148525883 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr7:148525883C>A uc003wfd.1 - 6 740 c.574G>T c.(574-576)GAT>TAT p.D192Y EZH2_uc011kug.1_Missense_Mutation_p.D183Y|EZH2_uc003wfb.1_Missense_Mutation_p.D192Y|EZH2_uc003wfc.1_Missense_Mutation_p.D153Y|EZH2_uc011kuh.1_Missense_Mutation_p.D183Y|EZH2_uc011kui.1_Missense_Mutation_p.D192Y|EZH2_uc011kuj.1_RNA NM_004456 NP_004447 MLL3 58508 broad.mit.edu 37 7 151873972 151873972 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr7:151873972C>A uc003wla.2 - 38 8785 c.8566G>T c.(8566-8568)GCT>TCT p.A2856S MLL3_uc003wkz.2_Missense_Mutation_p.A1917S|MLL3_uc003wky.2_Missense_Mutation_p.A365S NM_170606 NP_733751 MLL3 58508 broad.mit.edu 37 7 151879515 151879515 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr7:151879515C>A uc003wla.2 - 36 5649 c.5430G>T c.(5428-5430)TTG>TTT p.L1810F MLL3_uc003wkz.2_Missense_Mutation_p.L871F NM_170606 NP_733751 MLL3 58508 broad.mit.edu 37 7 151902305 151902305 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr7:151902305C>A uc003wla.2 - 25 4066 c.3847G>T c.(3847-3849)GGT>TGT p.G1283C MLL3_uc003wkz.2_Missense_Mutation_p.G344C NM_170606 NP_733751 PTPRN2 5799 broad.mit.edu 37 7 157851644 157851644 + Intron SNP G A A 2012-693:2012-1306-T g.chr7:157851644G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 TEX15 56154 broad.mit.edu 37 8 30705991 30705991 + Silent SNP G A A 2012-693:2012-1306-T g.chr8:30705991G>A uc003xil.2 - 1 543 c.543C>T c.(541-543)GCC>GCT p.A181A NM_031271 NP_112561 FGFR1 2260 broad.mit.edu 37 8 38315043 38315043 + 5'UTR SNP C G G 2012-693:2012-1306-T g.chr8:38315043C>G uc003xlp.2 - 2 FGFR1_uc011lbo.1_5'UTR|FGFR1_uc011lbp.1_5'UTR|FGFR1_uc011lbq.1_5'UTR|FGFR1_uc010lwk.2_5'UTR|FGFR1_uc011lbs.1_5'UTR|FGFR1_uc011lbt.1_5'UTR|FGFR1_uc011lbu.1_Missense_Mutation_p.L7F|FGFR1_uc011lbv.1_5'UTR|FGFR1_uc011lbw.1_5'UTR|FGFR1_uc011lbx.1_5'UTR|FGFR1_uc003xlv.2_5'UTR|FGFR1_uc003xlu.2_5'UTR|FGFR1_uc003xlw.1_RNA NM_023110 NP_075598 RB1CC1 9821 broad.mit.edu 37 8 53573718 53573718 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr8:53573718C>A uc003xre.3 - 10 2040 c.1482G>T c.(1480-1482)CAG>CAT p.Q494H RB1CC1_uc003xrf.3_Missense_Mutation_p.Q494H NM_014781 NP_055596 PLAG1 5324 broad.mit.edu 37 8 57079157 57079157 + Missense_Mutation SNP C A A 2012-693:2012-1306-T g.chr8:57079157C>A uc003xsq.3 - 3 1599 c.1148G>T c.(1147-1149)GGG>GTG p.G383V PLAG1_uc003xsr.3_Missense_Mutation_p.G383V|PLAG1_uc010lyi.2_Missense_Mutation_p.G383V|PLAG1_uc010lyj.2_Missense_Mutation_p.G301V NM_001114635 NP_001108107 SLCO5A1 81796 broad.mit.edu 37 8 70747246 70747246 + 5'UTR SNP A C C 2012-693:2012-1306-T g.chr8:70747246A>C uc003xyl.2 - 1 SLCO5A1_uc010lzb.2_5'Flank|SLCO5A1_uc011lfa.1_5'Flank|SLCO5A1_uc003xyk.2_5'Flank|SLCO5A1_uc010lzc.2_5'Flank NM_030958 NP_112220 ZFHX4 79776 broad.mit.edu 37 8 77766407 77766407 + Missense_Mutation SNP A C C 2012-693:2012-1306-T g.chr8:77766407A>C uc003yav.2 + 10 7502 c.7115A>C c.(7114-7116)GAC>GCC p.D2372A ZFHX4_uc003yau.1_Missense_Mutation_p.D2417A|ZFHX4_uc003yaw.1_Missense_Mutation_p.D2372A NM_024721 NP_078997 PKHD1L1 93035 broad.mit.edu 37 8 110530670 110530670 + Silent SNP C A A 2012-693:2012-1306-T g.chr8:110530670C>A uc003yne.2 + 73 12068 c.11964C>A c.(11962-11964)TCC>TCA p.S3988S NM_177531 NP_803875 CSMD3 114788 broad.mit.edu 37 8 113243803 113243803 + Missense_Mutation SNP T A A 2012-693:2012-1306-T g.chr8:113243803T>A uc003ynu.2 - 69 10958 c.10799A>T c.(10798-10800)GAT>GTT p.D3600V CSMD3_uc003yns.2_Missense_Mutation_p.D2802V|CSMD3_uc003ynt.2_Missense_Mutation_p.D3560V|CSMD3_uc011lhx.1_Missense_Mutation_p.D3431V NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113348876 113348876 + Intron SNP C T T 2012-693:2012-1306-T g.chr8:113348876C>T uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron|CSMD3_uc003ynw.1_Intron NM_198123 NP_937756 PBX3 5090 broad.mit.edu 37 9 128729497 128729497 + 3'UTR SNP C A A 2012-693:2012-1306-T g.chr9:128729497C>A uc004bqb.2 + 9 PBX3_uc004bqc.2_3'UTR|PBX3_uc004bqd.2_3'UTR|PBX3_uc011lzw.1_3'UTR|PBX3_uc011lzx.1_3'UTR|PBX3_uc004bqe.2_3'UTR NM_006195 NP_006186 LCN6 158062 broad.mit.edu 37 9 139642600 139642600 + Intron SNP A C C 2012-693:2012-1306-T g.chr9:139642600A>C uc004ciy.2 - LCN10_uc004ciw.2_Intron|uc004ciz.1_RNA NM_198946 NP_945184 SCNN1D 6339 broad.mit.edu 37 1 1224878 1224878 + Intron SNP T C C 2012-695:2012-1303-T g.chr1:1224878T>C uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 SCNN1D 6339 broad.mit.edu 37 1 1224919 1224919 + Intron SNP T C C 2012-695:2012-1303-T g.chr1:1224919T>C uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 PRDM16 63976 broad.mit.edu 37 1 3296460 3296460 + Intron SNP C A A 2012-695:2012-1303-T g.chr1:3296460C>A uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 HIVEP3 59269 broad.mit.edu 37 1 42010494 42010494 + Intron SNP C T T 2012-695:2012-1303-T g.chr1:42010494C>T uc001cgz.3 - HIVEP3_uc001cha.3_Intron|HIVEP3_uc001cgy.2_Intron NM_024503 NP_078779 SPAG17 200162 broad.mit.edu 37 1 118635930 118635930 + Missense_Mutation SNP C A A 2012-695:2012-1303-T g.chr1:118635930C>A uc001ehk.2 - 8 1090 c.1022G>T c.(1021-1023)GGC>GTC p.G341V NM_206996 NP_996879 LOC200030 200030 broad.mit.edu 37 1 148011069 148011069 + Intron SNP G A A 2012-695:2012-1303-T g.chr1:148011069G>A uc001eqf.2 - LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Intron|NBPF14_uc001eqq.2_Intron|NBPF14_uc010pad.1_Intron|NBPF14_uc001eqs.1_Intron NM_017940 NP_060410 OR2L2 26246 broad.mit.edu 37 1 248201959 248201959 + Silent SNP C T T 2012-695:2012-1303-T g.chr1:248201959C>T uc001idw.2 + 1 486 c.390C>T c.(388-390)CAC>CAT p.H130H OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 PCDH15 65217 broad.mit.edu 37 10 55566562 55566562 + Missense_Mutation SNP C A A 2012-695:2012-1303-T g.chr10:55566562C>A uc010qhq.1 - 36 5221 c.4826G>T c.(4825-4827)AGA>ATA p.R1609I PCDH15_uc010qhr.1_Missense_Mutation_p.R1604I NM_001142771 NP_001136243 DOCK1 1793 broad.mit.edu 37 10 128799226 128799226 + Intron SNP C G G 2012-695:2012-1303-T g.chr10:128799226C>G uc001ljt.2 + DOCK1_uc010qun.1_Intron NM_001380 NP_001371 LRRC27 80313 broad.mit.edu 37 10 134172247 134172247 + Intron SNP G A A 2012-695:2012-1303-T g.chr10:134172247G>A uc010quw.1 + LRRC27_uc001llg.2_Intron|LRRC27_uc001lli.2_Intron|LRRC27_uc001llj.2_Intron|LRRC27_uc001llk.3_Intron NM_030626 NP_085129 BRSK2 9024 broad.mit.edu 37 11 1415852 1415852 + Intron SNP G C C 2012-695:2012-1303-T g.chr11:1415852G>C uc001lti.2 + BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001ltj.2_Intron|BRSK2_uc001ltk.2_Intron|BRSK2_uc001ltl.2_Intron NM_003957 NP_003948 B4GALNT3 283358 broad.mit.edu 37 12 653017 653017 + Intron SNP G A A 2012-695:2012-1303-T g.chr12:653017G>A uc001qii.1 + B4GALNT3_uc001qij.1_Intron NM_173593 NP_775864 PTPN6 5777 broad.mit.edu 37 12 7055521 7055521 + 5'Flank SNP A C C 2012-695:2012-1303-T g.chr12:7055521A>C uc001qsa.1 + PTPN6_uc010sfr.1_5'Flank NM_080548 NP_536858 ABCD2 225 broad.mit.edu 37 12 39973367 39973367 + Missense_Mutation SNP C G G 2012-695:2012-1303-T g.chr12:39973367C>G uc001rmb.2 - 8 2273 c.1847G>C c.(1846-1848)AGA>ACA p.R616T NM_005164 NP_005155 GLI1 2735 broad.mit.edu 37 12 57853486 57853486 + 5'Flank SNP T G G 2012-695:2012-1303-T g.chr12:57853486T>G uc001snx.2 + GLI1_uc009zpp.2_5'Flank|GLI1_uc009zpq.2_5'Flank|GLI1_uc009zpr.1_5'Flank NM_005269 NP_005260 NAV3 89795 broad.mit.edu 37 12 78513434 78513434 + Missense_Mutation SNP G T T 2012-695:2012-1303-T g.chr12:78513434G>T uc001syp.2 + 15 3631 c.3458G>T c.(3457-3459)GGA>GTA p.G1153V NAV3_uc001syo.2_Missense_Mutation_p.G1153V|NAV3_uc010sub.1_Missense_Mutation_p.G653V|NAV3_uc009zsf.2_Missense_Mutation_p.G161V NM_014903 NP_055718 F7 2155 broad.mit.edu 37 13 113763202 113763202 + Intron SNP G A A 2012-695:2012-1303-T g.chr13:113763202G>A uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 F7 2155 broad.mit.edu 37 13 113763236 113763236 + Intron SNP G A A 2012-695:2012-1303-T g.chr13:113763236G>A uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 TSC2 7249 broad.mit.edu 37 16 2105339 2105339 + Intron SNP A G G 2012-695:2012-1303-T g.chr16:2105339A>G uc002con.2 + TSC2_uc010bsd.2_Intron|TSC2_uc002coo.2_Intron|TSC2_uc010uvv.1_Intron|TSC2_uc010uvw.1_Intron|TSC2_uc002cop.2_Intron NM_000548 NP_000539 TSC2 7249 broad.mit.edu 37 16 2105345 2105345 + Intron SNP A G G 2012-695:2012-1303-T g.chr16:2105345A>G uc002con.2 + TSC2_uc010bsd.2_Intron|TSC2_uc002coo.2_Intron|TSC2_uc010uvv.1_Intron|TSC2_uc010uvw.1_Intron|TSC2_uc002cop.2_Intron NM_000548 NP_000539 TSC2 7249 broad.mit.edu 37 16 2105348 2105348 + Intron SNP T G G 2012-695:2012-1303-T g.chr16:2105348T>G uc002con.2 + TSC2_uc010bsd.2_Intron|TSC2_uc002coo.2_Intron|TSC2_uc010uvv.1_Intron|TSC2_uc010uvw.1_Intron|TSC2_uc002cop.2_Intron NM_000548 NP_000539 ABAT 18 broad.mit.edu 37 16 8866569 8866569 + Intron SNP G T T 2012-695:2012-1303-T g.chr16:8866569G>T uc002czc.3 + ABAT_uc002czd.3_Intron|ABAT_uc010buh.2_Intron|ABAT_uc010bui.2_Intron NM_020686 NP_065737 HYDIN 54768 broad.mit.edu 37 16 70928259 70928259 + Intron SNP C G G rs75758074 2012-695:2012-1303-T g.chr16:70928259C>G uc002ezr.2 - NM_032821 NP_116210 ABR 29 broad.mit.edu 37 17 1056898 1056898 + Intron SNP G A A 2012-695:2012-1303-T g.chr17:1056898G>A uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 TP53 7157 broad.mit.edu 37 17 7578272 7578272 + Missense_Mutation SNP G C C 2012-695:2012-1303-T g.chr17:7578272G>C uc002gim.2 - 6 771 c.577C>G c.(577-579)CAT>GAT p.H193D TP53_uc002gig.1_Missense_Mutation_p.H193D|TP53_uc002gih.2_Missense_Mutation_p.H193D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61D|TP53_uc010cng.1_Missense_Mutation_p.H61D|TP53_uc002gii.1_Missense_Mutation_p.H61D|TP53_uc010cnh.1_Missense_Mutation_p.H193D|TP53_uc010cni.1_Missense_Mutation_p.H193D|TP53_uc002gij.2_Missense_Mutation_p.H193D|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100D|TP53_uc002gio.2_Missense_Mutation_p.H61D|TP53_uc010vug.1_Missense_Mutation_p.H154D NM_001126112 NP_001119584 MYH8 4626 broad.mit.edu 37 17 10300033 10300033 + Silent SNP G C C 2012-695:2012-1303-T g.chr17:10300033G>C uc002gmm.2 - 32 4460 c.4365C>G c.(4363-4365)GTC>GTG p.V1455V uc002gml.1_Intron NM_002472 NP_002463 MYH2 4620 broad.mit.edu 37 17 10433292 10433292 + Missense_Mutation SNP C T T 2012-695:2012-1303-T g.chr17:10433292C>T uc010coi.2 - 23 2925 c.2797G>A c.(2797-2799)GAG>AAG p.E933K uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E933K|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 PRCD 768206 broad.mit.edu 37 17 74523022 74523022 + 5'Flank SNP G C C 2012-695:2012-1303-T g.chr17:74523022G>C uc002jrw.1 + RPTOR 57521 broad.mit.edu 37 17 78904347 78904347 + Intron SNP A C C 2012-695:2012-1303-T g.chr17:78904347A>C uc002jyt.1 + RPTOR_uc010wug.1_Intron NM_020761 NP_065812 NLRP4 147945 broad.mit.edu 37 19 56362077 56362077 + Intron SNP G A A 2012-695:2012-1303-T g.chr19:56362077G>A uc002qmd.3 + NM_134444 NP_604393 MYT1L 23040 broad.mit.edu 37 2 2240339 2240339 + Intron SNP T C C 2012-695:2012-1303-T g.chr2:2240339T>C uc002qxe.2 - MYT1L_uc002qxd.2_Intron NM_015025 NP_055840 RMND5A 64795 broad.mit.edu 37 2 87623376 87623376 + Intron SNP G A A 2012-695:2012-1303-T g.chr2:87623376G>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87643318 87643318 + Intron SNP A G G 2012-695:2012-1303-T g.chr2:87643318A>G uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87646001 87646001 + Intron SNP A T T 2012-695:2012-1303-T g.chr2:87646001A>T uc002srs.3 + INPP4A 3631 broad.mit.edu 37 2 99162485 99162485 + Missense_Mutation SNP C G G 2012-695:2012-1303-T g.chr2:99162485C>G uc002syy.2 + 12 1396 c.1003C>G c.(1003-1005)CCC>GCC p.P335A INPP4A_uc010yvj.1_Missense_Mutation_p.P335A|INPP4A_uc010yvk.1_Missense_Mutation_p.P335A|INPP4A_uc002syx.2_Missense_Mutation_p.P335A|INPP4A_uc010fik.2_Intron NM_001134224 NP_001127696 FBLN7 129804 broad.mit.edu 37 2 112896946 112896946 + Intron SNP T C C 2012-695:2012-1303-T g.chr2:112896946T>C uc002tho.1 + FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Intron|FBLN7_uc010fkj.1_Intron NM_153214 NP_694946 TTN 7273 broad.mit.edu 37 2 179435820 179435820 + Silent SNP T C C 2012-695:2012-1303-T g.chr2:179435820T>C uc010zfg.1 - 275 67559 c.67335A>G c.(67333-67335)CCA>CCG p.P22445P uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P16140P|TTN_uc010zfi.1_Silent_p.P16073P|TTN_uc010zfj.1_Silent_p.P15948P NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179499780 179499780 + Intron SNP A G G 2012-695:2012-1303-T g.chr2:179499780A>G uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179583186 179583186 + Missense_Mutation SNP C T T 2012-695:2012-1303-T g.chr2:179583186C>T uc010zfg.1 - 82 21139 c.20915G>A c.(20914-20916)AGA>AAA p.R6972K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3633K NM_133378 NP_596869 MAP2 4133 broad.mit.edu 37 2 210598703 210598703 + 3'UTR SNP C T T 2012-695:2012-1303-T g.chr2:210598703C>T uc002vde.1 + 15 MAP2_uc002vdd.1_3'UTR|MAP2_uc002vdf.1_3'UTR|MAP2_uc002vdg.1_3'UTR|MAP2_uc002vdh.1_3'UTR|MAP2_uc002vdi.1_3'UTR NM_002374 NP_002365 MLPH 79083 broad.mit.edu 37 2 238453065 238453065 + Intron SNP G C C 2012-695:2012-1303-T g.chr2:238453065G>C uc002vwt.2 + MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Intron|MLPH_uc002vwu.2_Intron|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Intron|MLPH_uc010fyu.2_Intron NM_024101 NP_077006 C20orf26 26074 broad.mit.edu 37 20 20336149 20336149 + Intron SNP C G G 2012-695:2012-1303-T g.chr20:20336149C>G uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 C20orf26 26074 broad.mit.edu 37 20 20336421 20336421 + Intron SNP G C C 2012-695:2012-1303-T g.chr20:20336421G>C uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 FAM19A5 25817 broad.mit.edu 37 22 49062364 49062364 + Intron SNP A C C 2012-695:2012-1303-T g.chr22:49062364A>C uc003bim.3 + FAM19A5_uc003bio.3_Intron NM_001082967 NP_001076436 SRGAP3 9901 broad.mit.edu 37 3 9094673 9094673 + Intron SNP G T T 2012-695:2012-1303-T g.chr3:9094673G>T uc003brf.1 - SRGAP3_uc003brg.1_Intron|SRGAP3_uc003bri.1_Intron|SRGAP3_uc003brj.1_Intron NM_014850 NP_055665 PIK3CB 5291 broad.mit.edu 37 3 138402510 138402510 + Intron SNP C T T 2012-695:2012-1303-T g.chr3:138402510C>T uc011bmq.1 - PIK3CB_uc011bmn.1_Intron|PIK3CB_uc011bmo.1_Intron|PIK3CB_uc011bmp.1_Intron NM_006219 NP_006210 GMPS 8833 broad.mit.edu 37 3 155654141 155654141 + Missense_Mutation SNP A G G 2012-695:2012-1303-T g.chr3:155654141A>G uc003faq.2 + 15 2157 c.1822A>G c.(1822-1824)ATC>GTC p.I608V GMPS_uc011bom.1_Missense_Mutation_p.I509V NM_003875 NP_003866 PCGF3 10336 broad.mit.edu 37 4 710314 710314 + Intron SNP T C C 2012-695:2012-1303-T g.chr4:710314T>C uc011bva.1 + PCGF3_uc003gbc.1_Intron|PCGF3_uc003gbd.1_Intron|PCGF3_uc003gbe.2_Intron|PCGF3_uc010ibh.2_Intron NM_006315 NP_006306 GRSF1 2926 broad.mit.edu 37 4 71705732 71705732 + 5'Flank SNP G T T 2012-695:2012-1303-T g.chr4:71705732G>T uc010iia.1 - GRSF1_uc011caz.1_5'Flank|GRSF1_uc003hfs.2_5'Flank NM_002092 NP_002083 FAT1 2195 broad.mit.edu 37 4 187530937 187530937 + Intron SNP T C C 2012-695:2012-1303-T g.chr4:187530937T>C uc003izf.2 - NM_005245 NP_005236 ADAMTS12 81792 broad.mit.edu 37 5 33576200 33576200 + Missense_Mutation SNP C T T rs138603217 2012-695:2012-1303-T g.chr5:33576200C>T uc003jia.1 - 19 4094 c.3931G>A c.(3931-3933)GGC>AGC p.G1311S ADAMTS12_uc010iuq.1_Missense_Mutation_p.G1226S NM_030955 NP_112217 MSH3 4437 broad.mit.edu 37 5 80083378 80083378 + Intron SNP C T T 2012-695:2012-1303-T g.chr5:80083378C>T uc003kgz.2 + NM_002439 NP_002430 SLCO4C1 353189 broad.mit.edu 37 5 101627007 101627008 + Intron DNP TC AA AA 2012-695:2012-1303-T g.chr5:101627007_101627008TC>AA uc003knm.2 - NM_180991 NP_851322 TAP2 6891 broad.mit.edu 37 6 32803453 32803453 + Missense_Mutation SNP G T T 2012-695:2012-1303-T g.chr6:32803453G>T uc003occ.2 - 3 737 c.706C>A c.(706-708)CAG>AAG p.Q236K TAP2_uc011dqf.1_Missense_Mutation_p.Q236K|TAP2_uc003ocb.1_Missense_Mutation_p.Q236K|TAP2_uc003ocd.2_Missense_Mutation_p.Q236K NM_018833 NP_061313 TAP1 6890 broad.mit.edu 37 6 32818628 32818628 + Intron SNP G A A 2012-695:2012-1303-T g.chr6:32818628G>A uc003ocg.2 - TAP1_uc011dqi.1_Intron NM_000593 NP_000584 DST 667 broad.mit.edu 37 6 56475314 56475314 + Missense_Mutation SNP G C C 2012-695:2012-1303-T g.chr6:56475314G>C uc003pdf.2 - 38 5123 c.5095C>G c.(5095-5097)CTT>GTT p.L1699V DST_uc003pcz.3_Missense_Mutation_p.L1521V|DST_uc011dxj.1_Missense_Mutation_p.L1550V|DST_uc011dxk.1_Missense_Mutation_p.L1561V|DST_uc003pcy.3_Missense_Mutation_p.L1195V|DST_uc003pdb.2_Missense_Mutation_p.L1195V NM_001144769 NP_001138241 STX7 8417 broad.mit.edu 37 6 132812200 132812200 + Intron SNP T C C 2012-695:2012-1303-T g.chr6:132812200T>C uc003qdg.2 - STX7_uc011ecg.1_Intron|STX7_uc011ech.1_Intron NM_003569 NP_003560 SYNE1 23345 broad.mit.edu 37 6 152560836 152560836 + Nonsense_Mutation SNP G C C 2012-695:2012-1303-T g.chr6:152560836G>C uc010kiw.2 - 108 20501 c.19899C>G c.(19897-19899)TAC>TAG p.Y6633* SYNE1_uc010kiv.2_Nonsense_Mutation_p.Y1157*|SYNE1_uc003qos.3_Nonsense_Mutation_p.Y1157*|SYNE1_uc003qot.3_Nonsense_Mutation_p.Y6562*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Y6633* NM_182961 NP_892006 EIF2AK1 27102 broad.mit.edu 37 7 6098972 6098972 + 5'Flank SNP T G G 2012-695:2012-1303-T g.chr7:6098972T>G uc003spp.2 - EIF2AK1_uc003spq.2_5'Flank|EIF2AK1_uc011jwm.1_5'Flank NM_014413 NP_055228 VPS41 27072 broad.mit.edu 37 7 38948836 38948836 + 5'Flank SNP G T T 2012-695:2012-1303-T g.chr7:38948836G>T uc003tgy.2 - VPS41_uc003tgz.2_5'Flank|VPS41_uc010kxn.2_5'Flank NM_014396 NP_055211 PKD1L1 168507 broad.mit.edu 37 7 47925503 47925503 + Missense_Mutation SNP T G G 2012-695:2012-1303-T g.chr7:47925503T>G uc003tny.1 - 18 2986 c.2986A>C c.(2986-2988)ACC>CCC p.T996P NM_138295 NP_612152 EGFR 1956 broad.mit.edu 37 7 55273149 55273149 + Missense_Mutation SNP G C C rs140028234 2012-695:2012-1303-T g.chr7:55273149G>C uc003tqk.2 + 28 3718 c.3472G>C c.(3472-3474)GCC>CCC p.A1158P EGFR_uc011kco.1_Missense_Mutation_p.A1105P NM_005228 NP_005219 CNTNAP2 26047 broad.mit.edu 37 7 147674928 147674928 + Intron SNP T C C 2012-695:2012-1303-T g.chr7:147674928T>C uc003weu.1 + NM_014141 NP_054860 PKHD1L1 93035 broad.mit.edu 37 8 110401393 110401393 + Intron SNP T C C 2012-695:2012-1303-T g.chr8:110401393T>C uc003yne.2 + NM_177531 NP_803875 CSMD3 114788 broad.mit.edu 37 8 113326851 113326851 + Intron SNP C G G 2012-695:2012-1303-T g.chr8:113326851C>G uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron|CSMD3_uc003ynw.1_Intron NM_198123 NP_937756 ZC3H3 23144 broad.mit.edu 37 8 144569339 144569339 + Intron SNP G A A 2012-695:2012-1303-T g.chr8:144569339G>A uc003yyd.2 - NM_015117 NP_055932 ADAMTSL1 92949 broad.mit.edu 37 9 18639427 18639427 + Intron SNP A C C 2012-695:2012-1303-T g.chr9:18639427A>C uc003zne.3 + ADAMTSL1_uc003znb.2_Intron|ADAMTSL1_uc003znc.3_Intron NM_001040272 NP_001035362 NOTCH1 4851 broad.mit.edu 37 9 139413147 139413147 + Missense_Mutation SNP C T T 2012-695:2012-1303-T g.chr9:139413147C>T uc004chz.2 - 6 995 c.995G>A c.(994-996)TGC>TAC p.C332Y NM_017617 NP_060087 PLCXD1 55344 broad.mit.edu 37 X 197197 197197 + 5'Flank SNP G A A 2012-695:2012-1303-T g.chrX:197197G>A uc004cpc.2 + PLCXD1_uc011mgx.1_Intron NM_018390 NP_060860 CLCN4 1183 broad.mit.edu 37 X 10163169 10163169 + Intron SNP A C C 2012-695:2012-1303-T g.chrX:10163169A>C uc004csy.3 + CLCN4_uc011mid.1_Intron NM_001830 NP_001821 FANCB 2187 broad.mit.edu 37 X 14887147 14887147 + 5'UTR SNP C G G rs2188383 by1000genomes 2012-695:2012-1303-T g.chrX:14887147C>G uc004cwg.1 - 2 FANCB_uc004cwh.1_Intron NM_001018113 NP_001018123 PIR 8544 broad.mit.edu 37 X 15451926 15451926 + Intron SNP A C C 2012-695:2012-1303-T g.chrX:15451926A>C uc004cwu.2 - PIR_uc004cwv.2_Intron NM_003662 NP_003653 SPTA1 6708 broad.mit.edu 37 1 158647669 158647669 + Intron SNP T C C rs703122 by1000genomes 2012-696:2012-1305-T g.chr1:158647669T>C uc001fst.1 - NM_003126 NP_003117 LGR6 59352 broad.mit.edu 37 1 202173384 202173384 + Intron SNP A C C 2012-696:2012-1305-T g.chr1:202173384A>C uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 PTPRE 5791 broad.mit.edu 37 10 129738095 129738095 + Intron SNP T G G 2012-696:2012-1305-T g.chr10:129738095T>G uc001lkb.2 + PTPRE_uc009yat.2_Intron NM_006504 NP_006495 INPP5A 3632 broad.mit.edu 37 10 134517263 134517263 + Intron SNP A C C 2012-696:2012-1305-T g.chr10:134517263A>C uc001llp.2 + INPP5A_uc001llo.1_Intron|INPP5A_uc001llq.2_Intron NM_005539 NP_005530 GPR123 84435 broad.mit.edu 37 10 134883065 134883065 + 5'Flank SNP T G G 2012-696:2012-1305-T g.chr10:134883065T>G uc001llw.2 + LRRK2 120892 broad.mit.edu 37 12 40707769 40707769 + Intron SNP C T T 2012-696:2012-1305-T g.chr12:40707769C>T uc001rmg.3 + LRRK2_uc009zjw.2_Intron|LRRK2_uc001rmi.2_Intron NM_198578 NP_940980 GLI1 2735 broad.mit.edu 37 12 57853486 57853486 + 5'Flank SNP T G G 2012-696:2012-1305-T g.chr12:57853486T>G uc001snx.2 + GLI1_uc009zpp.2_5'Flank|GLI1_uc009zpq.2_5'Flank|GLI1_uc009zpr.1_5'Flank NM_005269 NP_005260 ASCL4 121549 broad.mit.edu 37 12 108168585 108168585 + 5'UTR SNP A G G rs11113472 by1000genomes 2012-696:2012-1305-T g.chr12:108168585A>G uc001tmr.2 + 1 NM_203436 NP_982260 TMEM120B 144404 broad.mit.edu 37 12 122185426 122185426 + Intron SNP G A A 2012-696:2012-1305-T g.chr12:122185426G>A uc001ubc.3 + TMEM120B_uc009zxh.2_Intron NM_001080825 NP_001074294 GALNT9 50614 broad.mit.edu 37 12 132867996 132867996 + Intron SNP A C C 2012-696:2012-1305-T g.chr12:132867996A>C uc001ukc.3 - GALNT9_uc009zys.2_Intron NM_001122636 NP_001116108 COL4A2 1284 broad.mit.edu 37 13 111133897 111133897 + Intron SNP C T T 2012-696:2012-1305-T g.chr13:111133897C>T uc001vqx.2 + NM_001846 NP_001837 RASA3 22821 broad.mit.edu 37 13 114891570 114891570 + Intron SNP T C C rs28457827 2012-696:2012-1305-T g.chr13:114891570T>C uc001vui.2 - RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron NM_007368 NP_031394 CORO7 79585 broad.mit.edu 37 16 4394481 4394481 + Intron SNP G C C 2012-696:2012-1305-T g.chr16:4394481G>C uc002cwf.2 - CORO7_uc002cwe.2_Intron|TIMM16_uc002cwd.2_Intron NM_024535 NP_078811 CORO7 79585 broad.mit.edu 37 16 4394565 4394565 + Intron SNP G A A 2012-696:2012-1305-T g.chr16:4394565G>A uc002cwf.2 - CORO7_uc002cwe.2_Intron|TIMM16_uc002cwd.2_Intron NM_024535 NP_078811 PHKG2 5261 broad.mit.edu 37 16 30760548 30760548 + Intron SNP T G G 2012-696:2012-1305-T g.chr16:30760548T>G uc002dzk.1 + PHKG2_uc002dzi.1_Intron|PHKG2_uc002dzj.1_Intron|PHKG2_uc002dzl.1_Intron NM_000294 NP_000285 CYLD 1540 broad.mit.edu 37 16 50830253 50830253 + Missense_Mutation SNP A T T 2012-696:2012-1305-T g.chr16:50830253A>T uc002egp.1 + 19 3120 c.2705A>T c.(2704-2706)AAC>ATC p.N902I CYLD_uc002egq.1_Missense_Mutation_p.N899I|CYLD_uc002egr.1_Missense_Mutation_p.N899I NM_015247 NP_056062 SPIRE2 84501 broad.mit.edu 37 16 89919142 89919142 + Intron SNP G A A 2012-696:2012-1305-T g.chr16:89919142G>A uc002foz.1 + SPIRE2_uc010civ.1_Intron|SPIRE2_uc010ciw.1_Intron|SPIRE2_uc002fpa.1_Intron|SPIRE2_uc010cix.1_Intron NM_032451 NP_115827 ABR 29 broad.mit.edu 37 17 1050093 1050093 + Intron SNP A C C 2012-696:2012-1305-T g.chr17:1050093A>C uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 KRT9 3857 broad.mit.edu 37 17 39723885 39723885 + Silent SNP A C C 2012-696:2012-1305-T g.chr17:39723885A>C uc002hxe.3 - 7 1578 c.1512T>G c.(1510-1512)GGT>GGG p.G504G JUP_uc010wfs.1_Intron NM_000226 NP_000217 RPTOR 57521 broad.mit.edu 37 17 78904347 78904347 + Intron SNP A C C 2012-696:2012-1305-T g.chr17:78904347A>C uc002jyt.1 + RPTOR_uc010wug.1_Intron NM_020761 NP_065812 EPB41L3 23136 broad.mit.edu 37 18 5505731 5505731 + Intron SNP A C C 2012-696:2012-1305-T g.chr18:5505731A>C uc002kmt.1 - EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc010dks.1_Intron|EPB41L3_uc002kmv.1_Intron NM_012307 NP_036439 RMND5A 64795 broad.mit.edu 37 2 87625322 87625322 + Intron SNP A C C 2012-696:2012-1305-T g.chr2:87625322A>C uc002srs.3 + MYO7B 4648 broad.mit.edu 37 2 128376619 128376619 + Intron SNP C G G 2012-696:2012-1305-T g.chr2:128376619C>G uc002top.2 + MYO7B_uc002toq.1_5'Flank|MYO7B_uc002tor.1_5'Flank NM_001080527 NP_001073996 C20orf26 26074 broad.mit.edu 37 20 20336081 20336081 + Intron SNP G A A 2012-696:2012-1305-T g.chr20:20336081G>A uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 BAGE2 85319 broad.mit.edu 37 21 11085602 11085602 + Intron SNP C T T 2012-696:2012-1305-T g.chr21:11085602C>T uc002yit.1 - BAGE_uc002yix.2_Intron NM_182482 NP_872288 MPPED1 758 broad.mit.edu 37 22 43891812 43891812 + Intron SNP A G G 2012-696:2012-1305-T g.chr22:43891812A>G uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 MPPED1 758 broad.mit.edu 37 22 43896184 43896184 + Intron SNP A G G 2012-696:2012-1305-T g.chr22:43896184A>G uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 BBX 56987 broad.mit.edu 37 3 107380821 107380821 + Intron SNP A G G rs329926 by1000genomes 2012-696:2012-1305-T g.chr3:107380821A>G uc010hpr.2 + BBX_uc003dwk.3_Intron|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Intron|BBX_uc003dwm.3_Intron NM_001142568 NP_001136040 PCYT1A 5130 broad.mit.edu 37 3 195977912 195977912 + Intron SNP C T T 2012-696:2012-1305-T g.chr3:195977912C>T uc003fwg.2 - PCYT1A_uc003fwh.2_Intron NM_005017 NP_005008 MAN2B2 23324 broad.mit.edu 37 4 6580952 6580952 + Intron SNP C T T 2012-696:2012-1305-T g.chr4:6580952C>T uc003gjf.1 + MAN2B2_uc003gje.1_Intron|MAN2B2_uc011bwf.1_Intron NM_015274 NP_056089 SORCS2 57537 broad.mit.edu 37 4 7707890 7707890 + Intron SNP T C C rs112695922 2012-696:2012-1305-T g.chr4:7707890T>C uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 TERT 7015 broad.mit.edu 37 5 1273577 1273577 + Intron SNP C T T 2012-696:2012-1305-T g.chr5:1273577C>T uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 E2F3 1871 broad.mit.edu 37 6 20401776 20401776 + 5'Flank SNP G A A 2012-696:2012-1305-T g.chr6:20401776G>A uc003nda.2 + E2F3_uc003ncz.2_5'Flank NM_001949 NP_001940 HLA-C 3107 broad.mit.edu 37 6 31237323 31237323 + Intron SNP A G G rs68094471 2012-696:2012-1305-T g.chr6:31237323A>G uc003nsy.2 - HLA-C_uc011dnj.1_Intron|HLA-C_uc003nsx.2_Intron|HLA-C_uc003nsz.2_Intron|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Intron|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron NM_002117 NP_002108 T 6862 broad.mit.edu 37 6 166576234 166576234 + Intron SNP C G G 2012-696:2012-1305-T g.chr6:166576234C>G uc003quu.1 - T_uc003qut.1_Intron|T_uc003quv.1_Intron NM_003181 NP_003172 EIF2AK1 27102 broad.mit.edu 37 7 6098972 6098972 + 5'Flank SNP T G G 2012-696:2012-1305-T g.chr7:6098972T>G uc003spp.2 - EIF2AK1_uc003spq.2_5'Flank|EIF2AK1_uc011jwm.1_5'Flank NM_014413 NP_055228 SLCO5A1 81796 broad.mit.edu 37 8 70747134 70747134 + 5'UTR SNP A G G 2012-696:2012-1305-T g.chr8:70747134A>G uc003xyl.2 - 1 SLCO5A1_uc010lzb.2_5'Flank|SLCO5A1_uc011lfa.1_5'Flank|SLCO5A1_uc003xyk.2_5'Flank|SLCO5A1_uc010lzc.2_5'Flank NM_030958 NP_112220 CSMD3 114788 broad.mit.edu 37 8 113504960 113504960 + Intron SNP G T T 2012-696:2012-1305-T g.chr8:113504960G>T uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 LINGO2 158038 broad.mit.edu 37 9 28189443 28189443 + Intron SNP G A A 2012-696:2012-1305-T g.chr9:28189443G>A uc003zqu.1 - LINGO2_uc010mjf.1_Intron|LINGO2_uc003zqv.1_Intron NM_152570 NP_689783 FANCC 2176 broad.mit.edu 37 9 97873957 97873957 + Intron SNP A G G rs4647534 by1000genomes 2012-696:2012-1305-T g.chr9:97873957A>G uc004avh.2 - FANCC_uc004avi.3_Intron NM_000136 NP_000127 CLCN4 1183 broad.mit.edu 37 X 10163169 10163169 + Intron SNP A C C 2012-696:2012-1305-T g.chrX:10163169A>C uc004csy.3 + CLCN4_uc011mid.1_Intron NM_001830 NP_001821 FLG 2312 broad.mit.edu 37 1 152277767 152277767 + Missense_Mutation SNP G T T 2012-699:2012-1304-T g.chr1:152277767G>T uc001ezu.1 - 3 9631 c.9595C>A c.(9595-9597)CAG>AAG p.Q3199K NM_002016 NP_002007 MDM4 4194 broad.mit.edu 37 1 204485123 204485123 + 5'Flank SNP C T T 2012-699:2012-1304-T g.chr1:204485123C>T uc001hba.2 + MDM4_uc001hbd.1_5'Flank|MDM4_uc010pqw.1_5'Flank|MDM4_uc010pqx.1_5'Flank|MDM4_uc001hay.1_5'Flank|MDM4_uc001hbb.2_5'Flank|MDM4_uc010pqy.1_5'Flank|MDM4_uc001hbc.2_5'Flank NM_002393 NP_002384 SMYD3 64754 broad.mit.edu 37 1 246139851 246139851 + Intron SNP T C C 2012-699:2012-1304-T g.chr1:246139851T>C uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 GPR123 84435 broad.mit.edu 37 10 134891599 134891599 + Intron SNP C T T 2012-699:2012-1304-T g.chr10:134891599C>T uc001llw.2 + KNDC1 85442 broad.mit.edu 37 10 134998762 134998762 + Intron SNP A G G 2012-699:2012-1304-T g.chr10:134998762A>G uc001llz.1 + KNDC1_uc001lma.1_Intron NM_152643 NP_689856 KNDC1 85442 broad.mit.edu 37 10 134998788 134998788 + Intron SNP A G G 2012-699:2012-1304-T g.chr10:134998788A>G uc001llz.1 + KNDC1_uc001lma.1_Intron NM_152643 NP_689856 MUC5B 727897 broad.mit.edu 37 11 1212954 1212954 + Intron SNP C A A rs35216491 by1000genomes 2012-699:2012-1304-T g.chr11:1212954C>A uc009ycr.1 + uc001lsz.2_5'Flank NM_017511 NP_059981 TSPAN9 10867 broad.mit.edu 37 12 3377563 3377563 + Intron SNP T C C 2012-699:2012-1304-T g.chr12:3377563T>C uc001qlp.2 + NM_006675 NP_006666 TSPAN9 10867 broad.mit.edu 37 12 3377583 3377584 + Intron DNP CG TC TC 2012-699:2012-1304-T g.chr12:3377583_3377584CG>TC uc001qlp.2 + NM_006675 NP_006666 TSPAN9 10867 broad.mit.edu 37 12 3377587 3377587 + Intron SNP C T T 2012-699:2012-1304-T g.chr12:3377587C>T uc001qlp.2 + NM_006675 NP_006666 ENOX1 55068 broad.mit.edu 37 13 43867237 43867237 + Intron SNP A C C 2012-699:2012-1304-T g.chr13:43867237A>C uc001uza.3 - ENOX1_uc001uzb.3_Intron|ENOX1_uc001uzc.3_Intron|ENOX1_uc001uyz.3_Intron NM_001127615 NP_001121087 GPC5 2262 broad.mit.edu 37 13 92345839 92345839 + Silent SNP C T T 2012-699:2012-1304-T g.chr13:92345839C>T uc010tif.1 + 3 1090 c.724C>T c.(724-726)CTG>TTG p.L242L NM_004466 NP_004457 DCT 1638 broad.mit.edu 37 13 95112451 95112451 + Missense_Mutation SNP T C C 2012-699:2012-1304-T g.chr13:95112451T>C uc001vlv.3 - 6 1500 c.1073A>G c.(1072-1074)GAT>GGT p.D358G DCT_uc010afh.2_Missense_Mutation_p.D358G NM_001922 NP_001913 COL4A2 1284 broad.mit.edu 37 13 111007864 111007864 + Intron SNP T G G 2012-699:2012-1304-T g.chr13:111007864T>G uc001vqx.2 + NM_001846 NP_001837 F7 2155 broad.mit.edu 37 13 113761687 113761687 + Intron SNP G A A 2012-699:2012-1304-T g.chr13:113761687G>A uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 RASA3 22821 broad.mit.edu 37 13 114891570 114891570 + Intron SNP T C C rs28457827 2012-699:2012-1304-T g.chr13:114891570T>C uc001vui.2 - RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron NM_007368 NP_031394 RAD51L1 5890 broad.mit.edu 37 14 68290285 68290285 + Missense_Mutation SNP G A A rs34583846 byFrequency;by1000genomes 2012-699:2012-1304-T g.chr14:68290285G>A uc001xkf.1 + 2 89 c.25G>A c.(25-27)GTG>ATG p.V9M RAD51L1_uc010aqq.2_Missense_Mutation_p.V9M|RAD51L1_uc001xkd.2_Missense_Mutation_p.V9M|RAD51L1_uc010aqr.2_Translation_Start_Site|RAD51L1_uc001xke.2_Missense_Mutation_p.V9M|RAD51L1_uc010aqs.1_Missense_Mutation_p.V9M|RAD51L1_uc001xkg.1_Missense_Mutation_p.V9M NM_133509 NP_598193 TMEM8A 58986 broad.mit.edu 37 16 428253 428253 + Intron SNP C G G rs62030803 by1000genomes 2012-699:2012-1304-T g.chr16:428253C>G uc002cgu.3 - TMEM8A_uc002cgv.3_Intron NM_021259 NP_067082 TSC2 7249 broad.mit.edu 37 16 2105345 2105345 + Intron SNP A G G 2012-699:2012-1304-T g.chr16:2105345A>G uc002con.2 + TSC2_uc010bsd.2_Intron|TSC2_uc002coo.2_Intron|TSC2_uc010uvv.1_Intron|TSC2_uc010uvw.1_Intron|TSC2_uc002cop.2_Intron NM_000548 NP_000539 TSC2 7249 broad.mit.edu 37 16 2122920 2122920 + Missense_Mutation SNP T A A 2012-699:2012-1304-T g.chr16:2122920T>A uc002con.2 + 21 2397 c.2291T>A c.(2290-2292)CTG>CAG p.L764Q TSC2_uc010bsd.2_Missense_Mutation_p.L764Q|TSC2_uc002coo.2_Missense_Mutation_p.L764Q|TSC2_uc010uvv.1_Missense_Mutation_p.L727Q|TSC2_uc010uvw.1_Missense_Mutation_p.L715Q|TSC2_uc002cop.2_Missense_Mutation_p.L564Q NM_000548 NP_000539 TRIM72 493829 broad.mit.edu 37 16 31233351 31233351 + Intron SNP C A A 2012-699:2012-1304-T g.chr16:31233351C>A uc002ebn.1 + NM_001008274 NP_001008275 RPH3AL 9501 broad.mit.edu 37 17 157153 157153 + Intron SNP T C C 2012-699:2012-1304-T g.chr17:157153T>C uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 ABR 29 broad.mit.edu 37 17 1046515 1046515 + Intron SNP A G G 2012-699:2012-1304-T g.chr17:1046515A>G uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 GAS7 8522 broad.mit.edu 37 17 9821388 9821388 + Missense_Mutation SNP A C C 2012-699:2012-1304-T g.chr17:9821388A>C uc002gmg.1 - 13 1408 c.1247T>G c.(1246-1248)GTA>GGA p.V416G GAS7_uc010vvc.1_Missense_Mutation_p.V230G|GAS7_uc002gmh.1_Missense_Mutation_p.V276G|GAS7_uc010vvd.1_Missense_Mutation_p.V368G|GAS7_uc002gmi.2_Missense_Mutation_p.V352G|GAS7_uc002gmj.1_Missense_Mutation_p.V356G|GAS7_uc010coh.1_Missense_Mutation_p.V356G NM_201433 NP_958839 10-Mar 162333 broad.mit.edu 37 17 60871060 60871060 + Intron SNP T C C rs148392127 by1000genomes 2012-699:2012-1304-T g.chr17:60871060T>C uc010ddr.2 - MARCH10_uc002jag.3_Intron|MARCH10_uc010dds.2_Intron|MARCH10_uc002jah.2_Intron NM_001100875 NP_001094345 PRKCA 5578 broad.mit.edu 37 17 64795190 64795190 + Intron SNP G T T 2012-699:2012-1304-T g.chr17:64795190G>T uc002jfp.1 + NM_002737 NP_002728 PRKCA 5578 broad.mit.edu 37 17 64795585 64795585 + Intron SNP T C C 2012-699:2012-1304-T g.chr17:64795585T>C uc002jfp.1 + NM_002737 NP_002728 RPTOR 57521 broad.mit.edu 37 17 78814156 78814156 + Intron SNP G A A rs113199399 2012-699:2012-1304-T g.chr17:78814156G>A uc002jyt.1 + RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 RPTOR 57521 broad.mit.edu 37 17 78814173 78814173 + Intron SNP A G G rs148700666 by1000genomes 2012-699:2012-1304-T g.chr17:78814173A>G uc002jyt.1 + RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 TPRX1 284355 broad.mit.edu 37 19 48305634 48305634 + Missense_Mutation SNP A G G 2012-699:2012-1304-T g.chr19:48305634A>G uc002php.1 - 2 705 c.634T>C c.(634-636)TCA>CCA p.S212P NM_198479 NP_940881 PPP1R12C 54776 broad.mit.edu 37 19 55621724 55621724 + Intron SNP G A A 2012-699:2012-1304-T g.chr19:55621724G>A uc002qix.2 - PPP1R12C_uc010yfs.1_Intron|PPP1R12C_uc002qiy.2_Intron NM_017607 NP_060077 NLRP11 204801 broad.mit.edu 37 19 56307547 56307547 + Missense_Mutation SNP A C C 2012-699:2012-1304-T g.chr19:56307547A>C uc010ygf.1 - 8 2952 c.2241T>G c.(2239-2241)AGT>AGG p.S747R NLRP11_uc002qlz.2_Missense_Mutation_p.S594R|NLRP11_uc002qmb.2_Missense_Mutation_p.S648R|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 NLRP4 147945 broad.mit.edu 37 19 56361878 56361878 + Intron SNP T A A rs79264528 2012-699:2012-1304-T g.chr19:56361878T>A uc002qmd.3 + NM_134444 NP_604393 NLRP4 147945 broad.mit.edu 37 19 56362675 56362675 + Intron SNP C A A 2012-699:2012-1304-T g.chr19:56362675C>A uc002qmd.3 + NM_134444 NP_604393 PXDN 7837 broad.mit.edu 37 2 1714522 1714522 + Intron SNP C T T 2012-699:2012-1304-T g.chr2:1714522C>T uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 RMND5A 64795 broad.mit.edu 37 2 87644456 87644456 + Intron SNP G A A 2012-699:2012-1304-T g.chr2:87644456G>A uc002srs.3 + CLASP1 23332 broad.mit.edu 37 2 122368822 122368822 + Intron SNP C A A 2012-699:2012-1304-T g.chr2:122368822C>A uc002tnc.2 - CLASP1_uc010yyz.1_Intron|CLASP1_uc010yza.1_Intron|CLASP1_uc010yzb.1_Intron|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tng.1_Intron NM_015282 NP_056097 LRP1B 53353 broad.mit.edu 37 2 141739753 141739753 + Nonsense_Mutation SNP G A A 2012-699:2012-1304-T g.chr2:141739753G>A uc002tvj.1 - 18 3835 c.2863C>T c.(2863-2865)CAG>TAG p.Q955* LRP1B_uc010fnl.1_Nonsense_Mutation_p.Q137* NM_018557 NP_061027 AGAP1 116987 broad.mit.edu 37 2 236473308 236473308 + Intron SNP C T T rs71064857 2012-699:2012-1304-T g.chr2:236473308C>T uc002vvs.2 + AGAP1_uc002vvt.2_Intron NM_001037131 NP_001032208 MYH7B 57644 broad.mit.edu 37 20 33583254 33583254 + Missense_Mutation SNP T G G 2012-699:2012-1304-T g.chr20:33583254T>G uc002xbi.1 + 26 3034 c.2942T>G c.(2941-2943)GTG>GGG p.V981G NM_020884 NP_065935 MYT1 4661 broad.mit.edu 37 20 62866379 62866379 + Intron SNP T C C 2012-699:2012-1304-T g.chr20:62866379T>C uc002yii.2 + MYT1_uc002yij.2_Intron NM_004535 NP_004526 C21orf56 84221 broad.mit.edu 37 21 47590321 47590321 + Intron SNP G T T 2012-699:2012-1304-T g.chr21:47590321G>T uc011afu.1 - C21orf56_uc002zii.2_Intron NM_001142854 NP_001136326 MICAL3 57553 broad.mit.edu 37 22 18359825 18359825 + Intron SNP G A A 2012-699:2012-1304-T g.chr22:18359825G>A uc002zng.3 - MICAL3_uc011agl.1_Intron|MICAL3_uc002znh.2_Intron|MICAL3_uc002znj.1_Intron|MICAL3_uc002znk.1_Intron|MICAL3_uc002znl.1_Intron|MICAL3_uc002znm.2_Intron|MICAL3_uc010grf.2_Intron NM_015241 NP_056056 PHF21B 112885 broad.mit.edu 37 22 45280198 45280198 + Intron SNP C G G 2012-699:2012-1304-T g.chr22:45280198C>G uc003bfn.2 - PHF21B_uc003bfm.2_Intron|PHF21B_uc011aqk.1_Intron|PHF21B_uc011aql.1_Intron NM_138415 NP_612424 RAF1 5894 broad.mit.edu 37 3 12626582 12626582 + Intron SNP T C C 2012-699:2012-1304-T g.chr3:12626582T>C uc003bxf.3 - RAF1_uc011aut.1_Intron|RAF1_uc011auu.1_Intron NM_002880 NP_002871 CHCHD6 84303 broad.mit.edu 37 3 126581148 126581148 + Intron SNP T C C 2012-699:2012-1304-T g.chr3:126581148T>C uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 CHCHD6 84303 broad.mit.edu 37 3 126582300 126582300 + Intron SNP T C C 2012-699:2012-1304-T g.chr3:126582300T>C uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 RNF212 285498 broad.mit.edu 37 4 1072920 1072920 + Intron SNP A G G rs113125575 2012-699:2012-1304-T g.chr4:1072920A>G uc003gcj.2 - RNF212_uc003gch.2_Intron|RNF212_uc003gci.2_Intron|RNF212_uc010ibp.2_Intron|RNF212_uc010ibq.2_Intron NM_001131034 NP_001124506 NOP14 8602 broad.mit.edu 37 4 2947776 2947776 + Intron SNP T G G 2012-699:2012-1304-T g.chr4:2947776T>G uc003ggj.1 - C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggk.3_Intron|NOP14_uc003ggl.2_Intron NM_003703 NP_003694 SORBS2 8470 broad.mit.edu 37 4 186717994 186717994 + Intron SNP G A A 2012-699:2012-1304-T g.chr4:186717994G>A uc003iyl.2 - SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Intron|SORBS2_uc011cky.1_Intron|SORBS2_uc003iyp.2_Intron NM_021069 NP_066547 NRG2 9542 broad.mit.edu 37 5 139422604 139422604 + Silent SNP A C C 2012-699:2012-1304-T g.chr5:139422604A>C uc003lex.1 - 1 276 c.51T>G c.(49-51)GGT>GGG p.G17G NRG2_uc003lev.1_Silent_p.G17G|NRG2_uc003lew.1_Silent_p.G17G|NRG2_uc003ley.1_Silent_p.G17G NM_004883 NP_004874 BTNL9 153579 broad.mit.edu 37 5 180473217 180473217 + Intron SNP C T T 2012-699:2012-1304-T g.chr5:180473217C>T uc003mmt.2 + BTNL9_uc011dhi.1_Intron NM_152547 NP_689760 HIST1H4E 8367 broad.mit.edu 37 6 26204939 26204939 + Silent SNP C T T 2012-699:2012-1304-T g.chr6:26204939C>T uc003ngy.2 + 1 67 c.67C>T c.(67-69)CTG>TTG p.L23L NM_003545 NP_003536 C7orf50 84310 broad.mit.edu 37 7 1056524 1056524 + Intron SNP A G G rs112815438 by1000genomes 2012-699:2012-1304-T g.chr7:1056524A>G uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 CARD11 84433 broad.mit.edu 37 7 2976910 2976910 + Intron SNP A C C 2012-699:2012-1304-T g.chr7:2976910A>C uc003smv.2 - NM_032415 NP_115791 EIF2AK1 27102 broad.mit.edu 37 7 6098972 6098972 + 5'Flank SNP T G G 2012-699:2012-1304-T g.chr7:6098972T>G uc003spp.2 - EIF2AK1_uc003spq.2_5'Flank|EIF2AK1_uc011jwm.1_5'Flank NM_014413 NP_055228 PTPRN2 5799 broad.mit.edu 37 7 157392789 157392789 + Intron SNP C A A 2012-699:2012-1304-T g.chr7:157392789C>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157392797 157392797 + Intron SNP C A A 2012-699:2012-1304-T g.chr7:157392797C>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ZFP41 286128 broad.mit.edu 37 8 144342202 144342202 + 3'UTR SNP G C C 2012-699:2012-1304-T g.chr8:144342202G>C uc003yxw.2 + 3 ZFP41_uc003yxv.2_Intron NM_173832 NP_776193 GSDMD 79792 broad.mit.edu 37 8 144639487 144639487 + Intron SNP G A A 2012-699:2012-1304-T g.chr8:144639487G>A uc010mfe.2 + uc003yye.2_RNA|GSDMD_uc003yyf.2_5'Flank|GSDMD_uc003yyi.2_5'Flank|GSDMD_uc003yyg.2_5'Flank|GSDMD_uc003yyh.2_5'Flank NM_024736 NP_079012 ARHGAP39 80728 broad.mit.edu 37 8 145913244 145913244 + 5'Flank SNP T C C 2012-699:2012-1304-T g.chr8:145913244T>C uc011llk.1 - NM_025251 NP_079527 ADAMTSL1 92949 broad.mit.edu 37 9 18639427 18639427 + Intron SNP A C C 2012-699:2012-1304-T g.chr9:18639427A>C uc003zne.3 + ADAMTSL1_uc003znb.2_Intron|ADAMTSL1_uc003znc.3_Intron NM_001040272 NP_001035362 PBX3 5090 broad.mit.edu 37 9 128678194 128678194 + Silent SNP G A A 2012-699:2012-1304-T g.chr9:128678194G>A uc004bqb.2 + 3 620 c.504G>A c.(502-504)GAG>GAA p.E168E PBX3_uc004bqc.2_Intron|PBX3_uc004bqd.2_Intron|PBX3_uc011lzw.1_Silent_p.E93E|PBX3_uc011lzx.1_Silent_p.E79E|PBX3_uc004bqe.2_Silent_p.E55E NM_006195 NP_006186 POMT1 10585 broad.mit.edu 37 9 134391432 134391432 + Intron SNP G A A rs35076804 2012-699:2012-1304-T g.chr9:134391432G>A uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 NACC2 138151 broad.mit.edu 37 9 138916159 138916159 + Intron SNP T G G rs72177091 2012-699:2012-1304-T g.chr9:138916159T>G uc004cgw.2 - NACC2_uc010nbh.2_Intron NM_144653 NP_653254 KIF1B 23095 broad.mit.edu 37 1 10292552 10292552 + Intron SNP C T T 2012-701:2012-1307-T g.chr1:10292552C>T uc001aqx.3 + KIF1B_uc001aqv.3_Intron|KIF1B_uc001aqw.3_Intron|KIF1B_uc001aqy.2_Intron|KIF1B_uc001aqz.2_Intron|KIF1B_uc001ara.2_Intron|KIF1B_uc001arb.2_Intron|KIF1B_uc009vmt.2_Intron NM_015074 NP_055889 IGSF21 84966 broad.mit.edu 37 1 18690265 18690265 + Intron SNP A G G 2012-701:2012-1307-T g.chr1:18690265A>G uc001bau.1 + IGSF21_uc001bav.1_Intron NM_032880 NP_116269 MACF1 23499 broad.mit.edu 37 1 39798573 39798573 + Missense_Mutation SNP G T T 2012-701:2012-1307-T g.chr1:39798573G>T uc010oiu.1 + 1 1764 c.1633G>T c.(1633-1635)GTA>TTA p.V545L MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 C1orf173 127254 broad.mit.edu 37 1 75038087 75038087 + Missense_Mutation SNP C T T 2012-701:2012-1307-T g.chr1:75038087C>T uc001dgg.2 - 14 3526 c.3307G>A c.(3307-3309)GGG>AGG p.G1103R NM_001002912 NP_001002912 WDR63 126820 broad.mit.edu 37 1 85550286 85550286 + Missense_Mutation SNP T C C 2012-701:2012-1307-T g.chr1:85550286T>C uc001dkt.2 + 6 639 c.448T>C c.(448-450)TAT>CAT p.Y150H WDR63_uc009wcl.2_Missense_Mutation_p.Y150H NM_145172 NP_660155 SPTA1 6708 broad.mit.edu 37 1 158596535 158596535 + Intron SNP T G G 2012-701:2012-1307-T g.chr1:158596535T>G uc001fst.1 - NM_003126 NP_003117 SMYD3 64754 broad.mit.edu 37 1 246139415 246139415 + Intron SNP A G G 2012-701:2012-1307-T g.chr1:246139415A>G uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 CUBN 8029 broad.mit.edu 37 10 16882924 16882924 + Silent SNP T C C 2012-701:2012-1307-T g.chr10:16882924T>C uc001ioo.2 - 61 9838 c.9786A>G c.(9784-9786)TTA>TTG p.L3262L NM_001081 NP_001072 CCDC6 8030 broad.mit.edu 37 10 61641831 61641831 + Intron SNP G C C 2012-701:2012-1307-T g.chr10:61641831G>C uc001jks.3 - NM_005436 NP_005427 ELP4 26610 broad.mit.edu 37 11 31648611 31648611 + Intron SNP A C C 2012-701:2012-1307-T g.chr11:31648611A>C uc001mtb.2 + ELP4_uc001mta.1_Intron|ELP4_uc001mtc.2_Intron|ELP4_uc010rdz.1_Intron NM_019040 NP_061913 B4GALNT3 283358 broad.mit.edu 37 12 621310 621310 + Intron SNP A G G rs143536331 2012-701:2012-1307-T g.chr12:621310A>G uc001qii.1 + NM_173593 NP_775864 EPS8 2059 broad.mit.edu 37 12 15942988 15942988 + 5'Flank SNP A C C 2012-701:2012-1307-T g.chr12:15942988A>C uc001rdb.2 - EPS8_uc009zig.2_5'Flank NM_004447 NP_004438 SLC2A13 114134 broad.mit.edu 37 12 40265626 40265626 + Missense_Mutation SNP C G G 2012-701:2012-1307-T g.chr12:40265626C>G uc010skm.1 - 5 1223 c.1172G>C c.(1171-1173)AGA>ACA p.R391T C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Missense_Mutation_p.R38T NM_052885 NP_443117 RB1 5925 broad.mit.edu 37 13 48877719 48877719 + 5'Flank SNP C T T 2012-701:2012-1307-T g.chr13:48877719C>T uc001vcb.2 + RB1_uc010acs.1_5'Flank|uc001vca.2_RNA NM_000321 NP_000312 PCDH17 27253 broad.mit.edu 37 13 58206592 58206592 + 5'UTR SNP G A A 2012-701:2012-1307-T g.chr13:58206592G>A uc001vhq.1 + 1 PCDH17_uc010aec.1_5'UTR NM_001040429 NP_001035519 TFDP1 7027 broad.mit.edu 37 13 114280364 114280364 + Intron SNP T C C 2012-701:2012-1307-T g.chr13:114280364T>C uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 TRIP11 9321 broad.mit.edu 37 14 92469561 92469561 + Intron SNP C A A 2012-701:2012-1307-T g.chr14:92469561C>A uc001xzy.2 - TRIP11_uc010auf.1_Intron NM_004239 NP_004230 GABRB3 2562 broad.mit.edu 37 15 26866443 26866443 + Intron SNP C T T 2012-701:2012-1307-T g.chr15:26866443C>T uc001zaz.2 - GABRB3_uc010uae.1_Intron|GABRB3_uc001zba.2_Intron|GABRB3_uc001zbb.2_Intron|GABRB3_uc001zbc.2_Intron NM_000814 NP_000805 LMF1 64788 broad.mit.edu 37 16 1003530 1003530 + Intron SNP T C C 2012-701:2012-1307-T g.chr16:1003530T>C uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 C1QTNF8 390664 broad.mit.edu 37 16 1142977 1142977 + Intron SNP C G G 2012-701:2012-1307-T g.chr16:1142977C>G uc010uuw.1 - NM_207419 NP_997302 RPH3AL 9501 broad.mit.edu 37 17 137330 137330 + Intron SNP G A A 2012-701:2012-1307-T g.chr17:137330G>A uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 MYH13 8735 broad.mit.edu 37 17 10212892 10212892 + Missense_Mutation SNP G A A 2012-701:2012-1307-T g.chr17:10212892G>A uc002gmk.1 - 34 5002 c.4912C>T c.(4912-4914)CGC>TGC p.R1638C NM_003802 NP_003793 RPTOR 57521 broad.mit.edu 37 17 78814173 78814173 + Intron SNP A G G rs148700666 by1000genomes 2012-701:2012-1307-T g.chr17:78814173A>G uc002jyt.1 + RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 SLC16A3 9123 broad.mit.edu 37 17 80185458 80185458 + 5'Flank SNP T G G rs144355328 by1000genomes 2012-701:2012-1307-T g.chr17:80185458T>G uc002kea.2 + SLC16A3_uc002keb.2_5'Flank NM_001042422 NP_001035887 ZNF69 7620 broad.mit.edu 37 19 12022858 12022858 + Intron SNP G T T 2012-701:2012-1307-T g.chr19:12022858G>T uc002mst.3 + NM_021915 NP_068734 NTN5 126147 broad.mit.edu 37 19 49172622 49172622 + Intron SNP A G G 2012-701:2012-1307-T g.chr19:49172622A>G uc002pkb.2 - SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|NTN5_uc002pkc.2_Intron NM_145807 NP_665806 SHANK1 50944 broad.mit.edu 37 19 51203269 51203269 + Intron SNP A G G 2012-701:2012-1307-T g.chr19:51203269A>G uc002psx.1 - NM_016148 NP_057232 NLRP4 147945 broad.mit.edu 37 19 56362328 56362328 + Intron SNP G T T 2012-701:2012-1307-T g.chr19:56362328G>T uc002qmd.3 + NM_134444 NP_604393 SNTG2 54221 broad.mit.edu 37 2 1112293 1112293 + Intron SNP C A A 2012-701:2012-1307-T g.chr2:1112293C>A uc002qwq.2 + SNTG2_uc002qwp.2_Intron|SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 TPO 7173 broad.mit.edu 37 2 1521328 1521328 + Intron SNP T A A 2012-701:2012-1307-T g.chr2:1521328T>A uc002qww.2 + TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Intron|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron NM_000547 NP_000538 PXDN 7837 broad.mit.edu 37 2 1708291 1708291 + Intron SNP G A A 2012-701:2012-1307-T g.chr2:1708291G>A uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 MYT1L 23040 broad.mit.edu 37 2 1801659 1801659 + Intron SNP C T T 2012-701:2012-1307-T g.chr2:1801659C>T uc002qxe.2 - MYT1L_uc002qxd.2_Intron|MYT1L_uc010ewk.2_Intron NM_015025 NP_055840 LRRTM1 347730 broad.mit.edu 37 2 80529399 80529399 + Missense_Mutation SNP G A A 2012-701:2012-1307-T g.chr2:80529399G>A uc002sok.1 - 2 1816 c.1546C>T c.(1546-1548)CCC>TCC p.P516S CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 RMND5A 64795 broad.mit.edu 37 2 87642929 87642929 + Intron SNP C G G 2012-701:2012-1307-T g.chr2:87642929C>G uc002srs.3 + LRP1B 53353 broad.mit.edu 37 2 141115773 141115773 + Intron SNP A G G 2012-701:2012-1307-T g.chr2:141115773A>G uc002tvj.1 - NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141232983 141232983 + Intron SNP G C C 2012-701:2012-1307-T g.chr2:141232983G>C uc002tvj.1 - NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141474079 141474079 + Intron SNP G T T 2012-701:2012-1307-T g.chr2:141474079G>T uc002tvj.1 - NM_018557 NP_061027 ZEB2 9839 broad.mit.edu 37 2 145155754 145155754 + Intron SNP A T T 2012-701:2012-1307-T g.chr2:145155754A>T uc002tvu.2 - ZEB2_uc002tvv.2_Intron|ZEB2_uc010zbm.1_Intron|ZEB2_uc010fnp.2_Intron NM_014795 NP_055610 NFE2L2 4780 broad.mit.edu 37 2 178128533 178128533 + Intron SNP G A A 2012-701:2012-1307-T g.chr2:178128533G>A uc002ulh.3 - NFE2L2_uc002ulg.3_5'UTR|NFE2L2_uc010zfa.1_5'UTR|NFE2L2_uc002uli.3_Intron|NFE2L2_uc010fra.2_5'UTR|NFE2L2_uc010frb.2_5'UTR NM_006164 NP_006155 TTN 7273 broad.mit.edu 37 2 179584140 179584140 + Missense_Mutation SNP C A A 2012-701:2012-1307-T g.chr2:179584140C>A uc010zfg.1 - 80 20469 c.20245G>T c.(20245-20247)GAC>TAC p.D6749Y TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D3410Y NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179665210 179665210 + Silent SNP T C C 2012-701:2012-1307-T g.chr2:179665210T>C uc002und.2 - 4 720 c.495A>G c.(493-495)GAA>GAG p.E165E TTN_uc010zfg.1_Silent_p.E165E|TTN_uc010zfh.1_Silent_p.E165E|TTN_uc010zfi.1_Silent_p.E165E|TTN_uc010zfj.1_Silent_p.E165E|TTN_uc002unb.2_Silent_p.E165E MLPH 79083 broad.mit.edu 37 2 238451597 238451597 + Intron SNP G A A 2012-701:2012-1307-T g.chr2:238451597G>A uc002vwt.2 + MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Intron|MLPH_uc002vwu.2_Intron|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Intron|MLPH_uc010fyu.2_Intron NM_024101 NP_077006 KCNQ2 3785 broad.mit.edu 37 20 62093662 62093663 + Intron DNP TG CT CT 2012-701:2012-1307-T g.chr20:62093662_62093663TG>CT uc002yey.1 - KCNQ2_uc002yez.1_Intron|KCNQ2_uc002yfa.1_Intron|KCNQ2_uc002yfb.1_Intron|KCNQ2_uc011aax.1_Intron|KCNQ2_uc002yfc.1_Intron NM_172107 NP_742105 BAGE2 85319 broad.mit.edu 37 21 11039299 11039299 + 3'UTR SNP T A A 2012-701:2012-1307-T g.chr21:11039299T>A uc002yit.1 - 6 TPTE_uc002yis.1_RNA NM_182482 NP_872288 BAGE2 85319 broad.mit.edu 37 21 11085658 11085658 + Intron SNP C T T rs144000767 by1000genomes 2012-701:2012-1307-T g.chr21:11085658C>T uc002yit.1 - BAGE_uc002yix.2_Intron NM_182482 NP_872288 BAGE2 85319 broad.mit.edu 37 21 11098564 11098564 + Intron SNP G A A 2012-701:2012-1307-T g.chr21:11098564G>A uc002yit.1 - BAGE_uc002yix.2_Intron NM_182482 NP_872288 CELSR3 1951 broad.mit.edu 37 3 48685819 48685819 + Missense_Mutation SNP G T T 2012-701:2012-1307-T g.chr3:48685819G>T uc003cul.2 - 19 7134 c.6853C>A c.(6853-6855)CCT>ACT p.P2285T CELSR3_uc003cuf.1_Missense_Mutation_p.P2355T|CELSR3_uc010hkg.2_Missense_Mutation_p.P268T NM_001407 NP_001398 PBRM1 55193 broad.mit.edu 37 3 52643790 52643790 + Silent SNP C T T 2012-701:2012-1307-T g.chr3:52643790C>T uc003des.2 - 16 2118 c.2106G>A c.(2104-2106)AAG>AAA p.K702K PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Silent_p.K702K|PBRM1_uc003der.2_Silent_p.K670K|PBRM1_uc003det.2_Silent_p.K717K|PBRM1_uc003deu.2_Silent_p.K717K|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.K702K|PBRM1_uc010hmk.1_Silent_p.K702K|PBRM1_uc003dey.2_Silent_p.K702K|PBRM1_uc003dez.1_Silent_p.K702K|PBRM1_uc003dfb.1_Silent_p.K615K|PBRM1_uc003dfa.1_Silent_p.K48K|PBRM1_uc003dfc.2_Silent_p.K69K NM_181042 NP_060635 ROBO2 6092 broad.mit.edu 37 3 77459676 77459676 + Intron SNP C T T 2012-701:2012-1307-T g.chr3:77459676C>T uc003dpy.3 + ROBO2_uc003dpz.2_Intron|ROBO2_uc011bgj.1_Intron|ROBO2_uc011bgk.1_Intron NM_002942 NP_002933 CHCHD6 84303 broad.mit.edu 37 3 126582025 126582025 + Intron SNP C T T 2012-701:2012-1307-T g.chr3:126582025C>T uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 ETV5 2119 broad.mit.edu 37 3 185827253 185827253 + 5'Flank SNP A G G 2012-701:2012-1307-T g.chr3:185827253A>G uc003fpz.2 - ETV5_uc003fpy.2_5'Flank NM_004454 NP_004445 C3orf21 152002 broad.mit.edu 37 3 194824172 194824172 + Intron SNP A G G rs62290289 by1000genomes 2012-701:2012-1307-T g.chr3:194824172A>G uc003fum.3 - C3orf21_uc003ful.2_Intron|C3orf21_uc003fuk.2_Intron NM_152531 NP_689744 GUF1 60558 broad.mit.edu 37 4 44680107 44680107 + 5'Flank SNP T G G 2012-701:2012-1307-T g.chr4:44680107T>G uc003gww.3 + GUF1_uc010ifz.1_5'Flank NM_021927 NP_068746 REST 5978 broad.mit.edu 37 4 57775490 57775490 + Intron SNP T G G 2012-701:2012-1307-T g.chr4:57775490T>G uc003hch.2 + REST_uc003hci.2_Intron|REST_uc003hcj.1_5'Flank|REST_uc010ihf.2_5'Flank NM_005612 NP_005603 INPP4B 8821 broad.mit.edu 37 4 143044513 143044513 + Missense_Mutation SNP G T T 2012-701:2012-1307-T g.chr4:143044513G>T uc003iix.3 - 21 2544 c.1949C>A c.(1948-1950)CCA>CAA p.P650Q INPP4B_uc003iiw.3_Missense_Mutation_p.P650Q|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.P465Q|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.P521Q NM_003866 NP_003857 INPP4B 8821 broad.mit.edu 37 4 143094841 143094841 + Missense_Mutation SNP C A A 2012-701:2012-1307-T g.chr4:143094841C>A uc003iix.3 - 17 1898 c.1303G>T c.(1303-1305)GCA>TCA p.A435S INPP4B_uc003iiw.3_Missense_Mutation_p.A435S|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.A250S|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.A306S NM_003866 NP_003857 FSTL5 56884 broad.mit.edu 37 4 162463800 162463800 + Missense_Mutation SNP G T T 2012-701:2012-1307-T g.chr4:162463800G>T uc003iqh.2 - 9 1497 c.1061C>A c.(1060-1062)CCT>CAT p.P354H FSTL5_uc003iqi.2_Missense_Mutation_p.P353H|FSTL5_uc010iqv.2_Missense_Mutation_p.P353H NM_020116 NP_064501 FSTL5 56884 broad.mit.edu 37 4 162841782 162841782 + Silent SNP A G G 2012-701:2012-1307-T g.chr4:162841782A>G uc003iqh.2 - 4 619 c.183T>C c.(181-183)CCT>CCC p.P61P FSTL5_uc003iqi.2_Silent_p.P60P|FSTL5_uc010iqv.2_Silent_p.P60P NM_020116 NP_064501 FAT1 2195 broad.mit.edu 37 4 187540368 187540368 + Nonsense_Mutation SNP T A A 2012-701:2012-1307-T g.chr4:187540368T>A uc003izf.2 - 10 7560 c.7372A>T c.(7372-7374)AAG>TAG p.K2458* NM_005245 NP_005236 SLC9A3 6550 broad.mit.edu 37 5 487119 487119 + Intron SNP T A A 2012-701:2012-1307-T g.chr5:487119T>A uc003jbe.2 - SLC9A3_uc011clx.1_Intron NM_004174 NP_004165 NKD2 85409 broad.mit.edu 37 5 1026153 1026153 + Intron SNP C T T 2012-701:2012-1307-T g.chr5:1026153C>T uc003jbt.1 + NKD2_uc010itf.1_Intron NM_033120 NP_149111 DNAH5 1767 broad.mit.edu 37 5 13824236 13824236 + Intron SNP G A A 2012-701:2012-1307-T g.chr5:13824236G>A uc003jfd.2 - NM_001369 NP_001360 TRIO 7204 broad.mit.edu 37 5 14403473 14403473 + Intron SNP G A A 2012-701:2012-1307-T g.chr5:14403473G>A uc003jff.2 + TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Intron NM_007118 NP_009049 ADAMTS12 81792 broad.mit.edu 37 5 33637726 33637726 + Missense_Mutation SNP G T T 2012-701:2012-1307-T g.chr5:33637726G>T uc003jia.1 - 12 2007 c.1844C>A c.(1843-1845)CCC>CAC p.P615H ADAMTS12_uc010iuq.1_Missense_Mutation_p.P615H NM_030955 NP_112217 PCDHAC2 56134 broad.mit.edu 37 5 140389296 140389296 + Missense_Mutation SNP C A A 2012-701:2012-1307-T g.chr5:140389296C>A uc003lii.2 + 4 3038 c.2798C>A c.(2797-2799)CCC>CAC p.P933H PCDHA1_uc003lha.2_Missense_Mutation_p.P612H|PCDHA1_uc003lhb.2_Missense_Mutation_p.P876H|PCDHA2_uc003lhd.2_Missense_Mutation_p.P874H|PCDHA3_uc003lhf.2_Missense_Mutation_p.P876H|PCDHA4_uc003lhi.2_Missense_Mutation_p.P873H|PCDHA4_uc003lhh.1_Missense_Mutation_p.P873H|PCDHA5_uc003lhk.1_Missense_Mutation_p.P862H|PCDHA5_uc003lhl.2_Missense_Mutation_p.P862H|PCDHA6_uc003lhn.2_Missense_Mutation_p.P612H|PCDHA6_uc003lho.2_Missense_Mutation_p.P876H|PCDHA7_uc003lhq.2_Missense_Mutation_p.P863H|PCDHA8_uc003lhs.2_Missense_Mutation_p.P876H|PCDHA9_uc003lhu.2_Missense_Mutation_p.P876H|PCDHA10_uc003lhw.2_Missense_Mutation_p.P611H|PCDHA10_uc003lhx.2_Missense_Mutation_p.P874H|PCDHA11_uc003lia.2_Missense_Mutation_p.P875H|PCDHA12_uc003lic.2_Missense_Mutation_p.P867H|PCDHA13_uc003lie.1_Missense_Mutation_p.P876H|PCDHA13_uc003lif.2_Missense_Mutation_p.P876H|PCDHAC1_uc003lih.2_Missense_Mutation_p.P889H NM_018899 NP_061722 ROS1 6098 broad.mit.edu 37 6 117665419 117665419 + Missense_Mutation SNP G A A rs145528392 2012-701:2012-1307-T g.chr6:117665419G>A uc003pxp.1 - 27 4527 c.4328C>T c.(4327-4329)GCG>GTG p.A1443V ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 ROS1 6098 broad.mit.edu 37 6 117725581 117725581 + Silent SNP G A A 2012-701:2012-1307-T g.chr6:117725581G>A uc003pxp.1 - 5 499 c.300C>T c.(298-300)GAC>GAT p.D100D ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 SYNE1 23345 broad.mit.edu 37 6 152443966 152443966 + Intron SNP C A A 2012-701:2012-1307-T g.chr6:152443966C>A uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qop.3_Intron|SYNE1_uc011eez.1_Intron|SYNE1_uc003qoq.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152536093 152536093 + Missense_Mutation SNP T A A 2012-701:2012-1307-T g.chr6:152536093T>A uc010kiw.2 - 122 22896 c.22294A>T c.(22294-22296)AAT>TAT p.N7432Y SYNE1_uc010kiv.2_Missense_Mutation_p.N1956Y|SYNE1_uc003qos.3_Missense_Mutation_p.N1956Y|SYNE1_uc003qot.3_Missense_Mutation_p.N7361Y|SYNE1_uc003qou.3_Missense_Mutation_p.N7432Y|SYNE1_uc003qor.3_Missense_Mutation_p.N332Y NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152647820 152647820 + Intron SNP C T T 2012-701:2012-1307-T g.chr6:152647820C>T uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kiz.2_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152746417 152746417 + Intron SNP A T T 2012-701:2012-1307-T g.chr6:152746417A>T uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron NM_182961 NP_892006 PRKAR1B 5575 broad.mit.edu 37 7 628243 628243 + Intron SNP G A A 2012-701:2012-1307-T g.chr7:628243G>A uc003siu.1 - PRKAR1B_uc003siv.2_Intron|PRKAR1B_uc003siw.1_Intron|PRKAR1B_uc003six.1_Intron NM_002735 NP_002726 THSD7A 221981 broad.mit.edu 37 7 11485903 11485903 + Missense_Mutation SNP A C C 2012-701:2012-1307-T g.chr7:11485903A>C uc003ssf.3 - 13 3101 c.2849T>G c.(2848-2850)CTG>CGG p.L950R NM_015204 NP_056019 WBSCR17 64409 broad.mit.edu 37 7 70885988 70885988 + Silent SNP C A A 2012-701:2012-1307-T g.chr7:70885988C>A uc003tvy.2 + 5 859 c.859C>A c.(859-861)CGG>AGG p.R287R WBSCR17_uc003tvz.2_5'UTR NM_022479 NP_071924 PCLO 27445 broad.mit.edu 37 7 82545347 82545347 + Silent SNP G C C 2012-701:2012-1307-T g.chr7:82545347G>C uc003uhx.2 - 7 12244 c.11955C>G c.(11953-11955)CCC>CCG p.P3985P PCLO_uc003uhv.2_Silent_p.P3985P|PCLO_uc010lec.2_Silent_p.P950P NM_033026 NP_149015 PCLO 27445 broad.mit.edu 37 7 82579333 82579333 + Missense_Mutation SNP A G G 2012-701:2012-1307-T g.chr7:82579333A>G uc003uhx.2 - 6 10860 c.10571T>C c.(10570-10572)ATA>ACA p.I3524T PCLO_uc003uhv.2_Missense_Mutation_p.I3524T|PCLO_uc010lec.2_Missense_Mutation_p.I489T NM_033026 NP_149015 PCLO 27445 broad.mit.edu 37 7 82792281 82792281 + 5'Flank SNP T C C 2012-701:2012-1307-T g.chr7:82792281T>C uc003uhx.2 - PCLO_uc003uhv.2_5'Flank NM_033026 NP_149015 PIK3CG 5294 broad.mit.edu 37 7 106508882 106508882 + Nonsense_Mutation SNP G A A 2012-701:2012-1307-T g.chr7:106508882G>A uc003vdv.3 + 2 961 c.876G>A c.(874-876)TGG>TGA p.W292* PIK3CG_uc003vdu.2_Nonsense_Mutation_p.W292*|PIK3CG_uc003vdw.2_Nonsense_Mutation_p.W292* NM_002649 NP_002640 GRM8 2918 broad.mit.edu 37 7 126410081 126410081 + Missense_Mutation SNP C G G 2012-701:2012-1307-T g.chr7:126410081C>G uc003vlr.2 - 6 1506 c.1195G>C c.(1195-1197)GAA>CAA p.E399Q GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.E399Q|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.E120Q NM_000845 NP_000836 CNTNAP2 26047 broad.mit.edu 37 7 146818010 146818011 + Intron DNP TG CT CT 2012-701:2012-1307-T g.chr7:146818010_146818011TG>CT uc003weu.1 + NM_014141 NP_054860 CNTNAP2 26047 broad.mit.edu 37 7 147674892 147674892 + Intron SNP C T T 2012-701:2012-1307-T g.chr7:147674892C>T uc003weu.1 + NM_014141 NP_054860 PTPRN2 5799 broad.mit.edu 37 7 157526605 157526605 + Intron SNP T C C 2012-701:2012-1307-T g.chr7:157526605T>C uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157941492 157941492 + Intron SNP G A A 2012-701:2012-1307-T g.chr7:157941492G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 NKAIN3 286183 broad.mit.edu 37 8 63769269 63769269 + Intron SNP T A A 2012-701:2012-1307-T g.chr8:63769269T>A uc010lyq.1 + NM_173688 NP_775959 SLCO5A1 81796 broad.mit.edu 37 8 70744483 70744483 + Silent SNP C T T 2012-701:2012-1307-T g.chr8:70744483C>T uc003xyl.2 - 2 1133 c.426G>A c.(424-426)GCG>GCA p.A142A SLCO5A1_uc010lzb.2_Silent_p.A142A|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.A142A|SLCO5A1_uc010lzc.2_Silent_p.A142A NM_030958 NP_112220 SLCO5A1 81796 broad.mit.edu 37 8 70747134 70747134 + 5'UTR SNP A G G 2012-701:2012-1307-T g.chr8:70747134A>G uc003xyl.2 - 1 SLCO5A1_uc010lzb.2_5'Flank|SLCO5A1_uc011lfa.1_5'Flank|SLCO5A1_uc003xyk.2_5'Flank|SLCO5A1_uc010lzc.2_5'Flank NM_030958 NP_112220 CSMD3 114788 broad.mit.edu 37 8 113267546 113267546 + Nonsense_Mutation SNP C A A 2012-701:2012-1307-T g.chr8:113267546C>A uc003ynu.2 - 62 10132 c.9973G>T c.(9973-9975)GGA>TGA p.G3325* CSMD3_uc003yns.2_Nonsense_Mutation_p.G2527*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G3285*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G3156* NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113563248 113563248 + Intron SNP T C C 2012-701:2012-1307-T g.chr8:113563248T>C uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113662631 113662631 + Intron SNP G T T 2012-701:2012-1307-T g.chr8:113662631G>T uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 ENPP2 5168 broad.mit.edu 37 8 120569830 120569830 + Missense_Mutation SNP C G G 2012-701:2012-1307-T g.chr8:120569830C>G uc003yot.1 - 25 2609 c.2523G>C c.(2521-2523)AAG>AAC p.K841N ENPP2_uc011lic.1_Missense_Mutation_p.K379N|ENPP2_uc003yor.1_Missense_Mutation_p.K476N|ENPP2_uc003yos.1_Missense_Mutation_p.K893N|ENPP2_uc010mdd.1_Missense_Mutation_p.K866N NM_001040092 NP_001035181 FAM135B 51059 broad.mit.edu 37 8 139155451 139155451 + Intron SNP T A A 2012-701:2012-1307-T g.chr8:139155451T>A uc003yuy.2 - FAM135B_uc003yux.2_Intron|FAM135B_uc003yuz.2_Intron|FAM135B_uc003yva.2_Intron|FAM135B_uc003yvb.2_Intron NM_015912 NP_056996 FAM135B 51059 broad.mit.edu 37 8 139164103 139164103 + Missense_Mutation SNP C A A 2012-701:2012-1307-T g.chr8:139164103C>A uc003yuy.2 - 13 2786 c.2615G>T c.(2614-2616)GGT>GTT p.G872V FAM135B_uc003yux.2_Missense_Mutation_p.G773V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G434V|FAM135B_uc003yvb.2_Missense_Mutation_p.G434V NM_015912 NP_056996 FAM135B 51059 broad.mit.edu 37 8 139164940 139164940 + Missense_Mutation SNP C A A 2012-701:2012-1307-T g.chr8:139164940C>A uc003yuy.2 - 13 1949 c.1778G>T c.(1777-1779)AGC>ATC p.S593I FAM135B_uc003yux.2_Missense_Mutation_p.S494I|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.S155I|FAM135B_uc003yvb.2_Missense_Mutation_p.S155I NM_015912 NP_056996 COL22A1 169044 broad.mit.edu 37 8 139609092 139609092 + Intron SNP A T T 2012-701:2012-1307-T g.chr8:139609092A>T uc003yvd.2 - COL22A1_uc011ljo.1_Intron NM_152888 NP_690848 COL22A1 169044 broad.mit.edu 37 8 139691878 139691878 + Silent SNP C G G 2012-701:2012-1307-T g.chr8:139691878C>G uc003yvd.2 - 40 3501 c.3054G>C c.(3052-3054)CTG>CTC p.L1018L COL22A1_uc011ljo.1_Intron NM_152888 NP_690848 OBP2A 29991 broad.mit.edu 37 9 138440898 138440898 + Intron SNP C T T 2012-701:2012-1307-T g.chr9:138440898C>T uc004cgb.2 + OBP2A_uc004cgc.2_Intron|OBP2A_uc010nau.2_Intron|OBP2A_uc010nav.2_Intron NM_014582 NP_055397 HEPH 9843 broad.mit.edu 37 X 65390505 65390505 + Silent SNP C A A 2012-701:2012-1307-T g.chrX:65390505C>A uc011moz.1 + 2 162 c.102C>A c.(100-102)GGC>GGA p.G34G HEPH_uc004dwn.2_Silent_p.G34G|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Silent_p.G34G|HEPH_uc011mpa.1_Silent_p.G34G NM_138737 NP_620074 GPR174 84636 broad.mit.edu 37 X 78426104 78426104 + 5'Flank SNP C A A 2012-701:2012-1307-T g.chrX:78426104C>A uc004edg.1 + NM_032553 NP_115942 NRK 203447 broad.mit.edu 37 X 105183969 105183969 + Silent SNP A T T 2012-701:2012-1307-T g.chrX:105183969A>T uc004emd.2 + 23 4206 c.3903A>T c.(3901-3903)ACA>ACT p.T1301T NRK_uc010npc.1_Silent_p.T969T NM_198465 NP_940867 MTOR 2475 broad.mit.edu 37 1 11292666 11292666 + Intron SNP T A A rs10864495 by1000genomes 2012-702:2012-1308-T g.chr1:11292666T>A uc001asd.2 - NM_004958 NP_004949 NBPF1 55672 broad.mit.edu 37 1 16891913 16891913 + Intron SNP C T T 2012-702:2012-1308-T g.chr1:16891913C>T uc009vos.1 - uc001ayw.2_5'Flank NM_017940 NP_060410 NOTCH2 4853 broad.mit.edu 37 1 120505996 120505996 + Intron SNP G C C rs10923929 by1000genomes 2012-702:2012-1308-T g.chr1:120505996G>C uc001eik.2 - NOTCH2_uc001eil.2_Intron|NOTCH2_uc001eim.3_Intron NM_024408 NP_077719 FAM5B 57795 broad.mit.edu 37 1 177140316 177140316 + 5'Flank SNP T G G 2012-702:2012-1308-T g.chr1:177140316T>G uc001glf.2 + NM_021165 NP_066988 TUBGCP2 10844 broad.mit.edu 37 10 135094321 135094321 + Intron SNP A T T 2012-702:2012-1308-T g.chr10:135094321A>T uc001lmg.1 - TUBGCP2_uc001lmf.1_Intron|TUBGCP2_uc010qvc.1_Intron|TUBGCP2_uc009ybk.1_Intron|TUBGCP2_uc010qvd.1_Intron|TUBGCP2_uc001lmh.1_Intron NM_006659 NP_006650 ATM 472 broad.mit.edu 37 11 108204544 108204544 + Intron SNP A T T 2012-702:2012-1308-T g.chr11:108204544A>T uc001pkb.1 + ATM_uc009yxr.1_Intron|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Intron|ATM_uc001pkg.1_Intron NM_000051 NP_000042 F7 2155 broad.mit.edu 37 13 113763063 113763063 + Intron SNP T C C 2012-702:2012-1308-T g.chr13:113763063T>C uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 F7 2155 broad.mit.edu 37 13 113763066 113763066 + Intron SNP A G G 2012-702:2012-1308-T g.chr13:113763066A>G uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 TC2N 123036 broad.mit.edu 37 14 92333611 92333611 + 5'UTR SNP T C C rs3825687 by1000genomes 2012-702:2012-1308-T g.chr14:92333611T>C uc001xzv.3 - 1 NM_001128596 NP_001122068 TLN2 83660 broad.mit.edu 37 15 63030295 63030295 + Intron SNP T G G 2012-702:2012-1308-T g.chr15:63030295T>G uc002alb.3 + TLN2_uc002alc.3_5'Flank NM_015059 NP_055874 CYLD 1540 broad.mit.edu 37 16 50776453 50776453 + Intron SNP T C C 2012-702:2012-1308-T g.chr16:50776453T>C uc002egp.1 + CYLD_uc002egn.1_Intron|CYLD_uc002ego.2_Intron|CYLD_uc010cbs.1_Intron|CYLD_uc002egq.1_Intron|CYLD_uc002egr.1_Intron NM_015247 NP_056062 MYH2 4620 broad.mit.edu 37 17 10442900 10442900 + Intron SNP A T T 2012-702:2012-1308-T g.chr17:10442900A>T uc010coi.2 - uc002gml.1_Intron|MYH2_uc002gmp.3_Intron|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 RAD51C 5889 broad.mit.edu 37 17 56783255 56783255 + Intron SNP C T T rs2567901 by1000genomes 2012-702:2012-1308-T g.chr17:56783255C>T uc002iwu.2 + RAD51C_uc010woa.1_Intron|RAD51C_uc010ddc.2_Intron|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_Intron NM_058216 NP_478123 SLC16A3 9123 broad.mit.edu 37 17 80218284 80218284 + Intron SNP G C C 2012-702:2012-1308-T g.chr17:80218284G>C uc002kee.2 + CSNK1D_uc002kef.2_Intron|CSNK1D_uc002kei.2_Intron|CSNK1D_uc002kej.2_Intron|CSNK1D_uc010wvj.1_Intron NM_004207 NP_004198 FOXK2 3607 broad.mit.edu 37 17 80559047 80559047 + Intron SNP A G G 2012-702:2012-1308-T g.chr17:80559047A>G uc002kfn.2 + FOXK2_uc010diu.2_Intron|FOXK2_uc002kfo.2_Intron|FOXK2_uc002kfp.2_Intron NM_004514 NP_004505 NOTCH3 4854 broad.mit.edu 37 19 15290930 15290930 + Nonsense_Mutation SNP G A A 2012-702:2012-1308-T g.chr19:15290930G>A uc002nan.2 - 20 3356 c.3280C>T c.(3280-3282)CAG>TAG p.Q1094* NOTCH3_uc002nao.1_Nonsense_Mutation_p.Q1042* NM_000435 NP_000426 SFRS14 10147 broad.mit.edu 37 19 19120915 19120915 + Missense_Mutation SNP G A A 2012-702:2012-1308-T g.chr19:19120915G>A uc002nkx.2 - 5 2233 c.2087C>T c.(2086-2088)GCG>GTG p.A696V SFRS14_uc002nkz.1_Missense_Mutation_p.A710V|SFRS14_uc002nla.1_Missense_Mutation_p.A696V|SFRS14_uc002nlb.2_Missense_Mutation_p.A696V|SFRS14_uc010xqk.1_Missense_Mutation_p.A465V NM_014884 NP_055699 BCL11A 53335 broad.mit.edu 37 2 60694386 60694386 + Intron SNP A G G rs62142607 2012-702:2012-1308-T g.chr2:60694386A>G uc002sae.1 - BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Intron|BCL11A_uc002sad.1_Intron|BCL11A_uc002saf.1_Intron NM_022893 NP_075044 TFCP2L1 29842 broad.mit.edu 37 2 121983503 121983503 + Intron SNP C T T 2012-702:2012-1308-T g.chr2:121983503C>T uc002tmx.2 - TFCP2L1_uc010flr.2_Intron|TFCP2L1_uc010flq.2_Intron NM_014553 NP_055368 ARFGEF2 10564 broad.mit.edu 37 20 47601835 47601835 + Intron SNP A G G 2012-702:2012-1308-T g.chr20:47601835A>G uc002xtx.3 + ARFGEF2_uc010zyf.1_Intron NM_006420 NP_006411 TUBA8 51807 broad.mit.edu 37 22 18584433 18584433 + Intron SNP T C C rs3827281 by1000genomes 2012-702:2012-1308-T g.chr22:18584433T>C uc002znr.2 + NM_018943 NP_061816 MPPED1 758 broad.mit.edu 37 22 43896265 43896265 + Intron SNP A G G 2012-702:2012-1308-T g.chr22:43896265A>G uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 FAM19A5 25817 broad.mit.edu 37 22 49062364 49062364 + Intron SNP A C C 2012-702:2012-1308-T g.chr22:49062364A>C uc003bim.3 + FAM19A5_uc003bio.3_Intron NM_001082967 NP_001076436 MUC4 4585 broad.mit.edu 37 3 195498049 195498049 + Intron SNP T C C 2012-702:2012-1308-T g.chr3:195498049T>C uc011bto.1 - MUC4_uc003fuz.2_Intron|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 PCGF3 10336 broad.mit.edu 37 4 701687 701687 + Intron SNP C T T rs138704939 by1000genomes 2012-702:2012-1308-T g.chr4:701687C>T uc011bva.1 + PCGF3_uc003gbc.1_Intron|PCGF3_uc003gbd.1_Intron|PCGF3_uc003gbe.2_Intron|PCGF3_uc010ibh.2_Intron NM_006315 NP_006306 INPP4B 8821 broad.mit.edu 37 4 143044623 143044623 + Intron SNP T C C 2012-702:2012-1308-T g.chr4:143044623T>C uc003iix.3 - INPP4B_uc003iiw.3_Intron|INPP4B_uc011chm.1_Intron|INPP4B_uc011chn.1_Intron|INPP4B_uc011cho.1_Intron|INPP4B_uc011chp.1_Intron NM_003866 NP_003857 FAT1 2195 broad.mit.edu 37 4 187521037 187521037 + Intron SNP C A A rs10009030 by1000genomes 2012-702:2012-1308-T g.chr4:187521037C>A uc003izf.2 - FAT1_uc003ize.2_5'Flank NM_005245 NP_005236 HLA-G 3135 broad.mit.edu 37 6 29854132 29854132 + Intron SNP T C C rs113600363 by1000genomes 2012-702:2012-1308-T g.chr6:29854132T>C uc011dmb.1 + HLA-H_uc003nod.2_5'Flank|HLA-H_uc010jro.2_5'Flank NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29854135 29854135 + Intron SNP T C C rs112274463 by1000genomes 2012-702:2012-1308-T g.chr6:29854135T>C uc011dmb.1 + HLA-H_uc003nod.2_5'Flank|HLA-H_uc010jro.2_5'Flank NM_002127 NP_002118 HLA-B 3106 broad.mit.edu 37 6 31321807 31321807 + 3'UTR SNP G A A rs113568626 2012-702:2012-1308-T g.chr6:31321807G>A uc003nth.2 - 8 HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_3'UTR NM_005514 NP_005505 HLA-B 3106 broad.mit.edu 37 6 31322133 31322133 + Intron SNP A G G rs3819306 by1000genomes 2012-702:2012-1308-T g.chr6:31322133A>G uc003nth.2 - HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Intron NM_005514 NP_005505 ADAP1 11033 broad.mit.edu 37 7 945194 945194 + Intron SNP A G G 2012-702:2012-1308-T g.chr7:945194A>G uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 SDK1 221935 broad.mit.edu 37 7 4219881 4219882 + Intron DNP TG CA CA 2012-702:2012-1308-T g.chr7:4219881_4219882TG>CA uc003smx.2 + SDK1_uc010kso.2_Intron|SDK1_uc003smy.2_Intron NM_152744 NP_689957 ETV1 2115 broad.mit.edu 37 7 14029772 14029772 + 5'Flank SNP G C C rs2073532 by1000genomes 2012-702:2012-1308-T g.chr7:14029772G>C uc011jxq.1 - ETV1_uc003ssw.3_5'Flank|ETV1_uc003ssx.2_Intron|ETV1_uc011jxr.1_Intron|ETV1_uc011jxs.1_Intron NM_004956 NP_004947 EGFR 1956 broad.mit.edu 37 7 55235265 55235265 + Intron SNP G A A 2012-702:2012-1308-T g.chr7:55235265G>A uc003tqk.2 + EGFR_uc003tqi.2_Intron|EGFR_uc003tqj.2_Intron|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Intron|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron NM_005228 NP_005219 ZNF804B 219578 broad.mit.edu 37 7 88965215 88965215 + Missense_Mutation SNP C A A 2012-702:2012-1308-T g.chr7:88965215C>A uc011khi.1 + 4 3457 c.2919C>A c.(2917-2919)AAC>AAA p.N973K NM_181646 NP_857597 PTPRN2 5799 broad.mit.edu 37 7 157941128 157941128 + Intron SNP A C C 2012-702:2012-1308-T g.chr7:157941128A>C uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158141017 158141017 + Intron SNP C A A rs112271746 2012-702:2012-1308-T g.chr7:158141017C>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTK2B 2185 broad.mit.edu 37 8 27290869 27290869 + Intron SNP T G G 2012-702:2012-1308-T g.chr8:27290869T>G uc003xfn.1 + PTK2B_uc003xfo.1_Intron|PTK2B_uc003xfp.1_Intron|PTK2B_uc003xfq.1_Intron|PTK2B_uc010luq.1_Intron|PTK2B_uc003xfr.1_Intron NM_173174 NP_775266 CSMD3 114788 broad.mit.edu 37 8 113519035 113519035 + Missense_Mutation SNP C T T 2012-702:2012-1308-T g.chr8:113519035C>T uc003ynu.2 - 29 4939 c.4780G>A c.(4780-4782)GGA>AGA p.G1594R CSMD3_uc003yns.2_Missense_Mutation_p.G866R|CSMD3_uc003ynt.2_Missense_Mutation_p.G1554R|CSMD3_uc011lhx.1_Missense_Mutation_p.G1490R NM_198123 NP_937756 NBPF1 55672 broad.mit.edu 37 1 16892060 16892060 + Intron SNP G C C rs140609389 by1000genomes 2012-703:2012-1309-T g.chr1:16892060G>C uc009vos.1 - uc001ayw.2_5'Flank NM_017940 NP_060410 ARID1A 8289 broad.mit.edu 37 1 27107035 27107035 + Missense_Mutation SNP C T T 2012-703:2012-1309-T g.chr1:27107035C>T uc001bmv.1 + 20 7019 c.6646C>T c.(6646-6648)CTC>TTC p.L2216F ARID1A_uc001bmu.1_Missense_Mutation_p.L1999F|ARID1A_uc001bmx.1_Missense_Mutation_p.L1062F|ARID1A_uc009vsm.1_Missense_Mutation_p.L544F|ARID1A_uc009vsn.1_Missense_Mutation_p.L458F NM_006015 NP_006006 PTPRF 5792 broad.mit.edu 37 1 44071018 44071018 + Missense_Mutation SNP A C C 2012-703:2012-1309-T g.chr1:44071018A>C uc001cjr.2 + 18 3633 c.3293A>C c.(3292-3294)GAC>GCC p.D1098A PTPRF_uc001cjs.2_Missense_Mutation_p.D1089A|PTPRF_uc001cju.2_Missense_Mutation_p.D476A|PTPRF_uc009vwt.2_Missense_Mutation_p.D658A|PTPRF_uc001cjv.2_Missense_Mutation_p.D558A|PTPRF_uc001cjw.2_Missense_Mutation_p.D324A NM_002840 NP_002831 LOC200030 200030 broad.mit.edu 37 1 148011106 148011106 + Intron SNP A G G 2012-703:2012-1309-T g.chr1:148011106A>G uc001eqf.2 - LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Intron|NBPF14_uc001eqq.2_Intron|NBPF14_uc010pad.1_Intron|NBPF14_uc001eqs.1_Intron NM_017940 NP_060410 USH2A 7399 broad.mit.edu 37 1 216348737 216348737 + Missense_Mutation SNP C A A 2012-703:2012-1309-T g.chr1:216348737C>A uc001hku.1 - 21 4871 c.4484G>T c.(4483-4485)GGA>GTA p.G1495V USH2A_uc001hkv.2_Missense_Mutation_p.G1495V NM_206933 NP_996816 GPR123 84435 broad.mit.edu 37 10 134893330 134893330 + Intron SNP G T T 2012-703:2012-1309-T g.chr10:134893330G>T uc001llw.2 + NTM 50863 broad.mit.edu 37 11 131550489 131550489 + Intron SNP G C C 2012-703:2012-1309-T g.chr11:131550489G>C uc010sci.1 + NTM_uc001qgm.2_Intron|NTM_uc010sch.1_Intron NM_001144058 NP_001137530 LRRK2 120892 broad.mit.edu 37 12 40707755 40707755 + Intron SNP G T T 2012-703:2012-1309-T g.chr12:40707755G>T uc001rmg.3 + LRRK2_uc009zjw.2_Intron|LRRK2_uc001rmi.2_Intron NM_198578 NP_940980 ERBB3 2065 broad.mit.edu 37 12 56488961 56488961 + Intron SNP C A A 2012-703:2012-1309-T g.chr12:56488961C>A uc001sjh.2 + ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Intron|ERBB3_uc009zok.2_Intron|ERBB3_uc001sjk.2_5'Flank NM_001982 NP_001973 GALNT9 50614 broad.mit.edu 37 12 132881032 132881032 + Intron SNP C G G 2012-703:2012-1309-T g.chr12:132881032C>G uc001ukc.3 - GALNT9_uc009zys.2_Intron NM_001122636 NP_001116108 ZDHHC20 253832 broad.mit.edu 37 13 21951632 21951633 + Intron DNP GA TG TG 2012-703:2012-1309-T g.chr13:21951632_21951633GA>TG uc001uob.2 - ZDHHC20_uc001uod.2_Intron|ZDHHC20_uc001uoc.2_Intron|ZDHHC20_uc001uoe.2_Intron|ZDHHC20_uc010tcs.1_Intron|uc001uoa.1_5'Flank NM_153251 NP_694983 COL4A2 1284 broad.mit.edu 37 13 111133715 111133715 + Intron SNP T A A 2012-703:2012-1309-T g.chr13:111133715T>A uc001vqx.2 + NM_001846 NP_001837 DICER1 23405 broad.mit.edu 37 14 95566172 95566172 + Missense_Mutation SNP C A A 2012-703:2012-1309-T g.chr14:95566172C>A uc001ydw.2 - 23 4333 c.4151G>T c.(4150-4152)GGT>GTT p.G1384V DICER1_uc010avh.1_Missense_Mutation_p.G282V|DICER1_uc001ydv.2_Missense_Mutation_p.G1374V|DICER1_uc001ydx.2_Missense_Mutation_p.G1384V|DICER1_uc001ydy.1_Missense_Mutation_p.G236V NM_030621 NP_085124 INO80 54617 broad.mit.edu 37 15 41324316 41324316 + Intron SNP A C C 2012-703:2012-1309-T g.chr15:41324316A>C uc001zni.2 - INO80_uc010ucu.1_Intron NM_017553 NP_060023 TLN2 83660 broad.mit.edu 37 15 63030309 63030309 + Intron SNP T G G 2012-703:2012-1309-T g.chr15:63030309T>G uc002alb.3 + TLN2_uc002alc.3_5'Flank NM_015059 NP_055874 LMF1 64788 broad.mit.edu 37 16 908464 908464 + Intron SNP C T T 2012-703:2012-1309-T g.chr16:908464C>T uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 CDH11 1009 broad.mit.edu 37 16 65032726 65032726 + Missense_Mutation SNP T C C 2012-703:2012-1309-T g.chr16:65032726T>C uc002eoi.2 - 4 696 c.262A>G c.(262-264)ATT>GTT p.I88V CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.I88V|CDH11_uc010vin.1_5'UTR|CDH11_uc010vio.1_Missense_Mutation_p.I88V NM_001797 NP_001788 TP53 7157 broad.mit.edu 37 17 7579415 7579415 + Nonsense_Mutation SNP C T T 2012-703:2012-1309-T g.chr17:7579415C>T uc002gim.2 - 4 466 c.272G>A c.(271-273)TGG>TAG p.W91* TP53_uc002gig.1_Nonsense_Mutation_p.W91*|TP53_uc002gih.2_Nonsense_Mutation_p.W91*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.W91*|TP53_uc010cni.1_Nonsense_Mutation_p.W91*|TP53_uc002gij.2_Nonsense_Mutation_p.W91*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.W52*|TP53_uc010cnk.1_Nonsense_Mutation_p.W106* NM_001126112 NP_001119584 DSEL 92126 broad.mit.edu 37 18 65181054 65181054 + Silent SNP T G G 2012-703:2012-1309-T g.chr18:65181054T>G uc002lke.1 - 2 2046 c.822A>C c.(820-822)CTA>CTC p.L274L NM_032160 NP_115536 ATP9B 374868 broad.mit.edu 37 18 77117948 77117948 + Intron SNP T G G 2012-703:2012-1309-T g.chr18:77117948T>G uc002lmx.2 + ATP9B_uc002lmw.1_Intron|ATP9B_uc002lmz.1_Intron|ATP9B_uc002lna.2_Intron|ATP9B_uc002lnb.1_Intron|ATP9B_uc010drb.2_Intron NM_198531 NP_940933 DOT1L 84444 broad.mit.edu 37 19 2200810 2200810 + Intron SNP C T T 2012-703:2012-1309-T g.chr19:2200810C>T uc002lvb.3 + NM_032482 NP_115871 ZNF77 58492 broad.mit.edu 37 19 2939233 2939233 + Intron SNP G A A rs113148401 by1000genomes 2012-703:2012-1309-T g.chr19:2939233G>A uc002lws.3 - NM_021217 NP_067040 COL5A3 50509 broad.mit.edu 37 19 10080900 10080900 + Intron SNP G T T 2012-703:2012-1309-T g.chr19:10080900G>T uc002mmq.1 - NM_015719 NP_056534 AXL 558 broad.mit.edu 37 19 41758691 41758691 + Intron SNP T G G 2012-703:2012-1309-T g.chr19:41758691T>G uc010ehj.2 + CYP2F1_uc010xvw.1_Intron|AXL_uc010ehk.2_Intron NM_021913 NP_068713 PPP1R12C 54776 broad.mit.edu 37 19 55621724 55621724 + Intron SNP G A A 2012-703:2012-1309-T g.chr19:55621724G>A uc002qix.2 - PPP1R12C_uc010yfs.1_Intron|PPP1R12C_uc002qiy.2_Intron NM_017607 NP_060077 ZSCAN5A 79149 broad.mit.edu 37 19 56747952 56747952 + Intron SNP C T T 2012-703:2012-1309-T g.chr19:56747952C>T uc002qmr.2 - ZSCAN5A_uc010ygi.1_Intron NM_024303 NP_077279 MYT1L 23040 broad.mit.edu 37 2 2240341 2240341 + Intron SNP T C C 2012-703:2012-1309-T g.chr2:2240341T>C uc002qxe.2 - MYT1L_uc002qxd.2_Intron NM_015025 NP_055840 APOB 338 broad.mit.edu 37 2 21230696 21230696 + Missense_Mutation SNP G T T 2012-703:2012-1309-T g.chr2:21230696G>T uc002red.2 - 26 9172 c.9044C>A c.(9043-9045)GCA>GAA p.A3015E NM_000384 NP_000375 LRP1B 53353 broad.mit.edu 37 2 141625162 141625162 + Missense_Mutation SNP G T T 2012-703:2012-1309-T g.chr2:141625162G>T uc002tvj.1 - 27 5548 c.4576C>A c.(4576-4578)CAG>AAG p.Q1526K LRP1B_uc010fnl.1_Missense_Mutation_p.Q708K NM_018557 NP_061027 MAP2 4133 broad.mit.edu 37 2 210558621 210558621 + Missense_Mutation SNP C A A 2012-703:2012-1309-T g.chr2:210558621C>A uc002vde.1 + 7 1975 c.1727C>A c.(1726-1728)TCT>TAT p.S576Y MAP2_uc002vdc.1_Missense_Mutation_p.S576Y|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.S572Y NM_002374 NP_002365 COL6A3 1293 broad.mit.edu 37 2 238285917 238285917 + Silent SNP A G G 2012-703:2012-1309-T g.chr2:238285917A>G uc002vwl.2 - 7 2853 c.2568T>C c.(2566-2568)CGT>CGC p.R856R COL6A3_uc002vwo.2_Silent_p.R650R|COL6A3_uc010znj.1_Silent_p.R249R|COL6A3_uc002vwq.2_Silent_p.R650R|COL6A3_uc002vwr.2_Silent_p.R449R|COL6A3_uc010znk.1_Silent_p.R656R NM_004369 NP_004360 EPHA3 2042 broad.mit.edu 37 3 89259104 89259104 + Missense_Mutation SNP G A A 2012-703:2012-1309-T g.chr3:89259104G>A uc003dqy.2 + 3 473 c.248G>A c.(247-249)AGA>AAA p.R83K EPHA3_uc003dqx.1_Missense_Mutation_p.R83K|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 CHCHD6 84303 broad.mit.edu 37 3 126582429 126582429 + Intron SNP T C C 2012-703:2012-1309-T g.chr3:126582429T>C uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 PPP2R2C 5522 broad.mit.edu 37 4 6513564 6513564 + Intron SNP A G G 2012-703:2012-1309-T g.chr4:6513564A>G uc011bwd.1 - PPP2R2C_uc011bwe.1_Intron NM_181876 NP_870991 FBXW7 55294 broad.mit.edu 37 4 153247367 153247367 + Missense_Mutation SNP G C C 2012-703:2012-1309-T g.chr4:153247367G>C uc003ims.2 - 10 1584 c.1435C>G c.(1435-1437)CGA>GGA p.R479G FBXW7_uc011cii.1_Missense_Mutation_p.R479G|FBXW7_uc003imt.2_Missense_Mutation_p.R479G|FBXW7_uc011cih.1_Missense_Mutation_p.R303G|FBXW7_uc003imq.2_Missense_Mutation_p.R399G|FBXW7_uc003imr.2_Missense_Mutation_p.R361G NM_033632 NP_361014 AHRR 57491 broad.mit.edu 37 5 397526 397526 + Intron SNP C A A 2012-703:2012-1309-T g.chr5:397526C>A uc003jav.2 + AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Intron NM_020731 NP_065782 DNAH5 1767 broad.mit.edu 37 5 13885036 13885036 + Intron SNP C G G 2012-703:2012-1309-T g.chr5:13885036C>G uc003jfd.2 - NM_001369 NP_001360 NSD1 64324 broad.mit.edu 37 5 176707836 176707836 + Splice_Site SNP G T T 2012-703:2012-1309-T g.chr5:176707836G>T uc003mfr.3 + 18 6030 c.5892_splice c.e18+1 p.K1964_splice NSD1_uc003mft.3_Splice_Site_p.K1695_splice|NSD1_uc011dfx.1_Splice_Site_p.K1612_splice NM_022455 NP_071900 FAM153C 653316 broad.mit.edu 37 5 177475169 177475169 + Intron SNP G A A 2012-703:2012-1309-T g.chr5:177475169G>A uc011dge.1 + NM_001079527 NP_001072995 RPP40 10799 broad.mit.edu 37 6 5001146 5001146 + Intron SNP A T T rs113382164 2012-703:2012-1309-T g.chr6:5001146A>T uc003mwl.2 - uc003mwn.1_5'Flank|RPP40_uc003mwm.2_Intron NM_006638 NP_006629 GRM4 2914 broad.mit.edu 37 6 33989820 33989820 + 3'UTR SNP T C C 2012-703:2012-1309-T g.chr6:33989820T>C uc003oir.3 - 10 GRM4_uc011dsn.1_3'UTR|GRM4_uc010jvh.2_3'UTR|GRM4_uc010jvi.2_3'UTR|GRM4_uc003oio.2_3'UTR|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_3'UTR|GRM4_uc003oiq.2_3'UTR|GRM4_uc011dsm.1_3'UTR NM_000841 NP_000832 SYNE1 23345 broad.mit.edu 37 6 152721029 152721029 + Intron SNP T C C rs214951 by1000genomes 2012-703:2012-1309-T g.chr6:152721029T>C uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron NM_182961 NP_892006 PARK2 5071 broad.mit.edu 37 6 162206972 162206972 + Intron SNP T C C 2012-703:2012-1309-T g.chr6:162206972T>C uc003qtx.3 - PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Intron|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Intron|PARK2_uc011egf.1_Intron NM_004562 NP_004553 SMOC2 64094 broad.mit.edu 37 6 169014436 169014436 + Intron SNP C T T rs149703584 by1000genomes 2012-703:2012-1309-T g.chr6:169014436C>T uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 SMOC2 64094 broad.mit.edu 37 6 169060443 169060443 + Intron SNP T G G rs112030509 by1000genomes 2012-703:2012-1309-T g.chr6:169060443T>G uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_Intron NM_022138 NP_071421 PRKAR1B 5575 broad.mit.edu 37 7 594314 594314 + Intron SNP A G G rs34095446 2012-703:2012-1309-T g.chr7:594314A>G uc003siu.1 - PRKAR1B_uc003siv.2_Intron|PRKAR1B_uc003siw.1_Intron NM_002735 NP_002726 EIF2AK1 27102 broad.mit.edu 37 7 6098972 6098972 + 5'Flank SNP T G G 2012-703:2012-1309-T g.chr7:6098972T>G uc003spp.2 - EIF2AK1_uc003spq.2_5'Flank|EIF2AK1_uc011jwm.1_5'Flank NM_014413 NP_055228 OGDH 4967 broad.mit.edu 37 7 44747386 44747386 + Intron SNP A G G 2012-703:2012-1309-T g.chr7:44747386A>G uc003tln.2 + OGDH_uc011kbx.1_Intron|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Intron|OGDH_uc011kbz.1_Intron NM_002541 NP_002532 PIK3CG 5294 broad.mit.edu 37 7 106510003 106510003 + Splice_Site SNP T G G 2012-703:2012-1309-T g.chr7:106510003T>G uc003vdv.3 + 2 2080 c.1995_splice c.e2+2 p.Q665_splice PIK3CG_uc003vdu.2_Splice_Site_p.Q665_splice|PIK3CG_uc003vdw.2_Splice_Site_p.Q665_splice NM_002649 NP_002640 GRM8 2918 broad.mit.edu 37 7 126173235 126173235 + Missense_Mutation SNP T A A 2012-703:2012-1309-T g.chr7:126173235T>A uc003vlr.2 - 8 2512 c.2201A>T c.(2200-2202)GAG>GTG p.E734V GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.E734V|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 PTPRN2 5799 broad.mit.edu 37 7 157344341 157344341 + Intron SNP C A A 2012-703:2012-1309-T g.chr7:157344341C>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|PTPRN2_uc003wnn.2_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157392609 157392609 + Intron SNP G C C 2012-703:2012-1309-T g.chr7:157392609G>C uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTK2B 2185 broad.mit.edu 37 8 27290869 27290869 + Intron SNP T G G 2012-703:2012-1309-T g.chr8:27290869T>G uc003xfn.1 + PTK2B_uc003xfo.1_Intron|PTK2B_uc003xfp.1_Intron|PTK2B_uc003xfq.1_Intron|PTK2B_uc010luq.1_Intron|PTK2B_uc003xfr.1_Intron NM_173174 NP_775266 UNC5D 137970 broad.mit.edu 37 8 35624406 35624406 + Intron SNP C T T 2012-703:2012-1309-T g.chr8:35624406C>T uc003xjr.1 + UNC5D_uc003xjs.1_Intron|UNC5D_uc003xju.1_Intron NM_080872 NP_543148 NECAB1 64168 broad.mit.edu 37 8 91953146 91953146 + Intron SNP C T T 2012-703:2012-1309-T g.chr8:91953146C>T uc011lgg.1 + NECAB1_uc003yer.2_Intron NM_022351 NP_071746 CSMD3 114788 broad.mit.edu 37 8 113249380 113249380 + Intron SNP T A A 2012-703:2012-1309-T g.chr8:113249380T>A uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 CSMD3 114788 broad.mit.edu 37 8 113364727 113364727 + Missense_Mutation SNP G T T 2012-703:2012-1309-T g.chr8:113364727G>T uc003ynu.2 - 39 6332 c.6173C>A c.(6172-6174)CCT>CAT p.P2058H CSMD3_uc003yns.2_Missense_Mutation_p.P1260H|CSMD3_uc003ynt.2_Missense_Mutation_p.P2018H|CSMD3_uc011lhx.1_Missense_Mutation_p.P1954H NM_198123 NP_937756 ZFP41 286128 broad.mit.edu 37 8 144342173 144342173 + 3'UTR SNP G C C 2012-703:2012-1309-T g.chr8:144342173G>C uc003yxw.2 + 3 ZFP41_uc003yxv.2_Intron NM_173832 NP_776193 ZFP41 286128 broad.mit.edu 37 8 144342202 144342202 + 3'UTR SNP G C C 2012-703:2012-1309-T g.chr8:144342202G>C uc003yxw.2 + 3 ZFP41_uc003yxv.2_Intron NM_173832 NP_776193 TOP1MT 116447 broad.mit.edu 37 8 144403722 144403722 + Intron SNP G A A rs138352295 by1000genomes 2012-703:2012-1309-T g.chr8:144403722G>A uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 VAV2 7410 broad.mit.edu 37 9 136693269 136693269 + Intron SNP A G G 2012-703:2012-1309-T g.chr9:136693269A>G uc004ces.2 - VAV2_uc004cer.2_Intron NM_001134398 NP_001127870 HEPH 9843 broad.mit.edu 37 X 65392501 65392501 + Intron SNP C T T 2012-703:2012-1309-T g.chrX:65392501C>T uc011moz.1 + HEPH_uc004dwn.2_Intron|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Intron NM_138737 NP_620074 SCNN1D 6339 broad.mit.edu 37 1 1223826 1223826 + Intron SNP T C C 2012-705:2012-1310-T g.chr1:1223826T>C uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 SCNN1D 6339 broad.mit.edu 37 1 1225279 1225279 + Intron SNP T C C 2012-705:2012-1310-T g.chr1:1225279T>C uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 CHD5 26038 broad.mit.edu 37 1 6219545 6219545 + Missense_Mutation SNP C T T 2012-705:2012-1310-T g.chr1:6219545C>T uc001amb.1 - 3 338 c.238G>A c.(238-240)GAG>AAG p.E80K NM_015557 NP_056372 PIK3CD 5293 broad.mit.edu 37 1 9784245 9784245 + Intron SNP T G G 2012-705:2012-1310-T g.chr1:9784245T>G uc001aqb.3 + PIK3CD_uc010oaf.1_Intron|PIK3CD_uc001aqe.3_Intron NM_005026 NP_005017 NBPF3 84224 broad.mit.edu 37 1 21800003 21800003 + Missense_Mutation SNP G A A 2012-705:2012-1310-T g.chr1:21800003G>A uc001ber.2 + 7 1215 c.865G>A c.(865-867)GAA>AAA p.E289K NBPF3_uc001bes.2_Missense_Mutation_p.E233K|NBPF3_uc009vqb.2_Missense_Mutation_p.E289K|NBPF3_uc010odm.1_Missense_Mutation_p.E219K NM_032264 NP_115640 MACF1 23499 broad.mit.edu 37 1 39889615 39889615 + Intron SNP T G G 2012-705:2012-1310-T g.chr1:39889615T>G uc010oiu.1 + MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron NM_033044 NP_149033 PTPRF 5792 broad.mit.edu 37 1 44071018 44071018 + Missense_Mutation SNP A C C 2012-705:2012-1310-T g.chr1:44071018A>C uc001cjr.2 + 18 3633 c.3293A>C c.(3292-3294)GAC>GCC p.D1098A PTPRF_uc001cjs.2_Missense_Mutation_p.D1089A|PTPRF_uc001cju.2_Missense_Mutation_p.D476A|PTPRF_uc009vwt.2_Missense_Mutation_p.D658A|PTPRF_uc001cjv.2_Missense_Mutation_p.D558A|PTPRF_uc001cjw.2_Missense_Mutation_p.D324A NM_002840 NP_002831 COL11A1 1301 broad.mit.edu 37 1 103491726 103491726 + Intron SNP G A A 2012-705:2012-1310-T g.chr1:103491726G>A uc001dul.2 - COL11A1_uc001duk.2_Intron|COL11A1_uc001dum.2_Intron|COL11A1_uc001dun.2_Intron|COL11A1_uc009weh.2_Intron NM_001854 NP_001845 NOTCH2 4853 broad.mit.edu 37 1 120465504 120465504 + Intron SNP C T T 2012-705:2012-1310-T g.chr1:120465504C>T uc001eik.2 - NM_024408 NP_077719 NOTCH2 4853 broad.mit.edu 37 1 120596846 120596846 + Intron SNP G A A 2012-705:2012-1310-T g.chr1:120596846G>A uc001eik.2 - NOTCH2_uc001eil.2_Intron|NOTCH2_uc001eim.3_Intron NM_024408 NP_077719 PDE4DIP 9659 broad.mit.edu 37 1 144854452 144854452 + Intron SNP T A A rs3863690 by1000genomes 2012-705:2012-1310-T g.chr1:144854452T>A uc001elw.3 - NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Intron NM_014644 NP_055459 LOC200030 200030 broad.mit.edu 37 1 148005000 148005000 + Intron SNP C A A rs71729867 2012-705:2012-1310-T g.chr1:148005000C>A uc001eqf.2 - LOC200030_uc010ozz.1_Intron|LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqq.2_Intron NM_017940 NP_060410 DDR2 4921 broad.mit.edu 37 1 162602099 162602099 + 5'Flank SNP C T T 2012-705:2012-1310-T g.chr1:162602099C>T uc001gcf.2 + DDR2_uc001gcg.2_5'Flank NM_001014796 NP_001014796 DDR2 4921 broad.mit.edu 37 1 162740536 162740536 + Intron SNP G C C 2012-705:2012-1310-T g.chr1:162740536G>C uc001gcf.2 + DDR2_uc001gcg.2_Intron NM_001014796 NP_001014796 IRF6 3664 broad.mit.edu 37 1 209969630 209969630 + Intron SNP C T T 2012-705:2012-1310-T g.chr1:209969630C>T uc001hhq.1 - IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Intron NM_006147 NP_006138 CABC1 56997 broad.mit.edu 37 1 227147862 227147862 + Intron SNP A G G 2012-705:2012-1310-T g.chr1:227147862A>G uc001hqm.1 + CABC1_uc010pvp.1_Intron|CABC1_uc001hqn.1_Intron|CABC1_uc009xeq.1_Intron|CABC1_uc010pvq.1_Intron NM_020247 NP_064632 DIP2C 22982 broad.mit.edu 37 10 463933 463933 + Intron SNP C T T 2012-705:2012-1310-T g.chr10:463933C>T uc001ifp.2 - NM_014974 NP_055789 DIP2C 22982 broad.mit.edu 37 10 703621 703621 + Intron SNP G C C 2012-705:2012-1310-T g.chr10:703621G>C uc001ifp.2 - C10orf108_uc001ifr.2_Intron NM_014974 NP_055789 ADARB2 105 broad.mit.edu 37 10 1369988 1369988 + Intron SNP G T T 2012-705:2012-1310-T g.chr10:1369988G>T uc009xhq.2 - NM_018702 NP_061172 PCDH15 65217 broad.mit.edu 37 10 55570318 55570318 + Missense_Mutation SNP C G G 2012-705:2012-1310-T g.chr10:55570318C>G uc010qhs.1 - 36 4911 c.4516G>C c.(4516-4518)GAG>CAG p.E1506Q PCDH15_uc010qhq.1_Missense_Mutation_p.E1499Q|PCDH15_uc010qhr.1_Missense_Mutation_p.E1494Q|PCDH15_uc010qht.1_Missense_Mutation_p.E1499Q|PCDH15_uc010qhu.1_Missense_Mutation_p.K1517N NM_001142769 NP_001136241 GPR123 84435 broad.mit.edu 37 10 134891920 134891920 + Intron SNP T G G 2012-705:2012-1310-T g.chr10:134891920T>G uc001llw.2 + MUC2 4583 broad.mit.edu 37 11 1092971 1092971 + Missense_Mutation SNP C T T 2012-705:2012-1310-T g.chr11:1092971C>T uc001lsx.1 + 31 11903 c.11876C>T c.(11875-11877)ACA>ATA p.T3959I NM_002457 NP_002448 PIK3C2A 5286 broad.mit.edu 37 11 17132120 17132121 + Intron DNP GG AA AA 2012-705:2012-1310-T g.chr11:17132120_17132121GG>AA uc001mmq.3 - PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Intron|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 PIK3C2A 5286 broad.mit.edu 37 11 17139196 17139196 + Missense_Mutation SNP C T T 2012-705:2012-1310-T g.chr11:17139196C>T uc001mmq.3 - 18 3124 c.3058G>A c.(3058-3060)GAT>AAT p.D1020N PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.D640N|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 ELP4 26610 broad.mit.edu 37 11 31531321 31531321 + 5'UTR SNP G C C 2012-705:2012-1310-T g.chr11:31531321G>C uc001mtb.2 + 1 IMMP1L_uc001msy.1_5'Flank|IMMP1L_uc001msz.1_5'Flank|ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_5'UTR|ELP4_uc010rdz.1_5'UTR|IMMP1L_uc009yjo.2_5'Flank|IMMP1L_uc009yjp.2_5'Flank NM_019040 NP_061913 ELP4 26610 broad.mit.edu 37 11 31671760 31671760 + Silent SNP C T T 2012-705:2012-1310-T g.chr11:31671760C>T uc001mtb.2 + 9 1169 c.1134C>T c.(1132-1134)TTC>TTT p.F378F ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.F378F|ELP4_uc010rdz.1_Silent_p.F379F NM_019040 NP_061913 FAT3 120114 broad.mit.edu 37 11 92439038 92439038 + Intron SNP A G G 2012-705:2012-1310-T g.chr11:92439038A>G uc001pdj.3 + NM_001008781 NP_001008781 ETV6 2120 broad.mit.edu 37 12 11905436 11905436 + Missense_Mutation SNP C T T 2012-705:2012-1310-T g.chr12:11905436C>T uc001qzz.2 + 2 360 c.86C>T c.(85-87)TCC>TTC p.S29F NM_001987 NP_001978 PDE3A 5139 broad.mit.edu 37 12 20774266 20774266 + Silent SNP C T T 2012-705:2012-1310-T g.chr12:20774266C>T uc001reh.1 + 5 1483 c.1461C>T c.(1459-1461)CTC>CTT p.L487L NM_000921 NP_000912 MLL2 8085 broad.mit.edu 37 12 49427743 49427743 + Missense_Mutation SNP C T T 2012-705:2012-1310-T g.chr12:49427743C>T uc001rta.3 - 39 10745 c.10745G>A c.(10744-10746)CGG>CAG p.R3582Q NM_003482 NP_003473 E2F7 144455 broad.mit.edu 37 12 77423723 77423723 + Nonsense_Mutation SNP G C C 2012-705:2012-1310-T g.chr12:77423723G>C uc001sym.3 - 10 2008 c.1772C>G c.(1771-1773)TCA>TGA p.S591* E2F7_uc009zse.2_Nonsense_Mutation_p.S78* NM_203394 NP_976328 TMEM132D 121256 broad.mit.edu 37 12 129694054 129694054 + Intron SNP T G G 2012-705:2012-1310-T g.chr12:129694054T>G uc009zyl.1 - NM_133448 NP_597705 TMEM132D 121256 broad.mit.edu 37 12 130340085 130340085 + Intron SNP G C C 2012-705:2012-1310-T g.chr12:130340085G>C uc009zyl.1 - NM_133448 NP_597705 BRCA2 675 broad.mit.edu 37 13 32931988 32931988 + Missense_Mutation SNP G C C 2012-705:2012-1310-T g.chr13:32931988G>C uc001uub.1 + 16 7954 c.7727G>C c.(7726-7728)GGA>GCA p.G2576A NM_000059 NP_000050 C13orf35 400165 broad.mit.edu 37 13 113299703 113299704 + 5'Flank DNP CA TG TG rs117360698 2012-705:2012-1310-T g.chr13:113299703_113299704CA>TG uc001vsh.1 + NM_207440 NP_997323 RIN3 79890 broad.mit.edu 37 14 93106422 93106422 + Intron SNP G A A 2012-705:2012-1310-T g.chr14:93106422G>A uc001yap.2 + RIN3_uc010auk.2_Intron|RIN3_uc001yaq.2_Intron NM_024832 NP_079108 TLN2 83660 broad.mit.edu 37 15 63030295 63030295 + Intron SNP T G G 2012-705:2012-1310-T g.chr15:63030295T>G uc002alb.3 + TLN2_uc002alc.3_5'Flank NM_015059 NP_055874 LMF1 64788 broad.mit.edu 37 16 1000372 1000372 + Intron SNP G A A 2012-705:2012-1310-T g.chr16:1000372G>A uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 BAIAP3 8938 broad.mit.edu 37 16 1389827 1389827 + Intron SNP C G G 2012-705:2012-1310-T g.chr16:1389827C>G uc002clk.1 + BAIAP3_uc002clj.2_Intron|BAIAP3_uc010uuz.1_Intron|BAIAP3_uc010uva.1_Intron|BAIAP3_uc010uvb.1_Intron|BAIAP3_uc010uvc.1_Intron NM_003933 NP_003924 DNAH3 55567 broad.mit.edu 37 16 21082039 21082039 + Missense_Mutation SNP C T T 2012-705:2012-1310-T g.chr16:21082039C>T uc010vbe.1 - 22 3193 c.3193G>A c.(3193-3195)GAA>AAA p.E1065K NM_017539 NP_060009 PHLPP2 23035 broad.mit.edu 37 16 71692340 71692340 + Intron SNP C G G 2012-705:2012-1310-T g.chr16:71692340C>G uc002fax.2 - PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Intron NM_015020 NP_055835 ABR 29 broad.mit.edu 37 17 1046281 1046282 + Intron DNP GC AT AT 2012-705:2012-1310-T g.chr17:1046281_1046282GC>AT uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 ABR 29 broad.mit.edu 37 17 1046325 1046325 + Intron SNP G A A 2012-705:2012-1310-T g.chr17:1046325G>A uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 USP6 9098 broad.mit.edu 37 17 5072225 5072225 + Missense_Mutation SNP C T T 2012-705:2012-1310-T g.chr17:5072225C>T uc002gau.1 + 35 5622 c.3392C>T c.(3391-3393)TCC>TTC p.S1131F USP6_uc002gav.1_Missense_Mutation_p.S1131F|USP6_uc010ckz.1_Missense_Mutation_p.S814F NM_004505 NP_004496 GAS7 8522 broad.mit.edu 37 17 9821388 9821388 + Missense_Mutation SNP A C C 2012-705:2012-1310-T g.chr17:9821388A>C uc002gmg.1 - 13 1408 c.1247T>G c.(1246-1248)GTA>GGA p.V416G GAS7_uc010vvc.1_Missense_Mutation_p.V230G|GAS7_uc002gmh.1_Missense_Mutation_p.V276G|GAS7_uc010vvd.1_Missense_Mutation_p.V368G|GAS7_uc002gmi.2_Missense_Mutation_p.V352G|GAS7_uc002gmj.1_Missense_Mutation_p.V356G|GAS7_uc010coh.1_Missense_Mutation_p.V356G NM_201433 NP_958839 MYH4 4622 broad.mit.edu 37 17 10348204 10348204 + Missense_Mutation SNP C T T 2012-705:2012-1310-T g.chr17:10348204C>T uc002gmn.2 - 38 5590 c.5479G>A c.(5479-5481)GAA>AAA p.E1827K uc002gml.1_Intron NM_017533 NP_060003 LRRC37B 114659 broad.mit.edu 37 17 30347986 30347986 + 5'Flank SNP G A A 2012-705:2012-1310-T g.chr17:30347986G>A uc002hgu.2 + LRRC37B_uc010wbx.1_Intron|LRRC37B_uc010csu.2_5'Flank NM_052888 NP_443120 KRT9 3857 broad.mit.edu 37 17 39723885 39723885 + Silent SNP A C C 2012-705:2012-1310-T g.chr17:39723885A>C uc002hxe.3 - 7 1578 c.1512T>G c.(1510-1512)GGT>GGG p.G504G JUP_uc010wfs.1_Intron NM_000226 NP_000217 STAT3 6774 broad.mit.edu 37 17 40477145 40477145 + Intron SNP A C C 2012-705:2012-1310-T g.chr17:40477145A>C uc002hzl.1 - STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron NM_139276 NP_644805 TUBG1 7283 broad.mit.edu 37 17 40761755 40761755 + 5'UTR SNP G T T 2012-705:2012-1310-T g.chr17:40761755G>T uc002ian.2 + 1 FAM134C_uc002ial.2_5'Flank|FAM134C_uc010wgq.1_5'Flank|FAM134C_uc002iam.1_5'Flank|FAM134C_uc010cyk.1_Intron NM_001070 NP_001061 TUBG1 7283 broad.mit.edu 37 17 40761954 40761954 + Intron SNP G T T 2012-705:2012-1310-T g.chr17:40761954G>T uc002ian.2 + FAM134C_uc002ial.2_5'Flank|FAM134C_uc010wgq.1_5'Flank|FAM134C_uc002iam.1_5'Flank|FAM134C_uc010cyk.1_Intron NM_001070 NP_001061 RAD51C 5889 broad.mit.edu 37 17 56780447 56780447 + Intron SNP G C C 2012-705:2012-1310-T g.chr17:56780447G>C uc002iwu.2 + RAD51C_uc010woa.1_Intron|RAD51C_uc010ddc.2_Intron|RAD51C_uc002iwv.2_Intron|RAD51C_uc002iww.2_Intron|RAD51C_uc010wob.1_Intron NM_058216 NP_478123 PRKCA 5578 broad.mit.edu 37 17 64795169 64795169 + Intron SNP G C C 2012-705:2012-1310-T g.chr17:64795169G>C uc002jfp.1 + NM_002737 NP_002728 RPTOR 57521 broad.mit.edu 37 17 78717901 78717901 + Intron SNP T G G rs139657129 2012-705:2012-1310-T g.chr17:78717901T>G uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 RPTOR 57521 broad.mit.edu 37 17 78718120 78718120 + Intron SNP C T T 2012-705:2012-1310-T g.chr17:78718120C>T uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 RPTOR 57521 broad.mit.edu 37 17 78814178 78814178 + Intron SNP G A A 2012-705:2012-1310-T g.chr17:78814178G>A uc002jyt.1 + RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 SLC16A3 9123 broad.mit.edu 37 17 80218368 80218368 + Intron SNP T G G 2012-705:2012-1310-T g.chr17:80218368T>G uc002kee.2 + CSNK1D_uc002kef.2_Intron|CSNK1D_uc002kei.2_Intron|CSNK1D_uc002kej.2_Intron|CSNK1D_uc010wvj.1_Intron NM_004207 NP_004198 C18orf1 753 broad.mit.edu 37 18 13262252 13262252 + Intron SNP T C C 2012-705:2012-1310-T g.chr18:13262252T>C uc002ksa.2 + C18orf1_uc002ksb.2_Intron NM_181481 NP_852146 ZNF521 25925 broad.mit.edu 37 18 22804434 22804434 + Missense_Mutation SNP C T T 2012-705:2012-1310-T g.chr18:22804434C>T uc002kvk.2 - 4 3695 c.3448G>A c.(3448-3450)GAA>AAA p.E1150K ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.E1150K|ZNF521_uc002kvl.2_Missense_Mutation_p.E930K NM_015461 NP_056276 KIAA0427 9811 broad.mit.edu 37 18 46257032 46257032 + Intron SNP G T T rs143821937 by1000genomes 2012-705:2012-1310-T g.chr18:46257032G>T uc002ldc.2 + KIAA0427_uc002ldd.2_Intron NM_014772 NP_055587 PHLPP1 23239 broad.mit.edu 37 18 60383407 60383407 + Intron SNP C T T 2012-705:2012-1310-T g.chr18:60383407C>T uc002lis.2 + NM_194449 NP_919431 MBP 4155 broad.mit.edu 37 18 74748264 74748264 + Intron SNP G A A 2012-705:2012-1310-T g.chr18:74748264G>A uc010xfd.1 - MBP_uc002lmr.2_Intron NM_001025101 NP_001020272 ATP9B 374868 broad.mit.edu 37 18 76905428 76905428 + Intron SNP G A A 2012-705:2012-1310-T g.chr18:76905428G>A uc002lmx.2 + ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Intron|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_Intron NM_198531 NP_940933 ATP9B 374868 broad.mit.edu 37 18 76906175 76906175 + Intron SNP C T T 2012-705:2012-1310-T g.chr18:76906175C>T uc002lmx.2 + ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Intron|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_Intron NM_198531 NP_940933 ATP9B 374868 broad.mit.edu 37 18 77087942 77087942 + Intron SNP C A A 2012-705:2012-1310-T g.chr18:77087942C>A uc002lmx.2 + ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Intron|ATP9B_uc002lmz.1_Intron NM_198531 NP_940933 NFATC1 4772 broad.mit.edu 37 18 77177743 77177743 + Intron SNP G C C 2012-705:2012-1310-T g.chr18:77177743G>C uc010xfg.1 + NFATC1_uc002lnc.1_Intron|NFATC1_uc010xff.1_Intron|NFATC1_uc002lnd.2_Intron|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfi.1_Intron|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Intron|NFATC1_uc002lng.2_Intron|NFATC1_uc010xfk.1_Intron NM_006162 NP_006153 FSTL3 10272 broad.mit.edu 37 19 682423 682423 + 3'UTR SNP G A A 2012-705:2012-1310-T g.chr19:682423G>A uc002lpk.1 + 5 FSTL3_uc010drt.1_RNA NM_005860 NP_005851 ARID3A 1820 broad.mit.edu 37 19 950140 950140 + Intron SNP C G G 2012-705:2012-1310-T g.chr19:950140C>G uc002lql.2 + NM_005224 NP_005215 DOHH 83475 broad.mit.edu 37 19 3491107 3491107 + 3'UTR SNP C T T 2012-705:2012-1310-T g.chr19:3491107C>T uc002lxs.2 - 5 DOHH_uc010xhl.1_3'UTR NM_031304 NP_112594 TPRX1 284355 broad.mit.edu 37 19 48305670 48305670 + Missense_Mutation SNP A G G 2012-705:2012-1310-T g.chr19:48305670A>G uc002php.1 - 2 669 c.598T>C c.(598-600)TCA>CCA p.S200P NM_198479 NP_940881 NLRP4 147945 broad.mit.edu 37 19 56362275 56362275 + Intron SNP C A A 2012-705:2012-1310-T g.chr19:56362275C>A uc002qmd.3 + NM_134444 NP_604393 NLRP4 147945 broad.mit.edu 37 19 56362675 56362675 + Intron SNP C A A 2012-705:2012-1310-T g.chr19:56362675C>A uc002qmd.3 + NM_134444 NP_604393 PEG3 5178 broad.mit.edu 37 19 57328216 57328216 + Missense_Mutation SNP G A A 2012-705:2012-1310-T g.chr19:57328216G>A uc002qnu.2 - 7 1945 c.1594C>T c.(1594-1596)CTT>TTT p.L532F ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.L503F|PEG3_uc002qnv.2_Missense_Mutation_p.L532F|PEG3_uc002qnw.2_Missense_Mutation_p.L408F|PEG3_uc002qnx.2_Missense_Mutation_p.L406F|PEG3_uc010etr.2_Missense_Mutation_p.L532F NM_001146186 NP_001139658 GALNT14 79623 broad.mit.edu 37 2 31165249 31165249 + Intron SNP G A A 2012-705:2012-1310-T g.chr2:31165249G>A uc002rnr.2 - GALNT14_uc002rnq.2_Intron|GALNT14_uc002rns.2_Intron|GALNT14_uc010ymr.1_Intron|GALNT14_uc010ezo.1_Intron|GALNT14_uc010ezp.1_Intron NM_024572 NP_078848 RMND5A 64795 broad.mit.edu 37 2 87643277 87643277 + Intron SNP T C C 2012-705:2012-1310-T g.chr2:87643277T>C uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87643286 87643286 + Intron SNP T G G 2012-705:2012-1310-T g.chr2:87643286T>G uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87644456 87644456 + Intron SNP G A A 2012-705:2012-1310-T g.chr2:87644456G>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87645983 87645983 + Intron SNP G C C 2012-705:2012-1310-T g.chr2:87645983G>C uc002srs.3 + PKP4 8502 broad.mit.edu 37 2 159519467 159519467 + Missense_Mutation SNP T G G 2012-705:2012-1310-T g.chr2:159519467T>G uc002tzv.2 + 14 2530 c.2270T>G c.(2269-2271)GTG>GGG p.V757G PKP4_uc002tzt.1_Missense_Mutation_p.V609G|PKP4_uc002tzu.2_Missense_Mutation_p.V757G|PKP4_uc002tzw.2_Missense_Mutation_p.V757G|PKP4_uc002tzx.2_Missense_Mutation_p.V414G|PKP4_uc002tzy.1_Missense_Mutation_p.V415G|PKP4_uc002uaa.2_Missense_Mutation_p.V609G|uc002uab.1_Intron|PKP4_uc002uac.2_5'UTR NM_003628 NP_003619 PKP4 8502 broad.mit.edu 37 2 159519473 159519473 + Missense_Mutation SNP A C C 2012-705:2012-1310-T g.chr2:159519473A>C uc002tzv.2 + 14 2536 c.2276A>C c.(2275-2277)CAG>CCG p.Q759P PKP4_uc002tzt.1_Missense_Mutation_p.Q611P|PKP4_uc002tzu.2_Missense_Mutation_p.Q759P|PKP4_uc002tzw.2_Missense_Mutation_p.Q759P|PKP4_uc002tzx.2_Missense_Mutation_p.Q416P|PKP4_uc002tzy.1_Missense_Mutation_p.Q417P|PKP4_uc002uaa.2_Missense_Mutation_p.Q611P|uc002uab.1_Intron|PKP4_uc002uac.2_5'UTR NM_003628 NP_003619 TTN 7273 broad.mit.edu 37 2 179434187 179434187 + Missense_Mutation SNP C T T 2012-705:2012-1310-T g.chr2:179434187C>T uc010zfg.1 - 275 69192 c.68968G>A c.(68968-68970)GAT>AAT p.D22990N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D16685N|TTN_uc010zfi.1_Missense_Mutation_p.D16618N|TTN_uc010zfj.1_Missense_Mutation_p.D16493N NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179451387 179451387 + Missense_Mutation SNP C T T 2012-705:2012-1310-T g.chr2:179451387C>T uc010zfg.1 - 257 56761 c.56537G>A c.(56536-56538)CGC>CAC p.R18846H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R12541H|TTN_uc010zfi.1_Missense_Mutation_p.R12474H|TTN_uc010zfj.1_Missense_Mutation_p.R12349H NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179552841 179552841 + Missense_Mutation SNP C T T 2012-705:2012-1310-T g.chr2:179552841C>T uc010zfg.1 - 124 28800 c.28576G>A c.(28576-28578)GAA>AAA p.E9526K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6187K|TTN_uc010fre.1_Intron NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179600240 179600240 + Missense_Mutation SNP C G G 2012-705:2012-1310-T g.chr2:179600240C>G uc010zfg.1 - 47 11425 c.11201G>C c.(11200-11202)AGA>ACA p.R3734T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R395T NM_133378 NP_596869 PMS1 5378 broad.mit.edu 37 2 190732730 190732730 + Intron SNP G A A 2012-705:2012-1310-T g.chr2:190732730G>A uc002urh.3 + PMS1_uc002urk.3_Intron|PMS1_uc002uri.3_Intron|PMS1_uc010zgc.1_Intron|PMS1_uc010zgd.1_Intron|PMS1_uc002urj.2_Intron|PMS1_uc010fry.1_Intron|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Intron|PMS1_uc002urm.2_Intron NM_000534 NP_000525 PAK7 57144 broad.mit.edu 37 20 9560947 9560947 + Nonsense_Mutation SNP G A A 2012-705:2012-1310-T g.chr20:9560947G>A uc002wnl.2 - 5 1380 c.835C>T c.(835-837)CAG>TAG p.Q279* PAK7_uc002wnk.2_Nonsense_Mutation_p.Q279*|PAK7_uc002wnj.2_Nonsense_Mutation_p.Q279*|PAK7_uc010gby.1_Nonsense_Mutation_p.Q279* NM_020341 NP_065074 C20orf26 26074 broad.mit.edu 37 20 20336082 20336082 + Intron SNP G C C 2012-705:2012-1310-T g.chr20:20336082G>C uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 TPTE 7179 broad.mit.edu 37 21 10998303 10998303 + RNA SNP C T T 2012-705:2012-1310-T g.chr21:10998303C>T uc002yis.1 - 11 c.1950G>A RUNX1 861 broad.mit.edu 37 21 36366015 36366015 + Intron SNP G C C 2012-705:2012-1310-T g.chr21:36366015G>C uc010gmu.2 - RUNX1_uc002yut.1_Intron|RUNX1_uc010gmv.2_Intron|RUNX1_uc002yuj.3_Intron|RUNX1_uc002yuk.3_Intron|RUNX1_uc002yum.1_Intron|RUNX1_uc010gmw.1_Intron NM_001754 NP_001745 CABIN1 23523 broad.mit.edu 37 22 24491993 24491993 + Missense_Mutation SNP G A A 2012-705:2012-1310-T g.chr22:24491993G>A uc002zzi.1 + 25 4013 c.3886G>A c.(3886-3888)GAA>AAA p.E1296K CABIN1_uc002zzj.1_Missense_Mutation_p.E1246K|CABIN1_uc002zzl.1_Missense_Mutation_p.E1296K NM_012295 NP_036427 XRCC6 2547 broad.mit.edu 37 22 42049478 42049478 + Intron SNP G C C 2012-705:2012-1310-T g.chr22:42049478G>C uc003bao.1 + XRCC6_uc003bap.1_Intron|XRCC6_uc011apc.1_Intron|XRCC6_uc003baq.1_Intron|XRCC6_uc003bar.1_Intron|XRCC6_uc003bas.1_Intron NM_001469 NP_001460 XRCC6 2547 broad.mit.edu 37 22 42049580 42049580 + Nonsense_Mutation SNP G T T 2012-705:2012-1310-T g.chr22:42049580G>T uc003bao.1 + 9 1247 c.1177G>T c.(1177-1179)GAG>TAG p.E393* XRCC6_uc003bap.1_Nonsense_Mutation_p.E352*|XRCC6_uc011apc.1_Nonsense_Mutation_p.E343*|XRCC6_uc003baq.1_Nonsense_Mutation_p.E393*|XRCC6_uc003bar.1_Nonsense_Mutation_p.E393*|XRCC6_uc003bas.1_Nonsense_Mutation_p.E343* NM_001469 NP_001460 XRCC6 2547 broad.mit.edu 37 22 42049658 42049658 + Missense_Mutation SNP G A A 2012-705:2012-1310-T g.chr22:42049658G>A uc003bao.1 + 9 1325 c.1255G>A c.(1255-1257)GAG>AAG p.E419K XRCC6_uc003bap.1_Missense_Mutation_p.E378K|XRCC6_uc011apc.1_Missense_Mutation_p.E369K|XRCC6_uc003baq.1_Missense_Mutation_p.E419K|XRCC6_uc003bar.1_Missense_Mutation_p.E419K|XRCC6_uc003bas.1_Missense_Mutation_p.E369K NM_001469 NP_001460 XRCC6 2547 broad.mit.edu 37 22 42049707 42049707 + Intron SNP G C C 2012-705:2012-1310-T g.chr22:42049707G>C uc003bao.1 + XRCC6_uc003bap.1_Intron|XRCC6_uc011apc.1_Intron|XRCC6_uc003baq.1_Intron|XRCC6_uc003bar.1_Intron|XRCC6_uc003bas.1_Intron NM_001469 NP_001460 XRCC6 2547 broad.mit.edu 37 22 42049725 42049725 + Intron SNP G A A 2012-705:2012-1310-T g.chr22:42049725G>A uc003bao.1 + XRCC6_uc003bap.1_Intron|XRCC6_uc011apc.1_Intron|XRCC6_uc003baq.1_Intron|XRCC6_uc003bar.1_Intron|XRCC6_uc003bas.1_Intron NM_001469 NP_001460 XRCC6 2547 broad.mit.edu 37 22 42049834 42049834 + Intron SNP G A A 2012-705:2012-1310-T g.chr22:42049834G>A uc003bao.1 + XRCC6_uc003bap.1_Intron|XRCC6_uc011apc.1_Intron|XRCC6_uc003baq.1_Intron|XRCC6_uc003bar.1_Intron|XRCC6_uc003bas.1_Intron NM_001469 NP_001460 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45196658 45196658 + Intron SNP C T T 2012-705:2012-1310-T g.chr22:45196658C>T uc003bfd.2 + PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|ARHGAP8_uc003bfi.2_Intron|ARHGAP8_uc010gzv.2_Intron|ARHGAP8_uc003bfj.2_Intron|ARHGAP8_uc003bfk.2_Intron|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron NM_181335 NP_851852 FANCD2 2177 broad.mit.edu 37 3 10123111 10123111 + Nonsense_Mutation SNP C T T 2012-705:2012-1310-T g.chr3:10123111C>T uc003buw.2 + 32 3265 c.3187C>T c.(3187-3189)CAG>TAG p.Q1063* FANCD2_uc003bux.1_Nonsense_Mutation_p.Q1063*|FANCD2_uc003buy.1_Nonsense_Mutation_p.Q1063*|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_3'UTR NM_033084 NP_149075 RAF1 5894 broad.mit.edu 37 3 12626582 12626582 + Intron SNP T C C 2012-705:2012-1310-T g.chr3:12626582T>C uc003bxf.3 - RAF1_uc011aut.1_Intron|RAF1_uc011auu.1_Intron NM_002880 NP_002871 CHCHD6 84303 broad.mit.edu 37 3 126581148 126581148 + Intron SNP T C C 2012-705:2012-1310-T g.chr3:126581148T>C uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 CHCHD6 84303 broad.mit.edu 37 3 126582300 126582300 + Intron SNP T C C 2012-705:2012-1310-T g.chr3:126582300T>C uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 EPHB3 2049 broad.mit.edu 37 3 184297318 184297318 + Missense_Mutation SNP G A A 2012-705:2012-1310-T g.chr3:184297318G>A uc003foz.2 + 10 2292 c.1855G>A c.(1855-1857)GAG>AAG p.E619K NM_004443 NP_004434 LPP 4026 broad.mit.edu 37 3 187942801 187942801 + Intron SNP C T T 2012-705:2012-1310-T g.chr3:187942801C>T uc003frs.1 + LPP_uc011bsg.1_Intron|LPP_uc011bsi.1_5'Flank NM_005578 NP_005569 MUC4 4585 broad.mit.edu 37 3 195502805 195502805 + Intron SNP G C C 2012-705:2012-1310-T g.chr3:195502805G>C uc011bto.1 - MUC4_uc003fuz.2_5'Flank|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 MAEA 10296 broad.mit.edu 37 4 1331283 1331283 + Intron SNP C T T 2012-705:2012-1310-T g.chr4:1331283C>T uc003gda.2 + MAEA_uc003gdb.2_Intron|MAEA_uc011bvb.1_Intron|MAEA_uc003gdc.2_Intron|MAEA_uc003gdd.2_Intron|MAEA_uc011bvc.1_Intron|MAEA_uc011bvd.1_Intron|MAEA_uc010ibt.2_Intron|MAEA_uc010ibu.2_Intron NM_001017405 NP_001017405 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C G G rs121913483 2012-705:2012-1310-T g.chr4:1803568C>G uc003gdr.3 + 7 1002 c.746C>G c.(745-747)TCC>TGC p.S249C FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C NM_000142 NP_000133 SORCS2 57537 broad.mit.edu 37 4 7455914 7455914 + Intron SNP G T T 2012-705:2012-1310-T g.chr4:7455914G>T uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 ANKRD17 26057 broad.mit.edu 37 4 74008120 74008120 + Intron SNP G T T 2012-705:2012-1310-T g.chr4:74008120G>T uc003hgp.2 - ANKRD17_uc003hgo.2_Intron|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Intron|ANKRD17_uc011cbd.1_Intron NM_032217 NP_115593 TET2 54790 broad.mit.edu 37 4 106067521 106067521 + 5'Flank SNP A C C 2012-705:2012-1310-T g.chr4:106067521A>C uc003hxk.2 + TET2_uc011cez.1_5'Flank|TET2_uc010ilp.1_5'Flank|TET2_uc003hxi.1_5'Flank NM_001127208 NP_001120680 FSTL5 56884 broad.mit.edu 37 4 162463806 162463806 + Missense_Mutation SNP C T T 2012-705:2012-1310-T g.chr4:162463806C>T uc003iqh.2 - 9 1491 c.1055G>A c.(1054-1056)AGA>AAA p.R352K FSTL5_uc003iqi.2_Missense_Mutation_p.R351K|FSTL5_uc010iqv.2_Missense_Mutation_p.R351K NM_020116 NP_064501 FAT1 2195 broad.mit.edu 37 4 187539252 187539252 + Nonsense_Mutation SNP G A A 2012-705:2012-1310-T g.chr4:187539252G>A uc003izf.2 - 10 8676 c.8488C>T c.(8488-8490)CAG>TAG p.Q2830* NM_005245 NP_005236 CEP72 55722 broad.mit.edu 37 5 650448 650448 + Intron SNP G A A 2012-705:2012-1310-T g.chr5:650448G>A uc003jbf.2 + NM_018140 NP_060610 TERT 7015 broad.mit.edu 37 5 1273218 1273218 + Intron SNP C T T rs144414026 by1000genomes 2012-705:2012-1310-T g.chr5:1273218C>T uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 SLC6A3 6531 broad.mit.edu 37 5 1422991 1422991 + Intron SNP G A A rs111248970 2012-705:2012-1310-T g.chr5:1422991G>A uc003jck.2 - NM_001044 NP_001035 TRIO 7204 broad.mit.edu 37 5 14271085 14271085 + Intron SNP A C C 2012-705:2012-1310-T g.chr5:14271085A>C uc003jff.2 + TRIO_uc003jfg.2_Intron|TRIO_uc011cna.1_Intron NM_007118 NP_009049 IL6ST 3572 broad.mit.edu 37 5 55272098 55272098 + Silent SNP C T T 2012-705:2012-1310-T g.chr5:55272098C>T uc003jqq.2 - 3 264 c.9G>A c.(7-9)ACG>ACA p.T3T IL6ST_uc010iwb.2_Silent_p.T3T|IL6ST_uc010iwc.2_Silent_p.T3T|IL6ST_uc010iwd.2_5'UTR|IL6ST_uc011cqk.1_5'UTR|IL6ST_uc003jqr.2_Silent_p.T3T|IL6ST_uc010iwf.1_RNA NM_002184 NP_002175 PIK3R1 5295 broad.mit.edu 37 5 67584733 67584733 + Intron SNP G A A 2012-705:2012-1310-T g.chr5:67584733G>A uc003jva.2 + PIK3R1_uc003jvb.2_Intron|PIK3R1_uc003jvc.2_Intron|PIK3R1_uc003jvd.2_5'Flank|PIK3R1_uc003jve.2_5'Flank NM_181523 NP_852664 PIK3R1 5295 broad.mit.edu 37 5 67591135 67591135 + Silent SNP G A A rs149090706 byFrequency 2012-705:2012-1310-T g.chr5:67591135G>A uc003jva.2 + 13 2288 c.1728G>A c.(1726-1728)ACG>ACA p.T576T PIK3R1_uc003jvb.2_Silent_p.T576T|PIK3R1_uc003jvc.2_Silent_p.T276T|PIK3R1_uc003jvd.2_Silent_p.T306T|PIK3R1_uc003jve.2_Silent_p.T255T|PIK3R1_uc011crb.1_Silent_p.T246T NM_181523 NP_852664 NRG2 9542 broad.mit.edu 37 5 139422604 139422604 + Silent SNP A C C 2012-705:2012-1310-T g.chr5:139422604A>C uc003lex.1 - 1 276 c.51T>G c.(49-51)GGT>GGG p.G17G NRG2_uc003lev.1_Silent_p.G17G|NRG2_uc003lew.1_Silent_p.G17G|NRG2_uc003ley.1_Silent_p.G17G NM_004883 NP_004874 NRG2 9542 broad.mit.edu 37 5 139422644 139422644 + Missense_Mutation SNP A C C 2012-705:2012-1310-T g.chr5:139422644A>C uc003lex.1 - 1 236 c.11T>G c.(10-12)GTT>GGT p.V4G NRG2_uc003lev.1_Missense_Mutation_p.V4G|NRG2_uc003lew.1_Missense_Mutation_p.V4G|NRG2_uc003ley.1_Missense_Mutation_p.V4G NM_004883 NP_004874 PCDHB11 56125 broad.mit.edu 37 5 140578827 140578827 + 5'Flank SNP C G G 2012-705:2012-1310-T g.chr5:140578827C>G uc003liy.2 + PCDHB11_uc011daj.1_5'Flank NM_018931 NP_061754 EBF1 1879 broad.mit.edu 37 5 158204535 158204535 + Missense_Mutation SNP G A A 2012-705:2012-1310-T g.chr5:158204535G>A uc010jip.2 - 10 1224 c.922C>T c.(922-924)CAT>TAT p.H308Y EBF1_uc011ddw.1_Missense_Mutation_p.H176Y|EBF1_uc011ddx.1_Missense_Mutation_p.H309Y|EBF1_uc003lxl.3_Missense_Mutation_p.H277Y NM_024007 NP_076870 NKAPL 222698 broad.mit.edu 37 6 28228020 28228020 + Missense_Mutation SNP G A A 2012-705:2012-1310-T g.chr6:28228020G>A uc003nkt.2 + 1 923 c.871G>A c.(871-873)GAA>AAA p.E291K ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 HLA-G 3135 broad.mit.edu 37 6 29894490 29894490 + Intron SNP G A A 2012-705:2012-1310-T g.chr6:29894490G>A uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HCG4P6_uc003noh.1_5'Flank|uc003noi.2_RNA NM_002127 NP_002118 AIM1 202 broad.mit.edu 37 6 106968620 106968620 + Silent SNP G A A 2012-705:2012-1310-T g.chr6:106968620G>A uc003prh.2 + 2 2800 c.2313G>A c.(2311-2313)CAG>CAA p.Q771Q NM_001624 NP_001615 SYNE1 23345 broad.mit.edu 37 6 152469231 152469231 + Missense_Mutation SNP C T T 2012-705:2012-1310-T g.chr6:152469231C>T uc010kiw.2 - 137 25527 c.24925G>A c.(24925-24927)GAA>AAA p.E8309K SYNE1_uc010kiv.2_Missense_Mutation_p.E2833K|SYNE1_uc003qos.3_Missense_Mutation_p.E2833K|SYNE1_uc003qot.3_Missense_Mutation_p.E8238K|SYNE1_uc003qou.3_Missense_Mutation_p.E8309K|SYNE1_uc003qop.3_Missense_Mutation_p.E471K|SYNE1_uc011eez.1_Missense_Mutation_p.E511K|SYNE1_uc003qoq.3_Missense_Mutation_p.E511K|SYNE1_uc003qor.3_Missense_Mutation_p.E1209K NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152949316 152949316 + Intron SNP G C C 2012-705:2012-1310-T g.chr6:152949316G>C uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qpa.1_Intron NM_182961 NP_892006 RPS6KA2 6196 broad.mit.edu 37 6 166863410 166863410 + Intron SNP C G G rs111344944 by1000genomes 2012-705:2012-1310-T g.chr6:166863410C>G uc003qvb.1 - RPS6KA2_uc011ego.1_Intron|RPS6KA2_uc010kkl.1_Intron|RPS6KA2_uc003qvc.1_Intron|RPS6KA2_uc003qvd.1_Intron NM_021135 NP_066958 RPS6KA2 6196 broad.mit.edu 37 6 166863432 166863433 + Intron DNP CA AG AG rs76921227;rs116506556 by1000genomes;by1000genomes 2012-705:2012-1310-T g.chr6:166863432_166863433CA>AG uc003qvb.1 - RPS6KA2_uc011ego.1_Intron|RPS6KA2_uc010kkl.1_Intron|RPS6KA2_uc003qvc.1_Intron|RPS6KA2_uc003qvd.1_Intron NM_021135 NP_066958 SMOC2 64094 broad.mit.edu 37 6 169012125 169012125 + Intron SNP G A A rs78348382 by1000genomes 2012-705:2012-1310-T g.chr6:169012125G>A uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 PKD1L1 168507 broad.mit.edu 37 7 47937641 47937641 + Missense_Mutation SNP T G G 2012-705:2012-1310-T g.chr7:47937641T>G uc003tny.1 - 14 2215 c.2215A>C c.(2215-2217)ACC>CCC p.T739P NM_138295 NP_612152 PCLO 27445 broad.mit.edu 37 7 82579243 82579243 + Nonsense_Mutation SNP G T T 2012-705:2012-1310-T g.chr7:82579243G>T uc003uhx.2 - 6 10950 c.10661C>A c.(10660-10662)TCA>TAA p.S3554* PCLO_uc003uhv.2_Nonsense_Mutation_p.S3554*|PCLO_uc010lec.2_Nonsense_Mutation_p.S519* NM_033026 NP_149015 ZNF804B 219578 broad.mit.edu 37 7 88965372 88965372 + Missense_Mutation SNP C T T 2012-705:2012-1310-T g.chr7:88965372C>T uc011khi.1 + 4 3614 c.3076C>T c.(3076-3078)CTT>TTT p.L1026F NM_181646 NP_857597 EMID2 136227 broad.mit.edu 37 7 101080744 101080744 + Intron SNP T G G 2012-705:2012-1310-T g.chr7:101080744T>G uc010lhy.1 + EMID2_uc003uyo.1_Intron NM_133457 NP_597714 GRM8 2918 broad.mit.edu 37 7 126079146 126079146 + 3'UTR SNP C G G 2012-705:2012-1310-T g.chr7:126079146C>G uc003vlr.2 - 10 GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_3'UTR|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 PLXNA4 91584 broad.mit.edu 37 7 132246115 132246115 + Intron SNP C T T 2012-705:2012-1310-T g.chr7:132246115C>T uc003vra.3 - PLXNA4_uc003vrc.2_Intron|PLXNA4_uc003vrb.2_Intron NM_020911 NP_065962 PTPRN2 5799 broad.mit.edu 37 7 157355857 157355857 + Intron SNP A G G 2012-705:2012-1310-T g.chr7:157355857A>G uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|PTPRN2_uc003wnn.2_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157392608 157392608 + Intron SNP T C C 2012-705:2012-1310-T g.chr7:157392608T>C uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157392799 157392799 + Intron SNP G C C 2012-705:2012-1310-T g.chr7:157392799G>C uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157640244 157640244 + Intron SNP G A A 2012-705:2012-1310-T g.chr7:157640244G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157851279 157851280 + Intron DNP GA CG CG 2012-705:2012-1310-T g.chr7:157851279_157851280GA>CG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158316744 158316744 + Intron SNP A T T 2012-705:2012-1310-T g.chr7:158316744A>T uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ARHGEF10 9639 broad.mit.edu 37 8 1779713 1779713 + Intron SNP C T T 2012-705:2012-1310-T g.chr8:1779713C>T uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 TEX15 56154 broad.mit.edu 37 8 30704937 30704937 + Missense_Mutation SNP C G G 2012-705:2012-1310-T g.chr8:30704937C>G uc003xil.2 - 1 1597 c.1597G>C c.(1597-1599)GAA>CAA p.E533Q NM_031271 NP_112561 RB1CC1 9821 broad.mit.edu 37 8 53627004 53627004 + 5'UTR SNP C G G 2012-705:2012-1310-T g.chr8:53627004C>G uc003xre.3 - 1 RB1CC1_uc003xrf.3_5'UTR NM_014781 NP_055596 ZFHX4 79776 broad.mit.edu 37 8 77767845 77767845 + Silent SNP C T T 2012-705:2012-1310-T g.chr8:77767845C>T uc003yav.2 + 10 8940 c.8553C>T c.(8551-8553)GCC>GCT p.A2851A ZFHX4_uc003yau.1_Silent_p.A2896A|ZFHX4_uc003yaw.1_Silent_p.A2851A NM_024721 NP_078997 ZFHX4 79776 broad.mit.edu 37 8 77767980 77767980 + Silent SNP C T T 2012-705:2012-1310-T g.chr8:77767980C>T uc003yav.2 + 10 9075 c.8688C>T c.(8686-8688)CTC>CTT p.L2896L ZFHX4_uc003yau.1_Silent_p.L2941L|ZFHX4_uc003yaw.1_Silent_p.L2896L NM_024721 NP_078997 PARP10 84875 broad.mit.edu 37 8 145055693 145055693 + Intron SNP C T T 2012-705:2012-1310-T g.chr8:145055693C>T uc003zal.3 - PARP10_uc003zak.3_Intron|PARP10_uc011lku.1_Intron|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Intron NM_032789 NP_116178 ARHGAP39 80728 broad.mit.edu 37 8 145786841 145786841 + Intron SNP T G G 2012-705:2012-1310-T g.chr8:145786841T>G uc003zdt.1 - ARHGAP39_uc011llk.1_Intron|ARHGAP39_uc003zds.1_Intron NM_025251 NP_079527 EXD3 54932 broad.mit.edu 37 9 140223195 140223195 + Intron SNP T C C 2012-705:2012-1310-T g.chr9:140223195T>C uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron NM_017820 NP_060290 CLCN4 1183 broad.mit.edu 37 X 10163169 10163169 + Intron SNP A C C 2012-705:2012-1310-T g.chrX:10163169A>C uc004csy.3 + CLCN4_uc011mid.1_Intron NM_001830 NP_001821 HEPH 9843 broad.mit.edu 37 X 65420239 65420239 + Intron SNP G T T 2012-705:2012-1310-T g.chrX:65420239G>T uc011moz.1 + HEPH_uc004dwn.2_Intron|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Intron|HEPH_uc010nks.2_5'Flank NM_138737 NP_620074 NKAP 79576 broad.mit.edu 37 X 119064025 119064025 + Missense_Mutation SNP C T T 2012-705:2012-1310-T g.chrX:119064025C>T uc004esh.2 - 8 1194 c.1027G>A c.(1027-1029)GAA>AAA p.E343K NKAP_uc004esg.2_Missense_Mutation_p.E230K NM_024528 NP_078804 SAMD11 148398 broad.mit.edu 37 1 869556 869556 + Intron SNP A G G 2012-706:2012-1311-T g.chr1:869556A>G uc001abw.1 + SAMD11_uc001abv.1_Intron|SAMD11_uc001abx.1_5'Flank NM_152486 NP_689699 SCNN1D 6339 broad.mit.edu 37 1 1224518 1224518 + Intron SNP T C C 2012-706:2012-1311-T g.chr1:1224518T>C uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 SCNN1D 6339 broad.mit.edu 37 1 1224576 1224576 + Intron SNP T C C 2012-706:2012-1311-T g.chr1:1224576T>C uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 PRDM16 63976 broad.mit.edu 37 1 3296284 3296284 + Intron SNP A G G 2012-706:2012-1311-T g.chr1:3296284A>G uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 PIK3CD 5293 broad.mit.edu 37 1 9784245 9784245 + Intron SNP T G G 2012-706:2012-1311-T g.chr1:9784245T>G uc001aqb.3 + PIK3CD_uc010oaf.1_Intron|PIK3CD_uc001aqe.3_Intron NM_005026 NP_005017 NBPF1 55672 broad.mit.edu 37 1 16908027 16908027 + Intron SNP C A A rs1020239 by1000genomes 2012-706:2012-1311-T g.chr1:16908027C>A uc009vos.1 - NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Intron NM_017940 NP_060410 NBPF1 55672 broad.mit.edu 37 1 16908045 16908045 + Intron SNP C T T 2012-706:2012-1311-T g.chr1:16908045C>T uc009vos.1 - NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Intron NM_017940 NP_060410 PRCC 5546 broad.mit.edu 37 1 156737216 156737216 + 5'Flank SNP C A A 2012-706:2012-1311-T g.chr1:156737216C>A uc001fqa.2 + PRCC_uc001fqb.2_5'Flank|HDGF_uc009wsf.2_5'Flank NM_005973 NP_005964 SPTA1 6708 broad.mit.edu 37 1 158644506 158644506 + Intron SNP G C C 2012-706:2012-1311-T g.chr1:158644506G>C uc001fst.1 - NM_003126 NP_003117 DDR2 4921 broad.mit.edu 37 1 162740212 162740212 + Missense_Mutation SNP G T T 2012-706:2012-1311-T g.chr1:162740212G>T uc001gcf.2 + 13 1879 c.1414G>T c.(1414-1416)GAT>TAT p.D472Y DDR2_uc001gcg.2_Missense_Mutation_p.D472Y NM_001014796 NP_001014796 ADARB2 105 broad.mit.edu 37 10 1282000 1282000 + Intron SNP T C C 2012-706:2012-1311-T g.chr10:1282000T>C uc009xhq.2 - NM_018702 NP_061172 ADARB2 105 broad.mit.edu 37 10 1382532 1382532 + Intron SNP G A A rs75891313 2012-706:2012-1311-T g.chr10:1382532G>A uc009xhq.2 - NM_018702 NP_061172 PRKG1 5592 broad.mit.edu 37 10 52834720 52834720 + Intron SNP C A A 2012-706:2012-1311-T g.chr10:52834720C>A uc001jjm.2 + PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron|PRKG1_uc010qhp.1_Intron NM_001098512 NP_001091982 KCNMA1 3778 broad.mit.edu 37 10 79279868 79279868 + Intron SNP G T T rs73284468 by1000genomes 2012-706:2012-1311-T g.chr10:79279868G>T uc001jxn.2 - KCNMA1_uc001jxj.2_Intron|KCNMA1_uc001jxo.2_Intron|KCNMA1_uc001jxm.2_Intron|KCNMA1_uc001jxq.2_Intron NM_001161352 NP_001154824 AHNAK 79026 broad.mit.edu 37 11 62287137 62287137 + Missense_Mutation SNP C A A 2012-706:2012-1311-T g.chr11:62287137C>A uc001ntl.2 - 5 15052 c.14752G>T c.(14752-14754)GCT>TCT p.A4918S AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 ERBB3 2065 broad.mit.edu 37 12 56473425 56473425 + 5'Flank SNP T G G 2012-706:2012-1311-T g.chr12:56473425T>G uc001sjh.2 + ERBB3_uc009zoj.2_5'Flank|ERBB3_uc010sqb.1_5'Flank|ERBB3_uc001sjg.2_5'Flank NM_001982 NP_001973 TMEM132D 121256 broad.mit.edu 37 12 129573075 129573075 + Intron SNP T C C 2012-706:2012-1311-T g.chr12:129573075T>C uc009zyl.1 - TMEM132D_uc001uia.2_5'Flank NM_133448 NP_597705 GALNT9 50614 broad.mit.edu 37 12 132880376 132880376 + Intron SNP C G G 2012-706:2012-1311-T g.chr12:132880376C>G uc001ukc.3 - GALNT9_uc009zys.2_Intron NM_001122636 NP_001116108 GRTP1 79774 broad.mit.edu 37 13 113984415 113984415 + Intron SNP T C C rs150266655 by1000genomes 2012-706:2012-1311-T g.chr13:113984415T>C uc001vtn.2 - GRTP1_uc010tkb.1_Intron|GRTP1_uc010tkc.1_Intron NM_024719 NP_078995 FANCM 57697 broad.mit.edu 37 14 45623285 45623285 + Intron SNP A G G 2012-706:2012-1311-T g.chr14:45623285A>G uc001wwd.3 + FANCM_uc001wwc.2_Intron|FANCM_uc010anf.2_Intron|FANCM_uc001wwe.3_5'Flank NM_020937 NP_065988 BCL11B 64919 broad.mit.edu 37 14 99723938 99723938 + Silent SNP T G G 2012-706:2012-1311-T g.chr14:99723938T>G uc001yga.2 - 2 564 c.297A>C c.(295-297)CCA>CCC p.P99P BCL11B_uc001ygb.2_Silent_p.P99P NM_138576 NP_612808 ATP10A 57194 broad.mit.edu 37 15 26003803 26003803 + Intron SNP C T T rs61994074 2012-706:2012-1311-T g.chr15:26003803C>T uc010ayu.2 - NM_024490 NP_077816 DECR2 26063 broad.mit.edu 37 16 458170 458170 + Intron SNP T C C 2012-706:2012-1311-T g.chr16:458170T>C uc002chb.2 + DECR2_uc002chc.2_Intron|DECR2_uc010bqv.2_Intron|DECR2_uc002chd.2_Intron|DECR2_uc002che.1_Intron NM_020664 NP_065715 DECR2 26063 broad.mit.edu 37 16 458184 458184 + Intron SNP T C C 2012-706:2012-1311-T g.chr16:458184T>C uc002chb.2 + DECR2_uc002chc.2_Intron|DECR2_uc010bqv.2_Intron|DECR2_uc002chd.2_Intron|DECR2_uc002che.1_Intron NM_020664 NP_065715 DECR2 26063 broad.mit.edu 37 16 458226 458226 + Intron SNP T C C 2012-706:2012-1311-T g.chr16:458226T>C uc002chb.2 + DECR2_uc002chc.2_Intron|DECR2_uc010bqv.2_Intron|DECR2_uc002chd.2_Intron|DECR2_uc002che.1_Intron NM_020664 NP_065715 HYDIN 54768 broad.mit.edu 37 16 70917705 70917705 + Intron SNP C T T rs11075804 2012-706:2012-1311-T g.chr16:70917705C>T uc002ezr.2 - NM_032821 NP_116210 RPH3AL 9501 broad.mit.edu 37 17 122825 122825 + Intron SNP C T T 2012-706:2012-1311-T g.chr17:122825C>T uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 RPH3AL 9501 broad.mit.edu 37 17 157153 157153 + Intron SNP T C C 2012-706:2012-1311-T g.chr17:157153T>C uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 NXN 64359 broad.mit.edu 37 17 795164 795164 + Intron SNP C T T 2012-706:2012-1311-T g.chr17:795164C>T uc002fsa.2 - NXN_uc002fsb.1_Intron NM_022463 NP_071908 TP53 7157 broad.mit.edu 37 17 7578550 7578550 + Missense_Mutation SNP G A A 2012-706:2012-1311-T g.chr17:7578550G>A uc002gim.2 - 5 574 c.380C>T c.(379-381)TCC>TTC p.S127F TP53_uc002gig.1_Missense_Mutation_p.S127F|TP53_uc002gih.2_Missense_Mutation_p.S127F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.S127F|TP53_uc010cni.1_Missense_Mutation_p.S127F|TP53_uc002gij.2_Missense_Mutation_p.S127F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.S34F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.S88F NM_001126112 NP_001119584 GAS7 8522 broad.mit.edu 37 17 9821388 9821388 + Missense_Mutation SNP A C C 2012-706:2012-1311-T g.chr17:9821388A>C uc002gmg.1 - 13 1408 c.1247T>G c.(1246-1248)GTA>GGA p.V416G GAS7_uc010vvc.1_Missense_Mutation_p.V230G|GAS7_uc002gmh.1_Missense_Mutation_p.V276G|GAS7_uc010vvd.1_Missense_Mutation_p.V368G|GAS7_uc002gmi.2_Missense_Mutation_p.V352G|GAS7_uc002gmj.1_Missense_Mutation_p.V356G|GAS7_uc010coh.1_Missense_Mutation_p.V356G NM_201433 NP_958839 10-Mar 162333 broad.mit.edu 37 17 60870112 60870112 + Intron SNP T C C 2012-706:2012-1311-T g.chr17:60870112T>C uc010ddr.2 - MARCH10_uc002jag.3_Intron|MARCH10_uc010dds.2_Intron|MARCH10_uc002jah.2_Intron NM_001100875 NP_001094345 PRKCA 5578 broad.mit.edu 37 17 64795160 64795160 + Intron SNP G A A 2012-706:2012-1311-T g.chr17:64795160G>A uc002jfp.1 + NM_002737 NP_002728 ABCA6 23460 broad.mit.edu 37 17 67087426 67087426 + Intron SNP T G G 2012-706:2012-1311-T g.chr17:67087426T>G uc002jhw.1 - NM_080284 NP_525023 TEX19 400629 broad.mit.edu 37 17 80318700 80318700 + Intron SNP T C C 2012-706:2012-1311-T g.chr17:80318700T>C uc002keq.2 + NM_207459 NP_997342 SIPA1L3 23094 broad.mit.edu 37 19 38687042 38687042 + Intron SNP A T T 2012-706:2012-1311-T g.chr19:38687042A>T uc002ohk.2 + NM_015073 NP_055888 NLRP4 147945 broad.mit.edu 37 19 56362633 56362633 + Intron SNP T G G 2012-706:2012-1311-T g.chr19:56362633T>G uc002qmd.3 + NM_134444 NP_604393 PXDN 7837 broad.mit.edu 37 2 1714936 1714936 + Intron SNP A C C 2012-706:2012-1311-T g.chr2:1714936A>C uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 MYT1L 23040 broad.mit.edu 37 2 2239931 2239931 + Intron SNP T C C 2012-706:2012-1311-T g.chr2:2239931T>C uc002qxe.2 - MYT1L_uc002qxd.2_Intron NM_015025 NP_055840 HPCAL1 3241 broad.mit.edu 37 2 10539414 10539414 + Intron SNP A T T 2012-706:2012-1311-T g.chr2:10539414A>T uc002raj.2 + HPCAL1_uc002rak.2_Intron|HPCAL1_uc002ral.2_Intron|HPCAL1_uc010exe.2_Intron|HPCAL1_uc010exf.2_Intron NM_002149 NP_002140 MSH6 2956 broad.mit.edu 37 2 48009694 48009694 + 5'Flank SNP G A A 2012-706:2012-1311-T g.chr2:48009694G>A uc002rwd.3 + MSH6_uc002rwc.2_5'Flank|MSH6_uc010fbj.2_5'Flank|MSH6_uc010yoi.1_5'Flank|MSH6_uc010yoj.1_5'Flank NM_000179 NP_000170 RMND5A 64795 broad.mit.edu 37 2 87644174 87644174 + Intron SNP G C C 2012-706:2012-1311-T g.chr2:87644174G>C uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87644219 87644219 + Intron SNP C A A rs144364835 by1000genomes 2012-706:2012-1311-T g.chr2:87644219C>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87651754 87651754 + Intron SNP C A A 2012-706:2012-1311-T g.chr2:87651754C>A uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87656503 87656503 + Intron SNP G T T rs144665595 by1000genomes 2012-706:2012-1311-T g.chr2:87656503G>T uc002srs.3 + STAT1 6772 broad.mit.edu 37 2 191879086 191879086 + 5'Flank SNP T G G 2012-706:2012-1311-T g.chr2:191879086T>G uc002usj.2 - STAT1_uc010fse.1_5'Flank|STAT1_uc002usk.2_5'Flank|STAT1_uc002usl.2_5'Flank|STAT1_uc010fsf.1_5'Flank NM_007315 NP_009330 PROKR2 128674 broad.mit.edu 37 20 5294664 5294664 + Nonsense_Mutation SNP G A A 2012-706:2012-1311-T g.chr20:5294664G>A uc010zqw.1 - 1 352 c.352C>T c.(352-354)CAG>TAG p.Q118* PROKR2_uc010zqx.1_Nonsense_Mutation_p.Q118*|PROKR2_uc010zqy.1_Nonsense_Mutation_p.Q118*|uc002wly.1_5'Flank NM_144773 NP_658986 CHRNA4 1137 broad.mit.edu 37 20 61985519 61985519 + Intron SNP C G G 2012-706:2012-1311-T g.chr20:61985519C>G uc002yes.2 - CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_Intron|CHRNA4_uc010gke.1_Intron|CHRNA4_uc002yev.1_Intron|CHRNA4_uc010gkf.1_Intron NM_000744 NP_000735 BAGE2 85319 broad.mit.edu 37 21 11021274 11021274 + Intron SNP G A A rs4627671 2012-706:2012-1311-T g.chr21:11021274G>A uc002yit.1 - TPTE_uc002yis.1_Intron NM_182482 NP_872288 AGPAT3 56894 broad.mit.edu 37 21 45354799 45354799 + Intron SNP T C C 2012-706:2012-1311-T g.chr21:45354799T>C uc002zdv.2 + AGPAT3_uc002zdw.2_Intron NM_020132 NP_064517 MICAL3 57553 broad.mit.edu 37 22 18359917 18359917 + Intron SNP T G G rs144471751 2012-706:2012-1311-T g.chr22:18359917T>G uc002zng.3 - MICAL3_uc011agl.1_Intron|MICAL3_uc002znh.2_Intron|MICAL3_uc002znj.1_Intron|MICAL3_uc002znk.1_Intron|MICAL3_uc002znl.1_Intron|MICAL3_uc002znm.2_Intron|MICAL3_uc010grf.2_Intron NM_015241 NP_056056 MICAL3 57553 broad.mit.edu 37 22 18360025 18360025 + Intron SNP T G G 2012-706:2012-1311-T g.chr22:18360025T>G uc002zng.3 - MICAL3_uc011agl.1_Intron|MICAL3_uc002znh.2_Intron|MICAL3_uc002znj.1_Intron|MICAL3_uc002znk.1_Intron|MICAL3_uc002znl.1_Intron|MICAL3_uc002znm.2_Intron|MICAL3_uc010grf.2_Intron NM_015241 NP_056056 MPPED1 758 broad.mit.edu 37 22 43891807 43891807 + Intron SNP A T T 2012-706:2012-1311-T g.chr22:43891807A>T uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 PLXNB2 23654 broad.mit.edu 37 22 50723734 50723734 + Intron SNP C T T 2012-706:2012-1311-T g.chr22:50723734C>T uc003bkv.3 - PLXNB2_uc003bku.1_5'Flank NM_012401 NP_036533 POLQ 10721 broad.mit.edu 37 3 121206953 121206953 + Nonsense_Mutation SNP C A A 2012-706:2012-1311-T g.chr3:121206953C>A uc003eee.3 - 16 4954 c.4825G>T c.(4825-4827)GGA>TGA p.G1609* POLQ_uc003eed.2_Nonsense_Mutation_p.G781* NM_199420 NP_955452 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A G G rs121913279 2012-706:2012-1311-T g.chr3:178952085A>G uc003fjk.2 + 21 3297 c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 SORCS2 57537 broad.mit.edu 37 4 7708230 7708230 + Intron SNP C T T 2012-706:2012-1311-T g.chr4:7708230C>T uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 TET2 54790 broad.mit.edu 37 4 106180951 106180951 + Intron SNP T C C 2012-706:2012-1311-T g.chr4:106180951T>C uc003hxk.2 + TET2_uc011cez.1_Intron|TET2_uc003hxj.2_Intron NM_001127208 NP_001120680 FAT4 79633 broad.mit.edu 37 4 126337733 126337733 + Missense_Mutation SNP A G G 2012-706:2012-1311-T g.chr4:126337733A>G uc003ifj.3 + 6 6974 c.6974A>G c.(6973-6975)GAA>GGA p.E2325G FAT4_uc011cgp.1_Missense_Mutation_p.E623G NM_024582 NP_078858 SLC10A7 84068 broad.mit.edu 37 4 147207664 147207664 + Intron SNP T C C rs112152015 2012-706:2012-1311-T g.chr4:147207664T>C uc010ioz.2 - SLC10A7_uc003ikr.2_Intron|SLC10A7_uc010ipa.2_Intron|SLC10A7_uc003iks.2_Intron NM_001029998 NP_001025169 SLC12A7 10723 broad.mit.edu 37 5 1098353 1098353 + Intron SNP A G G 2012-706:2012-1311-T g.chr5:1098353A>G uc003jbu.2 - NM_006598 NP_006589 NRG2 9542 broad.mit.edu 37 5 139422644 139422644 + Missense_Mutation SNP A C C 2012-706:2012-1311-T g.chr5:139422644A>C uc003lex.1 - 1 236 c.11T>G c.(10-12)GTT>GGT p.V4G NRG2_uc003lev.1_Missense_Mutation_p.V4G|NRG2_uc003lew.1_Missense_Mutation_p.V4G|NRG2_uc003ley.1_Missense_Mutation_p.V4G NM_004883 NP_004874 EBF1 1879 broad.mit.edu 37 5 158527089 158527089 + 5'Flank SNP C A A 2012-706:2012-1311-T g.chr5:158527089C>A uc010jip.2 - EBF1_uc011ddx.1_5'Flank|EBF1_uc003lxl.3_5'Flank|uc003lxm.1_5'Flank NM_024007 NP_076870 SMOC2 64094 broad.mit.edu 37 6 169015580 169015580 + Intron SNP C T T 2012-706:2012-1311-T g.chr6:169015580C>T uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 SMOC2 64094 broad.mit.edu 37 6 169016316 169016316 + Intron SNP C T T rs66476867 2012-706:2012-1311-T g.chr6:169016316C>T uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 SMOC2 64094 broad.mit.edu 37 6 169016335 169016335 + Intron SNP A G G 2012-706:2012-1311-T g.chr6:169016335A>G uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 PRKAR1B 5575 broad.mit.edu 37 7 638253 638253 + Intron SNP A C C 2012-706:2012-1311-T g.chr7:638253A>C uc003siu.1 - PRKAR1B_uc003siv.2_Intron|PRKAR1B_uc003siw.1_Intron|PRKAR1B_uc003six.1_Intron NM_002735 NP_002726 PRKAR1B 5575 broad.mit.edu 37 7 723843 723843 + Intron SNP A C C 2012-706:2012-1311-T g.chr7:723843A>C uc003siu.1 - PRKAR1B_uc003siv.2_Intron|PRKAR1B_uc003siw.1_Intron NM_002735 NP_002726 IQCE 23288 broad.mit.edu 37 7 2635477 2635477 + Intron SNP T C C 2012-706:2012-1311-T g.chr7:2635477T>C uc003smo.3 + IQCE_uc010ksm.1_Intron|IQCE_uc003sml.1_Intron|IQCE_uc011jvy.1_Intron|IQCE_uc011jvz.1_Intron|IQCE_uc003smk.3_Intron|IQCE_uc003smn.3_Intron NM_152558 NP_689771 IQCE 23288 broad.mit.edu 37 7 2635491 2635491 + Intron SNP A G G 2012-706:2012-1311-T g.chr7:2635491A>G uc003smo.3 + IQCE_uc010ksm.1_Intron|IQCE_uc003sml.1_Intron|IQCE_uc011jvy.1_Intron|IQCE_uc011jvz.1_Intron|IQCE_uc003smk.3_Intron|IQCE_uc003smn.3_Intron NM_152558 NP_689771 EGFR 1956 broad.mit.edu 37 7 55225381 55225381 + Silent SNP T G G 2012-706:2012-1311-T g.chr7:55225381T>G uc003tqk.2 + 11 1479 c.1233T>G c.(1231-1233)CCT>CCG p.P411P EGFR_uc003tqi.2_Silent_p.P411P|EGFR_uc003tqj.2_Silent_p.P411P|EGFR_uc010kzg.1_Silent_p.P366P|EGFR_uc011kco.1_Silent_p.P358P|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA NM_005228 NP_005219 ZNF804B 219578 broad.mit.edu 37 7 88963390 88963390 + Missense_Mutation SNP C A A 2012-706:2012-1311-T g.chr7:88963390C>A uc011khi.1 + 4 1632 c.1094C>A c.(1093-1095)GCT>GAT p.A365D NM_181646 NP_857597 PIK3CG 5294 broad.mit.edu 37 7 106508274 106508274 + Missense_Mutation SNP C T T 2012-706:2012-1311-T g.chr7:106508274C>T uc003vdv.3 + 2 353 c.268C>T c.(268-270)CGG>TGG p.R90W PIK3CG_uc003vdu.2_Missense_Mutation_p.R90W|PIK3CG_uc003vdw.2_Missense_Mutation_p.R90W NM_002649 NP_002640 PTPRN2 5799 broad.mit.edu 37 7 157373773 157373773 + Intron SNP G C C 2012-706:2012-1311-T g.chr7:157373773G>C uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157852051 157852051 + Intron SNP G A A 2012-706:2012-1311-T g.chr7:157852051G>A uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 DLGAP2 9228 broad.mit.edu 37 8 1643529 1643529 + Intron SNP A T T 2012-706:2012-1311-T g.chr8:1643529A>T uc003wpl.2 + DLGAP2_uc003wpm.2_Intron NM_004745 NP_004736 SOX7 83595 broad.mit.edu 37 8 10625241 10625241 + Intron SNP A G G rs9650658 by1000genomes 2012-706:2012-1311-T g.chr8:10625241A>G uc011kwz.1 - PINX1_uc003wth.2_Intron|PINX1_uc003wti.2_Intron NM_031439 NP_113627 ZNF395 55893 broad.mit.edu 37 8 28259119 28259119 + Intron SNP C G G 2012-706:2012-1311-T g.chr8:28259119C>G uc003xgt.2 - NM_018660 NP_061130 SLCO5A1 81796 broad.mit.edu 37 8 70747134 70747134 + 5'UTR SNP A G G 2012-706:2012-1311-T g.chr8:70747134A>G uc003xyl.2 - 1 SLCO5A1_uc010lzb.2_5'Flank|SLCO5A1_uc011lfa.1_5'Flank|SLCO5A1_uc003xyk.2_5'Flank|SLCO5A1_uc010lzc.2_5'Flank NM_030958 NP_112220 RIMS2 9699 broad.mit.edu 37 8 104513311 104513311 + Intron SNP T C C 2012-706:2012-1311-T g.chr8:104513311T>C uc003ylp.2 + NM_001100117 NP_001093587 PKHD1L1 93035 broad.mit.edu 37 8 110474217 110474217 + Intron SNP T A A 2012-706:2012-1311-T g.chr8:110474217T>A uc003yne.2 + NM_177531 NP_803875 TRAPPC9 83696 broad.mit.edu 37 8 140769146 140769146 + Intron SNP G A A 2012-706:2012-1311-T g.chr8:140769146G>A uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron NM_001160372 NP_001153844 TOP1MT 116447 broad.mit.edu 37 8 144405347 144405347 + Intron SNP G C C 2012-706:2012-1311-T g.chr8:144405347G>C uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 ADCK5 203054 broad.mit.edu 37 8 145596648 145596648 + 5'Flank SNP T G G 2012-706:2012-1311-T g.chr8:145596648T>G uc003zch.2 + ADCK5_uc003zcg.2_5'Flank NM_174922 NP_777582 ARHGAP39 80728 broad.mit.edu 37 8 145912457 145912457 + 5'Flank SNP C T T 2012-706:2012-1311-T g.chr8:145912457C>T uc011llk.1 - NM_025251 NP_079527 CDKN2A 1029 broad.mit.edu 37 9 21971029 21971029 + Nonsense_Mutation SNP C T T 2012-706:2012-1311-T g.chr9:21971029C>T uc003zpk.2 - 2 541 c.329G>A c.(328-330)TGG>TAG p.W110* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.L165L NM_000077 NP_000068 CDKN2A 1029 broad.mit.edu 37 9 21974753 21974753 + Missense_Mutation SNP A C C 2012-706:2012-1311-T g.chr9:21974753A>C uc003zpk.2 - 1 286 c.74T>G c.(73-75)GTA>GGA p.V25G MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.V25G|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 COL11A1 1301 broad.mit.edu 37 1 103354450 103354450 + Frame_Shift_Del DEL A - - 2011-2255:2012-373-T g.chr1:103354450delA uc001dul.2 - 60 4808 c.4490delT c.(4489-4491)TTAfs p.L1497fs COL11A1_uc001duk.2_Frame_Shift_Del_p.L693fs|COL11A1_uc001dum.2_Frame_Shift_Del_p.L1509fs|COL11A1_uc001dun.2_Frame_Shift_Del_p.L1458fs|COL11A1_uc009weh.2_Frame_Shift_Del_p.L1381fs NM_001854 NP_001845 FMN2 56776 broad.mit.edu 37 1 240348248 240348249 + Intron INS - C C rs150876511 by1000genomes 2011-2255:2012-373-T g.chr1:240348248_240348249insC uc010pyd.1 + FMN2_uc010pye.1_Intron NM_020066 NP_064450 JAKMIP3 282973 broad.mit.edu 37 10 133973923 133973924 + Intron INS - G G 2011-2255:2012-373-T g.chr10:133973923_133973924insG uc001lkx.3 + JAKMIP3_uc009yba.1_Intron NM_001105521 NP_001098991 SIGIRR 59307 broad.mit.edu 37 11 413688 413688 + Intron DEL T - - 2011-2255:2012-373-T g.chr11:413688delT uc001lpd.2 - SIGIRR_uc001lpf.2_Intron|SIGIRR_uc001lpe.1_Intron NM_001135054 NP_001128526 ATM 472 broad.mit.edu 37 11 108198249 108198250 + Intron INS - T T 2011-2255:2012-373-T g.chr11:108198249_108198250insT uc001pkb.1 + ATM_uc009yxr.1_Intron|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Intron|ATM_uc001pkg.1_Intron NM_000051 NP_000042 TMEM120B 144404 broad.mit.edu 37 12 122185990 122185991 + Intron DEL CA - - rs72024648;rs67603870 2011-2255:2012-373-T g.chr12:122185990_122185991delCA uc001ubc.3 + TMEM120B_uc009zxh.2_Intron NM_001080825 NP_001074294 ATP11A 23250 broad.mit.edu 37 13 113482426 113482427 + Intron INS - A A rs11374222 2011-2255:2012-373-T g.chr13:113482426_113482427insA uc001vsi.3 + ATP11A_uc001vsj.3_Intron|ATP11A_uc001vsm.1_Intron NM_015205 NP_056020 RPTOR 57521 broad.mit.edu 37 17 78608346 78608347 + Intron INS - GC GC 2011-2255:2012-373-T g.chr17:78608346_78608347insGC uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 SBNO2 22904 broad.mit.edu 37 19 1164822 1164822 + Intron DEL G - - 2011-2255:2012-373-T g.chr19:1164822delG uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 RMND5A 64795 broad.mit.edu 37 2 87623776 87623776 + Intron DEL A - - 2011-2255:2012-373-T g.chr2:87623776delA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87646437 87646437 + Intron DEL A - - 2011-2255:2012-373-T g.chr2:87646437delA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87719726 87719726 + Intron DEL C - - 2011-2255:2012-373-T g.chr2:87719726delC uc002srs.3 + SNPH 9751 broad.mit.edu 37 20 1258548 1258549 + Intron DEL TG - - 2011-2255:2012-373-T g.chr20:1258548_1258549delTG uc002wes.2 + SNPH_uc002wet.2_Intron NM_014723 NP_055538 HNF4A 3172 broad.mit.edu 37 20 43033747 43033748 + Intron INS - A A 2011-2255:2012-373-T g.chr20:43033747_43033748insA uc002xma.2 + HNF4A_uc010zwo.1_Intron|HNF4A_uc002xlt.2_Intron|HNF4A_uc002xlu.2_Intron|HNF4A_uc002xlv.2_Intron|uc002xlw.1_5'Flank|HNF4A_uc002xly.2_Intron|HNF4A_uc002xlz.2_Intron|HNF4A_uc010ggq.2_Intron NM_000457 NP_000448 HNF4A 3172 broad.mit.edu 37 20 43033748 43033749 + Intron INS - T T 2011-2255:2012-373-T g.chr20:43033748_43033749insT uc002xma.2 + HNF4A_uc010zwo.1_Intron|HNF4A_uc002xlt.2_Intron|HNF4A_uc002xlu.2_Intron|HNF4A_uc002xlv.2_Intron|uc002xlw.1_5'Flank|HNF4A_uc002xly.2_Intron|HNF4A_uc002xlz.2_Intron|HNF4A_uc010ggq.2_Intron NM_000457 NP_000448 FAM83F 113828 broad.mit.edu 37 22 40403418 40403420 + Intron DEL CTG - - rs115820465 by1000genomes 2011-2255:2012-373-T g.chr22:40403418_40403420delCTG uc003ayk.1 + NM_138435 NP_612444 MPPED1 758 broad.mit.edu 37 22 43828536 43828539 + Intron DEL ATAA - - rs117522641 by1000genomes 2011-2255:2012-373-T g.chr22:43828536_43828539delATAA uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 MPPED1 758 broad.mit.edu 37 22 43828543 43828544 + Intron INS - A A 2011-2255:2012-373-T g.chr22:43828543_43828544insA uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 FAM19A5 25817 broad.mit.edu 37 22 49074857 49074857 + Intron DEL A - - 2011-2255:2012-373-T g.chr22:49074857delA uc003bim.3 + FAM19A5_uc003bio.3_Intron NM_001082967 NP_001076436 FAM19A5 25817 broad.mit.edu 37 22 49074859 49074865 + Intron DEL CTCCCCC - - rs147283505 by1000genomes 2011-2255:2012-373-T g.chr22:49074859_49074865delCTCCCCC uc003bim.3 + FAM19A5_uc003bio.3_Intron NM_001082967 NP_001076436 CHCHD6 84303 broad.mit.edu 37 3 126581270 126581272 + Intron DEL CCT - - 2011-2255:2012-373-T g.chr3:126581270_126581272delCCT uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 HERC3 8916 broad.mit.edu 37 4 89620124 89620125 + Intron INS - C C rs137990789;rs66939344 by1000genomes 2011-2255:2012-373-T g.chr4:89620124_89620125insC uc003hrw.1 + HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron|NAP1L5_uc003hrx.2_5'Flank NM_014606 NP_055421 CEP72 55722 broad.mit.edu 37 5 650334 650335 + Intron DEL TG - - 2011-2255:2012-373-T g.chr5:650334_650335delTG uc003jbf.2 + NM_018140 NP_060610 UNC5A 90249 broad.mit.edu 37 5 176299551 176299551 + Intron DEL G - - rs58614182 2011-2255:2012-373-T g.chr5:176299551delG uc003mey.2 + UNC5A_uc010jkg.1_Intron NM_133369 NP_588610 MAD1L1 8379 broad.mit.edu 37 7 2035906 2035906 + Intron DEL C - - rs68072290 2011-2255:2012-373-T g.chr7:2035906delC uc003slh.1 - MAD1L1_uc003sle.1_Intron|MAD1L1_uc003slf.1_Intron|MAD1L1_uc003slg.1_Intron|MAD1L1_uc010ksh.1_Intron|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Intron|MAD1L1_uc010ksj.2_Intron NM_001013836 NP_001013858 PTPRN2 5799 broad.mit.edu 37 7 157878336 157878337 + Intron DEL AG - - 2011-2255:2012-373-T g.chr7:157878336_157878337delAG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 SEMA4D 10507 broad.mit.edu 37 9 92038703 92038712 + Intron DEL TGCCTCCCCT - - 2011-2255:2012-373-T g.chr9:92038703_92038712delTGCCTCCCCT uc004aqo.1 - SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Intron NM_006378 NP_006369 TTF1 7270 broad.mit.edu 37 9 135252932 135252933 + Intron DEL GT - - 2011-2255:2012-373-T g.chr9:135252932_135252933delGT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 NOTCH1 4851 broad.mit.edu 37 9 139403455 139403455 + Frame_Shift_Del DEL A - - 2011-2255:2012-373-T g.chr9:139403455delA uc004chz.2 - 19 3038 c.3038delT c.(3037-3039)TTCfs p.F1013fs NOTCH1_uc004cia.1_Frame_Shift_Del_p.F243fs NM_017617 NP_060087 EHMT1 79813 broad.mit.edu 37 9 140615677 140615677 + Intron DEL C - - 2011-2255:2012-373-T g.chr9:140615677delC uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 DIP2C 22982 broad.mit.edu 37 10 578482 578483 + Intron INS - GA GA rs149618724;rs34964227 2011-2257:2012-329-T g.chr10:578482_578483insGA uc001ifp.2 - NM_014974 NP_055789 IDI1 3422 broad.mit.edu 37 10 1093430 1093436 + Intron DEL ACTGTCT - - 2011-2257:2012-329-T g.chr10:1093430_1093436delACTGTCT uc001iga.2 - IDI1_uc001ifz.2_5'Flank|IDI1_uc001igb.2_Intron|IDI1_uc001igc.2_Intron|uc001igd.2_5'Flank NM_004508 NP_004499 CACNA1C 775 broad.mit.edu 37 12 2546971 2546973 + Intron DEL TGA - - 2011-2257:2012-329-T g.chr12:2546971_2546973delTGA uc009zdu.1 + CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc001qkj.1_Intron|CACNA1C_uc001qkk.1_Intron|CACNA1C_uc001qkm.1_Intron NM_199460 NP_955630 TMEM132B 114795 broad.mit.edu 37 12 125894186 125894187 + Intron INS - T T rs67331620;rs149632537 2011-2257:2012-329-T g.chr12:125894186_125894187insT uc001uhe.1 + NM_052907 NP_443139 ATP12A 479 broad.mit.edu 37 13 25256475 25256476 + Intron DEL GT - - 2011-2257:2012-329-T g.chr13:25256475_25256476delGT uc001upp.2 + ATP12A_uc010aaa.2_Intron NM_001676 NP_001667 GPC5 2262 broad.mit.edu 37 13 92050908 92050913 + 5'Flank DEL GGCGGA - - rs67775819 2011-2257:2012-329-T g.chr13:92050908_92050913delGGCGGA uc010tif.1 + NM_004466 NP_004457 MCF2L 23263 broad.mit.edu 37 13 113683202 113683203 + Intron DEL GT - - 2011-2257:2012-329-T g.chr13:113683202_113683203delGT uc001vsu.2 + MCF2L_uc001vsq.2_Intron|MCF2L_uc010tjr.1_Intron|MCF2L_uc001vsr.2_Intron|MCF2L_uc001vss.3_Intron|MCF2L_uc010tjs.1_Intron NM_001112732 NP_001106203 EIF3CL 728689 broad.mit.edu 37 16 28739818 28739819 + Intron DEL GT - - 2011-2257:2012-329-T g.chr16:28739818_28739819delGT uc010byj.2 + uc010vct.1_Intron|EIF3CL_uc010byi.2_Intron|EIF3CL_uc002dqs.3_Intron|EIF3C_uc002dqt.3_Intron|EIF3CL_uc010vcy.1_Intron|EIF3C_uc002dqu.3_Intron|EIF3CL_uc002dqv.3_Intron NM_001099661 NP_001093131 NLRC5 84166 broad.mit.edu 37 16 57104775 57104776 + Intron INS - GT GT 2011-2257:2012-329-T g.chr16:57104775_57104776insGT uc002ekk.1 + NLRC5_uc010ccr.1_Intron|NLRC5_uc010ccs.1_Intron|NLRC5_uc002eko.1_Intron|NLRC5_uc002ekq.1_Intron|NLRC5_uc002ekr.1_Intron NM_032206 NP_115582 DPEP1 1800 broad.mit.edu 37 16 89701172 89701172 + Intron DEL T - - rs138456393 2011-2257:2012-329-T g.chr16:89701172delT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 PIAS4 51588 broad.mit.edu 37 19 4035757 4035764 + Intron DEL CACACACC - - rs112609500 2011-2257:2012-329-T g.chr19:4035757_4035764delCACACACC uc002lzg.2 + NM_015897 NP_056981 GP6 51206 broad.mit.edu 37 19 55535685 55535686 + Intron DEL CA - - rs72485414 2011-2257:2012-329-T g.chr19:55535685_55535686delCA uc002qik.2 - GP6_uc002qil.2_Intron|GP6_uc010esq.2_Intron NM_016363 NP_057447 PXDN 7837 broad.mit.edu 37 2 1723984 1723985 + Intron INS - GAGAGAGAGG GAGAGAGAGG 2011-2257:2012-329-T g.chr2:1723984_1723985insGAGAGAGAGG uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 MLPH 79083 broad.mit.edu 37 2 238452651 238452652 + Intron INS - A A 2011-2257:2012-329-T g.chr2:238452651_238452652insA uc002vwt.2 + MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Intron|MLPH_uc002vwu.2_Intron|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Intron|MLPH_uc010fyu.2_Intron NM_024101 NP_077006 BAGE2 85319 broad.mit.edu 37 21 11043037 11043039 + Intron DEL TGC - - rs149525628;rs60709265 2011-2257:2012-329-T g.chr21:11043037_11043039delTGC uc002yit.1 - NM_182482 NP_872288 STK10 6793 broad.mit.edu 37 5 171503281 171503282 + Intron INS - T T 2011-2257:2012-329-T g.chr5:171503281_171503282insT uc003mbo.1 - NM_005990 NP_005981 HMP19 51617 broad.mit.edu 37 5 173524635 173524636 + Intron DEL TG - - 2011-2257:2012-329-T g.chr5:173524635_173524636delTG uc003mcx.2 + HMP19_uc011dfh.1_Intron NM_015980 NP_057064 RAPGEF1 2889 broad.mit.edu 37 9 134462527 134462530 + Intron DEL ACAC - - 2011-2257:2012-329-T g.chr9:134462527_134462530delACAC uc004cbc.2 - RAPGEF1_uc004cbb.2_Intron NM_005312 NP_005303 KCNT1 57582 broad.mit.edu 37 9 138666290 138666291 + Intron INS - GT GT rs72103332 2011-2257:2012-329-T g.chr9:138666290_138666291insGT uc011mdq.1 + KCNT1_uc011mdr.1_Intron|KCNT1_uc010nbf.2_Intron|KCNT1_uc004cgo.1_Intron NM_020822 NP_065873 EXD3 54932 broad.mit.edu 37 9 140249951 140249952 + Intron INS - G G rs143208480 2011-2257:2012-329-T g.chr9:140249951_140249952insG uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron|EXD3_uc004cmq.1_Intron|EXD3_uc010ncg.1_Intron NM_017820 NP_060290 IL3RA 3563 broad.mit.edu 37 X 1479913 1479914 + Intron DEL TG - - 2011-2257:2012-329-T g.chrX:1479913_1479914delTG uc004cps.2 + IL3RA_uc011mhd.1_Intron NM_002183 NP_002174 PDE4DIP 9659 broad.mit.edu 37 1 144871804 144871806 + In_Frame_Del DEL GCA - - rs143672177 2011-2259:2012-1326-T g.chr1:144871804_144871806delGCA uc001elw.3 - 32 5447_5449 c.5156_5158delTGC c.(5155-5160)CTGCCT>CCT p.L1719del NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_In_Frame_Del_p.L726del NM_014644 NP_055459 SHANK2 22941 broad.mit.edu 37 11 70633756 70633758 + Intron DEL CAC - - 2011-2259:2012-1326-T g.chr11:70633756_70633758delCAC uc001oqc.2 - NM_012309 NP_036441 CACNG7 59284 broad.mit.edu 37 19 54425049 54425049 + Intron DEL T - - 2011-2259:2012-1326-T g.chr19:54425049delT uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 AGAP1 116987 broad.mit.edu 37 2 236711374 236711375 + Intron INS - TGA TGA 2011-2259:2012-1326-T g.chr2:236711374_236711375insTGA uc002vvs.2 + AGAP1_uc002vvt.2_Intron NM_001037131 NP_001032208 MPPED1 758 broad.mit.edu 37 22 43828758 43828759 + Intron INS - AA AA 2011-2259:2012-1326-T g.chr22:43828758_43828759insAA uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45197085 45197086 + Intron INS - G G 2011-2259:2012-1326-T g.chr22:45197085_45197086insG uc003bfd.2 + PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|ARHGAP8_uc003bfi.2_Intron|ARHGAP8_uc010gzv.2_Intron|ARHGAP8_uc003bfj.2_Intron|ARHGAP8_uc003bfk.2_Intron|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron NM_181335 NP_851852 SLC9A3 6550 broad.mit.edu 37 5 487624 487628 + Intron DEL GTGAT - - 2011-2259:2012-1326-T g.chr5:487624_487628delGTGAT uc003jbe.2 - SLC9A3_uc011clx.1_Intron NM_004174 NP_004165 SLC9A3 6550 broad.mit.edu 37 5 487630 487632 + Intron DEL CAG - - rs112087391 2011-2259:2012-1326-T g.chr5:487630_487632delCAG uc003jbe.2 - SLC9A3_uc011clx.1_Intron NM_004174 NP_004165 SHOX 6473 broad.mit.edu 37 X 583559 583560 + 5'Flank INS - AG AG 2011-2259:2012-1326-T g.chrX:583559_583560insAG uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 PRKCZ 5590 broad.mit.edu 37 1 2086882 2086884 + Intron DEL TGA - - 2011-2260:2012-1319-T g.chr1:2086882_2086884delTGA uc001aiq.2 + PRKCZ_uc001air.2_Intron|PRKCZ_uc010nyw.1_Intron|PRKCZ_uc001ais.2_Intron|PRKCZ_uc009vla.2_Intron|PRKCZ_uc010nyx.1_Intron|PRKCZ_uc009vlb.2_Intron NM_002744 NP_002735 LGR6 59352 broad.mit.edu 37 1 202173671 202173672 + Intron INS - AC AC rs142174158 by1000genomes 2011-2260:2012-1319-T g.chr1:202173671_202173672insAC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 PZP 5858 broad.mit.edu 37 12 9313518 9313518 + Intron DEL T - - rs7972015 by1000genomes 2011-2260:2012-1319-T g.chr12:9313518delT uc001qvl.2 - PZP_uc009zgl.2_Intron|PZP_uc010sgo.1_Intron NM_002864 NP_002855 EPS8 2059 broad.mit.edu 37 12 15776224 15776224 + Intron DEL A - - 2011-2260:2012-1319-T g.chr12:15776224delA uc009zif.2 - EPS8_uc001rdb.2_Intron|EPS8_uc009zig.2_Intron|EPS8_uc010shv.1_Intron NM_004447 NP_004438 ERBB3 2065 broad.mit.edu 37 12 56492739 56492740 + Intron INS - T T 2011-2260:2012-1319-T g.chr12:56492739_56492740insT uc001sjh.2 + ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Intron|ERBB3_uc009zok.2_Intron|ERBB3_uc001sjk.2_Intron|ERBB3_uc001sjl.2_Intron NM_001982 NP_001973 GRK1 6011 broad.mit.edu 37 13 114430917 114430919 + Intron DEL GAG - - 2011-2260:2012-1319-T g.chr13:114430917_114430919delGAG uc010tkf.1 + NM_002929 NP_002920 SYNE2 23224 broad.mit.edu 37 14 64685826 64685827 + Intron INS - TG TG rs33992127 2011-2260:2012-1319-T g.chr14:64685826_64685827insTG uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_Intron|SYNE2_uc010tsi.1_Intron|SYNE2_uc001xgs.2_Intron|SYNE2_uc001xgt.2_Intron NM_015180 NP_055995 KIAA0284 283638 broad.mit.edu 37 14 105338675 105338676 + Intron INS - C C 2011-2260:2012-1319-T g.chr14:105338675_105338676insC uc010axb.2 + INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Intron NM_001112726 NP_001106197 KIAA0284 283638 broad.mit.edu 37 14 105338684 105338685 + Intron INS - GCC GCC 2011-2260:2012-1319-T g.chr14:105338684_105338685insGCC uc010axb.2 + INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Intron NM_001112726 NP_001106197 KIAA0284 283638 broad.mit.edu 37 14 105338695 105338697 + Intron DEL GCC - - 2011-2260:2012-1319-T g.chr14:105338695_105338697delGCC uc010axb.2 + INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Intron NM_001112726 NP_001106197 LMF1 64788 broad.mit.edu 37 16 908566 908567 + Intron INS - C C 2011-2260:2012-1319-T g.chr16:908566_908567insC uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 908589 908590 + Intron INS - C C 2011-2260:2012-1319-T g.chr16:908589_908590insC uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 908845 908846 + Intron INS - C C 2011-2260:2012-1319-T g.chr16:908845_908846insC uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 908897 908898 + Intron DEL GT - - 2011-2260:2012-1319-T g.chr16:908897_908898delGT uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 ATP9B 374868 broad.mit.edu 37 18 77005912 77005914 + Intron DEL CTA - - rs74214905 2011-2260:2012-1319-T g.chr18:77005912_77005914delCTA uc002lmx.2 + ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Intron|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_Intron NM_198531 NP_940933 CNN2 1265 broad.mit.edu 37 19 1035161 1035162 + Intron INS - AC AC rs71696411 2011-2260:2012-1319-T g.chr19:1035161_1035162insAC uc002lqu.2 + CNN2_uc002lqt.1_Intron|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.2_Intron|CNN2_uc010xgb.1_Intron|CNN2_uc010xgc.1_Intron NM_004368 NP_004359 PXDN 7837 broad.mit.edu 37 2 1715371 1715372 + Intron DEL CT - - rs72180694 2011-2260:2012-1319-T g.chr2:1715371_1715372delCT uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 RMND5A 64795 broad.mit.edu 37 2 87643612 87643613 + Intron INS - A A 2011-2260:2012-1319-T g.chr2:87643612_87643613insA uc002srs.3 + KIF1A 547 broad.mit.edu 37 2 241720199 241720200 + Intron INS - CAGCTC CAGCTC 2011-2260:2012-1319-T g.chr2:241720199_241720200insCAGCTC uc002vzy.2 - KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron NM_004321 NP_004312 C20orf26 26074 broad.mit.edu 37 20 20338614 20338615 + Intron DEL GT - - 2011-2260:2012-1319-T g.chr20:20338614_20338615delGT uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 MKL1 57591 broad.mit.edu 37 22 40982908 40982910 + Intron DEL TGC - - 2011-2260:2012-1319-T g.chr22:40982908_40982910delTGC uc003ayw.1 - MKL1_uc010gye.1_Intron|MKL1_uc010gyf.1_Intron|MKL1_uc003ayy.1_Intron NM_020831 NP_065882 FSTL5 56884 broad.mit.edu 37 4 163085748 163085749 + 5'Flank INS - A A rs111750358;rs71858319 2011-2260:2012-1319-T g.chr4:163085748_163085749insA uc003iqh.2 - FSTL5_uc003iqi.2_5'Flank|FSTL5_uc010iqv.2_5'Flank NM_020116 NP_064501 FAT1 2195 broad.mit.edu 37 4 187540331 187540331 + Frame_Shift_Del DEL C - - 2011-2260:2012-1319-T g.chr4:187540331delC uc003izf.2 - 10 7597 c.7409delG c.(7408-7410)GGAfs p.G2470fs NM_005245 NP_005236 CEP72 55722 broad.mit.edu 37 5 648652 648653 + Intron INS - G G rs71781429 2011-2260:2012-1319-T g.chr5:648652_648653insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649327 649327 + Intron DEL G - - rs72165424 2011-2260:2012-1319-T g.chr5:649327delG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649353 649354 + Intron INS - G G 2011-2260:2012-1319-T g.chr5:649353_649354insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649366 649366 + Intron DEL T - - 2011-2260:2012-1319-T g.chr5:649366delT uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649646 649646 + Intron DEL G - - 2011-2260:2012-1319-T g.chr5:649646delG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650284 650285 + Intron INS - TG TG 2011-2260:2012-1319-T g.chr5:650284_650285insTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650292 650293 + Intron INS - G G 2011-2260:2012-1319-T g.chr5:650292_650293insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650295 650296 + Intron INS - TG TG 2011-2260:2012-1319-T g.chr5:650295_650296insTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650411 650412 + Intron INS - G G 2011-2260:2012-1319-T g.chr5:650411_650412insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650603 650603 + Intron DEL G - - 2011-2260:2012-1319-T g.chr5:650603delG uc003jbf.2 + NM_018140 NP_060610 RASA1 5921 broad.mit.edu 37 5 86629062 86629062 + Intron DEL T - - 2011-2260:2012-1319-T g.chr5:86629062delT uc003kiw.2 + RASA1_uc010jav.2_Intron|RASA1_uc003kix.2_Intron|RASA1_uc011ctv.1_Intron|RASA1_uc011ctw.1_Intron|RASA1_uc010jaw.2_Intron NM_002890 NP_002881 RELN 5649 broad.mit.edu 37 7 103270630 103270630 + Intron DEL A - - 2011-2260:2012-1319-T g.chr7:103270630delA uc003vca.2 - RELN_uc010liz.2_Intron NM_005045 NP_005036 PTPRN2 5799 broad.mit.edu 37 7 157337649 157337650 + Intron DEL TG - - rs145603735 2011-2260:2012-1319-T g.chr7:157337649_157337650delTG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|PTPRN2_uc003wnn.2_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157863285 157863286 + Intron INS - CA CA 2011-2260:2012-1319-T g.chr7:157863285_157863286insCA uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc003wnt.1_5'Flank NM_002847 NP_002838 POMT1 10585 broad.mit.edu 37 9 134391531 134391534 + Intron DEL CTAA - - 2011-2260:2012-1319-T g.chr9:134391531_134391534delCTAA uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 POMT1 10585 broad.mit.edu 37 9 134391538 134391539 + Intron INS - G G 2011-2260:2012-1319-T g.chr9:134391538_134391539insG uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 POMT1 10585 broad.mit.edu 37 9 134391541 134391542 + Intron INS - G G rs111862656 2011-2260:2012-1319-T g.chr9:134391541_134391542insG uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 TTF1 7270 broad.mit.edu 37 9 135252932 135252933 + Intron DEL GT - - 2011-2260:2012-1319-T g.chr9:135252932_135252933delGT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 TTF1 7270 broad.mit.edu 37 9 135252952 135252953 + Intron INS - GT GT 2011-2260:2012-1319-T g.chr9:135252952_135252953insGT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 CAMTA1 23261 broad.mit.edu 37 1 7553394 7553395 + Intron INS - GCGCACAA GCGCACAA rs7551012 by1000genomes 2011-2262:2012-374-T g.chr1:7553394_7553395insGCGCACAA uc001aoi.2 + NM_015215 NP_056030 KCNN3 3782 broad.mit.edu 37 1 154686446 154686446 + Intron DEL A - - 2011-2262:2012-374-T g.chr1:154686446delA uc001ffp.2 - KCNN3_uc001ffo.2_Intron NM_002249 NP_002240 FAM20B 9917 broad.mit.edu 37 1 179010771 179010775 + Intron DEL CCGTG - - 2011-2262:2012-374-T g.chr1:179010771_179010775delCCGTG uc001gmc.2 + NM_014864 NP_055679 ADARB2 105 broad.mit.edu 37 10 1266184 1266186 + Intron DEL TGG - - rs112368012 2011-2262:2012-374-T g.chr10:1266184_1266186delTGG uc009xhq.2 - NM_018702 NP_061172 ADARB2 105 broad.mit.edu 37 10 1282212 1282213 + Intron INS - C C 2011-2262:2012-374-T g.chr10:1282212_1282213insC uc009xhq.2 - NM_018702 NP_061172 CCDC6 8030 broad.mit.edu 37 10 61641743 61641744 + Intron INS - CC CC 2011-2262:2012-374-T g.chr10:61641743_61641744insCC uc001jks.3 - NM_005436 NP_005427 KCNC1 3746 broad.mit.edu 37 11 17785794 17785795 + Intron DEL AC - - 2011-2262:2012-374-T g.chr11:17785794_17785795delAC uc001mnk.3 + KCNC1_uc009yhc.1_Intron NM_004976 NP_004967 GLI1 2735 broad.mit.edu 37 12 57853556 57853556 + 5'Flank DEL G - - rs11301591 2011-2262:2012-374-T g.chr12:57853556delG uc001snx.2 + GLI1_uc009zpp.2_5'Flank|GLI1_uc009zpq.2_5'Flank|GLI1_uc009zpr.1_5'Flank NM_005269 NP_005260 ATP11A 23250 broad.mit.edu 37 13 113369779 113369780 + Intron INS - C C rs6577113;rs11415797 2011-2262:2012-374-T g.chr13:113369779_113369780insC uc001vsi.3 + ATP11A_uc001vsj.3_Intron NM_015205 NP_056020 RASA3 22821 broad.mit.edu 37 13 114778407 114778409 + Intron DEL CTC - - rs72314213 2011-2262:2012-374-T g.chr13:114778407_114778409delCTC uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron NM_007368 NP_031394 RIN3 79890 broad.mit.edu 37 14 93106563 93106564 + Intron DEL GC - - rs61992593 2011-2262:2012-374-T g.chr14:93106563_93106564delGC uc001yap.2 + RIN3_uc010auk.2_Intron|RIN3_uc001yaq.2_Intron NM_024832 NP_079108 ANKRD11 29123 broad.mit.edu 37 16 89356788 89356789 + Intron INS - A A 2011-2262:2012-374-T g.chr16:89356788_89356789insA uc002fmx.1 - ANKRD11_uc002fmy.1_Intron|ANKRD11_uc002fnc.1_Intron|ANKRD11_uc002fnd.2_Intron|ANKRD11_uc002fne.2_Intron|ANKRD11_uc002fnb.1_Intron NM_013275 NP_037407 DPEP1 1800 broad.mit.edu 37 16 89701093 89701093 + Intron DEL T - - 2011-2262:2012-374-T g.chr16:89701093delT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701172 89701172 + Intron DEL T - - rs138456393 2011-2262:2012-374-T g.chr16:89701172delT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701177 89701178 + Intron INS - C C 2011-2262:2012-374-T g.chr16:89701177_89701178insC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701242 89701243 + Intron INS - C C 2011-2262:2012-374-T g.chr16:89701242_89701243insC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701258 89701259 + Intron INS - C C 2011-2262:2012-374-T g.chr16:89701258_89701259insC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701321 89701321 + Intron DEL C - - 2011-2262:2012-374-T g.chr16:89701321delC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 LRRC37B 114659 broad.mit.edu 37 17 30361825 30361826 + Intron INS - T T 2011-2262:2012-374-T g.chr17:30361825_30361826insT uc002hgu.2 + LRRC37B_uc010wbx.1_Intron|LRRC37B_uc010csu.2_Intron NM_052888 NP_443120 SGCA 6442 broad.mit.edu 37 17 48244305 48244306 + Intron DEL CA - - 2011-2262:2012-374-T g.chr17:48244305_48244306delCA uc002iqi.2 + SGCA_uc010wmh.1_Intron|SGCA_uc002iqj.2_Intron|SGCA_uc010wmi.1_Intron NM_000023 NP_000014 9-Sep 10801 broad.mit.edu 37 17 75481059 75481061 + Intron DEL TGG - - 2011-2262:2012-374-T g.chr17:75481059_75481061delTGG uc002jts.3 + SEPT9_uc010wtk.1_Intron|SEPT9_uc002jtt.3_Intron|SEPT9_uc002jtu.3_Intron|SEPT9_uc002jtv.2_Intron|SEPT9_uc002jtw.2_Intron|SEPT9_uc010wtl.1_Intron|SEPT9_uc002jty.3_Intron|SEPT9_uc010wtm.1_Intron|SEPT9_uc010wtn.1_Intron|SEPT9_uc010dhd.2_Intron NM_001113491 NP_001106963 BAHCC1 57597 broad.mit.edu 37 17 79399287 79399288 + Intron INS - TGGTGGTGATAG TGGTGGTGATAG 2011-2262:2012-374-T g.chr17:79399287_79399288insTGGTGGTGATAG uc002kaf.2 + NM_001080519 NP_001073988 CACNG7 59284 broad.mit.edu 37 19 54425156 54425156 + Intron DEL T - - 2011-2262:2012-374-T g.chr19:54425156delT uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 CACNG7 59284 broad.mit.edu 37 19 54425467 54425468 + Intron INS - C C 2011-2262:2012-374-T g.chr19:54425467_54425468insC uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 RMND5A 64795 broad.mit.edu 37 2 87656556 87656564 + Intron DEL CAGCGAAGC - - rs149239020 by1000genomes 2011-2262:2012-374-T g.chr2:87656556_87656564delCAGCGAAGC uc002srs.3 + LAMA5 3911 broad.mit.edu 37 20 60888969 60888970 + Intron DEL GT - - 2011-2262:2012-374-T g.chr20:60888969_60888970delGT uc002ycq.2 - NM_005560 NP_005551 LAMA5 3911 broad.mit.edu 37 20 60888977 60888978 + Intron DEL GG - - 2011-2262:2012-374-T g.chr20:60888977_60888978delGG uc002ycq.2 - NM_005560 NP_005551 TRPM2 7226 broad.mit.edu 37 21 45837559 45837560 + Intron DEL TG - - 2011-2262:2012-374-T g.chr21:45837559_45837560delTG uc002zet.1 + TRPM2_uc002zeu.1_Intron|TRPM2_uc002zew.1_Intron|TRPM2_uc010gpt.1_Intron|TRPM2_uc002zex.1_Intron|TRPM2_uc002zey.1_Intron|uc011afe.1_Intron NM_003307 NP_003298 ADARB1 104 broad.mit.edu 37 21 46529242 46529243 + Intron DEL TA - - rs140518083 by1000genomes 2011-2262:2012-374-T g.chr21:46529242_46529243delTA uc002zgy.2 + ADARB1_uc002zgp.2_Intron|ADARB1_uc002zgr.2_Intron|ADARB1_uc002zgs.2_Intron|ADARB1_uc002zgw.2_Intron|ADARB1_uc002zgv.2_Intron|ADARB1_uc002zgt.2_Intron|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_Intron|ADARB1_uc002zgu.2_Intron NM_015833 NP_056648 MPPED1 758 broad.mit.edu 37 22 43871430 43871431 + Intron INS - TGA TGA 2011-2262:2012-374-T g.chr22:43871430_43871431insTGA uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 CNTN4 152330 broad.mit.edu 37 3 2232491 2232494 + Intron DEL CACA - - 2011-2262:2012-374-T g.chr3:2232491_2232494delCACA uc003bpc.2 + CNTN4_uc003bpb.1_Intron NM_175607 NP_783200 DUSP7 1849 broad.mit.edu 37 3 52083738 52083738 + 3'UTR DEL G - - 2011-2262:2012-374-T g.chr3:52083738delG uc003dct.2 - 3 NM_001947 NP_001938 CACNA2D3 55799 broad.mit.edu 37 3 54751774 54751776 + Intron DEL GTG - - 2011-2262:2012-374-T g.chr3:54751774_54751776delGTG uc003dhf.2 + CACNA2D3_uc011beu.1_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron|CACNA2D3_uc010hmv.1_Intron NM_018398 NP_060868 IGF2BP2 10644 broad.mit.edu 37 3 185383242 185383242 + Intron DEL G - - 2011-2262:2012-374-T g.chr3:185383242delG uc003fpo.2 - IGF2BP2_uc010hyi.2_Intron|IGF2BP2_uc010hyj.2_Intron|IGF2BP2_uc010hyk.2_Intron|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Intron NM_006548 NP_006539 SORCS2 57537 broad.mit.edu 37 4 7726580 7726581 + Intron INS - TTA TTA rs147507704;rs76715460 by1000genomes 2011-2262:2012-374-T g.chr4:7726580_7726581insTTA uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 BST1 683 broad.mit.edu 37 4 15705414 15705415 + Intron INS - GC GC 2011-2262:2012-374-T g.chr4:15705414_15705415insGC uc003goh.3 + NM_004334 NP_004325 PSMB1 5689 broad.mit.edu 37 6 170783995 170783995 + Intron DEL C - - 2011-2262:2012-374-T g.chr6:170783995delC uc003qxq.2 - NM_002793 ADAP1 11033 broad.mit.edu 37 7 945113 945114 + Intron INS - A A 2011-2262:2012-374-T g.chr7:945113_945114insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 946003 946004 + Intron INS - G G rs146541692 2011-2262:2012-374-T g.chr7:946003_946004insG uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 TXNDC3 51314 broad.mit.edu 37 7 37886983 37886984 + 5'Flank INS - GAG GAG rs149290475 by1000genomes 2011-2262:2012-374-T g.chr7:37886983_37886984insGAG uc003tfn.2 + NM_016616 NP_057700 RELN 5649 broad.mit.edu 37 7 103202406 103202407 + Intron INS - A A rs3056321;rs35800572 2011-2262:2012-374-T g.chr7:103202406_103202407insA uc003vca.2 - RELN_uc010liz.2_Intron NM_005045 NP_005036 PRKAG2 51422 broad.mit.edu 37 7 151367052 151367053 + Intron INS - CACA CACA rs141754917;rs150659196 by1000genomes 2011-2262:2012-374-T g.chr7:151367052_151367053insCACA uc003wkk.2 - PRKAG2_uc011kvl.1_Intron|PRKAG2_uc003wkj.2_Intron|PRKAG2_uc010lqe.1_Intron NM_016203 NP_057287 SCARA5 286133 broad.mit.edu 37 8 27776472 27776472 + Intron DEL G - - 2011-2262:2012-374-T g.chr8:27776472delG uc003xgj.2 - SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Intron|SCARA5_uc003xgl.2_Intron NM_173833 NP_776194 SCARA5 286133 broad.mit.edu 37 8 27776636 27776637 + Intron DEL AG - - 2011-2262:2012-374-T g.chr8:27776636_27776637delAG uc003xgj.2 - SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Intron|SCARA5_uc003xgl.2_Intron NM_173833 NP_776194 SCARA5 286133 broad.mit.edu 37 8 27776642 27776645 + Intron DEL AAAA - - rs113039317;rs143669479 by1000genomes;by1000genomes 2011-2262:2012-374-T g.chr8:27776642_27776645delAAAA uc003xgj.2 - SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Intron|SCARA5_uc003xgl.2_Intron NM_173833 NP_776194 SCARA5 286133 broad.mit.edu 37 8 27776657 27776658 + Intron INS - G G 2011-2262:2012-374-T g.chr8:27776657_27776658insG uc003xgj.2 - SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Intron|SCARA5_uc003xgl.2_Intron NM_173833 NP_776194 HGSNAT 138050 broad.mit.edu 37 8 43050798 43050799 + Intron INS - AGA AGA rs144111342 by1000genomes 2011-2262:2012-374-T g.chr8:43050798_43050799insAGA uc003xpx.3 + NM_152419 NP_689632 COL22A1 169044 broad.mit.edu 37 8 139817989 139817990 + Intron DEL GT - - 2011-2262:2012-374-T g.chr8:139817989_139817990delGT uc003yvd.2 - NM_152888 NP_690848 TOP1MT 116447 broad.mit.edu 37 8 144403605 144403606 + Intron DEL CA - - 2011-2262:2012-374-T g.chr8:144403605_144403606delCA uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 ARHGAP39 80728 broad.mit.edu 37 8 145913178 145913179 + 5'Flank INS - C C rs150497157 by1000genomes 2011-2262:2012-374-T g.chr8:145913178_145913179insC uc011llk.1 - NM_025251 NP_079527 SEMA4D 10507 broad.mit.edu 37 9 91987028 91987029 + Intron INS - GTGT GTGT rs147774978 by1000genomes 2011-2262:2012-374-T g.chr9:91987028_91987029insGTGT uc011ltm.1 - SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqm.2_5'Flank NM_001142287 NP_001135759 EXD3 54932 broad.mit.edu 37 9 140223555 140223556 + Intron INS - A A rs138756545 2011-2262:2012-374-T g.chr9:140223555_140223556insA uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron NM_017820 NP_060290 AGRN 375790 broad.mit.edu 37 1 966147 966148 + Intron INS - TGTG TGTG rs142523522 2011-2263:2012-1327-T g.chr1:966147_966148insTGTG uc001ack.1 + NM_198576 NP_940978 C1orf159 54991 broad.mit.edu 37 1 1043829 1043830 + Intron INS - G G rs36161240 by1000genomes 2011-2263:2012-1327-T g.chr1:1043829_1043830insG uc001act.2 - C1orf159_uc001acu.2_Intron|C1orf159_uc001acr.2_Intron|C1orf159_uc001acs.2_Intron|C1orf159_uc001acp.2_5'Flank NM_017891 NP_060361 FAIM3 9214 broad.mit.edu 37 1 207097707 207097708 + 5'Flank INS - GT GT 2011-2263:2012-1327-T g.chr1:207097707_207097708insGT uc001hey.2 - FAIM3_uc010prz.1_5'Flank|FAIM3_uc010psa.1_5'Flank|FAIM3_uc010psb.1_5'Flank NM_005449 NP_005440 VWA2 340706 broad.mit.edu 37 10 116043012 116043013 + Intron INS - CAGG CAGG 2011-2263:2012-1327-T g.chr10:116043012_116043013insCAGG uc001lbl.1 + VWA2_uc001lbk.1_Intron|VWA2_uc009xyf.1_Intron NM_198496 NP_940898 TPCN2 219931 broad.mit.edu 37 11 68844730 68844737 + Intron DEL CCTGCCCT - - rs67907601 2011-2263:2012-1327-T g.chr11:68844730_68844737delCCTGCCCT uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_Intron NM_139075 NP_620714 ZDHHC20 253832 broad.mit.edu 37 13 21951748 21951749 + Intron DEL CT - - rs68104473 2011-2263:2012-1327-T g.chr13:21951748_21951749delCT uc001uob.2 - ZDHHC20_uc001uod.2_Intron|ZDHHC20_uc001uoc.2_Intron|ZDHHC20_uc001uoe.2_Intron|ZDHHC20_uc010tcs.1_Intron NM_153251 NP_694983 ATP11A 23250 broad.mit.edu 37 13 113433031 113433032 + Intron INS - GAG GAG rs10645187;rs67803605 2011-2263:2012-1327-T g.chr13:113433031_113433032insGAG uc001vsi.3 + ATP11A_uc001vsj.3_Intron NM_015205 NP_056020 LMF1 64788 broad.mit.edu 37 16 907938 907939 + Intron INS - A A 2011-2263:2012-1327-T g.chr16:907938_907939insA uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 908332 908333 + Intron INS - C C 2011-2263:2012-1327-T g.chr16:908332_908333insC uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 CMIP 80790 broad.mit.edu 37 16 81702452 81702455 + Intron DEL CACT - - rs77664242;rs148637067 by1000genomes 2011-2263:2012-1327-T g.chr16:81702452_81702455delCACT uc002fgp.2 + CMIP_uc002fgq.1_Intron|CMIP_uc010vnq.1_Intron|CMIP_uc002fgr.1_Intron NM_198390 NP_938204 TP53 7157 broad.mit.edu 37 17 7577552 7577569 + In_Frame_Del DEL CATGCAGGAACTGTTACA - - rs121912655;rs28934573 2011-2263:2012-1327-T g.chr17:7577552_7577569delCATGCAGGAACTGTTACA uc002gim.2 - 7 906_923 c.712_729delTGTAACAGTTCCTGCATG c.(712-729)TGTAACAGTTCCTGCATGdel p.CNSSCM238del TP53_uc002gig.1_In_Frame_Del_p.CNSSCM238del|TP53_uc002gih.2_In_Frame_Del_p.CNSSCM238del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.CNSSCM106del|TP53_uc010cng.1_In_Frame_Del_p.CNSSCM106del|TP53_uc002gii.1_In_Frame_Del_p.CNSSCM106del|TP53_uc010cnh.1_In_Frame_Del_p.CNSSCM238del|TP53_uc010cni.1_In_Frame_Del_p.CNSSCM238del|TP53_uc002gij.2_In_Frame_Del_p.CNSSCM238del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.CNSSCM145del|TP53_uc002gio.2_In_Frame_Del_p.CNSSCM106del NM_001126112 NP_001119584 RPTOR 57521 broad.mit.edu 37 17 78904248 78904248 + Intron DEL T - - rs66536164 2011-2263:2012-1327-T g.chr17:78904248delT uc002jyt.1 + RPTOR_uc010wug.1_Intron NM_020761 NP_065812 BAIAP2 10458 broad.mit.edu 37 17 79078806 79078807 + Intron INS - C C 2011-2263:2012-1327-T g.chr17:79078806_79078807insC uc002jzg.2 + BAIAP2_uc002jyz.3_Intron|BAIAP2_uc002jza.2_Intron|BAIAP2_uc002jzc.2_Intron|BAIAP2_uc002jzb.2_Intron|BAIAP2_uc002jzd.2_Intron|BAIAP2_uc002jzf.2_Intron|BAIAP2_uc002jze.2_Intron|BAIAP2_uc010wuh.1_Intron|BAIAP2_uc002jzh.2_Intron|BAIAP2_uc010wui.1_Intron NM_017451 NP_059345 TYMS 7298 broad.mit.edu 37 18 667541 667541 + Intron DEL T - - 2011-2263:2012-1327-T g.chr18:667541delT uc010dka.1 + TYMS_uc010dkb.1_Intron|TYMS_uc010dkc.1_Intron NM_001071 NP_001062 ZNF236 7776 broad.mit.edu 37 18 74679321 74679322 + Intron INS - GGT GGT rs142500877 by1000genomes 2011-2263:2012-1327-T g.chr18:74679321_74679322insGGT uc002lmi.2 + ZNF236_uc002lmj.2_Intron NM_007345 NP_031371 ZNF236 7776 broad.mit.edu 37 18 74679353 74679353 + Intron DEL T - - 2011-2263:2012-1327-T g.chr18:74679353delT uc002lmi.2 + ZNF236_uc002lmj.2_Intron NM_007345 NP_031371 CACNG7 59284 broad.mit.edu 37 19 54427248 54427248 + Intron DEL C - - 2011-2263:2012-1327-T g.chr19:54427248delC uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 U2AF2 11338 broad.mit.edu 37 19 56181835 56181835 + Intron DEL G - - rs146196962 by1000genomes 2011-2263:2012-1327-T g.chr19:56181835delG uc002qlu.2 + U2AF2_uc002qlt.2_Intron NM_007279 NP_009210 U2AF2 11338 broad.mit.edu 37 19 56181864 56181865 + Intron INS - C C 2011-2263:2012-1327-T g.chr19:56181864_56181865insC uc002qlu.2 + U2AF2_uc002qlt.2_Intron NM_007279 NP_009210 DYSF 8291 broad.mit.edu 37 2 71845045 71845045 + Intron DEL T - - 2011-2263:2012-1327-T g.chr2:71845045delT uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 DYSF 8291 broad.mit.edu 37 2 71845626 71845627 + Intron DEL TG - - 2011-2263:2012-1327-T g.chr2:71845626_71845627delTG uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 RMND5A 64795 broad.mit.edu 37 2 87623776 87623776 + Intron DEL A - - 2011-2263:2012-1327-T g.chr2:87623776delA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87641749 87641750 + Intron INS - A A rs145264498 2011-2263:2012-1327-T g.chr2:87641749_87641750insA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87643612 87643613 + Intron INS - A A 2011-2263:2012-1327-T g.chr2:87643612_87643613insA uc002srs.3 + TTN 7273 broad.mit.edu 37 2 179634390 179634390 + Intron DEL A - - rs66507452 2011-2263:2012-1327-T g.chr2:179634390delA uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002unb.2_Intron NM_133378 NP_596869 TTN 7273 broad.mit.edu 37 2 179634392 179634392 + Intron DEL A - - rs13388274 2011-2263:2012-1327-T g.chr2:179634392delA uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002unb.2_Intron NM_133378 NP_596869 ATIC 471 broad.mit.edu 37 2 216176320 216176320 + 5'Flank DEL A - - 2011-2263:2012-1327-T g.chr2:216176320delA uc002vex.3 + ATIC_uc010zjo.1_5'Flank|ATIC_uc002vey.3_5'Flank NM_004044 NP_004035 COL6A3 1293 broad.mit.edu 37 2 238323051 238323051 + 5'Flank DEL A - - 2011-2263:2012-1327-T g.chr2:238323051delA uc002vwl.2 - COL6A3_uc002vwo.2_5'Flank|COL6A3_uc010znj.1_5'Flank|COL6A3_uc002vwq.2_5'Flank|COL6A3_uc002vwr.2_5'Flank|COL6A3_uc010znk.1_5'Flank NM_004369 NP_004360 C20orf26 26074 broad.mit.edu 37 20 20337114 20337115 + Intron INS - TG TG 2011-2263:2012-1327-T g.chr20:20337114_20337115insTG uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 C20orf26 26074 broad.mit.edu 37 20 20338676 20338677 + Intron INS - GT GT rs113150957 by1000genomes 2011-2263:2012-1327-T g.chr20:20338676_20338677insGT uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 RTEL1 51750 broad.mit.edu 37 20 62309932 62309933 + Intron INS - CT CT 2011-2263:2012-1327-T g.chr20:62309932_62309933insCT uc002yfu.1 + RTEL1_uc011abc.1_Intron|RTEL1_uc002yft.1_Intron|RTEL1_uc011abd.1_Intron|RTEL1_uc011abe.1_Intron|RTEL1_uc002yfw.2_Intron NM_016434 NP_057518 AGPAT3 56894 broad.mit.edu 37 21 45378962 45378964 + Intron DEL GTG - - 2011-2263:2012-1327-T g.chr21:45378962_45378964delGTG uc002zdv.2 + AGPAT3_uc002zdw.2_Intron|AGPAT3_uc002zdx.2_Intron|AGPAT3_uc002zdy.2_5'Flank NM_020132 NP_064517 AGPAT3 56894 broad.mit.edu 37 21 45395118 45395120 + Intron DEL TGG - - rs146827927;rs9981726 2011-2263:2012-1327-T g.chr21:45395118_45395120delTGG uc002zdv.2 + AGPAT3_uc002zdw.2_Intron|AGPAT3_uc002zdx.2_Intron|AGPAT3_uc002zdy.2_Intron NM_020132 NP_064517 ADARB1 104 broad.mit.edu 37 21 46553675 46553676 + Intron INS - AGT AGT 2011-2263:2012-1327-T g.chr21:46553675_46553676insAGT uc002zgy.2 + ADARB1_uc002zgp.2_Intron|ADARB1_uc002zgr.2_Intron|ADARB1_uc002zgs.2_Intron|ADARB1_uc002zgw.2_Intron|ADARB1_uc002zgv.2_Intron|ADARB1_uc002zgt.2_Intron|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_Intron|ADARB1_uc002zgu.2_Intron NM_015833 NP_056648 PARVB 29780 broad.mit.edu 37 22 44550916 44550919 + Intron DEL GTGT - - rs909852;rs2401649;rs2401650 2011-2263:2012-1327-T g.chr22:44550916_44550919delGTGT uc003ben.2 + PARVB_uc003bem.2_Intron|PARVB_uc010gzn.2_Intron|PARVB_uc003beo.2_Intron NM_013327 NP_037459 CASR 846 broad.mit.edu 37 3 121902719 121902720 + Intron INS - A A rs67812934 2011-2263:2012-1327-T g.chr3:121902719_121902720insA uc003eev.3 + CASR_uc003eew.3_5'Flank NM_000388 NP_000379 BCL6 604 broad.mit.edu 37 3 187454383 187454386 + 5'Flank DEL AAAC - - 2011-2263:2012-1327-T g.chr3:187454383_187454386delAAAC uc003frp.3 - BCL6_uc011bsf.1_5'Flank|BCL6_uc010hza.2_5'Flank|BCL6_uc003frq.1_Intron NM_001130845 NP_001124317 KIAA1530 57654 broad.mit.edu 37 4 1342828 1342829 + Intron INS - C C rs141462094 by1000genomes 2011-2263:2012-1327-T g.chr4:1342828_1342829insC uc003gde.3 + NM_020894 NP_065945 EVC2 132884 broad.mit.edu 37 4 5685565 5685568 + Intron DEL ACAC - - 2011-2263:2012-1327-T g.chr4:5685565_5685568delACAC uc003gij.2 - EVC2_uc011bwb.1_Intron|EVC2_uc003gik.2_Intron NM_147127 NP_667338 SORCS2 57537 broad.mit.edu 37 4 7456767 7456768 + Intron DEL TG - - 2011-2263:2012-1327-T g.chr4:7456767_7456768delTG uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 TET2 54790 broad.mit.edu 37 4 106163110 106163111 + Intron DEL TC - - rs57665828;rs58713918;rs66726009 2011-2263:2012-1327-T g.chr4:106163110_106163111delTC uc003hxk.2 + TET2_uc011cez.1_Intron|TET2_uc003hxj.2_Intron|TET2_uc010ilp.1_3'UTR|TET2_uc003hxi.1_3'UTR NM_001127208 NP_001120680 CEP72 55722 broad.mit.edu 37 5 649777 649778 + Intron INS - G G 2011-2263:2012-1327-T g.chr5:649777_649778insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650066 650067 + Intron INS - G G 2011-2263:2012-1327-T g.chr5:650066_650067insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650241 650241 + Intron DEL G - - 2011-2263:2012-1327-T g.chr5:650241delG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650362 650363 + Intron DEL TG - - 2011-2263:2012-1327-T g.chr5:650362_650363delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650518 650519 + Intron INS - G G 2011-2263:2012-1327-T g.chr5:650518_650519insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650525 650526 + Intron INS - A A 2011-2263:2012-1327-T g.chr5:650525_650526insA uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650700 650705 + Intron DEL TGTGGG - - 2011-2263:2012-1327-T g.chr5:650700_650705delTGTGGG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650767 650768 + Intron INS - G G 2011-2263:2012-1327-T g.chr5:650767_650768insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650866 650867 + Intron DEL TG - - 2011-2263:2012-1327-T g.chr5:650866_650867delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 651259 651260 + Intron INS - TG TG rs72148198 2011-2263:2012-1327-T g.chr5:651259_651260insTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 651413 651414 + Intron INS - G G rs71921749 2011-2263:2012-1327-T g.chr5:651413_651414insG uc003jbf.2 + NM_018140 NP_060610 PIK3R1 5295 broad.mit.edu 37 5 67513456 67513457 + Intron INS - T T rs34687648;rs13186403 by1000genomes 2011-2263:2012-1327-T g.chr5:67513456_67513457insT uc003jva.2 + NM_181523 NP_852664 RNF130 55819 broad.mit.edu 37 5 179442513 179442514 + Intron INS - G G 2011-2263:2012-1327-T g.chr5:179442513_179442514insG uc003mll.1 - RNF130_uc003mlm.1_Intron|MIR340_hsa-mir-340|MI0000802_5'Flank|uc003mln.2_5'Flank NM_018434 NP_060904 BPHL 670 broad.mit.edu 37 6 3146132 3146133 + Intron INS - G G 2011-2263:2012-1327-T g.chr6:3146132_3146133insG uc003mva.2 + BPHL_uc003muz.2_Intron|BPHL_uc011dht.1_Intron|BPHL_uc003muy.2_Intron NM_004332 NP_004323 BPHL 670 broad.mit.edu 37 6 3146221 3146222 + Intron INS - G G 2011-2263:2012-1327-T g.chr6:3146221_3146222insG uc003mva.2 + BPHL_uc003muz.2_Intron|BPHL_uc011dht.1_Intron|BPHL_uc003muy.2_Intron NM_004332 NP_004323 HLA-G 3135 broad.mit.edu 37 6 29855265 29855266 + Intron DEL CC - - rs140569140;rs145355219 2011-2263:2012-1327-T g.chr6:29855265_29855266delCC uc011dmb.1 + HLA-H_uc003nod.2_5'Flank|HLA-H_uc010jro.2_5'Flank NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29893622 29893626 + Intron DEL AAAAC - - rs67081368;rs28725110;rs140158039 2011-2263:2012-1327-T g.chr6:29893622_29893626delAAAAC uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HCG4P6_uc003noh.1_5'Flank|uc003noi.2_5'Flank NM_002127 NP_002118 HLA-B 3106 broad.mit.edu 37 6 31324851 31324852 + Intron INS - C C rs148300790 by1000genomes 2011-2263:2012-1327-T g.chr6:31324851_31324852insC uc003nth.2 - HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_5'Flank|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_5'Flank NM_005514 NP_005505 TAP1 6890 broad.mit.edu 37 6 32820695 32820696 + Intron INS - G G rs146655451 by1000genomes 2011-2263:2012-1327-T g.chr6:32820695_32820696insG uc003ocg.2 - TAP1_uc011dqi.1_5'Flank|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank NM_000593 NP_000584 MDGA1 266727 broad.mit.edu 37 6 37611883 37611884 + Intron INS - C C 2011-2263:2012-1327-T g.chr6:37611883_37611884insC uc003onu.1 - MDGA1_uc003onv.1_Intron NM_153487 NP_705691 SMOC2 64094 broad.mit.edu 37 6 169016399 169016400 + Intron DEL GG - - 2011-2263:2012-1327-T g.chr6:169016399_169016400delGG uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 C7orf50 84310 broad.mit.edu 37 7 1056138 1056139 + Intron INS - GC GC 2011-2263:2012-1327-T g.chr7:1056138_1056139insGC uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 RPA3 6119 broad.mit.edu 37 7 7712941 7712942 + Intron INS - AGC AGC rs148595964;rs10527750 by1000genomes 2011-2263:2012-1327-T g.chr7:7712941_7712942insAGC uc003sri.2 - uc011jxf.1_5'UTR NM_002947 NP_002938 ETV1 2115 broad.mit.edu 37 7 14028861 14028861 + Intron DEL A - - rs11328804 2011-2263:2012-1327-T g.chr7:14028861delA uc011jxq.1 - ETV1_uc011jxn.1_5'Flank|ETV1_uc011jxo.1_5'Flank|ETV1_uc011jxp.1_5'Flank|ETV1_uc003ssw.3_Intron|ETV1_uc003ssx.2_Intron|ETV1_uc011jxr.1_Intron|ETV1_uc011jxs.1_Intron NM_004956 NP_004947 BAZ1B 9031 broad.mit.edu 37 7 72879899 72879899 + Intron DEL A - - 2011-2263:2012-1327-T g.chr7:72879899delA uc003tyc.2 - NM_032408 NP_115784 ZNF804B 219578 broad.mit.edu 37 7 88388374 88388374 + 5'Flank DEL C - - 2011-2263:2012-1327-T g.chr7:88388374delC uc011khi.1 + NM_181646 NP_857597 PRKAG2 51422 broad.mit.edu 37 7 151552280 151552281 + Intron DEL CA - - 2011-2263:2012-1327-T g.chr7:151552280_151552281delCA uc003wkk.2 - PRKAG2_uc010lqe.1_Intron|PRKAG2_uc003wkm.1_Intron NM_016203 NP_057287 PTPRN2 5799 broad.mit.edu 37 7 158317216 158317217 + Intron INS - GTC GTC 2011-2263:2012-1327-T g.chr7:158317216_158317217insGTC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 UBR5 51366 broad.mit.edu 37 8 103290953 103290953 + Intron DEL A - - 2011-2263:2012-1327-T g.chr8:103290953delA uc003ykr.1 - UBR5_uc003yks.1_Intron NM_015902 NP_056986 PKHD1L1 93035 broad.mit.edu 37 8 110473965 110473966 + Intron INS - T T rs144083788;rs140313571 by1000genomes;by1000genomes 2011-2263:2012-1327-T g.chr8:110473965_110473966insT uc003yne.2 + NM_177531 NP_803875 ZNF16 7564 broad.mit.edu 37 8 146172390 146172391 + Intron DEL CT - - rs66905525 2011-2263:2012-1327-T g.chr8:146172390_146172391delCT uc003zet.2 - ZNF16_uc003zeu.2_Intron NM_001029976 NP_001025147 POMT1 10585 broad.mit.edu 37 9 134391317 134391317 + Intron DEL G - - rs75256542 2011-2263:2012-1327-T g.chr9:134391317delG uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 POMT1 10585 broad.mit.edu 37 9 134391531 134391534 + Intron DEL CTAA - - 2011-2263:2012-1327-T g.chr9:134391531_134391534delCTAA uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 MORN1 79906 broad.mit.edu 37 1 2258675 2258678 + Intron DEL AAAC - - 2011-2264:2012-371-T g.chr1:2258675_2258678delAAAC uc001ajb.1 - NM_024848 NP_079124 GLIS1 148979 broad.mit.edu 37 1 54021914 54021915 + Intron DEL GT - - 2011-2264:2012-371-T g.chr1:54021914_54021915delGT uc001cvr.1 - NM_147193 NP_671726 KIF26B 55083 broad.mit.edu 37 1 245627958 245627959 + Intron DEL GT - - 2011-2264:2012-371-T g.chr1:245627958_245627959delGT uc001ibf.1 + KIF26B_uc010pyq.1_Intron NM_018012 NP_060482 JAKMIP3 282973 broad.mit.edu 37 10 133974000 133974000 + Intron DEL G - - 2011-2264:2012-371-T g.chr10:133974000delG uc001lkx.3 + JAKMIP3_uc009yba.1_Intron NM_001105521 NP_001098991 CHID1 66005 broad.mit.edu 37 11 897179 897179 + Intron DEL A - - 2011-2264:2012-371-T g.chr11:897179delA uc001lsl.2 - CHID1_uc010qwu.1_Intron|CHID1_uc010qwv.1_Intron|CHID1_uc001lsn.2_Intron|CHID1_uc001lsm.2_Intron|CHID1_uc001lso.2_Intron|CHID1_uc001lsp.2_Intron|CHID1_uc010qww.1_Intron NM_023947 NP_076436 BRSK2 9024 broad.mit.edu 37 11 1415135 1415135 + Intron DEL C - - 2011-2264:2012-371-T g.chr11:1415135delC uc001lti.2 + BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001ltj.2_Intron|BRSK2_uc001ltk.2_Intron|BRSK2_uc001ltl.2_Intron NM_003957 NP_003948 BRSK2 9024 broad.mit.edu 37 11 1415162 1415163 + Intron INS - C C 2011-2264:2012-371-T g.chr11:1415162_1415163insC uc001lti.2 + BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001ltj.2_Intron|BRSK2_uc001ltk.2_Intron|BRSK2_uc001ltl.2_Intron NM_003957 NP_003948 MYO7A 4647 broad.mit.edu 37 11 76903987 76903988 + Intron INS - GGA GGA rs61900017 2011-2264:2012-371-T g.chr11:76903987_76903988insGGA uc001oyb.2 + MYO7A_uc010rsm.1_Intron|MYO7A_uc001oyc.2_Intron|MYO7A_uc009yus.1_Intron|MYO7A_uc009yut.1_Intron NM_000260 NP_000251 NCOR2 9612 broad.mit.edu 37 12 124953359 124953359 + Intron DEL C - - 2011-2264:2012-371-T g.chr12:124953359delC uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 GRK1 6011 broad.mit.edu 37 13 114430991 114430993 + Intron DEL AGT - - 2011-2264:2012-371-T g.chr13:114430991_114430993delAGT uc010tkf.1 + NM_002929 NP_002920 KIAA0284 283638 broad.mit.edu 37 14 105338753 105338754 + Intron DEL GG - - rs71871178 2011-2264:2012-371-T g.chr14:105338753_105338754delGG uc010axb.2 + INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Intron NM_001112726 NP_001106197 KIAA0284 283638 broad.mit.edu 37 14 105338808 105338809 + Intron DEL GT - - rs137884337 2011-2264:2012-371-T g.chr14:105338808_105338809delGT uc010axb.2 + INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Intron NM_001112726 NP_001106197 SOLH 6650 broad.mit.edu 37 16 594831 594832 + Intron INS - T T rs11444365 2011-2264:2012-371-T g.chr16:594831_594832insT uc002chi.2 + SOLH_uc002chh.1_Intron NM_005632 NP_005623 USP6 9098 broad.mit.edu 37 17 5044640 5044641 + Intron INS - A A 2011-2264:2012-371-T g.chr17:5044640_5044641insA uc002gau.1 + USP6_uc002gav.1_Intron|USP6_uc010ckz.1_Intron NM_004505 NP_004496 RAB37 326624 broad.mit.edu 37 17 72729606 72729607 + Intron DEL GA - - rs140792104;rs112002521 2011-2264:2012-371-T g.chr17:72729606_72729607delGA uc010dfu.2 + RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron NM_175738 NP_783865 FSCN2 25794 broad.mit.edu 37 17 79498749 79498750 + Intron INS - TGGTGATGG TGGTGATGG rs139634804 by1000genomes 2011-2264:2012-371-T g.chr17:79498749_79498750insTGGTGATGG uc010wup.1 + FSCN2_uc010wuo.1_Intron NM_012418 NP_036550 SBNO2 22904 broad.mit.edu 37 19 1164603 1164605 + Intron DEL AGG - - 2011-2264:2012-371-T g.chr19:1164603_1164605delAGG uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 CD70 970 broad.mit.edu 37 19 6587224 6587225 + Intron INS - GAGA GAGA rs142923593 by1000genomes 2011-2264:2012-371-T g.chr19:6587224_6587225insGAGA uc002mfi.2 - CD70_uc010xjf.1_Intron NM_001252 NP_001243 SNTG2 54221 broad.mit.edu 37 2 1285002 1285003 + Intron INS - G G 2011-2264:2012-371-T g.chr2:1285002_1285003insG uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 TPO 7173 broad.mit.edu 37 2 1529826 1529826 + Intron DEL C - - 2011-2264:2012-371-T g.chr2:1529826delC uc002qww.2 + TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Intron|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron NM_000547 NP_000538 RAMP1 10267 broad.mit.edu 37 2 238819309 238819310 + Intron DEL AG - - 2011-2264:2012-371-T g.chr2:238819309_238819310delAG uc002vxj.2 + NM_005855 NP_005846 C20orf26 26074 broad.mit.edu 37 20 20338154 20338155 + Intron INS - GT GT rs144757305 2011-2264:2012-371-T g.chr20:20338154_20338155insGT uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 KCNQ2 3785 broad.mit.edu 37 20 62074268 62074270 + Intron DEL CAT - - 2011-2264:2012-371-T g.chr20:62074268_62074270delCAT uc002yey.1 - KCNQ2_uc002yez.1_Intron|KCNQ2_uc002yfa.1_Intron|KCNQ2_uc002yfb.1_Intron|KCNQ2_uc011aax.1_Intron|KCNQ2_uc002yfc.1_Intron NM_172107 NP_742105 PRIC285 85441 broad.mit.edu 37 20 62191028 62191029 + Intron INS - GGG GGG rs140305023 by1000genomes 2011-2264:2012-371-T g.chr20:62191028_62191029insGGG uc002yfm.2 - PRIC285_uc002yfl.1_Intron NM_001037335 NP_001032412 AHRR 57491 broad.mit.edu 37 5 345186 345187 + Intron DEL TG - - 2011-2264:2012-371-T g.chr5:345186_345187delTG uc003jav.2 + AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Intron NM_020731 NP_065782 CEP72 55722 broad.mit.edu 37 5 649629 649630 + Intron INS - CA CA 2011-2264:2012-371-T g.chr5:649629_649630insCA uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649632 649632 + Intron DEL T - - 2011-2264:2012-371-T g.chr5:649632delT uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1071171 1071171 + Intron DEL G - - 2011-2264:2012-371-T g.chr5:1071171delG uc003jbu.2 - NM_006598 NP_006589 PIK3R1 5295 broad.mit.edu 37 5 67513479 67513480 + Intron INS - GCGCGCGCGCGCGC GCGCGCGCGCGCGC rs2591416 by1000genomes 2011-2264:2012-371-T g.chr5:67513479_67513480insGCGCGCGCGCGCGC uc003jva.2 + NM_181523 NP_852664 SMOC2 64094 broad.mit.edu 37 6 169015395 169015395 + Intron DEL T - - rs68108420 2011-2264:2012-371-T g.chr6:169015395delT uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 SMOC2 64094 broad.mit.edu 37 6 169015398 169015398 + Intron DEL A - - rs67612893 2011-2264:2012-371-T g.chr6:169015398delA uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 ADAP1 11033 broad.mit.edu 37 7 946260 946260 + Intron DEL A - - 2011-2264:2012-371-T g.chr7:946260delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ASTN2 23245 broad.mit.edu 37 9 119698354 119698355 + Intron INS - CATCAT CATCAT 2011-2264:2012-371-T g.chr9:119698354_119698355insCATCAT uc004bjs.1 - ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjt.1_Intron NM_198187 NP_937830 TTF1 7270 broad.mit.edu 37 9 135253801 135253802 + Intron INS - GTGT GTGT 2011-2264:2012-371-T g.chr9:135253801_135253802insGTGT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 EHMT1 79813 broad.mit.edu 37 9 140610825 140610826 + Intron INS - G G 2011-2264:2012-371-T g.chr9:140610825_140610826insG uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 CELF2 10659 broad.mit.edu 37 10 11326377 11326378 + Intron DEL TG - - 2011-2265:2012-367-T g.chr10:11326377_11326378delTG uc001iki.3 + CELF2_uc010qbi.1_Intron|CELF2_uc010qbj.1_Intron|CELF2_uc001ikk.2_Intron|CELF2_uc001ikl.3_Intron|CELF2_uc010qbk.1_Intron|CELF2_uc010qbl.1_Intron|CELF2_uc010qbm.1_Intron|CELF2_uc001iko.3_Intron|CELF2_uc001ikp.3_Intron|CELF2_uc010qbn.1_Intron|CELF2_uc010qbo.1_Intron|CELF2_uc010qbp.1_Intron NM_001025077 NP_001020248 B4GALNT3 283358 broad.mit.edu 37 12 620595 620597 + Intron DEL CTT - - 2011-2265:2012-367-T g.chr12:620595_620597delCTT uc001qii.1 + NM_173593 NP_775864 B4GALNT3 283358 broad.mit.edu 37 12 620966 620968 + Intron DEL CTT - - 2011-2265:2012-367-T g.chr12:620966_620968delCTT uc001qii.1 + NM_173593 NP_775864 B4GALNT3 283358 broad.mit.edu 37 12 621435 621436 + Intron INS - C C 2011-2265:2012-367-T g.chr12:621435_621436insC uc001qii.1 + NM_173593 NP_775864 B4GALNT3 283358 broad.mit.edu 37 12 621532 621533 + Intron INS - C C 2011-2265:2012-367-T g.chr12:621532_621533insC uc001qii.1 + NM_173593 NP_775864 GRK1 6011 broad.mit.edu 37 13 114436867 114436872 + Intron DEL TGTGTA - - 2011-2265:2012-367-T g.chr13:114436867_114436872delTGTGTA uc010tkf.1 + NM_002929 NP_002920 LMF1 64788 broad.mit.edu 37 16 964681 964682 + Intron INS - T T 2011-2265:2012-367-T g.chr16:964681_964682insT uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 MAPK8IP3 23162 broad.mit.edu 37 16 1786833 1786838 + Intron DEL GTGAGC - - 2011-2265:2012-367-T g.chr16:1786833_1786838delGTGAGC uc002cmk.2 + MAPK8IP3_uc002cmi.1_Intron|MAPK8IP3_uc002cmj.1_Intron|MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Intron NM_015133 NP_055948 ABR 29 broad.mit.edu 37 17 1021075 1021075 + Intron DEL C - - rs112836876 2011-2265:2012-367-T g.chr17:1021075delC uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 BAHCC1 57597 broad.mit.edu 37 17 79399471 79399472 + Intron INS - TAG TAG 2011-2265:2012-367-T g.chr17:79399471_79399472insTAG uc002kaf.2 + NM_001080519 NP_001073988 TBCD 6904 broad.mit.edu 37 17 80806756 80806756 + Intron DEL C - - rs67238067 2011-2265:2012-367-T g.chr17:80806756delC uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 CACNG7 59284 broad.mit.edu 37 19 54425517 54425517 + Intron DEL T - - 2011-2265:2012-367-T g.chr19:54425517delT uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 CACNG7 59284 broad.mit.edu 37 19 54428870 54428870 + Intron DEL T - - 2011-2265:2012-367-T g.chr19:54428870delT uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 PXDN 7837 broad.mit.edu 37 2 1714374 1714375 + Intron DEL CA - - rs150825248 by1000genomes 2011-2265:2012-367-T g.chr2:1714374_1714375delCA uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 PXDN 7837 broad.mit.edu 37 2 1724485 1724486 + Intron INS - TGCA TGCA rs113926458 2011-2265:2012-367-T g.chr2:1724485_1724486insTGCA uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 MYT1L 23040 broad.mit.edu 37 2 1801823 1801824 + Intron INS - A A rs66467736 2011-2265:2012-367-T g.chr2:1801823_1801824insA uc002qxe.2 - MYT1L_uc002qxd.2_Intron|MYT1L_uc010ewk.2_Intron NM_015025 NP_055840 DYSF 8291 broad.mit.edu 37 2 71845243 71845244 + Intron INS - GT GT 2011-2265:2012-367-T g.chr2:71845243_71845244insGT uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 RMND5A 64795 broad.mit.edu 37 2 87651177 87651178 + Intron INS - A A 2011-2265:2012-367-T g.chr2:87651177_87651178insA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87719726 87719726 + Intron DEL C - - 2011-2265:2012-367-T g.chr2:87719726delC uc002srs.3 + C2orf55 343990 broad.mit.edu 37 2 99516557 99516558 + Intron INS - A A 2011-2265:2012-367-T g.chr2:99516557_99516558insA uc002szf.1 - NM_207362 NP_997245 SPAG16 79582 broad.mit.edu 37 2 214272530 214272531 + Intron DEL AG - - 2011-2265:2012-367-T g.chr2:214272530_214272531delAG uc002veq.2 + SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Intron|SPAG16_uc010zjk.1_Intron NM_024532 NP_078808 CHRNA4 1137 broad.mit.edu 37 20 61985103 61985104 + Intron INS - G G rs146156189;rs66520077 by1000genomes 2011-2265:2012-367-T g.chr20:61985103_61985104insG uc002yes.2 - CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_Intron|CHRNA4_uc010gke.1_Intron|CHRNA4_uc002yev.1_Intron|CHRNA4_uc010gkf.1_Intron NM_000744 NP_000735 GMEB2 26205 broad.mit.edu 37 20 62239099 62239100 + Intron INS - A A 2011-2265:2012-367-T g.chr20:62239099_62239100insA uc002yfp.1 - GMEB2_uc002yfo.1_5'Flank|GMEB2_uc002yfq.1_Intron NM_012384 NP_036516 RANBP1 5902 broad.mit.edu 37 22 20110953 20110954 + Intron INS - C C 2011-2265:2012-367-T g.chr22:20110953_20110954insC uc002zro.1 + RANBP1_uc011ahl.1_Intron|RANBP1_uc002zrp.2_Intron NM_002882 NP_002873 TOM1 10043 broad.mit.edu 37 22 35739336 35739337 + Intron INS - CA CA rs144221305 2011-2265:2012-367-T g.chr22:35739336_35739337insCA uc003ann.2 + TOM1_uc011ami.1_Intron|TOM1_uc011amj.1_Intron|TOM1_uc003ans.2_Intron|TOM1_uc011amk.1_Intron|TOM1_uc003anp.2_Intron|TOM1_uc011aml.1_Intron|TOM1_uc003ano.2_Intron|TOM1_uc003anq.2_Intron|TOM1_uc003anr.2_Intron NM_005488 NP_005479 TNK2 10188 broad.mit.edu 37 3 195597917 195597918 + Intron INS - G G 2011-2265:2012-367-T g.chr3:195597917_195597918insG uc003fvu.1 - TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Intron|TNK2_uc003fvs.1_Intron|TNK2_uc003fvt.1_Intron|TNK2_uc010hzw.1_Intron|TNK2_uc003fvv.1_Intron NM_005781 NP_005772 PRKAR1B 5575 broad.mit.edu 37 7 676072 676073 + Intron INS - A A 2011-2265:2012-367-T g.chr7:676072_676073insA uc003siu.1 - PRKAR1B_uc003siv.2_Intron|PRKAR1B_uc003siw.1_Intron NM_002735 NP_002726 C7orf50 84310 broad.mit.edu 37 7 1051325 1051326 + Intron DEL CA - - 2011-2265:2012-367-T g.chr7:1051325_1051326delCA uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 CUX1 1523 broad.mit.edu 37 7 101859967 101859968 + Intron INS - CA CA rs140023316;rs72194495 by1000genomes 2011-2265:2012-367-T g.chr7:101859967_101859968insCA uc003uyx.3 + CUX1_uc003uys.3_Intron|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 NECAB1 64168 broad.mit.edu 37 8 91884331 91884332 + Intron INS - T T 2011-2265:2012-367-T g.chr8:91884331_91884332insT uc011lgg.1 + NM_022351 NP_071746 COL22A1 169044 broad.mit.edu 37 8 139817380 139817381 + Intron DEL GT - - rs147343259 2011-2265:2012-367-T g.chr8:139817380_139817381delGT uc003yvd.2 - NM_152888 NP_690848 HEATR7A 727957 broad.mit.edu 37 8 145288285 145288286 + Intron INS - C C 2011-2265:2012-367-T g.chr8:145288285_145288286insC uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 HEATR7A 727957 broad.mit.edu 37 8 145288352 145288352 + Intron DEL C - - 2011-2265:2012-367-T g.chr8:145288352delC uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 OLFM1 10439 broad.mit.edu 37 9 137983482 137983483 + Intron DEL CA - - 2011-2265:2012-367-T g.chr9:137983482_137983483delCA uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfk.3_Intron|OLFM1_uc004cfm.3_Intron NM_014279 NP_055094 STARD8 9754 broad.mit.edu 37 X 67873455 67873456 + Intron DEL CA - - 2011-2265:2012-367-T g.chrX:67873455_67873456delCA uc004dxa.2 + STARD8_uc004dxb.2_Intron NM_014725 NP_055540 SCNN1D 6339 broad.mit.edu 37 1 1224995 1224996 + Intron INS - CC CC 2011-2266:2012-3270-T g.chr1:1224995_1224996insCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 PRDM16 63976 broad.mit.edu 37 1 3031137 3031137 + Intron DEL C - - 2011-2266:2012-3270-T g.chr1:3031137delC uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 TP73 7161 broad.mit.edu 37 1 3611435 3611436 + Intron INS - C C 2011-2266:2012-3270-T g.chr1:3611435_3611436insC uc001akp.2 + TP73_uc001akq.2_Intron|TP73_uc010nzj.1_Intron|TP73_uc001akr.2_Intron|TP73_uc009vlk.1_Intron|TP73_uc001aks.2_Intron NM_005427 NP_005418 NKAIN1 79570 broad.mit.edu 37 1 31672873 31672874 + Intron DEL CA - - rs12062904 2011-2266:2012-3270-T g.chr1:31672873_31672874delCA uc010ogd.1 - NM_024522 NP_078798 CNST 163882 broad.mit.edu 37 1 246783794 246783795 + Intron DEL TC - - 2011-2266:2012-3270-T g.chr1:246783794_246783795delTC uc001ibp.2 + CNST_uc001ibo.3_Intron NM_152609 NP_689822 CCDC6 8030 broad.mit.edu 37 10 61641922 61641923 + Intron DEL GC - - rs78204333 2011-2266:2012-3270-T g.chr10:61641922_61641923delGC uc001jks.3 - NM_005436 NP_005427 TMEM132D 121256 broad.mit.edu 37 12 129674834 129674834 + Intron DEL A - - 2011-2266:2012-3270-T g.chr12:129674834delA uc009zyl.1 - NM_133448 NP_597705 TMEM132D 121256 broad.mit.edu 37 12 130232115 130232116 + Intron DEL AC - - 2011-2266:2012-3270-T g.chr12:130232115_130232116delAC uc009zyl.1 - NM_133448 NP_597705 PIGQ 9091 broad.mit.edu 37 16 621119 621131 + Intron DEL TGGTGCCCGTGTG - - 2011-2266:2012-3270-T g.chr16:621119_621131delTGGTGCCCGTGTG uc002cho.2 + PIGQ_uc010bqw.2_Intron|PIGQ_uc002chm.2_Intron|PIGQ_uc002chn.2_Intron|PIGQ_uc010uui.1_5'Flank NM_148920 NP_683721 TIMM22 29928 broad.mit.edu 37 17 897483 897483 + 5'Flank DEL C - - rs111389070 2011-2266:2012-3270-T g.chr17:897483delC uc002fsc.2 + NM_013337 NP_037469 FSCN2 25794 broad.mit.edu 37 17 79499476 79499478 + Intron DEL TGA - - 2011-2266:2012-3270-T g.chr17:79499476_79499478delTGA uc010wup.1 + FSCN2_uc010wuo.1_Intron NM_012418 NP_036550 TBCD 6904 broad.mit.edu 37 17 80806756 80806756 + Intron DEL C - - rs67238067 2011-2266:2012-3270-T g.chr17:80806756delC uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 B3GNTL1 146712 broad.mit.edu 37 17 80929874 80929874 + Intron DEL C - - 2011-2266:2012-3270-T g.chr17:80929874delC uc002kgg.1 - B3GNTL1_uc002kgf.1_Intron|B3GNTL1_uc002kge.1_Intron NM_001009905 NP_001009905 KIF1A 547 broad.mit.edu 37 2 241720905 241720908 + Intron DEL GCTC - - 2011-2266:2012-3270-T g.chr2:241720905_241720908delGCTC uc002vzy.2 - KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron NM_004321 NP_004312 RIN2 54453 broad.mit.edu 37 20 19904987 19904988 + Intron INS - C C 2011-2266:2012-3270-T g.chr20:19904987_19904988insC uc002wro.1 + RIN2_uc010gcu.1_Intron NM_018993 NP_061866 RIN2 54453 broad.mit.edu 37 20 19904994 19904995 + Intron DEL CT - - 2011-2266:2012-3270-T g.chr20:19904994_19904995delCT uc002wro.1 + RIN2_uc010gcu.1_Intron NM_018993 NP_061866 JPH2 57158 broad.mit.edu 37 20 42817223 42817223 + 5'Flank DEL G - - rs71195527 2011-2266:2012-3270-T g.chr20:42817223delG uc002xli.1 - JPH2_uc002xlj.2_5'Flank NM_020433 NP_065166 JPH2 57158 broad.mit.edu 37 20 42817225 42817229 + 5'Flank DEL TTCCA - - 2011-2266:2012-3270-T g.chr20:42817225_42817229delTTCCA uc002xli.1 - JPH2_uc002xlj.2_5'Flank NM_020433 NP_065166 JPH2 57158 broad.mit.edu 37 20 42817246 42817246 + 5'Flank DEL T - - 2011-2266:2012-3270-T g.chr20:42817246delT uc002xli.1 - JPH2_uc002xlj.2_5'Flank NM_020433 NP_065166 JPH2 57158 broad.mit.edu 37 20 42817248 42817249 + 5'Flank INS - AA AA 2011-2266:2012-3270-T g.chr20:42817248_42817249insAA uc002xli.1 - JPH2_uc002xlj.2_5'Flank NM_020433 NP_065166 KCNQ2 3785 broad.mit.edu 37 20 62074252 62074253 + Intron INS - CAC CAC 2011-2266:2012-3270-T g.chr20:62074252_62074253insCAC uc002yey.1 - KCNQ2_uc002yez.1_Intron|KCNQ2_uc002yfa.1_Intron|KCNQ2_uc002yfb.1_Intron|KCNQ2_uc011aax.1_Intron|KCNQ2_uc002yfc.1_Intron NM_172107 NP_742105 CHEK2 11200 broad.mit.edu 37 22 29133463 29133463 + Intron DEL T - - 2011-2266:2012-3270-T g.chr22:29133463delT uc003adu.1 - CHEK2_uc003ads.1_5'Flank|CHEK2_uc010gvh.1_5'Flank|CHEK2_uc010gvi.1_5'Flank|CHEK2_uc010gvj.1_5'Flank|CHEK2_uc003adr.1_5'Flank|CHEK2_uc010gvk.1_5'Flank|CHEK2_uc003adt.1_Intron|CHEK2_uc003adv.1_Intron|CHEK2_uc003adw.1_Intron|CHEK2_uc003adx.1_Intron|CHEK2_uc003ady.1_Intron|CHEK2_uc003adz.1_Intron NM_007194 NP_009125 MPPED1 758 broad.mit.edu 37 22 43828758 43828759 + Intron INS - AA AA 2011-2266:2012-3270-T g.chr22:43828758_43828759insAA uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 FAM19A5 25817 broad.mit.edu 37 22 49069868 49069869 + Intron INS - TT TT rs140358066;rs71924051 by1000genomes 2011-2266:2012-3270-T g.chr22:49069868_49069869insTT uc003bim.3 + FAM19A5_uc003bio.3_Intron NM_001082967 NP_001076436 CNTN6 27255 broad.mit.edu 37 3 1269484 1269484 + Intron DEL T - - rs77885836 2011-2266:2012-3270-T g.chr3:1269484delT uc003boz.2 + CNTN6_uc010hbo.2_Intron|CNTN6_uc011asj.1_Intron|CNTN6_uc003bpa.2_Intron NM_014461 NP_055276 PDE6B 5158 broad.mit.edu 37 4 628812 628813 + Intron INS - CCTGCCCA CCTGCCCA 2011-2266:2012-3270-T g.chr4:628812_628813insCCTGCCCA uc003gap.2 + PDE6B_uc003gao.3_Intron NM_000283 NP_000274 CEP72 55722 broad.mit.edu 37 5 650700 650705 + Intron DEL TGTGGG - - 2011-2266:2012-3270-T g.chr5:650700_650705delTGTGGG uc003jbf.2 + NM_018140 NP_060610 CTNND2 1501 broad.mit.edu 37 5 11241120 11241120 + Intron DEL C - - 2011-2266:2012-3270-T g.chr5:11241120delC uc003jfa.1 - CTNND2_uc010itt.2_Intron|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_Intron NM_001332 NP_001323 SMOC2 64094 broad.mit.edu 37 6 169014533 169014534 + Intron DEL GG - - 2011-2266:2012-3270-T g.chr6:169014533_169014534delGG uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 ADAP1 11033 broad.mit.edu 37 7 945360 945361 + Intron INS - A A rs147722082 by1000genomes 2011-2266:2012-3270-T g.chr7:945360_945361insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945373 945374 + Intron INS - A A 2011-2266:2012-3270-T g.chr7:945373_945374insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 946211 946212 + Intron INS - A A 2011-2266:2012-3270-T g.chr7:946211_946212insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PRKAG2 51422 broad.mit.edu 37 7 151539395 151539396 + Intron INS - GGTA GGTA 2011-2266:2012-3270-T g.chr7:151539395_151539396insGGTA uc003wkk.2 - PRKAG2_uc010lqe.1_Intron|PRKAG2_uc003wkm.1_Intron NM_016203 NP_057287 NCAPG2 54892 broad.mit.edu 37 7 158460473 158460473 + Intron DEL C - - 2011-2266:2012-3270-T g.chr7:158460473delC uc003wnv.1 - NCAPG2_uc010lqu.1_Intron|NCAPG2_uc003wnw.1_Intron|NCAPG2_uc003wnx.1_Intron|NCAPG2_uc011kwe.1_Intron|NCAPG2_uc011kwc.1_5'Flank NM_017760 NP_060230 ERICH1 157697 broad.mit.edu 37 8 626446 626446 + Intron DEL G - - 2011-2266:2012-3270-T g.chr8:626446delG uc003wph.2 - ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron|ERICH1_uc003wpi.2_5'Flank NM_207332 NP_997215 PPP4R4 57718 broad.mit.edu 37 14 94684921 94684922 + Intron DEL CA - - 2011-2267:2012-369-T g.chr14:94684921_94684922delCA uc001ycs.1 + PPP4R4_uc001ycr.2_Intron NM_058237 NP_478144 AMN 81693 broad.mit.edu 37 14 103386045 103386046 + 5'Flank INS - C C 2011-2267:2012-369-T g.chr14:103386045_103386046insC uc001ymg.3 + NM_030943 NP_112205 ADAMTS17 170691 broad.mit.edu 37 15 100598506 100598507 + Intron INS - T T rs150896439;rs68090700 by1000genomes 2011-2267:2012-369-T g.chr15:100598506_100598507insT uc002bvv.1 - NM_139057 NP_620688 RAB11FIP3 9727 broad.mit.edu 37 16 554512 554513 + Intron INS - G G 2011-2267:2012-369-T g.chr16:554512_554513insG uc002chf.2 + RAB11FIP3_uc010uuf.1_Intron|RAB11FIP3_uc010uug.1_Intron NM_014700 NP_055515 RPH3AL 9501 broad.mit.edu 37 17 165232 165233 + Intron INS - T T rs75684030 2011-2267:2012-369-T g.chr17:165232_165233insT uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 TIMM22 29928 broad.mit.edu 37 17 897516 897519 + 5'Flank DEL ACAT - - rs144033044;rs77497403 2011-2267:2012-369-T g.chr17:897516_897519delACAT uc002fsc.2 + NM_013337 NP_037469 RNF165 494470 broad.mit.edu 37 18 43977417 43977418 + Intron DEL GT - - 2011-2267:2012-369-T g.chr18:43977417_43977418delGT uc002lcb.1 + RNF165_uc002lby.1_Intron|RNF165_uc010dnn.1_Intron NM_152470 NP_689683 SBNO2 22904 broad.mit.edu 37 19 1164624 1164626 + Intron DEL AGG - - 2011-2267:2012-369-T g.chr19:1164624_1164626delAGG uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 CLTCL1 8218 broad.mit.edu 37 22 19189912 19189912 + Intron DEL C - - 2011-2267:2012-369-T g.chr22:19189912delC uc002zpb.2 - CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Intron|CLTCL1_uc011agt.1_Intron|CLTCL1_uc011agu.1_Intron|CLTCL1_uc010grm.1_Intron|CLTCL1_uc002zpe.2_Intron|CLTCL1_uc002zpd.1_Intron NM_007098 NP_009029 CLTCL1 8218 broad.mit.edu 37 22 19189983 19189984 + Intron INS - C C rs12172332 by1000genomes 2011-2267:2012-369-T g.chr22:19189983_19189984insC uc002zpb.2 - CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Intron|CLTCL1_uc011agt.1_Intron|CLTCL1_uc011agu.1_Intron|CLTCL1_uc010grm.1_Intron|CLTCL1_uc002zpe.2_Intron|CLTCL1_uc002zpd.1_Intron NM_007098 NP_009029 EP300 2033 broad.mit.edu 37 22 41548519 41548520 + Intron INS - T T 2011-2267:2012-369-T g.chr22:41548519_41548520insT uc003azl.3 + NM_001429 NP_001420 CACNA1D 776 broad.mit.edu 37 3 53840015 53840018 + Intron DEL CGTT - - 2011-2267:2012-369-T g.chr3:53840015_53840018delCGTT uc003dgv.3 + CACNA1D_uc003dgu.3_Intron|CACNA1D_uc003dgy.3_Intron|CACNA1D_uc003dgw.3_Intron|CACNA1D_uc011bes.1_Intron NM_001128840 NP_001122312 FAM65B 9750 broad.mit.edu 37 6 24927555 24927557 + Intron DEL CAC - - rs71738567 2011-2267:2012-369-T g.chr6:24927555_24927557delCAC uc011djs.1 - FAM65B_uc011dju.1_Intron NM_015864 NP_056948 CACNG7 59284 broad.mit.edu 37 19 54426399 54426400 + Intron INS - T T 2011-2268:2012-368-T g.chr19:54426399_54426400insT uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 MLPH 79083 broad.mit.edu 37 2 238451965 238451965 + Intron DEL C - - 2011-2268:2012-368-T g.chr2:238451965delC uc002vwt.2 + MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Intron|MLPH_uc002vwu.2_Intron|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Intron|MLPH_uc010fyu.2_Intron NM_024101 NP_077006 KIF1A 547 broad.mit.edu 37 2 241720266 241720267 + Intron DEL CA - - rs72032076 2011-2268:2012-368-T g.chr2:241720266_241720267delCA uc002vzy.2 - KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron NM_004321 NP_004312 KCNQ2 3785 broad.mit.edu 37 20 62074268 62074270 + Intron DEL CAT - - 2011-2268:2012-368-T g.chr20:62074268_62074270delCAT uc002yey.1 - KCNQ2_uc002yez.1_Intron|KCNQ2_uc002yfa.1_Intron|KCNQ2_uc002yfb.1_Intron|KCNQ2_uc011aax.1_Intron|KCNQ2_uc002yfc.1_Intron NM_172107 NP_742105 PALLD 23022 broad.mit.edu 37 4 169600527 169600528 + Intron DEL GT - - 2011-2268:2012-368-T g.chr4:169600527_169600528delGT uc011cjx.1 + PALLD_uc003iru.2_Intron|PALLD_uc003irv.2_Intron NM_016081 NP_057165 SLC12A7 10723 broad.mit.edu 37 5 1070888 1070888 + Intron DEL C - - 2011-2268:2012-368-T g.chr5:1070888delC uc003jbu.2 - NM_006598 NP_006589 ADAP1 11033 broad.mit.edu 37 7 945879 945879 + Intron DEL A - - 2011-2268:2012-368-T g.chr7:945879delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 982328 982329 + Intron INS - GAGA GAGA 2011-2268:2012-368-T g.chr7:982328_982329insGAGA uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 982959 982962 + Intron DEL AGGG - - 2011-2268:2012-368-T g.chr7:982959_982962delAGGG uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 CUX1 1523 broad.mit.edu 37 7 101860085 101860086 + Intron INS - TCT TCT rs380576 2011-2268:2012-368-T g.chr7:101860085_101860086insTCT uc003uyx.3 + CUX1_uc003uys.3_Intron|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 CUX1 1523 broad.mit.edu 37 7 101860088 101860089 + Intron INS - A A 2011-2268:2012-368-T g.chr7:101860088_101860089insA uc003uyx.3 + CUX1_uc003uys.3_Intron|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 PTPRN2 5799 broad.mit.edu 37 7 158066377 158066378 + Intron INS - GG GG 2011-2268:2012-368-T g.chr7:158066377_158066378insGG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ARHGEF10 9639 broad.mit.edu 37 8 1780924 1780925 + Intron DEL AC - - 2011-2268:2012-368-T g.chr8:1780924_1780925delAC uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 HEATR7A 727957 broad.mit.edu 37 8 145288431 145288432 + Intron INS - C C rs11435979;rs66838432 2011-2268:2012-368-T g.chr8:145288431_145288432insC uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 SMC5 23137 broad.mit.edu 37 9 72924062 72924063 + Intron INS - T T 2011-2268:2012-368-T g.chr9:72924062_72924063insT uc004ahr.2 + NM_015110 NP_055925 NOTCH2 4853 broad.mit.edu 37 1 120510819 120510819 + Frame_Shift_Del DEL T - - 2011-2269:2012-1328-T g.chr1:120510819delT uc001eik.2 - 7 1401 c.1145delA c.(1144-1146)AATfs p.N382fs NOTCH2_uc001eil.2_Frame_Shift_Del_p.N382fs|NOTCH2_uc001eim.3_Frame_Shift_Del_p.N299fs NM_024408 NP_077719 KIF21B 23046 broad.mit.edu 37 1 200976478 200976481 + Intron DEL ACAT - - 2011-2269:2012-1328-T g.chr1:200976478_200976481delACAT uc001gvs.1 - KIF21B_uc001gvr.1_Intron|KIF21B_uc009wzl.1_Intron|KIF21B_uc010ppn.1_Intron|KIF21B_uc001gvt.1_5'Flank NM_017596 NP_060066 ODF3 113746 broad.mit.edu 37 11 196020 196021 + 5'Flank INS - G G 2011-2269:2012-1328-T g.chr11:196020_196021insG uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 MUC6 4588 broad.mit.edu 37 11 1039046 1039047 + 5'Flank INS - GT GT rs142250331;rs140637993 by1000genomes 2011-2269:2012-1328-T g.chr11:1039046_1039047insGT uc001lsw.2 - NM_005961 NP_005952 MUC5B 727897 broad.mit.edu 37 11 1284074 1284075 + Intron INS - T T rs138761334 by1000genomes 2011-2269:2012-1328-T g.chr11:1284074_1284075insT uc009ycr.1 + NM_017511 NP_059981 CACNG7 59284 broad.mit.edu 37 19 54428318 54428318 + Intron DEL C - - rs67813703 2011-2269:2012-1328-T g.chr19:54428318delC uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 ACAD11 84129 broad.mit.edu 37 3 132360440 132360441 + Intron INS - GAGGAG GAGGAG rs113942550;rs71938221 by1000genomes 2011-2269:2012-1328-T g.chr3:132360440_132360441insGAGGAG uc003eov.3 - ACAD11_uc003eoy.2_Intron NM_032169 NP_115545 TERT 7015 broad.mit.edu 37 5 1273752 1273753 + Intron INS - A A 2011-2269:2012-1328-T g.chr5:1273752_1273753insA uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 TERT 7015 broad.mit.edu 37 5 1273755 1273760 + Intron DEL GGACCA - - rs72427652;rs112889730 2011-2269:2012-1328-T g.chr5:1273755_1273760delGGACCA uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 PDZD2 23037 broad.mit.edu 37 5 32003485 32003486 + Intron INS - C C 2011-2269:2012-1328-T g.chr5:32003485_32003486insC uc003jhl.2 + PDZD2_uc003jhm.2_Intron|PDZD2_uc011cnx.1_Intron NM_178140 NP_835260 RASA1 5921 broad.mit.edu 37 5 86672243 86672260 + In_Frame_Del DEL AAGGGCATGCCACAGATG - - 2011-2269:2012-1328-T g.chr5:86672243_86672260delAAGGGCATGCCACAGATG uc003kiw.2 + 16 2163_2180 c.2045_2062delAAGGGCATGCCACAGATG c.(2044-2064)AAAGGGCATGCCACAGATGAA>AAA p.GHATDE683del RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_In_Frame_Del_p.GHATDE506del|RASA1_uc011ctv.1_In_Frame_Del_p.GHATDE516del|RASA1_uc011ctw.1_In_Frame_Del_p.GHATDE517del|RASA1_uc010jaw.2_In_Frame_Del_p.GHATDE505del NM_002890 NP_002881 TCP10 6953 broad.mit.edu 37 6 167800596 167800597 + 5'Flank INS - TG TG rs146082966;rs140039175 2011-2269:2012-1328-T g.chr6:167800596_167800597insTG uc003qvv.1 - TCP10_uc003qvu.2_5'Flank|TCP10_uc003qvw.2_5'Flank NM_004610 NP_004601 ADAP1 11033 broad.mit.edu 37 7 945964 945965 + Intron INS - A A 2011-2269:2012-1328-T g.chr7:945964_945965insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945984 945985 + Intron INS - A A 2011-2269:2012-1328-T g.chr7:945984_945985insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 982905 982908 + Intron DEL AGGG - - 2011-2269:2012-1328-T g.chr7:982905_982908delAGGG uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 TRPM3 80036 broad.mit.edu 37 9 74035716 74035717 + Intron DEL AA - - rs149832494 by1000genomes 2011-2269:2012-1328-T g.chr9:74035716_74035717delAA uc004aii.2 - NM_206948 NP_996831 GOLGA1 2800 broad.mit.edu 37 9 127658102 127658102 + Intron DEL A - - 2011-2269:2012-1328-T g.chr9:127658102delA uc004bpc.2 - GOLGA1_uc010mws.2_Intron NM_002077 NP_002068 COL5A1 1289 broad.mit.edu 37 9 137577353 137577359 + Intron DEL TCACCAT - - rs143525729;rs140307113 by1000genomes 2011-2269:2012-1328-T g.chr9:137577353_137577359delTCACCAT uc004cfe.2 + NM_000093 NP_000084 MUC2 4583 broad.mit.edu 37 11 1078984 1078985 + Intron INS - TGT TGT rs72168941 2011-2270:2012-310-T g.chr11:1078984_1078985insTGT uc001lsx.1 + NM_002457 NP_002448 CRYL1 51084 broad.mit.edu 37 13 21071551 21071553 + Intron DEL ACA - - 2011-2270:2012-310-T g.chr13:21071551_21071553delACA uc001une.2 - CRYL1_uc001unf.2_Intron|CRYL1_uc001ung.2_Intron NM_015974 NP_057058 RASA3 22821 broad.mit.edu 37 13 114785307 114785308 + Intron INS - C C 2011-2270:2012-310-T g.chr13:114785307_114785308insC uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron NM_007368 NP_031394 RPH3AL 9501 broad.mit.edu 37 17 136784 136785 + Intron INS - CT CT 2011-2270:2012-310-T g.chr17:136784_136785insCT uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 ACACA 31 broad.mit.edu 37 17 35456343 35456343 + Intron DEL A - - 2011-2270:2012-310-T g.chr17:35456343delA uc002hnm.2 - ACACA_uc002hnk.2_Intron|ACACA_uc002hnl.2_Intron|ACACA_uc002hnn.2_Intron|ACACA_uc002hno.2_Intron|ACACA_uc010cuy.2_Intron|ACACA_uc010wdb.1_Intron|ACACA_uc010wdc.1_Intron NM_198836 NP_942133 RFX2 5990 broad.mit.edu 37 19 6070174 6070179 + Intron DEL GGATGT - - rs150868571 by1000genomes 2011-2270:2012-310-T g.chr19:6070174_6070179delGGATGT uc002meb.2 - RFX2_uc002mec.2_Intron|RFX2_uc010xiy.1_Intron NM_000635 NP_000626 CACNG7 59284 broad.mit.edu 37 19 54424013 54424013 + Intron DEL T - - 2011-2270:2012-310-T g.chr19:54424013delT uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 RAB3GAP1 22930 broad.mit.edu 37 2 135875415 135875416 + Intron INS - GC GC 2011-2270:2012-310-T g.chr2:135875415_135875416insGC uc002tuj.2 + RAB3GAP1_uc010fnf.2_Intron|RAB3GAP1_uc010fng.2_Intron|RAB3GAP1_uc010fnh.1_Intron NM_012233 NP_036365 EEF1A2 1917 broad.mit.edu 37 20 62123743 62123744 + Intron INS - GAGA GAGA rs141168057 2011-2270:2012-310-T g.chr20:62123743_62123744insGAGA uc002yfd.1 - EEF1A2_uc002yfe.1_Intron|EEF1A2_uc010gkg.1_Intron NM_001958 NP_001949 TNK2 10188 broad.mit.edu 37 3 195597844 195597844 + Intron DEL G - - 2011-2270:2012-310-T g.chr3:195597844delG uc003fvu.1 - TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Intron|TNK2_uc003fvs.1_Intron|TNK2_uc003fvt.1_Intron|TNK2_uc010hzw.1_Intron|TNK2_uc003fvv.1_Intron NM_005781 NP_005772 WHSC1 7468 broad.mit.edu 37 4 1940929 1940929 + Intron DEL A - - 2011-2270:2012-310-T g.chr4:1940929delA uc003gdz.3 + WHSC1_uc003geb.3_Intron|WHSC1_uc003gec.3_Intron|WHSC1_uc003ged.3_Intron|WHSC1_uc003gee.3_Intron|WHSC1_uc003gef.3_Intron|WHSC1_uc003gei.3_5'Flank|WHSC1_uc003gdy.1_Intron|WHSC1_uc010icd.1_Intron|WHSC1_uc003gea.1_Intron|WHSC1_uc010ice.1_Intron|WHSC1_uc003geh.1_Intron NM_001042424 NP_001035889 SLC12A7 10723 broad.mit.edu 37 5 1071508 1071509 + Intron INS - G G 2011-2270:2012-310-T g.chr5:1071508_1071509insG uc003jbu.2 - NM_006598 NP_006589 CAMK2B 816 broad.mit.edu 37 7 44346552 44346552 + Intron DEL G - - 2011-2270:2012-310-T g.chr7:44346552delG uc003tkq.2 - CAMK2B_uc003tkp.2_Intron|CAMK2B_uc003tkx.2_Intron|CAMK2B_uc010kyd.2_Intron|CAMK2B_uc003tkr.2_Intron|CAMK2B_uc003tks.2_Intron|CAMK2B_uc003tku.2_Intron|CAMK2B_uc003tkv.2_Intron|CAMK2B_uc003tkt.2_Intron|CAMK2B_uc003tkw.2_Intron|CAMK2B_uc010kyc.2_Intron NM_001220 NP_001211 UNC5D 137970 broad.mit.edu 37 8 35452960 35452961 + Intron DEL TG - - 2011-2270:2012-310-T g.chr8:35452960_35452961delTG uc003xjr.1 + UNC5D_uc003xjs.1_Intron NM_080872 NP_543148 SHOX 6473 broad.mit.edu 37 X 583531 583531 + 5'Flank DEL G - - 2011-2270:2012-310-T g.chrX:583531delG uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 ACADS 35 broad.mit.edu 37 12 121170223 121170224 + Intron INS - T T 2011-2271:2012-328-T g.chr12:121170223_121170224insT uc001tza.3 + ACADS_uc010szl.1_Intron NM_000017 NP_000008 RASA3 22821 broad.mit.edu 37 13 114761573 114761574 + Intron INS - G G 2011-2271:2012-328-T g.chr13:114761573_114761574insG uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron NM_007368 NP_031394 PPP4R4 57718 broad.mit.edu 37 14 94684770 94684771 + Intron DEL CA - - 2011-2271:2012-328-T g.chr14:94684770_94684771delCA uc001ycs.1 + PPP4R4_uc001ycr.2_Intron NM_058237 NP_478144 DPEP1 1800 broad.mit.edu 37 16 89701002 89701003 + Intron INS - C C 2011-2271:2012-328-T g.chr16:89701002_89701003insC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701156 89701156 + Intron DEL T - - 2011-2271:2012-328-T g.chr16:89701156delT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 PTPRM 5797 broad.mit.edu 37 18 7692012 7692013 + Intron INS - G G 2011-2271:2012-328-T g.chr18:7692012_7692013insG uc002knn.3 + PTPRM_uc010dkv.2_Intron NM_002845 NP_002836 SBNO2 22904 broad.mit.edu 37 19 1165902 1165902 + Intron DEL C - - 2011-2271:2012-328-T g.chr19:1165902delC uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 C20orf26 26074 broad.mit.edu 37 20 20336820 20336820 + Intron DEL G - - 2011-2271:2012-328-T g.chr20:20336820delG uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 COL18A1 80781 broad.mit.edu 37 21 46920870 46920873 + Intron DEL GTGT - - 2011-2271:2012-328-T g.chr21:46920870_46920873delGTGT uc011afs.1 + COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Intron|SLC19A1_uc010gpy.1_Intron NM_130444 NP_569711 RNF130 55819 broad.mit.edu 37 5 179442619 179442619 + Intron DEL G - - rs66616765 2011-2271:2012-328-T g.chr5:179442619delG uc003mll.1 - RNF130_uc003mlm.1_Intron|MIR340_hsa-mir-340|MI0000802_5'Flank|uc003mln.2_5'Flank NM_018434 NP_060904 ADAP1 11033 broad.mit.edu 37 7 945239 945239 + Intron DEL A - - 2011-2271:2012-328-T g.chr7:945239delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 GRM8 2918 broad.mit.edu 37 7 126883752 126883752 + 5'Flank DEL T - - 2011-2271:2012-328-T g.chr7:126883752delT uc003vlr.2 - GRM8_uc003vls.2_5'Flank|GRM8_uc011kof.1_5'Flank|GRM8_uc003vlt.2_Intron|GRM8_uc010lkz.1_Intron NM_000845 NP_000836 PKHD1L1 93035 broad.mit.edu 37 8 110456778 110456778 + Intron DEL A - - rs35472310 2011-2271:2012-328-T g.chr8:110456778delA uc003yne.2 + NM_177531 NP_803875 ARHGAP39 80728 broad.mit.edu 37 8 145913147 145913147 + 5'Flank DEL T - - rs2956178 2011-2271:2012-328-T g.chr8:145913147delT uc011llk.1 - NM_025251 NP_079527 JAK2 3717 broad.mit.edu 37 9 5073682 5073682 + Intron DEL T - - 2011-2271:2012-328-T g.chr9:5073682delT uc010mhm.2 + JAK2_uc003ziw.2_Intron NM_004972 NP_004963 ASTN1 460 broad.mit.edu 37 1 176977694 176977695 + Intron DEL CA - - 2011-2273:2012-370-T g.chr1:176977694_176977695delCA uc001glc.2 - ASTN1_uc001glb.1_Intron|ASTN1_uc001gld.1_Intron|ASTN1_uc009wwx.1_Intron|ASTN1_uc001gle.3_Intron NM_004319 NP_004310 ASTN1 460 broad.mit.edu 37 1 176977703 176977704 + Intron INS - AGAC AGAC 2011-2273:2012-370-T g.chr1:176977703_176977704insAGAC uc001glc.2 - ASTN1_uc001glb.1_Intron|ASTN1_uc001gld.1_Intron|ASTN1_uc009wwx.1_Intron|ASTN1_uc001gle.3_Intron NM_004319 NP_004310 SAPS3 55291 broad.mit.edu 37 11 68373795 68373798 + Intron DEL TTCT - - 2011-2273:2012-370-T g.chr11:68373795_68373798delTTCT uc001onw.2 + SAPS3_uc001onv.2_Intron|SAPS3_uc001ony.3_Intron|SAPS3_uc001onx.2_Intron|SAPS3_uc009ysh.2_Intron|SAPS3_uc001onu.2_Intron|SAPS3_uc010rqc.1_Intron|SAPS3_uc010rqd.1_Intron|SAPS3_uc001onz.2_Intron|SAPS3_uc001ooa.2_Intron NM_001164161 NP_001157633 FAT3 120114 broad.mit.edu 37 11 92438785 92438786 + Intron DEL GT - - 2011-2273:2012-370-T g.chr11:92438785_92438786delGT uc001pdj.3 + NM_001008781 NP_001008781 FAT3 120114 broad.mit.edu 37 11 92438806 92438810 + Intron DEL GTGGT - - rs145584143 by1000genomes 2011-2273:2012-370-T g.chr11:92438806_92438810delGTGGT uc001pdj.3 + NM_001008781 NP_001008781 ALDH1A3 220 broad.mit.edu 37 15 101449686 101449687 + Intron INS - TA TA rs67757406 2011-2273:2012-370-T g.chr15:101449686_101449687insTA uc002bwn.3 + ALDH1A3_uc010bpb.2_Intron|uc002bwo.1_Intron NM_000693 NP_000684 BAHCC1 57597 broad.mit.edu 37 17 79399350 79399350 + Intron DEL G - - 2011-2273:2012-370-T g.chr17:79399350delG uc002kaf.2 + NM_001080519 NP_001073988 TYMS 7298 broad.mit.edu 37 18 666897 666898 + Intron INS - GATGGA GATGGA rs150032974 by1000genomes 2011-2273:2012-370-T g.chr18:666897_666898insGATGGA uc010dka.1 + TYMS_uc010dkb.1_Intron|TYMS_uc010dkc.1_Intron NM_001071 NP_001062 ZNF236 7776 broad.mit.edu 37 18 74679601 74679602 + Intron INS - G G rs57351683 2011-2273:2012-370-T g.chr18:74679601_74679602insG uc002lmi.2 + ZNF236_uc002lmj.2_Intron NM_007345 NP_031371 SNTG2 54221 broad.mit.edu 37 2 1285168 1285169 + Intron DEL TT - - rs145298361 by1000genomes 2011-2273:2012-370-T g.chr2:1285168_1285169delTT uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 TSSC1 7260 broad.mit.edu 37 2 3203578 3203579 + Intron INS - GA GA rs142971768 by1000genomes 2011-2273:2012-370-T g.chr2:3203578_3203579insGA uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 MLPH 79083 broad.mit.edu 37 2 238452034 238452035 + Intron DEL GA - - 2011-2273:2012-370-T g.chr2:238452034_238452035delGA uc002vwt.2 + MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Intron|MLPH_uc002vwu.2_Intron|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Intron|MLPH_uc010fyu.2_Intron NM_024101 NP_077006 KIF1A 547 broad.mit.edu 37 2 241720215 241720216 + Intron INS - CA CA rs66459875 2011-2273:2012-370-T g.chr2:241720215_241720216insCA uc002vzy.2 - KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron NM_004321 NP_004312 KIF1A 547 broad.mit.edu 37 2 241720600 241720601 + Intron DEL CC - - 2011-2273:2012-370-T g.chr2:241720600_241720601delCC uc002vzy.2 - KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron NM_004321 NP_004312 AGXT 189 broad.mit.edu 37 2 241811807 241811809 + Intron DEL GGT - - rs62189565 by1000genomes 2011-2273:2012-370-T g.chr2:241811807_241811809delGGT uc002waa.3 + AGXT_uc010zoi.1_Intron NM_000030 NP_000021 JPH2 57158 broad.mit.edu 37 20 42817236 42817237 + 5'Flank INS - GTGT GTGT rs146680085 by1000genomes 2011-2273:2012-370-T g.chr20:42817236_42817237insGTGT uc002xli.1 - JPH2_uc002xlj.2_5'Flank NM_020433 NP_065166 GMEB2 26205 broad.mit.edu 37 20 62240289 62240290 + Intron INS - A A rs76601806;rs71300921 2011-2273:2012-370-T g.chr20:62240289_62240290insA uc002yfp.1 - GMEB2_uc002yfq.1_Intron NM_012384 NP_036516 AGPAT3 56894 broad.mit.edu 37 21 45378631 45378632 + Intron INS - GT GT rs150442055 by1000genomes 2011-2273:2012-370-T g.chr21:45378631_45378632insGT uc002zdv.2 + AGPAT3_uc002zdw.2_Intron|AGPAT3_uc002zdx.2_Intron|AGPAT3_uc002zdy.2_5'Flank NM_020132 NP_064517 TRPM2 7226 broad.mit.edu 37 21 45816126 45816126 + Intron DEL G - - 2011-2273:2012-370-T g.chr21:45816126delG uc002zet.1 + TRPM2_uc002zeu.1_Intron|TRPM2_uc002zew.1_Intron|TRPM2_uc010gpt.1_Intron|TRPM2_uc002zex.1_Intron|TRPM2_uc002zey.1_Intron NM_003307 NP_003298 COL18A1 80781 broad.mit.edu 37 21 46920830 46920835 + Intron DEL GTGTGT - - 2011-2273:2012-370-T g.chr21:46920830_46920835delGTGTGT uc011afs.1 + COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Intron|SLC19A1_uc010gpy.1_Intron NM_130444 NP_569711 TOM1 10043 broad.mit.edu 37 22 35739336 35739337 + Intron INS - CA CA rs144221305 2011-2273:2012-370-T g.chr22:35739336_35739337insCA uc003ann.2 + TOM1_uc011ami.1_Intron|TOM1_uc011amj.1_Intron|TOM1_uc003ans.2_Intron|TOM1_uc011amk.1_Intron|TOM1_uc003anp.2_Intron|TOM1_uc011aml.1_Intron|TOM1_uc003ano.2_Intron|TOM1_uc003anq.2_Intron|TOM1_uc003anr.2_Intron NM_005488 NP_005479 TTLL8 164714 broad.mit.edu 37 22 50467619 50467620 + Intron INS - C C rs11419811 2011-2273:2012-370-T g.chr22:50467619_50467620insC uc011ark.1 - NM_001080447 NP_001073916 GRK7 131890 broad.mit.edu 37 3 141529205 141529206 + Intron INS - C C rs150439476 by1000genomes 2011-2273:2012-370-T g.chr3:141529205_141529206insC uc011bnd.1 + NM_139209 NP_631948 CEP72 55722 broad.mit.edu 37 5 650334 650335 + Intron DEL TG - - 2011-2273:2012-370-T g.chr5:650334_650335delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650518 650519 + Intron INS - G G 2011-2273:2012-370-T g.chr5:650518_650519insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650696 650697 + Intron INS - G G 2011-2273:2012-370-T g.chr5:650696_650697insG uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1071524 1071525 + Intron INS - AGCCCCCAGTG AGCCCCCAGTG 2011-2273:2012-370-T g.chr5:1071524_1071525insAGCCCCCAGTG uc003jbu.2 - NM_006598 NP_006589 SLC12A7 10723 broad.mit.edu 37 5 1072799 1072799 + Intron DEL T - - 2011-2273:2012-370-T g.chr5:1072799delT uc003jbu.2 - NM_006598 NP_006589 TERT 7015 broad.mit.edu 37 5 1272757 1272758 + Intron DEL CA - - 2011-2273:2012-370-T g.chr5:1272757_1272758delCA uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 TERT 7015 broad.mit.edu 37 5 1272829 1272830 + Intron DEL CA - - 2011-2273:2012-370-T g.chr5:1272829_1272830delCA uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 C7orf50 84310 broad.mit.edu 37 7 1042153 1042154 + Intron INS - A A 2011-2273:2012-370-T g.chr7:1042153_1042154insA uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 C7orf50 84310 broad.mit.edu 37 7 1042154 1042155 + Intron INS - T T 2011-2273:2012-370-T g.chr7:1042154_1042155insT uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 C7orf50 84310 broad.mit.edu 37 7 1042525 1042526 + Intron INS - G G 2011-2273:2012-370-T g.chr7:1042525_1042526insG uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 TBXAS1 6916 broad.mit.edu 37 7 139565373 139565374 + Intron INS - AA AA 2011-2273:2012-370-T g.chr7:139565373_139565374insAA uc011kqv.1 + TBXAS1_uc003vvh.2_Intron|TBXAS1_uc010lne.2_Intron|TBXAS1_uc011kqu.1_Intron|TBXAS1_uc003vvi.2_Intron|TBXAS1_uc003vvj.2_Intron|TBXAS1_uc011kqw.1_Intron|TBXAS1_uc011kqx.1_Intron NM_001130966 NP_001124438 MLL3 58508 broad.mit.edu 37 7 151852964 151852964 + Intron DEL A - - 2011-2273:2012-370-T g.chr7:151852964delA uc003wla.2 - MLL3_uc003wkz.2_Intron|MLL3_uc003wkx.2_Intron|MLL3_uc003wky.2_Intron NM_170606 NP_733751 HEATR7A 727957 broad.mit.edu 37 8 145288395 145288395 + Intron DEL C - - 2011-2273:2012-370-T g.chr8:145288395delC uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 ZNF16 7564 broad.mit.edu 37 8 146171919 146171919 + Intron DEL G - - rs67881920 2011-2273:2012-370-T g.chr8:146171919delG uc003zet.2 - ZNF16_uc003zeu.2_Intron NM_001029976 NP_001025147 EHMT1 79813 broad.mit.edu 37 9 140610784 140610786 + Intron DEL GTG - - 2011-2273:2012-370-T g.chr9:140610784_140610786delGTG uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 EHMT1 79813 broad.mit.edu 37 9 140610799 140610800 + Intron INS - G G 2011-2273:2012-370-T g.chr9:140610799_140610800insG uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 STARD8 9754 broad.mit.edu 37 X 67872964 67872965 + Intron DEL CA - - 2011-2273:2012-370-T g.chrX:67872964_67872965delCA uc004dxa.2 + STARD8_uc004dxb.2_Intron NM_014725 NP_055540 PRKCZ 5590 broad.mit.edu 37 1 2086882 2086884 + Intron DEL TGA - - 2011-2275:2012-365-T g.chr1:2086882_2086884delTGA uc001aiq.2 + PRKCZ_uc001air.2_Intron|PRKCZ_uc010nyw.1_Intron|PRKCZ_uc001ais.2_Intron|PRKCZ_uc009vla.2_Intron|PRKCZ_uc010nyx.1_Intron|PRKCZ_uc009vlb.2_Intron NM_002744 NP_002735 MMEL1 79258 broad.mit.edu 37 1 2566393 2566396 + 5'Flank DEL CACT - - rs6657286 2011-2275:2012-365-T g.chr1:2566393_2566396delCACT uc001ajy.2 - NM_033467 NP_258428 SYT2 127833 broad.mit.edu 37 1 202594066 202594067 + Intron INS - G G rs148638021 2011-2275:2012-365-T g.chr1:202594066_202594067insG uc001gye.2 - SYT2_uc010pqb.1_Intron|SYT2_uc009xaf.2_Intron NM_001136504 NP_001129976 SYT2 127833 broad.mit.edu 37 1 202594067 202594068 + Intron INS - C C rs148638021 2011-2275:2012-365-T g.chr1:202594067_202594068insC uc001gye.2 - SYT2_uc010pqb.1_Intron|SYT2_uc009xaf.2_Intron NM_001136504 NP_001129976 NCOR2 9612 broad.mit.edu 37 12 124916022 124916023 + Intron DEL AC - - rs1244097 2011-2275:2012-365-T g.chr12:124916022_124916023delAC uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 CUL4A 8451 broad.mit.edu 37 13 113886381 113886382 + Intron INS - C C 2011-2275:2012-365-T g.chr13:113886381_113886382insC uc010tjy.1 + CUL4A_uc010tjx.1_Intron|CUL4A_uc010agu.2_Intron|CUL4A_uc001vtl.1_5'Flank NM_001008895 NP_001008895 CUL4A 8451 broad.mit.edu 37 13 113886382 113886383 + Intron INS - GC GC 2011-2275:2012-365-T g.chr13:113886382_113886383insGC uc010tjy.1 + CUL4A_uc010tjx.1_Intron|CUL4A_uc010agu.2_Intron|CUL4A_uc001vtl.1_5'Flank NM_001008895 NP_001008895 RASA3 22821 broad.mit.edu 37 13 114749495 114749496 + Intron INS - CCT CCT rs142618390;rs67877370 by1000genomes 2011-2275:2012-365-T g.chr13:114749495_114749496insCCT uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron NM_007368 NP_031394 RASA3 22821 broad.mit.edu 37 13 114873759 114873760 + Intron INS - TG TG 2011-2275:2012-365-T g.chr13:114873759_114873760insTG uc001vui.2 - RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron NM_007368 NP_031394 SMOC1 64093 broad.mit.edu 37 14 70391519 70391519 + Intron DEL G - - 2011-2275:2012-365-T g.chr14:70391519delG uc001xls.1 + SMOC1_uc001xlt.1_Intron NM_022137 NP_071420 TBCD 6904 broad.mit.edu 37 17 80807066 80807067 + Intron INS - C C rs57484051 2011-2275:2012-365-T g.chr17:80807066_80807067insC uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 SBNO2 22904 broad.mit.edu 37 19 1164603 1164605 + Intron DEL AGG - - 2011-2275:2012-365-T g.chr19:1164603_1164605delAGG uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 ZNF558 148156 broad.mit.edu 37 19 8933976 8933976 + 5'Flank DEL T - - rs34890882 2011-2275:2012-365-T g.chr19:8933976delT uc002mkn.1 - ZNF558_uc010xkh.1_5'Flank|ZNF558_uc010dwg.1_Intron NM_144693 NP_653294 RMND5A 64795 broad.mit.edu 37 2 87643652 87643652 + Intron DEL A - - 2011-2275:2012-365-T g.chr2:87643652delA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87643656 87643659 + Intron DEL CAGT - - 2011-2275:2012-365-T g.chr2:87643656_87643659delCAGT uc002srs.3 + NFE2L2 4780 broad.mit.edu 37 2 178214406 178214407 + Intron INS - TG TG rs145425897;rs71922128 by1000genomes 2011-2275:2012-365-T g.chr2:178214406_178214407insTG uc002uli.3 - LOC100130691_uc002ulk.1_Intron NM_001145412 NP_001138884 RIN2 54453 broad.mit.edu 37 20 19904987 19904988 + Intron INS - C C 2011-2275:2012-365-T g.chr20:19904987_19904988insC uc002wro.1 + RIN2_uc010gcu.1_Intron NM_018993 NP_061866 RIN2 54453 broad.mit.edu 37 20 19904994 19904995 + Intron DEL CT - - 2011-2275:2012-365-T g.chr20:19904994_19904995delCT uc002wro.1 + RIN2_uc010gcu.1_Intron NM_018993 NP_061866 C20orf26 26074 broad.mit.edu 37 20 20336089 20336090 + Intron DEL TG - - 2011-2275:2012-365-T g.chr20:20336089_20336090delTG uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 BAGE2 85319 broad.mit.edu 37 21 11057305 11057306 + Intron INS - G G rs150202290 2011-2275:2012-365-T g.chr21:11057305_11057306insG uc002yit.1 - NM_182482 NP_872288 CECR5 27440 broad.mit.edu 37 22 17628332 17628333 + Intron INS - TCGA TCGA rs71933919 2011-2275:2012-365-T g.chr22:17628332_17628333insTCGA uc002zmf.2 - CECR5_uc002zme.2_Intron|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Intron NM_033070 NP_149061 CADM2 253559 broad.mit.edu 37 3 85536790 85536792 + Intron DEL GAG - - rs112613086 2011-2275:2012-365-T g.chr3:85536790_85536792delGAG uc003dqj.2 + CADM2_uc003dqk.2_Intron NM_153184 NP_694854 CHCHD6 84303 broad.mit.edu 37 3 126581087 126581089 + Intron DEL CCT - - 2011-2275:2012-365-T g.chr3:126581087_126581089delCCT uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 CYP4V2 285440 broad.mit.edu 37 4 187125583 187125584 + Intron DEL AG - - rs5864976;rs70964923 2011-2275:2012-365-T g.chr4:187125583_187125584delAG uc003iyw.3 + CYP4V2_uc010ism.2_RNA NM_207352 NP_997235 TERT 7015 broad.mit.edu 37 5 1273269 1273270 + Intron INS - CA CA rs34084612 2011-2275:2012-365-T g.chr5:1273269_1273270insCA uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 PDZD2 23037 broad.mit.edu 37 5 32002889 32002889 + Intron DEL A - - 2011-2275:2012-365-T g.chr5:32002889delA uc003jhl.2 + PDZD2_uc003jhm.2_Intron|PDZD2_uc011cnx.1_Intron NM_178140 NP_835260 ECSCR 641700 broad.mit.edu 37 5 138786906 138786907 + Intron DEL GT - - 2011-2275:2012-365-T g.chr5:138786906_138786907delGT uc011cze.1 - ECSCR_uc011czd.1_5'Flank NM_001077693 NP_001071161 ADAP1 11033 broad.mit.edu 37 7 945227 945227 + Intron DEL A - - 2011-2275:2012-365-T g.chr7:945227delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 982936 982938 + Intron DEL GAC - - rs139903029 by1000genomes 2011-2275:2012-365-T g.chr7:982936_982938delGAC uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 COL5A1 1289 broad.mit.edu 37 9 137576972 137576973 + Intron INS - CATT CATT rs141729483 2011-2275:2012-365-T g.chr9:137576972_137576973insCATT uc004cfe.2 + NM_000093 NP_000084 SHOX 6473 broad.mit.edu 37 X 583506 583507 + 5'Flank DEL AG - - 2011-2275:2012-365-T g.chrX:583506_583507delAG uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 CNST 163882 broad.mit.edu 37 1 246783205 246783206 + Intron INS - TC TC 2011-2276:2012-364-T g.chr1:246783205_246783206insTC uc001ibp.2 + CNST_uc001ibo.3_Intron NM_152609 NP_689822 PTEN 5728 broad.mit.edu 37 10 89717695 89717696 + Frame_Shift_Ins INS - T T 2011-2276:2012-364-T g.chr10:89717695_89717696insT uc001kfb.2 + 8 1751_1752 c.720_721insT c.(718-723)TACTTTfs p.Y240fs NM_000314 NP_000305 GRK5 2869 broad.mit.edu 37 10 121051454 121051456 + Intron DEL TTT - - 2011-2276:2012-364-T g.chr10:121051454_121051456delTTT uc001led.2 + GRK5_uc009xzh.2_Intron|GRK5_uc010qta.1_Intron NM_005308 NP_005299 CALY 50632 broad.mit.edu 37 10 135147763 135147763 + Intron DEL G - - 2011-2276:2012-364-T g.chr10:135147763delG uc001lmo.2 - NM_015722 NP_056537 ELP4 26610 broad.mit.edu 37 11 31648802 31648802 + Intron DEL G - - 2011-2276:2012-364-T g.chr11:31648802delG uc001mtb.2 + ELP4_uc001mta.1_Intron|ELP4_uc001mtc.2_Intron|ELP4_uc010rdz.1_Intron NM_019040 NP_061913 TPCN2 219931 broad.mit.edu 37 11 68832402 68832403 + Intron INS - GC GC 2011-2276:2012-364-T g.chr11:68832402_68832403insGC uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron NM_139075 NP_620714 TPCN2 219931 broad.mit.edu 37 11 68832408 68832409 + Intron INS - G G rs111361884 2011-2276:2012-364-T g.chr11:68832408_68832409insG uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron NM_139075 NP_620714 RILPL1 353116 broad.mit.edu 37 12 123996233 123996234 + Intron DEL GT - - 2011-2276:2012-364-T g.chr12:123996233_123996234delGT uc001ufe.2 - RILPL1_uc001ufd.2_Intron|RILPL1_uc010tas.1_Intron NM_178314 NP_847884 SBNO2 22904 broad.mit.edu 37 19 1164434 1164435 + Intron INS - AAC AAC 2011-2276:2012-364-T g.chr19:1164434_1164435insAAC uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 SBNO2 22904 broad.mit.edu 37 19 1164603 1164605 + Intron DEL AGG - - 2011-2276:2012-364-T g.chr19:1164603_1164605delAGG uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 HDGFRP2 84717 broad.mit.edu 37 19 4493027 4493031 + Intron DEL GTGTG - - 2011-2276:2012-364-T g.chr19:4493027_4493031delGTGTG uc002mao.2 + HDGFRP2_uc002map.2_Intron|HDGFRP2_uc010dtz.1_Intron NM_001001520 NP_001001520 HDGFRP2 84717 broad.mit.edu 37 19 4493040 4493043 + Intron DEL TATC - - 2011-2276:2012-364-T g.chr19:4493040_4493043delTATC uc002mao.2 + HDGFRP2_uc002map.2_Intron|HDGFRP2_uc010dtz.1_Intron NM_001001520 NP_001001520 HDGFRP2 84717 broad.mit.edu 37 19 4493101 4493102 + Intron DEL GT - - 2011-2276:2012-364-T g.chr19:4493101_4493102delGT uc002mao.2 + HDGFRP2_uc002map.2_Intron|HDGFRP2_uc010dtz.1_Intron NM_001001520 NP_001001520 PXDN 7837 broad.mit.edu 37 2 1724171 1724176 + Intron DEL ATGCAC - - 2011-2276:2012-364-T g.chr2:1724171_1724176delATGCAC uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 MYT1L 23040 broad.mit.edu 37 2 2007939 2007939 + Intron DEL T - - 2011-2276:2012-364-T g.chr2:2007939delT uc002qxe.2 - MYT1L_uc002qxd.2_Intron|MYT1L_uc002qxf.1_Intron NM_015025 NP_055840 TSSC1 7260 broad.mit.edu 37 2 3273374 3273380 + Intron DEL GCACTCA - - rs111599799;rs72187954 2011-2276:2012-364-T g.chr2:3273374_3273380delGCACTCA uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 BCL11A 53335 broad.mit.edu 37 2 60694730 60694732 + Intron DEL TGG - - 2011-2276:2012-364-T g.chr2:60694730_60694732delTGG uc002sae.1 - BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Intron|BCL11A_uc002sad.1_Intron|BCL11A_uc002saf.1_Intron NM_022893 NP_075044 TNS1 7145 broad.mit.edu 37 2 218670247 218670248 + Intron INS - T T rs139137422 2011-2276:2012-364-T g.chr2:218670247_218670248insT uc002vgt.2 - TNS1_uc002vgr.2_Intron|TNS1_uc002vgs.2_Intron|TNS1_uc002vgq.2_Intron NM_022648 NP_072174 TNS1 7145 broad.mit.edu 37 2 218670254 218670254 + Intron DEL A - - 2011-2276:2012-364-T g.chr2:218670254delA uc002vgt.2 - TNS1_uc002vgr.2_Intron|TNS1_uc002vgs.2_Intron|TNS1_uc002vgq.2_Intron NM_022648 NP_072174 LAMA5 3911 broad.mit.edu 37 20 60889091 60889092 + Intron DEL GA - - rs113639499 2011-2276:2012-364-T g.chr20:60889091_60889092delGA uc002ycq.2 - NM_005560 NP_005551 PCBP3 54039 broad.mit.edu 37 21 47235666 47235667 + Intron INS - GTGGTGAGTG GTGGTGAGTG 2011-2276:2012-364-T g.chr21:47235666_47235667insGTGGTGAGTG uc010gqb.2 + NM_020528 NP_065389 C21orf56 84221 broad.mit.edu 37 21 47590159 47590160 + Intron INS - T T rs67258753 2011-2276:2012-364-T g.chr21:47590159_47590160insT uc011afu.1 - C21orf56_uc002zii.2_Intron NM_001142854 NP_001136326 KREMEN1 83999 broad.mit.edu 37 22 29516097 29516098 + Intron INS - AC AC rs56775329 2011-2276:2012-364-T g.chr22:29516097_29516098insAC uc011akm.1 + KREMEN1_uc003ael.2_Intron|KREMEN1_uc011akn.1_Intron NM_032045 NP_114434 MPPED1 758 broad.mit.edu 37 22 43828618 43828621 + Intron DEL AGAG - - 2011-2276:2012-364-T g.chr22:43828618_43828621delAGAG uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 CELSR1 9620 broad.mit.edu 37 22 46845340 46845340 + Intron DEL C - - 2011-2276:2012-364-T g.chr22:46845340delC uc003bhw.1 - NM_014246 NP_055061 FAM19A5 25817 broad.mit.edu 37 22 49069868 49069869 + Intron INS - TT TT rs140358066;rs71924051 by1000genomes 2011-2276:2012-364-T g.chr22:49069868_49069869insTT uc003bim.3 + FAM19A5_uc003bio.3_Intron NM_001082967 NP_001076436 CACNA1D 776 broad.mit.edu 37 3 53840015 53840018 + Intron DEL CGTT - - 2011-2276:2012-364-T g.chr3:53840015_53840018delCGTT uc003dgv.3 + CACNA1D_uc003dgu.3_Intron|CACNA1D_uc003dgy.3_Intron|CACNA1D_uc003dgw.3_Intron|CACNA1D_uc011bes.1_Intron NM_001128840 NP_001122312 CADM2 253559 broad.mit.edu 37 3 85536790 85536792 + Intron DEL GAG - - rs112613086 2011-2276:2012-364-T g.chr3:85536790_85536792delGAG uc003dqj.2 + CADM2_uc003dqk.2_Intron NM_153184 NP_694854 IGF2BP2 10644 broad.mit.edu 37 3 185383244 185383246 + Intron DEL AGA - - 2011-2276:2012-364-T g.chr3:185383244_185383246delAGA uc003fpo.2 - IGF2BP2_uc010hyi.2_Intron|IGF2BP2_uc010hyj.2_Intron|IGF2BP2_uc010hyk.2_Intron|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Intron NM_006548 NP_006539 ADAP1 11033 broad.mit.edu 37 7 946211 946212 + Intron INS - A A 2011-2276:2012-364-T g.chr7:946211_946212insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 MAD1L1 8379 broad.mit.edu 37 7 1980649 1980650 + Intron INS - T T rs143896454 by1000genomes 2011-2276:2012-364-T g.chr7:1980649_1980650insT uc003slh.1 - MAD1L1_uc003sle.1_Intron|MAD1L1_uc003slf.1_Intron|MAD1L1_uc003slg.1_Intron|MAD1L1_uc010ksh.1_Intron|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Intron|MAD1L1_uc010ksj.2_Intron|MAD1L1_uc003sld.1_5'Flank NM_001013836 NP_001013858 PPP1R9A 55607 broad.mit.edu 37 7 94833920 94833921 + Intron DEL CA - - 2011-2276:2012-364-T g.chr7:94833920_94833921delCA uc003unp.2 + PPP1R9A_uc010lfj.2_Intron|PPP1R9A_uc011kif.1_Intron|PPP1R9A_uc003unq.2_Intron|PPP1R9A_uc011kig.1_Intron NM_017650 NP_060120 COL5A1 1289 broad.mit.edu 37 9 137577431 137577432 + Intron INS - A A rs139419653 2011-2276:2012-364-T g.chr9:137577431_137577432insA uc004cfe.2 + NM_000093 NP_000084 SEC16A 9919 broad.mit.edu 37 9 139342874 139342875 + Intron INS - A A 2011-2276:2012-364-T g.chr9:139342874_139342875insA uc004chx.2 - SEC16A_uc004chp.2_5'Flank|SEC16A_uc004chq.2_5'Flank|SEC16A_uc011mea.1_5'Flank|SEC16A_uc004chr.2_Frame_Shift_Ins_p.R53fs|SEC16A_uc004chs.2_Intron|SEC16A_uc004cht.2_Intron|SEC16A_uc004chu.2_Intron|SEC16A_uc004chv.3_Intron|SEC16A_uc004chw.2_Intron|SEC16A_uc010nbn.2_Intron NM_014866 NP_055681 MARK2 2011 broad.mit.edu 37 11 63639012 63639013 + Intron INS - G G 2011-2277:2012-372-T g.chr11:63639012_63639013insG uc001nxw.2 + MARK2_uc001nxx.2_Intron|MARK2_uc001nxy.2_Intron|MARK2_uc001nxv.3_Intron NM_001039469 NP_001034558 FAT3 120114 broad.mit.edu 37 11 92438806 92438810 + Intron DEL GTGGT - - rs145584143 by1000genomes 2011-2277:2012-372-T g.chr11:92438806_92438810delGTGGT uc001pdj.3 + NM_001008781 NP_001008781 PCCA 5095 broad.mit.edu 37 13 101104235 101104236 + Intron INS - C C 2011-2277:2012-372-T g.chr13:101104235_101104236insC uc001voo.2 + PCCA_uc010aga.2_Intron|PCCA_uc010tiz.1_Intron|PCCA_uc001vop.2_Intron NM_000282 NP_000273 PCCA 5095 broad.mit.edu 37 13 101104248 101104250 + Intron DEL CCT - - 2011-2277:2012-372-T g.chr13:101104248_101104250delCCT uc001voo.2 + PCCA_uc010aga.2_Intron|PCCA_uc010tiz.1_Intron|PCCA_uc001vop.2_Intron NM_000282 NP_000273 ATP11A 23250 broad.mit.edu 37 13 113369653 113369653 + Intron DEL G - - 2011-2277:2012-372-T g.chr13:113369653delG uc001vsi.3 + ATP11A_uc001vsj.3_Intron NM_015205 NP_056020 ANKRD11 29123 broad.mit.edu 37 16 89356636 89356637 + Intron INS - T T 2011-2277:2012-372-T g.chr16:89356636_89356637insT uc002fmx.1 - ANKRD11_uc002fmy.1_Intron|ANKRD11_uc002fnc.1_Intron|ANKRD11_uc002fnd.2_Intron|ANKRD11_uc002fne.2_Intron|ANKRD11_uc002fnb.1_Intron NM_013275 NP_037407 DPEP1 1800 broad.mit.edu 37 16 89701082 89701082 + Intron DEL C - - rs112541518 2011-2277:2012-372-T g.chr16:89701082delC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 SLC38A10 124565 broad.mit.edu 37 17 79223268 79223273 + Intron DEL GGGAAG - - 2011-2277:2012-372-T g.chr17:79223268_79223273delGGGAAG uc002jzz.1 - SLC38A10_uc002jzy.1_Intron NM_001037984 NP_001033073 SBNO2 22904 broad.mit.edu 37 19 1164434 1164435 + Intron INS - AAC AAC 2011-2277:2012-372-T g.chr19:1164434_1164435insAAC uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 CACNG7 59284 broad.mit.edu 37 19 54428525 54428525 + Intron DEL T - - 2011-2277:2012-372-T g.chr19:54428525delT uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 MYT1L 23040 broad.mit.edu 37 2 2299458 2299459 + Intron DEL AG - - 2011-2277:2012-372-T g.chr2:2299458_2299459delAG uc002qxe.2 - MYT1L_uc002qxd.2_Intron NM_015025 NP_055840 SLC4A5 57835 broad.mit.edu 37 2 74557753 74557754 + Intron INS - T T rs139880064 2011-2277:2012-372-T g.chr2:74557753_74557754insT uc002skn.2 - SLC4A5_uc002skl.2_Intron|SLC4A5_uc002skp.1_5'Flank|SLC4A5_uc002sks.1_Intron NM_133478 NP_597812 RMND5A 64795 broad.mit.edu 37 2 87643656 87643659 + Intron DEL CAGT - - 2011-2277:2012-372-T g.chr2:87643656_87643659delCAGT uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87643658 87643660 + Intron DEL GTC - - 2011-2277:2012-372-T g.chr2:87643658_87643660delGTC uc002srs.3 + CLASP1 23332 broad.mit.edu 37 2 122369378 122369378 + Intron DEL T - - 2011-2277:2012-372-T g.chr2:122369378delT uc002tnc.2 - CLASP1_uc010yyz.1_Intron|CLASP1_uc010yza.1_Intron|CLASP1_uc010yzb.1_Intron|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tng.1_Intron NM_015282 NP_056097 CLASP1 23332 broad.mit.edu 37 2 122369380 122369381 + Intron DEL AT - - 2011-2277:2012-372-T g.chr2:122369380_122369381delAT uc002tnc.2 - CLASP1_uc010yyz.1_Intron|CLASP1_uc010yza.1_Intron|CLASP1_uc010yzb.1_Intron|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tng.1_Intron NM_015282 NP_056097 TNS1 7145 broad.mit.edu 37 2 218670336 218670337 + Intron INS - C C 2011-2277:2012-372-T g.chr2:218670336_218670337insC uc002vgt.2 - TNS1_uc002vgr.2_Intron|TNS1_uc002vgs.2_Intron|TNS1_uc002vgq.2_Intron NM_022648 NP_072174 HNF4A 3172 broad.mit.edu 37 20 43033747 43033748 + Intron INS - A A 2011-2277:2012-372-T g.chr20:43033747_43033748insA uc002xma.2 + HNF4A_uc010zwo.1_Intron|HNF4A_uc002xlt.2_Intron|HNF4A_uc002xlu.2_Intron|HNF4A_uc002xlv.2_Intron|uc002xlw.1_5'Flank|HNF4A_uc002xly.2_Intron|HNF4A_uc002xlz.2_Intron|HNF4A_uc010ggq.2_Intron NM_000457 NP_000448 HNF4A 3172 broad.mit.edu 37 20 43033748 43033749 + Intron INS - T T 2011-2277:2012-372-T g.chr20:43033748_43033749insT uc002xma.2 + HNF4A_uc010zwo.1_Intron|HNF4A_uc002xlt.2_Intron|HNF4A_uc002xlu.2_Intron|HNF4A_uc002xlv.2_Intron|uc002xlw.1_5'Flank|HNF4A_uc002xly.2_Intron|HNF4A_uc002xlz.2_Intron|HNF4A_uc010ggq.2_Intron NM_000457 NP_000448 ABCG1 9619 broad.mit.edu 37 21 43712816 43712817 + Intron INS - ACCA ACCA 2011-2277:2012-372-T g.chr21:43712816_43712817insACCA uc002zaq.2 + ABCG1_uc002zan.2_Intron|ABCG1_uc002zam.2_Intron|ABCG1_uc002zao.2_Intron|ABCG1_uc002zap.2_Intron|ABCG1_uc002zar.2_Intron|ABCG1_uc011aev.1_Intron|ABCG1_uc010gpb.1_Intron NM_004915 NP_004906 COL18A1 80781 broad.mit.edu 37 21 46920530 46920531 + Intron DEL GT - - 2011-2277:2012-372-T g.chr21:46920530_46920531delGT uc011afs.1 + COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Intron|SLC19A1_uc010gpy.1_Intron NM_130444 NP_569711 MKL1 57591 broad.mit.edu 37 22 40816933 40816933 + Frame_Shift_Del DEL G - - 2011-2277:2012-372-T g.chr22:40816933delG uc003ayv.1 - 7 1006 c.799delC c.(799-801)CAGfs p.Q267fs MKL1_uc003ayw.1_Frame_Shift_Del_p.Q267fs|MKL1_uc010gye.1_Frame_Shift_Del_p.Q267fs|MKL1_uc010gyf.1_Frame_Shift_Del_p.Q217fs NM_020831 NP_065882 FAM19A5 25817 broad.mit.edu 37 22 48938215 48938218 + Intron DEL GTGT - - 2011-2277:2012-372-T g.chr22:48938215_48938218delGTGT uc003bim.3 + NM_001082967 NP_001076436 FAM19A5 25817 broad.mit.edu 37 22 49074857 49074857 + Intron DEL A - - 2011-2277:2012-372-T g.chr22:49074857delA uc003bim.3 + FAM19A5_uc003bio.3_Intron NM_001082967 NP_001076436 FOXP1 27086 broad.mit.edu 37 3 71633324 71633324 + 5'Flank DEL T - - 2011-2277:2012-372-T g.chr3:71633324delT uc003dop.2 - FOXP1_uc003doo.2_5'Flank|FOXP1_uc003dos.2_5'Flank NM_032682 NP_116071 CEP72 55722 broad.mit.edu 37 5 650204 650205 + Intron DEL TG - - 2011-2277:2012-372-T g.chr5:650204_650205delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650334 650335 + Intron DEL TG - - 2011-2277:2012-372-T g.chr5:650334_650335delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650518 650519 + Intron INS - G G 2011-2277:2012-372-T g.chr5:650518_650519insG uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1070705 1070705 + Intron DEL G - - 2011-2277:2012-372-T g.chr5:1070705delG uc003jbu.2 - NM_006598 NP_006589 TERT 7015 broad.mit.edu 37 5 1273269 1273270 + Intron INS - CA CA rs34084612 2011-2277:2012-372-T g.chr5:1273269_1273270insCA uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 ADAMTS16 170690 broad.mit.edu 37 5 5305262 5305262 + Intron DEL C - - 2011-2277:2012-372-T g.chr5:5305262delC uc003jdl.2 + NM_139056 NP_620687 PDZD2 23037 broad.mit.edu 37 5 32002687 32002687 + Intron DEL T - - 2011-2277:2012-372-T g.chr5:32002687delT uc003jhl.2 + PDZD2_uc003jhm.2_Intron|PDZD2_uc011cnx.1_Intron NM_178140 NP_835260 PDZD2 23037 broad.mit.edu 37 5 32002689 32002689 + Intron DEL A - - 2011-2277:2012-372-T g.chr5:32002689delA uc003jhl.2 + PDZD2_uc003jhm.2_Intron|PDZD2_uc011cnx.1_Intron NM_178140 NP_835260 PDZD2 23037 broad.mit.edu 37 5 32002697 32002698 + Intron DEL CA - - 2011-2277:2012-372-T g.chr5:32002697_32002698delCA uc003jhl.2 + PDZD2_uc003jhm.2_Intron|PDZD2_uc011cnx.1_Intron NM_178140 NP_835260 PDZD2 23037 broad.mit.edu 37 5 32002732 32002733 + Intron INS - C C 2011-2277:2012-372-T g.chr5:32002732_32002733insC uc003jhl.2 + PDZD2_uc003jhm.2_Intron|PDZD2_uc011cnx.1_Intron NM_178140 NP_835260 CAPN11 11131 broad.mit.edu 37 6 44149362 44149365 + Intron DEL ACAT - - rs113916985 2011-2277:2012-372-T g.chr6:44149362_44149365delACAT uc003owt.1 + CAPN11_uc011dvn.1_Intron NM_007058 NP_008989 TMEM181 57583 broad.mit.edu 37 6 159027214 159027215 + Intron DEL AG - - 2011-2277:2012-372-T g.chr6:159027214_159027215delAG uc003qrm.3 + TMEM181_uc010kjr.1_Intron NM_020823 NP_065874 ADAP1 11033 broad.mit.edu 37 7 945225 945225 + Intron DEL A - - 2011-2277:2012-372-T g.chr7:945225delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945930 945931 + Intron INS - A A 2011-2277:2012-372-T g.chr7:945930_945931insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 C7orf50 84310 broad.mit.edu 37 7 1040999 1041000 + Intron INS - A A 2011-2277:2012-372-T g.chr7:1040999_1041000insA uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 C7orf50 84310 broad.mit.edu 37 7 1041000 1041001 + Intron INS - T T 2011-2277:2012-372-T g.chr7:1041000_1041001insT uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 CYTH3 9265 broad.mit.edu 37 7 6219353 6219354 + Intron DEL CA - - rs144596575 by1000genomes 2011-2277:2012-372-T g.chr7:6219353_6219354delCA uc003spt.2 - NM_004227 NP_004218 TXNDC3 51314 broad.mit.edu 37 7 37886983 37886984 + 5'Flank INS - GAG GAG rs149290475 by1000genomes 2011-2277:2012-372-T g.chr7:37886983_37886984insGAG uc003tfn.2 + NM_016616 NP_057700 PLXNA4 91584 broad.mit.edu 37 7 132248694 132248696 + Intron DEL TCC - - 2011-2277:2012-372-T g.chr7:132248694_132248696delTCC uc003vra.3 - PLXNA4_uc003vrc.2_Intron|PLXNA4_uc003vrb.2_Intron NM_020911 NP_065962 ARHGEF10 9639 broad.mit.edu 37 8 1781196 1781197 + Intron DEL GC - - rs55882250 by1000genomes 2011-2277:2012-372-T g.chr8:1781196_1781197delGC uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 ARHGEF10 9639 broad.mit.edu 37 8 1781199 1781199 + Intron DEL G - - 2011-2277:2012-372-T g.chr8:1781199delG uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 ARHGEF10 9639 broad.mit.edu 37 8 1781201 1781202 + Intron INS - C C 2011-2277:2012-372-T g.chr8:1781201_1781202insC uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 FAM167A 83648 broad.mit.edu 37 8 11313762 11313763 + Intron INS - GA GA rs76867855;rs145125271 by1000genomes 2011-2277:2012-372-T g.chr8:11313762_11313763insGA uc003wtw.2 - NM_053279 NP_444509 FAM167A 83648 broad.mit.edu 37 8 11313764 11313765 + Intron INS - GTGA GTGA 2011-2277:2012-372-T g.chr8:11313764_11313765insGTGA uc003wtw.2 - NM_053279 NP_444509 HGSNAT 138050 broad.mit.edu 37 8 43050798 43050799 + Intron INS - AGA AGA rs144111342 by1000genomes 2011-2277:2012-372-T g.chr8:43050798_43050799insAGA uc003xpx.3 + NM_152419 NP_689632 NOTCH1 4851 broad.mit.edu 37 9 139403240 139403241 + Intron INS - G G rs149368682;rs68024424 by1000genomes 2011-2277:2012-372-T g.chr9:139403240_139403241insG uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 EHMT1 79813 broad.mit.edu 37 9 140615677 140615677 + Intron DEL C - - 2011-2277:2012-372-T g.chr9:140615677delC uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 CSF2RA 1438 broad.mit.edu 37 X 1399988 1399989 + Intron DEL CC - - 2011-2277:2012-372-T g.chrX:1399988_1399989delCC uc010nct.2 + CSF2RA_uc011mhb.1_Intron|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Intron|CSF2RA_uc004cpo.2_Intron|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Intron|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_5'Flank|CSF2RA_uc004cpr.2_5'Flank NM_001161529 NP_001155001 CSF2RA 1438 broad.mit.edu 37 X 1400006 1400008 + Intron DEL CTC - - 2011-2277:2012-372-T g.chrX:1400006_1400008delCTC uc010nct.2 + CSF2RA_uc011mhb.1_Intron|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Intron|CSF2RA_uc004cpo.2_Intron|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Intron|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_5'Flank|CSF2RA_uc004cpr.2_5'Flank NM_001161529 NP_001155001 MEGF6 1953 broad.mit.edu 37 1 3493517 3493518 + Intron INS - C C 2011-2278:2012-1320-T g.chr1:3493517_3493518insC uc001akl.2 - NM_001409 NP_001400 PIK3R3 8503 broad.mit.edu 37 1 46597496 46597497 + Intron INS - T T rs66776704 2011-2278:2012-1320-T g.chr1:46597496_46597497insT uc001cpb.3 - PIK3R3_uc009vyb.2_Intron|PIK3R3_uc009vyc.2_Intron|PIK3R3_uc001cpc.3_Intron|PIK3R3_uc010olw.1_Intron NM_003629 NP_003620 CCDC6 8030 broad.mit.edu 37 10 61642163 61642164 + Intron DEL AG - - 2011-2278:2012-1320-T g.chr10:61642163_61642164delAG uc001jks.3 - NM_005436 NP_005427 KNDC1 85442 broad.mit.edu 37 10 135022782 135022783 + Intron INS - GTGTG GTGTG rs142306215;rs71951226 by1000genomes 2011-2278:2012-1320-T g.chr10:135022782_135022783insGTGTG uc001llz.1 + NM_152643 NP_689856 CHID1 66005 broad.mit.edu 37 11 881475 881476 + Intron INS - ACC ACC rs148735253 2011-2278:2012-1320-T g.chr11:881475_881476insACC uc010qwu.1 - CHID1_uc001lsl.2_Intron|CHID1_uc010qwv.1_Intron|CHID1_uc001lsn.2_Intron|CHID1_uc001lsm.2_Intron|CHID1_uc001lso.2_Intron|CHID1_uc001lsp.2_Intron|CHID1_uc010qww.1_Intron|uc001lsq.1_5'UTR|uc001lsr.1_3'UTR NM_023947 NP_076436 MUC2 4583 broad.mit.edu 37 11 1085278 1085279 + Intron INS - CCTC CCTC rs71682626 2011-2278:2012-1320-T g.chr11:1085278_1085279insCCTC uc001lsx.1 + NM_002457 NP_002448 MYO7A 4647 broad.mit.edu 37 11 76904022 76904023 + Intron INS - TTGT TTGT rs71466398 2011-2278:2012-1320-T g.chr11:76904022_76904023insTTGT uc001oyb.2 + MYO7A_uc010rsm.1_Intron|MYO7A_uc001oyc.2_Intron|MYO7A_uc009yus.1_Intron|MYO7A_uc009yut.1_Intron NM_000260 NP_000251 FAM101A 144347 broad.mit.edu 37 12 124787398 124787399 + Intron INS - G G 2011-2278:2012-1320-T g.chr12:124787398_124787399insG uc001ugd.1 + FAM101A_uc001uge.1_Intron NM_181709 NP_859060 GPR133 283383 broad.mit.edu 37 12 131530850 131530850 + Intron DEL C - - 2011-2278:2012-1320-T g.chr12:131530850delC uc001uit.3 + GPR133_uc010tbm.1_Intron NM_198827 NP_942122 GPR133 283383 broad.mit.edu 37 12 131530937 131530937 + Intron DEL C - - 2011-2278:2012-1320-T g.chr12:131530937delC uc001uit.3 + GPR133_uc010tbm.1_Intron NM_198827 NP_942122 ATP11A 23250 broad.mit.edu 37 13 113433031 113433032 + Intron INS - GAG GAG rs10645187;rs67803605 2011-2278:2012-1320-T g.chr13:113433031_113433032insGAG uc001vsi.3 + ATP11A_uc001vsj.3_Intron NM_015205 NP_056020 ATP11A 23250 broad.mit.edu 37 13 113433293 113433295 + Intron DEL GAG - - 2011-2278:2012-1320-T g.chr13:113433293_113433295delGAG uc001vsi.3 + ATP11A_uc001vsj.3_Intron NM_015205 NP_056020 ATP11A 23250 broad.mit.edu 37 13 113433486 113433487 + Intron INS - G G 2011-2278:2012-1320-T g.chr13:113433486_113433487insG uc001vsi.3 + ATP11A_uc001vsj.3_Intron NM_015205 NP_056020 TPSD1 23430 broad.mit.edu 37 16 1305069 1305069 + 5'Flank DEL G - - 2011-2278:2012-1320-T g.chr16:1305069delG uc002clb.1 + TPSD1_uc010brm.1_5'Flank NM_012217 NP_036349 CDH1 999 broad.mit.edu 37 16 68770847 68770847 + 5'Flank DEL A - - rs5030625 byFrequency 2011-2278:2012-1320-T g.chr16:68770847delA uc002ewg.1 + CDH1_uc010vlj.1_5'Flank|CDH1_uc010cfg.1_5'Flank NM_004360 NP_004351 KLHDC4 54758 broad.mit.edu 37 16 87772264 87772265 + Intron INS - TC TC rs149209566;rs71392311 by1000genomes 2011-2278:2012-1320-T g.chr16:87772264_87772265insTC uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 KLHDC4 54758 broad.mit.edu 37 16 87772470 87772471 + Intron INS - CATC CATC rs71667828 2011-2278:2012-1320-T g.chr16:87772470_87772471insCATC uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 BRIP1 83990 broad.mit.edu 37 17 59857600 59857600 + Intron DEL A - - 2011-2278:2012-1320-T g.chr17:59857600delA uc002izk.1 - BRIP1_uc002izl.1_Intron NM_032043 NP_114432 ZNF236 7776 broad.mit.edu 37 18 74679353 74679353 + Intron DEL T - - 2011-2278:2012-1320-T g.chr18:74679353delT uc002lmi.2 + ZNF236_uc002lmj.2_Intron NM_007345 NP_031371 ZNF236 7776 broad.mit.edu 37 18 74679360 74679361 + Intron INS - GGT GGT 2011-2278:2012-1320-T g.chr18:74679360_74679361insGGT uc002lmi.2 + ZNF236_uc002lmj.2_Intron NM_007345 NP_031371 STK11 6794 broad.mit.edu 37 19 1206797 1206797 + 5'UTR DEL T - - 2011-2278:2012-1320-T g.chr19:1206797delT uc002lrl.1 + 1 NM_000455 NP_000446 GNG7 2788 broad.mit.edu 37 19 2575736 2575737 + Intron INS - AG AG 2011-2278:2012-1320-T g.chr19:2575736_2575737insAG uc002lwd.2 - NM_052847 NP_443079 HDGFRP2 84717 broad.mit.edu 37 19 4493132 4493133 + Intron DEL TT - - 2011-2278:2012-1320-T g.chr19:4493132_4493133delTT uc002mao.2 + HDGFRP2_uc002map.2_Intron|HDGFRP2_uc010dtz.1_Intron NM_001001520 NP_001001520 INSR 3643 broad.mit.edu 37 19 7198025 7198028 + Intron DEL GTGT - - 2011-2278:2012-1320-T g.chr19:7198025_7198028delGTGT uc002mgd.1 - INSR_uc002mge.1_Intron|INSR_uc002mgf.2_Intron NM_000208 NP_000199 FCER2 2208 broad.mit.edu 37 19 7753925 7753925 + 3'UTR DEL T - - 2011-2278:2012-1320-T g.chr19:7753925delT uc002mhn.2 - 11 FCER2_uc010xjs.1_3'UTR|FCER2_uc010xjt.1_3'UTR|FCER2_uc002mhm.2_3'UTR NM_002002 NP_001993 GP6 51206 broad.mit.edu 37 19 55544891 55544895 + Intron DEL TTGTG - - rs111445348 2011-2278:2012-1320-T g.chr19:55544891_55544895delTTGTG uc002qik.2 - GP6_uc002qil.2_Intron|GP6_uc010esq.2_Intron|RDH13_uc010esr.1_Intron NM_016363 NP_057447 U2AF2 11338 broad.mit.edu 37 19 56181864 56181865 + Intron INS - C C 2011-2278:2012-1320-T g.chr19:56181864_56181865insC uc002qlu.2 + U2AF2_uc002qlt.2_Intron NM_007279 NP_009210 PXDN 7837 broad.mit.edu 37 2 1715275 1715276 + Intron DEL CT - - 2011-2278:2012-1320-T g.chr2:1715275_1715276delCT uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 DNMT3A 1788 broad.mit.edu 37 2 25475639 25475639 + Intron DEL A - - 2011-2278:2012-1320-T g.chr2:25475639delA uc002rgc.2 - DNMT3A_uc002rgd.2_Intron|DNMT3A_uc010eyi.2_Intron|DNMT3A_uc002rgb.2_5'Flank NM_022552 NP_072046 DYSF 8291 broad.mit.edu 37 2 71845221 71845222 + Intron INS - GT GT rs141055082 by1000genomes 2011-2278:2012-1320-T g.chr2:71845221_71845222insGT uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 DYSF 8291 broad.mit.edu 37 2 71845457 71845458 + Intron DEL AT - - 2011-2278:2012-1320-T g.chr2:71845457_71845458delAT uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 DYSF 8291 broad.mit.edu 37 2 71845581 71845582 + Intron INS - G G rs150257500 2011-2278:2012-1320-T g.chr2:71845581_71845582insG uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 DYSF 8291 broad.mit.edu 37 2 71845644 71845645 + Intron DEL GT - - 2011-2278:2012-1320-T g.chr2:71845644_71845645delGT uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 RMND5A 64795 broad.mit.edu 37 2 87623776 87623776 + Intron DEL A - - 2011-2278:2012-1320-T g.chr2:87623776delA uc002srs.3 + HDAC4 9759 broad.mit.edu 37 2 240154447 240154448 + Intron INS - G G rs66503356 2011-2278:2012-1320-T g.chr2:240154447_240154448insG uc002vyk.3 - HDAC4_uc010fyz.1_Intron|HDAC4_uc010zoa.1_Intron|HDAC4_uc010fza.2_Intron|HDAC4_uc002vyl.1_Intron NM_006037 NP_006028 GMEB2 26205 broad.mit.edu 37 20 62233150 62233151 + Intron INS - T T 2011-2278:2012-1320-T g.chr20:62233150_62233151insT uc002yfp.1 - GMEB2_uc002yfo.1_Intron|GMEB2_uc002yfq.1_Intron NM_012384 NP_036516 RRP1 8568 broad.mit.edu 37 21 45207072 45207073 + 5'Flank DEL CA - - 2011-2278:2012-1320-T g.chr21:45207072_45207073delCA uc002zds.2 + RRP1_uc011aez.1_5'Flank|RRP1_uc010gpk.1_5'Flank NM_003683 NP_003674 IL17RA 23765 broad.mit.edu 37 22 17585123 17585124 + Intron DEL GT - - rs112246156 2011-2278:2012-1320-T g.chr22:17585123_17585124delGT uc002zly.2 + IL17RA_uc010gqt.2_Intron NM_014339 NP_055154 PIK3CA 5290 broad.mit.edu 37 3 178937631 178937631 + Intron DEL A - - 2011-2278:2012-1320-T g.chr3:178937631delA uc003fjk.2 + NM_006218 NP_006209 CEP72 55722 broad.mit.edu 37 5 650344 650344 + Intron DEL G - - 2011-2278:2012-1320-T g.chr5:650344delG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650362 650363 + Intron DEL TG - - 2011-2278:2012-1320-T g.chr5:650362_650363delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650398 650399 + Intron INS - G G 2011-2278:2012-1320-T g.chr5:650398_650399insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 651259 651260 + Intron INS - TG TG rs72148198 2011-2278:2012-1320-T g.chr5:651259_651260insTG uc003jbf.2 + NM_018140 NP_060610 ADAMTS16 170690 broad.mit.edu 37 5 5305498 5305499 + Intron INS - C C 2011-2278:2012-1320-T g.chr5:5305498_5305499insC uc003jdl.2 + NM_139056 NP_620687 PDZD2 23037 broad.mit.edu 37 5 32002842 32002843 + Intron INS - A A 2011-2278:2012-1320-T g.chr5:32002842_32002843insA uc003jhl.2 + PDZD2_uc003jhm.2_Intron|PDZD2_uc011cnx.1_Intron NM_178140 NP_835260 PIK3R1 5295 broad.mit.edu 37 5 67594399 67594400 + 3'UTR INS - A A rs36055833 2011-2278:2012-1320-T g.chr5:67594399_67594400insA uc003jva.2 + 16 PIK3R1_uc003jvb.2_3'UTR|PIK3R1_uc003jvc.2_3'UTR|PIK3R1_uc003jvd.2_3'UTR|PIK3R1_uc003jve.2_3'UTR NM_181523 NP_852664 HLA-F 3134 broad.mit.edu 37 6 29692430 29692441 + Intron DEL AATTTCTGAGGG - - rs1632952;rs72366349;rs41554217;rs41556013;rs41556914;rs41555914;rs41563314;rs41550116;rs41558818 2011-2278:2012-1320-T g.chr6:29692430_29692441delAATTTCTGAGGG uc010jrl.2 + HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Intron|HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron NM_018950 NP_061823 HLA-G 3135 broad.mit.edu 37 6 29895566 29895567 + Intron INS - G G rs140095367 by1000genomes 2011-2278:2012-1320-T g.chr6:29895566_29895567insG uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HCG4P6_uc003noh.1_5'Flank|uc003noi.2_RNA NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29909770 29909772 + Intron DEL AAC - - rs67139508;rs71999680 2011-2278:2012-1320-T g.chr6:29909770_29909772delAAC uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'Flank|HLA-A_uc003nok.2_5'Flank|HLA-A_uc003nol.2_5'Flank|HLA-A_uc003non.2_5'Flank|HLA-A_uc003noo.2_5'Flank|HLA-A_uc010jrr.2_5'Flank|HLA-A_uc003nom.2_5'Flank|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank NM_002127 NP_002118 STX7 8417 broad.mit.edu 37 6 132812104 132812105 + Intron INS - CAGCA CAGCA rs72265615 2011-2278:2012-1320-T g.chr6:132812104_132812105insCAGCA uc003qdg.2 - STX7_uc011ecg.1_Intron|STX7_uc011ech.1_Intron NM_003569 NP_003560 SYNE1 23345 broad.mit.edu 37 6 152639143 152639143 + Intron DEL T - - 2011-2278:2012-1320-T g.chr6:152639143delT uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kiz.2_Intron NM_182961 NP_892006 SMOC2 64094 broad.mit.edu 37 6 169015194 169015195 + Intron INS - GG GG rs72247468 2011-2278:2012-1320-T g.chr6:169015194_169015195insGG uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 HEATR2 54919 broad.mit.edu 37 7 782046 782047 + Intron INS - T T rs11411774;rs34977311 2011-2278:2012-1320-T g.chr7:782046_782047insT uc010krz.1 + HEATR2_uc003siz.2_Intron NM_017802 NP_060272 ETV1 2115 broad.mit.edu 37 7 14028861 14028861 + Intron DEL A - - rs11328804 2011-2278:2012-1320-T g.chr7:14028861delA uc011jxq.1 - ETV1_uc011jxn.1_5'Flank|ETV1_uc011jxo.1_5'Flank|ETV1_uc011jxp.1_5'Flank|ETV1_uc003ssw.3_Intron|ETV1_uc003ssx.2_Intron|ETV1_uc011jxr.1_Intron|ETV1_uc011jxs.1_Intron NM_004956 NP_004947 CNTNAP2 26047 broad.mit.edu 37 7 145813628 145813628 + 5'UTR DEL T - - 2011-2278:2012-1320-T g.chr7:145813628delT uc003weu.1 + 1 NM_014141 NP_054860 PTPRN2 5799 broad.mit.edu 37 7 157449993 157449996 + Intron DEL ACAC - - 2011-2278:2012-1320-T g.chr7:157449993_157449996delACAC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 TRAPPC9 83696 broad.mit.edu 37 8 141167288 141167288 + Intron DEL T - - 2011-2278:2012-1320-T g.chr8:141167288delT uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 POMT1 10585 broad.mit.edu 37 9 134391427 134391428 + Intron INS - TA TA rs74207135 2011-2278:2012-1320-T g.chr9:134391427_134391428insTA uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 CSF2RA 1438 broad.mit.edu 37 X 1386960 1386961 + 5'Flank DEL TG - - 2011-2278:2012-1320-T g.chrX:1386960_1386961delTG uc010nct.2 + CSF2RA_uc011mhb.1_5'Flank|CSF2RA_uc004cpq.2_5'Flank|CSF2RA_uc004cpn.2_5'Flank|CSF2RA_uc004cpo.2_5'Flank|CSF2RA_uc010ncu.2_5'Flank|CSF2RA_uc011mhc.1_5'Flank|CSF2RA_uc004cpp.2_5'Flank NM_001161529 NP_001155001 IL1RAPL2 26280 broad.mit.edu 37 X 104006560 104006562 + Intron DEL CTC - - 2011-2278:2012-1320-T g.chrX:104006560_104006562delCTC uc004elz.1 + NM_017416 NP_059112 SCNN1D 6339 broad.mit.edu 37 1 1224736 1224737 + Intron DEL CC - - 2011-2280:2012-366-T g.chr1:1224736_1224737delCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 CASZ1 54897 broad.mit.edu 37 1 10804785 10804788 + Intron DEL GGGC - - rs148489185 2011-2280:2012-366-T g.chr1:10804785_10804788delGGGC uc001aro.2 - CASZ1_uc001arp.1_Intron NM_001079843 NP_001073312 NOTCH2 4853 broad.mit.edu 37 1 120611467 120611467 + Intron DEL C - - rs113675536 2011-2280:2012-366-T g.chr1:120611467delC uc001eik.2 - NOTCH2_uc001eil.2_Intron|NOTCH2_uc001eim.3_Intron NM_024408 NP_077719 FAM5B 57795 broad.mit.edu 37 1 177242774 177242774 + Intron DEL A - - 2011-2280:2012-366-T g.chr1:177242774delA uc001glf.2 + FAM5B_uc010pna.1_Intron|FAM5B_uc001glg.2_Intron NM_021165 NP_066988 USH2A 7399 broad.mit.edu 37 1 215933255 215933255 + Intron DEL C - - 2011-2280:2012-366-T g.chr1:215933255delC uc001hku.1 - NM_206933 NP_996816 USH2A 7399 broad.mit.edu 37 1 216019046 216019046 + Intron DEL C - - 2011-2280:2012-366-T g.chr1:216019046delC uc001hku.1 - NM_206933 NP_996816 USH2A 7399 broad.mit.edu 37 1 216256672 216256672 + Intron DEL A - - 2011-2280:2012-366-T g.chr1:216256672delA uc001hku.1 - NM_206933 NP_996816 USH2A 7399 broad.mit.edu 37 1 216405236 216405236 + Intron DEL A - - 2011-2280:2012-366-T g.chr1:216405236delA uc001hku.1 - USH2A_uc001hkv.2_Intron NM_206933 NP_996816 DISC1 27185 broad.mit.edu 37 1 231868852 231868853 + Intron INS - A A 2011-2280:2012-366-T g.chr1:231868852_231868853insA uc001huz.2 + TSNAX-DISC1_uc010pwf.1_Intron|TSNAX-DISC1_uc010pwg.1_Intron|TSNAX-DISC1_uc010pwh.1_Intron|TSNAX-DISC1_uc010pwi.1_Intron|TSNAX-DISC1_uc010pwj.1_Intron|TSNAX-DISC1_uc010pwk.1_Intron|TSNAX-DISC1_uc010pwl.1_Intron|DISC1_uc010pwo.1_Intron|DISC1_uc010pwp.1_Intron|DISC1_uc010pwq.1_Intron|DISC1_uc010pwr.1_Intron|DISC1_uc010pws.1_Intron|DISC1_uc010pwt.1_Intron|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_Intron|DISC1_uc010pww.1_Intron|DISC1_uc010pwx.1_Intron|DISC1_uc010pwy.1_Intron|DISC1_uc010pwz.1_Intron|DISC1_uc010pxa.1_Intron|DISC1_uc001huy.2_Intron|DISC1_uc010pxb.1_Intron|DISC1_uc010pxc.1_Intron|DISC1_uc010pxd.1_Intron|DISC1_uc010pxe.1_Intron|DISC1_uc009xfr.2_Intron|DISC1_uc010pxf.1_Intron|DISC1_uc010pxg.1_Intron|DISC1_uc010pxh.1_Intron|DISC1_uc010pxi.1_Intron|DISC1_uc010pxj.1_Intron|DISC1_uc010pxk.1_Intron|DISC1_uc010pxl.1_Intron|DISC1_uc010pxm.1_Intron|DISC1_uc010pxn.1_Intron|DISC1_uc001hva.2_Intron NM_018662 NP_061132 DISC1 27185 broad.mit.edu 37 1 231868853 231868854 + Intron INS - GA GA 2011-2280:2012-366-T g.chr1:231868853_231868854insGA uc001huz.2 + TSNAX-DISC1_uc010pwf.1_Intron|TSNAX-DISC1_uc010pwg.1_Intron|TSNAX-DISC1_uc010pwh.1_Intron|TSNAX-DISC1_uc010pwi.1_Intron|TSNAX-DISC1_uc010pwj.1_Intron|TSNAX-DISC1_uc010pwk.1_Intron|TSNAX-DISC1_uc010pwl.1_Intron|DISC1_uc010pwo.1_Intron|DISC1_uc010pwp.1_Intron|DISC1_uc010pwq.1_Intron|DISC1_uc010pwr.1_Intron|DISC1_uc010pws.1_Intron|DISC1_uc010pwt.1_Intron|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_Intron|DISC1_uc010pww.1_Intron|DISC1_uc010pwx.1_Intron|DISC1_uc010pwy.1_Intron|DISC1_uc010pwz.1_Intron|DISC1_uc010pxa.1_Intron|DISC1_uc001huy.2_Intron|DISC1_uc010pxb.1_Intron|DISC1_uc010pxc.1_Intron|DISC1_uc010pxd.1_Intron|DISC1_uc010pxe.1_Intron|DISC1_uc009xfr.2_Intron|DISC1_uc010pxf.1_Intron|DISC1_uc010pxg.1_Intron|DISC1_uc010pxh.1_Intron|DISC1_uc010pxi.1_Intron|DISC1_uc010pxj.1_Intron|DISC1_uc010pxk.1_Intron|DISC1_uc010pxl.1_Intron|DISC1_uc010pxm.1_Intron|DISC1_uc010pxn.1_Intron|DISC1_uc001hva.2_Intron NM_018662 NP_061132 CNST 163882 broad.mit.edu 37 1 246783290 246783291 + Intron DEL CT - - 2011-2280:2012-366-T g.chr1:246783290_246783291delCT uc001ibp.2 + CNST_uc001ibo.3_Intron NM_152609 NP_689822 IDI1 3422 broad.mit.edu 37 10 1093539 1093540 + Intron INS - CCGT CCGT 2011-2280:2012-366-T g.chr10:1093539_1093540insCCGT uc001iga.2 - IDI1_uc001ifz.2_5'Flank|IDI1_uc001igb.2_Intron|IDI1_uc001igc.2_Intron|uc001igd.2_5'Flank NM_004508 NP_004499 PCDH15 65217 broad.mit.edu 37 10 55945034 55945034 + Intron DEL A - - 2011-2280:2012-366-T g.chr10:55945034delA uc001jju.1 - PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Intron|PCDH15_uc010qhw.1_Intron|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhy.1_Intron|PCDH15_uc010qhz.1_Intron|PCDH15_uc010qia.1_Intron|PCDH15_uc010qib.1_Intron|PCDH15_uc001jjw.2_Intron NM_033056 NP_149045 CCDC6 8030 broad.mit.edu 37 10 61641782 61641783 + Intron DEL CG - - rs71185290;rs28723397 2011-2280:2012-366-T g.chr10:61641782_61641783delCG uc001jks.3 - NM_005436 NP_005427 KIAA1274 27143 broad.mit.edu 37 10 72299898 72299899 + Intron DEL GT - - 2011-2280:2012-366-T g.chr10:72299898_72299899delGT uc001jrd.3 + KIAA1274_uc001jre.3_Intron NM_014431 NP_055246 ODF3 113746 broad.mit.edu 37 11 196470 196471 + 5'Flank INS - G G 2011-2280:2012-366-T g.chr11:196470_196471insG uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 ODF3 113746 broad.mit.edu 37 11 196482 196483 + 5'Flank INS - A A rs113228320 2011-2280:2012-366-T g.chr11:196482_196483insA uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 PLEKHA7 144100 broad.mit.edu 37 11 16803673 16803674 + Intron INS - AC AC 2011-2280:2012-366-T g.chr11:16803673_16803674insAC uc010rcu.1 - uc009ygt.2_5'Flank NM_175058 NP_778228 MRE11A 4361 broad.mit.edu 37 11 94209742 94209742 + Intron DEL T - - 2011-2280:2012-366-T g.chr11:94209742delT uc001peu.2 - MRE11A_uc001pev.2_Intron|MRE11A_uc009ywj.2_Intron NM_005591 NP_005582 CACNA2D4 93589 broad.mit.edu 37 12 1980269 1980271 + Intron DEL TGC - - 2011-2280:2012-366-T g.chr12:1980269_1980271delTGC uc001qjp.2 - CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron NM_172364 NP_758952 PIK3C2G 5288 broad.mit.edu 37 12 18801140 18801141 + 3'UTR INS - T T 2011-2280:2012-366-T g.chr12:18801140_18801141insT uc001rdt.2 + 32 PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_3'UTR|PIK3C2G_uc010sic.1_3'UTR NM_004570 NP_004561 LRRK2 120892 broad.mit.edu 37 12 40668637 40668637 + Intron DEL T - - 2011-2280:2012-366-T g.chr12:40668637delT uc001rmg.3 + LRRK2_uc001rmh.1_Intron NM_198578 NP_940980 MDM2 4193 broad.mit.edu 37 12 69229771 69229771 + Intron DEL T - - 2011-2280:2012-366-T g.chr12:69229771delT uc001sui.2 + MDM2_uc009zri.2_Intron|MDM2_uc009zqx.2_Intron|MDM2_uc009zqw.2_Intron|MDM2_uc001suk.2_Intron|MDM2_uc001sun.3_Intron|MDM2_uc009zqz.2_Intron|MDM2_uc009zra.2_Intron|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_Intron|MDM2_uc009zrc.2_Intron|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Intron|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Intron NM_002392 NP_002383 NAV3 89795 broad.mit.edu 37 12 78225000 78225001 + 5'Flank DEL AG - - 2011-2280:2012-366-T g.chr12:78225000_78225001delAG uc001syp.2 + NAV3_uc001syo.2_5'Flank NM_014903 NP_055718 SYT1 6857 broad.mit.edu 37 12 79701481 79701481 + Intron DEL G - - 2011-2280:2012-366-T g.chr12:79701481delG uc001sys.2 + SYT1_uc001syt.2_Intron|SYT1_uc001syu.2_Intron|SYT1_uc001syv.2_Intron NM_001135805 NP_001129277 PTPN11 5781 broad.mit.edu 37 12 112939864 112939864 + Intron DEL T - - 2011-2280:2012-366-T g.chr12:112939864delT uc001ttx.2 + NM_002834 NP_002825 PIWIL1 9271 broad.mit.edu 37 12 130837974 130837974 + Intron DEL T - - 2011-2280:2012-366-T g.chr12:130837974delT uc001uik.2 + PIWIL1_uc001uij.1_Intron NM_004764 NP_004755 FLT3 2322 broad.mit.edu 37 13 28589662 28589662 + Intron DEL C - - rs4497507 by1000genomes 2011-2280:2012-366-T g.chr13:28589662delC uc001urw.2 - FLT3_uc010aao.2_Intron|FLT3_uc010tdn.1_Intron NM_004119 NP_004110 FLT3 2322 broad.mit.edu 37 13 28636095 28636096 + Frame_Shift_Ins INS - T T 2011-2280:2012-366-T g.chr13:28636095_28636096insT uc001urw.2 - 3 358_359 c.276_277insA c.(274-279)CAAGTGfs p.Q92fs FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Frame_Shift_Ins_p.Q92fs NM_004119 NP_004110 MTUS2 23281 broad.mit.edu 37 13 30065974 30065975 + Intron DEL GT - - 2011-2280:2012-366-T g.chr13:30065974_30065975delGT uc001usl.3 + MTUS2_uc001usm.3_Intron|MTUS2_uc010aau.2_Intron NM_001033602 NP_001028774 CDADC1 81602 broad.mit.edu 37 13 49829945 49829945 + Intron DEL T - - 2011-2280:2012-366-T g.chr13:49829945delT uc001vcu.2 + CDADC1_uc001vcs.1_Intron|CDADC1_uc001vct.1_Intron|CDADC1_uc010tgk.1_Intron|CDADC1_uc001vcv.2_Intron NM_030911 NP_112173 MCF2L 23263 broad.mit.edu 37 13 113712515 113712515 + Intron DEL T - - 2011-2280:2012-366-T g.chr13:113712515delT uc001vsu.2 + MCF2L_uc001vsq.2_Intron|MCF2L_uc010tjr.1_Intron|MCF2L_uc001vsr.2_Intron|MCF2L_uc001vss.3_Intron|MCF2L_uc010tjs.1_Intron|MCF2L_uc001vst.1_Intron NM_001112732 NP_001106203 RASA3 22821 broad.mit.edu 37 13 114799044 114799045 + Intron INS - C C rs147187415 by1000genomes 2011-2280:2012-366-T g.chr13:114799044_114799045insC uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron|RASA3_uc010aha.1_Intron NM_007368 NP_031394 SYNE2 23224 broad.mit.edu 37 14 64450478 64450478 + Frame_Shift_Del DEL A - - 2011-2280:2012-366-T g.chr14:64450478delA uc001xgm.2 + 18 2255 c.2025delA c.(2023-2025)ATAfs p.I675fs SYNE2_uc001xgl.2_Frame_Shift_Del_p.I675fs NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64540965 64540966 + Intron DEL GA - - 2011-2280:2012-366-T g.chr14:64540965_64540966delGA uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_5'Flank|SYNE2_uc010apw.1_Intron|SYNE2_uc010apx.1_Intron NM_015180 NP_055995 GALNTL1 57452 broad.mit.edu 37 14 69806342 69806342 + Intron DEL C - - 2011-2280:2012-366-T g.chr14:69806342delC uc010aqu.1 + GALNTL1_uc001xla.1_Intron|GALNTL1_uc001xlb.1_Intron NM_020692 NP_065743 TRIP11 9321 broad.mit.edu 37 14 92442388 92442389 + Intron INS - T T 2011-2280:2012-366-T g.chr14:92442388_92442389insT uc001xzy.2 - TRIP11_uc010auf.1_Intron NM_004239 NP_004230 DICER1 23405 broad.mit.edu 37 14 95583088 95583088 + Intron DEL A - - 2011-2280:2012-366-T g.chr14:95583088delA uc001ydw.2 - DICER1_uc001ydv.2_Intron|DICER1_uc001ydx.2_Intron NM_030621 NP_085124 GABRB3 2562 broad.mit.edu 37 15 26812713 26812713 + Intron DEL A - - 2011-2280:2012-366-T g.chr15:26812713delA uc001zaz.2 - GABRB3_uc010uae.1_Intron|GABRB3_uc001zba.2_Intron|GABRB3_uc001zbb.2_Intron NM_000814 NP_000805 MGRN1 23295 broad.mit.edu 37 16 4728442 4728442 + Intron DEL A - - 2011-2280:2012-366-T g.chr16:4728442delA uc002cwz.2 + MGRN1_uc002cxa.2_Intron|MGRN1_uc010btx.2_Intron|MGRN1_uc010btw.2_Intron|MGRN1_uc002cxb.2_Intron|MGRN1_uc010uxo.1_Intron|MGRN1_uc010uxp.1_Intron|MGRN1_uc010uxq.1_Intron NM_001142290 NP_001135762 HYDIN 54768 broad.mit.edu 37 16 70884614 70884614 + Intron DEL A - - 2011-2280:2012-366-T g.chr16:70884614delA uc002ezr.2 - HYDIN_uc010cfy.2_Intron NM_032821 NP_116210 TP53 7157 broad.mit.edu 37 17 7573944 7573944 + Frame_Shift_Del DEL C - - 2011-2280:2012-366-T g.chr17:7573944delC uc002gim.2 - 10 1277 c.1083delG c.(1081-1083)GGGfs p.G361fs TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Del_p.G229fs|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Del_p.G361fs NM_001126112 NP_001119584 MYH8 4626 broad.mit.edu 37 17 10302060 10302061 + Intron INS - A A 2011-2280:2012-366-T g.chr17:10302060_10302061insA uc002gmm.2 - uc002gml.1_Intron NM_002472 NP_002463 NF1 4763 broad.mit.edu 37 17 29528326 29528326 + Intron DEL T - - 2011-2280:2012-366-T g.chr17:29528326delT uc002hgg.2 + NF1_uc002hge.1_Intron|NF1_uc002hgf.1_Intron|NF1_uc002hgh.2_Intron|NF1_uc010csn.1_Intron NM_001042492 NP_001035957 NF1 4763 broad.mit.edu 37 17 29533435 29533435 + Intron DEL T - - 2011-2280:2012-366-T g.chr17:29533435delT uc002hgg.2 + NF1_uc002hge.1_Intron|NF1_uc002hgf.1_Intron|NF1_uc002hgh.2_Intron|NF1_uc010csn.1_Intron NM_001042492 NP_001035957 STAT3 6774 broad.mit.edu 37 17 40468878 40468879 + Frame_Shift_Ins INS - G G 2011-2280:2012-366-T g.chr17:40468878_40468879insG uc002hzl.1 - 23 2425_2426 c.2185_2186insC c.(2185-2187)CGCfs p.R729fs STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Frame_Shift_Ins_p.R728fs|STAT3_uc010wgh.1_Frame_Shift_Ins_p.R631fs|STAT3_uc002hzn.1_Frame_Shift_Ins_p.R729fs|STAT3_uc010cyf.1_5'Flank NM_139276 NP_644805 PRKCA 5578 broad.mit.edu 37 17 64685086 64685088 + In_Frame_Del DEL AAG - - 2011-2280:2012-366-T g.chr17:64685086_64685088delAAG uc002jfp.1 + 8 883_885 c.839_841delAAG c.(838-843)CAAGAA>CAA p.E282del PRKCA_uc002jfo.1_In_Frame_Del_p.E153del NM_002737 NP_002728 EIF4A3 9775 broad.mit.edu 37 17 78109723 78109723 + Intron DEL A - - 2011-2280:2012-366-T g.chr17:78109723delA uc010wuc.1 - EIF4A3_uc002jxs.2_Intron NM_014740 NP_055555 PIK3C3 5289 broad.mit.edu 37 18 39567580 39567580 + Intron DEL A - - 2011-2280:2012-366-T g.chr18:39567580delA uc002lap.2 + PIK3C3_uc010xcl.1_Intron NM_002647 NP_002638 SETBP1 26040 broad.mit.edu 37 18 42260904 42260904 + 5'UTR DEL T - - rs77168280 2011-2280:2012-366-T g.chr18:42260904delT uc010dni.2 + 1 SETBP1_uc002lay.2_Intron NM_015559 NP_056374 SETBP1 26040 broad.mit.edu 37 18 42618442 42618442 + Intron DEL T - - 2011-2280:2012-366-T g.chr18:42618442delT uc010dni.2 + NM_015559 NP_056374 KIAA1468 57614 broad.mit.edu 37 18 59922625 59922625 + Intron DEL T - - 2011-2280:2012-366-T g.chr18:59922625delT uc002lil.2 + KIAA1468_uc002lik.1_Intron|KIAA1468_uc010xel.1_Intron|KIAA1468_uc002lim.2_Intron NM_020854 NP_065905 KIAA1468 57614 broad.mit.edu 37 18 59942776 59942776 + Intron DEL T - - 2011-2280:2012-366-T g.chr18:59942776delT uc002lil.2 + KIAA1468_uc002lik.1_Frame_Shift_Del_p.F1009fs|KIAA1468_uc010xel.1_Intron|KIAA1468_uc002lim.2_Intron NM_020854 NP_065905 SBNO2 22904 broad.mit.edu 37 19 1166230 1166231 + Intron INS - T T rs150401110;rs66492416 2011-2280:2012-366-T g.chr19:1166230_1166231insT uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 ZNF554 115196 broad.mit.edu 37 19 2818547 2818548 + 5'Flank INS - C C 2011-2280:2012-366-T g.chr19:2818547_2818548insC uc002lwm.2 + ZNF554_uc002lwl.2_5'Flank NM_001102651 NP_001096121 NLRP12 91662 broad.mit.edu 37 19 54297233 54297233 + 3'UTR DEL G - - 2011-2280:2012-366-T g.chr19:54297233delG uc002qch.3 - 10 NLRP12_uc010eqw.2_3'UTR|NLRP12_uc002qci.3_3'UTR|NLRP12_uc002qcj.3_3'UTR|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_3'UTR NM_144687 NP_653288 LILRA3 11026 broad.mit.edu 37 19 54804856 54804857 + 5'Flank DEL CT - - rs111829347 2011-2280:2012-366-T g.chr19:54804856_54804857delCT uc002qfd.2 - LILRA6_uc002qew.1_5'Flank|LILRA3_uc010erk.2_5'Flank NM_006865 NP_006856 LILRB1 10859 broad.mit.edu 37 19 55141671 55141672 + Intron INS - C C rs113678228 2011-2280:2012-366-T g.chr19:55141671_55141672insC uc002qgj.2 + LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_5'Flank|LILRB1_uc002qgk.2_5'Flank|LILRB1_uc002qgm.2_5'Flank|LILRB1_uc010erq.2_5'Flank|LILRB1_uc010err.2_5'Flank NM_006669 NP_006660 SNTG2 54221 broad.mit.edu 37 2 1285182 1285183 + Intron DEL TG - - 2011-2280:2012-366-T g.chr2:1285182_1285183delTG uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 TSSC1 7260 broad.mit.edu 37 2 3299877 3299878 + Intron DEL AC - - 2011-2280:2012-366-T g.chr2:3299877_3299878delAC uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 WDR35 57539 broad.mit.edu 37 2 20185258 20185258 + Intron DEL A - - 2011-2280:2012-366-T g.chr2:20185258delA uc002rdi.2 - WDR35_uc002rdj.2_Intron|WDR35_uc010ext.2_Intron NM_001006657 NP_001006658 FANCL 55120 broad.mit.edu 37 2 58392827 58392827 + Intron DEL A - - 2011-2280:2012-366-T g.chr2:58392827delA uc002rzw.3 - FANCL_uc002rzx.3_Intron|FANCL_uc010fce.2_Intron|FANCL_uc010fcf.1_Intron NM_018062 NP_060532 CTNNA2 1496 broad.mit.edu 37 2 80531575 80531575 + Intron DEL A - - 2011-2280:2012-366-T g.chr2:80531575delA uc010ysh.1 + CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_5'Flank|LRRTM1_uc002sok.1_5'Flank NM_004389 NP_004380 IL1R2 7850 broad.mit.edu 37 2 102608535 102608536 + Intron DEL GA - - 2011-2280:2012-366-T g.chr2:102608535_102608536delGA uc002tbm.2 + NM_004633 NP_004624 LRP1B 53353 broad.mit.edu 37 2 141359250 141359251 + Intron INS - A A 2011-2280:2012-366-T g.chr2:141359250_141359251insA uc002tvj.1 - NM_018557 NP_061027 STAT1 6772 broad.mit.edu 37 2 191854429 191854429 + Intron DEL A - - 2011-2280:2012-366-T g.chr2:191854429delA uc002usj.2 - STAT1_uc010fse.1_Intron|STAT1_uc002usk.2_Intron|STAT1_uc002usl.2_Intron|STAT1_uc010fsf.1_Intron NM_007315 NP_009330 CASP8 841 broad.mit.edu 37 2 202149799 202149799 + Frame_Shift_Del DEL T - - 2011-2280:2012-366-T g.chr2:202149799delT uc002uxr.1 + 9 1272 c.1063delT c.(1063-1065)TTTfs p.F355fs CASP8_uc002uxp.1_Frame_Shift_Del_p.F372fs|CASP8_uc002uxq.1_Frame_Shift_Del_p.F340fs|CASP8_uc002uxt.1_Frame_Shift_Del_p.F414fs|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Frame_Shift_Del_p.F340fs|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Frame_Shift_Del_p.F271fs NM_033355 NP_203519 MAP2 4133 broad.mit.edu 37 2 210288885 210288885 + 5'UTR DEL C - - rs113563544 2011-2280:2012-366-T g.chr2:210288885delC uc002vdc.1 + 1 MAP2_uc002vdd.1_5'UTR NM_002374 NP_002365 MAP2 4133 broad.mit.edu 37 2 210444613 210444613 + Intron DEL T - - 2011-2280:2012-366-T g.chr2:210444613delT uc002vde.1 + MAP2_uc002vdc.1_Intron|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron NM_002374 NP_002365 MAP2 4133 broad.mit.edu 37 2 210575228 210575228 + Intron DEL T - - 2011-2280:2012-366-T g.chr2:210575228delT uc002vde.1 + MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Intron NM_002374 NP_002365 ABCA12 26154 broad.mit.edu 37 2 215835140 215835140 + Intron DEL A - - 2011-2280:2012-366-T g.chr2:215835140delA uc002vew.2 - ABCA12_uc002vev.2_Intron|ABCA12_uc010zjn.1_Intron NM_173076 NP_775099 ABCA12 26154 broad.mit.edu 37 2 215847133 215847133 + Intron DEL T - - 2011-2280:2012-366-T g.chr2:215847133delT uc002vew.2 - ABCA12_uc002vev.2_Intron|ABCA12_uc010zjn.1_Intron NM_173076 NP_775099 SLC4A3 6508 broad.mit.edu 37 2 220501689 220501689 + Intron DEL G - - 2011-2280:2012-366-T g.chr2:220501689delG uc002vmp.3 + SLC4A3_uc002vmo.3_Intron|SLC4A3_uc010fwm.2_Intron|SLC4A3_uc010fwn.1_Intron NM_005070 NP_005061 RAMP1 10267 broad.mit.edu 37 2 238819397 238819408 + Intron DEL AGTCACACACAC - - 2011-2280:2012-366-T g.chr2:238819397_238819408delAGTCACACACAC uc002vxj.2 + NM_005855 NP_005846 THAP4 51078 broad.mit.edu 37 2 242559426 242559427 + Intron INS - TC TC 2011-2280:2012-366-T g.chr2:242559426_242559427insTC uc002wbt.2 - THAP4_uc002wbs.2_5'Flank NM_015963 NP_057047 ADAMTS5 11096 broad.mit.edu 37 21 28338958 28338965 + 5'UTR DEL GGGGGGGA - - rs11427798;rs71314106 2011-2280:2012-366-T g.chr21:28338958_28338965delGGGGGGGA uc002ymg.2 - 1 NM_007038 NP_008969 DSCAM 1826 broad.mit.edu 37 21 41427669 41427670 + Frame_Shift_Del DEL TC - - 2011-2280:2012-366-T g.chr21:41427669_41427670delTC uc002yyq.1 - 29 5469_5470 c.5017_5018delGA c.(5017-5019)GACfs p.D1673fs DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 ELFN2 114794 broad.mit.edu 37 22 37769104 37769104 + 3'UTR DEL G - - 2011-2280:2012-366-T g.chr22:37769104delG uc003asq.3 - 3 NM_052906 NP_443138 EP300 2033 broad.mit.edu 37 22 41487972 41487972 + 5'Flank DEL C - - 2011-2280:2012-366-T g.chr22:41487972delC uc003azl.3 + MIR1281_hsa-mir-1281|MI0006428_5'Flank NM_001429 NP_001420 TBC1D22A 25771 broad.mit.edu 37 22 47554525 47554526 + Intron DEL CA - - 2011-2280:2012-366-T g.chr22:47554525_47554526delCA uc003bib.2 + TBC1D22A_uc010haf.2_Intron|TBC1D22A_uc003bic.2_Intron|TBC1D22A_uc003bie.2_Intron|TBC1D22A_uc003bid.2_Intron|TBC1D22A_uc010hag.2_Intron|TBC1D22A_uc003bif.2_Intron NM_014346 NP_055161 PBRM1 55193 broad.mit.edu 37 3 52651438 52651438 + Frame_Shift_Del DEL T - - 2011-2280:2012-366-T g.chr3:52651438delT uc003des.2 - 14 1670 c.1658delA c.(1657-1659)AAGfs p.K553fs PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Frame_Shift_Del_p.K553fs|PBRM1_uc003der.2_Frame_Shift_Del_p.K521fs|PBRM1_uc003det.2_Frame_Shift_Del_p.K568fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.K568fs|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Frame_Shift_Del_p.K553fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.K553fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.K553fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.K553fs|PBRM1_uc003dfb.1_Frame_Shift_Del_p.K466fs|PBRM1_uc003dfc.2_5'Flank NM_181042 NP_060635 BBX 56987 broad.mit.edu 37 3 107429275 107429276 + Intron DEL TC - - 2011-2280:2012-366-T g.chr3:107429275_107429276delTC uc010hpr.2 + BBX_uc003dwk.3_Intron|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Intron|BBX_uc003dwm.3_Intron NM_001142568 NP_001136040 BBX 56987 broad.mit.edu 37 3 107430302 107430302 + Intron DEL T - - 2011-2280:2012-366-T g.chr3:107430302delT uc010hpr.2 + BBX_uc003dwk.3_Intron|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Intron|BBX_uc003dwm.3_Intron NM_001142568 NP_001136040 PVRL3 25945 broad.mit.edu 37 3 110790415 110790415 + 5'Flank DEL T - - 2011-2280:2012-366-T g.chr3:110790415delT uc003dxt.1 + PVRL3_uc003dxu.1_5'Flank NM_015480 NP_056295 POLQ 10721 broad.mit.edu 37 3 121238933 121238933 + Intron DEL A - - 2011-2280:2012-366-T g.chr3:121238933delA uc003eee.3 - NM_199420 NP_955452 PDIA5 10954 broad.mit.edu 37 3 122870616 122870617 + Intron INS - G G 2011-2280:2012-366-T g.chr3:122870616_122870617insG uc003egc.1 + PDIA5_uc003egd.1_Intron NM_006810 NP_006801 ZIC4 84107 broad.mit.edu 37 3 147110328 147110328 + Intron DEL A - - 2011-2280:2012-366-T g.chr3:147110328delA uc003ewd.1 - ZIC4_uc003ewc.1_Intron|ZIC4_uc011bno.1_Intron NM_032153 NP_115529 GMPS 8833 broad.mit.edu 37 3 155643209 155643209 + Intron DEL C - - 2011-2280:2012-366-T g.chr3:155643209delC uc003faq.2 + GMPS_uc011bom.1_Intron NM_003875 NP_003866 MECOM 2122 broad.mit.edu 37 3 168863932 168863932 + Intron DEL A - - rs76374095 by1000genomes 2011-2280:2012-366-T g.chr3:168863932delA uc003ffi.3 - MECOM_uc003ffj.3_Intron|MECOM_uc011bpi.1_Intron|MECOM_uc003ffn.3_Intron|MECOM_uc003ffk.2_Intron|MECOM_uc003ffl.2_Intron|MECOM_uc011bpj.1_Intron|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Intron|MECOM_uc003ffm.1_5'Flank|MECOM_uc003ffo.1_RNA NM_005241 NP_005232 MECOM 2122 broad.mit.edu 37 3 169381815 169381815 + 5'Flank DEL A - - 2011-2280:2012-366-T g.chr3:169381815delA uc011bpj.1 - MECOM_uc011bpk.1_5'Flank|MECOM_uc010hwn.2_5'Flank|MECOM_uc011bpl.1_5'Flank NM_004991 NP_004982 PIK3CA 5290 broad.mit.edu 37 3 178867258 178867258 + Intron DEL T - - 2011-2280:2012-366-T g.chr3:178867258delT uc003fjk.2 + uc003fjj.2_5'Flank NM_006218 NP_006209 PIK3CA 5290 broad.mit.edu 37 3 178937631 178937631 + Intron DEL A - - 2011-2280:2012-366-T g.chr3:178937631delA uc003fjk.2 + NM_006218 NP_006209 ETV5 2119 broad.mit.edu 37 3 185827203 185827203 + 5'Flank DEL A - - 2011-2280:2012-366-T g.chr3:185827203delA uc003fpz.2 - ETV5_uc003fpy.2_5'Flank NM_004454 NP_004445 CRMP1 1400 broad.mit.edu 37 4 5858673 5858675 + Intron DEL CAT - - 2011-2280:2012-366-T g.chr4:5858673_5858675delCAT uc003gip.2 - CRMP1_uc003gin.1_Intron|CRMP1_uc003giq.2_Intron|CRMP1_uc003gir.2_Intron|CRMP1_uc003gis.2_Intron NM_001313 NP_001304 BST1 683 broad.mit.edu 37 4 15706135 15706136 + Intron DEL GT - - 2011-2280:2012-366-T g.chr4:15706135_15706136delGT uc003goh.3 + NM_004334 NP_004325 RELL1 768211 broad.mit.edu 37 4 37606475 37606476 + Intron DEL AC - - 2011-2280:2012-366-T g.chr4:37606475_37606476delAC uc003gsz.2 - NM_001085399 NP_001078868 KCTD8 386617 broad.mit.edu 37 4 44177044 44177044 + Frame_Shift_Del DEL T - - 2011-2280:2012-366-T g.chr4:44177044delT uc003gwu.2 - 2 1469 c.1185delA c.(1183-1185)AAAfs p.K395fs NM_198353 NP_938167 REST 5978 broad.mit.edu 37 4 57785837 57785837 + Intron DEL A - - 2011-2280:2012-366-T g.chr4:57785837delA uc003hch.2 + REST_uc003hci.2_Intron|REST_uc010ihf.2_Intron NM_005612 NP_005603 ANKRD17 26057 broad.mit.edu 37 4 74007867 74007867 + Intron DEL A - - 2011-2280:2012-366-T g.chr4:74007867delA uc003hgp.2 - ANKRD17_uc003hgo.2_Intron|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Intron|ANKRD17_uc011cbd.1_Intron NM_032217 NP_115593 TET2 54790 broad.mit.edu 37 4 106162145 106162145 + Intron DEL T - - 2011-2280:2012-366-T g.chr4:106162145delT uc003hxk.2 + TET2_uc011cez.1_Intron|TET2_uc003hxj.2_Intron|TET2_uc010ilp.1_Intron|TET2_uc003hxi.1_3'UTR NM_001127208 NP_001120680 CDH10 1008 broad.mit.edu 37 5 24535401 24535402 + Intron INS - A A 2011-2280:2012-366-T g.chr5:24535401_24535402insA uc003jgr.1 - CDH10_uc011cnu.1_Intron NM_006727 NP_006718 PIK3R1 5295 broad.mit.edu 37 5 67587922 67587922 + Intron DEL T - - 2011-2280:2012-366-T g.chr5:67587922delT uc003jva.2 + PIK3R1_uc003jvb.2_Intron|PIK3R1_uc003jvc.2_Intron|PIK3R1_uc003jvd.2_Intron|PIK3R1_uc003jve.2_5'UTR|PIK3R1_uc011crb.1_5'Flank NM_181523 NP_852664 MSH3 4437 broad.mit.edu 37 5 80083408 80083409 + Frame_Shift_Ins INS - T T 2011-2280:2012-366-T g.chr5:80083408_80083409insT uc003kgz.2 + 18 2713_2714 c.2460_2461insT c.(2458-2463)TCCTTGfs p.S820fs NM_002439 NP_002430 FAT2 2196 broad.mit.edu 37 5 150901789 150901789 + Intron DEL A - - rs66949589 2011-2280:2012-366-T g.chr5:150901789delA uc003lue.3 - GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Intron NM_001447 NP_001438 RANBP17 64901 broad.mit.edu 37 5 170598304 170598305 + Intron DEL TG - - 2011-2280:2012-366-T g.chr5:170598304_170598305delTG uc003mba.2 + RANBP17_uc003mbb.2_Intron NM_022897 NP_075048 ME1 4199 broad.mit.edu 37 6 83926334 83926334 + Intron DEL A - - 2011-2280:2012-366-T g.chr6:83926334delA uc003pjy.2 - ME1_uc011dzb.1_Intron|ME1_uc011dzc.1_Intron NM_002395 NP_002386 AIM1 202 broad.mit.edu 37 6 106975081 106975082 + Intron INS - TA TA rs145358428 by1000genomes 2011-2280:2012-366-T g.chr6:106975081_106975082insTA uc003prh.2 + NM_001624 NP_001615 TNFAIP3 7128 broad.mit.edu 37 6 138199945 138199945 + Frame_Shift_Del DEL G - - 2011-2280:2012-366-T g.chr6:138199945delG uc003qhr.2 + 7 1429 c.1363delG c.(1363-1365)GGGfs p.G455fs TNFAIP3_uc003qhs.2_Frame_Shift_Del_p.G455fs NM_006290 NP_006281 SYNE1 23345 broad.mit.edu 37 6 152578100 152578100 + Intron DEL T - - 2011-2280:2012-366-T g.chr6:152578100delT uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152725240 152725241 + Intron DEL AT - - 2011-2280:2012-366-T g.chr6:152725240_152725241delAT uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152772035 152772035 + Intron DEL A - - 2011-2280:2012-366-T g.chr6:152772035delA uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qow.2_Intron|SYNE1_uc003qox.1_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152793344 152793344 + Intron DEL A - - 2011-2280:2012-366-T g.chr6:152793344delA uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qpa.1_Intron|SYNE1_uc003qox.1_Intron|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Intron NM_182961 NP_892006 ADAP1 11033 broad.mit.edu 37 7 945360 945361 + Intron INS - A A rs147722082 by1000genomes 2011-2280:2012-366-T g.chr7:945360_945361insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PMS2 5395 broad.mit.edu 37 7 6036896 6036896 + Intron DEL A - - 2011-2280:2012-366-T g.chr7:6036896delA uc003spl.2 - PMS2_uc003spj.2_Intron|PMS2_uc003spk.2_Intron|PMS2_uc011jwl.1_Intron|PMS2_uc010ktg.2_Intron|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Intron NM_000535 NP_000526 AOAH 313 broad.mit.edu 37 7 36555174 36555174 + Intron DEL C - - 2011-2280:2012-366-T g.chr7:36555174delC uc003tfh.3 - AOAH_uc010kxf.2_Intron|AOAH_uc011kba.1_Intron NM_001637 NP_001628 DTX2 113878 broad.mit.edu 37 7 76116164 76116166 + Intron DEL GCT - - rs57887395;rs79153110 by1000genomes 2011-2280:2012-366-T g.chr7:76116164_76116166delGCT uc003uff.3 + DTX2_uc011kgk.1_Intron|DTX2_uc003ufg.3_Intron|DTX2_uc003ufh.3_Intron|DTX2_uc003ufj.3_Intron NM_020892 NP_065943 PCLO 27445 broad.mit.edu 37 7 82584850 82584851 + Frame_Shift_Ins INS - T T 2011-2280:2012-366-T g.chr7:82584850_82584851insT uc003uhx.2 - 5 5707_5708 c.5418_5419insA c.(5416-5421)AAATCAfs p.K1806fs PCLO_uc003uhv.2_Frame_Shift_Ins_p.K1806fs NM_033026 NP_149015 SMURF1 57154 broad.mit.edu 37 7 98630575 98630575 + Intron DEL A - - 2011-2280:2012-366-T g.chr7:98630575delA uc003upu.1 - SMURF1_uc003upv.1_Intron|SMURF1_uc003upt.2_Intron|TRRAP_uc003ups.2_RNA NM_020429 NP_065162 SLC26A3 1811 broad.mit.edu 37 7 107407972 107407972 + Intron DEL T - - 2011-2280:2012-366-T g.chr7:107407972delT uc003ver.2 - SLC26A3_uc003ves.2_Intron NM_000111 NP_000102 SLC26A3 1811 broad.mit.edu 37 7 107408128 107408128 + Intron DEL T - - 2011-2280:2012-366-T g.chr7:107408128delT uc003ver.2 - SLC26A3_uc003ves.2_Intron NM_000111 NP_000102 LAMB1 3912 broad.mit.edu 37 7 107635419 107635419 + Intron DEL A - - 2011-2280:2012-366-T g.chr7:107635419delA uc003vew.2 - LAMB1_uc003vev.2_Intron|LAMB1_uc003vex.2_Intron|LAMB1_uc010ljn.1_Intron NM_002291 NP_002282 BRAF 673 broad.mit.edu 37 7 140434575 140434575 + Intron DEL A - - rs151306633 2011-2280:2012-366-T g.chr7:140434575delA uc003vwc.3 - NM_004333 NP_004324 BRAF 673 broad.mit.edu 37 7 140508254 140508256 + Intron DEL TTT - - 2011-2280:2012-366-T g.chr7:140508254_140508256delTTT uc003vwc.3 - NM_004333 NP_004324 MLL3 58508 broad.mit.edu 37 7 151851246 151851246 + Intron DEL A - - 2011-2280:2012-366-T g.chr7:151851246delA uc003wla.2 - MLL3_uc003wkz.2_Intron|MLL3_uc003wkx.2_Intron|MLL3_uc003wky.2_Intron NM_170606 NP_733751 MLL3 58508 broad.mit.edu 37 7 151902167 151902167 + Intron DEL T - - 2011-2280:2012-366-T g.chr7:151902167delT uc003wla.2 - MLL3_uc003wkz.2_Intron NM_170606 NP_733751 ARHGEF10 9639 broad.mit.edu 37 8 1781173 1781174 + Intron INS - AGAC AGAC 2011-2280:2012-366-T g.chr8:1781173_1781174insAGAC uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 RB1CC1 9821 broad.mit.edu 37 8 53547441 53547441 + Intron DEL A - - 2011-2280:2012-366-T g.chr8:53547441delA uc003xre.3 - RB1CC1_uc003xrf.3_Intron NM_014781 NP_055596 RIMS2 9699 broad.mit.edu 37 8 104922315 104922316 + Intron DEL TT - - 2011-2280:2012-366-T g.chr8:104922315_104922316delTT uc003yls.2 + RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Intron|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank NM_014677 NP_055492 RIMS2 9699 broad.mit.edu 37 8 105010355 105010355 + Intron DEL T - - 2011-2280:2012-366-T g.chr8:105010355delT uc003yls.2 + RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Intron|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 CSMD3 114788 broad.mit.edu 37 8 113363349 113363350 + Intron INS - T T rs7003308 by1000genomes 2011-2280:2012-366-T g.chr8:113363349_113363350insT uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 TRAPPC9 83696 broad.mit.edu 37 8 141167393 141167393 + Intron DEL T - - 2011-2280:2012-366-T g.chr8:141167393delT uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 PLEC 5339 broad.mit.edu 37 8 144993236 144993238 + In_Frame_Del DEL TGG - - 2011-2280:2012-366-T g.chr8:144993236_144993238delTGG uc003zaf.1 - 32 11332_11334 c.11162_11164delCCA c.(11161-11166)ACCATG>ATG p.T3721del PLEC_uc003zab.1_In_Frame_Del_p.T3584del|PLEC_uc003zac.1_In_Frame_Del_p.T3588del|PLEC_uc003zad.2_In_Frame_Del_p.T3584del|PLEC_uc003zae.1_In_Frame_Del_p.T3552del|PLEC_uc003zag.1_In_Frame_Del_p.T3562del|PLEC_uc003zah.2_In_Frame_Del_p.T3570del|PLEC_uc003zaj.2_In_Frame_Del_p.T3611del NM_201380 NP_958782 ARHGAP39 80728 broad.mit.edu 37 8 145756685 145756688 + Intron DEL CAGG - - rs72302949 2011-2280:2012-366-T g.chr8:145756685_145756688delCAGG uc003zdt.1 - MGC70857_uc003zdp.1_5'Flank|MGC70857_uc003zdq.1_5'Flank|MGC70857_uc003zdr.1_5'Flank|ARHGAP39_uc011llk.1_Intron|ARHGAP39_uc003zds.1_Intron NM_025251 NP_079527 ARHGAP39 80728 broad.mit.edu 37 8 145756691 145756693 + Intron DEL AGG - - rs71837446;rs4925831 2011-2280:2012-366-T g.chr8:145756691_145756693delAGG uc003zdt.1 - MGC70857_uc003zdp.1_5'Flank|MGC70857_uc003zdq.1_5'Flank|MGC70857_uc003zdr.1_5'Flank|ARHGAP39_uc011llk.1_Intron|ARHGAP39_uc003zds.1_Intron NM_025251 NP_079527 FANCC 2176 broad.mit.edu 37 9 97897507 97897508 + Intron DEL TA - - 2011-2280:2012-366-T g.chr9:97897507_97897508delTA uc004avh.2 - FANCC_uc004avi.3_Intron NM_000136 NP_000127 RALGDS 5900 broad.mit.edu 37 9 135999261 135999262 + 5'Flank INS - CA CA 2011-2280:2012-366-T g.chr9:135999261_135999262insCA uc004cco.2 - RALGDS_uc004ccp.2_5'Flank|RALGDS_uc004ccq.2_5'Flank|RALGDS_uc004ccr.2_Intron|RALGDS_uc011mcv.1_Intron|RALGDS_uc004ccs.2_Intron|RALGDS_uc011mcw.1_Intron NM_006266 NP_006257 OLFM1 10439 broad.mit.edu 37 9 137983436 137983437 + Intron DEL GT - - 2011-2280:2012-366-T g.chr9:137983436_137983437delGT uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfk.3_Intron|OLFM1_uc004cfm.3_Intron NM_014279 NP_055094 OLFM1 10439 broad.mit.edu 37 9 137983443 137983444 + Intron INS - GT GT rs112221318 by1000genomes 2011-2280:2012-366-T g.chr9:137983443_137983444insGT uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfk.3_Intron|OLFM1_uc004cfm.3_Intron NM_014279 NP_055094 OLFM1 10439 broad.mit.edu 37 9 137983455 137983456 + Intron INS - CA CA 2011-2280:2012-366-T g.chr9:137983455_137983456insCA uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfk.3_Intron|OLFM1_uc004cfm.3_Intron NM_014279 NP_055094 OLFM1 10439 broad.mit.edu 37 9 137983472 137983473 + Intron DEL CT - - rs62636477 2011-2280:2012-366-T g.chr9:137983472_137983473delCT uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfk.3_Intron|OLFM1_uc004cfm.3_Intron NM_014279 NP_055094 OLFM1 10439 broad.mit.edu 37 9 137983482 137983483 + Intron DEL CA - - 2011-2280:2012-366-T g.chr9:137983482_137983483delCA uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfk.3_Intron|OLFM1_uc004cfm.3_Intron NM_014279 NP_055094 FANCB 2187 broad.mit.edu 37 X 14868472 14868473 + Intron DEL AA - - 2011-2280:2012-366-T g.chrX:14868472_14868473delAA uc004cwg.1 - FANCB_uc004cwh.1_Intron NM_001018113 NP_001018123 DDX3X 1654 broad.mit.edu 37 X 41193525 41193525 + Frame_Shift_Del DEL A - - 2011-2280:2012-366-T g.chrX:41193525delA uc004dfe.2 + 1 875 c.20delA c.(19-21)GAAfs p.E7fs DDX3X_uc004dfd.1_RNA|DDX3X_uc010nhf.1_Frame_Shift_Del_p.E7fs|DDX3X_uc004dff.2_Frame_Shift_Del_p.E7fs|DDX3X_uc011mkq.1_Frame_Shift_Del_p.E7fs|DDX3X_uc011mkr.1_Frame_Shift_Del_p.E7fs|DDX3X_uc011mks.1_Frame_Shift_Del_p.E7fs|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_5'Flank NM_001356 NP_001347 NRK 203447 broad.mit.edu 37 X 105150376 105150376 + Intron DEL T - - 2011-2280:2012-366-T g.chrX:105150376delT uc004emd.2 + NRK_uc010npc.1_Intron NM_198465 NP_940867 NRK 203447 broad.mit.edu 37 X 105156736 105156736 + Frame_Shift_Del DEL A - - 2011-2280:2012-366-T g.chrX:105156736delA uc004emd.2 + 14 2641 c.2338delA c.(2338-2340)AAAfs p.K780fs NRK_uc010npc.1_Frame_Shift_Del_p.K448fs NM_198465 NP_940867 PRDM16 63976 broad.mit.edu 37 1 3030870 3030871 + Intron DEL CA - - 2011-2281:2012-1329-T g.chr1:3030870_3030871delCA uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 LGR6 59352 broad.mit.edu 37 1 202174135 202174136 + Intron INS - AA AA rs143747075 2011-2281:2012-1329-T g.chr1:202174135_202174136insAA uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 LGR6 59352 broad.mit.edu 37 1 202174248 202174249 + Intron INS - AC AC 2011-2281:2012-1329-T g.chr1:202174248_202174249insAC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 FAM101A 144347 broad.mit.edu 37 12 124787399 124787400 + Intron INS - A A 2011-2281:2012-1329-T g.chr12:124787399_124787400insA uc001ugd.1 + FAM101A_uc001uge.1_Intron NM_181709 NP_859060 TNFSF13B 10673 broad.mit.edu 37 13 108930927 108930928 + Intron INS - C C 2011-2281:2012-1329-T g.chr13:108930927_108930928insC uc001vqr.2 + TNFSF13B_uc010agj.2_Intron NM_006573 NP_006564 LMF1 64788 broad.mit.edu 37 16 1011225 1011226 + Intron DEL AC - - 2011-2281:2012-1329-T g.chr16:1011225_1011226delAC uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 CPNE7 27132 broad.mit.edu 37 16 89654262 89654263 + Intron INS - CACCCCCG CACCCCCG rs140122467 by1000genomes 2011-2281:2012-1329-T g.chr16:89654262_89654263insCACCCCCG uc002fnp.2 + CPNE7_uc002fnq.2_Intron NM_014427 NP_055242 CPNE7 27132 broad.mit.edu 37 16 89654263 89654264 + Intron INS - GTC GTC rs140122467 by1000genomes 2011-2281:2012-1329-T g.chr16:89654263_89654264insGTC uc002fnp.2 + CPNE7_uc002fnq.2_Intron NM_014427 NP_055242 DPEP1 1800 broad.mit.edu 37 16 89701076 89701077 + Intron INS - T T 2011-2281:2012-1329-T g.chr16:89701076_89701077insT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 EMR2 30817 broad.mit.edu 37 19 14874678 14874678 + Intron DEL C - - 2011-2281:2012-1329-T g.chr19:14874678delC uc002mzp.1 - EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Intron|EMR2_uc002mzq.1_Intron|EMR2_uc002mzr.1_Intron|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Intron|EMR2_uc002mzu.1_Intron|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron NM_013447 NP_038475 PPP1R12C 54776 broad.mit.edu 37 19 55608737 55608738 + Intron INS - CAC CAC 2011-2281:2012-1329-T g.chr19:55608737_55608738insCAC uc002qix.2 - PPP1R12C_uc010yfs.1_Intron|PPP1R12C_uc002qiy.2_Intron NM_017607 NP_060077 GMEB2 26205 broad.mit.edu 37 20 62239133 62239134 + Intron INS - CA CA 2011-2281:2012-1329-T g.chr20:62239133_62239134insCA uc002yfp.1 - GMEB2_uc002yfo.1_5'Flank|GMEB2_uc002yfq.1_Intron NM_012384 NP_036516 TPPP 11076 broad.mit.edu 37 5 677123 677124 + Intron INS - A A 2011-2281:2012-1329-T g.chr5:677123_677124insA uc003jbg.3 - TPPP_uc003jbh.3_Intron NM_007030 NP_008961 ADAP1 11033 broad.mit.edu 37 7 945113 945114 + Intron INS - A A 2011-2281:2012-1329-T g.chr7:945113_945114insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 CSMD3 114788 broad.mit.edu 37 8 113266654 113266660 + Intron DEL AGGATCT - - 2011-2281:2012-1329-T g.chr8:113266654_113266660delAGGATCT uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 COL22A1 169044 broad.mit.edu 37 8 139817526 139817527 + Intron INS - GT GT 2011-2281:2012-1329-T g.chr8:139817526_139817527insGT uc003yvd.2 - NM_152888 NP_690848 OLFM1 10439 broad.mit.edu 37 9 137983482 137983483 + Intron DEL CA - - 2011-2281:2012-1329-T g.chr9:137983482_137983483delCA uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfk.3_Intron|OLFM1_uc004cfm.3_Intron NM_014279 NP_055094 OLFM1 10439 broad.mit.edu 37 9 137983492 137983493 + Intron DEL CA - - 2011-2281:2012-1329-T g.chr9:137983492_137983493delCA uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfk.3_Intron|OLFM1_uc004cfm.3_Intron NM_014279 NP_055094 KIF21B 23046 broad.mit.edu 37 1 200976146 200976147 + Intron DEL AC - - 2011-2282:2012-1330-T g.chr1:200976146_200976147delAC uc001gvs.1 - KIF21B_uc001gvr.1_Intron|KIF21B_uc009wzl.1_Intron|KIF21B_uc010ppn.1_Intron|KIF21B_uc001gvt.1_5'Flank NM_017596 NP_060066 LGR6 59352 broad.mit.edu 37 1 202173569 202173577 + Intron DEL ACACCTCCA - - 2011-2282:2012-1330-T g.chr1:202173569_202173577delACACCTCCA uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 LGR6 59352 broad.mit.edu 37 1 202174053 202174054 + Intron DEL AC - - 2011-2282:2012-1330-T g.chr1:202174053_202174054delAC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 LGR6 59352 broad.mit.edu 37 1 202174494 202174495 + Intron DEL CC - - 2011-2282:2012-1330-T g.chr1:202174494_202174495delCC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 LGR6 59352 broad.mit.edu 37 1 202174498 202174509 + Intron DEL ACACACACACCT - - rs150017503;rs141873830;rs138471820 2011-2282:2012-1330-T g.chr1:202174498_202174509delACACACACACCT uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 FAIM3 9214 broad.mit.edu 37 1 207097399 207097400 + 5'Flank DEL GT - - 2011-2282:2012-1330-T g.chr1:207097399_207097400delGT uc001hey.2 - FAIM3_uc010prz.1_5'Flank|FAIM3_uc010psa.1_5'Flank|FAIM3_uc010psb.1_5'Flank NM_005449 NP_005440 CCDC6 8030 broad.mit.edu 37 10 61642286 61642290 + Intron DEL AAGGA - - 2011-2282:2012-1330-T g.chr10:61642286_61642290delAAGGA uc001jks.3 - NM_005436 NP_005427 CCDC6 8030 broad.mit.edu 37 10 61642300 61642301 + Intron DEL CG - - 2011-2282:2012-1330-T g.chr10:61642300_61642301delCG uc001jks.3 - NM_005436 NP_005427 SWAP70 23075 broad.mit.edu 37 11 9727451 9727452 + Intron INS - T T 2011-2282:2012-1330-T g.chr11:9727451_9727452insT uc001mhw.2 + SWAP70_uc001mhv.2_Intron|SWAP70_uc001mhx.2_Intron NM_015055 NP_055870 RB1 5925 broad.mit.edu 37 13 48954159 48954160 + Intron INS - T T 2011-2282:2012-1330-T g.chr13:48954159_48954160insT uc001vcb.2 + NM_000321 NP_000312 DECR2 26063 broad.mit.edu 37 16 458213 458214 + Intron DEL CT - - 2011-2282:2012-1330-T g.chr16:458213_458214delCT uc002chb.2 + DECR2_uc002chc.2_Intron|DECR2_uc010bqv.2_Intron|DECR2_uc002chd.2_Intron|DECR2_uc002che.1_Intron NM_020664 NP_065715 ZNF778 197320 broad.mit.edu 37 16 89289322 89289322 + Intron DEL T - - 2011-2282:2012-1330-T g.chr16:89289322delT uc002fmv.2 + ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Intron|ZNF778_uc010vpg.1_Intron NM_182531 NP_872337 TIMM22 29928 broad.mit.edu 37 17 897483 897483 + 5'Flank DEL C - - rs111389070 2011-2282:2012-1330-T g.chr17:897483delC uc002fsc.2 + NM_013337 NP_037469 TIMM22 29928 broad.mit.edu 37 17 897591 897591 + 5'Flank DEL C - - rs71148412 2011-2282:2012-1330-T g.chr17:897591delC uc002fsc.2 + NM_013337 NP_037469 ABR 29 broad.mit.edu 37 17 1021042 1021043 + Intron INS - T T rs66551865 2011-2282:2012-1330-T g.chr17:1021042_1021043insT uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 MED1 5469 broad.mit.edu 37 17 37607722 37607722 + 5'Flank DEL T - - rs72286452 2011-2282:2012-1330-T g.chr17:37607722delT uc002hrv.3 - MED1_uc010wee.1_5'Flank|MED1_uc002hru.2_5'Flank NM_004774 NP_004765 TBCD 6904 broad.mit.edu 37 17 80807863 80807864 + Intron INS - CTCTT CTCTT 2011-2282:2012-1330-T g.chr17:80807863_80807864insCTCTT uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 NFATC1 4772 broad.mit.edu 37 18 77177326 77177332 + Intron DEL GGAGATC - - rs71953238 2011-2282:2012-1330-T g.chr18:77177326_77177332delGGAGATC uc010xfg.1 + NFATC1_uc002lnc.1_Intron|NFATC1_uc010xff.1_Intron|NFATC1_uc002lnd.2_Intron|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfi.1_Intron|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Intron|NFATC1_uc002lng.2_Intron|NFATC1_uc010xfk.1_Intron NM_006162 NP_006153 MED16 10025 broad.mit.edu 37 19 878242 878248 + Intron DEL CCCCAGC - - rs72504524 2011-2282:2012-1330-T g.chr19:878242_878248delCCCCAGC uc002lqd.1 - MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Intron|MED16_uc002lqf.2_Intron|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron NM_005481 NP_005472 BMP7 655 broad.mit.edu 37 20 55794255 55794257 + Intron DEL TGG - - 2011-2282:2012-1330-T g.chr20:55794255_55794257delTGG uc010gip.1 - BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Intron NM_001719 NP_001710 EEF1A2 1917 broad.mit.edu 37 20 62123799 62123802 + Intron DEL ATGG - - 2011-2282:2012-1330-T g.chr20:62123799_62123802delATGG uc002yfd.1 - EEF1A2_uc002yfe.1_Intron|EEF1A2_uc010gkg.1_Intron NM_001958 NP_001949 BAGE2 85319 broad.mit.edu 37 21 11047597 11047598 + Splice_Site INS - A A 2011-2282:2012-1330-T g.chr21:11047597_11047598insA uc002yit.1 - 5 660 c.452_splice c.e5-1 NM_182482 NP_872288 DSCAM 1826 broad.mit.edu 37 21 41658774 41658775 + Intron INS - A A rs62223768;rs62223769 2011-2282:2012-1330-T g.chr21:41658774_41658775insA uc002yyq.1 - DSCAM_uc002yyr.1_Intron NM_001389 NP_001380 HSF2BP 11077 broad.mit.edu 37 21 45024335 45024336 + Intron DEL CA - - 2011-2282:2012-1330-T g.chr21:45024335_45024336delCA uc002zdi.2 - HSF2BP_uc011aey.1_Intron NM_007031 NP_008962 COL18A1 80781 broad.mit.edu 37 21 46903847 46903848 + Intron DEL CA - - rs71982629 2011-2282:2012-1330-T g.chr21:46903847_46903848delCA uc011afs.1 + COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Intron NM_130444 NP_569711 TP63 8626 broad.mit.edu 37 3 189348969 189348973 + 5'Flank DEL CTCCA - - rs76937731 2011-2282:2012-1330-T g.chr3:189348969_189348973delCTCCA uc003fry.2 + TP63_uc003frx.2_5'Flank|TP63_uc003frz.2_5'Flank|TP63_uc010hzc.1_5'Flank NM_003722 NP_003713 AHRR 57491 broad.mit.edu 37 5 344878 344879 + Intron DEL GT - - rs145431682;rs12519368 2011-2282:2012-1330-T g.chr5:344878_344879delGT uc003jav.2 + AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Intron NM_020731 NP_065782 CEP72 55722 broad.mit.edu 37 5 649393 649394 + Intron INS - G G 2011-2282:2012-1330-T g.chr5:649393_649394insG uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1071733 1071733 + Intron DEL C - - 2011-2282:2012-1330-T g.chr5:1071733delC uc003jbu.2 - NM_006598 NP_006589 SLC12A7 10723 broad.mit.edu 37 5 1072336 1072336 + Intron DEL C - - rs71281503 2011-2282:2012-1330-T g.chr5:1072336delC uc003jbu.2 - NM_006598 NP_006589 TERT 7015 broad.mit.edu 37 5 1273411 1273412 + Intron INS - CA CA 2011-2282:2012-1330-T g.chr5:1273411_1273412insCA uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 SLC6A3 6531 broad.mit.edu 37 5 1422600 1422601 + Intron DEL CA - - 2011-2282:2012-1330-T g.chr5:1422600_1422601delCA uc003jck.2 - NM_001044 NP_001035 ADAMTS16 170690 broad.mit.edu 37 5 5305406 5305407 + Intron DEL CA - - 2011-2282:2012-1330-T g.chr5:5305406_5305407delCA uc003jdl.2 + NM_139056 NP_620687 GMDS 2762 broad.mit.edu 37 6 1927592 1927592 + Intron DEL T - - rs67316164 2011-2282:2012-1330-T g.chr6:1927592delT uc003mtq.2 - NM_001500 NP_001491 WDR27 253769 broad.mit.edu 37 6 170054813 170054815 + Intron DEL AGA - - 2011-2282:2012-1330-T g.chr6:170054813_170054815delAGA uc003qwx.2 - WDR27_uc003qwv.1_Intron|WDR27_uc010kkw.1_Intron|WDR27_uc003qwy.2_Intron PSMB1 5689 broad.mit.edu 37 6 170783956 170783956 + Intron DEL C - - rs112303146 2011-2282:2012-1330-T g.chr6:170783956delC uc003qxq.2 - NM_002793 ADAP1 11033 broad.mit.edu 37 7 945360 945361 + Intron INS - A A rs147722082 by1000genomes 2011-2282:2012-1330-T g.chr7:945360_945361insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945964 945965 + Intron INS - A A 2011-2282:2012-1330-T g.chr7:945964_945965insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 982890 982891 + Intron DEL GG - - 2011-2282:2012-1330-T g.chr7:982890_982891delGG uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 982936 982938 + Intron DEL GAC - - rs139903029 by1000genomes 2011-2282:2012-1330-T g.chr7:982936_982938delGAC uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PRKAG2 51422 broad.mit.edu 37 7 151367092 151367093 + Intron INS - CA CA 2011-2282:2012-1330-T g.chr7:151367092_151367093insCA uc003wkk.2 - PRKAG2_uc011kvl.1_Intron|PRKAG2_uc003wkj.2_Intron|PRKAG2_uc010lqe.1_Intron NM_016203 NP_057287 ZFAT 57623 broad.mit.edu 37 8 135602795 135602797 + Intron DEL CAC - - rs35087145 2011-2282:2012-1330-T g.chr8:135602795_135602797delCAC uc003yup.2 - ZFAT_uc003yun.2_Intron|ZFAT_uc003yuo.2_Intron|ZFAT_uc010meh.2_Intron|ZFAT_uc010mei.2_Intron|ZFAT_uc003yuq.2_Intron|ZFAT_uc010mej.2_Intron NM_020863 NP_065914 ZCCHC7 84186 broad.mit.edu 37 9 37172824 37172824 + Intron DEL A - - 2011-2282:2012-1330-T g.chr9:37172824delA uc003zzq.2 + ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Intron|ZCCHC7_uc010mlt.2_Intron|ZCCHC7_uc003zzs.1_Intron NM_032226 NP_115602 GOLM1 51280 broad.mit.edu 37 9 88668484 88668485 + Intron DEL AT - - rs117098676 2011-2282:2012-1330-T g.chr9:88668484_88668485delAT uc004aol.2 - GOLM1_uc010mqd.1_Intron|GOLM1_uc004aom.2_Intron NM_016548 NP_057632 LAMC3 10319 broad.mit.edu 37 9 133907919 133907922 + Intron DEL CTGT - - rs71501238;rs71389384 2011-2282:2012-1330-T g.chr9:133907919_133907922delCTGT uc004caa.1 + NM_006059 NP_006050 POMT1 10585 broad.mit.edu 37 9 134391370 134391371 + Intron INS - GG GG 2011-2282:2012-1330-T g.chr9:134391370_134391371insGG uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 POMT1 10585 broad.mit.edu 37 9 134391371 134391372 + Intron INS - GCACTTC GCACTTC 2011-2282:2012-1330-T g.chr9:134391371_134391372insGCACTTC uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 POMT1 10585 broad.mit.edu 37 9 134391531 134391534 + Intron DEL CTAA - - 2011-2282:2012-1330-T g.chr9:134391531_134391534delCTAA uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 POMT1 10585 broad.mit.edu 37 9 134391538 134391539 + Intron INS - G G 2011-2282:2012-1330-T g.chr9:134391538_134391539insG uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 POMT1 10585 broad.mit.edu 37 9 134391541 134391542 + Intron INS - G G rs111862656 2011-2282:2012-1330-T g.chr9:134391541_134391542insG uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 OLFM1 10439 broad.mit.edu 37 9 138011296 138011297 + Intron INS - A A 2011-2282:2012-1330-T g.chr9:138011296_138011297insA uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfn.3_Intron NM_014279 NP_055094 MAN1B1 11253 broad.mit.edu 37 9 139998142 139998143 + Intron DEL AT - - 2011-2282:2012-1330-T g.chr9:139998142_139998143delAT uc004cld.2 + MAN1B1_uc011meo.1_Intron|MAN1B1_uc011mep.1_Intron|MAN1B1_uc010ncc.2_Intron|MAN1B1_uc004clf.1_5'UTR|MAN1B1_uc004clg.1_5'Flank NM_016219 NP_057303 AGRN 375790 broad.mit.edu 37 1 966012 966013 + Intron DEL GA - - 2011-2283:2012-316-T g.chr1:966012_966013delGA uc001ack.1 + NM_198576 NP_940978 GUCA2A 2980 broad.mit.edu 37 1 42632473 42632474 + 5'Flank INS - GT GT rs140638678 by1000genomes 2011-2283:2012-316-T g.chr1:42632473_42632474insGT uc001chd.1 - NM_033553 NP_291031 LGR6 59352 broad.mit.edu 37 1 202173859 202173862 + Intron DEL ACAC - - 2011-2283:2012-316-T g.chr1:202173859_202173862delACAC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 LGR6 59352 broad.mit.edu 37 1 202174248 202174249 + Intron INS - AC AC 2011-2283:2012-316-T g.chr1:202174248_202174249insAC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 LGR6 59352 broad.mit.edu 37 1 202174494 202174495 + Intron DEL CC - - 2011-2283:2012-316-T g.chr1:202174494_202174495delCC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 LGR6 59352 broad.mit.edu 37 1 202174498 202174509 + Intron DEL ACACACACACCT - - rs150017503;rs141873830;rs138471820 2011-2283:2012-316-T g.chr1:202174498_202174509delACACACACACCT uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 ADAM12 8038 broad.mit.edu 37 10 127847014 127847014 + Intron DEL C - - rs66634335 2011-2283:2012-316-T g.chr10:127847014delC uc001ljk.2 - ADAM12_uc010qul.1_Intron|ADAM12_uc001ljm.2_Intron|ADAM12_uc001ljn.2_Intron|ADAM12_uc001ljl.3_Intron NM_003474 NP_003465 ADAM12 8038 broad.mit.edu 37 10 127847109 127847110 + Intron INS - A A rs146194541 by1000genomes 2011-2283:2012-316-T g.chr10:127847109_127847110insA uc001ljk.2 - ADAM12_uc010qul.1_Intron|ADAM12_uc001ljm.2_Intron|ADAM12_uc001ljn.2_Intron|ADAM12_uc001ljl.3_Intron NM_003474 NP_003465 ADAM12 8038 broad.mit.edu 37 10 127847110 127847111 + Intron INS - A A rs146194541;rs66694327 by1000genomes 2011-2283:2012-316-T g.chr10:127847110_127847111insA uc001ljk.2 - ADAM12_uc010qul.1_Intron|ADAM12_uc001ljm.2_Intron|ADAM12_uc001ljn.2_Intron|ADAM12_uc001ljl.3_Intron NM_003474 NP_003465 KNDC1 85442 broad.mit.edu 37 10 135037318 135037319 + Intron INS - GT GT 2011-2283:2012-316-T g.chr10:135037318_135037319insGT uc001llz.1 + NM_152643 NP_689856 BRSK2 9024 broad.mit.edu 37 11 1461123 1461124 + Intron INS - T T 2011-2283:2012-316-T g.chr11:1461123_1461124insT uc001lti.2 + BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001ltj.2_Intron|BRSK2_uc001ltk.2_Intron|BRSK2_uc001ltl.2_Intron|BRSK2_uc001ltm.2_Intron|BRSK2_uc001ltn.2_Intron|BRSK2_uc010qwx.1_5'Flank NM_003957 NP_003948 TPCN2 219931 broad.mit.edu 37 11 68832398 68832399 + Intron DEL TG - - rs36072808;rs71949772 2011-2283:2012-316-T g.chr11:68832398_68832399delTG uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron NM_139075 NP_620714 PIWIL1 9271 broad.mit.edu 37 12 130837974 130837974 + Intron DEL T - - 2011-2283:2012-316-T g.chr12:130837974delT uc001uik.2 + PIWIL1_uc001uij.1_Intron NM_004764 NP_004755 RIMBP2 23504 broad.mit.edu 37 12 131068783 131068788 + Intron DEL CACCAT - - rs139932122;rs146226486 2011-2283:2012-316-T g.chr12:131068783_131068788delCACCAT uc001uim.2 - DPEP1 1800 broad.mit.edu 37 16 89701321 89701321 + Intron DEL C - - 2011-2283:2012-316-T g.chr16:89701321delC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 RPH3AL 9501 broad.mit.edu 37 17 165110 165110 + Intron DEL C - - 2011-2283:2012-316-T g.chr17:165110delC uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 ABR 29 broad.mit.edu 37 17 1021075 1021075 + Intron DEL C - - rs112836876 2011-2283:2012-316-T g.chr17:1021075delC uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 LYPD5 284348 broad.mit.edu 37 19 44302254 44302254 + Intron DEL C - - rs112453679 2011-2283:2012-316-T g.chr19:44302254delC uc002oxm.3 - LYPD5_uc002oxn.3_Intron NM_001031749 NP_001026919 RAB3GAP1 22930 broad.mit.edu 37 2 135875114 135875116 + Intron DEL CTT - - rs5834435;rs148531320 2011-2283:2012-316-T g.chr2:135875114_135875116delCTT uc002tuj.2 + RAB3GAP1_uc010fnf.2_Intron|RAB3GAP1_uc010fng.2_Intron|RAB3GAP1_uc010fnh.1_Intron NM_012233 NP_036365 TRPC4AP 26133 broad.mit.edu 37 20 33647715 33647717 + Intron DEL GAA - - rs72187724 2011-2283:2012-316-T g.chr20:33647715_33647717delGAA uc002xbk.2 - TRPC4AP_uc002xbl.2_Intron|TRPC4AP_uc010zur.1_Intron|TRPC4AP_uc002xbm.1_Intron NM_015638 NP_056453 RUNX1 861 broad.mit.edu 37 21 36260999 36261000 + 5'Flank INS - T T 2011-2283:2012-316-T g.chr21:36260999_36261000insT uc002yuh.2 - RUNX1_uc002yut.1_Intron|RUNX1_uc002yui.2_5'Flank|RUNX1_uc010gmu.2_Intron|RUNX1_uc010gmv.2_Intron|RUNX1_uc002yuj.3_Intron|RUNX1_uc002yuk.3_Intron|RUNX1_uc002yum.1_Intron|RUNX1_uc010gmw.1_Intron|RUNX1_uc002yuo.1_5'Flank NM_001001890 NP_001001890 PHF21B 112885 broad.mit.edu 37 22 45280551 45280552 + Intron INS - CAC CAC rs145192559;rs140838666 by1000genomes 2011-2283:2012-316-T g.chr22:45280551_45280552insCAC uc003bfn.2 - PHF21B_uc003bfm.2_Intron|PHF21B_uc011aqk.1_Intron|PHF21B_uc011aql.1_Intron NM_138415 NP_612424 GAK 2580 broad.mit.edu 37 4 908065 908066 + Intron DEL CA - - 2011-2283:2012-316-T g.chr4:908065_908066delCA uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_Intron|GAK_uc003gbl.3_5'Flank NM_005255 NP_005246 KIT 3815 broad.mit.edu 37 4 55573491 55573491 + Intron DEL C - - 2011-2283:2012-316-T g.chr4:55573491delC uc010igr.2 + KIT_uc010igs.2_Intron NM_000222 NP_000213 FAT1 2195 broad.mit.edu 37 4 187557948 187557949 + Frame_Shift_Ins INS - GAGT GAGT 2011-2283:2012-316-T g.chr4:187557948_187557949insGAGT uc003izf.2 - 5 3950_3951 c.3762_3763insACTC c.(3760-3765)CTCCCTfs p.L1254fs NM_005245 NP_005236 IL6ST 3572 broad.mit.edu 37 5 55278829 55278829 + Intron DEL T - - rs111793262 2011-2283:2012-316-T g.chr5:55278829delT uc003jqq.2 - IL6ST_uc011cqk.1_5'Flank|IL6ST_uc003jqr.2_Intron NM_002184 NP_002175 RNASET2 8635 broad.mit.edu 37 6 167368882 167368883 + Intron DEL CG - - 2011-2283:2012-316-T g.chr6:167368882_167368883delCG uc003qve.2 - RNASET2_uc003qvh.2_Intron|RNASET2_uc003qvf.2_Intron|RNASET2_uc003qvg.2_Intron|RNASET2_uc003qvi.1_Intron NM_003730 NP_003721 ADAP1 11033 broad.mit.edu 37 7 945360 945361 + Intron INS - A A rs147722082 by1000genomes 2011-2283:2012-316-T g.chr7:945360_945361insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945964 945965 + Intron INS - A A 2011-2283:2012-316-T g.chr7:945964_945965insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PLXNA4 91584 broad.mit.edu 37 7 132249133 132249135 + Intron DEL CTC - - rs112244070 2011-2283:2012-316-T g.chr7:132249133_132249135delCTC uc003vra.3 - PLXNA4_uc003vrc.2_Intron|PLXNA4_uc003vrb.2_Intron NM_020911 NP_065962 ERICH1 157697 broad.mit.edu 37 8 625596 625596 + Intron DEL G - - 2011-2283:2012-316-T g.chr8:625596delG uc003wph.2 - ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron|ERICH1_uc003wpi.2_5'Flank NM_207332 NP_997215 FANCC 2176 broad.mit.edu 37 9 97997493 97997502 + Intron DEL GCACCCAAAG - - rs11278702;rs34429527 2011-2283:2012-316-T g.chr9:97997493_97997502delGCACCCAAAG uc004avh.2 - FANCC_uc004avi.3_Intron|FANCC_uc010mrm.1_Intron|FANCC_uc011lul.1_Intron NM_000136 NP_000127 FAM125B 89853 broad.mit.edu 37 9 129246803 129246805 + Intron DEL CTT - - rs35528692;rs35371157 2011-2283:2012-316-T g.chr9:129246803_129246805delCTT uc004bqh.1 + FAM125B_uc011lzy.1_Intron|FAM125B_uc010mxd.2_Intron NM_033446 NP_258257 TTF1 7270 broad.mit.edu 37 9 135253604 135253605 + Intron INS - GT GT rs146418873 by1000genomes 2011-2283:2012-316-T g.chr9:135253604_135253605insGT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 DHRSX 207063 broad.mit.edu 37 X 2300710 2300711 + Intron INS - CAC CAC 2011-2283:2012-316-T g.chrX:2300710_2300711insCAC uc004cqf.3 - NM_145177 NP_660160 OPHN1 4983 broad.mit.edu 37 X 67459062 67459062 + Intron DEL G - - rs67901004 2011-2283:2012-316-T g.chrX:67459062delG uc004dww.3 - OPHN1_uc011mpg.1_Intron|OPHN1_uc004dwx.2_Intron NM_002547 NP_002538 JAK1 3716 broad.mit.edu 37 1 65432744 65432744 + 5'Flank DEL A - - 2011-2284:2012-315-T g.chr1:65432744delA uc001dbu.1 - JAK1_uc009wam.1_5'Flank NM_002227 NP_002218 ODF3 113746 broad.mit.edu 37 11 194812 194812 + 5'Flank DEL C - - rs113267557 2011-2284:2012-315-T g.chr11:194812delC uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 SLC22A12 116085 broad.mit.edu 37 11 64363561 64363562 + Intron INS - ATGG ATGG rs146602952 2011-2284:2012-315-T g.chr11:64363561_64363562insATGG uc001oam.1 + SLC22A12_uc009ypr.1_Intron|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.2_Intron NM_144585 NP_653186 ST8SIA1 6489 broad.mit.edu 37 12 22473945 22473946 + Intron DEL AA - - 2011-2284:2012-315-T g.chr12:22473945_22473946delAA uc001rfo.3 - ST8SIA1_uc009zix.2_Intron NM_003034 NP_003025 ZNF554 115196 broad.mit.edu 37 19 2818004 2818005 + 5'Flank INS - C C 2011-2284:2012-315-T g.chr19:2818004_2818005insC uc002lwm.2 + ZNF554_uc002lwl.2_5'Flank NM_001102651 NP_001096121 ARHGEF1 9138 broad.mit.edu 37 19 42424637 42424640 + Intron DEL ACAC - - 2011-2284:2012-315-T g.chr19:42424637_42424640delACAC uc002osc.2 + KIR3DL1 3811 broad.mit.edu 37 19 55328084 55328084 + Intron DEL A - - rs142454309 2011-2284:2012-315-T g.chr19:55328084delA uc002qhk.3 + KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Intron|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_Intron|KIR3DL1_uc002qhl.3_Intron NM_013289 NP_037421 NLRP4 147945 broad.mit.edu 37 19 56365121 56365122 + Intron INS - TC TC rs113515986 2011-2284:2012-315-T g.chr19:56365121_56365122insTC uc002qmd.3 + NM_134444 NP_604393 TSSC1 7260 broad.mit.edu 37 2 3323746 3323747 + Intron INS - C C rs11428708;rs33952178 2011-2284:2012-315-T g.chr2:3323746_3323747insC uc002qxj.2 - TSSC1_uc002qxi.2_5'Flank NM_003310 NP_003301 CHEK2 11200 broad.mit.edu 37 22 29133463 29133464 + Intron DEL TT - - 2011-2284:2012-315-T g.chr22:29133463_29133464delTT uc003adu.1 - CHEK2_uc003ads.1_5'Flank|CHEK2_uc010gvh.1_5'Flank|CHEK2_uc010gvi.1_5'Flank|CHEK2_uc010gvj.1_5'Flank|CHEK2_uc003adr.1_5'Flank|CHEK2_uc010gvk.1_5'Flank|CHEK2_uc003adt.1_Intron|CHEK2_uc003adv.1_Intron|CHEK2_uc003adw.1_Intron|CHEK2_uc003adx.1_Intron|CHEK2_uc003ady.1_Intron|CHEK2_uc003adz.1_Intron NM_007194 NP_009125 ST3GAL3 6487 broad.mit.edu 37 1 44283358 44283360 + Intron DEL CTT - - 2011-2285:2012-326-T g.chr1:44283358_44283360delCTT uc001ckc.2 + ST3GAL3_uc009vwu.1_Intron|ST3GAL3_uc010okj.1_Intron|ST3GAL3_uc001cjz.2_Intron|ST3GAL3_uc001cka.2_Intron|ST3GAL3_uc001ckb.2_Intron|ST3GAL3_uc001ckd.2_Intron|ST3GAL3_uc001cke.2_Intron|ST3GAL3_uc001ckf.2_Intron|ST3GAL3_uc001ckg.2_Intron|ST3GAL3_uc001ckh.2_Intron|ST3GAL3_uc001cki.2_Intron|ST3GAL3_uc009vwv.2_Intron|ST3GAL3_uc001ckj.2_Intron|ST3GAL3_uc009vww.2_Intron|ST3GAL3_uc001ckk.2_Intron|ST3GAL3_uc009vwy.2_Intron|ST3GAL3_uc009vwx.2_Intron|ST3GAL3_uc001ckm.2_Intron|ST3GAL3_uc001ckl.2_Intron|ST3GAL3_uc009vwz.2_Intron|ST3GAL3_uc001ckn.2_Intron|ST3GAL3_uc001ckp.2_Intron|ST3GAL3_uc001cko.2_Intron|ST3GAL3_uc009vxa.2_Intron|ST3GAL3_uc001ckq.2_Intron|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Intron NM_006279 NP_006270 LGR6 59352 broad.mit.edu 37 1 202174137 202174138 + Intron INS - AC AC 2011-2285:2012-326-T g.chr1:202174137_202174138insAC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 KSR2 283455 broad.mit.edu 37 12 118210036 118210037 + Intron INS - AA AA 2011-2285:2012-326-T g.chr12:118210036_118210037insAA uc001two.2 - NM_173598 NP_775869 GAS6 2621 broad.mit.edu 37 13 114544862 114544863 + Intron DEL CA - - 2011-2285:2012-326-T g.chr13:114544862_114544863delCA uc001vud.2 - uc010tki.1_5'Flank NM_000820 NP_000811 ADAMTS17 170691 broad.mit.edu 37 15 100598546 100598547 + Intron INS - T T 2011-2285:2012-326-T g.chr15:100598546_100598547insT uc002bvv.1 - NM_139057 NP_620688 ARHGAP17 55114 broad.mit.edu 37 16 25029262 25029262 + 5'Flank DEL T - - rs79150258 2011-2285:2012-326-T g.chr16:25029262delT uc002dnb.2 - ARHGAP17_uc002dnc.2_5'Flank|ARHGAP17_uc010vcf.1_5'Flank|ARHGAP17_uc002dng.1_5'Flank NM_001006634 NP_001006635 NLRC5 84166 broad.mit.edu 37 16 57105571 57105572 + Intron INS - AGTA AGTA rs144570575 by1000genomes 2011-2285:2012-326-T g.chr16:57105571_57105572insAGTA uc002ekk.1 + NLRC5_uc010ccr.1_Intron|NLRC5_uc010ccs.1_Intron|NLRC5_uc002eko.1_Intron|NLRC5_uc002ekq.1_Intron|NLRC5_uc002ekr.1_Intron NM_032206 NP_115582 NXN 64359 broad.mit.edu 37 17 852116 852117 + Intron INS - C C 2011-2285:2012-326-T g.chr17:852116_852117insC uc002fsa.2 - NM_022463 NP_071908 KRT10 3858 broad.mit.edu 37 17 38978419 38978419 + Frame_Shift_Del DEL C - - 2011-2285:2012-326-T g.chr17:38978419delC uc002hvi.2 - 1 445 c.419delG c.(418-420)GGCfs p.G140fs KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron NM_000421 NP_000412 JUP 3728 broad.mit.edu 37 17 39755251 39755253 + Intron DEL TGG - - 2011-2285:2012-326-T g.chr17:39755251_39755253delTGG uc010wfs.1 - NM_021991 NP_068831 SLC16A3 9123 broad.mit.edu 37 17 80185559 80185561 + 5'Flank DEL AGC - - rs34021482 2011-2285:2012-326-T g.chr17:80185559_80185561delAGC uc002kea.2 + SLC16A3_uc002keb.2_5'Flank NM_001042422 NP_001035887 NFATC1 4772 broad.mit.edu 37 18 77187574 77187574 + Intron DEL G - - 2011-2285:2012-326-T g.chr18:77187574delG uc010xfg.1 + NFATC1_uc002lnc.1_Intron|NFATC1_uc010xff.1_Intron|NFATC1_uc002lnd.2_Intron|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfi.1_Intron|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Intron|NFATC1_uc002lng.2_Intron|NFATC1_uc010xfk.1_Intron NM_006162 NP_006153 INSR 3643 broad.mit.edu 37 19 7153369 7153369 + Intron DEL C - - 2011-2285:2012-326-T g.chr19:7153369delC uc002mgd.1 - INSR_uc002mge.1_Intron|INSR_uc002mgf.2_Intron NM_000208 NP_000199 TSSC1 7260 broad.mit.edu 37 2 3298684 3298685 + Intron INS - CA CA rs149607117;rs34509649 by1000genomes 2011-2285:2012-326-T g.chr2:3298684_3298685insCA uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 C20orf26 26074 broad.mit.edu 37 20 20336759 20336760 + Intron INS - TG TG 2011-2285:2012-326-T g.chr20:20336759_20336760insTG uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 DSCAM 1826 broad.mit.edu 37 21 42058276 42058277 + Intron DEL CA - - 2011-2285:2012-326-T g.chr21:42058276_42058277delCA uc002yyq.1 - DSCAM_uc002yyr.1_Intron NM_001389 NP_001380 SORCS2 57537 broad.mit.edu 37 4 7726402 7726404 + Intron DEL GTA - - 2011-2285:2012-326-T g.chr4:7726402_7726404delGTA uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 ELMO1 9844 broad.mit.edu 37 7 37487241 37487241 + Intron DEL A - - rs148859083 by1000genomes 2011-2285:2012-326-T g.chr7:37487241delA uc003tfk.1 - ELMO1_uc010kxg.1_Intron NM_014800 NP_055615 PTPRN2 5799 broad.mit.edu 37 7 157569221 157569222 + Intron INS - C C 2011-2285:2012-326-T g.chr7:157569221_157569222insC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157569223 157569224 + Intron INS - CC CC 2011-2285:2012-326-T g.chr7:157569223_157569224insCC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 TTF1 7270 broad.mit.edu 37 9 135252932 135252933 + Intron DEL GT - - 2011-2285:2012-326-T g.chr9:135252932_135252933delGT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 CSF2RA 1438 broad.mit.edu 37 X 1386086 1386087 + 5'Flank DEL GT - - 2011-2285:2012-326-T g.chrX:1386086_1386087delGT uc010nct.2 + CSF2RA_uc011mhb.1_5'Flank|CSF2RA_uc004cpq.2_5'Flank|CSF2RA_uc004cpn.2_5'Flank|CSF2RA_uc004cpo.2_5'Flank|CSF2RA_uc010ncu.2_5'Flank|CSF2RA_uc011mhc.1_5'Flank|CSF2RA_uc004cpp.2_5'Flank NM_001161529 NP_001155001 MORN1 79906 broad.mit.edu 37 1 2263371 2263372 + Intron INS - G G 2011-2286:2012-1321-T g.chr1:2263371_2263372insG uc001ajb.1 - NM_024848 NP_079124 MORN1 79906 broad.mit.edu 37 1 2263374 2263375 + Intron INS - C C 2011-2286:2012-1321-T g.chr1:2263374_2263375insC uc001ajb.1 - NM_024848 NP_079124 P2RY2 5029 broad.mit.edu 37 11 72938392 72938393 + Intron DEL TG - - 2011-2286:2012-1321-T g.chr11:72938392_72938393delTG uc001otj.2 + P2RY2_uc001otk.2_Intron|P2RY2_uc001otl.2_Intron NM_002564 NP_002555 GRK1 6011 broad.mit.edu 37 13 114436864 114436865 + Intron DEL GT - - 2011-2286:2012-1321-T g.chr13:114436864_114436865delGT uc010tkf.1 + NM_002929 NP_002920 LMF1 64788 broad.mit.edu 37 16 908637 908637 + Intron DEL C - - 2011-2286:2012-1321-T g.chr16:908637delC uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 TPSD1 23430 broad.mit.edu 37 16 1305069 1305069 + 5'Flank DEL G - - 2011-2286:2012-1321-T g.chr16:1305069delG uc002clb.1 + TPSD1_uc010brm.1_5'Flank NM_012217 NP_036349 TIMM22 29928 broad.mit.edu 37 17 897468 897468 + 5'Flank DEL C - - 2011-2286:2012-1321-T g.chr17:897468delC uc002fsc.2 + NM_013337 NP_037469 TIMM22 29928 broad.mit.edu 37 17 897498 897498 + 5'Flank DEL C - - 2011-2286:2012-1321-T g.chr17:897498delC uc002fsc.2 + NM_013337 NP_037469 ABR 29 broad.mit.edu 37 17 1021191 1021192 + Intron INS - C C 2011-2286:2012-1321-T g.chr17:1021191_1021192insC uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 RPTOR 57521 broad.mit.edu 37 17 78904248 78904248 + Intron DEL T - - rs66536164 2011-2286:2012-1321-T g.chr17:78904248delT uc002jyt.1 + RPTOR_uc010wug.1_Intron NM_020761 NP_065812 C19orf50 79036 broad.mit.edu 37 19 18670711 18670712 + Intron DEL TC - - 2011-2286:2012-1321-T g.chr19:18670711_18670712delTC uc002njo.2 + C19orf50_uc002njp.2_RNA|C19orf50_uc002njq.2_5'Flank NM_024069 NP_076974 RMND5A 64795 broad.mit.edu 37 2 87623883 87623883 + Intron DEL A - - 2011-2286:2012-1321-T g.chr2:87623883delA uc002srs.3 + RANBP1 5902 broad.mit.edu 37 22 20110474 20110475 + Intron DEL GT - - 2011-2286:2012-1321-T g.chr22:20110474_20110475delGT uc002zro.1 + RANBP1_uc011ahl.1_Intron|RANBP1_uc002zrp.2_Intron NM_002882 NP_002873 SENP5 205564 broad.mit.edu 37 3 196625703 196625703 + Intron DEL A - - 2011-2286:2012-1321-T g.chr3:196625703delA uc003fwz.3 + SENP5_uc011bty.1_Intron NM_152699 NP_689912 AHRR 57491 broad.mit.edu 37 5 345528 345529 + Intron DEL TG - - 2011-2286:2012-1321-T g.chr5:345528_345529delTG uc003jav.2 + AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Intron NM_020731 NP_065782 CEP72 55722 broad.mit.edu 37 5 650334 650335 + Intron DEL TG - - 2011-2286:2012-1321-T g.chr5:650334_650335delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 651175 651175 + Intron DEL G - - 2011-2286:2012-1321-T g.chr5:651175delG uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1072559 1072560 + Intron INS - A A 2011-2286:2012-1321-T g.chr5:1072559_1072560insA uc003jbu.2 - NM_006598 NP_006589 THBS2 7058 broad.mit.edu 37 6 169642909 169642909 + Intron DEL C - - 2011-2286:2012-1321-T g.chr6:169642909delC uc003qwt.2 - NM_003247 NP_003238 AUTS2 26053 broad.mit.edu 37 7 69960660 69960660 + Intron DEL A - - 2011-2286:2012-1321-T g.chr7:69960660delA uc003tvw.3 + AUTS2_uc003tvx.3_Intron NM_015570 NP_056385 ZNF804B 219578 broad.mit.edu 37 7 88388312 88388312 + 5'Flank DEL T - - 2011-2286:2012-1321-T g.chr7:88388312delT uc011khi.1 + NM_181646 NP_857597 PTPRN2 5799 broad.mit.edu 37 7 157981026 157981027 + Intron INS - T T rs11376534;rs33977963 2011-2286:2012-1321-T g.chr7:157981026_157981027insT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 HEATR7A 727957 broad.mit.edu 37 8 145288395 145288395 + Intron DEL C - - 2011-2286:2012-1321-T g.chr8:145288395delC uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 TRAF2 7186 broad.mit.edu 37 9 139817336 139817337 + Intron DEL GA - - 2011-2286:2012-1321-T g.chr9:139817336_139817337delGA uc010nbu.2 + TRAF2_uc004cjv.2_Intron|TRAF2_uc011mek.1_Intron|TRAF2_uc010nbw.2_Intron NM_021138 NP_066961 EHMT1 79813 broad.mit.edu 37 9 140610825 140610826 + Intron INS - G G 2011-2286:2012-1321-T g.chr9:140610825_140610826insG uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 DHRSX 207063 broad.mit.edu 37 X 2300710 2300711 + Intron INS - CAC CAC 2011-2286:2012-1321-T g.chrX:2300710_2300711insCAC uc004cqf.3 - NM_145177 NP_660160 DHRS3 9249 broad.mit.edu 37 1 12645080 12645081 + Intron DEL TG - - 2011-2288:2012-1331-T g.chr1:12645080_12645081delTG uc001auc.2 - DHRS3_uc001aub.2_Intron|DHRS3_uc009vnm.2_Intron|DHRS3_uc001aud.3_Intron|DHRS3_uc001aue.1_Intron NM_004753 NP_004744 HHAT 55733 broad.mit.edu 37 1 210639505 210639506 + Intron INS - GAAT GAAT 2011-2288:2012-1331-T g.chr1:210639505_210639506insGAAT uc009xcx.2 + HHAT_uc010psq.1_Intron|HHAT_uc001hhz.3_Intron|HHAT_uc010psr.1_Intron|HHAT_uc010pss.1_Intron|HHAT_uc009xcy.2_Intron|HHAT_uc010pst.1_Intron|HHAT_uc010psu.1_Intron|HHAT_uc001hia.3_Intron NM_001122834 NP_001116306 TIMM22 29928 broad.mit.edu 37 17 897516 897519 + 5'Flank DEL ACAT - - rs144033044;rs77497403 2011-2288:2012-1331-T g.chr17:897516_897519delACAT uc002fsc.2 + NM_013337 NP_037469 TIMM22 29928 broad.mit.edu 37 17 897531 897532 + 5'Flank INS - C C 2011-2288:2012-1331-T g.chr17:897531_897532insC uc002fsc.2 + NM_013337 NP_037469 TP53 7157 broad.mit.edu 37 17 7578507 7578518 + In_Frame_Del DEL GCAGGTCTTGGC - - rs137852794;rs28934875 2011-2288:2012-1331-T g.chr17:7578507_7578518delGCAGGTCTTGGC uc002gim.2 - 5 606_617 c.412_423delGCCAAGACCTGC c.(412-423)GCCAAGACCTGCdel p.AKTC138del TP53_uc002gig.1_In_Frame_Del_p.AKTC138del|TP53_uc002gih.2_In_Frame_Del_p.AKTC138del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.AKTC6del|TP53_uc010cng.1_In_Frame_Del_p.AKTC6del|TP53_uc002gii.1_In_Frame_Del_p.AKTC6del|TP53_uc010cnh.1_In_Frame_Del_p.AKTC138del|TP53_uc010cni.1_In_Frame_Del_p.AKTC138del|TP53_uc002gij.2_In_Frame_Del_p.AKTC138del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.AKTC45del|TP53_uc002gio.2_In_Frame_Del_p.AKTC6del|TP53_uc010vug.1_In_Frame_Del_p.AKTC99del NM_001126112 NP_001119584 SNTG2 54221 broad.mit.edu 37 2 1285200 1285202 + Intron DEL GTG - - 2011-2288:2012-1331-T g.chr2:1285200_1285202delGTG uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 HDAC4 9759 broad.mit.edu 37 2 240268457 240268458 + Intron INS - A A 2011-2288:2012-1331-T g.chr2:240268457_240268458insA uc002vyk.3 - HDAC4_uc010fza.2_Intron NM_006037 NP_006028 HDAC4 9759 broad.mit.edu 37 2 240268476 240268477 + Intron DEL AT - - 2011-2288:2012-1331-T g.chr2:240268476_240268477delAT uc002vyk.3 - HDAC4_uc010fza.2_Intron NM_006037 NP_006028 BMP7 655 broad.mit.edu 37 20 55794237 55794240 + Intron DEL TGTT - - 2011-2288:2012-1331-T g.chr20:55794237_55794240delTGTT uc010gip.1 - BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Intron NM_001719 NP_001710 FGFR4 2264 broad.mit.edu 37 5 176523877 176523879 + Intron DEL TCC - - 2011-2288:2012-1331-T g.chr5:176523877_176523879delTCC uc003mfl.2 + FGFR4_uc003mfm.2_Intron|FGFR4_uc011dfu.1_Intron|FGFR4_uc003mfo.2_Intron NM_002011 NP_002002 ADAP1 11033 broad.mit.edu 37 7 945930 945931 + Intron INS - A A 2011-2288:2012-1331-T g.chr7:945930_945931insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ARHGEF10 9639 broad.mit.edu 37 8 1781190 1781193 + Intron DEL AGAC - - 2011-2288:2012-1331-T g.chr8:1781190_1781193delAGAC uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 ARHGEF10 9639 broad.mit.edu 37 8 1781198 1781199 + Intron DEL AG - - 2011-2288:2012-1331-T g.chr8:1781198_1781199delAG uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 TOP1MT 116447 broad.mit.edu 37 8 144404915 144404915 + Intron DEL A - - 2011-2288:2012-1331-T g.chr8:144404915delA uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 ZC3H3 23144 broad.mit.edu 37 8 144575053 144575054 + Intron INS - C C 2011-2288:2012-1331-T g.chr8:144575053_144575054insC uc003yyd.2 - NM_015117 NP_055932 LGR6 59352 broad.mit.edu 37 1 202174656 202174657 + Intron DEL CA - - 2011-2289:2012-1332-T g.chr1:202174656_202174657delCA uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 GTPBP4 23560 broad.mit.edu 37 10 1061583 1061584 + Intron DEL GC - - 2011-2289:2012-1332-T g.chr10:1061583_1061584delGC uc001ift.2 + GTPBP4_uc001ifu.2_Intron|GTPBP4_uc010qad.1_Intron|GTPBP4_uc010qae.1_Intron NM_012341 NP_036473 KNDC1 85442 broad.mit.edu 37 10 135037144 135037145 + Intron DEL TC - - 2011-2289:2012-1332-T g.chr10:135037144_135037145delTC uc001llz.1 + NM_152643 NP_689856 KNDC1 85442 broad.mit.edu 37 10 135037439 135037440 + Intron DEL GT - - 2011-2289:2012-1332-T g.chr10:135037439_135037440delGT uc001llz.1 + NM_152643 NP_689856 KSR2 283455 broad.mit.edu 37 12 118232179 118232180 + Intron DEL CT - - rs145084103 2011-2289:2012-1332-T g.chr12:118232179_118232180delCT uc001two.2 - NM_173598 NP_775869 CCDC135 84229 broad.mit.edu 37 16 57739718 57739725 + Intron DEL TTCTCCTC - - rs138801901 by1000genomes 2011-2289:2012-1332-T g.chr16:57739718_57739725delTTCTCCTC uc002emi.2 + CCDC135_uc002emj.2_Intron|CCDC135_uc002emk.2_Intron NM_032269 NP_115645 BRCA1 672 broad.mit.edu 37 17 41219854 41219854 + Intron DEL T - - 2011-2289:2012-1332-T g.chr17:41219854delT uc002icq.2 - BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Intron|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Intron|BRCA1_uc002ict.2_Intron|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron NM_007294 NP_009225 SBNO2 22904 broad.mit.edu 37 19 1166044 1166045 + Intron INS - C C rs114658484 2011-2289:2012-1332-T g.chr19:1166044_1166045insC uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 KIF1A 547 broad.mit.edu 37 2 241720868 241720869 + Intron INS - GCTC GCTC rs138545527 by1000genomes 2011-2289:2012-1332-T g.chr2:241720868_241720869insGCTC uc002vzy.2 - KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron NM_004321 NP_004312 ZBTB46 140685 broad.mit.edu 37 20 62439418 62439419 + 5'Flank DEL GG - - rs10577517 2011-2289:2012-1332-T g.chr20:62439418_62439419delGG uc002ygv.1 - ZBTB46_uc002ygu.2_Intron|uc002ygw.2_5'Flank NM_025224 NP_079500 SLC12A7 10723 broad.mit.edu 37 5 1082756 1082756 + Intron DEL C - - 2011-2289:2012-1332-T g.chr5:1082756delC uc003jbu.2 - NM_006598 NP_006589 UNC5A 90249 broad.mit.edu 37 5 176257398 176257399 + Intron DEL GT - - 2011-2289:2012-1332-T g.chr5:176257398_176257399delGT uc003mey.2 + UNC5A_uc003mex.1_Intron NM_133369 NP_588610 WBSCR17 64409 broad.mit.edu 37 7 71036056 71036057 + Intron INS - C C 2011-2289:2012-1332-T g.chr7:71036056_71036057insC uc003tvy.2 + WBSCR17_uc003tvz.2_Intron NM_022479 NP_071924 MAGI2 9863 broad.mit.edu 37 7 78031652 78031653 + Intron DEL TG - - 2011-2289:2012-1332-T g.chr7:78031652_78031653delTG uc003ugx.2 - MAGI2_uc003ugy.2_Intron|MAGI2_uc010ldx.1_Intron|MAGI2_uc010ldy.1_Intron|MAGI2_uc011kgr.1_Intron|MAGI2_uc011kgs.1_Intron NM_012301 NP_036433 PTPRN2 5799 broad.mit.edu 37 7 157524734 157524735 + Intron INS - C C rs66827470 2011-2289:2012-1332-T g.chr7:157524734_157524735insC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 CAMTA1 23261 broad.mit.edu 37 1 7715209 7715210 + Intron INS - AC AC 2011-2290:2012-1322-T g.chr1:7715209_7715210insAC uc001aoi.2 + NM_015215 NP_056030 CAMTA1 23261 broad.mit.edu 37 1 7715244 7715247 + Intron DEL ACAA - - 2011-2290:2012-1322-T g.chr1:7715244_7715247delACAA uc001aoi.2 + NM_015215 NP_056030 LGR6 59352 broad.mit.edu 37 1 202173341 202173342 + Intron INS - CA CA rs111964081;rs72231492 2011-2290:2012-1322-T g.chr1:202173341_202173342insCA uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 USH2A 7399 broad.mit.edu 37 1 215814143 215814143 + Intron DEL A - - 2011-2290:2012-1322-T g.chr1:215814143delA uc001hku.1 - NM_206933 NP_996816 ODF3 113746 broad.mit.edu 37 11 194812 194812 + 5'Flank DEL C - - rs113267557 2011-2290:2012-1322-T g.chr11:194812delC uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 C11orf16 56673 broad.mit.edu 37 11 8947732 8947732 + Intron DEL C - - rs147920860 2011-2290:2012-1322-T g.chr11:8947732delC uc001mhb.3 - C11orf16_uc001mhc.3_Intron NM_020643 NP_065694 DCLK1 9201 broad.mit.edu 37 13 36532435 36532443 + Intron DEL TATAATAAA - - 2011-2290:2012-1322-T g.chr13:36532435_36532443delTATAATAAA uc001uvf.2 - NM_004734 NP_004725 NTRK3 4916 broad.mit.edu 37 15 88670279 88670279 + Intron DEL T - - 2011-2290:2012-1322-T g.chr15:88670279delT uc002bme.1 - NTRK3_uc002bmh.2_Intron|NTRK3_uc002bmf.1_Intron|NTRK3_uc010upl.1_Intron|NTRK3_uc010bnh.1_Intron|NTRK3_uc002bmg.2_Intron NM_001012338 NP_001012338 KLHDC4 54758 broad.mit.edu 37 16 87772470 87772471 + Intron INS - CATC CATC rs71667828 2011-2290:2012-1322-T g.chr16:87772470_87772471insCATC uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 KCNG2 26251 broad.mit.edu 37 18 77625473 77625474 + Intron INS - G G 2011-2290:2012-1322-T g.chr18:77625473_77625474insG uc010xfl.1 + NM_012283 NP_036415 PALM 5064 broad.mit.edu 37 19 735409 735409 + Intron DEL T - - 2011-2290:2012-1322-T g.chr19:735409delT uc002lpm.1 + PALM_uc002lpn.1_Intron|PALM_uc010xfu.1_Intron NM_002579 NP_002570 CPSF3 51692 broad.mit.edu 37 2 9606326 9606327 + Intron DEL CA - - 2011-2290:2012-1322-T g.chr2:9606326_9606327delCA uc002qzo.1 + CPSF3_uc002qzp.1_Intron|CPSF3_uc002qzq.1_Intron NM_016207 NP_057291 RMND5A 64795 broad.mit.edu 37 2 87633950 87633950 + Intron DEL C - - 2011-2290:2012-1322-T g.chr2:87633950delC uc002srs.3 + MAP2 4133 broad.mit.edu 37 2 210288885 210288885 + 5'UTR DEL C - - rs113563544 2011-2290:2012-1322-T g.chr2:210288885delC uc002vdc.1 + 1 MAP2_uc002vdd.1_5'UTR NM_002374 NP_002365 CACNA2D3 55799 broad.mit.edu 37 3 54751700 54751701 + Intron DEL GT - - 2011-2290:2012-1322-T g.chr3:54751700_54751701delGT uc003dhf.2 + CACNA2D3_uc011beu.1_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron|CACNA2D3_uc010hmv.1_Intron NM_018398 NP_060868 MUC4 4585 broad.mit.edu 37 3 195494432 195494434 + Intron DEL TTG - - 2011-2290:2012-1322-T g.chr3:195494432_195494434delTTG uc011bto.1 - MUC4_uc003fuz.2_Intron|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Intron|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 TFRC 7037 broad.mit.edu 37 3 195778729 195778730 + 3'UTR INS - C C 2011-2290:2012-1322-T g.chr3:195778729_195778730insC uc003fvz.3 - 19 TFRC_uc003fwa.3_3'UTR|TFRC_uc010hzy.2_3'UTR|TFRC_uc011btr.1_3'UTR NM_003234 NP_003225 GAK 2580 broad.mit.edu 37 4 907700 907701 + Intron DEL CA - - 2011-2290:2012-1322-T g.chr4:907700_907701delCA uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_Intron|GAK_uc003gbl.3_5'Flank NM_005255 NP_005246 SORCS2 57537 broad.mit.edu 37 4 7455278 7455279 + Intron DEL TG - - 2011-2290:2012-1322-T g.chr4:7455278_7455279delTG uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 CEP72 55722 broad.mit.edu 37 5 648652 648653 + Intron INS - G G rs71781429 2011-2290:2012-1322-T g.chr5:648652_648653insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650066 650067 + Intron INS - G G 2011-2290:2012-1322-T g.chr5:650066_650067insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650178 650179 + Intron DEL TG - - 2011-2290:2012-1322-T g.chr5:650178_650179delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650334 650335 + Intron DEL TG - - 2011-2290:2012-1322-T g.chr5:650334_650335delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650411 650412 + Intron INS - G G 2011-2290:2012-1322-T g.chr5:650411_650412insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650428 650429 + Intron DEL TG - - 2011-2290:2012-1322-T g.chr5:650428_650429delTG uc003jbf.2 + NM_018140 NP_060610 HLA-G 3135 broad.mit.edu 37 6 29972816 29972819 + Intron DEL TTCA - - rs36122474 2011-2290:2012-1322-T g.chr6:29972816_29972819delTTCA uc011dmb.1 + NCRNA00171_uc011dme.1_Intron|HLA-J_uc003nou.3_5'Flank|HLA-J_uc003rtl.3_5'Flank|HLA-J_uc003nov.3_5'Flank NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29975193 29975194 + Intron DEL AT - - 2011-2290:2012-1322-T g.chr6:29975193_29975194delAT uc011dmb.1 + NCRNA00171_uc011dme.1_Intron|HLA-J_uc003nou.3_Intron|HLA-J_uc003rtl.3_Intron|HLA-J_uc003nov.3_Intron NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29975197 29975199 + Intron DEL CCC - - 2011-2290:2012-1322-T g.chr6:29975197_29975199delCCC uc011dmb.1 + NCRNA00171_uc011dme.1_Intron|HLA-J_uc003nou.3_Intron|HLA-J_uc003rtl.3_Intron|HLA-J_uc003nov.3_Intron NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29975201 29975203 + Intron DEL GAA - - 2011-2290:2012-1322-T g.chr6:29975201_29975203delGAA uc011dmb.1 + NCRNA00171_uc011dme.1_Intron|HLA-J_uc003nou.3_Intron|HLA-J_uc003rtl.3_Intron|HLA-J_uc003nov.3_Intron NM_002127 NP_002118 HLA-C 3107 broad.mit.edu 37 6 31239151 31239151 + Intron DEL A - - rs67420880 2011-2290:2012-1322-T g.chr6:31239151delA uc003nsy.2 - HLA-C_uc011dnj.1_Intron|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Intron|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Intron|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Intron|HLA-B_uc003ntf.2_Intron NM_002117 NP_002108 SMOC2 64094 broad.mit.edu 37 6 169016399 169016400 + Intron DEL GG - - 2011-2290:2012-1322-T g.chr6:169016399_169016400delGG uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 PTPRN2 5799 broad.mit.edu 37 7 158317179 158317180 + Intron INS - GTC GTC rs10641395;rs35653944 2011-2290:2012-1322-T g.chr7:158317179_158317180insGTC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 MORN1 79906 broad.mit.edu 37 1 2263403 2263404 + Intron INS - G G 2011-2292:2012-324-T g.chr1:2263403_2263404insG uc001ajb.1 - NM_024848 NP_079124 MORN1 79906 broad.mit.edu 37 1 2263406 2263407 + Intron INS - C C 2011-2292:2012-324-T g.chr1:2263406_2263407insC uc001ajb.1 - NM_024848 NP_079124 NOTCH2 4853 broad.mit.edu 37 1 120548005 120548006 + Frame_Shift_Ins INS - A A 2011-2292:2012-324-T g.chr1:120548005_120548006insA uc001eik.2 - 3 617_618 c.361_362insT c.(361-363)TGCfs p.C121fs NOTCH2_uc001eil.2_Frame_Shift_Ins_p.C121fs|NOTCH2_uc001eim.3_Frame_Shift_Ins_p.C38fs NM_024408 NP_077719 FAM5B 57795 broad.mit.edu 37 1 177242773 177242774 + Intron INS - A A 2011-2292:2012-324-T g.chr1:177242773_177242774insA uc001glf.2 + FAM5B_uc010pna.1_Intron|FAM5B_uc001glg.2_Intron NM_021165 NP_066988 C1orf125 126859 broad.mit.edu 37 1 179461969 179461969 + Intron DEL T - - 2011-2292:2012-324-T g.chr1:179461969delT uc001gmo.2 + C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_Intron NM_144696 NP_653297 MLL2 8085 broad.mit.edu 37 12 49435469 49435470 + Frame_Shift_Del DEL CG - - 2011-2292:2012-324-T g.chr12:49435469_49435470delCG uc001rta.3 - 30 6202_6203 c.6202_6203delCG c.(6202-6204)CGGfs p.R2068fs NM_003482 NP_003473 RAB11FIP3 9727 broad.mit.edu 37 16 554202 554202 + Intron DEL C - - 2011-2292:2012-324-T g.chr16:554202delC uc002chf.2 + RAB11FIP3_uc010uuf.1_Intron|RAB11FIP3_uc010uug.1_Intron NM_014700 NP_055515 SLC38A10 124565 broad.mit.edu 37 17 79223306 79223308 + Intron DEL GGA - - 2011-2292:2012-324-T g.chr17:79223306_79223308delGGA uc002jzz.1 - SLC38A10_uc002jzy.1_Intron NM_001037984 NP_001033073 CSNK1D 1453 broad.mit.edu 37 17 80212158 80212161 + Intron DEL GTGC - - 2011-2292:2012-324-T g.chr17:80212158_80212161delGTGC uc002kej.2 - SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Intron|CSNK1D_uc002kei.2_Intron|CSNK1D_uc010wvj.1_Intron|CSNK1D_uc010dil.2_5'Flank|CSNK1D_uc002keh.2_5'UTR|CSNK1D_uc010dim.1_5'Flank NM_001893 NP_001884 REL 5966 broad.mit.edu 37 2 61118799 61118800 + Intron INS - T T 2011-2292:2012-324-T g.chr2:61118799_61118800insT uc002sam.1 + REL_uc002san.1_Intron NM_002908 NP_002899 NFE2L2 4780 broad.mit.edu 37 2 178214734 178214735 + Intron DEL GT - - 2011-2292:2012-324-T g.chr2:178214734_178214735delGT uc002uli.3 - LOC100130691_uc002ulk.1_Intron NM_001145412 NP_001138884 NFE2L2 4780 broad.mit.edu 37 2 178214765 178214766 + Intron DEL GT - - 2011-2292:2012-324-T g.chr2:178214765_178214766delGT uc002uli.3 - LOC100130691_uc002ulk.1_Intron NM_001145412 NP_001138884 FOXP1 27086 broad.mit.edu 37 3 71101683 71101683 + Intron DEL G - - 2011-2292:2012-324-T g.chr3:71101683delG uc003dol.2 - FOXP1_uc003dom.2_Intron|FOXP1_uc003don.2_Intron|FOXP1_uc003doo.2_Intron|FOXP1_uc003dop.2_Intron|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Intron|FOXP1_uc003doj.2_Intron|FOXP1_uc003dok.2_Intron NM_032682 NP_116071 WWC1 23286 broad.mit.edu 37 5 167766913 167766914 + Intron DEL TC - - rs10593765 2011-2292:2012-324-T g.chr5:167766913_167766914delTC uc003lzu.2 + WWC1_uc003lzv.2_Intron|WWC1_uc011den.1_Intron NM_015238 NP_056053 NSD1 64324 broad.mit.edu 37 5 176696690 176696691 + Frame_Shift_Ins INS - T T 2011-2292:2012-324-T g.chr5:176696690_176696691insT uc003mfr.3 + 16 5529_5530 c.5391_5392insT c.(5389-5394)CTCTTTfs p.L1797fs NSD1_uc003mft.3_Frame_Shift_Ins_p.L1528fs|NSD1_uc003mfs.1_Frame_Shift_Ins_p.L1694fs|NSD1_uc011dfx.1_Frame_Shift_Ins_p.L1445fs NM_022455 NP_071900 ADAP1 11033 broad.mit.edu 37 7 945326 945326 + Intron DEL A - - 2011-2292:2012-324-T g.chr7:945326delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 946198 946199 + Intron INS - A A rs56051349 2011-2292:2012-324-T g.chr7:946198_946199insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 DTX2 113878 broad.mit.edu 37 7 76116164 76116166 + Intron DEL GCT - - rs57887395;rs79153110 by1000genomes 2011-2292:2012-324-T g.chr7:76116164_76116166delGCT uc003uff.3 + DTX2_uc011kgk.1_Intron|DTX2_uc003ufg.3_Intron|DTX2_uc003ufh.3_Intron|DTX2_uc003ufj.3_Intron NM_020892 NP_065943 PTPRN2 5799 broad.mit.edu 37 7 158112900 158112901 + Intron DEL CA - - 2011-2292:2012-324-T g.chr7:158112900_158112901delCA uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158278091 158278092 + Intron DEL CT - - rs5888758 2011-2292:2012-324-T g.chr7:158278091_158278092delCT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 TACC1 6867 broad.mit.edu 37 8 38626947 38626947 + Intron DEL G - - 2011-2292:2012-324-T g.chr8:38626947delG uc011lbz.1 + TACC1_uc011lby.1_Intron|TACC1_uc003xma.2_Intron|TACC1_uc003xlz.2_Intron|TACC1_uc003xmc.3_Intron|TACC1_uc003xmb.3_Intron|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron NM_006283 NP_006274 TSNARE1 203062 broad.mit.edu 37 8 143366603 143366604 + Intron INS - GGTG GGTG 2011-2292:2012-324-T g.chr8:143366603_143366604insGGTG uc003ywk.2 - TSNARE1_uc011lju.1_Intron|TSNARE1_uc003ywj.2_Intron|TSNARE1_uc003ywl.3_Intron NM_145003 NP_659440 TTF1 7270 broad.mit.edu 37 9 135252875 135252878 + Intron DEL GTGT - - 2011-2292:2012-324-T g.chr9:135252875_135252878delGTGT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 TTF1 7270 broad.mit.edu 37 9 135252971 135252971 + Intron DEL T - - 2011-2292:2012-324-T g.chr9:135252971delT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 KCNT1 57582 broad.mit.edu 37 9 138659896 138659897 + Intron DEL AG - - 2011-2292:2012-324-T g.chr9:138659896_138659897delAG uc011mdq.1 + KCNT1_uc011mdr.1_Intron|KCNT1_uc010nbf.2_Intron|KCNT1_uc004cgo.1_Intron NM_020822 NP_065873 SHOX 6473 broad.mit.edu 37 X 583098 583099 + 5'Flank DEL AG - - 2011-2292:2012-324-T g.chrX:583098_583099delAG uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 HIVEP3 59269 broad.mit.edu 37 1 42354705 42354706 + Intron DEL AC - - 2011-2293:2012-1333-T g.chr1:42354705_42354706delAC uc001cgz.3 - HIVEP3_uc001cha.3_Intron|HIVEP3_uc001chb.1_Intron NM_024503 NP_078779 DDR2 4921 broad.mit.edu 37 1 162688756 162688757 + Intron INS - TT TT 2011-2293:2012-1333-T g.chr1:162688756_162688757insTT uc001gcf.2 + DDR2_uc001gcg.2_Intron NM_001014796 NP_001014796 GPR123 84435 broad.mit.edu 37 10 134893164 134893165 + Intron INS - GTGT GTGT rs112176440 2011-2293:2012-1333-T g.chr10:134893164_134893165insGTGT uc001llw.2 + BRSK2 9024 broad.mit.edu 37 11 1430007 1430007 + Intron DEL G - - rs59441591 2011-2293:2012-1333-T g.chr11:1430007delG uc001lti.2 + BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001ltj.2_Intron|BRSK2_uc001ltk.2_Intron|BRSK2_uc001ltl.2_Intron|BRSK2_uc001ltm.2_5'Flank NM_003957 NP_003948 BRSK2 9024 broad.mit.edu 37 11 1430009 1430013 + Intron DEL TTGGC - - rs149317444;rs112616926;rs56958929;rs144527251 by1000genomes 2011-2293:2012-1333-T g.chr11:1430009_1430013delTTGGC uc001lti.2 + BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001ltj.2_Intron|BRSK2_uc001ltk.2_Intron|BRSK2_uc001ltl.2_Intron|BRSK2_uc001ltm.2_5'Flank NM_003957 NP_003948 PXMP2 5827 broad.mit.edu 37 12 133270293 133270293 + Intron DEL A - - 2011-2293:2012-1333-T g.chr12:133270293delA uc001ukt.2 + PGAM5_uc010tbr.1_Intron NM_018663 NP_061133 COL4A2 1284 broad.mit.edu 37 13 111134267 111134268 + Intron INS - T T rs138178512;rs67199340 2011-2293:2012-1333-T g.chr13:111134267_111134268insT uc001vqx.2 + NM_001846 NP_001837 INO80 54617 broad.mit.edu 37 15 41279934 41279934 + Intron DEL A - - rs76311249 2011-2293:2012-1333-T g.chr15:41279934delA uc001zni.2 - INO80_uc010ucu.1_Intron NM_017553 NP_060023 ABR 29 broad.mit.edu 37 17 1020789 1020790 + Intron INS - C C 2011-2293:2012-1333-T g.chr17:1020789_1020790insC uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 DHRS7C 201140 broad.mit.edu 37 17 9695706 9695707 + 5'Flank DEL GT - - 2011-2293:2012-1333-T g.chr17:9695706_9695707delGT uc010vvb.1 - DHRS7C_uc010cof.2_5'Flank NM_001105571 NP_001099041 INSR 3643 broad.mit.edu 37 19 7197661 7197662 + Intron DEL GT - - 2011-2293:2012-1333-T g.chr19:7197661_7197662delGT uc002mgd.1 - INSR_uc002mge.1_Intron|INSR_uc002mgf.2_Intron NM_000208 NP_000199 TSSC1 7260 broad.mit.edu 37 2 3203521 3203522 + Intron DEL GT - - rs5828969 2011-2293:2012-1333-T g.chr2:3203521_3203522delGT uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 AGPAT3 56894 broad.mit.edu 37 21 45379114 45379115 + Intron DEL GT - - 2011-2293:2012-1333-T g.chr21:45379114_45379115delGT uc002zdv.2 + AGPAT3_uc002zdw.2_Intron|AGPAT3_uc002zdx.2_Intron|AGPAT3_uc002zdy.2_5'Flank NM_020132 NP_064517 C22orf9 23313 broad.mit.edu 37 22 45624974 45624977 + Intron DEL CAAA - - 2011-2293:2012-1333-T g.chr22:45624974_45624977delCAAA uc003bfx.1 - NM_001009880 NP_001009880 ADCY5 111 broad.mit.edu 37 3 123102705 123102706 + Intron DEL CA - - 2011-2293:2012-1333-T g.chr3:123102705_123102706delCA uc003egh.1 - ADCY5_uc003egg.1_Intron|ADCY5_uc003egi.1_Intron NM_183357 NP_899200 IGF2BP2 10644 broad.mit.edu 37 3 185383189 185383190 + Intron INS - AT AT 2011-2293:2012-1333-T g.chr3:185383189_185383190insAT uc003fpo.2 - IGF2BP2_uc010hyi.2_Intron|IGF2BP2_uc010hyj.2_Intron|IGF2BP2_uc010hyk.2_Intron|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Intron NM_006548 NP_006539 TACC1 6867 broad.mit.edu 37 8 38627163 38627164 + Intron DEL GT - - 2011-2293:2012-1333-T g.chr8:38627163_38627164delGT uc011lbz.1 + TACC1_uc011lby.1_Intron|TACC1_uc003xma.2_Intron|TACC1_uc003xlz.2_Intron|TACC1_uc003xmc.3_Intron|TACC1_uc003xmb.3_Intron|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron NM_006283 NP_006274 TRAPPC9 83696 broad.mit.edu 37 8 141167101 141167101 + Intron DEL T - - rs151118440 by1000genomes 2011-2293:2012-1333-T g.chr8:141167101delT uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 NUP214 8021 broad.mit.edu 37 9 134067553 134067553 + Intron DEL A - - 2011-2293:2012-1333-T g.chr9:134067553delA uc004cag.2 + NUP214_uc004cah.2_Intron|NUP214_uc004cai.2_Intron|NUP214_uc010mzg.2_Intron|NUP214_uc011mcg.1_Intron|NUP214_uc010mzf.2_Intron|NUP214_uc011mcf.1_Intron|NUP214_uc010mzh.1_Intron|NUP214_uc010mzi.1_5'UTR NM_005085 NP_005076 FMN2 56776 broad.mit.edu 37 1 240348333 240348333 + Intron DEL C - - rs66890903 2011-2297:2012-323-T g.chr1:240348333delC uc010pyd.1 + FMN2_uc010pye.1_Intron NM_020066 NP_064450 FAM107B 83641 broad.mit.edu 37 10 14610308 14610309 + Intron INS - TG TG 2011-2297:2012-323-T g.chr10:14610308_14610309insTG uc001ina.1 - FAM107B_uc010qbu.1_Intron|FAM107B_uc009xjg.1_Intron|FAM107B_uc001imy.1_Intron|FAM107B_uc001imz.1_Intron NM_031453 NP_113641 TPCN2 219931 broad.mit.edu 37 11 68836546 68836546 + Intron DEL C - - 2011-2297:2012-323-T g.chr11:68836546delC uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron NM_139075 NP_620714 TPCN2 219931 broad.mit.edu 37 11 68836550 68836551 + Intron DEL AG - - rs79094004 2011-2297:2012-323-T g.chr11:68836550_68836551delAG uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron NM_139075 NP_620714 ADAMTS17 170691 broad.mit.edu 37 15 100598506 100598507 + Intron INS - T T rs150896439;rs68090700 by1000genomes 2011-2297:2012-323-T g.chr15:100598506_100598507insT uc002bvv.1 - NM_139057 NP_620688 UNKL 64718 broad.mit.edu 37 16 1437129 1437129 + Intron DEL T - - 2011-2297:2012-323-T g.chr16:1437129delT uc010brn.1 - MAPK8IP3 23162 broad.mit.edu 37 16 1789733 1789734 + Intron DEL GT - - 2011-2297:2012-323-T g.chr16:1789733_1789734delGT uc002cmk.2 + MAPK8IP3_uc002cmi.1_Intron|MAPK8IP3_uc002cmj.1_Intron|MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Intron NM_015133 NP_055948 TP53 7157 broad.mit.edu 37 17 7579442 7579442 + Frame_Shift_Del DEL G - - 2011-2297:2012-323-T g.chr17:7579442delG uc002gim.2 - 4 439 c.245delC c.(244-246)CCGfs p.P82fs TP53_uc002gig.1_Frame_Shift_Del_p.P82fs|TP53_uc002gih.2_Frame_Shift_Del_p.P82fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P82fs|TP53_uc010cni.1_Frame_Shift_Del_p.P82fs|TP53_uc002gij.2_Frame_Shift_Del_p.P82fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.P43fs|TP53_uc010cnk.1_Frame_Shift_Del_p.P97fs NM_001126112 NP_001119584 NACA2 342538 broad.mit.edu 37 17 59668338 59668338 + Frame_Shift_Del DEL T - - 2011-2297:2012-323-T g.chr17:59668338delT uc002izj.2 - 1 230 c.204delA c.(202-204)AAAfs p.K68fs NM_199290 NP_954984 C20orf26 26074 broad.mit.edu 37 20 20338154 20338155 + Intron INS - GT GT rs144757305 2011-2297:2012-323-T g.chr20:20338154_20338155insGT uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 MN1 4330 broad.mit.edu 37 22 28195625 28195627 + In_Frame_Del DEL GCT - - 2011-2297:2012-323-T g.chr22:28195625_28195627delGCT uc003adj.2 - 1 1860_1862 c.905_907delAGC c.(904-909)CAGCCC>CCC p.Q302del NM_002430 NP_002421 TNK2 10188 broad.mit.edu 37 3 195597917 195597918 + Intron INS - G G 2011-2297:2012-323-T g.chr3:195597917_195597918insG uc003fvu.1 - TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Intron|TNK2_uc003fvs.1_Intron|TNK2_uc003fvt.1_Intron|TNK2_uc010hzw.1_Intron|TNK2_uc003fvv.1_Intron NM_005781 NP_005772 SLC12A7 10723 broad.mit.edu 37 5 1070240 1070241 + Intron INS - A A 2011-2297:2012-323-T g.chr5:1070240_1070241insA uc003jbu.2 - NM_006598 NP_006589 DNAH5 1767 broad.mit.edu 37 5 13839401 13839401 + Intron DEL A - - 2011-2297:2012-323-T g.chr5:13839401delA uc003jfd.2 - NM_001369 NP_001360 ODZ2 57451 broad.mit.edu 37 5 166854853 166854854 + Intron INS - G G rs34196468 2011-2297:2012-323-T g.chr5:166854853_166854854insG uc010jjd.2 + NM_001122679 NP_001116151 MMP16 4325 broad.mit.edu 37 8 89340035 89340036 + 5'Flank DEL AC - - 2011-2297:2012-323-T g.chr8:89340035_89340036delAC uc003yeb.3 - MMP16_uc003yec.2_5'Flank NM_005941 NP_005932 KRTAP5-6 440023 broad.mit.edu 37 11 1718454 1718454 + 5'UTR DEL C - - 2011-2298:2012-322-T g.chr11:1718454delC uc001lua.2 + 1 NM_001012416 NP_001012416 CD5 921 broad.mit.edu 37 11 60871545 60871546 + Intron DEL TG - - rs72188050 2011-2298:2012-322-T g.chr11:60871545_60871546delTG uc009ynk.2 + NM_014207 NP_055022 JAG2 3714 broad.mit.edu 37 14 105629931 105629932 + Intron INS - T T 2011-2298:2012-322-T g.chr14:105629931_105629932insT uc001yqg.2 - JAG2_uc001yqh.2_Intron NM_002226 NP_002217 SOLH 6650 broad.mit.edu 37 16 594824 594825 + Intron INS - T T 2011-2298:2012-322-T g.chr16:594824_594825insT uc002chi.2 + SOLH_uc002chh.1_Intron NM_005632 NP_005623 OSGIN1 29948 broad.mit.edu 37 16 83984416 83984419 + Intron DEL ACAT - - rs139070918 2011-2298:2012-322-T g.chr16:83984416_83984419delACAT uc002fha.2 + OSGIN1_uc002fhb.2_Intron|OSGIN1_uc002fhc.2_5'Flank NM_013370 NP_037502 MC1R 4157 broad.mit.edu 37 16 89981310 89981311 + 5'Flank INS - A A 2011-2298:2012-322-T g.chr16:89981310_89981311insA uc002fpe.3 + uc010ciy.1_RNA NM_002386 NP_002377 MC1R 4157 broad.mit.edu 37 16 89981311 89981312 + 5'Flank INS - A A 2011-2298:2012-322-T g.chr16:89981311_89981312insA uc002fpe.3 + uc010ciy.1_RNA NM_002386 NP_002377 TBC1D16 125058 broad.mit.edu 37 17 77998194 77998195 + Intron DEL AC - - 2011-2298:2012-322-T g.chr17:77998194_77998195delAC uc002jxj.2 - NM_019020 NP_061893 TBCD 6904 broad.mit.edu 37 17 80806756 80806756 + Intron DEL C - - rs67238067 2011-2298:2012-322-T g.chr17:80806756delC uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 ST8SIA5 29906 broad.mit.edu 37 18 44337434 44337435 + 5'Flank INS - A A rs75150290 2011-2298:2012-322-T g.chr18:44337434_44337435insA uc002lcj.1 - ST8SIA5_uc010xcy.1_5'Flank|ST8SIA5_uc010xcz.1_5'Flank|ST8SIA5_uc010dno.1_5'Flank NM_013305 NP_037437 BCL2 596 broad.mit.edu 37 18 60866177 60866178 + Intron INS - AG AG 2011-2298:2012-322-T g.chr18:60866177_60866178insAG uc002lit.1 - BCL2_uc002liu.1_Intron NM_000633 NP_000624 ZNF554 115196 broad.mit.edu 37 19 2818347 2818348 + 5'Flank INS - C C 2011-2298:2012-322-T g.chr19:2818347_2818348insC uc002lwm.2 + ZNF554_uc002lwl.2_5'Flank NM_001102651 NP_001096121 FBN3 84467 broad.mit.edu 37 19 8201633 8201634 + Intron INS - G G 2011-2298:2012-322-T g.chr19:8201633_8201634insG uc002mjf.2 - NM_032447 NP_115823 AGXT 189 broad.mit.edu 37 2 241811807 241811809 + Intron DEL GGT - - rs62189565 by1000genomes 2011-2298:2012-322-T g.chr2:241811807_241811809delGGT uc002waa.3 + AGXT_uc010zoi.1_Intron NM_000030 NP_000021 TAF4 6874 broad.mit.edu 37 20 60557730 60557730 + Intron DEL C - - 2011-2298:2012-322-T g.chr20:60557730delC uc002ybs.2 - NM_003185 NP_003176 TRPM2 7226 broad.mit.edu 37 21 45815564 45815564 + Intron DEL G - - 2011-2298:2012-322-T g.chr21:45815564delG uc002zet.1 + TRPM2_uc002zeu.1_Intron|TRPM2_uc002zew.1_Intron|TRPM2_uc010gpt.1_Intron|TRPM2_uc002zex.1_Intron|TRPM2_uc002zey.1_Intron NM_003307 NP_003298 CHST13 166012 broad.mit.edu 37 3 126258641 126258643 + Intron DEL CAC - - 2011-2298:2012-322-T g.chr3:126258641_126258643delCAC uc003eja.2 + NM_152889 NP_690849 GAK 2580 broad.mit.edu 37 4 880960 880966 + Intron DEL ACACGCG - - 2011-2298:2012-322-T g.chr4:880960_880966delACACGCG uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 GAK 2580 broad.mit.edu 37 4 880968 880970 + Intron DEL ACA - - 2011-2298:2012-322-T g.chr4:880968_880970delACA uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 SLC12A7 10723 broad.mit.edu 37 5 1072275 1072276 + Intron INS - G G 2011-2298:2012-322-T g.chr5:1072275_1072276insG uc003jbu.2 - NM_006598 NP_006589 SLCO4C1 353189 broad.mit.edu 37 5 101593023 101593023 + Intron DEL A - - 2011-2298:2012-322-T g.chr5:101593023delA uc003knm.2 - NM_180991 NP_851322 CAPN11 11131 broad.mit.edu 37 6 44149913 44149914 + Intron DEL AT - - rs70993437;rs71802724 2011-2298:2012-322-T g.chr6:44149913_44149914delAT uc003owt.1 + CAPN11_uc011dvn.1_Intron NM_007058 NP_008989 SUN1 23353 broad.mit.edu 37 7 873703 873703 + Intron DEL G - - rs66513784 2011-2298:2012-322-T g.chr7:873703delG uc011jvp.1 + SUN1_uc010ksa.1_Intron|SUN1_uc003sje.1_Intron|SUN1_uc003sjf.2_Intron|SUN1_uc011jvq.1_Intron NM_001130965 NP_001124437 SUN1 23353 broad.mit.edu 37 7 873707 873707 + Intron DEL T - - rs58126002 2011-2298:2012-322-T g.chr7:873707delT uc011jvp.1 + SUN1_uc010ksa.1_Intron|SUN1_uc003sje.1_Intron|SUN1_uc003sjf.2_Intron|SUN1_uc011jvq.1_Intron NM_001130965 NP_001124437 ADAP1 11033 broad.mit.edu 37 7 946128 946129 + Intron INS - A A 2011-2298:2012-322-T g.chr7:946128_946129insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PTPRN2 5799 broad.mit.edu 37 7 157449993 157449996 + Intron DEL ACAC - - 2011-2298:2012-322-T g.chr7:157449993_157449996delACAC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 UBXN2B 137886 broad.mit.edu 37 8 59337247 59337247 + Intron DEL G - - 2011-2298:2012-322-T g.chr8:59337247delG uc003xtl.2 + NM_001077619 NP_001071087 PKHD1L1 93035 broad.mit.edu 37 8 110509584 110509586 + Intron DEL CTC - - rs72408989;rs61314588 2011-2298:2012-322-T g.chr8:110509584_110509586delCTC uc003yne.2 + NM_177531 NP_803875 POMT1 10585 broad.mit.edu 37 9 134391157 134391158 + Intron INS - C C rs71372740 2011-2298:2012-322-T g.chr9:134391157_134391158insC uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 TTF1 7270 broad.mit.edu 37 9 135252836 135252839 + Intron DEL GGTG - - 2011-2298:2012-322-T g.chr9:135252836_135252839delGGTG uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 ADAMTSL2 9719 broad.mit.edu 37 9 136429200 136429201 + Intron DEL GA - - 2011-2298:2012-322-T g.chr9:136429200_136429201delGA uc011mdl.1 + ADAMTSL2_uc004cei.2_Intron|ADAMTSL2_uc004cej.2_5'Flank NM_001145320 NP_001138792 SPAG17 200162 broad.mit.edu 37 1 118514723 118514724 + Intron INS - A A 2011-2299:2012-1334-T g.chr1:118514723_118514724insA uc001ehk.2 - NM_206996 NP_996879 LGR6 59352 broad.mit.edu 37 1 202173587 202173588 + Intron INS - CC CC rs143610412 by1000genomes 2011-2299:2012-1334-T g.chr1:202173587_202173588insCC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 CCDC6 8030 broad.mit.edu 37 10 61642263 61642267 + Intron DEL AAGGA - - 2011-2299:2012-1334-T g.chr10:61642263_61642267delAAGGA uc001jks.3 - NM_005436 NP_005427 CCDC6 8030 broad.mit.edu 37 10 61642278 61642279 + Intron DEL AG - - rs71006297 2011-2299:2012-1334-T g.chr10:61642278_61642279delAG uc001jks.3 - NM_005436 NP_005427 CCDC6 8030 broad.mit.edu 37 10 61642286 61642290 + Intron DEL AAGGA - - 2011-2299:2012-1334-T g.chr10:61642286_61642290delAAGGA uc001jks.3 - NM_005436 NP_005427 CCDC6 8030 broad.mit.edu 37 10 61642346 61642347 + Intron DEL CG - - rs74706779 2011-2299:2012-1334-T g.chr10:61642346_61642347delCG uc001jks.3 - NM_005436 NP_005427 PTEN 5728 broad.mit.edu 37 10 89626375 89626376 + Intron INS - C C rs142681768;rs66749138 by1000genomes 2011-2299:2012-1334-T g.chr10:89626375_89626376insC uc001kfb.2 + NM_000314 NP_000305 INPP5A 3632 broad.mit.edu 37 10 134577161 134577162 + Intron DEL AT - - rs10534980;rs76083849 2011-2299:2012-1334-T g.chr10:134577161_134577162delAT uc001llp.2 + INPP5A_uc001llo.1_Intron|INPP5A_uc001llq.2_Intron NM_005539 NP_005530 OR5L2 26338 broad.mit.edu 37 11 55594238 55594243 + 5'Flank DEL TAAGTA - - rs71468580;rs66960139 2011-2299:2012-1334-T g.chr11:55594238_55594243delTAAGTA uc001nhy.1 + NM_001004739 NP_001004739 SHANK2 22941 broad.mit.edu 37 11 70633288 70633290 + Intron DEL CAA - - 2011-2299:2012-1334-T g.chr11:70633288_70633290delCAA uc001oqc.2 - NM_012309 NP_036441 FAT3 120114 broad.mit.edu 37 11 92438775 92438776 + Intron INS - TA TA 2011-2299:2012-1334-T g.chr11:92438775_92438776insTA uc001pdj.3 + NM_001008781 NP_001008781 FAT3 120114 broad.mit.edu 37 11 92438778 92438779 + Intron INS - ATC ATC 2011-2299:2012-1334-T g.chr11:92438778_92438779insATC uc001pdj.3 + NM_001008781 NP_001008781 FAT3 120114 broad.mit.edu 37 11 92438810 92438810 + Intron DEL T - - rs145584143 by1000genomes 2011-2299:2012-1334-T g.chr11:92438810delT uc001pdj.3 + NM_001008781 NP_001008781 PHLDB1 23187 broad.mit.edu 37 11 118480022 118480023 + Intron INS - C C 2011-2299:2012-1334-T g.chr11:118480022_118480023insC uc001ptr.1 + PHLDB1_uc010ryh.1_Intron|PHLDB1_uc001pts.2_Intron|PHLDB1_uc001ptt.2_Intron|PHLDB1_uc001ptu.1_Intron NM_015157 NP_055972 PHLDB1 23187 broad.mit.edu 37 11 118480028 118480028 + Intron DEL C - - 2011-2299:2012-1334-T g.chr11:118480028delC uc001ptr.1 + PHLDB1_uc010ryh.1_Intron|PHLDB1_uc001pts.2_Intron|PHLDB1_uc001ptt.2_Intron|PHLDB1_uc001ptu.1_Intron NM_015157 NP_055972 B4GALNT3 283358 broad.mit.edu 37 12 620604 620605 + Intron INS - CTT CTT 2011-2299:2012-1334-T g.chr12:620604_620605insCTT uc001qii.1 + NM_173593 NP_775864 PTPN6 5777 broad.mit.edu 37 12 7069423 7069423 + Intron DEL G - - 2011-2299:2012-1334-T g.chr12:7069423delG uc001qsb.2 + PTPN6_uc001qsa.1_Intron|PTPN6_uc010sfr.1_Intron|PTPN6_uc009zfl.1_Intron|PTPN6_uc010sfs.1_Intron NM_002831 NP_002822 DCTN2 10540 broad.mit.edu 37 12 57929244 57929245 + Intron DEL AC - - 2011-2299:2012-1334-T g.chr12:57929244_57929245delAC uc001som.1 - DCTN2_uc009zpu.1_Intron|DCTN2_uc009zpv.1_Intron|DCTN2_uc009zpw.1_Intron|DCTN2_uc001soo.1_Intron|DCTN2_uc001son.1_Intron|DCTN2_uc001sop.1_Intron|DCTN2_uc001soq.1_Intron|DCTN2_uc009zpx.1_Intron NM_006400 NP_006391 RB1 5925 broad.mit.edu 37 13 48919299 48919300 + Frame_Shift_Ins INS - TGATG TGATG 2011-2299:2012-1334-T g.chr13:48919299_48919300insTGATG uc001vcb.2 + 4 630_631 c.464_465insTGATG c.(463-465)TATfs p.Y155fs RB1_uc010acs.1_Intron NM_000321 NP_000312 MYO9A 4649 broad.mit.edu 37 15 72395540 72395540 + Intron DEL A - - 2011-2299:2012-1334-T g.chr15:72395540delA uc002atl.3 - MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Intron NM_006901 NP_008832 ABAT 18 broad.mit.edu 37 16 8807140 8807141 + Intron INS - A A rs150693734 2011-2299:2012-1334-T g.chr16:8807140_8807141insA uc002czc.3 + ABAT_uc002czd.3_5'UTR|ABAT_uc010buh.2_5'UTR NM_020686 NP_065737 TCF25 22980 broad.mit.edu 37 16 89951451 89951451 + Intron DEL C - - 2011-2299:2012-1334-T g.chr16:89951451delC uc002fpb.2 + TCF25_uc002fpc.2_Intron NM_014972 NP_055787 ABR 29 broad.mit.edu 37 17 1049796 1049796 + Intron DEL C - - rs67743896 2011-2299:2012-1334-T g.chr17:1049796delC uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 TP53 7157 broad.mit.edu 37 17 7579400 7579400 + Frame_Shift_Del DEL G - - 2011-2299:2012-1334-T g.chr17:7579400delG uc002gim.2 - 4 481 c.287delC c.(286-288)TCTfs p.S96fs TP53_uc002gig.1_Frame_Shift_Del_p.S96fs|TP53_uc002gih.2_Frame_Shift_Del_p.S96fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.S96fs|TP53_uc010cni.1_Frame_Shift_Del_p.S96fs|TP53_uc002gij.2_Frame_Shift_Del_p.S96fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.S57fs|TP53_uc010cnk.1_Frame_Shift_Del_p.S111fs NM_001126112 NP_001119584 CDRT4 284040 broad.mit.edu 37 17 15368347 15368350 + Intron DEL ACAG - - rs72379161 2011-2299:2012-1334-T g.chr17:15368347_15368350delACAG uc002gop.1 - CDRT4_uc010vvw.1_Intron|FAM18B2_uc010vvx.1_Intron NM_173622 NP_775893 MED1 5469 broad.mit.edu 37 17 37607721 37607722 + 5'Flank INS - T T rs35839148;rs72286452 2011-2299:2012-1334-T g.chr17:37607721_37607722insT uc002hrv.3 - MED1_uc010wee.1_5'Flank|MED1_uc002hru.2_5'Flank NM_004774 NP_004765 SETBP1 26040 broad.mit.edu 37 18 42456670 42456671 + Intron INS - TCTT TCTT rs142511824;rs145744783 by1000genomes 2011-2299:2012-1334-T g.chr18:42456670_42456671insTCTT uc010dni.2 + SETBP1_uc002lay.2_Frame_Shift_Ins_p.L227fs NM_015559 NP_056374 U2AF2 11338 broad.mit.edu 37 19 56181884 56181884 + Intron DEL G - - rs66506071 2011-2299:2012-1334-T g.chr19:56181884delG uc002qlu.2 + U2AF2_uc002qlt.2_Intron NM_007279 NP_009210 SH3YL1 26751 broad.mit.edu 37 2 236010 236011 + Intron INS - GCA GCA rs71852552 2011-2299:2012-1334-T g.chr2:236010_236011insGCA uc002qvx.2 - SH3YL1_uc002qvy.2_Intron|SH3YL1_uc002qvz.2_Intron|SH3YL1_uc002qwa.2_Intron|SH3YL1_uc010ewe.2_Intron|SH3YL1_uc002qvu.2_Intron|SH3YL1_uc002qvv.2_Intron|SH3YL1_uc002qvw.2_Intron NM_015677 NP_056492 SNTG2 54221 broad.mit.edu 37 2 960889 960890 + Intron INS - T T rs67602909 2011-2299:2012-1334-T g.chr2:960889_960890insT uc002qwq.2 + SNTG2_uc002qwp.2_Intron|SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 PXDN 7837 broad.mit.edu 37 2 1715115 1715116 + Intron DEL CA - - 2011-2299:2012-1334-T g.chr2:1715115_1715116delCA uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 RMND5A 64795 broad.mit.edu 37 2 87623883 87623883 + Intron DEL A - - 2011-2299:2012-1334-T g.chr2:87623883delA uc002srs.3 + CDH4 1002 broad.mit.edu 37 20 60067211 60067213 + Intron DEL TGT - - 2011-2299:2012-1334-T g.chr20:60067211_60067213delTGT uc002ybn.1 + NM_001794 NP_001785 TP63 8626 broad.mit.edu 37 3 189507251 189507252 + Intron INS - T T 2011-2299:2012-1334-T g.chr3:189507251_189507252insT uc003fry.2 + TP63_uc003frx.2_Intron|TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsa.2_5'Flank|TP63_uc003fsb.2_5'Flank|TP63_uc003fsc.2_5'Flank|TP63_uc003fsd.2_5'Flank|TP63_uc010hzd.1_5'Flank NM_003722 NP_003713 MTNR1A 4543 broad.mit.edu 37 4 187461961 187461962 + Intron INS - GAAG GAAG rs34538990 2011-2299:2012-1334-T g.chr4:187461961_187461962insGAAG uc003izd.1 - NM_005958 NP_005949 CEP72 55722 broad.mit.edu 37 5 649353 649354 + Intron INS - G G 2011-2299:2012-1334-T g.chr5:649353_649354insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649393 649394 + Intron INS - G G 2011-2299:2012-1334-T g.chr5:649393_649394insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650218 650219 + Intron DEL TG - - 2011-2299:2012-1334-T g.chr5:650218_650219delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650292 650293 + Intron INS - G G 2011-2299:2012-1334-T g.chr5:650292_650293insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650334 650335 + Intron DEL TG - - 2011-2299:2012-1334-T g.chr5:650334_650335delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650411 650412 + Intron INS - G G 2011-2299:2012-1334-T g.chr5:650411_650412insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650518 650519 + Intron INS - G G 2011-2299:2012-1334-T g.chr5:650518_650519insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650525 650526 + Intron INS - A A 2011-2299:2012-1334-T g.chr5:650525_650526insA uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650532 650537 + Intron DEL AGGTGT - - 2011-2299:2012-1334-T g.chr5:650532_650537delAGGTGT uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650551 650551 + Intron DEL G - - 2011-2299:2012-1334-T g.chr5:650551delG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650554 650555 + Intron INS - TG TG 2011-2299:2012-1334-T g.chr5:650554_650555insTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650576 650576 + Intron DEL G - - 2011-2299:2012-1334-T g.chr5:650576delG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650798 650799 + Intron DEL TG - - 2011-2299:2012-1334-T g.chr5:650798_650799delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650862 650863 + Intron INS - G G 2011-2299:2012-1334-T g.chr5:650862_650863insG uc003jbf.2 + NM_018140 NP_060610 SLC6A3 6531 broad.mit.edu 37 5 1422562 1422563 + Intron DEL CA - - 2011-2299:2012-1334-T g.chr5:1422562_1422563delCA uc003jck.2 - NM_001044 NP_001035 SLC6A3 6531 broad.mit.edu 37 5 1422600 1422601 + Intron DEL CA - - 2011-2299:2012-1334-T g.chr5:1422600_1422601delCA uc003jck.2 - NM_001044 NP_001035 UNC93A 54346 broad.mit.edu 37 6 167709066 167709067 + Intron INS - G G 2011-2299:2012-1334-T g.chr6:167709066_167709067insG uc003qvq.2 + UNC93A_uc003qvr.2_Intron NM_018974 NP_061847 ADAP1 11033 broad.mit.edu 37 7 945360 945361 + Intron INS - A A rs147722082 by1000genomes 2011-2299:2012-1334-T g.chr7:945360_945361insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 C7orf23 79161 broad.mit.edu 37 7 86827351 86827353 + In_Frame_Del DEL ATC - - 2011-2299:2012-1334-T g.chr7:86827351_86827353delATC uc003uio.2 - 3 350_352 c.138_140delGAT c.(136-141)CTGATA>CTA p.I47del NM_024315 NP_077291 CNTNAP2 26047 broad.mit.edu 37 7 148106475 148106476 + Intron INS - TT TT rs72268642;rs61232377 2011-2299:2012-1334-T g.chr7:148106475_148106476insTT uc003weu.1 + CNTNAP2_uc003wev.1_Intron NM_014141 NP_054860 CNTNAP2 26047 broad.mit.edu 37 7 148106477 148106478 + Intron INS - TG TG rs71188981;rs60451214 2011-2299:2012-1334-T g.chr7:148106477_148106478insTG uc003weu.1 + CNTNAP2_uc003wev.1_Intron NM_014141 NP_054860 PTPRN2 5799 broad.mit.edu 37 7 157864427 157864427 + Intron DEL G - - 2011-2299:2012-1334-T g.chr7:157864427delG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc003wnt.1_5'Flank NM_002847 NP_002838 UBR5 51366 broad.mit.edu 37 8 103276944 103276945 + Intron INS - A A rs71574038 2011-2299:2012-1334-T g.chr8:103276944_103276945insA uc003ykr.1 - UBR5_uc003yks.1_Intron|UBR5_uc003ykq.2_Intron NM_015902 NP_056986 CSMD3 114788 broad.mit.edu 37 8 113363348 113363349 + Intron INS - C C 2011-2299:2012-1334-T g.chr8:113363348_113363349insC uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 TRAPPC9 83696 broad.mit.edu 37 8 141167143 141167143 + Intron DEL T - - rs67192772 2011-2299:2012-1334-T g.chr8:141167143delT uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 TOP1MT 116447 broad.mit.edu 37 8 144404116 144404117 + Intron DEL CA - - 2011-2299:2012-1334-T g.chr8:144404116_144404117delCA uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 DOCK8 81704 broad.mit.edu 37 9 400802 400803 + Intron INS - CCA CCA 2011-2299:2012-1334-T g.chr9:400802_400803insCCA uc003zgf.2 + DOCK8_uc010mgu.2_Intron|DOCK8_uc010mgv.2_Intron|DOCK8_uc010mgw.1_Intron|DOCK8_uc003zgk.2_Intron NM_203447 NP_982272 NUP214 8021 broad.mit.edu 37 9 134000768 134000768 + 5'Flank DEL T - - rs3215836 2011-2299:2012-1334-T g.chr9:134000768delT uc004cag.2 + NUP214_uc004cah.2_5'Flank|NUP214_uc004caf.1_5'Flank NM_005085 NP_005076 POMT1 10585 broad.mit.edu 37 9 134391531 134391534 + Intron DEL CTAA - - 2011-2299:2012-1334-T g.chr9:134391531_134391534delCTAA uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 LCN6 158062 broad.mit.edu 37 9 139642116 139642117 + Intron INS - C C 2011-2299:2012-1334-T g.chr9:139642116_139642117insC uc004ciy.2 - LCN10_uc004ciw.2_Intron|uc004ciz.1_RNA NM_198946 NP_945184 HUWE1 10075 broad.mit.edu 37 X 53565683 53565684 + Intron INS - CTCT CTCT rs3834703 2011-2299:2012-1334-T g.chrX:53565683_53565684insCTCT uc004dsp.2 - HUWE1_uc004dsn.2_Intron|HUWE1_uc004dsq.1_Intron NM_031407 NP_113584 AGRN 375790 broad.mit.edu 37 1 966468 966469 + Intron DEL TG - - 2011-2300:2012-321-T g.chr1:966468_966469delTG uc001ack.1 + NM_198576 NP_940978 UTS2 10911 broad.mit.edu 37 1 7963190 7963192 + Intron DEL CTC - - 2011-2300:2012-321-T g.chr1:7963190_7963192delCTC uc001aoq.2 - NM_006786 NP_006777 LRRC27 80313 broad.mit.edu 37 10 134172629 134172630 + Intron INS - AGC AGC 2011-2300:2012-321-T g.chr10:134172629_134172630insAGC uc010quw.1 + LRRC27_uc001llg.2_Intron|LRRC27_uc001lli.2_Intron|LRRC27_uc001llj.2_Intron|LRRC27_uc001llk.3_Intron NM_030626 NP_085129 KNDC1 85442 broad.mit.edu 37 10 135037274 135037275 + Intron INS - GT GT rs143526042 2011-2300:2012-321-T g.chr10:135037274_135037275insGT uc001llz.1 + NM_152643 NP_689856 MYO9A 4649 broad.mit.edu 37 15 72395807 72395808 + Intron INS - GTG GTG 2011-2300:2012-321-T g.chr15:72395807_72395808insGTG uc002atl.3 - MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Intron NM_006901 NP_008832 MYO9A 4649 broad.mit.edu 37 15 72395819 72395820 + Intron INS - GTG GTG 2011-2300:2012-321-T g.chr15:72395819_72395820insGTG uc002atl.3 - MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Intron NM_006901 NP_008832 SOLH 6650 broad.mit.edu 37 16 594810 594811 + Intron INS - T T rs67790703 2011-2300:2012-321-T g.chr16:594810_594811insT uc002chi.2 + SOLH_uc002chh.1_Intron NM_005632 NP_005623 SOLH 6650 broad.mit.edu 37 16 594824 594825 + Intron INS - T T 2011-2300:2012-321-T g.chr16:594824_594825insT uc002chi.2 + SOLH_uc002chh.1_Intron NM_005632 NP_005623 SOLH 6650 broad.mit.edu 37 16 594825 594826 + Intron INS - GT GT 2011-2300:2012-321-T g.chr16:594825_594826insGT uc002chi.2 + SOLH_uc002chh.1_Intron NM_005632 NP_005623 DPEP1 1800 broad.mit.edu 37 16 89701002 89701003 + Intron INS - C C 2011-2300:2012-321-T g.chr16:89701002_89701003insC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 TBCD 6904 broad.mit.edu 37 17 80807066 80807067 + Intron INS - C C rs57484051 2011-2300:2012-321-T g.chr17:80807066_80807067insC uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 PXDN 7837 broad.mit.edu 37 2 1724149 1724149 + Intron DEL G - - 2011-2300:2012-321-T g.chr2:1724149delG uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 TSSC1 7260 broad.mit.edu 37 2 3299013 3299013 + Intron DEL C - - 2011-2300:2012-321-T g.chr2:3299013delC uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 PIK3CA 5290 broad.mit.edu 37 3 178928076 178928084 + In_Frame_Del DEL TTAGAAGAT - - 2011-2300:2012-321-T g.chr3:178928076_178928084delTTAGAAGAT uc003fjk.2 + 8 1511_1519 c.1354_1362delTTAGAAGAT c.(1354-1362)TTAGAAGATdel p.LED452del NM_006218 NP_006209 PDE6B 5158 broad.mit.edu 37 4 628980 628987 + Intron DEL GCCTGCCC - - rs143422095 by1000genomes 2011-2300:2012-321-T g.chr4:628980_628987delGCCTGCCC uc003gap.2 + PDE6B_uc003gao.3_Intron NM_000283 NP_000274 RNGTT 8732 broad.mit.edu 37 6 89638989 89638989 + Intron DEL A - - rs111616936 2011-2300:2012-321-T g.chr6:89638989delA uc003pmr.2 - RNGTT_uc003pms.2_Intron|RNGTT_uc011dzu.1_Intron|RNGTT_uc003pmt.2_Intron NM_003800 NP_003791 ADAP1 11033 broad.mit.edu 37 7 946060 946061 + Intron INS - A A rs145100642 by1000genomes 2011-2300:2012-321-T g.chr7:946060_946061insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 982929 982931 + Intron DEL AGA - - 2011-2300:2012-321-T g.chr7:982929_982931delAGA uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PTPRN2 5799 broad.mit.edu 37 7 158316507 158316508 + Intron INS - GTC GTC 2011-2300:2012-321-T g.chr7:158316507_158316508insGTC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ARHGEF10 9639 broad.mit.edu 37 8 1781260 1781261 + Intron DEL GC - - rs140906618;rs150664566 by1000genomes 2011-2300:2012-321-T g.chr8:1781260_1781261delGC uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 RIMS2 9699 broad.mit.edu 37 8 104922519 104922520 + Intron INS - T T rs112118632 2011-2300:2012-321-T g.chr8:104922519_104922520insT uc003yls.2 + RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Intron|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank NM_014677 NP_055492 TTF1 7270 broad.mit.edu 37 9 135252966 135252967 + Intron DEL GT - - 2011-2300:2012-321-T g.chr9:135252966_135252967delGT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 ADARB2 105 broad.mit.edu 37 10 1419359 1419360 + Intron DEL GT - - 2011-2301:2012-320-T g.chr10:1419359_1419360delGT uc009xhq.2 - NM_018702 NP_061172 ALDH3B2 222 broad.mit.edu 37 11 67436702 67436703 + Intron DEL TG - - 2011-2301:2012-320-T g.chr11:67436702_67436703delTG uc001omr.2 - ALDH3B2_uc001oms.2_Intron|ALDH3B2_uc009ysa.1_Intron NM_000695 NP_000686 PXMP2 5827 broad.mit.edu 37 12 133270293 133270293 + Intron DEL A - - 2011-2301:2012-320-T g.chr12:133270293delA uc001ukt.2 + PGAM5_uc010tbr.1_Intron NM_018663 NP_061133 FAM70B 348013 broad.mit.edu 37 13 114477547 114477550 + Intron DEL ACAC - - 2011-2301:2012-320-T g.chr13:114477547_114477550delACAC uc001vuh.2 + NM_182614 NP_872420 LMF1 64788 broad.mit.edu 37 16 998741 998742 + Intron INS - CCA CCA rs71142714 2011-2301:2012-320-T g.chr16:998741_998742insCCA uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 RPTOR 57521 broad.mit.edu 37 17 78608446 78608447 + Intron INS - TGTG TGTG 2011-2301:2012-320-T g.chr17:78608446_78608447insTGTG uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 TBCD 6904 broad.mit.edu 37 17 80807051 80807052 + Intron DEL GC - - rs60879470 2011-2301:2012-320-T g.chr17:80807051_80807052delGC uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 KATNAL2 83473 broad.mit.edu 37 18 44553364 44553365 + Intron INS - GT GT rs145061583 by1000genomes 2011-2301:2012-320-T g.chr18:44553364_44553365insGT uc002lco.2 + KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Intron NM_031303 NP_112593 LPPR3 79948 broad.mit.edu 37 19 815461 815464 + Intron DEL CCCA - - 2011-2301:2012-320-T g.chr19:815461_815464delCCCA uc002lpx.1 - LPPR3_uc010dru.1_5'Flank|LPPR3_uc002lpw.1_Intron|LPPR3_uc002lpy.1_Intron NM_024888 NP_079164 LPPR3 79948 broad.mit.edu 37 19 815467 815469 + Intron DEL CGT - - rs59458440 2011-2301:2012-320-T g.chr19:815467_815469delCGT uc002lpx.1 - LPPR3_uc010dru.1_5'Flank|LPPR3_uc002lpw.1_Intron|LPPR3_uc002lpy.1_Intron NM_024888 NP_079164 ZNF547 284306 broad.mit.edu 37 19 58010975 58010975 + Intron DEL T - - rs62126214 2011-2301:2012-320-T g.chr19:58010975delT uc002qpm.3 + ZNF773_uc002qox.2_5'Flank|ZNF773_uc002qoy.2_5'Flank|ZNF773_uc002qoz.2_5'Flank RMND5A 64795 broad.mit.edu 37 2 87625949 87625949 + Intron DEL A - - 2011-2301:2012-320-T g.chr2:87625949delA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87646427 87646428 + Intron INS - A A 2011-2301:2012-320-T g.chr2:87646427_87646428insA uc002srs.3 + CUL3 8452 broad.mit.edu 37 2 225346735 225346736 + Frame_Shift_Ins INS - GAGG GAGG 2011-2301:2012-320-T g.chr2:225346735_225346736insGAGG uc002vny.2 - 14 2286_2287 c.1902_1903insCCTC c.(1900-1905)CTCGCCfs p.L634fs CUL3_uc010zls.1_Frame_Shift_Ins_p.L568fs|CUL3_uc010fwy.1_Frame_Shift_Ins_p.L640fs NM_003590 NP_003581 AGAP1 116987 broad.mit.edu 37 2 236711445 236711446 + Intron INS - GTG GTG 2011-2301:2012-320-T g.chr2:236711445_236711446insGTG uc002vvs.2 + AGAP1_uc002vvt.2_Intron NM_001037131 NP_001032208 CDK5RAP1 51654 broad.mit.edu 37 20 31961124 31961125 + Intron DEL GT - - 2011-2301:2012-320-T g.chr20:31961124_31961125delGT uc010gek.2 - CDK5RAP1_uc002wyy.2_Intron|CDK5RAP1_uc002wyz.2_Intron|CDK5RAP1_uc002wza.2_Intron|CDK5RAP1_uc010gel.2_Intron|CDK5RAP1_uc010gem.2_Intron|CDK5RAP1_uc002wzc.1_Intron|CDK5RAP1_uc002wzb.1_5'Flank NM_016408 NP_057492 GMEB2 26205 broad.mit.edu 37 20 62240150 62240150 + Intron DEL C - - 2011-2301:2012-320-T g.chr20:62240150delC uc002yfp.1 - GMEB2_uc002yfq.1_Intron NM_012384 NP_036516 PARVB 29780 broad.mit.edu 37 22 44550452 44550453 + Intron DEL GT - - 2011-2301:2012-320-T g.chr22:44550452_44550453delGT uc003ben.2 + PARVB_uc003bem.2_Intron|PARVB_uc010gzn.2_Intron|PARVB_uc003beo.2_Intron NM_013327 NP_037459 RASA1 5921 broad.mit.edu 37 5 86669950 86669951 + Intron DEL AT - - 2011-2301:2012-320-T g.chr5:86669950_86669951delAT uc003kiw.2 + RASA1_uc010jav.2_Intron|RASA1_uc003kix.2_Intron|RASA1_uc011ctv.1_Intron|RASA1_uc011ctw.1_Intron|RASA1_uc010jaw.2_Intron NM_002890 NP_002881 HLA-G 3135 broad.mit.edu 37 6 29865448 29865448 + Intron DEL G - - rs9278416 2011-2301:2012-320-T g.chr6:29865448delG uc011dmb.1 + HCG2P7_uc003nof.2_5'Flank NM_002127 NP_002118 CAPN11 11131 broad.mit.edu 37 6 44149352 44149353 + Intron INS - CA CA rs111596793 2011-2301:2012-320-T g.chr6:44149352_44149353insCA uc003owt.1 + CAPN11_uc011dvn.1_Intron NM_007058 NP_008989 RNGTT 8732 broad.mit.edu 37 6 89638989 89638989 + Intron DEL A - - rs111616936 2011-2301:2012-320-T g.chr6:89638989delA uc003pmr.2 - RNGTT_uc003pms.2_Intron|RNGTT_uc011dzu.1_Intron|RNGTT_uc003pmt.2_Intron NM_003800 NP_003791 ADAP1 11033 broad.mit.edu 37 7 945534 945534 + Intron DEL A - - 2011-2301:2012-320-T g.chr7:945534delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PLXNA4 91584 broad.mit.edu 37 7 132248906 132248906 + Intron DEL C - - 2011-2301:2012-320-T g.chr7:132248906delC uc003vra.3 - PLXNA4_uc003vrc.2_Intron|PLXNA4_uc003vrb.2_Intron NM_020911 NP_065962 ADAM9 8754 broad.mit.edu 37 8 38902636 38902637 + Intron DEL TG - - rs138691481 by1000genomes 2011-2301:2012-320-T g.chr8:38902636_38902637delTG uc003xmr.2 + ADAM9_uc011lcf.1_Intron|ADAM9_uc011lcg.1_Intron|ADAM9_uc010lwr.2_Intron NM_003816 NP_003807 TSNARE1 203062 broad.mit.edu 37 8 143303904 143303905 + Intron INS - CCAC CCAC rs146878556;rs148483331 by1000genomes;by1000genomes 2011-2301:2012-320-T g.chr8:143303904_143303905insCCAC uc003ywk.2 - TSNARE1_uc011lju.1_Intron|TSNARE1_uc003ywj.2_Intron NM_145003 NP_659440 TTF1 7270 broad.mit.edu 37 9 135253720 135253723 + Intron DEL AATT - - 2011-2301:2012-320-T g.chr9:135253720_135253723delAATT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 COL5A1 1289 broad.mit.edu 37 9 137720743 137720744 + Intron DEL CA - - 2011-2301:2012-320-T g.chr9:137720743_137720744delCA uc004cfe.2 + uc004cff.2_Intron NM_000093 NP_000084 SHOX 6473 broad.mit.edu 37 X 583863 583864 + 5'Flank INS - AG AG 2011-2301:2012-320-T g.chrX:583863_583864insAG uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 ATE1 11101 broad.mit.edu 37 10 123597896 123597897 + Intron INS - AGA AGA rs146971192;rs66615114 by1000genomes 2011-2302:2012-314-T g.chr10:123597896_123597897insAGA uc001lfp.2 - ATE1_uc001lfq.2_Intron|ATE1_uc010qtr.1_Intron|ATE1_uc010qts.1_Intron|ATE1_uc010qtt.1_Intron|ATE1_uc001lfr.2_Intron|ATE1_uc009xzu.2_Intron NM_007041 NP_008972 LRRC27 80313 broad.mit.edu 37 10 134172656 134172658 + Intron DEL AGC - - 2011-2302:2012-314-T g.chr10:134172656_134172658delAGC uc010quw.1 + LRRC27_uc001llg.2_Intron|LRRC27_uc001lli.2_Intron|LRRC27_uc001llj.2_Intron|LRRC27_uc001llk.3_Intron NM_030626 NP_085129 SPTB 6710 broad.mit.edu 37 14 65232524 65232525 + Intron DEL GT - - rs75760704 2011-2302:2012-314-T g.chr14:65232524_65232525delGT uc001xhr.2 - SPTB_uc001xhs.2_Intron|SPTB_uc010aqi.2_Intron NM_001024858 NP_001020029 TP53 7157 broad.mit.edu 37 17 7578206 7578207 + Frame_Shift_Del DEL TA - - 2011-2302:2012-314-T g.chr17:7578206_7578207delTA uc002gim.2 - 6 836_837 c.642_643delTA c.(640-645)CATAGTfs p.H214fs TP53_uc002gig.1_Frame_Shift_Del_p.H214fs|TP53_uc002gih.2_Frame_Shift_Del_p.H214fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.H82fs|TP53_uc010cng.1_Frame_Shift_Del_p.H82fs|TP53_uc002gii.1_Frame_Shift_Del_p.H82fs|TP53_uc010cnh.1_Frame_Shift_Del_p.H214fs|TP53_uc010cni.1_Frame_Shift_Del_p.H214fs|TP53_uc002gij.2_Frame_Shift_Del_p.H214fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.H121fs|TP53_uc002gio.2_Frame_Shift_Del_p.H82fs|TP53_uc010vug.1_Frame_Shift_Del_p.H175fs NM_001126112 NP_001119584 MIER2 54531 broad.mit.edu 37 19 310545 310545 + Intron DEL C - - 2011-2302:2012-314-T g.chr19:310545delC uc002lok.1 - NM_017550 NP_060020 SNTG2 54221 broad.mit.edu 37 2 1282735 1282736 + Intron INS - GCGA GCGA rs74957399 2011-2302:2012-314-T g.chr2:1282735_1282736insGCGA uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 PXDN 7837 broad.mit.edu 37 2 1708140 1708140 + Intron DEL G - - 2011-2302:2012-314-T g.chr2:1708140delG uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 RMND5A 64795 broad.mit.edu 37 2 87643664 87643665 + Intron INS - A A 2011-2302:2012-314-T g.chr2:87643664_87643665insA uc002srs.3 + AFF3 3899 broad.mit.edu 37 2 100218011 100218013 + In_Frame_Del DEL GCT - - 2011-2302:2012-314-T g.chr2:100218011_100218013delGCT uc002tag.2 - 13 1491_1493 c.1255_1257delAGC c.(1255-1257)AGCdel p.S419del AFF3_uc002taf.2_In_Frame_Del_p.S444del|AFF3_uc010fiq.1_In_Frame_Del_p.S419del|AFF3_uc010yvr.1_In_Frame_Del_p.S572del|AFF3_uc002tah.1_In_Frame_Del_p.S444del NM_002285 NP_002276 MLPH 79083 broad.mit.edu 37 2 238453147 238453148 + Intron DEL GG - - 2011-2302:2012-314-T g.chr2:238453147_238453148delGG uc002vwt.2 + MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Intron|MLPH_uc002vwu.2_Intron|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Intron|MLPH_uc010fyu.2_Intron NM_024101 NP_077006 PLCB1 23236 broad.mit.edu 37 20 8769226 8769226 + Intron DEL A - - 2011-2302:2012-314-T g.chr20:8769226delA uc002wnb.2 + PLCB1_uc002wna.2_Intron NM_015192 NP_056007 GMEB2 26205 broad.mit.edu 37 20 62241106 62241106 + Intron DEL C - - 2011-2302:2012-314-T g.chr20:62241106delC uc002yfp.1 - GMEB2_uc002yfq.1_Intron NM_012384 NP_036516 TMPRSS6 164656 broad.mit.edu 37 22 37494047 37494048 + Intron INS - G G rs68036712 2011-2302:2012-314-T g.chr22:37494047_37494048insG uc003aqs.1 - TMPRSS6_uc003aqt.1_Intron|TMPRSS6_uc003aqu.2_Intron NM_153609 NP_705837 PARVB 29780 broad.mit.edu 37 22 44550380 44550381 + Intron DEL GT - - rs35627062 2011-2302:2012-314-T g.chr22:44550380_44550381delGT uc003ben.2 + PARVB_uc003bem.2_Intron|PARVB_uc010gzn.2_Intron|PARVB_uc003beo.2_Intron NM_013327 NP_037459 GRK7 131890 broad.mit.edu 37 3 141529170 141529171 + Intron DEL CT - - rs73226680 by1000genomes 2011-2302:2012-314-T g.chr3:141529170_141529171delCT uc011bnd.1 + NM_139209 NP_631948 PCGF3 10336 broad.mit.edu 37 4 708806 708807 + Intron INS - TG TG 2011-2302:2012-314-T g.chr4:708806_708807insTG uc011bva.1 + PCGF3_uc003gbc.1_Intron|PCGF3_uc003gbd.1_Intron|PCGF3_uc003gbe.2_Intron|PCGF3_uc010ibh.2_Intron NM_006315 NP_006306 TERT 7015 broad.mit.edu 37 5 1272722 1272723 + Intron INS - CA CA rs10701000;rs66856825 2011-2302:2012-314-T g.chr5:1272722_1272723insCA uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 TFAP2A 7020 broad.mit.edu 37 6 10415439 10415441 + 5'UTR DEL GAG - - 2011-2302:2012-314-T g.chr6:10415439_10415441delGAG uc003myr.2 - 1 TFAP2A_uc003myq.2_5'Flank|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_5'UTR|TFAP2A_uc003myt.2_Intron|TFAP2A_uc003myu.1_5'UTR|TFAP2A_uc003myv.1_5'Flank|TFAP2A_uc011dii.1_Intron|uc003myw.2_Intron|uc003myx.2_Intron|uc003myy.1_Intron NM_003220 NP_003211 SMOC2 64094 broad.mit.edu 37 6 169000082 169000083 + Intron DEL AC - - 2011-2302:2012-314-T g.chr6:169000082_169000083delAC uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 ADAP1 11033 broad.mit.edu 37 7 945894 945894 + Intron DEL A - - 2011-2302:2012-314-T g.chr7:945894delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 MAD1L1 8379 broad.mit.edu 37 7 2035905 2035906 + Intron INS - C C rs68072290 2011-2302:2012-314-T g.chr7:2035905_2035906insC uc003slh.1 - MAD1L1_uc003sle.1_Intron|MAD1L1_uc003slf.1_Intron|MAD1L1_uc003slg.1_Intron|MAD1L1_uc010ksh.1_Intron|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Intron|MAD1L1_uc010ksj.2_Intron NM_001013836 NP_001013858 ERICH1 157697 broad.mit.edu 37 8 625156 625157 + Intron INS - G G 2011-2302:2012-314-T g.chr8:625156_625157insG uc003wph.2 - ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron|ERICH1_uc003wpi.2_5'Flank NM_207332 NP_997215 OLFM1 10439 broad.mit.edu 37 9 137983597 137983598 + Intron INS - CA CA 2011-2302:2012-314-T g.chr9:137983597_137983598insCA uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfk.3_Intron|OLFM1_uc004cfm.3_Intron NM_014279 NP_055094 EXD3 54932 broad.mit.edu 37 9 140249941 140249942 + Intron INS - A A 2011-2302:2012-314-T g.chr9:140249941_140249942insA uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron|EXD3_uc004cmq.1_Intron|EXD3_uc010ncg.1_Intron NM_017820 NP_060290 GUCA2A 2980 broad.mit.edu 37 1 42632473 42632474 + 5'Flank INS - GT GT rs140638678 by1000genomes 2011-2303:2012-1323-T g.chr1:42632473_42632474insGT uc001chd.1 - NM_033553 NP_291031 BTBD8 284697 broad.mit.edu 37 1 92592063 92592064 + Intron INS - G G rs148177634;rs71311977 by1000genomes 2011-2303:2012-1323-T g.chr1:92592063_92592064insG uc001doo.2 + BTBD8_uc010otc.1_Intron NM_183242 NP_899065 BTBD8 284697 broad.mit.edu 37 1 92592064 92592065 + Intron INS - A A rs71311977 2011-2303:2012-1323-T g.chr1:92592064_92592065insA uc001doo.2 + BTBD8_uc010otc.1_Intron NM_183242 NP_899065 C10orf81 79949 broad.mit.edu 37 10 115541048 115541048 + 3'UTR DEL A - - 2011-2303:2012-1323-T g.chr10:115541048delA uc009xyc.1 + 13 C10orf81_uc001lar.1_3'UTR|C10orf81_uc001las.1_3'UTR|C10orf81_uc001lau.1_3'UTR|C10orf81_uc001lav.2_5'Flank C10orf81 79949 broad.mit.edu 37 10 115541059 115541060 + 3'UTR INS - C C rs66983035 2011-2303:2012-1323-T g.chr10:115541059_115541060insC uc009xyc.1 + 13 C10orf81_uc001lar.1_3'UTR|C10orf81_uc001las.1_3'UTR|C10orf81_uc001lau.1_3'UTR|C10orf81_uc001lav.2_5'Flank C10orf81 79949 broad.mit.edu 37 10 115541171 115541172 + 3'UTR DEL CT - - 2011-2303:2012-1323-T g.chr10:115541171_115541172delCT uc009xyc.1 + 13 C10orf81_uc001lar.1_3'UTR|C10orf81_uc001las.1_3'UTR|C10orf81_uc001lau.1_3'UTR|C10orf81_uc001lav.2_5'Flank TPCN2 219931 broad.mit.edu 37 11 68838579 68838580 + Intron INS - TG TG rs66520477 2011-2303:2012-1323-T g.chr11:68838579_68838580insTG uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_5'Flank NM_139075 NP_620714 TPCN2 219931 broad.mit.edu 37 11 68838582 68838582 + Intron DEL A - - 2011-2303:2012-1323-T g.chr11:68838582delA uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_5'Flank NM_139075 NP_620714 RIMBP2 23504 broad.mit.edu 37 12 131068897 131068898 + Intron INS - CT CT 2011-2303:2012-1323-T g.chr12:131068897_131068898insCT uc001uim.2 - CUL4A 8451 broad.mit.edu 37 13 113886501 113886501 + Intron DEL C - - rs66864899 2011-2303:2012-1323-T g.chr13:113886501delC uc010tjy.1 + CUL4A_uc010tjx.1_Intron|CUL4A_uc010agu.2_Intron|CUL4A_uc001vtl.1_5'Flank NM_001008895 NP_001008895 HYDIN 54768 broad.mit.edu 37 16 71220808 71220808 + 5'UTR DEL T - - 2011-2303:2012-1323-T g.chr16:71220808delT uc002ezr.2 - 2 HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_5'UTR|HYDIN_uc010vmc.1_Frame_Shift_Del_p.K14fs|HYDIN_uc010vmd.1_Frame_Shift_Del_p.K24fs|HYDIN_uc002ezw.3_Frame_Shift_Del_p.K14fs NM_032821 NP_116210 C17orf76 388341 broad.mit.edu 37 17 16359634 16359636 + Intron DEL AGA - - rs62076299 2011-2303:2012-1323-T g.chr17:16359634_16359636delAGA uc010cph.1 - C17orf76_uc002gqh.2_Intron|NCRNA00188_uc010vwl.1_Intron|NCRNA00188_uc010vwm.1_Intron|NCRNA00188_uc010vwn.1_Intron|NCRNA00188_uc010cpe.2_Intron|NCRNA00188_uc010vwo.1_Intron|NCRNA00188_uc010vwp.1_Intron NM_001113567 NP_001107039 BCL2 596 broad.mit.edu 37 18 60866177 60866178 + Intron INS - AG AG 2011-2303:2012-1323-T g.chr18:60866177_60866178insAG uc002lit.1 - BCL2_uc002liu.1_Intron NM_000633 NP_000624 RMND5A 64795 broad.mit.edu 37 2 87623883 87623883 + Intron DEL A - - 2011-2303:2012-1323-T g.chr2:87623883delA uc002srs.3 + GPR35 2859 broad.mit.edu 37 2 241562708 241562708 + Intron DEL T - - 2011-2303:2012-1323-T g.chr2:241562708delT uc010fzh.1 + GPR35_uc010fzi.1_Intron NM_005301 NP_005292 MLC1 23209 broad.mit.edu 37 22 50506156 50506156 + Intron DEL A - - rs67549389 2011-2303:2012-1323-T g.chr22:50506156delA uc003bjg.1 - MLC1_uc011arl.1_Intron|MLC1_uc003bjh.1_Intron|MLC1_uc011arm.1_Intron|MLC1_uc011arn.1_Intron|MLC1_uc011aro.1_Intron NM_139202 NP_631941 CASR 846 broad.mit.edu 37 3 121902343 121902346 + 5'Flank DEL AAAC - - rs10576069 2011-2303:2012-1323-T g.chr3:121902343_121902346delAAAC uc003eev.3 + CASR_uc003eew.3_5'Flank NM_000388 NP_000379 RGS12 6002 broad.mit.edu 37 4 3364474 3364475 + Intron DEL GT - - rs113436382 2011-2303:2012-1323-T g.chr4:3364474_3364475delGT uc003ggw.2 + RGS12_uc003ggu.2_Intron|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Intron|RGS12_uc003ggv.2_Intron|RGS12_uc003ggy.1_Intron NM_198229 NP_937872 CEP72 55722 broad.mit.edu 37 5 648652 648653 + Intron INS - G G rs71781429 2011-2303:2012-1323-T g.chr5:648652_648653insG uc003jbf.2 + NM_018140 NP_060610 HLA-G 3135 broad.mit.edu 37 6 29893550 29893553 + Intron DEL AAAC - - rs145760005;rs1611433 2011-2303:2012-1323-T g.chr6:29893550_29893553delAAAC uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HCG4P6_uc003noh.1_5'Flank|uc003noi.2_5'Flank NM_002127 NP_002118 HLA-B 3106 broad.mit.edu 37 6 31323776 31323777 + Intron INS - C C rs140602404;rs5875313 by1000genomes 2011-2303:2012-1323-T g.chr6:31323776_31323777insC uc003nth.2 - HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Intron|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_RNA|HLA-B_uc010jso.2_3'UTR NM_005514 NP_005505 SYNE1 23345 broad.mit.edu 37 6 152680765 152680766 + Intron DEL GT - - rs112850733 2011-2303:2012-1323-T g.chr6:152680765_152680766delGT uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kja.1_Intron NM_182961 NP_892006 PRKAR1B 5575 broad.mit.edu 37 7 628385 628386 + Intron INS - CAC CAC 2011-2303:2012-1323-T g.chr7:628385_628386insCAC uc003siu.1 - PRKAR1B_uc003siv.2_Intron|PRKAR1B_uc003siw.1_Intron|PRKAR1B_uc003six.1_Intron NM_002735 NP_002726 BRAF 673 broad.mit.edu 37 7 140434620 140434621 + Intron INS - AAAG AAAG rs145368076 by1000genomes 2011-2303:2012-1323-T g.chr7:140434620_140434621insAAAG uc003vwc.3 - NM_004333 NP_004324 PTPRN2 5799 broad.mit.edu 37 7 158112342 158112343 + Intron DEL CA - - rs5888750 2011-2303:2012-1323-T g.chr7:158112342_158112343delCA uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158317053 158317055 + Intron DEL TCA - - rs10551720;rs113684811 by1000genomes 2011-2303:2012-1323-T g.chr7:158317053_158317055delTCA uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 TOP1MT 116447 broad.mit.edu 37 8 144404078 144404081 + Intron DEL ACAG - - 2011-2303:2012-1323-T g.chr8:144404078_144404081delACAG uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 TOP1MT 116447 broad.mit.edu 37 8 144404103 144404104 + Intron DEL CA - - 2011-2303:2012-1323-T g.chr8:144404103_144404104delCA uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 POMT1 10585 broad.mit.edu 37 9 134391171 134391174 + Intron DEL GTAA - - rs113878457;rs150484413;rs143650925 by1000genomes 2011-2303:2012-1323-T g.chr9:134391171_134391174delGTAA uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 POMT1 10585 broad.mit.edu 37 9 134391317 134391317 + Intron DEL G - - rs75256542 2011-2303:2012-1323-T g.chr9:134391317delG uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 POMT1 10585 broad.mit.edu 37 9 134391321 134391321 + Intron DEL G - - 2011-2303:2012-1323-T g.chr9:134391321delG uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 TSC1 7248 broad.mit.edu 37 9 135773001 135773001 + Intron DEL A - - rs33939817 2011-2303:2012-1323-T g.chr9:135773001delA uc004cca.2 - TSC1_uc004ccb.3_Intron|TSC1_uc011mcq.1_Intron|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 LOC200030 200030 broad.mit.edu 37 1 148004891 148004891 + Intron DEL A - - 2011-2304:2012-319-T g.chr1:148004891delA uc001eqf.2 - LOC200030_uc010ozz.1_Intron|LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqq.2_Intron NM_017940 NP_060410 LHPP 64077 broad.mit.edu 37 10 126226788 126226788 + Intron DEL C - - rs66497940 2011-2304:2012-319-T g.chr10:126226788delC uc001lhs.1 + LHPP_uc001lht.1_Intron|LHPP_uc009yai.1_Intron NM_022126 NP_071409 CALY 50632 broad.mit.edu 37 10 135147527 135147527 + Intron DEL G - - 2011-2304:2012-319-T g.chr10:135147527delG uc001lmo.2 - NM_015722 NP_056537 ACACB 32 broad.mit.edu 37 12 109685344 109685345 + Intron INS - A A rs144291284 by1000genomes 2011-2304:2012-319-T g.chr12:109685344_109685345insA uc001tob.2 + ACACB_uc001toc.2_Intron|ACACB_uc010sxl.1_Intron|ACACB_uc001tod.2_Intron|ACACB_uc010sxm.1_Intron NM_001093 NP_001084 LMF1 64788 broad.mit.edu 37 16 1011225 1011226 + Intron DEL AC - - 2011-2304:2012-319-T g.chr16:1011225_1011226delAC uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 RFX2 5990 broad.mit.edu 37 19 6070210 6070210 + Intron DEL T - - 2011-2304:2012-319-T g.chr19:6070210delT uc002meb.2 - RFX2_uc002mec.2_Intron|RFX2_uc010xiy.1_Intron NM_000635 NP_000626 BCL11A 53335 broad.mit.edu 37 2 60694451 60694453 + Intron DEL TGG - - 2011-2304:2012-319-T g.chr2:60694451_60694453delTGG uc002sae.1 - BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Intron|BCL11A_uc002sad.1_Intron|BCL11A_uc002saf.1_Intron NM_022893 NP_075044 COL18A1 80781 broad.mit.edu 37 21 46903911 46903912 + Intron DEL CA - - rs72371129 2011-2304:2012-319-T g.chr21:46903911_46903912delCA uc011afs.1 + COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Intron NM_130444 NP_569711 MPPED1 758 broad.mit.edu 37 22 43828768 43828768 + Intron DEL A - - 2011-2304:2012-319-T g.chr22:43828768delA uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 PRR5 55615 broad.mit.edu 37 22 45081456 45081457 + Intron INS - C C 2011-2304:2012-319-T g.chr22:45081456_45081457insC uc010gzt.1 + PRR5_uc003bew.1_Intron|PRR5_uc003bex.1_Intron|PRR5_uc010gzu.1_Intron|PRR5_uc003bey.1_Intron|PRR5_uc003bez.1_Intron NM_001017530 NP_001017530 LPCAT1 79888 broad.mit.edu 37 5 1464801 1464802 + Intron DEL AC - - 2011-2304:2012-319-T g.chr5:1464801_1464802delAC uc003jcm.2 - LPCAT1_uc003jcl.2_Intron NM_024830 NP_079106 TRIO 7204 broad.mit.edu 37 5 14403490 14403491 + Intron INS - CTT CTT 2011-2304:2012-319-T g.chr5:14403490_14403491insCTT uc003jff.2 + TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Intron NM_007118 NP_009049 AOAH 313 broad.mit.edu 37 7 36555083 36555083 + Intron DEL C - - 2011-2304:2012-319-T g.chr7:36555083delC uc003tfh.3 - AOAH_uc010kxf.2_Intron|AOAH_uc011kba.1_Intron NM_001637 NP_001628 RIMS2 9699 broad.mit.edu 37 8 104922519 104922520 + Intron INS - T T rs112118632 2011-2304:2012-319-T g.chr8:104922519_104922520insT uc003yls.2 + RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Intron|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank NM_014677 NP_055492 SHOX 6473 broad.mit.edu 37 X 583426 583427 + 5'Flank DEL AG - - 2011-2304:2012-319-T g.chrX:583426_583427delAG uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 LGR6 59352 broad.mit.edu 37 1 202174498 202174509 + Intron DEL ACACACACACCT - - rs150017503;rs141873830;rs138471820 2011-2305:2012-313-T g.chr1:202174498_202174509delACACACACACCT uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 LGR6 59352 broad.mit.edu 37 1 202174525 202174526 + Intron INS - AC AC 2011-2305:2012-313-T g.chr1:202174525_202174526insAC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 IDI1 3422 broad.mit.edu 37 10 1092917 1092917 + Intron DEL T - - 2011-2305:2012-313-T g.chr10:1092917delT uc001iga.2 - IDI1_uc001ifz.2_5'Flank|IDI1_uc001igb.2_Intron|IDI1_uc001igc.2_Intron|uc001igd.2_5'Flank NM_004508 NP_004499 KNDC1 85442 broad.mit.edu 37 10 135022782 135022783 + Intron INS - GTGTG GTGTG rs142306215;rs71951226 by1000genomes 2011-2305:2012-313-T g.chr10:135022782_135022783insGTGTG uc001llz.1 + NM_152643 NP_689856 BRSK2 9024 broad.mit.edu 37 11 1430010 1430013 + Intron DEL TGGC - - rs112616926;rs56958929;rs144527251 2011-2305:2012-313-T g.chr11:1430010_1430013delTGGC uc001lti.2 + BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001ltj.2_Intron|BRSK2_uc001ltk.2_Intron|BRSK2_uc001ltl.2_Intron|BRSK2_uc001ltm.2_5'Flank NM_003957 NP_003948 SLC22A12 116085 broad.mit.edu 37 11 64363763 64363765 + Intron DEL GCT - - rs61884371 2011-2305:2012-313-T g.chr11:64363763_64363765delGCT uc001oam.1 + SLC22A12_uc009ypr.1_Intron|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.2_Intron NM_144585 NP_653186 SLC22A12 116085 broad.mit.edu 37 11 64363776 64363779 + Intron DEL TTGA - - 2011-2305:2012-313-T g.chr11:64363776_64363779delTTGA uc001oam.1 + SLC22A12_uc009ypr.1_Intron|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.2_Intron NM_144585 NP_653186 SLC22A12 116085 broad.mit.edu 37 11 64363787 64363789 + Intron DEL GTT - - 2011-2305:2012-313-T g.chr11:64363787_64363789delGTT uc001oam.1 + SLC22A12_uc009ypr.1_Intron|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.2_Intron NM_144585 NP_653186 TFDP1 7027 broad.mit.edu 37 13 114267941 114267942 + Intron INS - GT GT rs149372254;rs66526475 by1000genomes 2011-2305:2012-313-T g.chr13:114267941_114267942insGT uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 BCAR1 9564 broad.mit.edu 37 16 75267995 75267996 + Intron DEL AC - - rs112392504 2011-2305:2012-313-T g.chr16:75267995_75267996delAC uc002fdv.2 - BCAR1_uc002fdt.2_Intron|BCAR1_uc002fdu.2_Intron|BCAR1_uc010cgu.2_Intron|BCAR1_uc010vna.1_Intron|BCAR1_uc010vnb.1_Intron|BCAR1_uc002fdw.2_Intron|BCAR1_uc010vnc.1_Intron|BCAR1_uc010vnd.1_Intron|BCAR1_uc002fdx.2_Intron NM_014567 NP_055382 KLHDC4 54758 broad.mit.edu 37 16 87772628 87772631 + Intron DEL CATC - - 2011-2305:2012-313-T g.chr16:87772628_87772631delCATC uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 RPH3AL 9501 broad.mit.edu 37 17 137106 137107 + Intron INS - CT CT 2011-2305:2012-313-T g.chr17:137106_137107insCT uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 ABR 29 broad.mit.edu 37 17 912447 912447 + Intron DEL A - - 2011-2305:2012-313-T g.chr17:912447delA uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010vqf.1_Intron|ABR_uc010vqg.1_Intron|ABR_uc002fsg.2_Intron|ABR_uc002fsf.2_Intron NM_021962 NP_068781 ABR 29 broad.mit.edu 37 17 1021854 1021855 + Intron INS - C C rs71358535 2011-2305:2012-313-T g.chr17:1021854_1021855insC uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 FOXK2 3607 broad.mit.edu 37 17 80544180 80544180 + Intron DEL C - - rs66791901 2011-2305:2012-313-T g.chr17:80544180delC uc002kfn.2 + FOXK2_uc002kfm.1_Intron|FOXK2_uc010diu.2_Intron NM_004514 NP_004505 BCL2 596 broad.mit.edu 37 18 60885864 60885865 + Intron INS - TCC TCC 2011-2305:2012-313-T g.chr18:60885864_60885865insTCC uc002lit.1 - BCL2_uc002liu.1_Intron NM_000633 NP_000624 INSR 3643 broad.mit.edu 37 19 7153059 7153060 + Intron INS - A A 2011-2305:2012-313-T g.chr19:7153059_7153060insA uc002mgd.1 - INSR_uc002mge.1_Intron|INSR_uc002mgf.2_Intron NM_000208 NP_000199 INSR 3643 broad.mit.edu 37 19 7153070 7153070 + Intron DEL A - - 2011-2305:2012-313-T g.chr19:7153070delA uc002mgd.1 - INSR_uc002mge.1_Intron|INSR_uc002mgf.2_Intron NM_000208 NP_000199 UNC13A 23025 broad.mit.edu 37 19 17740723 17740723 + Intron DEL C - - 2011-2305:2012-313-T g.chr19:17740723delC uc002nhd.2 - NM_001080421 NP_001073890 UNC13A 23025 broad.mit.edu 37 19 17740727 17740731 + Intron DEL AACCC - - rs77536659;rs143960262 by1000genomes 2011-2305:2012-313-T g.chr19:17740727_17740731delAACCC uc002nhd.2 - NM_001080421 NP_001073890 PXDN 7837 broad.mit.edu 37 2 1707383 1707383 + Intron DEL A - - rs78526478 2011-2305:2012-313-T g.chr2:1707383delA uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 TSSC1 7260 broad.mit.edu 37 2 3203751 3203751 + Intron DEL T - - 2011-2305:2012-313-T g.chr2:3203751delT uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 RAB3GAP1 22930 broad.mit.edu 37 2 135875087 135875092 + Intron DEL CTTCTG - - rs62170226 by1000genomes 2011-2305:2012-313-T g.chr2:135875087_135875092delCTTCTG uc002tuj.2 + RAB3GAP1_uc010fnf.2_Intron|RAB3GAP1_uc010fng.2_Intron|RAB3GAP1_uc010fnh.1_Intron NM_012233 NP_036365 AGXT 189 broad.mit.edu 37 2 241811740 241811742 + Intron DEL GGA - - rs72418025;rs4991354 by1000genomes 2011-2305:2012-313-T g.chr2:241811740_241811742delGGA uc002waa.3 + AGXT_uc010zoi.1_Intron NM_000030 NP_000021 BMP7 655 broad.mit.edu 37 20 55794237 55794240 + Intron DEL TGTT - - 2011-2305:2012-313-T g.chr20:55794237_55794240delTGTT uc010gip.1 - BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Intron NM_001719 NP_001710 BMP7 655 broad.mit.edu 37 20 55794255 55794257 + Intron DEL TGG - - 2011-2305:2012-313-T g.chr20:55794255_55794257delTGG uc010gip.1 - BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Intron NM_001719 NP_001710 OPRL1 4987 broad.mit.edu 37 20 62728229 62728231 + Intron DEL CAT - - rs144823897 2011-2305:2012-313-T g.chr20:62728229_62728231delCAT uc002yic.2 + OPRL1_uc002yid.2_Intron|OPRL1_uc002yif.3_Intron NM_182647 NP_872588 DSCAM 1826 broad.mit.edu 37 21 41658726 41658727 + Intron DEL TG - - 2011-2305:2012-313-T g.chr21:41658726_41658727delTG uc002yyq.1 - DSCAM_uc002yyr.1_Intron NM_001389 NP_001380 DSCAM 1826 broad.mit.edu 37 21 41658728 41658729 + Intron INS - A A 2011-2305:2012-313-T g.chr21:41658728_41658729insA uc002yyq.1 - DSCAM_uc002yyr.1_Intron NM_001389 NP_001380 DSCAM 1826 broad.mit.edu 37 21 41658732 41658733 + Intron INS - GTG GTG 2011-2305:2012-313-T g.chr21:41658732_41658733insGTG uc002yyq.1 - DSCAM_uc002yyr.1_Intron NM_001389 NP_001380 TFRC 7037 broad.mit.edu 37 3 195792289 195792291 + Intron DEL GGG - - rs67752813 2011-2305:2012-313-T g.chr3:195792289_195792291delGGG uc003fvz.3 - TFRC_uc003fwa.3_Intron|TFRC_uc010hzy.2_Intron|TFRC_uc011btr.1_Intron NM_003234 NP_003225 FAM53A 152877 broad.mit.edu 37 4 1651748 1651751 + Intron DEL TGAC - - 2011-2305:2012-313-T g.chr4:1651748_1651751delTGAC uc011bve.1 - FAM53A_uc010ibw.2_Intron NM_001013622 NP_001013644 CEP72 55722 broad.mit.edu 37 5 650334 650335 + Intron DEL TG - - 2011-2305:2012-313-T g.chr5:650334_650335delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650518 650519 + Intron INS - G G 2011-2305:2012-313-T g.chr5:650518_650519insG uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1070705 1070705 + Intron DEL G - - 2011-2305:2012-313-T g.chr5:1070705delG uc003jbu.2 - NM_006598 NP_006589 MEF2C 4208 broad.mit.edu 37 5 88120079 88120080 + Intron INS - CT CT rs138032942;rs145284455 by1000genomes 2011-2305:2012-313-T g.chr5:88120079_88120080insCT uc003kjj.2 - MEF2C_uc003kji.2_5'Flank|MEF2C_uc003kjk.2_Intron|MEF2C_uc003kjm.2_Intron|MEF2C_uc003kjl.2_Intron NM_002397 NP_002388 ADAMTS2 9509 broad.mit.edu 37 5 178562060 178562072 + Intron DEL CCAGCTCCCGGGT - - 2011-2305:2012-313-T g.chr5:178562060_178562072delCCAGCTCCCGGGT uc003mjw.2 - NM_014244 NP_055059 ADAMTS2 9509 broad.mit.edu 37 5 178562072 178562073 + Intron INS - CCAGCTC CCAGCTC 2011-2305:2012-313-T g.chr5:178562072_178562073insCCAGCTC uc003mjw.2 - NM_014244 NP_055059 SMOC2 64094 broad.mit.edu 37 6 168990356 168990357 + Intron INS - C C 2011-2305:2012-313-T g.chr6:168990356_168990357insC uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 ADAP1 11033 broad.mit.edu 37 7 982216 982217 + Intron DEL GA - - 2011-2305:2012-313-T g.chr7:982216_982217delGA uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PTPRN2 5799 broad.mit.edu 37 7 158055367 158055368 + Intron DEL CA - - 2011-2305:2012-313-T g.chr7:158055367_158055368delCA uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ERICH1 157697 broad.mit.edu 37 8 625815 625815 + Intron DEL G - - 2011-2305:2012-313-T g.chr8:625815delG uc003wph.2 - ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron|ERICH1_uc003wpi.2_5'Flank NM_207332 NP_997215 TOP1MT 116447 broad.mit.edu 37 8 144404078 144404081 + Intron DEL ACAG - - 2011-2305:2012-313-T g.chr8:144404078_144404081delACAG uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 RALGDS 5900 broad.mit.edu 37 9 135999262 135999263 + 5'Flank DEL CA - - 2011-2305:2012-313-T g.chr9:135999262_135999263delCA uc004cco.2 - RALGDS_uc004ccp.2_5'Flank|RALGDS_uc004ccq.2_5'Flank|RALGDS_uc004ccr.2_Intron|RALGDS_uc011mcv.1_Intron|RALGDS_uc004ccs.2_Intron|RALGDS_uc011mcw.1_Intron NM_006266 NP_006257 SHOX 6473 broad.mit.edu 37 X 583543 583544 + 5'Flank INS - GAG GAG 2011-2305:2012-313-T g.chrX:583543_583544insGAG uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 SHOX 6473 broad.mit.edu 37 X 583549 583550 + 5'Flank DEL AG - - 2011-2305:2012-313-T g.chrX:583549_583550delAG uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 SHOX 6473 broad.mit.edu 37 X 583912 583913 + 5'Flank INS - G G 2011-2305:2012-313-T g.chrX:583912_583913insG uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 PRDM16 63976 broad.mit.edu 37 1 3030991 3030992 + Intron INS - G G rs142220406;rs150992402 by1000genomes 2011-2306:2012-1324-T g.chr1:3030991_3030992insG uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 ASH1L 55870 broad.mit.edu 37 1 155330238 155330238 + Intron DEL T - - 2011-2306:2012-1324-T g.chr1:155330238delT uc009wqq.2 - RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Intron NM_018489 NP_060959 USH2A 7399 broad.mit.edu 37 1 215931923 215931923 + Intron DEL T - - 2011-2306:2012-1324-T g.chr1:215931923delT uc001hku.1 - NM_206933 NP_996816 INPP5A 3632 broad.mit.edu 37 10 134577161 134577162 + Intron DEL AT - - rs10534980;rs76083849 2011-2306:2012-1324-T g.chr10:134577161_134577162delAT uc001llp.2 + INPP5A_uc001llo.1_Intron|INPP5A_uc001llq.2_Intron NM_005539 NP_005530 TSPAN9 10867 broad.mit.edu 37 12 3307852 3307858 + Intron DEL CACAGGT - - rs72071043 2011-2306:2012-1324-T g.chr12:3307852_3307858delCACAGGT uc001qlp.2 + NM_006675 NP_006666 TP53 7157 broad.mit.edu 37 17 7579311 7579311 + Splice_Site DEL C - - 2011-2306:2012-1324-T g.chr17:7579311delC uc002gim.2 - 4 569 c.375_splice c.e4+1 p.T125_splice TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice NM_001126112 NP_001119584 NLRP4 147945 broad.mit.edu 37 19 56348142 56348143 + 5'UTR INS - TT TT rs144237697;rs35397971 by1000genomes 2011-2306:2012-1324-T g.chr19:56348142_56348143insTT uc002qmd.3 + 1 NLRP11_uc010ygf.1_5'Flank|NLRP11_uc002qmc.2_5'Flank|NLRP11_uc010ete.1_5'Flank NM_134444 NP_604393 CNNM4 26504 broad.mit.edu 37 2 97467461 97467462 + Intron INS - AG AG rs140663291 by1000genomes 2011-2306:2012-1324-T g.chr2:97467461_97467462insAG uc002swx.2 + CNNM4_uc010yuy.1_Intron NM_020184 NP_064569 CHST13 166012 broad.mit.edu 37 3 126258832 126258833 + Intron DEL AC - - 2011-2306:2012-1324-T g.chr3:126258832_126258833delAC uc003eja.2 + NM_152889 NP_690849 LOC200030 200030 broad.mit.edu 37 1 148004891 148004891 + Intron DEL A - - 2011-2307:2012-1335-T g.chr1:148004891delA uc001eqf.2 - LOC200030_uc010ozz.1_Intron|LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqq.2_Intron NM_017940 NP_060410 ABL2 27 broad.mit.edu 37 1 179091051 179091054 + Intron DEL TTTT - - rs35474314 2011-2307:2012-1335-T g.chr1:179091051_179091054delTTTT uc001gmj.3 - ABL2_uc010pnf.1_Intron|ABL2_uc010png.1_Intron|ABL2_uc010pnh.1_Intron|ABL2_uc009wxe.2_Intron|ABL2_uc001gmg.3_Intron|ABL2_uc001gmi.3_Intron|ABL2_uc001gmh.3_Intron|ABL2_uc010pne.1_Intron|ABL2_uc009wxf.1_Intron|ABL2_uc001gmk.2_Intron NM_007314 NP_009298 FOXI2 399823 broad.mit.edu 37 10 129538360 129538361 + 3'UTR INS - GA GA rs11018304 by1000genomes 2011-2307:2012-1335-T g.chr10:129538360_129538361insGA uc009yas.2 + 2 NM_207426 NP_997309 ODF3 113746 broad.mit.edu 37 11 196482 196483 + 5'Flank INS - A A rs113228320 2011-2307:2012-1335-T g.chr11:196482_196483insA uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 ODF3 113746 broad.mit.edu 37 11 196489 196490 + 5'Flank INS - T T rs113039770 2011-2307:2012-1335-T g.chr11:196489_196490insT uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 ODF3 113746 broad.mit.edu 37 11 196494 196495 + 5'Flank INS - G G 2011-2307:2012-1335-T g.chr11:196494_196495insG uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 PCCA 5095 broad.mit.edu 37 13 101104156 101104158 + Intron DEL CTC - - rs138605680 2011-2307:2012-1335-T g.chr13:101104156_101104158delCTC uc001voo.2 + PCCA_uc010aga.2_Intron|PCCA_uc010tiz.1_Intron|PCCA_uc001vop.2_Intron NM_000282 NP_000273 SERPINA12 145264 broad.mit.edu 37 14 94986268 94986269 + 5'Flank INS - TGC TGC 2011-2307:2012-1335-T g.chr14:94986268_94986269insTGC uc001ydj.2 - NM_173850 NP_776249 INF2 64423 broad.mit.edu 37 14 105187090 105187091 + Intron INS - C C 2011-2307:2012-1335-T g.chr14:105187090_105187091insC uc010tyi.1 + NM_022489 NP_071934 KLHDC4 54758 broad.mit.edu 37 16 87772516 87772519 + Intron DEL CCAC - - 2011-2307:2012-1335-T g.chr16:87772516_87772519delCCAC uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 ABR 29 broad.mit.edu 37 17 1021854 1021855 + Intron INS - C C rs71358535 2011-2307:2012-1335-T g.chr17:1021854_1021855insC uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 NTN1 9423 broad.mit.edu 37 17 9132344 9132345 + Intron DEL TG - - rs10551762 2011-2307:2012-1335-T g.chr17:9132344_9132345delTG uc002glw.3 + NM_004822 NP_004813 RAB40B 10966 broad.mit.edu 37 17 80629981 80629981 + Intron DEL T - - rs11323271 2011-2307:2012-1335-T g.chr17:80629981delT uc002kft.2 - RAB40B_uc002kfs.2_Intron NM_006822 NP_006813 NOTCH3 4854 broad.mit.edu 37 19 15273600 15273605 + Intron DEL GTGTGC - - rs4019573;rs757473 by1000genomes 2011-2307:2012-1335-T g.chr19:15273600_15273605delGTGTGC uc002nan.2 - NM_000435 NP_000426 PXDN 7837 broad.mit.edu 37 2 1707823 1707824 + Intron INS - G G 2011-2307:2012-1335-T g.chr2:1707823_1707824insG uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 MYT1L 23040 broad.mit.edu 37 2 2184370 2184371 + Intron INS - TG TG rs146382891 by1000genomes 2011-2307:2012-1335-T g.chr2:2184370_2184371insTG uc002qxe.2 - MYT1L_uc002qxd.2_Intron NM_015025 NP_055840 MLPH 79083 broad.mit.edu 37 2 238453808 238453809 + Intron INS - A A rs141663253 by1000genomes 2011-2307:2012-1335-T g.chr2:238453808_238453809insA uc002vwt.2 + MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Intron|MLPH_uc002vwu.2_Intron|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Intron|MLPH_uc010fyu.2_Intron NM_024101 NP_077006 MLPH 79083 broad.mit.edu 37 2 238453827 238453827 + Intron DEL A - - rs36129181 2011-2307:2012-1335-T g.chr2:238453827delA uc002vwt.2 + MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Intron|MLPH_uc002vwu.2_Intron|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Intron|MLPH_uc010fyu.2_Intron NM_024101 NP_077006 AGPAT3 56894 broad.mit.edu 37 21 45337928 45337928 + Intron DEL G - - 2011-2307:2012-1335-T g.chr21:45337928delG uc002zdv.2 + NM_020132 NP_064517 FAM53A 152877 broad.mit.edu 37 4 1668111 1668112 + Intron DEL CT - - 2011-2307:2012-1335-T g.chr4:1668111_1668112delCT uc011bve.1 - FAM53A_uc010ibw.2_Intron NM_001013622 NP_001013644 NKD2 85409 broad.mit.edu 37 5 1026147 1026148 + Intron INS - A A rs66703602 2011-2307:2012-1335-T g.chr5:1026147_1026148insA uc003jbt.1 + NKD2_uc010itf.1_Intron NM_033120 NP_149111 TRIO 7204 broad.mit.edu 37 5 14402666 14402666 + Intron DEL G - - 2011-2307:2012-1335-T g.chr5:14402666delG uc003jff.2 + TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Intron NM_007118 NP_009049 RIOK2 55781 broad.mit.edu 37 5 96514501 96514501 + Intron DEL T - - 2011-2307:2012-1335-T g.chr5:96514501delT uc003kmz.2 - RIOK2_uc003kna.3_Intron NM_018343 NP_060813 RNF130 55819 broad.mit.edu 37 5 179442562 179442563 + Intron INS - A A 2011-2307:2012-1335-T g.chr5:179442562_179442563insA uc003mll.1 - RNF130_uc003mlm.1_Intron|MIR340_hsa-mir-340|MI0000802_5'Flank|uc003mln.2_5'Flank NM_018434 NP_060904 RNF130 55819 broad.mit.edu 37 5 179442571 179442571 + Intron DEL G - - 2011-2307:2012-1335-T g.chr5:179442571delG uc003mll.1 - RNF130_uc003mlm.1_Intron|MIR340_hsa-mir-340|MI0000802_5'Flank|uc003mln.2_5'Flank NM_018434 NP_060904 PSMB1 5689 broad.mit.edu 37 6 170804652 170804654 + Intron DEL GAG - - 2011-2307:2012-1335-T g.chr6:170804652_170804654delGAG uc003qxq.2 - NM_002793 ADAP1 11033 broad.mit.edu 37 7 945758 945758 + Intron DEL G - - 2011-2307:2012-1335-T g.chr7:945758delG uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 982890 982891 + Intron DEL GG - - 2011-2307:2012-1335-T g.chr7:982890_982891delGG uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 982936 982938 + Intron DEL GAC - - rs139903029 by1000genomes 2011-2307:2012-1335-T g.chr7:982936_982938delGAC uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 SDK1 221935 broad.mit.edu 37 7 4082946 4082947 + Intron INS - GT GT rs138118628;rs72333695 by1000genomes 2011-2307:2012-1335-T g.chr7:4082946_4082947insGT uc003smx.2 + SDK1_uc010kso.2_Intron NM_152744 NP_689957 AOAH 313 broad.mit.edu 37 7 36555028 36555029 + Intron INS - A A 2011-2307:2012-1335-T g.chr7:36555028_36555029insA uc003tfh.3 - AOAH_uc010kxf.2_Intron|AOAH_uc011kba.1_Intron NM_001637 NP_001628 PLXNA4 91584 broad.mit.edu 37 7 132248742 132248744 + Intron DEL CTC - - 2011-2307:2012-1335-T g.chr7:132248742_132248744delCTC uc003vra.3 - PLXNA4_uc003vrc.2_Intron|PLXNA4_uc003vrb.2_Intron NM_020911 NP_065962 COL22A1 169044 broad.mit.edu 37 8 139818318 139818318 + Intron DEL A - - 2011-2307:2012-1335-T g.chr8:139818318delA uc003yvd.2 - NM_152888 NP_690848 POMT1 10585 broad.mit.edu 37 9 134391171 134391174 + Intron DEL GTAA - - rs113878457;rs150484413;rs143650925 by1000genomes 2011-2307:2012-1335-T g.chr9:134391171_134391174delGTAA uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 POMT1 10585 broad.mit.edu 37 9 134391178 134391179 + Intron INS - C C 2011-2307:2012-1335-T g.chr9:134391178_134391179insC uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 POMT1 10585 broad.mit.edu 37 9 134391181 134391182 + Intron INS - G G 2011-2307:2012-1335-T g.chr9:134391181_134391182insG uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 POMT1 10585 broad.mit.edu 37 9 134391190 134391191 + Intron INS - TA TA 2011-2307:2012-1335-T g.chr9:134391190_134391191insTA uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 PPP2R3B 28227 broad.mit.edu 37 X 314506 314509 + Intron DEL CACC - - 2011-2307:2012-1335-T g.chrX:314506_314509delCACC uc004cpg.2 - PPP2R3B_uc011mha.1_Intron NM_013239 NP_037371 STARD8 9754 broad.mit.edu 37 X 67873119 67873119 + Intron DEL C - - 2011-2307:2012-1335-T g.chrX:67873119delC uc004dxa.2 + STARD8_uc004dxb.2_Intron NM_014725 NP_055540 SYT2 127833 broad.mit.edu 37 1 202594066 202594067 + Intron INS - G G rs148638021 2011-2309:2012-318-T g.chr1:202594066_202594067insG uc001gye.2 - SYT2_uc010pqb.1_Intron|SYT2_uc009xaf.2_Intron NM_001136504 NP_001129976 SYT2 127833 broad.mit.edu 37 1 202594067 202594068 + Intron INS - C C rs148638021 2011-2309:2012-318-T g.chr1:202594067_202594068insC uc001gye.2 - SYT2_uc010pqb.1_Intron|SYT2_uc009xaf.2_Intron NM_001136504 NP_001129976 FAIM3 9214 broad.mit.edu 37 1 207098016 207098019 + 5'Flank DEL CTCT - - 2011-2309:2012-318-T g.chr1:207098016_207098019delCTCT uc001hey.2 - FAIM3_uc010prz.1_5'Flank|FAIM3_uc010psa.1_5'Flank|FAIM3_uc010psb.1_5'Flank NM_005449 NP_005440 FMN2 56776 broad.mit.edu 37 1 240348333 240348333 + Intron DEL C - - rs66890903 2011-2309:2012-318-T g.chr1:240348333delC uc010pyd.1 + FMN2_uc010pye.1_Intron NM_020066 NP_064450 RAB5B 5869 broad.mit.edu 37 12 56366867 56366868 + 5'Flank INS - ATAT ATAT 2011-2309:2012-318-T g.chr12:56366867_56366868insATAT uc001siv.2 + RAB5B_uc001siw.2_5'Flank|RAB5B_uc009zog.2_5'Flank|RAB5B_uc010spz.1_5'Flank NM_002868 NP_002859 CBFA2T3 863 broad.mit.edu 37 16 88959708 88959708 + Intron DEL C - - 2011-2309:2012-318-T g.chr16:88959708delC uc002fmm.1 - CBFA2T3_uc002fml.1_Intron|CBFA2T3_uc010cif.1_Intron|CBFA2T3_uc002fmn.1_Intron NM_005187 NP_005178 RPH3AL 9501 broad.mit.edu 37 17 136731 136732 + Intron DEL CT - - rs71863097 2011-2309:2012-318-T g.chr17:136731_136732delCT uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 ABR 29 broad.mit.edu 37 17 1020647 1020648 + Intron INS - C C 2011-2309:2012-318-T g.chr17:1020647_1020648insC uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 ABR 29 broad.mit.edu 37 17 1021042 1021043 + Intron INS - T T rs66551865 2011-2309:2012-318-T g.chr17:1021042_1021043insT uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 MED16 10025 broad.mit.edu 37 19 876897 876898 + Intron INS - C C 2011-2309:2012-318-T g.chr19:876897_876898insC uc002lqd.1 - MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Intron|MED16_uc002lqf.2_Intron|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron NM_005481 NP_005472 SBNO2 22904 broad.mit.edu 37 19 1164574 1164575 + Intron INS - A A 2011-2309:2012-318-T g.chr19:1164574_1164575insA uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 PXDN 7837 broad.mit.edu 37 2 1724161 1724162 + Intron DEL AG - - 2011-2309:2012-318-T g.chr2:1724161_1724162delAG uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 RMND5A 64795 broad.mit.edu 37 2 87625949 87625949 + Intron DEL A - - 2011-2309:2012-318-T g.chr2:87625949delA uc002srs.3 + GLI2 2736 broad.mit.edu 37 2 121721014 121721015 + Intron DEL TG - - 2011-2309:2012-318-T g.chr2:121721014_121721015delTG uc010flp.2 + GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Intron NM_005270 NP_005261 NFE2L2 4780 broad.mit.edu 37 2 178129391 178129393 + 5'UTR DEL GGC - - 2011-2309:2012-318-T g.chr2:178129391_178129393delGGC uc002ulh.3 - 1 NFE2L2_uc002ulg.3_5'Flank|NFE2L2_uc010zfa.1_5'Flank|NFE2L2_uc002uli.3_Intron|NFE2L2_uc010fra.2_5'Flank|NFE2L2_uc010frb.2_5'Flank NM_006164 NP_006155 ESPNL 339768 broad.mit.edu 37 2 239034869 239034870 + Intron INS - TGTG TGTG rs11903243;rs67490380 byFrequency;by1000genomes 2011-2309:2012-318-T g.chr2:239034869_239034870insTGTG uc002vxq.3 + ESPNL_uc010fyw.2_Intron NM_194312 NP_919288 RIN2 54453 broad.mit.edu 37 20 19904994 19904995 + Intron DEL CT - - 2011-2309:2012-318-T g.chr20:19904994_19904995delCT uc002wro.1 + RIN2_uc010gcu.1_Intron NM_018993 NP_061866 ADARB1 104 broad.mit.edu 37 21 46529242 46529243 + Intron DEL TA - - rs140518083 by1000genomes 2011-2309:2012-318-T g.chr21:46529242_46529243delTA uc002zgy.2 + ADARB1_uc002zgp.2_Intron|ADARB1_uc002zgr.2_Intron|ADARB1_uc002zgs.2_Intron|ADARB1_uc002zgw.2_Intron|ADARB1_uc002zgv.2_Intron|ADARB1_uc002zgt.2_Intron|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_Intron|ADARB1_uc002zgu.2_Intron NM_015833 NP_056648 IL17RA 23765 broad.mit.edu 37 22 17584922 17584923 + Intron DEL GT - - rs13054229 2011-2309:2012-318-T g.chr22:17584922_17584923delGT uc002zly.2 + IL17RA_uc010gqt.2_Intron NM_014339 NP_055154 MUSTN1 389125 broad.mit.edu 37 3 52866685 52866685 + Intron DEL T - - rs11313924 2011-2309:2012-318-T g.chr3:52866685delT uc010hmq.1 - ITIH4_uc011bem.1_5'Flank|ITIH4_uc011ben.1_5'Flank|ITIH4_uc003dfz.2_5'Flank|ITIH4_uc010hmp.1_5'Flank CACNA1D 776 broad.mit.edu 37 3 53839906 53839907 + Intron DEL CT - - 2011-2309:2012-318-T g.chr3:53839906_53839907delCT uc003dgv.3 + CACNA1D_uc003dgu.3_Intron|CACNA1D_uc003dgy.3_Intron|CACNA1D_uc003dgw.3_Intron|CACNA1D_uc011bes.1_Intron NM_001128840 NP_001122312 BST1 683 broad.mit.edu 37 4 15705614 15705615 + Intron DEL TG - - 2011-2309:2012-318-T g.chr4:15705614_15705615delTG uc003goh.3 + NM_004334 NP_004325 SLC12A7 10723 broad.mit.edu 37 5 1070705 1070705 + Intron DEL G - - 2011-2309:2012-318-T g.chr5:1070705delG uc003jbu.2 - NM_006598 NP_006589 SLC12A7 10723 broad.mit.edu 37 5 1070721 1070722 + Intron INS - AGCCCCCAGTG AGCCCCCAGTG 2011-2309:2012-318-T g.chr5:1070721_1070722insAGCCCCCAGTG uc003jbu.2 - NM_006598 NP_006589 SLC12A7 10723 broad.mit.edu 37 5 1071393 1071393 + Intron DEL C - - 2011-2309:2012-318-T g.chr5:1071393delC uc003jbu.2 - NM_006598 NP_006589 SLC12A7 10723 broad.mit.edu 37 5 1071981 1071981 + Intron DEL C - - 2011-2309:2012-318-T g.chr5:1071981delC uc003jbu.2 - NM_006598 NP_006589 TERT 7015 broad.mit.edu 37 5 1272793 1272794 + Intron DEL CA - - 2011-2309:2012-318-T g.chr5:1272793_1272794delCA uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 PKHD1 5314 broad.mit.edu 37 6 51846287 51846287 + Intron DEL T - - 2011-2309:2012-318-T g.chr6:51846287delT uc003pah.1 - PKHD1_uc003pai.2_Intron NM_138694 NP_619639 SYNE1 23345 broad.mit.edu 37 6 152712716 152712716 + Intron DEL A - - 2011-2309:2012-318-T g.chr6:152712716delA uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron NM_182961 NP_892006 FAM120B 84498 broad.mit.edu 37 6 170707896 170707897 + Intron DEL CT - - rs61634568 2011-2309:2012-318-T g.chr6:170707896_170707897delCT uc003qxp.2 + FAM120B_uc011ehd.1_Intron NM_032448 NP_115824 ADAP1 11033 broad.mit.edu 37 7 945259 945260 + Intron INS - A A rs145893866 2011-2309:2012-318-T g.chr7:945259_945260insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 DPP6 1804 broad.mit.edu 37 7 153790720 153790721 + Intron INS - ACAC ACAC 2011-2309:2012-318-T g.chr7:153790720_153790721insACAC uc003wlk.2 + DPP6_uc003wli.2_Intron|DPP6_uc003wlj.2_Intron NM_130797 NP_570629 PTPRN2 5799 broad.mit.edu 37 7 157841508 157841509 + Intron INS - TTG TTG 2011-2309:2012-318-T g.chr7:157841508_157841509insTTG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 TOP1MT 116447 broad.mit.edu 37 8 144405984 144405986 + Intron DEL ATG - - 2011-2309:2012-318-T g.chr8:144405984_144405986delATG uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 TOP1MT 116447 broad.mit.edu 37 8 144405999 144406000 + Intron DEL CT - - 2011-2309:2012-318-T g.chr8:144405999_144406000delCT uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 TTF1 7270 broad.mit.edu 37 9 135252932 135252933 + Intron DEL GT - - 2011-2309:2012-318-T g.chr9:135252932_135252933delGT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 COL5A1 1289 broad.mit.edu 37 9 137577136 137577138 + Intron DEL CCA - - rs140995492 2011-2309:2012-318-T g.chr9:137577136_137577138delCCA uc004cfe.2 + NM_000093 NP_000084 PTDSS2 81490 broad.mit.edu 37 11 471875 471887 + Intron DEL GCACCTGTCTGGT - - rs78978290 by1000genomes 2011-2310:2012-317-T g.chr11:471875_471887delGCACCTGTCTGGT uc001lpj.2 + PTDSS2_uc009ybv.1_Intron NM_030783 NP_110410 KSR2 283455 broad.mit.edu 37 12 118230923 118230924 + Intron INS - CAC CAC rs150927286 by1000genomes 2011-2310:2012-317-T g.chr12:118230923_118230924insCAC uc001two.2 - NM_173598 NP_775869 TMEM132D 121256 broad.mit.edu 37 12 129572417 129572418 + Intron INS - G G 2011-2310:2012-317-T g.chr12:129572417_129572418insG uc009zyl.1 - TMEM132D_uc001uia.2_5'Flank NM_133448 NP_597705 ATP11A 23250 broad.mit.edu 37 13 113482427 113482428 + Intron INS - C C rs11374222;rs67385364 2011-2310:2012-317-T g.chr13:113482427_113482428insC uc001vsi.3 + ATP11A_uc001vsj.3_Intron|ATP11A_uc001vsm.1_Intron NM_015205 NP_056020 PPP4R4 57718 broad.mit.edu 37 14 94684723 94684724 + Intron DEL CA - - 2011-2310:2012-317-T g.chr14:94684723_94684724delCA uc001ycs.1 + PPP4R4_uc001ycr.2_Intron NM_058237 NP_478144 PIGQ 9091 broad.mit.edu 37 16 621075 621076 + Intron INS - GCTAGCC GCTAGCC 2011-2310:2012-317-T g.chr16:621075_621076insGCTAGCC uc002cho.2 + PIGQ_uc010bqw.2_Intron|PIGQ_uc002chm.2_Intron|PIGQ_uc002chn.2_Intron|PIGQ_uc010uui.1_5'Flank NM_148920 NP_683721 LMF1 64788 broad.mit.edu 37 16 1003875 1003876 + Intron INS - CACC CACC rs71771835 2011-2310:2012-317-T g.chr16:1003875_1003876insCACC uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 DPEP1 1800 broad.mit.edu 37 16 89700980 89700980 + Intron DEL T - - 2011-2310:2012-317-T g.chr16:89700980delT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701019 89701019 + Intron DEL C - - 2011-2310:2012-317-T g.chr16:89701019delC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701459 89701459 + Intron DEL T - - rs140405987 2011-2310:2012-317-T g.chr16:89701459delT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 RPH3AL 9501 broad.mit.edu 37 17 138550 138551 + Intron INS - CT CT 2011-2310:2012-317-T g.chr17:138550_138551insCT uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 DLG4 1742 broad.mit.edu 37 17 7111052 7111053 + Intron DEL CA - - 2011-2310:2012-317-T g.chr17:7111052_7111053delCA uc002get.3 - DLG4_uc010vtn.1_5'Flank|DLG4_uc010cly.2_Intron|DLG4_uc010vto.1_Intron|DLG4_uc002geu.2_Intron NM_001365 NP_001356 STAT3 6774 broad.mit.edu 37 17 40497421 40497422 + Intron INS - T T rs146141548 2011-2310:2012-317-T g.chr17:40497421_40497422insT uc002hzl.1 - STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Intron|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Intron NM_139276 NP_644805 CACNG1 786 broad.mit.edu 37 17 65050842 65050843 + Intron DEL AC - - rs142184541;rs71139112 2011-2310:2012-317-T g.chr17:65050842_65050843delAC uc002jfu.2 + NM_000727 NP_000718 PRCD 768206 broad.mit.edu 37 17 74522834 74522834 + 5'Flank DEL G - - 2011-2310:2012-317-T g.chr17:74522834delG uc002jrw.1 + ST8SIA5 29906 broad.mit.edu 37 18 44337444 44337444 + 5'Flank DEL G - - rs2469473 2011-2310:2012-317-T g.chr18:44337444delG uc002lcj.1 - ST8SIA5_uc010xcy.1_5'Flank|ST8SIA5_uc010xcz.1_5'Flank|ST8SIA5_uc010dno.1_5'Flank NM_013305 NP_037437 CACNG7 59284 broad.mit.edu 37 19 54424888 54424888 + Intron DEL T - - rs67447211 2011-2310:2012-317-T g.chr19:54424888delT uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 C20orf26 26074 broad.mit.edu 37 20 20336089 20336090 + Intron DEL TG - - 2011-2310:2012-317-T g.chr20:20336089_20336090delTG uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 C20orf26 26074 broad.mit.edu 37 20 20337194 20337195 + Intron INS - TG TG 2011-2310:2012-317-T g.chr20:20337194_20337195insTG uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 PRIC285 85441 broad.mit.edu 37 20 62190932 62190933 + Intron INS - T T 2011-2310:2012-317-T g.chr20:62190932_62190933insT uc002yfm.2 - PRIC285_uc002yfl.1_Intron NM_001037335 NP_001032412 CACNA1D 776 broad.mit.edu 37 3 53839943 53839944 + Intron DEL TG - - 2011-2310:2012-317-T g.chr3:53839943_53839944delTG uc003dgv.3 + CACNA1D_uc003dgu.3_Intron|CACNA1D_uc003dgy.3_Intron|CACNA1D_uc003dgw.3_Intron|CACNA1D_uc011bes.1_Intron NM_001128840 NP_001122312 SLC12A7 10723 broad.mit.edu 37 5 1070682 1070682 + Intron DEL C - - 2011-2310:2012-317-T g.chr5:1070682delC uc003jbu.2 - NM_006598 NP_006589 ADAMTS16 170690 broad.mit.edu 37 5 5305620 5305621 + Intron INS - A A 2011-2310:2012-317-T g.chr5:5305620_5305621insA uc003jdl.2 + NM_139056 NP_620687 COL23A1 91522 broad.mit.edu 37 5 177672079 177672081 + Intron DEL ATC - - rs72123410 2011-2310:2012-317-T g.chr5:177672079_177672081delATC uc003mje.2 - COL23A1_uc010jkt.2_Intron NM_173465 NP_775736 RUFY1 80230 broad.mit.edu 37 5 179032861 179032861 + Intron DEL T - - 2011-2310:2012-317-T g.chr5:179032861delT uc003mka.1 + RUFY1_uc003mkb.1_Intron|RUFY1_uc003mkc.1_Intron|RUFY1_uc003mkd.1_Intron NM_025158 NP_079434 CAPN11 11131 broad.mit.edu 37 6 44149399 44149400 + Intron INS - CA CA 2011-2310:2012-317-T g.chr6:44149399_44149400insCA uc003owt.1 + CAPN11_uc011dvn.1_Intron NM_007058 NP_008989 MAGI2 9863 broad.mit.edu 37 7 78031652 78031653 + Intron DEL TG - - 2011-2310:2012-317-T g.chr7:78031652_78031653delTG uc003ugx.2 - MAGI2_uc003ugy.2_Intron|MAGI2_uc010ldx.1_Intron|MAGI2_uc010ldy.1_Intron|MAGI2_uc011kgr.1_Intron|MAGI2_uc011kgs.1_Intron NM_012301 NP_036433 NCAPG2 54892 broad.mit.edu 37 7 158460414 158460415 + Intron INS - C C rs151281424 2011-2310:2012-317-T g.chr7:158460414_158460415insC uc003wnv.1 - NCAPG2_uc010lqu.1_Intron|NCAPG2_uc003wnw.1_Intron|NCAPG2_uc003wnx.1_Intron|NCAPG2_uc011kwe.1_Intron|NCAPG2_uc011kwc.1_5'Flank|NCAPG2_uc011kwd.1_5'Flank NM_017760 NP_060230 NCAPG2 54892 broad.mit.edu 37 7 158460935 158460936 + Intron INS - C C rs115206181 by1000genomes 2011-2310:2012-317-T g.chr7:158460935_158460936insC uc003wnv.1 - NCAPG2_uc010lqu.1_Intron|NCAPG2_uc003wnw.1_Intron|NCAPG2_uc003wnx.1_Intron|NCAPG2_uc011kwe.1_Intron|NCAPG2_uc011kwc.1_5'Flank NM_017760 NP_060230 COL22A1 169044 broad.mit.edu 37 8 139818345 139818345 + Intron DEL G - - 2011-2310:2012-317-T g.chr8:139818345delG uc003yvd.2 - NM_152888 NP_690848 COL22A1 169044 broad.mit.edu 37 8 139818348 139818349 + Intron DEL TT - - 2011-2310:2012-317-T g.chr8:139818348_139818349delTT uc003yvd.2 - NM_152888 NP_690848 CDKN2A 1029 broad.mit.edu 37 9 21974759 21974759 + Frame_Shift_Del DEL C - - 2011-2310:2012-317-T g.chr9:21974759delC uc003zpk.2 - 1 280 c.68delG c.(67-69)GGTfs p.G23fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Del_p.G23fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 EXD3 54932 broad.mit.edu 37 9 140249942 140249943 + Intron INS - A A 2011-2310:2012-317-T g.chr9:140249942_140249943insA uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron|EXD3_uc004cmq.1_Intron|EXD3_uc010ncg.1_Intron NM_017820 NP_060290 CRLF2 64109 broad.mit.edu 37 X 1316493 1316496 + Intron DEL CCAG - - 2011-2310:2012-317-T g.chrX:1316493_1316496delCCAG uc004cpm.1 - DHRSX 207063 broad.mit.edu 37 X 2300710 2300711 + Intron INS - CAC CAC 2011-2310:2012-317-T g.chrX:2300710_2300711insCAC uc004cqf.3 - NM_145177 NP_660160 ODZ1 10178 broad.mit.edu 37 X 124097823 124097824 + 5'Flank DEL CT - - 2011-2310:2012-317-T g.chrX:124097823_124097824delCT uc004euj.2 - ODZ1_uc011muj.1_5'Flank|ODZ1_uc010nqy.2_5'Flank NM_014253 NP_055068 PRDM16 63976 broad.mit.edu 37 1 3186978 3186979 + Intron DEL CC - - 2011-2311:2012-362-T g.chr1:3186978_3186979delCC uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 UBR4 23352 broad.mit.edu 37 1 19398947 19398949 + RNA DEL CTG - - 2011-2311:2012-362-T g.chr1:19398947_19398949delCTG uc001bbe.1 - 1 c.3057_3059delCAG SMYD3 64754 broad.mit.edu 37 1 246187647 246187648 + Intron INS - A A 2011-2311:2012-362-T g.chr1:246187647_246187648insA uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 ADARB2 105 broad.mit.edu 37 10 1282215 1282217 + Intron DEL CCT - - rs71491353 2011-2311:2012-362-T g.chr10:1282215_1282217delCCT uc009xhq.2 - NM_018702 NP_061172 CUBN 8029 broad.mit.edu 37 10 17110578 17110578 + Intron DEL A - - 2011-2311:2012-362-T g.chr10:17110578delA uc001ioo.2 - NM_001081 NP_001072 ANXA8 653145 broad.mit.edu 37 10 47058971 47058972 + Intron INS - CA CA rs144230274 2011-2311:2012-362-T g.chr10:47058971_47058972insCA uc001jed.3 - CHST15 51363 broad.mit.edu 37 10 125803613 125803614 + Intron INS - A A 2011-2311:2012-362-T g.chr10:125803613_125803614insA uc001lhl.2 - CHST15_uc001lhm.2_Intron|CHST15_uc001lhn.2_Intron|CHST15_uc010que.1_Intron|CHST15_uc001lho.2_Intron NM_015892 NP_056976 B4GALNT3 283358 broad.mit.edu 37 12 620920 620921 + Intron INS - C C 2011-2311:2012-362-T g.chr12:620920_620921insC uc001qii.1 + NM_173593 NP_775864 MYO1H 283446 broad.mit.edu 37 12 109880910 109880911 + Intron DEL TA - - 2011-2311:2012-362-T g.chr12:109880910_109880911delTA uc010sxo.1 + MYO1H_uc010sxn.1_Intron ANKLE2 23141 broad.mit.edu 37 12 133319369 133319369 + Intron DEL C - - 2011-2311:2012-362-T g.chr12:133319369delC uc001ukx.2 - ANKLE2_uc001uky.3_Intron NM_015114 NP_055929 PCCA 5095 broad.mit.edu 37 13 101104158 101104158 + Intron DEL C - - 2011-2311:2012-362-T g.chr13:101104158delC uc001voo.2 + PCCA_uc010aga.2_Intron|PCCA_uc010tiz.1_Intron|PCCA_uc001vop.2_Intron NM_000282 NP_000273 ATP11A 23250 broad.mit.edu 37 13 113369666 113369667 + Intron INS - C C 2011-2311:2012-362-T g.chr13:113369666_113369667insC uc001vsi.3 + ATP11A_uc001vsj.3_Intron NM_015205 NP_056020 ATP11A 23250 broad.mit.edu 37 13 113433571 113433573 + Intron DEL GAG - - 2011-2311:2012-362-T g.chr13:113433571_113433573delGAG uc001vsi.3 + ATP11A_uc001vsj.3_Intron NM_015205 NP_056020 ATP11A 23250 broad.mit.edu 37 13 113433578 113433580 + Intron DEL AGC - - 2011-2311:2012-362-T g.chr13:113433578_113433580delAGC uc001vsi.3 + ATP11A_uc001vsj.3_Intron NM_015205 NP_056020 ATP11A 23250 broad.mit.edu 37 13 113482432 113482433 + Intron INS - A A rs143513857 by1000genomes 2011-2311:2012-362-T g.chr13:113482432_113482433insA uc001vsi.3 + ATP11A_uc001vsj.3_Intron|ATP11A_uc001vsm.1_Intron NM_015205 NP_056020 F7 2155 broad.mit.edu 37 13 113761657 113761658 + Intron INS - T T rs71446936 2011-2311:2012-362-T g.chr13:113761657_113761658insT uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 RASA3 22821 broad.mit.edu 37 13 114761573 114761574 + Intron INS - G G 2011-2311:2012-362-T g.chr13:114761573_114761574insG uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron NM_007368 NP_031394 RASA3 22821 broad.mit.edu 37 13 114772897 114772898 + Intron INS - CC CC 2011-2311:2012-362-T g.chr13:114772897_114772898insCC uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron NM_007368 NP_031394 RAB11FIP3 9727 broad.mit.edu 37 16 554687 554687 + Intron DEL T - - 2011-2311:2012-362-T g.chr16:554687delT uc002chf.2 + RAB11FIP3_uc010uuf.1_Intron|RAB11FIP3_uc010uug.1_Intron NM_014700 NP_055515 DPEP1 1800 broad.mit.edu 37 16 89701145 89701145 + Intron DEL C - - 2011-2311:2012-362-T g.chr16:89701145delC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 RPH3AL 9501 broad.mit.edu 37 17 165323 165324 + Intron INS - A A 2011-2311:2012-362-T g.chr17:165323_165324insA uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 EIF4A3 9775 broad.mit.edu 37 17 78120865 78120866 + 5'Flank DEL TG - - 2011-2311:2012-362-T g.chr17:78120865_78120866delTG uc010wuc.1 - EIF4A3_uc002jxs.2_5'UTR NM_014740 NP_055555 BAHCC1 57597 broad.mit.edu 37 17 79399218 79399218 + Intron DEL T - - 2011-2311:2012-362-T g.chr17:79399218delT uc002kaf.2 + NM_001080519 NP_001073988 BAHCC1 57597 broad.mit.edu 37 17 79399287 79399288 + Intron INS - TGGTGGTGATAG TGGTGGTGATAG 2011-2311:2012-362-T g.chr17:79399287_79399288insTGGTGGTGATAG uc002kaf.2 + NM_001080519 NP_001073988 BAHCC1 57597 broad.mit.edu 37 17 79399298 79399299 + Intron INS - A A 2011-2311:2012-362-T g.chr17:79399298_79399299insA uc002kaf.2 + NM_001080519 NP_001073988 PQLC1 80148 broad.mit.edu 37 18 77669682 77669683 + Intron DEL AA - - 2011-2311:2012-362-T g.chr18:77669682_77669683delAA uc002lnl.2 - PQLC1_uc010dre.2_Intron|PQLC1_uc002lnk.2_Intron|PQLC1_uc010xfm.1_Intron NM_025078 NP_079354 HCN2 610 broad.mit.edu 37 19 602295 602299 + Intron DEL CTCTC - - 2011-2311:2012-362-T g.chr19:602295_602299delCTCTC uc002lpe.2 + NM_001194 NP_001185 INSR 3643 broad.mit.edu 37 19 7197589 7197592 + Intron DEL GTGT - - rs113829911;rs13344151 2011-2311:2012-362-T g.chr19:7197589_7197592delGTGT uc002mgd.1 - INSR_uc002mge.1_Intron|INSR_uc002mgf.2_Intron NM_000208 NP_000199 INSR 3643 broad.mit.edu 37 19 7197695 7197696 + Intron INS - GT GT 2011-2311:2012-362-T g.chr19:7197695_7197696insGT uc002mgd.1 - INSR_uc002mge.1_Intron|INSR_uc002mgf.2_Intron NM_000208 NP_000199 SIN3B 23309 broad.mit.edu 37 19 16986480 16986484 + Intron DEL TGGTC - - 2011-2311:2012-362-T g.chr19:16986480_16986484delTGGTC uc002ney.1 + SIN3B_uc002nez.1_Intron|SIN3B_uc010xpi.1_Intron|SIN3B_uc010eaj.1_5'Flank NM_015260 NP_056075 CACNG7 59284 broad.mit.edu 37 19 54425265 54425265 + Intron DEL T - - 2011-2311:2012-362-T g.chr19:54425265delT uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 CACNG7 59284 broad.mit.edu 37 19 54426460 54426461 + Intron INS - T T 2011-2311:2012-362-T g.chr19:54426460_54426461insT uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 ZNF444 55311 broad.mit.edu 37 19 56660504 56660505 + Intron INS - C C 2011-2311:2012-362-T g.chr19:56660504_56660505insC uc002qmm.2 + ZNF444_uc002qmn.1_Intron NM_018337 NP_060807 PXDN 7837 broad.mit.edu 37 2 1683526 1683529 + Intron DEL GTGT - - 2011-2311:2012-362-T g.chr2:1683526_1683529delGTGT uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 C2orf65 130951 broad.mit.edu 37 2 74788299 74788300 + Intron INS - AGA AGA 2011-2311:2012-362-T g.chr2:74788299_74788300insAGA uc002smy.2 - C2orf65_uc010ysa.1_Intron|C2orf65_uc010ffp.2_Intron|C2orf65_uc002smx.2_Intron NM_138804 NP_620159 RMND5A 64795 broad.mit.edu 37 2 87623776 87623776 + Intron DEL A - - 2011-2311:2012-362-T g.chr2:87623776delA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87641742 87641745 + Intron DEL AGCC - - 2011-2311:2012-362-T g.chr2:87641742_87641745delAGCC uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87642644 87642644 + Intron DEL G - - 2011-2311:2012-362-T g.chr2:87642644delG uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87643612 87643613 + Intron INS - A A 2011-2311:2012-362-T g.chr2:87643612_87643613insA uc002srs.3 + AFF3 3899 broad.mit.edu 37 2 100632483 100632485 + Intron DEL GTG - - 2011-2311:2012-362-T g.chr2:100632483_100632485delGTG uc002tag.2 - AFF3_uc002taf.2_Intron|AFF3_uc010fiq.1_Intron|AFF3_uc010yvr.1_Intron|AFF3_uc002tah.1_Intron|AFF3_uc010fir.1_Intron NM_002285 NP_002276 HDAC4 9759 broad.mit.edu 37 2 240203285 240203288 + Intron DEL CACA - - 2011-2311:2012-362-T g.chr2:240203285_240203288delCACA uc002vyk.3 - HDAC4_uc010fyz.1_Intron|HDAC4_uc010zoa.1_Intron|HDAC4_uc010fza.2_Intron NM_006037 NP_006028 TAF4 6874 broad.mit.edu 37 20 60557124 60557124 + Intron DEL C - - rs112352725 2011-2311:2012-362-T g.chr20:60557124delC uc002ybs.2 - NM_003185 NP_003176 KCNQ2 3785 broad.mit.edu 37 20 62074646 62074648 + Intron DEL CAC - - 2011-2311:2012-362-T g.chr20:62074646_62074648delCAC uc002yey.1 - KCNQ2_uc002yez.1_Intron|KCNQ2_uc002yfa.1_Intron|KCNQ2_uc002yfb.1_Intron|KCNQ2_uc011aax.1_Intron|KCNQ2_uc002yfc.1_Intron NM_172107 NP_742105 EEF1A2 1917 broad.mit.edu 37 20 62123799 62123802 + Intron DEL ATGG - - 2011-2311:2012-362-T g.chr20:62123799_62123802delATGG uc002yfd.1 - EEF1A2_uc002yfe.1_Intron|EEF1A2_uc010gkg.1_Intron NM_001958 NP_001949 DSCAM 1826 broad.mit.edu 37 21 41658774 41658775 + Intron INS - A A rs62223768;rs62223769 2011-2311:2012-362-T g.chr21:41658774_41658775insA uc002yyq.1 - DSCAM_uc002yyr.1_Intron NM_001389 NP_001380 CLTCL1 8218 broad.mit.edu 37 22 19190024 19190025 + Intron INS - T T rs142594988 by1000genomes 2011-2311:2012-362-T g.chr22:19190024_19190025insT uc002zpb.2 - CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Intron|CLTCL1_uc011agt.1_Intron|CLTCL1_uc011agu.1_Intron|CLTCL1_uc010grm.1_Intron|CLTCL1_uc002zpe.2_Intron|CLTCL1_uc002zpd.1_Intron NM_007098 NP_009029 PARVB 29780 broad.mit.edu 37 22 44550819 44550820 + Intron INS - TG TG rs140446126 by1000genomes 2011-2311:2012-362-T g.chr22:44550819_44550820insTG uc003ben.2 + PARVB_uc003bem.2_Intron|PARVB_uc010gzn.2_Intron|PARVB_uc003beo.2_Intron NM_013327 NP_037459 MAPKAPK3 7867 broad.mit.edu 37 3 50670862 50670863 + Intron DEL CA - - 2011-2311:2012-362-T g.chr3:50670862_50670863delCA uc003day.1 + MAPKAPK3_uc003daz.1_Intron|MAPKAPK3_uc003dba.1_Intron|MAPKAPK3_uc010hlr.1_Intron NM_004635 NP_004626 TNK2 10188 broad.mit.edu 37 3 195597917 195597918 + Intron INS - G G 2011-2311:2012-362-T g.chr3:195597917_195597918insG uc003fvu.1 - TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Intron|TNK2_uc003fvs.1_Intron|TNK2_uc003fvt.1_Intron|TNK2_uc010hzw.1_Intron|TNK2_uc003fvv.1_Intron NM_005781 NP_005772 SH3TC1 54436 broad.mit.edu 37 4 8241157 8241158 + Intron INS - CA CA rs145892605;rs137987746 by1000genomes 2011-2311:2012-362-T g.chr4:8241157_8241158insCA uc003gkv.3 + SH3TC1_uc003gkw.3_Intron|SH3TC1_uc003gkx.3_Intron|SH3TC1_uc003gky.2_Intron NM_018986 NP_061859 BST1 683 broad.mit.edu 37 4 15705341 15705342 + Intron DEL GT - - 2011-2311:2012-362-T g.chr4:15705341_15705342delGT uc003goh.3 + NM_004334 NP_004325 KLKB1 3818 broad.mit.edu 37 4 187173886 187173887 + Intron INS - ATCCC ATCCC 2011-2311:2012-362-T g.chr4:187173886_187173887insATCCC uc003iyy.2 + KLKB1_uc011clc.1_Intron|KLKB1_uc011cld.1_Intron NM_000892 NP_000883 MTNR1A 4543 broad.mit.edu 37 4 187461961 187461962 + Intron INS - GAAG GAAG rs34538990 2011-2311:2012-362-T g.chr4:187461961_187461962insGAAG uc003izd.1 - NM_005958 NP_005949 CEP72 55722 broad.mit.edu 37 5 649777 649778 + Intron INS - G G 2011-2311:2012-362-T g.chr5:649777_649778insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650191 650192 + Intron DEL TG - - 2011-2311:2012-362-T g.chr5:650191_650192delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650781 650781 + Intron DEL G - - 2011-2311:2012-362-T g.chr5:650781delG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 651202 651202 + Intron DEL G - - 2011-2311:2012-362-T g.chr5:651202delG uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1070270 1070270 + Intron DEL G - - 2011-2311:2012-362-T g.chr5:1070270delG uc003jbu.2 - NM_006598 NP_006589 SLC12A7 10723 broad.mit.edu 37 5 1072600 1072600 + Intron DEL G - - 2011-2311:2012-362-T g.chr5:1072600delG uc003jbu.2 - NM_006598 NP_006589 TERT 7015 broad.mit.edu 37 5 1273198 1273199 + Intron DEL CA - - rs72327925 2011-2311:2012-362-T g.chr5:1273198_1273199delCA uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 TERT 7015 broad.mit.edu 37 5 1273779 1273780 + Intron DEL CA - - 2011-2311:2012-362-T g.chr5:1273779_1273780delCA uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 ADAMTS2 9509 broad.mit.edu 37 5 178704796 178704796 + Intron DEL G - - 2011-2311:2012-362-T g.chr5:178704796delG uc003mjw.2 - ADAMTS2_uc011dgm.1_Intron NM_014244 NP_055059 ADAP1 11033 broad.mit.edu 37 7 945239 945239 + Intron DEL A - - 2011-2311:2012-362-T g.chr7:945239delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 982028 982028 + Intron DEL G - - 2011-2311:2012-362-T g.chr7:982028delG uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 MAD1L1 8379 broad.mit.edu 37 7 2035905 2035906 + Intron INS - C C rs68072290 2011-2311:2012-362-T g.chr7:2035905_2035906insC uc003slh.1 - MAD1L1_uc003sle.1_Intron|MAD1L1_uc003slf.1_Intron|MAD1L1_uc003slg.1_Intron|MAD1L1_uc010ksh.1_Intron|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Intron|MAD1L1_uc010ksj.2_Intron NM_001013836 NP_001013858 ELMO1 9844 broad.mit.edu 37 7 37487318 37487329 + Intron DEL CACACACACACA - - rs66548804;rs36083259 2011-2311:2012-362-T g.chr7:37487318_37487329delCACACACACACA uc003tfk.1 - ELMO1_uc010kxg.1_Intron NM_014800 NP_055615 MAGI2 9863 broad.mit.edu 37 7 78031652 78031653 + Intron DEL TG - - 2011-2311:2012-362-T g.chr7:78031652_78031653delTG uc003ugx.2 - MAGI2_uc003ugy.2_Intron|MAGI2_uc010ldx.1_Intron|MAGI2_uc010ldy.1_Intron|MAGI2_uc011kgr.1_Intron|MAGI2_uc011kgs.1_Intron NM_012301 NP_036433 ERICH1 157697 broad.mit.edu 37 8 625787 625787 + Intron DEL G - - 2011-2311:2012-362-T g.chr8:625787delG uc003wph.2 - ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron|ERICH1_uc003wpi.2_5'Flank NM_207332 NP_997215 RP1L1 94137 broad.mit.edu 37 8 10481007 10481023 + Intron DEL CACCATGTCCCCAGAAC - - rs112766794;rs75230744;rs71203343;rs77126814;rs75015898;rs148851696;rs4557665;rs80308501;rs77231797 2011-2311:2012-362-T g.chr8:10481007_10481023delCACCATGTCCCCAGAAC uc003wtc.2 - NM_178857 NP_849188 CSMD3 114788 broad.mit.edu 37 8 113515941 113515941 + Intron DEL G - - 2011-2311:2012-362-T g.chr8:113515941delG uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 PARP10 84875 broad.mit.edu 37 8 145055878 145055880 + Intron DEL TGA - - 2011-2311:2012-362-T g.chr8:145055878_145055880delTGA uc003zal.3 - PARP10_uc003zak.3_Intron|PARP10_uc011lku.1_Intron|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Intron NM_032789 NP_116178 DOCK8 81704 broad.mit.edu 37 9 400472 400472 + Intron DEL C - - 2011-2311:2012-362-T g.chr9:400472delC uc003zgf.2 + DOCK8_uc010mgu.2_Intron|DOCK8_uc010mgv.2_Intron|DOCK8_uc010mgw.1_Intron|DOCK8_uc003zgk.2_Intron NM_203447 NP_982272 EXD3 54932 broad.mit.edu 37 9 140224570 140224570 + Intron DEL G - - 2011-2311:2012-362-T g.chr9:140224570delG uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron NM_017820 NP_060290 EHMT1 79813 broad.mit.edu 37 9 140610840 140610842 + Intron DEL TGT - - rs142045955 by1000genomes 2011-2311:2012-362-T g.chr9:140610840_140610842delTGT uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 EHMT1 79813 broad.mit.edu 37 9 140615652 140615653 + Intron INS - C C 2011-2311:2012-362-T g.chr9:140615652_140615653insC uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 AGRN 375790 broad.mit.edu 37 1 966467 966468 + Intron INS - TG TG 2011-2312:2012-361-T g.chr1:966467_966468insTG uc001ack.1 + NM_198576 NP_940978 LRP5 4041 broad.mit.edu 37 11 68189265 68189268 + Intron DEL GTGT - - 2011-2312:2012-361-T g.chr11:68189265_68189268delGTGT uc001ont.2 + LRP5_uc009ysg.2_Intron NM_002335 NP_002326 FAT3 120114 broad.mit.edu 37 11 92438785 92438786 + Intron DEL GT - - 2011-2312:2012-361-T g.chr11:92438785_92438786delGT uc001pdj.3 + NM_001008781 NP_001008781 FAT3 120114 broad.mit.edu 37 11 92438828 92438829 + Intron INS - G G 2011-2312:2012-361-T g.chr11:92438828_92438829insG uc001pdj.3 + NM_001008781 NP_001008781 B4GALNT3 283358 broad.mit.edu 37 12 621013 621016 + Intron DEL CCAC - - 2011-2312:2012-361-T g.chr12:621013_621016delCCAC uc001qii.1 + NM_173593 NP_775864 DHX37 57647 broad.mit.edu 37 12 125445826 125445827 + Intron INS - CG CG rs10699906 2011-2312:2012-361-T g.chr12:125445826_125445827insCG uc001ugy.2 - NM_032656 NP_116045 CUL4A 8451 broad.mit.edu 37 13 113886381 113886382 + Intron INS - C C 2011-2312:2012-361-T g.chr13:113886381_113886382insC uc010tjy.1 + CUL4A_uc010tjx.1_Intron|CUL4A_uc010agu.2_Intron|CUL4A_uc001vtl.1_5'Flank NM_001008895 NP_001008895 CUL4A 8451 broad.mit.edu 37 13 113886382 113886383 + Intron INS - GC GC 2011-2312:2012-361-T g.chr13:113886382_113886383insGC uc010tjy.1 + CUL4A_uc010tjx.1_Intron|CUL4A_uc010agu.2_Intron|CUL4A_uc001vtl.1_5'Flank NM_001008895 NP_001008895 INF2 64423 broad.mit.edu 37 14 105187402 105187403 + Intron INS - C C 2011-2312:2012-361-T g.chr14:105187402_105187403insC uc010tyi.1 + NM_022489 NP_071934 INF2 64423 broad.mit.edu 37 14 105187436 105187437 + Intron INS - C C 2011-2312:2012-361-T g.chr14:105187436_105187437insC uc010tyi.1 + NM_022489 NP_071934 INF2 64423 broad.mit.edu 37 14 105187468 105187468 + Intron DEL C - - 2011-2312:2012-361-T g.chr14:105187468delC uc010tyi.1 + NM_022489 NP_071934 INF2 64423 broad.mit.edu 37 14 105187470 105187472 + Intron DEL TCC - - 2011-2312:2012-361-T g.chr14:105187470_105187472delTCC uc010tyi.1 + NM_022489 NP_071934 SOLH 6650 broad.mit.edu 37 16 594831 594832 + Intron INS - T T rs11444365 2011-2312:2012-361-T g.chr16:594831_594832insT uc002chi.2 + SOLH_uc002chh.1_Intron NM_005632 NP_005623 LMF1 64788 broad.mit.edu 37 16 908496 908497 + Intron INS - A A rs74531533 2011-2312:2012-361-T g.chr16:908496_908497insA uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 JPH3 57338 broad.mit.edu 37 16 87637894 87637896 + Intron DEL CTG - - 2011-2312:2012-361-T g.chr16:87637894_87637896delCTG uc002fkd.2 + JPH3_uc010vou.1_Intron NM_020655 NP_065706 KLHDC4 54758 broad.mit.edu 37 16 87772470 87772471 + Intron INS - CATC CATC rs71667828 2011-2312:2012-361-T g.chr16:87772470_87772471insCATC uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 NXN 64359 broad.mit.edu 37 17 795401 795402 + Intron INS - C C 2011-2312:2012-361-T g.chr17:795401_795402insC uc002fsa.2 - NXN_uc002fsb.1_Intron NM_022463 NP_071908 BAHCC1 57597 broad.mit.edu 37 17 79398775 79398776 + Intron INS - G G 2011-2312:2012-361-T g.chr17:79398775_79398776insG uc002kaf.2 + NM_001080519 NP_001073988 TBCD 6904 broad.mit.edu 37 17 80806756 80806756 + Intron DEL C - - rs67238067 2011-2312:2012-361-T g.chr17:80806756delC uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 PEPD 5184 broad.mit.edu 37 19 33949472 33949480 + Intron DEL ATGTGGAAC - - rs61720709 2011-2312:2012-361-T g.chr19:33949472_33949480delATGTGGAAC uc002nur.3 - PEPD_uc010xrr.1_Intron|PEPD_uc010xrs.1_Intron NM_000285 NP_000276 TSSC1 7260 broad.mit.edu 37 2 3203697 3203698 + Intron INS - A A 2011-2312:2012-361-T g.chr2:3203697_3203698insA uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 TSSC1 7260 broad.mit.edu 37 2 3203699 3203700 + Intron INS - GGT GGT rs55762340 2011-2312:2012-361-T g.chr2:3203699_3203700insGGT uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 RMND5A 64795 broad.mit.edu 37 2 87634011 87634011 + Intron DEL A - - 2011-2312:2012-361-T g.chr2:87634011delA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87655729 87655730 + Intron INS - G G 2011-2312:2012-361-T g.chr2:87655729_87655730insG uc002srs.3 + SGPP2 130367 broad.mit.edu 37 2 223421514 223421514 + Intron DEL T - - 2011-2312:2012-361-T g.chr2:223421514delT uc010zlo.1 + SGPP2_uc010zlp.1_Intron NM_152386 NP_689599 SGPP2 130367 broad.mit.edu 37 2 223421575 223421575 + Intron DEL T - - 2011-2312:2012-361-T g.chr2:223421575delT uc010zlo.1 + SGPP2_uc010zlp.1_Intron NM_152386 NP_689599 COL18A1 80781 broad.mit.edu 37 21 46920755 46920756 + Intron INS - GT GT 2011-2312:2012-361-T g.chr21:46920755_46920756insGT uc011afs.1 + COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Intron|SLC19A1_uc010gpy.1_Intron NM_130444 NP_569711 TTLL8 164714 broad.mit.edu 37 22 50467117 50467118 + Intron INS - C C rs137985926 by1000genomes 2011-2312:2012-361-T g.chr22:50467117_50467118insC uc011ark.1 - NM_001080447 NP_001073916 ADCY5 111 broad.mit.edu 37 3 123102705 123102706 + Intron DEL CA - - 2011-2312:2012-361-T g.chr3:123102705_123102706delCA uc003egh.1 - ADCY5_uc003egg.1_Intron|ADCY5_uc003egi.1_Intron NM_183357 NP_899200 IFT122 55764 broad.mit.edu 37 3 129235538 129235539 + Intron DEL CA - - rs145311776 by1000genomes 2011-2312:2012-361-T g.chr3:129235538_129235539delCA uc003emm.2 + IFT122_uc003eml.2_Intron|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Intron|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Intron NM_052989 NP_443715 IFT122 55764 broad.mit.edu 37 3 129236112 129236115 + Intron DEL CACA - - rs146861755;rs9855705 by1000genomes 2011-2312:2012-361-T g.chr3:129236112_129236115delCACA uc003emm.2 + IFT122_uc003eml.2_Intron|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Intron|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Intron NM_052989 NP_443715 SH3BP2 6452 broad.mit.edu 37 4 2828024 2828025 + Intron INS - TG TG rs72349001 2011-2312:2012-361-T g.chr4:2828024_2828025insTG uc003gfi.3 + SH3BP2_uc011bvp.1_Intron|SH3BP2_uc003gfj.3_Intron|SH3BP2_uc003gfk.3_Intron|SH3BP2_uc003gfl.3_Intron|SH3BP2_uc003gfm.3_5'Flank NM_001122681 NP_001116153 CEP72 55722 broad.mit.edu 37 5 649181 649181 + Intron DEL G - - 2011-2312:2012-361-T g.chr5:649181delG uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1070488 1070489 + Intron INS - G G rs71887531 2011-2312:2012-361-T g.chr5:1070488_1070489insG uc003jbu.2 - NM_006598 NP_006589 TCP10 6953 broad.mit.edu 37 6 167800592 167800593 + 5'Flank INS - GA GA 2011-2312:2012-361-T g.chr6:167800592_167800593insGA uc003qvv.1 - TCP10_uc003qvu.2_5'Flank|TCP10_uc003qvw.2_5'Flank NM_004610 NP_004601 DLX6 1750 broad.mit.edu 37 7 96635420 96635421 + Intron INS - GCC GCC 2011-2312:2012-361-T g.chr7:96635420_96635421insGCC uc003uom.2 + DLX6AS_uc003uok.2_5'Flank|DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron NM_005222 NP_005213 WDR86 349136 broad.mit.edu 37 7 151094868 151094869 + Intron INS - AG AG 2011-2312:2012-361-T g.chr7:151094868_151094869insAG uc003wkb.2 - WDR86_uc003wka.2_Intron|WDR86_uc011kvk.1_Intron|WDR86_uc003wkc.2_Intron NM_198285 NP_938026 ERICH1 157697 broad.mit.edu 37 8 625156 625157 + Intron INS - G G 2011-2312:2012-361-T g.chr8:625156_625157insG uc003wph.2 - ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron|ERICH1_uc003wpi.2_5'Flank NM_207332 NP_997215 SOX7 83595 broad.mit.edu 37 8 10691151 10691152 + Intron DEL AT - - 2011-2312:2012-361-T g.chr8:10691151_10691152delAT uc011kwz.1 - PINX1_uc003wth.2_Intron|PINX1_uc003wti.2_Intron NM_031439 NP_113627 HEATR7A 727957 broad.mit.edu 37 8 145288395 145288395 + Intron DEL C - - 2011-2312:2012-361-T g.chr8:145288395delC uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 COL5A1 1289 broad.mit.edu 37 9 137577287 137577289 + Intron DEL TTG - - rs140155348;rs117330509 by1000genomes 2011-2312:2012-361-T g.chr9:137577287_137577289delTTG uc004cfe.2 + NM_000093 NP_000084 COL5A1 1289 broad.mit.edu 37 9 137577301 137577301 + Intron DEL T - - 2011-2312:2012-361-T g.chr9:137577301delT uc004cfe.2 + NM_000093 NP_000084 PCDH11X 27328 broad.mit.edu 37 X 91667142 91667144 + Intron DEL GAG - - 2011-2312:2012-361-T g.chrX:91667142_91667144delGAG uc004efk.1 + PCDH11X_uc004efl.1_Intron|PCDH11X_uc004efo.1_Intron|PCDH11X_uc010nmv.1_Intron|PCDH11X_uc004efm.1_Intron|PCDH11X_uc004efn.1_Intron NM_032968 NP_116750 AGRN 375790 broad.mit.edu 37 1 965124 965126 + Intron DEL GCG - - rs71574344 2011-2313:2012-360-T g.chr1:965124_965126delGCG uc001ack.1 + NM_198576 NP_940978 LGR6 59352 broad.mit.edu 37 1 202174447 202174450 + Intron DEL CAAA - - 2011-2313:2012-360-T g.chr1:202174447_202174450delCAAA uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 KSR2 283455 broad.mit.edu 37 12 118232219 118232220 + Intron DEL TG - - 2011-2313:2012-360-T g.chr12:118232219_118232220delTG uc001two.2 - NM_173598 NP_775869 TMEM120B 144404 broad.mit.edu 37 12 122185417 122185418 + Intron INS - CA CA 2011-2313:2012-360-T g.chr12:122185417_122185418insCA uc001ubc.3 + TMEM120B_uc009zxh.2_Intron NM_001080825 NP_001074294 COL4A2 1284 broad.mit.edu 37 13 111007705 111007706 + Intron INS - T T 2011-2313:2012-360-T g.chr13:111007705_111007706insT uc001vqx.2 + NM_001846 NP_001837 COL4A2 1284 broad.mit.edu 37 13 111007732 111007733 + Intron INS - TGT TGT rs68075017 2011-2313:2012-360-T g.chr13:111007732_111007733insTGT uc001vqx.2 + NM_001846 NP_001837 F7 2155 broad.mit.edu 37 13 113762882 113762883 + Intron INS - T T rs76788797 2011-2313:2012-360-T g.chr13:113762882_113762883insT uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 LMF1 64788 broad.mit.edu 37 16 1000029 1000030 + Intron DEL CC - - 2011-2313:2012-360-T g.chr16:1000029_1000030delCC uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 1000031 1000032 + Intron INS - G G 2011-2313:2012-360-T g.chr16:1000031_1000032insG uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 RPH3AL 9501 broad.mit.edu 37 17 136731 136732 + Intron DEL CT - - rs71863097 2011-2313:2012-360-T g.chr17:136731_136732delCT uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 NTN1 9423 broad.mit.edu 37 17 9132442 9132443 + Intron DEL AC - - 2011-2313:2012-360-T g.chr17:9132442_9132443delAC uc002glw.3 + NM_004822 NP_004813 MED16 10025 broad.mit.edu 37 19 877952 877963 + Intron DEL CCAGCCCCAGCC - - 2011-2313:2012-360-T g.chr19:877952_877963delCCAGCCCCAGCC uc002lqd.1 - MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Intron|MED16_uc002lqf.2_Intron|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron NM_005481 NP_005472 SPPL2B 56928 broad.mit.edu 37 19 2336897 2336898 + Intron INS - GT GT rs74597536;rs150473920 2011-2313:2012-360-T g.chr19:2336897_2336898insGT uc002lvs.2 + SPPL2B_uc010dsw.1_Intron|SPPL2B_uc010dsy.1_Intron|SPPL2B_uc010dsz.1_Intron|SPPL2B_uc002lvr.2_Intron|SPPL2B_uc010dta.1_5'Flank|SPPL2B_uc002lvu.2_5'Flank NM_152988 NP_694533 TSSC1 7260 broad.mit.edu 37 2 3298684 3298685 + Intron INS - CA CA rs149607117;rs34509649 by1000genomes 2011-2313:2012-360-T g.chr2:3298684_3298685insCA uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 FAM179A 165186 broad.mit.edu 37 2 29227753 29227758 + Intron DEL TGTACA - - rs149344765 by1000genomes 2011-2313:2012-360-T g.chr2:29227753_29227758delTGTACA uc010ezl.2 + FAM179A_uc010ymm.1_Intron NM_199280 NP_954974 RMND5A 64795 broad.mit.edu 37 2 87623326 87623327 + Intron INS - A A 2011-2313:2012-360-T g.chr2:87623326_87623327insA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87623776 87623776 + Intron DEL A - - 2011-2313:2012-360-T g.chr2:87623776delA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87623885 87623886 + Intron INS - C C 2011-2313:2012-360-T g.chr2:87623885_87623886insC uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87643656 87643659 + Intron DEL CAGT - - 2011-2313:2012-360-T g.chr2:87643656_87643659delCAGT uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87644146 87644147 + Intron INS - A A 2011-2313:2012-360-T g.chr2:87644146_87644147insA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87719726 87719726 + Intron DEL C - - 2011-2313:2012-360-T g.chr2:87719726delC uc002srs.3 + RAB3GAP1 22930 broad.mit.edu 37 2 135875222 135875224 + Intron DEL CTG - - 2011-2313:2012-360-T g.chr2:135875222_135875224delCTG uc002tuj.2 + RAB3GAP1_uc010fnf.2_Intron|RAB3GAP1_uc010fng.2_Intron|RAB3GAP1_uc010fnh.1_Intron NM_012233 NP_036365 AGXT 189 broad.mit.edu 37 2 241811710 241811712 + Intron DEL AGG - - 2011-2313:2012-360-T g.chr2:241811710_241811712delAGG uc002waa.3 + AGXT_uc010zoi.1_Intron NM_000030 NP_000021 BMP7 655 broad.mit.edu 37 20 55794255 55794257 + Intron DEL TGG - - 2011-2313:2012-360-T g.chr20:55794255_55794257delTGG uc010gip.1 - BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Intron NM_001719 NP_001710 TTLL8 164714 broad.mit.edu 37 22 50467662 50467663 + Intron INS - C C 2011-2313:2012-360-T g.chr22:50467662_50467663insC uc011ark.1 - NM_001080447 NP_001073916 RGS12 6002 broad.mit.edu 37 4 3377188 3377188 + Intron DEL T - - 2011-2313:2012-360-T g.chr4:3377188delT uc003ggw.2 + RGS12_uc003ggu.2_Intron|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Intron|RGS12_uc003ggv.2_Intron|RGS12_uc003ggy.1_Intron|RGS12_uc010ict.1_Intron|RGS12_uc003ggz.2_Intron NM_198229 NP_937872 SORCS2 57537 broad.mit.edu 37 4 7726207 7726208 + Intron INS - TGA TGA rs147164731 2011-2313:2012-360-T g.chr4:7726207_7726208insTGA uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 CEP72 55722 broad.mit.edu 37 5 650097 650098 + Intron DEL TG - - 2011-2313:2012-360-T g.chr5:650097_650098delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650551 650551 + Intron DEL G - - 2011-2313:2012-360-T g.chr5:650551delG uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1072619 1072619 + Intron DEL C - - 2011-2313:2012-360-T g.chr5:1072619delC uc003jbu.2 - NM_006598 NP_006589 SLC12A7 10723 broad.mit.edu 37 5 1072765 1072765 + Intron DEL C - - 2011-2313:2012-360-T g.chr5:1072765delC uc003jbu.2 - NM_006598 NP_006589 TRIO 7204 broad.mit.edu 37 5 14403329 14403331 + Intron DEL GTG - - 2011-2313:2012-360-T g.chr5:14403329_14403331delGTG uc003jff.2 + TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Intron NM_007118 NP_009049 THBS2 7058 broad.mit.edu 37 6 169642693 169642694 + Intron INS - C C 2011-2313:2012-360-T g.chr6:169642693_169642694insC uc003qwt.2 - NM_003247 NP_003238 PRKAR1B 5575 broad.mit.edu 37 7 628334 628336 + Intron DEL TGA - - rs150721644 by1000genomes 2011-2313:2012-360-T g.chr7:628334_628336delTGA uc003siu.1 - PRKAR1B_uc003siv.2_Intron|PRKAR1B_uc003siw.1_Intron|PRKAR1B_uc003six.1_Intron NM_002735 NP_002726 PTPRN2 5799 broad.mit.edu 37 7 157582722 157582723 + Intron INS - T T 2011-2313:2012-360-T g.chr7:157582722_157582723insT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158066225 158066226 + Intron INS - GC GC 2011-2313:2012-360-T g.chr7:158066225_158066226insGC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158129924 158129925 + Intron DEL CA - - rs66592921 2011-2313:2012-360-T g.chr7:158129924_158129925delCA uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158316413 158316414 + Intron INS - GTC GTC 2011-2313:2012-360-T g.chr7:158316413_158316414insGTC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 TRAPPC9 83696 broad.mit.edu 37 8 141167309 141167309 + Intron DEL T - - 2011-2313:2012-360-T g.chr8:141167309delT uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 TRAPPC9 83696 broad.mit.edu 37 8 141167330 141167330 + Intron DEL T - - 2011-2313:2012-360-T g.chr8:141167330delT uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 HEATR7A 727957 broad.mit.edu 37 8 145288431 145288432 + Intron INS - C C rs11435979;rs66838432 2011-2313:2012-360-T g.chr8:145288431_145288432insC uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 ARHGAP39 80728 broad.mit.edu 37 8 145913107 145913108 + 5'Flank INS - C C 2011-2313:2012-360-T g.chr8:145913107_145913108insC uc011llk.1 - NM_025251 NP_079527 SEMA4D 10507 broad.mit.edu 37 9 91986360 91986360 + Intron DEL G - - 2011-2313:2012-360-T g.chr9:91986360delG uc011ltm.1 - SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqm.2_5'Flank NM_001142287 NP_001135759 EHMT1 79813 broad.mit.edu 37 9 140610726 140610728 + Intron DEL GTG - - 2011-2313:2012-360-T g.chr9:140610726_140610728delGTG uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 EHMT1 79813 broad.mit.edu 37 9 140615677 140615677 + Intron DEL C - - 2011-2313:2012-360-T g.chr9:140615677delC uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 PPP2R3B 28227 broad.mit.edu 37 X 299263 299264 + Intron INS - C C 2011-2313:2012-360-T g.chrX:299263_299264insC uc004cpg.2 - PPP2R3B_uc004cpf.2_Intron NM_013239 NP_037371 OPHN1 4983 broad.mit.edu 37 X 67459062 67459062 + Intron DEL G - - rs67901004 2011-2313:2012-360-T g.chrX:67459062delG uc004dww.3 - OPHN1_uc011mpg.1_Intron|OPHN1_uc004dwx.2_Intron NM_002547 NP_002538 AGRN 375790 broad.mit.edu 37 1 965088 965089 + Intron INS - CAG CAG 2011-2314:2012-359-T g.chr1:965088_965089insCAG uc001ack.1 + NM_198576 NP_940978 SCNN1D 6339 broad.mit.edu 37 1 1223817 1223818 + Intron INS - CC CC 2011-2314:2012-359-T g.chr1:1223817_1223818insCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 LGR6 59352 broad.mit.edu 37 1 202174977 202174978 + Intron INS - AC AC rs142563752;rs148939225 2011-2314:2012-359-T g.chr1:202174977_202174978insAC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 SYT2 127833 broad.mit.edu 37 1 202594066 202594067 + Intron INS - G G rs148638021 2011-2314:2012-359-T g.chr1:202594066_202594067insG uc001gye.2 - SYT2_uc010pqb.1_Intron|SYT2_uc009xaf.2_Intron NM_001136504 NP_001129976 SYT2 127833 broad.mit.edu 37 1 202594067 202594068 + Intron INS - C C rs148638021 2011-2314:2012-359-T g.chr1:202594067_202594068insC uc001gye.2 - SYT2_uc010pqb.1_Intron|SYT2_uc009xaf.2_Intron NM_001136504 NP_001129976 ODF3 113746 broad.mit.edu 37 11 196406 196407 + 5'Flank INS - A A 2011-2314:2012-359-T g.chr11:196406_196407insA uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 NELL1 4745 broad.mit.edu 37 11 21456992 21456992 + Intron DEL T - - rs71443786 2011-2314:2012-359-T g.chr11:21456992delT uc001mqe.2 + NELL1_uc001mqf.2_Intron|NELL1_uc009yid.2_Intron|NELL1_uc010rdo.1_Intron|NELL1_uc010rdp.1_Intron|NELL1_uc001mqg.2_Intron|NELL1_uc001mqh.2_Intron NM_006157 NP_006148 CD5 921 broad.mit.edu 37 11 60884011 60884012 + Intron INS - CA CA 2011-2314:2012-359-T g.chr11:60884011_60884012insCA uc009ynk.2 + NM_014207 NP_055022 TPCN2 219931 broad.mit.edu 37 11 68832450 68832453 + Intron DEL TGTC - - 2011-2314:2012-359-T g.chr11:68832450_68832453delTGTC uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron NM_139075 NP_620714 B4GALNT3 283358 broad.mit.edu 37 12 620619 620621 + Intron DEL CTT - - rs138069229 2011-2314:2012-359-T g.chr12:620619_620621delCTT uc001qii.1 + NM_173593 NP_775864 B4GALNT3 283358 broad.mit.edu 37 12 621000 621002 + Intron DEL CTT - - 2011-2314:2012-359-T g.chr12:621000_621002delCTT uc001qii.1 + NM_173593 NP_775864 PTPN6 5777 broad.mit.edu 37 12 7069423 7069423 + Intron DEL G - - 2011-2314:2012-359-T g.chr12:7069423delG uc001qsb.2 + PTPN6_uc001qsa.1_Intron|PTPN6_uc010sfr.1_Intron|PTPN6_uc009zfl.1_Intron|PTPN6_uc010sfs.1_Intron NM_002831 NP_002822 TMEM132D 121256 broad.mit.edu 37 12 130232385 130232385 + Intron DEL A - - 2011-2314:2012-359-T g.chr12:130232385delA uc009zyl.1 - NM_133448 NP_597705 GPR133 283383 broad.mit.edu 37 12 131530916 131530916 + Intron DEL C - - rs66746307 2011-2314:2012-359-T g.chr12:131530916delC uc001uit.3 + GPR133_uc010tbm.1_Intron NM_198827 NP_942122 GPR133 283383 broad.mit.edu 37 12 131530932 131530933 + Intron INS - C C rs66640727 2011-2314:2012-359-T g.chr12:131530932_131530933insC uc001uit.3 + GPR133_uc010tbm.1_Intron NM_198827 NP_942122 GPR133 283383 broad.mit.edu 37 12 131530933 131530934 + Intron INS - C C rs66640727 2011-2314:2012-359-T g.chr12:131530933_131530934insC uc001uit.3 + GPR133_uc010tbm.1_Intron NM_198827 NP_942122 IL17D 53342 broad.mit.edu 37 13 21292828 21292829 + Intron INS - ACAC ACAC rs138583770 2011-2314:2012-359-T g.chr13:21292828_21292829insACAC uc001unm.2 + NM_138284 NP_612141 ATP11A 23250 broad.mit.edu 37 13 113433031 113433032 + Intron INS - GAG GAG rs10645187;rs67803605 2011-2314:2012-359-T g.chr13:113433031_113433032insGAG uc001vsi.3 + ATP11A_uc001vsj.3_Intron NM_015205 NP_056020 F7 2155 broad.mit.edu 37 13 113766366 113766367 + Intron INS - CT CT 2011-2314:2012-359-T g.chr13:113766366_113766367insCT uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 FAM70B 348013 broad.mit.edu 37 13 114478037 114478038 + Intron INS - CA CA rs75434298 2011-2314:2012-359-T g.chr13:114478037_114478038insCA uc001vuh.2 + NM_182614 NP_872420 SLCO3A1 28232 broad.mit.edu 37 15 92568679 92568681 + Intron DEL TGC - - 2011-2314:2012-359-T g.chr15:92568679_92568681delTGC uc002bqx.2 + SLCO3A1_uc002bqy.2_Intron|SLCO3A1_uc010boc.1_Intron|SLCO3A1_uc002bqz.1_Intron NM_013272 NP_037404 PIGQ 9091 broad.mit.edu 37 16 621210 621211 + Intron INS - TG TG rs149135121 by1000genomes 2011-2314:2012-359-T g.chr16:621210_621211insTG uc002cho.2 + PIGQ_uc010bqw.2_Intron|PIGQ_uc002chm.2_Intron|PIGQ_uc002chn.2_Intron|PIGQ_uc010uui.1_5'Flank NM_148920 NP_683721 LMF1 64788 broad.mit.edu 37 16 908309 908309 + Intron DEL C - - 2011-2314:2012-359-T g.chr16:908309delC uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 999935 999936 + Intron INS - AC AC rs71142782 2011-2314:2012-359-T g.chr16:999935_999936insAC uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 DPEP1 1800 broad.mit.edu 37 16 89701066 89701066 + Intron DEL C - - 2011-2314:2012-359-T g.chr16:89701066delC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701433 89701433 + Intron DEL C - - 2011-2314:2012-359-T g.chr16:89701433delC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701571 89701572 + Intron INS - T T 2011-2314:2012-359-T g.chr16:89701571_89701572insT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 NXN 64359 broad.mit.edu 37 17 852064 852064 + Intron DEL G - - rs9747533 by1000genomes 2011-2314:2012-359-T g.chr17:852064delG uc002fsa.2 - NM_022463 NP_071908 TIMM22 29928 broad.mit.edu 37 17 897498 897498 + 5'Flank DEL C - - 2011-2314:2012-359-T g.chr17:897498delC uc002fsc.2 + NM_013337 NP_037469 ITGAE 3682 broad.mit.edu 37 17 3699346 3699347 + Intron DEL TG - - rs140432337 2011-2314:2012-359-T g.chr17:3699346_3699347delTG uc002fwo.3 - NM_002208 NP_002199 CLEC10A 10462 broad.mit.edu 37 17 6980639 6980639 + Intron DEL A - - rs68032848 2011-2314:2012-359-T g.chr17:6980639delA uc002gek.2 - CLEC10A_uc002gej.2_Intron|CLEC10A_uc002gel.2_Intron|CLEC10A_uc010clv.1_Intron NM_182906 NP_878910 AATK 9625 broad.mit.edu 37 17 79112383 79112384 + Intron DEL CA - - 2011-2314:2012-359-T g.chr17:79112383_79112384delCA uc010dia.2 - NM_001080395 NP_001073864 BAHCC1 57597 broad.mit.edu 37 17 79399274 79399275 + Intron INS - G G 2011-2314:2012-359-T g.chr17:79399274_79399275insG uc002kaf.2 + NM_001080519 NP_001073988 BAHCC1 57597 broad.mit.edu 37 17 79399284 79399287 + Intron DEL TGGT - - 2011-2314:2012-359-T g.chr17:79399284_79399287delTGGT uc002kaf.2 + NM_001080519 NP_001073988 ZNF536 9745 broad.mit.edu 37 19 30925826 30925827 + Intron INS - TGA TGA 2011-2314:2012-359-T g.chr19:30925826_30925827insTGA uc002nsu.1 + ZNF536_uc010edd.1_Intron NM_014717 NP_055532 SH3YL1 26751 broad.mit.edu 37 2 236216 236218 + Intron DEL GCA - - 2011-2314:2012-359-T g.chr2:236216_236218delGCA uc002qvx.2 - SH3YL1_uc002qvy.2_Intron|SH3YL1_uc002qvz.2_Intron|SH3YL1_uc002qwa.2_Intron|SH3YL1_uc010ewe.2_Intron|SH3YL1_uc002qvu.2_Intron|SH3YL1_uc002qvv.2_Intron|SH3YL1_uc002qvw.2_Intron NM_015677 NP_056492 RMND5A 64795 broad.mit.edu 37 2 87623866 87623867 + Intron INS - A A 2011-2314:2012-359-T g.chr2:87623866_87623867insA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87625480 87625480 + Intron DEL C - - 2011-2314:2012-359-T g.chr2:87625480delC uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87633950 87633950 + Intron DEL C - - 2011-2314:2012-359-T g.chr2:87633950delC uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87641769 87641770 + Intron INS - A A 2011-2314:2012-359-T g.chr2:87641769_87641770insA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87642049 87642049 + Intron DEL G - - 2011-2314:2012-359-T g.chr2:87642049delG uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87644146 87644147 + Intron INS - A A 2011-2314:2012-359-T g.chr2:87644146_87644147insA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87719726 87719726 + Intron DEL C - - 2011-2314:2012-359-T g.chr2:87719726delC uc002srs.3 + SPAG16 79582 broad.mit.edu 37 2 214272618 214272621 + Intron DEL AGAC - - rs138394422 2011-2314:2012-359-T g.chr2:214272618_214272621delAGAC uc002veq.2 + SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Intron|SPAG16_uc010zjk.1_Intron NM_024532 NP_078808 GPR35 2859 broad.mit.edu 37 2 241565247 241565247 + Intron DEL T - - rs66475788 2011-2314:2012-359-T g.chr2:241565247delT uc010fzh.1 + GPR35_uc010fzi.1_Intron NM_005301 NP_005292 GAL3ST2 64090 broad.mit.edu 37 2 242714061 242714061 + 5'Flank DEL G - - rs72031259 2011-2314:2012-359-T g.chr2:242714061delG uc002wcj.1 + NM_022134 NP_071417 GAL3ST2 64090 broad.mit.edu 37 2 242714099 242714099 + 5'Flank DEL C - - 2011-2314:2012-359-T g.chr2:242714099delC uc002wcj.1 + NM_022134 NP_071417 GAL3ST2 64090 broad.mit.edu 37 2 242714119 242714120 + 5'Flank INS - C C 2011-2314:2012-359-T g.chr2:242714119_242714120insC uc002wcj.1 + NM_022134 NP_071417 GAL3ST2 64090 broad.mit.edu 37 2 242714129 242714130 + 5'Flank INS - C C 2011-2314:2012-359-T g.chr2:242714129_242714130insC uc002wcj.1 + NM_022134 NP_071417 SRC 6714 broad.mit.edu 37 20 35990266 35990273 + Intron DEL GTAGAGAT - - rs72271164 2011-2314:2012-359-T g.chr20:35990266_35990273delGTAGAGAT uc002xgx.2 + SRC_uc002xgy.2_Intron NM_005417 NP_005408 TAF4 6874 broad.mit.edu 37 20 60557700 60557701 + Intron INS - C C rs147634297 by1000genomes 2011-2314:2012-359-T g.chr20:60557700_60557701insC uc002ybs.2 - NM_003185 NP_003176 PDE9A 5152 broad.mit.edu 37 21 44189604 44189605 + Intron INS - T T rs143819105 2011-2314:2012-359-T g.chr21:44189604_44189605insT uc002zbm.2 + PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Intron|PDE9A_uc002zbp.2_Intron|PDE9A_uc002zbq.2_Intron|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Intron|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Intron|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Intron|PDE9A_uc002zca.2_Intron|PDE9A_uc002zcb.2_Intron|PDE9A_uc002zcc.2_Intron|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Intron|PDE9A_uc002zcf.2_Intron|PDE9A_uc002zcg.2_Intron|PDE9A_uc002zch.2_Intron NM_002606 NP_002597 CECR2 27443 broad.mit.edu 37 22 17911099 17911100 + Intron INS - T T rs139517696 by1000genomes 2011-2314:2012-359-T g.chr22:17911099_17911100insT uc010gqv.1 + NM_031413 NP_113601 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45197085 45197086 + Intron INS - G G 2011-2314:2012-359-T g.chr22:45197085_45197086insG uc003bfd.2 + PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|ARHGAP8_uc003bfi.2_Intron|ARHGAP8_uc010gzv.2_Intron|ARHGAP8_uc003bfj.2_Intron|ARHGAP8_uc003bfk.2_Intron|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron NM_181335 NP_851852 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45197183 45197184 + Intron INS - A A rs71188487 2011-2314:2012-359-T g.chr22:45197183_45197184insA uc003bfd.2 + PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|ARHGAP8_uc003bfi.2_Intron|ARHGAP8_uc010gzv.2_Intron|ARHGAP8_uc003bfj.2_Intron|ARHGAP8_uc003bfk.2_Intron|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron NM_181335 NP_851852 PHF21B 112885 broad.mit.edu 37 22 45280109 45280111 + Intron DEL ACT - - rs117622017 by1000genomes 2011-2314:2012-359-T g.chr22:45280109_45280111delACT uc003bfn.2 - PHF21B_uc003bfm.2_Intron|PHF21B_uc011aqk.1_Intron|PHF21B_uc011aql.1_Intron NM_138415 NP_612424 TBC1D22A 25771 broad.mit.edu 37 22 47554663 47554664 + Intron DEL AC - - 2011-2314:2012-359-T g.chr22:47554663_47554664delAC uc003bib.2 + TBC1D22A_uc010haf.2_Intron|TBC1D22A_uc003bic.2_Intron|TBC1D22A_uc003bie.2_Intron|TBC1D22A_uc003bid.2_Intron|TBC1D22A_uc010hag.2_Intron|TBC1D22A_uc003bif.2_Intron NM_014346 NP_055161 CTNNB1 1499 broad.mit.edu 37 3 41268677 41268678 + Intron DEL AT - - 2011-2314:2012-359-T g.chr3:41268677_41268678delAT uc010hia.1 + CTNNB1_uc003ckp.2_Intron|CTNNB1_uc003ckq.2_Intron|CTNNB1_uc003ckr.2_Intron|CTNNB1_uc011azf.1_Intron|CTNNB1_uc011azg.1_Intron|uc010hib.1_5'Flank NM_001904 NP_001895 NISCH 11188 broad.mit.edu 37 3 52526843 52526848 + 3'UTR DEL TGTTGC - - rs72297597 2011-2314:2012-359-T g.chr3:52526843_52526848delTGTTGC uc011beg.1 + 22 NISCH_uc003ded.3_3'UTR|NISCH_uc003dee.3_3'UTR|NISCH_uc003deg.1_3'UTR|NISCH_uc003deh.3_3'UTR|STAB1_uc003dei.1_5'Flank|STAB1_uc003dej.2_5'Flank NM_007184 NP_009115 CEP72 55722 broad.mit.edu 37 5 650057 650058 + Intron DEL TG - - 2011-2314:2012-359-T g.chr5:650057_650058delTG uc003jbf.2 + NM_018140 NP_060610 TPPP 11076 broad.mit.edu 37 5 692013 692013 + Intron DEL A - - 2011-2314:2012-359-T g.chr5:692013delA uc003jbh.3 - NM_007030 NP_008961 SLC12A7 10723 broad.mit.edu 37 5 1071352 1071352 + Intron DEL C - - 2011-2314:2012-359-T g.chr5:1071352delC uc003jbu.2 - NM_006598 NP_006589 SLC12A7 10723 broad.mit.edu 37 5 1071374 1071375 + Intron INS - G G 2011-2314:2012-359-T g.chr5:1071374_1071375insG uc003jbu.2 - NM_006598 NP_006589 SLIT3 6586 broad.mit.edu 37 5 168173297 168173302 + Intron DEL ATGTGG - - 2011-2314:2012-359-T g.chr5:168173297_168173302delATGTGG uc003mab.2 - SLIT3_uc010jjg.2_Intron NM_003062 NP_003053 NSD1 64324 broad.mit.edu 37 5 176684218 176684218 + Intron DEL C - - rs151062025 by1000genomes 2011-2314:2012-359-T g.chr5:176684218delC uc003mfr.3 + NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Intron|NSD1_uc011dfx.1_Intron NM_022455 NP_071900 BPHL 670 broad.mit.edu 37 6 3145416 3145416 + Intron DEL G - - rs112208778 2011-2314:2012-359-T g.chr6:3145416delG uc003mva.2 + BPHL_uc003muz.2_Intron|BPHL_uc011dht.1_Intron|BPHL_uc003muy.2_Intron NM_004332 NP_004323 BPHL 670 broad.mit.edu 37 6 3146132 3146133 + Intron INS - G G 2011-2314:2012-359-T g.chr6:3146132_3146133insG uc003mva.2 + BPHL_uc003muz.2_Intron|BPHL_uc011dht.1_Intron|BPHL_uc003muy.2_Intron NM_004332 NP_004323 RNASET2 8635 broad.mit.edu 37 6 167368870 167368871 + Intron DEL CA - - rs140477428 by1000genomes 2011-2314:2012-359-T g.chr6:167368870_167368871delCA uc003qve.2 - RNASET2_uc003qvh.2_Intron|RNASET2_uc003qvf.2_Intron|RNASET2_uc003qvg.2_Intron|RNASET2_uc003qvi.1_Intron NM_003730 NP_003721 THBS2 7058 broad.mit.edu 37 6 169642909 169642909 + Intron DEL C - - 2011-2314:2012-359-T g.chr6:169642909delC uc003qwt.2 - NM_003247 NP_003238 THBS2 7058 broad.mit.edu 37 6 169643206 169643206 + Intron DEL C - - 2011-2314:2012-359-T g.chr6:169643206delC uc003qwt.2 - NM_003247 NP_003238 ADAP1 11033 broad.mit.edu 37 7 982070 982073 + Intron DEL AGGG - - 2011-2314:2012-359-T g.chr7:982070_982073delAGGG uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 982905 982908 + Intron DEL AGGG - - 2011-2314:2012-359-T g.chr7:982905_982908delAGGG uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 C7orf23 79161 broad.mit.edu 37 7 86839066 86839067 + Intron INS - AGTG AGTG 2011-2314:2012-359-T g.chr7:86839066_86839067insAGTG uc003uio.2 - NM_024315 NP_077291 C7orf23 79161 broad.mit.edu 37 7 86839074 86839075 + Intron INS - AC AC 2011-2314:2012-359-T g.chr7:86839074_86839075insAC uc003uio.2 - NM_024315 NP_077291 CUX1 1523 broad.mit.edu 37 7 101860106 101860107 + Intron DEL CA - - rs72011907 2011-2314:2012-359-T g.chr7:101860106_101860107delCA uc003uyx.3 + CUX1_uc003uys.3_Intron|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 DPP6 1804 broad.mit.edu 37 7 154675820 154675821 + Intron INS - CA CA 2011-2314:2012-359-T g.chr7:154675820_154675821insCA uc003wlk.2 + DPP6_uc003wli.2_Intron|DPP6_uc003wlm.2_Intron|DPP6_uc011kvq.1_Intron NM_130797 NP_570629 DPP6 1804 broad.mit.edu 37 7 154675838 154675839 + Intron DEL AT - - 2011-2314:2012-359-T g.chr7:154675838_154675839delAT uc003wlk.2 + DPP6_uc003wli.2_Intron|DPP6_uc003wlm.2_Intron|DPP6_uc011kvq.1_Intron NM_130797 NP_570629 PTPRN2 5799 broad.mit.edu 37 7 157878143 157878144 + Intron DEL GG - - 2011-2314:2012-359-T g.chr7:157878143_157878144delGG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 TRAPPC9 83696 broad.mit.edu 37 8 141120665 141120665 + Intron DEL T - - 2011-2314:2012-359-T g.chr8:141120665delT uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 TRAPPC9 83696 broad.mit.edu 37 8 141167267 141167267 + Intron DEL T - - 2011-2314:2012-359-T g.chr8:141167267delT uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 NUP214 8021 broad.mit.edu 37 9 134014667 134014667 + Splice_Site DEL G - - 2011-2314:2012-359-T g.chr9:134014667delG uc004cag.2 + 10 1117 c.1006_splice c.e10-1 p.I336_splice NUP214_uc004cah.2_Splice_Site_p.I336_splice|NUP214_uc004caf.1_Splice_Site_p.I336_splice NM_005085 NP_005076 TTF1 7270 broad.mit.edu 37 9 135252957 135252958 + Intron INS - TGCA TGCA 2011-2314:2012-359-T g.chr9:135252957_135252958insTGCA uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 TTF1 7270 broad.mit.edu 37 9 135252964 135252964 + Intron DEL T - - 2011-2314:2012-359-T g.chr9:135252964delT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 TTF1 7270 broad.mit.edu 37 9 135252969 135252970 + Intron INS - A A 2011-2314:2012-359-T g.chr9:135252969_135252970insA uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 TTF1 7270 broad.mit.edu 37 9 135253006 135253007 + Intron DEL GT - - 2011-2314:2012-359-T g.chr9:135253006_135253007delGT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 RALGDS 5900 broad.mit.edu 37 9 135999297 135999298 + 5'Flank DEL AC - - rs139270051 2011-2314:2012-359-T g.chr9:135999297_135999298delAC uc004cco.2 - RALGDS_uc004ccp.2_5'Flank|RALGDS_uc004ccq.2_5'Flank|RALGDS_uc004ccr.2_Intron|RALGDS_uc011mcv.1_Intron|RALGDS_uc004ccs.2_Intron|RALGDS_uc011mcw.1_Intron NM_006266 NP_006257 NACC2 138151 broad.mit.edu 37 9 138916001 138916002 + Intron INS - GT GT rs147606119;rs71507095 by1000genomes 2011-2314:2012-359-T g.chr9:138916001_138916002insGT uc004cgw.2 - NACC2_uc010nbh.2_Intron NM_144653 NP_653254 EHMT1 79813 broad.mit.edu 37 9 140610869 140610871 + Intron DEL TGT - - rs3125773 2011-2314:2012-359-T g.chr9:140610869_140610871delTGT uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 EHMT1 79813 broad.mit.edu 37 9 140615774 140615775 + Intron INS - C C rs145983596 by1000genomes 2011-2314:2012-359-T g.chr9:140615774_140615775insC uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 PTCHD2 57540 broad.mit.edu 37 1 11582616 11582617 + Intron INS - A A rs35661522 2011-2315:2012-358-T g.chr1:11582616_11582617insA uc001ash.3 + PTCHD2_uc001asi.1_Intron NM_020780 NP_065831 PTCHD2 57540 broad.mit.edu 37 1 11582620 11582620 + Intron DEL G - - 2011-2315:2012-358-T g.chr1:11582620delG uc001ash.3 + PTCHD2_uc001asi.1_Intron NM_020780 NP_065831 THEM5 284486 broad.mit.edu 37 1 151819757 151819757 + 3'UTR DEL G - - 2011-2315:2012-358-T g.chr1:151819757delG uc009wnd.2 - 6 NM_182578 NP_872384 ADAM12 8038 broad.mit.edu 37 10 127846860 127846861 + Intron DEL GA - - 2011-2315:2012-358-T g.chr10:127846860_127846861delGA uc001ljk.2 - ADAM12_uc010qul.1_Intron|ADAM12_uc001ljm.2_Intron|ADAM12_uc001ljn.2_Intron|ADAM12_uc001ljl.3_Intron NM_003474 NP_003465 MUC5B 727897 broad.mit.edu 37 11 1142289 1142298 + 5'Flank DEL TGTGTGTGCT - - rs149019131 2011-2315:2012-358-T g.chr11:1142289_1142298delTGTGTGTGCT uc009ycr.1 + NM_017511 NP_059981 TPCN2 219931 broad.mit.edu 37 11 68832450 68832453 + Intron DEL TGTC - - 2011-2315:2012-358-T g.chr11:68832450_68832453delTGTC uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron NM_139075 NP_620714 FAT3 120114 broad.mit.edu 37 11 92438785 92438786 + Intron DEL GT - - 2011-2315:2012-358-T g.chr11:92438785_92438786delGT uc001pdj.3 + NM_001008781 NP_001008781 FAT3 120114 broad.mit.edu 37 11 92438797 92438798 + Intron INS - G G 2011-2315:2012-358-T g.chr11:92438797_92438798insG uc001pdj.3 + NM_001008781 NP_001008781 FAT3 120114 broad.mit.edu 37 11 92438828 92438829 + Intron INS - G G 2011-2315:2012-358-T g.chr11:92438828_92438829insG uc001pdj.3 + NM_001008781 NP_001008781 FAT3 120114 broad.mit.edu 37 11 92438837 92438839 + Intron DEL GTA - - rs150857034 2011-2315:2012-358-T g.chr11:92438837_92438839delGTA uc001pdj.3 + NM_001008781 NP_001008781 FAT3 120114 broad.mit.edu 37 11 92438864 92438865 + Intron INS - A A rs116597125 by1000genomes 2011-2315:2012-358-T g.chr11:92438864_92438865insA uc001pdj.3 + NM_001008781 NP_001008781 NINJ2 4815 broad.mit.edu 37 12 691735 691738 + Intron DEL GCAG - - 2011-2315:2012-358-T g.chr12:691735_691738delGCAG uc001qil.2 - NINJ2_uc010sdr.1_Intron|NINJ2_uc010sds.1_Intron NM_016533 NP_057617 LRRK2 120892 broad.mit.edu 37 12 40699523 40699523 + Intron DEL T - - 2011-2315:2012-358-T g.chr12:40699523delT uc001rmg.3 + LRRK2_uc009zjw.2_Intron|LRRK2_uc001rmi.2_Intron NM_198578 NP_940980 RB1 5925 broad.mit.edu 37 13 49034077 49034078 + Intron INS - T T rs71916108;rs66565903 2011-2315:2012-358-T g.chr13:49034077_49034078insT uc001vcb.2 + NM_000321 NP_000312 C13orf35 400165 broad.mit.edu 37 13 113299698 113299706 + 5'Flank DEL GAGGACAGT - - rs67835733;rs71131501;rs117360698;rs1315072 2011-2315:2012-358-T g.chr13:113299698_113299706delGAGGACAGT uc001vsh.1 + NM_207440 NP_997323 PIGQ 9091 broad.mit.edu 37 16 621259 621260 + Intron DEL TG - - rs3074441 2011-2315:2012-358-T g.chr16:621259_621260delTG uc002cho.2 + PIGQ_uc010bqw.2_Intron|PIGQ_uc002chm.2_Intron|PIGQ_uc002chn.2_Intron|PIGQ_uc010uui.1_5'Flank NM_148920 NP_683721 LMF1 64788 broad.mit.edu 37 16 1000029 1000030 + Intron DEL CC - - 2011-2315:2012-358-T g.chr16:1000029_1000030delCC uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 1000031 1000032 + Intron INS - G G 2011-2315:2012-358-T g.chr16:1000031_1000032insG uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 MAPK8IP3 23162 broad.mit.edu 37 16 1786081 1786082 + Intron DEL GA - - 2011-2315:2012-358-T g.chr16:1786081_1786082delGA uc002cmk.2 + MAPK8IP3_uc002cmi.1_Intron|MAPK8IP3_uc002cmj.1_Intron|MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Intron NM_015133 NP_055948 MAPK8IP3 23162 broad.mit.edu 37 16 1788852 1788853 + Intron DEL GT - - 2011-2315:2012-358-T g.chr16:1788852_1788853delGT uc002cmk.2 + MAPK8IP3_uc002cmi.1_Intron|MAPK8IP3_uc002cmj.1_Intron|MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Intron NM_015133 NP_055948 RPH3AL 9501 broad.mit.edu 37 17 138168 138169 + Intron INS - CT CT 2011-2315:2012-358-T g.chr17:138168_138169insCT uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 RPH3AL 9501 broad.mit.edu 37 17 165326 165326 + Intron DEL C - - rs66510420 2011-2315:2012-358-T g.chr17:165326delC uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 PQLC1 80148 broad.mit.edu 37 18 77680191 77680191 + Intron DEL A - - rs10711981 2011-2315:2012-358-T g.chr18:77680191delA uc002lnl.2 - PQLC1_uc010dre.2_Intron|PQLC1_uc002lnk.2_Intron|PQLC1_uc010xfm.1_Intron NM_025078 NP_079354 KDM4B 23030 broad.mit.edu 37 19 5020148 5020149 + Intron INS - CA CA 2011-2315:2012-358-T g.chr19:5020148_5020149insCA uc002mbq.3 + KDM4B_uc010xil.1_Intron|KDM4B_uc010xim.1_Intron NM_015015 NP_055830 RMND5A 64795 broad.mit.edu 37 2 87633950 87633950 + Intron DEL C - - 2011-2315:2012-358-T g.chr2:87633950delC uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87641749 87641750 + Intron INS - A A rs145264498 2011-2315:2012-358-T g.chr2:87641749_87641750insA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87643040 87643048 + Intron DEL AGTCAGCCT - - 2011-2315:2012-358-T g.chr2:87643040_87643048delAGTCAGCCT uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87719781 87719788 + Intron DEL AGCCAGAT - - rs143937270 by1000genomes 2011-2315:2012-358-T g.chr2:87719781_87719788delAGCCAGAT uc002srs.3 + SPAG16 79582 broad.mit.edu 37 2 214272618 214272621 + Intron DEL AGAC - - rs138394422 2011-2315:2012-358-T g.chr2:214272618_214272621delAGAC uc002veq.2 + SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Intron|SPAG16_uc010zjk.1_Intron NM_024532 NP_078808 SGPP2 130367 broad.mit.edu 37 2 223421575 223421575 + Intron DEL T - - 2011-2315:2012-358-T g.chr2:223421575delT uc010zlo.1 + SGPP2_uc010zlp.1_Intron NM_152386 NP_689599 CUL3 8452 broad.mit.edu 37 2 225368380 225368380 + Frame_Shift_Del DEL A - - 2011-2315:2012-358-T g.chr2:225368380delA uc002vny.2 - 9 1750 c.1366delT c.(1366-1368)TCTfs p.S456fs CUL3_uc010zls.1_Frame_Shift_Del_p.S390fs|CUL3_uc010fwy.1_Frame_Shift_Del_p.S462fs NM_003590 NP_003581 C20orf26 26074 broad.mit.edu 37 20 20338154 20338155 + Intron INS - GT GT rs144757305 2011-2315:2012-358-T g.chr20:20338154_20338155insGT uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 TRPM2 7226 broad.mit.edu 37 21 45836663 45836664 + Intron DEL TG - - rs9680313 2011-2315:2012-358-T g.chr21:45836663_45836664delTG uc002zet.1 + TRPM2_uc002zeu.1_Intron|TRPM2_uc002zew.1_Intron|TRPM2_uc010gpt.1_Intron|TRPM2_uc002zex.1_Intron|TRPM2_uc002zey.1_Intron|uc011afe.1_Intron NM_003307 NP_003298 TNK2 10188 broad.mit.edu 37 3 195597873 195597874 + Intron INS - G G rs140349508 by1000genomes 2011-2315:2012-358-T g.chr3:195597873_195597874insG uc003fvu.1 - TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Intron|TNK2_uc003fvs.1_Intron|TNK2_uc003fvt.1_Intron|TNK2_uc010hzw.1_Intron|TNK2_uc003fvv.1_Intron NM_005781 NP_005772 DOK7 285489 broad.mit.edu 37 4 3470174 3470175 + Intron INS - CTGC CTGC rs139750425 by1000genomes 2011-2315:2012-358-T g.chr4:3470174_3470175insCTGC uc003ghd.2 + DOK7_uc003ghe.2_Intron NM_173660 NP_775931 CRMP1 1400 broad.mit.edu 37 4 5858673 5858675 + Intron DEL CAT - - 2011-2315:2012-358-T g.chr4:5858673_5858675delCAT uc003gip.2 - CRMP1_uc003gin.1_Intron|CRMP1_uc003giq.2_Intron|CRMP1_uc003gir.2_Intron|CRMP1_uc003gis.2_Intron NM_001313 NP_001304 CEP72 55722 broad.mit.edu 37 5 649313 649314 + Intron INS - G G 2011-2315:2012-358-T g.chr5:649313_649314insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649579 649580 + Intron INS - G G 2011-2315:2012-358-T g.chr5:649579_649580insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650428 650429 + Intron DEL TG - - 2011-2315:2012-358-T g.chr5:650428_650429delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 651413 651414 + Intron INS - G G rs71921749 2011-2315:2012-358-T g.chr5:651413_651414insG uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1070488 1070489 + Intron INS - G G rs71887531 2011-2315:2012-358-T g.chr5:1070488_1070489insG uc003jbu.2 - NM_006598 NP_006589 SLC12A7 10723 broad.mit.edu 37 5 1071520 1071521 + Intron INS - A A 2011-2315:2012-358-T g.chr5:1071520_1071521insA uc003jbu.2 - NM_006598 NP_006589 NSD1 64324 broad.mit.edu 37 5 176687113 176687113 + Frame_Shift_Del DEL G - - 2011-2315:2012-358-T g.chr5:176687113delG uc003mfr.3 + 14 5228 c.5090delG c.(5089-5091)CGGfs p.R1697fs NSD1_uc003mft.3_Frame_Shift_Del_p.R1428fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.R1594fs|NSD1_uc011dfx.1_Frame_Shift_Del_p.R1345fs NM_022455 NP_071900 ELOVL2 54898 broad.mit.edu 37 6 11037298 11037301 + Intron DEL AGAG - - rs112221288;rs35592700 2011-2315:2012-358-T g.chr6:11037298_11037301delAGAG uc003mzp.3 - NM_017770 NP_060240 HLA-G 3135 broad.mit.edu 37 6 29865448 29865448 + Intron DEL G - - rs9278416 2011-2315:2012-358-T g.chr6:29865448delG uc011dmb.1 + HCG2P7_uc003nof.2_5'Flank NM_002127 NP_002118 ADAP1 11033 broad.mit.edu 37 7 982905 982908 + Intron DEL AGGG - - 2011-2315:2012-358-T g.chr7:982905_982908delAGGG uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 C7orf50 84310 broad.mit.edu 37 7 1051069 1051070 + Intron INS - CA CA rs144280116;rs72401755 by1000genomes 2011-2315:2012-358-T g.chr7:1051069_1051070insCA uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 TRAPPC9 83696 broad.mit.edu 37 8 141167184 141167184 + Intron DEL T - - rs66515425 2011-2315:2012-358-T g.chr8:141167184delT uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 POMT1 10585 broad.mit.edu 37 9 134391263 134391264 + Intron DEL AC - - 2011-2315:2012-358-T g.chr9:134391263_134391264delAC uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 CAMTA1 23261 broad.mit.edu 37 1 7628331 7628333 + Intron DEL CAT - - 2011-2316:2012-312-T g.chr1:7628331_7628333delCAT uc001aoi.2 + NM_015215 NP_056030 BCL9 607 broad.mit.edu 37 1 147094147 147094148 + Frame_Shift_Ins INS - T T 2011-2316:2012-312-T g.chr1:147094147_147094148insT uc001epq.2 + 9 3718_3719 c.2978_2979insT c.(2977-2979)TATfs p.Y993fs BCL9_uc010ozr.1_Frame_Shift_Ins_p.Y919fs NM_004326 NP_004317 KNDC1 85442 broad.mit.edu 37 10 135037274 135037275 + Intron INS - GT GT rs143526042 2011-2316:2012-312-T g.chr10:135037274_135037275insGT uc001llz.1 + NM_152643 NP_689856 TSPAN4 7106 broad.mit.edu 37 11 859451 859452 + Intron INS - T T 2011-2316:2012-312-T g.chr11:859451_859452insT uc001lsd.1 + TSPAN4_uc001lse.1_Intron|TSPAN4_uc001lsf.1_Intron|TSPAN4_uc001lsg.1_Intron|TSPAN4_uc001lsh.1_Intron|TSPAN4_uc001lsi.1_Intron|TSPAN4_uc001lsj.1_Intron|uc001lsk.1_5'Flank NM_003271 NP_003262 SLC22A12 116085 broad.mit.edu 37 11 64363763 64363765 + Intron DEL GCT - - rs61884371 2011-2316:2012-312-T g.chr11:64363763_64363765delGCT uc001oam.1 + SLC22A12_uc009ypr.1_Intron|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.2_Intron NM_144585 NP_653186 SLC22A12 116085 broad.mit.edu 37 11 64363776 64363779 + Intron DEL TTGA - - 2011-2316:2012-312-T g.chr11:64363776_64363779delTTGA uc001oam.1 + SLC22A12_uc009ypr.1_Intron|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.2_Intron NM_144585 NP_653186 B4GALNT3 283358 broad.mit.edu 37 12 622360 622361 + Intron INS - CTT CTT rs146864211 by1000genomes 2011-2316:2012-312-T g.chr12:622360_622361insCTT uc001qii.1 + NM_173593 NP_775864 ACCN2 41 broad.mit.edu 37 12 50464139 50464140 + Intron DEL GT - - 2011-2316:2012-312-T g.chr12:50464139_50464140delGT uc001rvw.2 + ACCN2_uc001rvv.2_Intron|ACCN2_uc009zln.2_Intron|ACCN2_uc009zlo.2_Intron NM_001095 NP_001086 KSR2 283455 broad.mit.edu 37 12 118232000 118232001 + Intron INS - CAA CAA 2011-2316:2012-312-T g.chr12:118232000_118232001insCAA uc001two.2 - NM_173598 NP_775869 KSR2 283455 broad.mit.edu 37 12 118232039 118232040 + Intron DEL CA - - 2011-2316:2012-312-T g.chr12:118232039_118232040delCA uc001two.2 - NM_173598 NP_775869 TMEM132B 114795 broad.mit.edu 37 12 125895208 125895208 + Intron DEL G - - 2011-2316:2012-312-T g.chr12:125895208delG uc001uhe.1 + NM_052907 NP_443139 GOLGA3 2802 broad.mit.edu 37 12 133393755 133393756 + Intron INS - T T 2011-2316:2012-312-T g.chr12:133393755_133393756insT uc001ukz.1 - GOLGA3_uc001ula.1_Intron|GOLGA3_uc001ulb.2_Intron NM_005895 NP_005886 GRK1 6011 broad.mit.edu 37 13 114431297 114431298 + Intron INS - G G rs150389858 by1000genomes 2011-2316:2012-312-T g.chr13:114431297_114431298insG uc010tkf.1 + NM_002929 NP_002920 GRK1 6011 broad.mit.edu 37 13 114431298 114431299 + Intron INS - TG TG rs150389858 by1000genomes 2011-2316:2012-312-T g.chr13:114431298_114431299insTG uc010tkf.1 + NM_002929 NP_002920 MAPK8IP3 23162 broad.mit.edu 37 16 1788301 1788302 + Intron INS - CG CG 2011-2316:2012-312-T g.chr16:1788301_1788302insCG uc002cmk.2 + MAPK8IP3_uc002cmi.1_Intron|MAPK8IP3_uc002cmj.1_Intron|MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Intron NM_015133 NP_055948 ANKRD11 29123 broad.mit.edu 37 16 89356636 89356637 + Intron INS - T T 2011-2316:2012-312-T g.chr16:89356636_89356637insT uc002fmx.1 - ANKRD11_uc002fmy.1_Intron|ANKRD11_uc002fnc.1_Intron|ANKRD11_uc002fnd.2_Intron|ANKRD11_uc002fne.2_Intron|ANKRD11_uc002fnb.1_Intron NM_013275 NP_037407 ABR 29 broad.mit.edu 37 17 1020901 1020902 + Intron INS - T T 2011-2316:2012-312-T g.chr17:1020901_1020902insT uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 ABR 29 broad.mit.edu 37 17 1020929 1020930 + Intron INS - T T 2011-2316:2012-312-T g.chr17:1020929_1020930insT uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 TP53 7157 broad.mit.edu 37 17 7577550 7577550 + Frame_Shift_Del DEL C - - rs28934572 2011-2316:2012-312-T g.chr17:7577550delC uc002gim.2 - 7 925 c.731delG c.(730-732)GGCfs p.G244fs TP53_uc002gig.1_Frame_Shift_Del_p.G244fs|TP53_uc002gih.2_Frame_Shift_Del_p.G244fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.G112fs|TP53_uc010cng.1_Frame_Shift_Del_p.G112fs|TP53_uc002gii.1_Frame_Shift_Del_p.G112fs|TP53_uc010cnh.1_Frame_Shift_Del_p.G244fs|TP53_uc010cni.1_Frame_Shift_Del_p.G244fs|TP53_uc002gij.2_Frame_Shift_Del_p.G244fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.G151fs|TP53_uc002gio.2_Frame_Shift_Del_p.G112fs NM_001126112 NP_001119584 DHRS7C 201140 broad.mit.edu 37 17 9695742 9695743 + 5'Flank INS - TA TA rs73976606;rs146787565 2011-2316:2012-312-T g.chr17:9695742_9695743insTA uc010vvb.1 - DHRS7C_uc010cof.2_5'Flank NM_001105571 NP_001099041 CACNG4 27092 broad.mit.edu 37 17 65022423 65022424 + Intron DEL GT - - 2011-2316:2012-312-T g.chr17:65022423_65022424delGT uc002jft.1 + NM_014405 NP_055220 KATNAL2 83473 broad.mit.edu 37 18 44553381 44553382 + Intron DEL GC - - rs150874267 by1000genomes 2011-2316:2012-312-T g.chr18:44553381_44553382delGC uc002lco.2 + KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Intron NM_031303 NP_112593 CACNG7 59284 broad.mit.edu 37 19 54425084 54425084 + Intron DEL T - - 2011-2316:2012-312-T g.chr19:54425084delT uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 PXDN 7837 broad.mit.edu 37 2 1724095 1724095 + Intron DEL T - - 2011-2316:2012-312-T g.chr2:1724095delT uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 PXDN 7837 broad.mit.edu 37 2 1724097 1724099 + Intron DEL CAC - - 2011-2316:2012-312-T g.chr2:1724097_1724099delCAC uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 TTC15 51112 broad.mit.edu 37 2 3441492 3441492 + Intron DEL A - - 2011-2316:2012-312-T g.chr2:3441492delA uc002qxm.1 + TTC15_uc002qxn.1_Intron|TTC15_uc010ewm.1_Intron NM_016030 NP_057114 RMND5A 64795 broad.mit.edu 37 2 87643656 87643659 + Intron DEL CAGT - - 2011-2316:2012-312-T g.chr2:87643656_87643659delCAGT uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87643658 87643660 + Intron DEL GTC - - 2011-2316:2012-312-T g.chr2:87643658_87643660delGTC uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87645238 87645241 + Intron DEL AGCC - - 2011-2316:2012-312-T g.chr2:87645238_87645241delAGCC uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87719781 87719788 + Intron DEL AGCCAGAT - - rs143937270 by1000genomes 2011-2316:2012-312-T g.chr2:87719781_87719788delAGCCAGAT uc002srs.3 + NFE2L2 4780 broad.mit.edu 37 2 178129391 178129393 + 5'UTR DEL GGC - - 2011-2316:2012-312-T g.chr2:178129391_178129393delGGC uc002ulh.3 - 1 NFE2L2_uc002ulg.3_5'Flank|NFE2L2_uc010zfa.1_5'Flank|NFE2L2_uc002uli.3_Intron|NFE2L2_uc010fra.2_5'Flank|NFE2L2_uc010frb.2_5'Flank NM_006164 NP_006155 KCNQ2 3785 broad.mit.edu 37 20 62074268 62074270 + Intron DEL CAT - - 2011-2316:2012-312-T g.chr20:62074268_62074270delCAT uc002yey.1 - KCNQ2_uc002yez.1_Intron|KCNQ2_uc002yfa.1_Intron|KCNQ2_uc002yfb.1_Intron|KCNQ2_uc011aax.1_Intron|KCNQ2_uc002yfc.1_Intron NM_172107 NP_742105 MPPED1 758 broad.mit.edu 37 22 43828644 43828645 + Intron INS - AGAA AGAA rs72318681 2011-2316:2012-312-T g.chr22:43828644_43828645insAGAA uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 CEP72 55722 broad.mit.edu 37 5 650352 650352 + Intron DEL A - - 2011-2316:2012-312-T g.chr5:650352delA uc003jbf.2 + NM_018140 NP_060610 SYCP2L 221711 broad.mit.edu 37 6 10882361 10882361 + Intron DEL C - - 2011-2316:2012-312-T g.chr6:10882361delC uc011dim.1 + GCM2_uc003mzn.3_5'Flank CAPN11 11131 broad.mit.edu 37 6 44149362 44149365 + Intron DEL ACAT - - rs113916985 2011-2316:2012-312-T g.chr6:44149362_44149365delACAT uc003owt.1 + CAPN11_uc011dvn.1_Intron NM_007058 NP_008989 PSMB1 5689 broad.mit.edu 37 6 170804692 170804694 + Intron DEL GAG - - rs28674183 2011-2316:2012-312-T g.chr6:170804692_170804694delGAG uc003qxq.2 - NM_002793 ADAP1 11033 broad.mit.edu 37 7 945360 945361 + Intron INS - A A rs147722082 by1000genomes 2011-2316:2012-312-T g.chr7:945360_945361insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945716 945717 + Intron INS - A A 2011-2316:2012-312-T g.chr7:945716_945717insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 982905 982908 + Intron DEL AGGG - - 2011-2316:2012-312-T g.chr7:982905_982908delAGGG uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 EGFR 1956 broad.mit.edu 37 7 55234287 55234288 + Intron INS - TGG TGG 2011-2316:2012-312-T g.chr7:55234287_55234288insTGG uc003tqk.2 + EGFR_uc003tqi.2_Intron|EGFR_uc003tqj.2_Intron|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Intron|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron NM_005228 NP_005219 DTX2 113878 broad.mit.edu 37 7 76128106 76128109 + Intron DEL TGTA - - rs10588542 2011-2316:2012-312-T g.chr7:76128106_76128109delTGTA uc003uff.3 + DTX2_uc011kgk.1_Intron|DTX2_uc003ufg.3_Intron|DTX2_uc003ufh.3_Intron|DTX2_uc003ufj.3_Intron|DTX2_uc003ufk.3_Intron|DTX2_uc003ufl.1_Intron|DTX2_uc003ufm.3_5'Flank NM_020892 NP_065943 C7orf23 79161 broad.mit.edu 37 7 86839053 86839054 + Intron INS - GA GA 2011-2316:2012-312-T g.chr7:86839053_86839054insGA uc003uio.2 - NM_024315 NP_077291 C7orf23 79161 broad.mit.edu 37 7 86839098 86839099 + Intron INS - AC AC 2011-2316:2012-312-T g.chr7:86839098_86839099insAC uc003uio.2 - NM_024315 NP_077291 ERICH1 157697 broad.mit.edu 37 8 626446 626446 + Intron DEL G - - 2011-2316:2012-312-T g.chr8:626446delG uc003wph.2 - ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron|ERICH1_uc003wpi.2_5'Flank NM_207332 NP_997215 PCM1 5108 broad.mit.edu 37 8 17871617 17871618 + Intron INS - C C 2011-2316:2012-312-T g.chr8:17871617_17871618insC uc003wyi.3 + PCM1_uc011kyh.1_Intron|PCM1_uc003wyj.3_Intron|PCM1_uc011kyi.1_Intron|PCM1_uc011kyj.1_Intron|PCM1_uc003wyk.3_Intron|PCM1_uc011kyk.1_Intron NM_006197 NP_006188 SCARA5 286133 broad.mit.edu 37 8 27776529 27776531 + Intron DEL GGA - - 2011-2316:2012-312-T g.chr8:27776529_27776531delGGA uc003xgj.2 - SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Intron|SCARA5_uc003xgl.2_Intron NM_173833 NP_776194 COL22A1 169044 broad.mit.edu 37 8 139754517 139754518 + Intron INS - TGG TGG rs140079310 by1000genomes 2011-2316:2012-312-T g.chr8:139754517_139754518insTGG uc003yvd.2 - COL22A1_uc011ljo.1_Intron NM_152888 NP_690848 TRAPPC9 83696 broad.mit.edu 37 8 141120520 141120520 + Intron DEL T - - 2011-2316:2012-312-T g.chr8:141120520delT uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 TRAPPC9 83696 broad.mit.edu 37 8 141120526 141120527 + Intron INS - T T 2011-2316:2012-312-T g.chr8:141120526_141120527insT uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 COL5A1 1289 broad.mit.edu 37 9 137652456 137652457 + Intron DEL CA - - 2011-2316:2012-312-T g.chr9:137652456_137652457delCA uc004cfe.2 + NM_000093 NP_000084 EXD3 54932 broad.mit.edu 37 9 140224526 140224526 + Intron DEL A - - 2011-2316:2012-312-T g.chr9:140224526delA uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron NM_017820 NP_060290 SHOX 6473 broad.mit.edu 37 X 583483 583484 + 5'Flank INS - AG AG 2011-2316:2012-312-T g.chrX:583483_583484insAG uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 SCNN1D 6339 broad.mit.edu 37 1 1224812 1224813 + Intron DEL CC - - 2011-2317:2012-357-T g.chr1:1224812_1224813delCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 SCNN1D 6339 broad.mit.edu 37 1 1225477 1225478 + Intron DEL TC - - 2011-2317:2012-357-T g.chr1:1225477_1225478delTC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 SCNN1D 6339 broad.mit.edu 37 1 1225507 1225508 + Intron DEL CC - - 2011-2317:2012-357-T g.chr1:1225507_1225508delCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 CAMTA1 23261 broad.mit.edu 37 1 7715284 7715285 + Intron DEL AC - - 2011-2317:2012-357-T g.chr1:7715284_7715285delAC uc001aoi.2 + NM_015215 NP_056030 YY1AP1 55249 broad.mit.edu 37 1 155658216 155658218 + Intron DEL TTC - - 2011-2317:2012-357-T g.chr1:155658216_155658218delTTC uc001fln.2 - YY1AP1_uc010pgi.1_In_Frame_Del_p.R13del|YY1AP1_uc001flh.2_In_Frame_Del_p.R13del|YY1AP1_uc009wqt.2_5'UTR|YY1AP1_uc001flk.2_Intron|YY1AP1_uc001fll.2_Intron|YY1AP1_uc009wqv.2_Intron|YY1AP1_uc001flm.2_Intron|YY1AP1_uc001fli.2_Intron|YY1AP1_uc009wqu.2_Intron|YY1AP1_uc001flj.2_Intron|YY1AP1_uc009wqw.2_Intron|YY1AP1_uc001flo.2_Intron|YY1AP1_uc001flp.2_Intron|YY1AP1_uc010pgj.1_Intron|YY1AP1_uc009wqx.2_In_Frame_Del_p.R13del|YY1AP1_uc010pgk.1_In_Frame_Del_p.R13del|DAP3_uc001flq.2_5'Flank|DAP3_uc001flr.2_5'Flank|DAP3_uc001fls.2_5'Flank|DAP3_uc010pgl.1_5'Flank|DAP3_uc001flt.2_5'Flank|DAP3_uc001flu.2_5'Flank|DAP3_uc010pgm.1_5'Flank NM_139118 NP_620829 SMYD3 64754 broad.mit.edu 37 1 246188218 246188219 + Intron INS - A A 2011-2317:2012-357-T g.chr1:246188218_246188219insA uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 SHANK2 22941 broad.mit.edu 37 11 70668939 70668940 + Intron INS - G G rs145988984;rs11237614 by1000genomes 2011-2317:2012-357-T g.chr11:70668939_70668940insG uc001oqc.2 - NM_012309 NP_036441 ST8SIA1 6489 broad.mit.edu 37 12 22473901 22473902 + Intron INS - A A 2011-2317:2012-357-T g.chr12:22473901_22473902insA uc001rfo.3 - ST8SIA1_uc009zix.2_Intron NM_003034 NP_003025 ST8SIA1 6489 broad.mit.edu 37 12 22473905 22473906 + Intron INS - A A 2011-2317:2012-357-T g.chr12:22473905_22473906insA uc001rfo.3 - ST8SIA1_uc009zix.2_Intron NM_003034 NP_003025 NCOR2 9612 broad.mit.edu 37 12 124952858 124952859 + Intron INS - TCC TCC 2011-2317:2012-357-T g.chr12:124952858_124952859insTCC uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 TMEM132D 121256 broad.mit.edu 37 12 129573554 129573554 + Intron DEL A - - 2011-2317:2012-357-T g.chr12:129573554delA uc009zyl.1 - NM_133448 NP_597705 ATP11A 23250 broad.mit.edu 37 13 113369653 113369653 + Intron DEL G - - 2011-2317:2012-357-T g.chr13:113369653delG uc001vsi.3 + ATP11A_uc001vsj.3_Intron NM_015205 NP_056020 CUL4A 8451 broad.mit.edu 37 13 113886410 113886411 + Intron INS - C C rs142402478 by1000genomes 2011-2317:2012-357-T g.chr13:113886410_113886411insC uc010tjy.1 + CUL4A_uc010tjx.1_Intron|CUL4A_uc010agu.2_Intron|CUL4A_uc001vtl.1_5'Flank NM_001008895 NP_001008895 CUL4A 8451 broad.mit.edu 37 13 113886411 113886412 + Intron INS - GC GC rs142402478;rs67118924 by1000genomes 2011-2317:2012-357-T g.chr13:113886411_113886412insGC uc010tjy.1 + CUL4A_uc010tjx.1_Intron|CUL4A_uc010agu.2_Intron|CUL4A_uc001vtl.1_5'Flank NM_001008895 NP_001008895 SERPINA12 145264 broad.mit.edu 37 14 94985364 94985366 + 5'Flank DEL GTA - - 2011-2317:2012-357-T g.chr14:94985364_94985366delGTA uc001ydj.2 - NM_173850 NP_776249 ADAMTSL3 57188 broad.mit.edu 37 15 84598536 84598537 + Intron DEL AC - - 2011-2317:2012-357-T g.chr15:84598536_84598537delAC uc002bjz.3 + ADAMTSL3_uc010bmt.1_Intron|ADAMTSL3_uc010bmu.1_Intron NM_207517 NP_997400 ADAMTS17 170691 broad.mit.edu 37 15 100598506 100598507 + Intron INS - T T rs150896439;rs68090700 by1000genomes 2011-2317:2012-357-T g.chr15:100598506_100598507insT uc002bvv.1 - NM_139057 NP_620688 LMF1 64788 broad.mit.edu 37 16 909720 909720 + Intron DEL C - - 2011-2317:2012-357-T g.chr16:909720delC uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 CMIP 80790 broad.mit.edu 37 16 81702425 81702428 + Intron DEL CACT - - 2011-2317:2012-357-T g.chr16:81702425_81702428delCACT uc002fgp.2 + CMIP_uc002fgq.1_Intron|CMIP_uc010vnq.1_Intron|CMIP_uc002fgr.1_Intron NM_198390 NP_938204 ANKRD11 29123 broad.mit.edu 37 16 89373193 89373196 + Intron DEL ACCT - - 2011-2317:2012-357-T g.chr16:89373193_89373196delACCT uc002fmx.1 - ANKRD11_uc002fmy.1_Intron|ANKRD11_uc002fnc.1_Intron|ANKRD11_uc002fnd.2_Intron|ANKRD11_uc002fne.2_Intron|ANKRD11_uc002fng.1_Intron|ANKRD11_uc002fnf.1_Intron NM_013275 NP_037407 DPEP1 1800 broad.mit.edu 37 16 89701305 89701306 + Intron INS - C C 2011-2317:2012-357-T g.chr16:89701305_89701306insC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701336 89701337 + Intron INS - C C 2011-2317:2012-357-T g.chr16:89701336_89701337insC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701363 89701363 + Intron DEL T - - 2011-2317:2012-357-T g.chr16:89701363delT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 NF1 4763 broad.mit.edu 37 17 29482989 29482989 + Intron DEL T - - 2011-2317:2012-357-T g.chr17:29482989delT uc002hgg.2 + NF1_uc002hge.1_Intron|NF1_uc002hgf.1_Intron|NF1_uc002hgh.2_Intron|NF1_uc010csn.1_5'Flank NM_001042492 NP_001035957 BAHCC1 57597 broad.mit.edu 37 17 79399256 79399256 + Intron DEL A - - 2011-2317:2012-357-T g.chr17:79399256delA uc002kaf.2 + NM_001080519 NP_001073988 ZNF236 7776 broad.mit.edu 37 18 74679304 74679305 + Intron INS - A A 2011-2317:2012-357-T g.chr18:74679304_74679305insA uc002lmi.2 + ZNF236_uc002lmj.2_Intron NM_007345 NP_031371 ZNF236 7776 broad.mit.edu 37 18 74679309 74679310 + Intron INS - T T 2011-2317:2012-357-T g.chr18:74679309_74679310insT uc002lmi.2 + ZNF236_uc002lmj.2_Intron NM_007345 NP_031371 SPTBN4 57731 broad.mit.edu 37 19 41062903 41062903 + Intron DEL C - - rs34510741 2011-2317:2012-357-T g.chr19:41062903delC uc002ony.2 + SPTBN4_uc002onx.2_Intron|SPTBN4_uc002onz.2_Intron|SPTBN4_uc010egx.2_Intron|SPTBN4_uc002ooa.2_Intron NM_020971 NP_066022 ZNF547 284306 broad.mit.edu 37 19 58010893 58010894 + Intron INS - A A 2011-2317:2012-357-T g.chr19:58010893_58010894insA uc002qpm.3 + ZNF773_uc002qox.2_5'Flank|ZNF773_uc002qoy.2_5'Flank|ZNF773_uc002qoz.2_5'Flank ZNF547 284306 broad.mit.edu 37 19 58010895 58010898 + Intron DEL CCTA - - 2011-2317:2012-357-T g.chr19:58010895_58010898delCCTA uc002qpm.3 + ZNF773_uc002qox.2_5'Flank|ZNF773_uc002qoy.2_5'Flank|ZNF773_uc002qoz.2_5'Flank ZNF547 284306 broad.mit.edu 37 19 58010989 58010990 + Intron INS - C C rs113745872 2011-2317:2012-357-T g.chr19:58010989_58010990insC uc002qpm.3 + ZNF773_uc002qox.2_5'Flank|ZNF773_uc002qoy.2_5'Flank|ZNF773_uc002qoz.2_5'Flank PXDN 7837 broad.mit.edu 37 2 1707766 1707767 + Intron INS - A A 2011-2317:2012-357-T g.chr2:1707766_1707767insA uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 RMND5A 64795 broad.mit.edu 37 2 87625949 87625949 + Intron DEL A - - 2011-2317:2012-357-T g.chr2:87625949delA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87643626 87643629 + Intron DEL AGCT - - 2011-2317:2012-357-T g.chr2:87643626_87643629delAGCT uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87643656 87643659 + Intron DEL CAGT - - 2011-2317:2012-357-T g.chr2:87643656_87643659delCAGT uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87644146 87644147 + Intron INS - A A 2011-2317:2012-357-T g.chr2:87644146_87644147insA uc002srs.3 + RAB3GAP1 22930 broad.mit.edu 37 2 135875389 135875390 + Intron INS - GC GC rs72362976 2011-2317:2012-357-T g.chr2:135875389_135875390insGC uc002tuj.2 + RAB3GAP1_uc010fnf.2_Intron|RAB3GAP1_uc010fng.2_Intron|RAB3GAP1_uc010fnh.1_Intron NM_012233 NP_036365 RAB3GAP1 22930 broad.mit.edu 37 2 135875402 135875402 + Intron DEL T - - 2011-2317:2012-357-T g.chr2:135875402delT uc002tuj.2 + RAB3GAP1_uc010fnf.2_Intron|RAB3GAP1_uc010fng.2_Intron|RAB3GAP1_uc010fnh.1_Intron NM_012233 NP_036365 RAB3GAP1 22930 broad.mit.edu 37 2 135875415 135875415 + Intron DEL T - - 2011-2317:2012-357-T g.chr2:135875415delT uc002tuj.2 + RAB3GAP1_uc010fnf.2_Intron|RAB3GAP1_uc010fng.2_Intron|RAB3GAP1_uc010fnh.1_Intron NM_012233 NP_036365 C20orf26 26074 broad.mit.edu 37 20 20338557 20338558 + Intron INS - TG TG 2011-2317:2012-357-T g.chr20:20338557_20338558insTG uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 CHRNA4 1137 broad.mit.edu 37 20 61988540 61988541 + Intron INS - CCGTGTC CCGTGTC rs141158495 by1000genomes 2011-2317:2012-357-T g.chr20:61988540_61988541insCCGTGTC uc002yes.2 - CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_Intron|CHRNA4_uc010gke.1_Intron|CHRNA4_uc002yev.1_Intron|CHRNA4_uc010gkf.1_Intron NM_000744 NP_000735 GMEB2 26205 broad.mit.edu 37 20 62241073 62241074 + Intron DEL CA - - 2011-2317:2012-357-T g.chr20:62241073_62241074delCA uc002yfp.1 - GMEB2_uc002yfq.1_Intron NM_012384 NP_036516 GMEB2 26205 broad.mit.edu 37 20 62241106 62241106 + Intron DEL C - - 2011-2317:2012-357-T g.chr20:62241106delC uc002yfp.1 - GMEB2_uc002yfq.1_Intron NM_012384 NP_036516 PRPF6 24148 broad.mit.edu 37 20 62652916 62652917 + Intron DEL TG - - 2011-2317:2012-357-T g.chr20:62652916_62652917delTG uc002yho.2 + PRPF6_uc002yhp.2_Intron NM_012469 NP_036601 ADARB1 104 broad.mit.edu 37 21 46529242 46529243 + Intron DEL TA - - rs140518083 by1000genomes 2011-2317:2012-357-T g.chr21:46529242_46529243delTA uc002zgy.2 + ADARB1_uc002zgp.2_Intron|ADARB1_uc002zgr.2_Intron|ADARB1_uc002zgs.2_Intron|ADARB1_uc002zgw.2_Intron|ADARB1_uc002zgv.2_Intron|ADARB1_uc002zgt.2_Intron|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_Intron|ADARB1_uc002zgu.2_Intron NM_015833 NP_056648 CACNA1I 8911 broad.mit.edu 37 22 40019630 40019631 + Intron DEL TG - - 2011-2317:2012-357-T g.chr22:40019630_40019631delTG uc003ayc.2 + CACNA1I_uc003ayd.2_Intron|CACNA1I_uc003aye.2_Intron|CACNA1I_uc003ayf.2_Intron NM_021096 NP_066919 FAM19A5 25817 broad.mit.edu 37 22 48925479 48925480 + Intron INS - C C 2011-2317:2012-357-T g.chr22:48925479_48925480insC uc003bim.3 + NM_001082967 NP_001076436 CACNA1D 776 broad.mit.edu 37 3 53839874 53839875 + Intron INS - CCC CCC 2011-2317:2012-357-T g.chr3:53839874_53839875insCCC uc003dgv.3 + CACNA1D_uc003dgu.3_Intron|CACNA1D_uc003dgy.3_Intron|CACNA1D_uc003dgw.3_Intron|CACNA1D_uc011bes.1_Intron NM_001128840 NP_001122312 ROBO2 6092 broad.mit.edu 37 3 77459767 77459767 + Intron DEL T - - 2011-2317:2012-357-T g.chr3:77459767delT uc003dpy.3 + ROBO2_uc003dpz.2_Intron|ROBO2_uc011bgj.1_Intron|ROBO2_uc011bgk.1_Intron NM_002942 NP_002933 ROBO2 6092 broad.mit.edu 37 3 77459772 77459773 + Intron INS - T T 2011-2317:2012-357-T g.chr3:77459772_77459773insT uc003dpy.3 + ROBO2_uc003dpz.2_Intron|ROBO2_uc011bgj.1_Intron|ROBO2_uc011bgk.1_Intron NM_002942 NP_002933 ROBO2 6092 broad.mit.edu 37 3 77459797 77459799 + Intron DEL TTC - - 2011-2317:2012-357-T g.chr3:77459797_77459799delTTC uc003dpy.3 + ROBO2_uc003dpz.2_Intron|ROBO2_uc011bgj.1_Intron|ROBO2_uc011bgk.1_Intron NM_002942 NP_002933 ROBO2 6092 broad.mit.edu 37 3 77459806 77459808 + Intron DEL TCT - - 2011-2317:2012-357-T g.chr3:77459806_77459808delTCT uc003dpy.3 + ROBO2_uc003dpz.2_Intron|ROBO2_uc011bgj.1_Intron|ROBO2_uc011bgk.1_Intron NM_002942 NP_002933 BCL6 604 broad.mit.edu 37 3 187443241 187443242 + Intron INS - ACT ACT rs112603207;rs67024507 by1000genomes 2011-2317:2012-357-T g.chr3:187443241_187443242insACT uc003frp.3 - BCL6_uc011bsf.1_Intron|BCL6_uc010hza.2_Intron|BCL6_uc003frq.1_Intron NM_001130845 NP_001124317 TNK2 10188 broad.mit.edu 37 3 195597917 195597918 + Intron INS - G G 2011-2317:2012-357-T g.chr3:195597917_195597918insG uc003fvu.1 - TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Intron|TNK2_uc003fvs.1_Intron|TNK2_uc003fvt.1_Intron|TNK2_uc010hzw.1_Intron|TNK2_uc003fvv.1_Intron NM_005781 NP_005772 CEP72 55722 broad.mit.edu 37 5 649340 649341 + Intron INS - G G 2011-2317:2012-357-T g.chr5:649340_649341insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649380 649381 + Intron INS - G G 2011-2317:2012-357-T g.chr5:649380_649381insG uc003jbf.2 + NM_018140 NP_060610 TERT 7015 broad.mit.edu 37 5 1273198 1273199 + Intron DEL CA - - rs72327925 2011-2317:2012-357-T g.chr5:1273198_1273199delCA uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 IL6ST 3572 broad.mit.edu 37 5 55278829 55278829 + Intron DEL T - - rs111793262 2011-2317:2012-357-T g.chr5:55278829delT uc003jqq.2 - IL6ST_uc011cqk.1_5'Flank|IL6ST_uc003jqr.2_Intron NM_002184 NP_002175 ADAMTS2 9509 broad.mit.edu 37 5 178561808 178561809 + Intron INS - G G 2011-2317:2012-357-T g.chr5:178561808_178561809insG uc003mjw.2 - NM_014244 NP_055059 ADAMTS2 9509 broad.mit.edu 37 5 178562132 178562132 + Intron DEL C - - 2011-2317:2012-357-T g.chr5:178562132delC uc003mjw.2 - NM_014244 NP_055059 ADAMTS2 9509 broad.mit.edu 37 5 178704796 178704796 + Intron DEL G - - 2011-2317:2012-357-T g.chr5:178704796delG uc003mjw.2 - ADAMTS2_uc011dgm.1_Intron NM_014244 NP_055059 THBS2 7058 broad.mit.edu 37 6 169642777 169642778 + Intron INS - GTG GTG rs149423656 by1000genomes 2011-2317:2012-357-T g.chr6:169642777_169642778insGTG uc003qwt.2 - NM_003247 NP_003238 THBS2 7058 broad.mit.edu 37 6 169642837 169642837 + Intron DEL G - - 2011-2317:2012-357-T g.chr6:169642837delG uc003qwt.2 - NM_003247 NP_003238 THBS2 7058 broad.mit.edu 37 6 169643057 169643058 + Intron INS - C C 2011-2317:2012-357-T g.chr6:169643057_169643058insC uc003qwt.2 - NM_003247 NP_003238 THBS2 7058 broad.mit.edu 37 6 169643060 169643061 + Intron DEL GC - - 2011-2317:2012-357-T g.chr6:169643060_169643061delGC uc003qwt.2 - NM_003247 NP_003238 ADAP1 11033 broad.mit.edu 37 7 945197 945197 + Intron DEL A - - 2011-2317:2012-357-T g.chr7:945197delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945204 945204 + Intron DEL A - - 2011-2317:2012-357-T g.chr7:945204delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945211 945211 + Intron DEL A - - 2011-2317:2012-357-T g.chr7:945211delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945232 945232 + Intron DEL A - - rs143359127 by1000genomes 2011-2317:2012-357-T g.chr7:945232delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945253 945253 + Intron DEL A - - 2011-2317:2012-357-T g.chr7:945253delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945299 945299 + Intron DEL A - - 2011-2317:2012-357-T g.chr7:945299delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945326 945326 + Intron DEL A - - 2011-2317:2012-357-T g.chr7:945326delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945333 945333 + Intron DEL A - - 2011-2317:2012-357-T g.chr7:945333delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945347 945347 + Intron DEL A - - 2011-2317:2012-357-T g.chr7:945347delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 EMID2 136227 broad.mit.edu 37 7 101063985 101063986 + Intron INS - T T 2011-2317:2012-357-T g.chr7:101063985_101063986insT uc010lhy.1 + EMID2_uc003uyo.1_Intron NM_133457 NP_597714 PRKAG2 51422 broad.mit.edu 37 7 151552573 151552574 + Intron INS - CA CA 2011-2317:2012-357-T g.chr7:151552573_151552574insCA uc003wkk.2 - PRKAG2_uc010lqe.1_Intron|PRKAG2_uc003wkm.1_Intron NM_016203 NP_057287 PTPRN2 5799 broad.mit.edu 37 7 158055475 158055476 + Intron DEL AC - - 2011-2317:2012-357-T g.chr7:158055475_158055476delAC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158317179 158317180 + Intron INS - GTC GTC rs10641395;rs35653944 2011-2317:2012-357-T g.chr7:158317179_158317180insGTC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ARHGEF10 9639 broad.mit.edu 37 8 1780798 1780799 + Intron DEL AG - - 2011-2317:2012-357-T g.chr8:1780798_1780799delAG uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 UBXN2B 137886 broad.mit.edu 37 8 59337247 59337247 + Intron DEL G - - 2011-2317:2012-357-T g.chr8:59337247delG uc003xtl.2 + NM_001077619 NP_001071087 TRAPPC9 83696 broad.mit.edu 37 8 141167184 141167184 + Intron DEL T - - rs66515425 2011-2317:2012-357-T g.chr8:141167184delT uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 TOP1MT 116447 broad.mit.edu 37 8 144404254 144404255 + Intron DEL AG - - rs144556994 by1000genomes 2011-2317:2012-357-T g.chr8:144404254_144404255delAG uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 SCNN1D 6339 broad.mit.edu 37 1 1225452 1225453 + Intron INS - CC CC 2011-2318:2012-356-T g.chr1:1225452_1225453insCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 MTOR 2475 broad.mit.edu 37 1 11318617 11318617 + Frame_Shift_Del DEL G - - 2011-2318:2012-356-T g.chr1:11318617delG uc001asd.2 - 3 317 c.196delC c.(196-198)CAAfs p.Q66fs NM_004958 NP_004949 TINAGL1 64129 broad.mit.edu 37 1 32044154 32044155 + Intron DEL GT - - 2011-2318:2012-356-T g.chr1:32044154_32044155delGT uc001bta.2 + TINAGL1_uc001bsz.2_Intron|TINAGL1_uc010ogi.1_Intron|TINAGL1_uc010ogj.1_Intron|TINAGL1_uc010ogk.1_Intron NM_022164 NP_071447 IDI1 3422 broad.mit.edu 37 10 1092917 1092917 + Intron DEL T - - 2011-2318:2012-356-T g.chr10:1092917delT uc001iga.2 - IDI1_uc001ifz.2_5'Flank|IDI1_uc001igb.2_Intron|IDI1_uc001igc.2_Intron|uc001igd.2_5'Flank NM_004508 NP_004499 CD3G 917 broad.mit.edu 37 11 118213518 118213518 + 5'Flank DEL G - - 2011-2318:2012-356-T g.chr11:118213518delG uc001psu.2 + CD3D_uc001pss.1_5'Flank|CD3D_uc001pst.1_5'Flank NM_000073 NP_000064 ST8SIA1 6489 broad.mit.edu 37 12 22473930 22473931 + Intron DEL AA - - 2011-2318:2012-356-T g.chr12:22473930_22473931delAA uc001rfo.3 - ST8SIA1_uc009zix.2_Intron NM_003034 NP_003025 TMEM120B 144404 broad.mit.edu 37 12 122185417 122185418 + Intron INS - CA CA 2011-2318:2012-356-T g.chr12:122185417_122185418insCA uc001ubc.3 + TMEM120B_uc009zxh.2_Intron NM_001080825 NP_001074294 TMEM120B 144404 broad.mit.edu 37 12 122186011 122186012 + Intron INS - CA CA rs112015409 2011-2318:2012-356-T g.chr12:122186011_122186012insCA uc001ubc.3 + TMEM120B_uc009zxh.2_Intron NM_001080825 NP_001074294 DNAH10 196385 broad.mit.edu 37 12 124338408 124338409 + Intron DEL CA - - rs34495607;rs76184058 2011-2318:2012-356-T g.chr12:124338408_124338409delCA uc001uft.3 + NM_207437 NP_997320 PCCA 5095 broad.mit.edu 37 13 101104152 101104153 + Intron DEL TC - - 2011-2318:2012-356-T g.chr13:101104152_101104153delTC uc001voo.2 + PCCA_uc010aga.2_Intron|PCCA_uc010tiz.1_Intron|PCCA_uc001vop.2_Intron NM_000282 NP_000273 PCCA 5095 broad.mit.edu 37 13 101104163 101104163 + Intron DEL C - - 2011-2318:2012-356-T g.chr13:101104163delC uc001voo.2 + PCCA_uc010aga.2_Intron|PCCA_uc010tiz.1_Intron|PCCA_uc001vop.2_Intron NM_000282 NP_000273 PCCA 5095 broad.mit.edu 37 13 101104188 101104189 + Intron INS - CTC CTC 2011-2318:2012-356-T g.chr13:101104188_101104189insCTC uc001voo.2 + PCCA_uc010aga.2_Intron|PCCA_uc010tiz.1_Intron|PCCA_uc001vop.2_Intron NM_000282 NP_000273 RASA3 22821 broad.mit.edu 37 13 114749397 114749398 + Intron DEL TG - - rs35352983 2011-2318:2012-356-T g.chr13:114749397_114749398delTG uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron NM_007368 NP_031394 INF2 64423 broad.mit.edu 37 14 105240509 105240510 + Intron INS - CCA CCA 2011-2318:2012-356-T g.chr14:105240509_105240510insCCA uc010tyi.1 + AKT1_uc001ypk.2_Intron|AKT1_uc001ypl.2_Intron|AKT1_uc010axa.2_Intron|AKT1_uc001ypm.2_Intron|AKT1_uc001ypn.2_Intron|AKT1_uc001ypj.2_5'Flank|AKT1_uc010tyk.1_Intron NM_022489 NP_071934 ATP10A 57194 broad.mit.edu 37 15 26004008 26004009 + Intron INS - CTAA CTAA 2011-2318:2012-356-T g.chr15:26004008_26004009insCTAA uc010ayu.2 - NM_024490 NP_077816 ZNF19 7567 broad.mit.edu 37 16 71509603 71509603 + Frame_Shift_Del DEL C - - 2011-2318:2012-356-T g.chr16:71509603delC uc010cgc.1 - 6 1353 c.847delG c.(847-849)GTTfs p.V283fs ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Frame_Shift_Del_p.V271fs|ZNF19_uc002fal.1_Frame_Shift_Del_p.V271fs|ZNF19_uc002fam.1_Frame_Shift_Del_p.V283fs NM_006961 NP_008892 CPNE7 27132 broad.mit.edu 37 16 89654317 89654318 + Intron INS - C C rs151294363 2011-2318:2012-356-T g.chr16:89654317_89654318insC uc002fnp.2 + CPNE7_uc002fnq.2_Intron NM_014427 NP_055242 CPNE7 27132 broad.mit.edu 37 16 89654603 89654604 + Intron INS - T T 2011-2318:2012-356-T g.chr16:89654603_89654604insT uc002fnp.2 + CPNE7_uc002fnq.2_Intron NM_014427 NP_055242 TP53 7157 broad.mit.edu 37 17 7579584 7579585 + Frame_Shift_Ins INS - G G rs11575998 2011-2318:2012-356-T g.chr17:7579584_7579585insG uc002gim.2 - 4 296_297 c.102_103insC c.(100-105)CCCTTGfs p.P34fs TP53_uc002gig.1_Frame_Shift_Ins_p.P34fs|TP53_uc002gih.2_Frame_Shift_Ins_p.P34fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Ins_p.P34fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P34fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P34fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Frame_Shift_Ins_p.P49fs NM_001126112 NP_001119584 BAHCC1 57597 broad.mit.edu 37 17 79399350 79399350 + Intron DEL G - - 2011-2318:2012-356-T g.chr17:79399350delG uc002kaf.2 + NM_001080519 NP_001073988 BAHCC1 57597 broad.mit.edu 37 17 79399569 79399570 + Intron INS - A A rs138850595 by1000genomes 2011-2318:2012-356-T g.chr17:79399569_79399570insA uc002kaf.2 + NM_001080519 NP_001073988 TBCD 6904 broad.mit.edu 37 17 80807066 80807067 + Intron INS - C C rs57484051 2011-2318:2012-356-T g.chr17:80807066_80807067insC uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 PIK3C3 5289 broad.mit.edu 37 18 39629726 39629726 + Intron DEL T - - 2011-2318:2012-356-T g.chr18:39629726delT uc002lap.2 + PIK3C3_uc010xcl.1_Intron|PIK3C3_uc002laq.2_Intron|PIK3C3_uc002lar.1_3'UTR NM_002647 NP_002638 HDGFRP2 84717 broad.mit.edu 37 19 4493087 4493088 + Intron INS - TGTG TGTG rs143683103 by1000genomes 2011-2318:2012-356-T g.chr19:4493087_4493088insTGTG uc002mao.2 + HDGFRP2_uc002map.2_Intron|HDGFRP2_uc010dtz.1_Intron NM_001001520 NP_001001520 SH3YL1 26751 broad.mit.edu 37 2 235516 235517 + Intron INS - CAA CAA 2011-2318:2012-356-T g.chr2:235516_235517insCAA uc002qvx.2 - SH3YL1_uc002qvy.2_Intron|SH3YL1_uc002qvz.2_Intron|SH3YL1_uc002qwa.2_Intron|SH3YL1_uc010ewe.2_Intron|SH3YL1_uc002qvu.2_Intron|SH3YL1_uc002qvv.2_Intron|SH3YL1_uc002qvw.2_Intron NM_015677 NP_056492 SH3YL1 26751 broad.mit.edu 37 2 235534 235535 + Intron INS - GCA GCA 2011-2318:2012-356-T g.chr2:235534_235535insGCA uc002qvx.2 - SH3YL1_uc002qvy.2_Intron|SH3YL1_uc002qvz.2_Intron|SH3YL1_uc002qwa.2_Intron|SH3YL1_uc010ewe.2_Intron|SH3YL1_uc002qvu.2_Intron|SH3YL1_uc002qvv.2_Intron|SH3YL1_uc002qvw.2_Intron NM_015677 NP_056492 RMND5A 64795 broad.mit.edu 37 2 87633950 87633950 + Intron DEL C - - 2011-2318:2012-356-T g.chr2:87633950delC uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87641742 87641745 + Intron DEL AGCC - - 2011-2318:2012-356-T g.chr2:87641742_87641745delAGCC uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87641749 87641750 + Intron INS - A A rs145264498 2011-2318:2012-356-T g.chr2:87641749_87641750insA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87651177 87651178 + Intron INS - A A 2011-2318:2012-356-T g.chr2:87651177_87651178insA uc002srs.3 + FBLN7 129804 broad.mit.edu 37 2 112918426 112918427 + Intron DEL CA - - rs3080943 2011-2318:2012-356-T g.chr2:112918426_112918427delCA uc002tho.1 + FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Intron|FBLN7_uc010fkj.1_Intron NM_153214 NP_694946 LRP1B 53353 broad.mit.edu 37 2 141250292 141250306 + Intron DEL CTTTAAGTATGTATG - - 2011-2318:2012-356-T g.chr2:141250292_141250306delCTTTAAGTATGTATG uc002tvj.1 - NM_018557 NP_061027 LRP1B 53353 broad.mit.edu 37 2 141359227 141359228 + Intron INS - A A 2011-2318:2012-356-T g.chr2:141359227_141359228insA uc002tvj.1 - NM_018557 NP_061027 TAF4 6874 broad.mit.edu 37 20 60557700 60557701 + Intron INS - C C rs147634297 by1000genomes 2011-2318:2012-356-T g.chr20:60557700_60557701insC uc002ybs.2 - NM_003185 NP_003176 PRIC285 85441 broad.mit.edu 37 20 62190928 62190930 + Intron DEL GGG - - 2011-2318:2012-356-T g.chr20:62190928_62190930delGGG uc002yfm.2 - PRIC285_uc002yfl.1_Intron NM_001037335 NP_001032412 CLTCL1 8218 broad.mit.edu 37 22 19189983 19189984 + Intron INS - C C rs12172332 by1000genomes 2011-2318:2012-356-T g.chr22:19189983_19189984insC uc002zpb.2 - CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Intron|CLTCL1_uc011agt.1_Intron|CLTCL1_uc011agu.1_Intron|CLTCL1_uc010grm.1_Intron|CLTCL1_uc002zpe.2_Intron|CLTCL1_uc002zpd.1_Intron NM_007098 NP_009029 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45196770 45196770 + Intron DEL C - - 2011-2318:2012-356-T g.chr22:45196770delC uc003bfd.2 + PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|ARHGAP8_uc003bfi.2_Intron|ARHGAP8_uc010gzv.2_Intron|ARHGAP8_uc003bfj.2_Intron|ARHGAP8_uc003bfk.2_Intron|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron NM_181335 NP_851852 PHF21B 112885 broad.mit.edu 37 22 45280551 45280552 + Intron INS - CAC CAC rs145192559;rs140838666 by1000genomes 2011-2318:2012-356-T g.chr22:45280551_45280552insCAC uc003bfn.2 - PHF21B_uc003bfm.2_Intron|PHF21B_uc011aqk.1_Intron|PHF21B_uc011aql.1_Intron NM_138415 NP_612424 SEMA3G 56920 broad.mit.edu 37 3 52478750 52478751 + Intron INS - CACC CACC rs11268291 2011-2318:2012-356-T g.chr3:52478750_52478751insCACC uc003dea.1 - NM_020163 NP_064548 SLC12A7 10723 broad.mit.edu 37 5 1070630 1070630 + Intron DEL C - - 2011-2318:2012-356-T g.chr5:1070630delC uc003jbu.2 - NM_006598 NP_006589 SLC12A7 10723 broad.mit.edu 37 5 1072746 1072746 + Intron DEL G - - 2011-2318:2012-356-T g.chr5:1072746delG uc003jbu.2 - NM_006598 NP_006589 NSD1 64324 broad.mit.edu 37 5 176637800 176637800 + Frame_Shift_Del DEL G - - 2011-2318:2012-356-T g.chr5:176637800delG uc003mfr.3 + 5 2538 c.2400delG c.(2398-2400)ATGfs p.M800fs NSD1_uc003mft.3_Frame_Shift_Del_p.M531fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.M697fs|NSD1_uc011dfx.1_Frame_Shift_Del_p.M448fs NM_022455 NP_071900 PSMB1 5689 broad.mit.edu 37 6 170783995 170783995 + Intron DEL C - - 2011-2318:2012-356-T g.chr6:170783995delC uc003qxq.2 - NM_002793 TOP1MT 116447 broad.mit.edu 37 8 144404962 144404963 + Intron DEL AT - - 2011-2318:2012-356-T g.chr8:144404962_144404963delAT uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 TOP1MT 116447 broad.mit.edu 37 8 144405010 144405011 + Intron DEL CA - - 2011-2318:2012-356-T g.chr8:144405010_144405011delCA uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 TOP1MT 116447 broad.mit.edu 37 8 144405023 144405024 + Intron DEL AA - - 2011-2318:2012-356-T g.chr8:144405023_144405024delAA uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 PARP10 84875 broad.mit.edu 37 8 145055521 145055523 + Intron DEL TGA - - rs62530286 by1000genomes 2011-2318:2012-356-T g.chr8:145055521_145055523delTGA uc003zal.3 - PARP10_uc003zak.3_Intron|PARP10_uc011lku.1_Intron|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Intron NM_032789 NP_116178 ARHGAP39 80728 broad.mit.edu 37 8 145913001 145913002 + 5'Flank INS - C C 2011-2318:2012-356-T g.chr8:145913001_145913002insC uc011llk.1 - NM_025251 NP_079527 OLFM1 10439 broad.mit.edu 37 9 137983358 137983361 + Intron DEL CACA - - 2011-2318:2012-356-T g.chr9:137983358_137983361delCACA uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfk.3_Intron|OLFM1_uc004cfm.3_Intron NM_014279 NP_055094 NACC2 138151 broad.mit.edu 37 9 138916349 138916350 + Intron INS - TGTG TGTG rs139555936;rs35455166 by1000genomes 2011-2318:2012-356-T g.chr9:138916349_138916350insTGTG uc004cgw.2 - NACC2_uc010nbh.2_Intron NM_144653 NP_653254 EXD3 54932 broad.mit.edu 37 9 140216934 140216935 + Intron INS - C C rs144308004;rs34579937 by1000genomes 2011-2318:2012-356-T g.chr9:140216934_140216935insC uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron NM_017820 NP_060290 EHMT1 79813 broad.mit.edu 37 9 140615774 140615775 + Intron INS - C C rs145983596 by1000genomes 2011-2318:2012-356-T g.chr9:140615774_140615775insC uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 CRLF2 64109 broad.mit.edu 37 X 1316493 1316496 + Intron DEL CCAG - - 2011-2318:2012-356-T g.chrX:1316493_1316496delCCAG uc004cpm.1 - SCNN1D 6339 broad.mit.edu 37 1 1225515 1225516 + Intron DEL TC - - 2011-2319:2012-355-T g.chr1:1225515_1225516delTC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 CASZ1 54897 broad.mit.edu 37 1 10804785 10804788 + Intron DEL GGGC - - rs148489185 2011-2319:2012-355-T g.chr1:10804785_10804788delGGGC uc001aro.2 - CASZ1_uc001arp.1_Intron NM_001079843 NP_001073312 FAIM3 9214 broad.mit.edu 37 1 207098072 207098073 + 5'Flank INS - GT GT rs141007002 by1000genomes 2011-2319:2012-355-T g.chr1:207098072_207098073insGT uc001hey.2 - FAIM3_uc010prz.1_5'Flank|FAIM3_uc010psa.1_5'Flank|FAIM3_uc010psb.1_5'Flank NM_005449 NP_005440 TRAF3IP3 80342 broad.mit.edu 37 1 209944366 209944367 + Intron DEL TG - - 2011-2319:2012-355-T g.chr1:209944366_209944367delTG uc001hho.2 + TRAF3IP3_uc001hhl.2_Intron|TRAF3IP3_uc001hhm.1_Intron|TRAF3IP3_uc001hhn.2_Intron|TRAF3IP3_uc009xcr.2_Intron NM_025228 NP_079504 WNT9A 7483 broad.mit.edu 37 1 228122741 228122742 + Intron DEL AG - - rs68033125 2011-2319:2012-355-T g.chr1:228122741_228122742delAG uc001hri.2 - NM_003395 NP_003386 RYR2 6262 broad.mit.edu 37 1 237952826 237952827 + Intron INS - ATTA ATTA rs145040623;rs35838826 by1000genomes 2011-2319:2012-355-T g.chr1:237952826_237952827insATTA uc001hyl.1 + RYR2_uc010pyb.1_5'Flank NM_001035 NP_001026 FMN2 56776 broad.mit.edu 37 1 240348419 240348419 + Intron DEL C - - rs56349225 2011-2319:2012-355-T g.chr1:240348419delC uc010pyd.1 + FMN2_uc010pye.1_Intron NM_020066 NP_064450 CCDC6 8030 broad.mit.edu 37 10 61641875 61641876 + Intron DEL GG - - rs71185292;rs28551616 2011-2319:2012-355-T g.chr10:61641875_61641876delGG uc001jks.3 - NM_005436 NP_005427 PTEN 5728 broad.mit.edu 37 10 89626375 89626376 + Intron INS - C C rs142681768;rs66749138 by1000genomes 2011-2319:2012-355-T g.chr10:89626375_89626376insC uc001kfb.2 + NM_000314 NP_000305 C10orf81 79949 broad.mit.edu 37 10 115541171 115541172 + 3'UTR DEL CT - - 2011-2319:2012-355-T g.chr10:115541171_115541172delCT uc009xyc.1 + 13 C10orf81_uc001lar.1_3'UTR|C10orf81_uc001las.1_3'UTR|C10orf81_uc001lau.1_3'UTR|C10orf81_uc001lav.2_5'Flank C10orf81 79949 broad.mit.edu 37 10 115541316 115541317 + 3'UTR INS - A A 2011-2319:2012-355-T g.chr10:115541316_115541317insA uc009xyc.1 + 13 C10orf81_uc001lar.1_3'UTR|C10orf81_uc001las.1_3'UTR|C10orf81_uc001lau.1_3'UTR|C10orf81_uc001lav.2_5'Flank FGFR2 2263 broad.mit.edu 37 10 123263119 123263119 + Intron DEL T - - 2011-2319:2012-355-T g.chr10:123263119delT uc010qtk.1 - FGFR2_uc010qtg.1_Intron|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Intron|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_Intron|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfg.3_Intron NM_000141 NP_000132 CHST15 51363 broad.mit.edu 37 10 125803456 125803456 + Intron DEL G - - 2011-2319:2012-355-T g.chr10:125803456delG uc001lhl.2 - CHST15_uc001lhm.2_Intron|CHST15_uc001lhn.2_Intron|CHST15_uc010que.1_Intron|CHST15_uc001lho.2_Intron NM_015892 NP_056976 C10orf90 118611 broad.mit.edu 37 10 128190512 128190513 + Intron DEL AC - - 2011-2319:2012-355-T g.chr10:128190512_128190513delAC uc001ljq.2 - C10orf90_uc001ljp.2_Intron|C10orf90_uc010qum.1_Intron|C10orf90_uc009yao.2_Intron NM_001004298 NP_001004298 DOCK1 1793 broad.mit.edu 37 10 129195349 129195350 + Intron DEL TA - - 2011-2319:2012-355-T g.chr10:129195349_129195350delTA uc001ljt.2 + DOCK1_uc010qun.1_Intron|DOCK1_uc009yaq.2_Intron NM_001380 NP_001371 JAKMIP3 282973 broad.mit.edu 37 10 133987435 133987437 + Intron DEL TGG - - 2011-2319:2012-355-T g.chr10:133987435_133987437delTGG uc001lkx.3 + JAKMIP3_uc001lky.1_Intron NM_001105521 NP_001098991 INPP5A 3632 broad.mit.edu 37 10 134438019 134438020 + Intron INS - C C rs113440212 2011-2319:2012-355-T g.chr10:134438019_134438020insC uc001llp.2 + INPP5A_uc001llo.1_Intron|INPP5A_uc001llq.2_Intron NM_005539 NP_005530 INPP5A 3632 broad.mit.edu 37 10 134566115 134566116 + Intron DEL GT - - 2011-2319:2012-355-T g.chr10:134566115_134566116delGT uc001llp.2 + INPP5A_uc001llo.1_Intron|INPP5A_uc001llq.2_Intron NM_005539 NP_005530 MUC5B 727897 broad.mit.edu 37 11 1142318 1142319 + 5'Flank INS - GT GT rs113052806 2011-2319:2012-355-T g.chr11:1142318_1142319insGT uc009ycr.1 + NM_017511 NP_059981 BRSK2 9024 broad.mit.edu 37 11 1415886 1415887 + Intron INS - C C 2011-2319:2012-355-T g.chr11:1415886_1415887insC uc001lti.2 + BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001ltj.2_Intron|BRSK2_uc001ltk.2_Intron|BRSK2_uc001ltl.2_Intron NM_003957 NP_003948 CTSD 1509 broad.mit.edu 37 11 1775854 1775854 + Intron DEL C - - rs149957779 by1000genomes 2011-2319:2012-355-T g.chr11:1775854delC uc001luc.1 - CTSD_uc009yda.1_Intron NM_001909 NP_001900 MACROD1 28992 broad.mit.edu 37 11 63777768 63777769 + Intron INS - GTTG GTTG rs143109582 by1000genomes 2011-2319:2012-355-T g.chr11:63777768_63777769insGTTG uc001nyh.2 - NM_014067 NP_054786 SLC22A12 116085 broad.mit.edu 37 11 64363529 64363532 + Intron DEL GATG - - 2011-2319:2012-355-T g.chr11:64363529_64363532delGATG uc001oam.1 + SLC22A12_uc009ypr.1_Intron|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.2_Intron NM_144585 NP_653186 IGSF9B 22997 broad.mit.edu 37 11 133810045 133810046 + Intron DEL AA - - 2011-2319:2012-355-T g.chr11:133810045_133810046delAA uc001qgx.3 - IGSF9B_uc001qgy.1_5'Flank NM_014987 NP_055802 IGSF9B 22997 broad.mit.edu 37 11 133810157 133810158 + Intron DEL CG - - rs147576560 2011-2319:2012-355-T g.chr11:133810157_133810158delCG uc001qgx.3 - IGSF9B_uc001qgy.1_5'Flank NM_014987 NP_055802 B4GALNT3 283358 broad.mit.edu 37 12 620896 620896 + Intron DEL C - - 2011-2319:2012-355-T g.chr12:620896delC uc001qii.1 + NM_173593 NP_775864 B4GALNT3 283358 broad.mit.edu 37 12 620907 620910 + Intron DEL CCAC - - 2011-2319:2012-355-T g.chr12:620907_620910delCCAC uc001qii.1 + NM_173593 NP_775864 B4GALNT3 283358 broad.mit.edu 37 12 620920 620921 + Intron INS - C C 2011-2319:2012-355-T g.chr12:620920_620921insC uc001qii.1 + NM_173593 NP_775864 TSPAN9 10867 broad.mit.edu 37 12 3307988 3307988 + Intron DEL C - - 2011-2319:2012-355-T g.chr12:3307988delC uc001qlp.2 + NM_006675 NP_006666 TSPAN9 10867 broad.mit.edu 37 12 3378433 3378434 + Intron INS - CTCT CTCT 2011-2319:2012-355-T g.chr12:3378433_3378434insCTCT uc001qlp.2 + NM_006675 NP_006666 TMEM120B 144404 broad.mit.edu 37 12 122186134 122186135 + Intron DEL CA - - rs63725760 2011-2319:2012-355-T g.chr12:122186134_122186135delCA uc001ubc.3 + TMEM120B_uc009zxh.2_Intron NM_001080825 NP_001074294 NCOR2 9612 broad.mit.edu 37 12 124952931 124952933 + Intron DEL TCC - - 2011-2319:2012-355-T g.chr12:124952931_124952933delTCC uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 NCOR2 9612 broad.mit.edu 37 12 124953129 124953129 + Intron DEL C - - 2011-2319:2012-355-T g.chr12:124953129delC uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 TMEM132D 121256 broad.mit.edu 37 12 129988543 129988544 + Intron INS - TCA TCA rs141085342;rs149583103 2011-2319:2012-355-T g.chr12:129988543_129988544insTCA uc009zyl.1 - NM_133448 NP_597705 PIWIL1 9271 broad.mit.edu 37 12 130837867 130837868 + Intron INS - TTG TTG rs113853709;rs141217804 2011-2319:2012-355-T g.chr12:130837867_130837868insTTG uc001uik.2 + PIWIL1_uc001uij.1_Intron NM_004764 NP_004755 RB1 5925 broad.mit.edu 37 13 49034038 49034038 + Intron DEL T - - 2011-2319:2012-355-T g.chr13:49034038delT uc001vcb.2 + NM_000321 NP_000312 F7 2155 broad.mit.edu 37 13 113761997 113761998 + Intron INS - T T 2011-2319:2012-355-T g.chr13:113761997_113761998insT uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 F7 2155 broad.mit.edu 37 13 113766100 113766107 + Intron DEL CAAGACAC - - 2011-2319:2012-355-T g.chr13:113766100_113766107delCAAGACAC uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 F7 2155 broad.mit.edu 37 13 113766114 113766115 + Intron DEL CG - - 2011-2319:2012-355-T g.chr13:113766114_113766115delCG uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 F7 2155 broad.mit.edu 37 13 113766163 113766164 + Intron INS - CACT CACT rs12871779 2011-2319:2012-355-T g.chr13:113766163_113766164insCACT uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 F7 2155 broad.mit.edu 37 13 113766366 113766367 + Intron INS - CT CT 2011-2319:2012-355-T g.chr13:113766366_113766367insCT uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 SYNE2 23224 broad.mit.edu 37 14 64636830 64636831 + Intron INS - T T 2011-2319:2012-355-T g.chr14:64636830_64636831insT uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron NM_015180 NP_055995 SYNE2 23224 broad.mit.edu 37 14 64681849 64681850 + Intron INS - A A rs141530850;rs34764844 2011-2319:2012-355-T g.chr14:64681849_64681850insA uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc001xgn.2_Intron|SYNE2_uc001xgo.2_Intron|SYNE2_uc010aqa.2_Intron|SYNE2_uc001xgq.2_Intron|SYNE2_uc001xgr.2_Intron|SYNE2_uc010tsi.1_Intron|SYNE2_uc001xgs.2_Intron|SYNE2_uc001xgt.2_5'Flank NM_015180 NP_055995 RIN3 79890 broad.mit.edu 37 14 93106555 93106558 + Intron DEL CTGA - - rs113342845 2011-2319:2012-355-T g.chr14:93106555_93106558delCTGA uc001yap.2 + RIN3_uc010auk.2_Intron|RIN3_uc001yaq.2_Intron NM_024832 NP_079108 SV2B 9899 broad.mit.edu 37 15 91806461 91806462 + Intron INS - AC AC rs144549827 by1000genomes 2011-2319:2012-355-T g.chr15:91806461_91806462insAC uc002bqv.2 + SV2B_uc002bqt.2_Intron|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_Intron NM_014848 NP_055663 LRRK1 79705 broad.mit.edu 37 15 101481532 101481533 + Intron DEL TC - - rs12913414 2011-2319:2012-355-T g.chr15:101481532_101481533delTC uc002bwr.2 + LRRK1_uc010usb.1_Intron|LRRK1_uc010usc.1_Intron|LRRK1_uc002bwq.1_Intron NM_024652 NP_078928 RAB11FIP3 9727 broad.mit.edu 37 16 554512 554513 + Intron INS - G G 2011-2319:2012-355-T g.chr16:554512_554513insG uc002chf.2 + RAB11FIP3_uc010uuf.1_Intron|RAB11FIP3_uc010uug.1_Intron NM_014700 NP_055515 SOLH 6650 broad.mit.edu 37 16 594701 594702 + Intron INS - CGT CGT 2011-2319:2012-355-T g.chr16:594701_594702insCGT uc002chi.2 + SOLH_uc002chh.1_Intron NM_005632 NP_005623 SOLH 6650 broad.mit.edu 37 16 594715 594716 + Intron INS - CGT CGT 2011-2319:2012-355-T g.chr16:594715_594716insCGT uc002chi.2 + SOLH_uc002chh.1_Intron NM_005632 NP_005623 SOLH 6650 broad.mit.edu 37 16 594831 594832 + Intron INS - T T rs11444365 2011-2319:2012-355-T g.chr16:594831_594832insT uc002chi.2 + SOLH_uc002chh.1_Intron NM_005632 NP_005623 LMF1 64788 broad.mit.edu 37 16 999095 999097 + Intron DEL AAT - - rs34042470 2011-2319:2012-355-T g.chr16:999095_999097delAAT uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 MAPK8IP3 23162 broad.mit.edu 37 16 1786322 1786323 + Intron INS - CCGT CCGT 2011-2319:2012-355-T g.chr16:1786322_1786323insCCGT uc002cmk.2 + MAPK8IP3_uc002cmi.1_Intron|MAPK8IP3_uc002cmj.1_Intron|MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Intron NM_015133 NP_055948 MAPK8IP3 23162 broad.mit.edu 37 16 1787246 1787247 + Intron INS - CCGT CCGT 2011-2319:2012-355-T g.chr16:1787246_1787247insCCGT uc002cmk.2 + MAPK8IP3_uc002cmi.1_Intron|MAPK8IP3_uc002cmj.1_Intron|MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Intron NM_015133 NP_055948 MAPK8IP3 23162 broad.mit.edu 37 16 1788431 1788432 + Intron DEL GA - - 2011-2319:2012-355-T g.chr16:1788431_1788432delGA uc002cmk.2 + MAPK8IP3_uc002cmi.1_Intron|MAPK8IP3_uc002cmj.1_Intron|MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Intron NM_015133 NP_055948 MAPK8IP3 23162 broad.mit.edu 37 16 1790072 1790073 + Intron INS - GT GT rs147521986 2011-2319:2012-355-T g.chr16:1790072_1790073insGT uc002cmk.2 + MAPK8IP3_uc002cmi.1_Intron|MAPK8IP3_uc002cmj.1_Intron|MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Intron NM_015133 NP_055948 CYLD 1540 broad.mit.edu 37 16 50820433 50820434 + Intron INS - GCCGAGGT GCCGAGGT rs144289265;rs149194721 by1000genomes 2011-2319:2012-355-T g.chr16:50820433_50820434insGCCGAGGT uc002egp.1 + CYLD_uc002ego.2_3'UTR|CYLD_uc010cbs.1_Intron|CYLD_uc002egq.1_Intron|CYLD_uc002egr.1_Intron|CYLD_uc002egs.1_Intron NM_015247 NP_056062 KLHDC4 54758 broad.mit.edu 37 16 87772364 87772365 + Intron DEL CA - - 2011-2319:2012-355-T g.chr16:87772364_87772365delCA uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 KLHDC4 54758 broad.mit.edu 37 16 87772475 87772476 + Intron DEL CA - - 2011-2319:2012-355-T g.chr16:87772475_87772476delCA uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 NXN 64359 broad.mit.edu 37 17 713267 713268 + Intron DEL AA - - rs77371838 by1000genomes 2011-2319:2012-355-T g.chr17:713267_713268delAA uc002fsa.2 - NXN_uc010vqd.1_Intron|NXN_uc002frz.2_Intron|NXN_uc010vqe.1_Intron NM_022463 NP_071908 NXN 64359 broad.mit.edu 37 17 716102 716103 + Intron DEL GT - - rs68154102 2011-2319:2012-355-T g.chr17:716102_716103delGT uc002fsa.2 - NXN_uc010vqd.1_Intron|NXN_uc002frz.2_Intron|NXN_uc010vqe.1_Intron NM_022463 NP_071908 NXN 64359 broad.mit.edu 37 17 852913 852913 + Intron DEL C - - rs142569223 by1000genomes 2011-2319:2012-355-T g.chr17:852913delC uc002fsa.2 - NM_022463 NP_071908 TIMM22 29928 broad.mit.edu 37 17 897498 897498 + 5'Flank DEL C - - 2011-2319:2012-355-T g.chr17:897498delC uc002fsc.2 + NM_013337 NP_037469 JUP 3728 broad.mit.edu 37 17 39754467 39754468 + Intron INS - GTG GTG rs147722417 by1000genomes 2011-2319:2012-355-T g.chr17:39754467_39754468insGTG uc010wfs.1 - NM_021991 NP_068831 JUP 3728 broad.mit.edu 37 17 39755356 39755358 + Intron DEL TGG - - 2011-2319:2012-355-T g.chr17:39755356_39755358delTGG uc010wfs.1 - NM_021991 NP_068831 RAB37 326624 broad.mit.edu 37 17 72729616 72729617 + Intron DEL GT - - 2011-2319:2012-355-T g.chr17:72729616_72729617delGT uc010dfu.2 + RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron NM_175738 NP_783865 AATK 9625 broad.mit.edu 37 17 79114473 79114474 + Intron DEL GA - - 2011-2319:2012-355-T g.chr17:79114473_79114474delGA uc010dia.2 - NM_001080395 NP_001073864 AATK 9625 broad.mit.edu 37 17 79114560 79114561 + Intron INS - A A rs144645484 by1000genomes 2011-2319:2012-355-T g.chr17:79114560_79114561insA uc010dia.2 - NM_001080395 NP_001073864 TBCD 6904 broad.mit.edu 37 17 80806756 80806756 + Intron DEL C - - rs67238067 2011-2319:2012-355-T g.chr17:80806756delC uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 TYMS 7298 broad.mit.edu 37 18 667251 667251 + Intron DEL T - - rs207950 2011-2319:2012-355-T g.chr18:667251delT uc010dka.1 + TYMS_uc010dkb.1_Intron|TYMS_uc010dkc.1_Intron NM_001071 NP_001062 LAMA1 284217 broad.mit.edu 37 18 6986110 6986112 + Intron DEL AGA - - 2011-2319:2012-355-T g.chr18:6986110_6986112delAGA uc002knm.2 - LAMA1_uc010wzj.1_Intron NM_005559 NP_005550 GALR1 2587 broad.mit.edu 37 18 74970733 74970735 + Intron DEL TGG - - 2011-2319:2012-355-T g.chr18:74970733_74970735delTGG uc002lms.3 + NM_001480 NP_001471 KCNG2 26251 broad.mit.edu 37 18 77625325 77625326 + Intron DEL GA - - rs10612369 2011-2319:2012-355-T g.chr18:77625325_77625326delGA uc010xfl.1 + NM_012283 NP_036415 TCF3 6929 broad.mit.edu 37 19 1628152 1628153 + Intron INS - G G 2011-2319:2012-355-T g.chr19:1628152_1628153insG uc002ltr.2 - TCF3_uc002ltt.3_Intron|TCF3_uc002ltq.2_Intron|TCF3_uc002lts.1_Intron NM_003200 NP_003191 SPPL2B 56928 broad.mit.edu 37 19 2336898 2336899 + Intron DEL GT - - rs150473920 2011-2319:2012-355-T g.chr19:2336898_2336899delGT uc002lvs.2 + SPPL2B_uc010dsw.1_Intron|SPPL2B_uc010dsy.1_Intron|SPPL2B_uc010dsz.1_Intron|SPPL2B_uc002lvr.2_Intron|SPPL2B_uc010dta.1_5'Flank|SPPL2B_uc002lvu.2_5'Flank NM_152988 NP_694533 ZSCAN22 342945 broad.mit.edu 37 19 58838050 58838051 + 5'Flank INS - T T rs71190023;rs67127736 2011-2319:2012-355-T g.chr19:58838050_58838051insT uc002qsc.2 + NM_181846 NP_862829 ZSCAN22 342945 broad.mit.edu 37 19 58838071 58838071 + 5'Flank DEL T - - rs1265986 2011-2319:2012-355-T g.chr19:58838071delT uc002qsc.2 + NM_181846 NP_862829 ZSCAN22 342945 broad.mit.edu 37 19 58838145 58838146 + 5'Flank INS - T T 2011-2319:2012-355-T g.chr19:58838145_58838146insT uc002qsc.2 + NM_181846 NP_862829 SH3YL1 26751 broad.mit.edu 37 2 235395 235396 + Intron INS - GCA GCA 2011-2319:2012-355-T g.chr2:235395_235396insGCA uc002qvx.2 - SH3YL1_uc002qvy.2_Intron|SH3YL1_uc002qvz.2_Intron|SH3YL1_uc002qwa.2_Intron|SH3YL1_uc010ewe.2_Intron|SH3YL1_uc002qvu.2_Intron|SH3YL1_uc002qvv.2_Intron|SH3YL1_uc002qvw.2_Intron NM_015677 NP_056492 SH3YL1 26751 broad.mit.edu 37 2 235515 235516 + Intron INS - GCA GCA 2011-2319:2012-355-T g.chr2:235515_235516insGCA uc002qvx.2 - SH3YL1_uc002qvy.2_Intron|SH3YL1_uc002qvz.2_Intron|SH3YL1_uc002qwa.2_Intron|SH3YL1_uc010ewe.2_Intron|SH3YL1_uc002qvu.2_Intron|SH3YL1_uc002qvv.2_Intron|SH3YL1_uc002qvw.2_Intron NM_015677 NP_056492 SH3YL1 26751 broad.mit.edu 37 2 235991 235992 + Intron INS - GCA GCA 2011-2319:2012-355-T g.chr2:235991_235992insGCA uc002qvx.2 - SH3YL1_uc002qvy.2_Intron|SH3YL1_uc002qvz.2_Intron|SH3YL1_uc002qwa.2_Intron|SH3YL1_uc010ewe.2_Intron|SH3YL1_uc002qvu.2_Intron|SH3YL1_uc002qvv.2_Intron|SH3YL1_uc002qvw.2_Intron NM_015677 NP_056492 TSSC1 7260 broad.mit.edu 37 2 3203578 3203579 + Intron INS - GA GA rs142971768 by1000genomes 2011-2319:2012-355-T g.chr2:3203578_3203579insGA uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 BCL11A 53335 broad.mit.edu 37 2 60694375 60694376 + Intron INS - TGG TGG 2011-2319:2012-355-T g.chr2:60694375_60694376insTGG uc002sae.1 - BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Intron|BCL11A_uc002sad.1_Intron|BCL11A_uc002saf.1_Intron NM_022893 NP_075044 DYSF 8291 broad.mit.edu 37 2 71845059 71845060 + Intron INS - GGTGG GGTGG 2011-2319:2012-355-T g.chr2:71845059_71845060insGGTGG uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 DYSF 8291 broad.mit.edu 37 2 71845199 71845200 + Intron INS - GT GT 2011-2319:2012-355-T g.chr2:71845199_71845200insGT uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 DYSF 8291 broad.mit.edu 37 2 71845604 71845605 + Intron INS - GT GT rs146080337 2011-2319:2012-355-T g.chr2:71845604_71845605insGT uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 RMND5A 64795 broad.mit.edu 37 2 87623464 87623465 + Intron INS - GCCC GCCC 2011-2319:2012-355-T g.chr2:87623464_87623465insGCCC uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87643626 87643629 + Intron DEL AGCT - - 2011-2319:2012-355-T g.chr2:87643626_87643629delAGCT uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87643664 87643665 + Intron INS - A A 2011-2319:2012-355-T g.chr2:87643664_87643665insA uc002srs.3 + TTN 7273 broad.mit.edu 37 2 179672477 179672478 + 5'Flank DEL CC - - rs72647838 2011-2319:2012-355-T g.chr2:179672477_179672478delCC uc002und.2 - TTN_uc010zfg.1_5'Flank|TTN_uc010zfh.1_5'Flank|TTN_uc010zfi.1_5'Flank|TTN_uc010zfj.1_5'Flank|TTN_uc002unb.2_5'Flank PMS1 5378 broad.mit.edu 37 2 190650302 190650304 + Intron DEL AAA - - 2011-2319:2012-355-T g.chr2:190650302_190650304delAAA uc002urh.3 + PMS1_uc010zga.1_Intron|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.3_Intron|PMS1_uc002uri.3_Intron|PMS1_uc010zgc.1_Intron|PMS1_uc010zgd.1_Intron|PMS1_uc002urj.2_Intron|ORMDL1_uc002urb.3_5'Flank|ORMDL1_uc002urc.3_5'Flank|ORMDL1_uc002urd.3_5'Flank|ORMDL1_uc002ure.3_5'Flank|ORMDL1_uc002urf.3_5'Flank|PMS1_uc010zfz.1_Intron NM_000534 NP_000525 STAT1 6772 broad.mit.edu 37 2 191878116 191878116 + Intron DEL G - - rs45486795 2011-2319:2012-355-T g.chr2:191878116delG uc002usj.2 - STAT1_uc010fse.1_Intron|STAT1_uc002usk.2_Intron|STAT1_uc002usl.2_Intron|STAT1_uc010fsf.1_Intron NM_007315 NP_009330 SPAG16 79582 broad.mit.edu 37 2 214272618 214272621 + Intron DEL AGAC - - rs138394422 2011-2319:2012-355-T g.chr2:214272618_214272621delAGAC uc002veq.2 + SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Intron|SPAG16_uc010zjk.1_Intron NM_024532 NP_078808 CUL3 8452 broad.mit.edu 37 2 225378502 225378502 + Intron DEL G - - rs3215058 2011-2319:2012-355-T g.chr2:225378502delG uc002vny.2 - CUL3_uc010zls.1_Intron|CUL3_uc010fwy.1_Intron NM_003590 NP_003581 MLPH 79083 broad.mit.edu 37 2 238452035 238452035 + Intron DEL A - - 2011-2319:2012-355-T g.chr2:238452035delA uc002vwt.2 + MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Intron|MLPH_uc002vwu.2_Intron|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Intron|MLPH_uc010fyu.2_Intron NM_024101 NP_077006 AGXT 189 broad.mit.edu 37 2 241811775 241811777 + Intron DEL GGC - - rs67019338 2011-2319:2012-355-T g.chr2:241811775_241811777delGGC uc002waa.3 + AGXT_uc010zoi.1_Intron NM_000030 NP_000021 AGXT 189 broad.mit.edu 37 2 241811807 241811809 + Intron DEL GGT - - rs62189565 by1000genomes 2011-2319:2012-355-T g.chr2:241811807_241811809delGGT uc002waa.3 + AGXT_uc010zoi.1_Intron NM_000030 NP_000021 THAP4 51078 broad.mit.edu 37 2 242559574 242559575 + Intron INS - A A 2011-2319:2012-355-T g.chr2:242559574_242559575insA uc002wbt.2 - THAP4_uc002wbs.2_5'Flank NM_015963 NP_057047 CDH4 1002 broad.mit.edu 37 20 59951104 59951105 + Intron INS - TGG TGG 2011-2319:2012-355-T g.chr20:59951104_59951105insTGG uc002ybn.1 + NM_001794 NP_001785 BAGE2 85319 broad.mit.edu 37 21 11021019 11021020 + Intron DEL AA - - 2011-2319:2012-355-T g.chr21:11021019_11021020delAA uc002yit.1 - TPTE_uc002yis.1_Intron NM_182482 NP_872288 ADAMTS5 11096 broad.mit.edu 37 21 28338953 28338954 + 5'UTR DEL GG - - 2011-2319:2012-355-T g.chr21:28338953_28338954delGG uc002ymg.2 - 1 NM_007038 NP_008969 SFRS15 57466 broad.mit.edu 37 21 33044277 33044279 + In_Frame_Del DEL TGT - - 2011-2319:2012-355-T g.chr21:33044277_33044279delTGT uc002ypd.2 - 20 3303_3305 c.2877_2879delACA c.(2875-2880)CCACAG>CCG p.Q966del SFRS15_uc002ype.2_In_Frame_Del_p.Q944del|SFRS15_uc010glu.2_In_Frame_Del_p.Q951del NM_020706 NP_065757 DONSON 29980 broad.mit.edu 37 21 35267902 35267903 + Intron DEL TG - - 2011-2319:2012-355-T g.chr21:35267902_35267903delTG uc002ysn.1 - TRPM2 7226 broad.mit.edu 37 21 45816126 45816126 + Intron DEL G - - 2011-2319:2012-355-T g.chr21:45816126delG uc002zet.1 + TRPM2_uc002zeu.1_Intron|TRPM2_uc002zew.1_Intron|TRPM2_uc010gpt.1_Intron|TRPM2_uc002zex.1_Intron|TRPM2_uc002zey.1_Intron NM_003307 NP_003298 COL18A1 80781 broad.mit.edu 37 21 46903996 46903997 + Intron INS - AC AC rs140323183;rs67197900 by1000genomes 2011-2319:2012-355-T g.chr21:46903996_46903997insAC uc011afs.1 + COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Intron NM_130444 NP_569711 PARVB 29780 broad.mit.edu 37 22 44550819 44550820 + Intron INS - TG TG rs140446126 by1000genomes 2011-2319:2012-355-T g.chr22:44550819_44550820insTG uc003ben.2 + PARVB_uc003bem.2_Intron|PARVB_uc010gzn.2_Intron|PARVB_uc003beo.2_Intron NM_013327 NP_037459 TTC38 55020 broad.mit.edu 37 22 46686481 46686483 + Intron DEL AGG - - rs66702225 2011-2319:2012-355-T g.chr22:46686481_46686483delAGG uc003bhi.2 + TTC38_uc011aqx.1_Intron NM_017931 NP_060401 PDIA5 10954 broad.mit.edu 37 3 122870581 122870582 + Intron INS - CCTG CCTG rs71798258 2011-2319:2012-355-T g.chr3:122870581_122870582insCCTG uc003egc.1 + PDIA5_uc003egd.1_Intron NM_006810 NP_006801 IFT122 55764 broad.mit.edu 37 3 129235585 129235586 + Intron DEL CA - - 2011-2319:2012-355-T g.chr3:129235585_129235586delCA uc003emm.2 + IFT122_uc003eml.2_Intron|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Intron|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Intron NM_052989 NP_443715 GMPS 8833 broad.mit.edu 37 3 155588171 155588172 + 5'Flank INS - C C rs147214770;rs33978589 by1000genomes 2011-2319:2012-355-T g.chr3:155588171_155588172insC uc003faq.2 + GMPS_uc011bom.1_5'Flank NM_003875 NP_003866 PIK3CA 5290 broad.mit.edu 37 3 178865774 178865775 + 5'Flank INS - C C rs144390116;rs67786336 by1000genomes 2011-2319:2012-355-T g.chr3:178865774_178865775insC uc003fjk.2 + uc003fjj.2_5'Flank NM_006218 NP_006209 LMLN 89782 broad.mit.edu 37 3 197765731 197765731 + 3'UTR DEL T - - 2011-2319:2012-355-T g.chr3:197765731delT uc011buo.1 + 16 LMLN_uc003fyt.2_3'UTR|LMLN_uc010iar.2_3'UTR|LMLN_uc010ias.2_3'UTR|LMLN_uc003fyu.2_3'UTR NM_033029 NP_149018 FAM53A 152877 broad.mit.edu 37 4 1651661 1651664 + Intron DEL TGAC - - 2011-2319:2012-355-T g.chr4:1651661_1651664delTGAC uc011bve.1 - FAM53A_uc010ibw.2_Intron NM_001013622 NP_001013644 HTT 3064 broad.mit.edu 37 4 3101357 3101358 + Intron INS - TG TG rs10665872 2011-2319:2012-355-T g.chr4:3101357_3101358insTG uc011bvq.1 + NM_002111 NP_002102 SH3TC1 54436 broad.mit.edu 37 4 8241032 8241037 + Intron DEL ACACAG - - rs10532430 2011-2319:2012-355-T g.chr4:8241032_8241037delACACAG uc003gkv.3 + SH3TC1_uc003gkw.3_Intron|SH3TC1_uc003gkx.3_Intron|SH3TC1_uc003gky.2_Intron NM_018986 NP_061859 ACOX3 8310 broad.mit.edu 37 4 8411334 8411335 + Intron INS - GC GC 2011-2319:2012-355-T g.chr4:8411334_8411335insGC uc010idk.2 - ACOX3_uc003glc.3_Intron|ACOX3_uc003gld.3_Intron|ACOX3_uc003gle.1_Intron NM_003501 NP_003492 PDCD6 10016 broad.mit.edu 37 5 298757 298758 + Intron INS - A A 2011-2319:2012-355-T g.chr5:298757_298758insA uc003jat.1 + PDCD6_uc003jau.1_Intron NM_013232 NP_037364 CEP72 55722 broad.mit.edu 37 5 648709 648710 + Intron DEL TG - - 2011-2319:2012-355-T g.chr5:648709_648710delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649836 649837 + Intron DEL CG - - rs142629110 2011-2319:2012-355-T g.chr5:649836_649837delCG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650352 650352 + Intron DEL A - - 2011-2319:2012-355-T g.chr5:650352delA uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650771 650772 + Intron DEL TG - - 2011-2319:2012-355-T g.chr5:650771_650772delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 651188 651189 + Intron INS - G G 2011-2319:2012-355-T g.chr5:651188_651189insG uc003jbf.2 + NM_018140 NP_060610 NKD2 85409 broad.mit.edu 37 5 1026064 1026065 + Intron INS - A A 2011-2319:2012-355-T g.chr5:1026064_1026065insA uc003jbt.1 + NKD2_uc010itf.1_Intron NM_033120 NP_149111 NKD2 85409 broad.mit.edu 37 5 1037066 1037067 + Intron DEL GT - - rs67132510 2011-2319:2012-355-T g.chr5:1037066_1037067delGT uc003jbt.1 + NKD2_uc010itf.1_Intron NM_033120 NP_149111 SLC12A7 10723 broad.mit.edu 37 5 1070406 1070407 + Intron INS - G G rs67432907;rs66939782 2011-2319:2012-355-T g.chr5:1070406_1070407insG uc003jbu.2 - NM_006598 NP_006589 SLC12A7 10723 broad.mit.edu 37 5 1072547 1072547 + Intron DEL G - - 2011-2319:2012-355-T g.chr5:1072547delG uc003jbu.2 - NM_006598 NP_006589 TERT 7015 broad.mit.edu 37 5 1273198 1273199 + Intron DEL CA - - rs72327925 2011-2319:2012-355-T g.chr5:1273198_1273199delCA uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 ADAMTS16 170690 broad.mit.edu 37 5 5305468 5305469 + Intron INS - CA CA rs140501036 by1000genomes 2011-2319:2012-355-T g.chr5:5305468_5305469insCA uc003jdl.2 + NM_139056 NP_620687 CTNND2 1501 broad.mit.edu 37 5 11181977 11181977 + Intron DEL T - - rs146192898 by1000genomes 2011-2319:2012-355-T g.chr5:11181977delT uc003jfa.1 - CTNND2_uc010itt.2_Intron|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_Intron NM_001332 NP_001323 ADAMTS12 81792 broad.mit.edu 37 5 33627479 33627481 + Intron DEL TGG - - rs149668162 2011-2319:2012-355-T g.chr5:33627479_33627481delTGG uc003jia.1 - ADAMTS12_uc010iuq.1_Intron NM_030955 NP_112217 RASA1 5921 broad.mit.edu 37 5 86662349 86662350 + Intron INS - A A rs138131892 by1000genomes 2011-2319:2012-355-T g.chr5:86662349_86662350insA uc003kiw.2 + RASA1_uc010jav.2_Intron|RASA1_uc003kix.2_Intron|RASA1_uc011ctv.1_Intron|RASA1_uc011ctw.1_Intron|RASA1_uc010jaw.2_Intron NM_002890 NP_002881 HMP19 51617 broad.mit.edu 37 5 173495544 173495545 + Intron INS - TC TC rs148558065 by1000genomes 2011-2319:2012-355-T g.chr5:173495544_173495545insTC uc003mcx.2 + NM_015980 NP_057064 ADAMTS2 9509 broad.mit.edu 37 5 178742326 178742327 + Intron INS - TG TG 2011-2319:2012-355-T g.chr5:178742326_178742327insTG uc003mjw.2 - ADAMTS2_uc011dgm.1_Intron NM_014244 NP_055059 BPHL 670 broad.mit.edu 37 6 3146132 3146133 + Intron INS - G G 2011-2319:2012-355-T g.chr6:3146132_3146133insG uc003mva.2 + BPHL_uc003muz.2_Intron|BPHL_uc011dht.1_Intron|BPHL_uc003muy.2_Intron NM_004332 NP_004323 HLA-G 3135 broad.mit.edu 37 6 29909251 29909252 + Intron INS - A A rs141294580;rs9280787 by1000genomes 2011-2319:2012-355-T g.chr6:29909251_29909252insA uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'Flank|HLA-A_uc003nok.2_5'Flank|HLA-A_uc003nol.2_5'Flank|HLA-A_uc003non.2_5'Flank|HLA-A_uc003noo.2_5'Flank|HLA-A_uc010jrr.2_5'Flank|HLA-A_uc003nom.2_5'Flank|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank NM_002127 NP_002118 HLA-A 3105 broad.mit.edu 37 6 29911587 29911588 + Intron INS - A A rs9280789;rs17179480 2011-2319:2012-355-T g.chr6:29911587_29911588insA uc003nol.2 + HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Intron|HLA-A_uc003nok.2_Intron|HLA-A_uc003non.2_Intron|HLA-A_uc003noo.2_Intron|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_Intron|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_Intron|HLA-A_uc011dmd.1_Intron NM_002116 NP_002107 HLA-A 3105 broad.mit.edu 37 6 29911588 29911589 + Intron INS - ACA ACA rs17179480;rs41542314 2011-2319:2012-355-T g.chr6:29911588_29911589insACA uc003nol.2 + HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Intron|HLA-A_uc003nok.2_Intron|HLA-A_uc003non.2_Intron|HLA-A_uc003noo.2_Intron|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_Intron|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_Intron|HLA-A_uc011dmd.1_Intron NM_002116 NP_002107 HLA-C 3107 broad.mit.edu 37 6 31239151 31239151 + Intron DEL A - - rs67420880 2011-2319:2012-355-T g.chr6:31239151delA uc003nsy.2 - HLA-C_uc011dnj.1_Intron|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Intron|HLA-C_uc010jsl.2_Intron|HLA-C_uc003nta.2_Intron|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Intron|HLA-B_uc003ntf.2_Intron NM_002117 NP_002108 HLA-B 3106 broad.mit.edu 37 6 31321781 31321784 + 3'UTR DEL AAGT - - 2011-2319:2012-355-T g.chr6:31321781_31321784delAAGT uc003nth.2 - 8 HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_3'UTR NM_005514 NP_005505 PACRG 135138 broad.mit.edu 37 6 163296218 163296219 + Intron DEL CA - - rs149517993 2011-2319:2012-355-T g.chr6:163296218_163296219delCA uc003qua.2 + PACRG_uc003qub.2_Intron|PACRG_uc003quc.2_Intron NM_152410 NP_689623 SMOC2 64094 broad.mit.edu 37 6 169015281 169015282 + Intron DEL GG - - 2011-2319:2012-355-T g.chr6:169015281_169015282delGG uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 C7orf50 84310 broad.mit.edu 37 7 1042516 1042517 + Intron INS - A A 2011-2319:2012-355-T g.chr7:1042516_1042517insA uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 C7orf50 84310 broad.mit.edu 37 7 1051069 1051070 + Intron INS - CA CA rs144280116;rs72401755 by1000genomes 2011-2319:2012-355-T g.chr7:1051069_1051070insCA uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 C7orf50 84310 broad.mit.edu 37 7 1110189 1110190 + Intron DEL CA - - 2011-2319:2012-355-T g.chr7:1110189_1110190delCA uc003sju.2 - C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 C7orf50 84310 broad.mit.edu 37 7 1110263 1110264 + Intron INS - A A rs141155109 by1000genomes 2011-2319:2012-355-T g.chr7:1110263_1110264insA uc003sju.2 - C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 RPA3 6119 broad.mit.edu 37 7 7712942 7712944 + Intron DEL AGC - - rs10527750;rs5882133 2011-2319:2012-355-T g.chr7:7712942_7712944delAGC uc003sri.2 - uc011jxf.1_5'UTR NM_002947 NP_002938 AUTS2 26053 broad.mit.edu 37 7 69961434 69961435 + Intron INS - CACCCCACT CACCCCACT 2011-2319:2012-355-T g.chr7:69961434_69961435insCACCCCACT uc003tvw.3 + AUTS2_uc003tvx.3_Intron NM_015570 NP_056385 AUTS2 26053 broad.mit.edu 37 7 69961469 69961470 + Intron DEL CA - - 2011-2319:2012-355-T g.chr7:69961469_69961470delCA uc003tvw.3 + AUTS2_uc003tvx.3_Intron NM_015570 NP_056385 PTPRN2 5799 broad.mit.edu 37 7 157864404 157864406 + Intron DEL CTG - - rs148088938 by1000genomes 2011-2319:2012-355-T g.chr7:157864404_157864406delCTG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc003wnt.1_5'Flank NM_002847 NP_002838 ERICH1 157697 broad.mit.edu 37 8 626446 626446 + Intron DEL G - - 2011-2319:2012-355-T g.chr8:626446delG uc003wph.2 - ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron|ERICH1_uc003wpi.2_5'Flank NM_207332 NP_997215 ARHGEF10 9639 broad.mit.edu 37 8 1780691 1780692 + Intron DEL TA - - rs62639090 2011-2319:2012-355-T g.chr8:1780691_1780692delTA uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 ARHGEF10 9639 broad.mit.edu 37 8 1781156 1781157 + Intron DEL AG - - 2011-2319:2012-355-T g.chr8:1781156_1781157delAG uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 MMP16 4325 broad.mit.edu 37 8 89340017 89340022 + 5'Flank DEL ACACAG - - rs59013136 2011-2319:2012-355-T g.chr8:89340017_89340022delACACAG uc003yeb.3 - MMP16_uc003yec.2_5'Flank NM_005941 NP_005932 COL22A1 169044 broad.mit.edu 37 8 139754199 139754204 + Intron DEL GTGATG - - rs113284336;rs72316838;rs71949458 2011-2319:2012-355-T g.chr8:139754199_139754204delGTGATG uc003yvd.2 - COL22A1_uc011ljo.1_Intron NM_152888 NP_690848 COL22A1 169044 broad.mit.edu 37 8 139817035 139817036 + Intron INS - TA TA rs113949514;rs71316361 2011-2319:2012-355-T g.chr8:139817035_139817036insTA uc003yvd.2 - NM_152888 NP_690848 COL22A1 169044 broad.mit.edu 37 8 139817380 139817381 + Intron DEL GT - - rs147343259 2011-2319:2012-355-T g.chr8:139817380_139817381delGT uc003yvd.2 - NM_152888 NP_690848 TOP1MT 116447 broad.mit.edu 37 8 144404143 144404144 + Intron INS - CA CA 2011-2319:2012-355-T g.chr8:144404143_144404144insCA uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 ARHGAP39 80728 broad.mit.edu 37 8 145913001 145913002 + 5'Flank INS - C C 2011-2319:2012-355-T g.chr8:145913001_145913002insC uc011llk.1 - NM_025251 NP_079527 ARHGAP39 80728 broad.mit.edu 37 8 145913072 145913073 + 5'Flank INS - C C 2011-2319:2012-355-T g.chr8:145913072_145913073insC uc011llk.1 - NM_025251 NP_079527 ZNF16 7564 broad.mit.edu 37 8 146172196 146172197 + Intron INS - C C rs77821487 by1000genomes 2011-2319:2012-355-T g.chr8:146172196_146172197insC uc003zet.2 - ZNF16_uc003zeu.2_Intron NM_001029976 NP_001025147 ZNF16 7564 broad.mit.edu 37 8 146172390 146172391 + Intron DEL CT - - rs66905525 2011-2319:2012-355-T g.chr8:146172390_146172391delCT uc003zet.2 - ZNF16_uc003zeu.2_Intron NM_001029976 NP_001025147 GOLM1 51280 broad.mit.edu 37 9 88668252 88668256 + Intron DEL CCACG - - rs139413631;rs117546243 by1000genomes;byFrequency;by1000genomes 2011-2319:2012-355-T g.chr9:88668252_88668256delCCACG uc004aol.2 - GOLM1_uc010mqd.1_Intron|GOLM1_uc004aom.2_Intron NM_016548 NP_057632 FIBCD1 84929 broad.mit.edu 37 9 133805822 133805823 + Intron INS - GGGGAGACGC GGGGAGACGC rs145492428 by1000genomes 2011-2319:2012-355-T g.chr9:133805822_133805823insGGGGAGACGC uc004bzz.2 - FIBCD1_uc011mcc.1_Intron|FIBCD1_uc011mcd.1_Intron NM_032843 NP_116232 TTF1 7270 broad.mit.edu 37 9 135253604 135253605 + Intron INS - GT GT rs146418873 by1000genomes 2011-2319:2012-355-T g.chr9:135253604_135253605insGT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 C9orf171 389799 broad.mit.edu 37 9 135418907 135418907 + Intron DEL A - - rs113401480 2011-2319:2012-355-T g.chr9:135418907delA uc004cbn.2 + C9orf171_uc004cbo.2_Intron NM_207417 NP_997300 EHMT1 79813 broad.mit.edu 37 9 140610851 140610853 + Intron DEL TGG - - 2011-2319:2012-355-T g.chr9:140610851_140610853delTGG uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 EHMT1 79813 broad.mit.edu 37 9 140610880 140610882 + Intron DEL TGG - - 2011-2319:2012-355-T g.chr9:140610880_140610882delTGG uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 EHMT1 79813 broad.mit.edu 37 9 140610909 140610911 + Intron DEL TGG - - rs10604097;rs111959714 2011-2319:2012-355-T g.chr9:140610909_140610911delTGG uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 PPP2R3B 28227 broad.mit.edu 37 X 339765 339768 + Intron DEL TGTG - - 2011-2319:2012-355-T g.chrX:339765_339768delTGTG uc004cpg.2 - PPP2R3B_uc011mha.1_Intron NM_013239 NP_037371 PPP2R3B 28227 broad.mit.edu 37 X 339804 339805 + Intron INS - TG TG 2011-2319:2012-355-T g.chrX:339804_339805insTG uc004cpg.2 - PPP2R3B_uc011mha.1_Intron NM_013239 NP_037371 SHOX 6473 broad.mit.edu 37 X 583931 583933 + 5'Flank DEL AAG - - 2011-2319:2012-355-T g.chrX:583931_583933delAAG uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 SHOX 6473 broad.mit.edu 37 X 583942 583944 + 5'Flank DEL GAC - - 2011-2319:2012-355-T g.chrX:583942_583944delGAC uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 SHOX 6473 broad.mit.edu 37 X 583955 583955 + 5'Flank DEL G - - 2011-2319:2012-355-T g.chrX:583955delG uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 CSF2RA 1438 broad.mit.edu 37 X 1386903 1386904 + 5'Flank DEL AA - - 2011-2319:2012-355-T g.chrX:1386903_1386904delAA uc010nct.2 + CSF2RA_uc011mhb.1_5'Flank|CSF2RA_uc004cpq.2_5'Flank|CSF2RA_uc004cpn.2_5'Flank|CSF2RA_uc004cpo.2_5'Flank|CSF2RA_uc010ncu.2_5'Flank|CSF2RA_uc011mhc.1_5'Flank|CSF2RA_uc004cpp.2_5'Flank NM_001161529 NP_001155001 DHRSX 207063 broad.mit.edu 37 X 2300710 2300711 + Intron INS - CAC CAC 2011-2319:2012-355-T g.chrX:2300710_2300711insCAC uc004cqf.3 - NM_145177 NP_660160 DDX3X 1654 broad.mit.edu 37 X 41200863 41200863 + Frame_Shift_Del DEL G - - 2011-2319:2012-355-T g.chrX:41200863delG uc004dfe.2 + 4 1133 c.278delG c.(277-279)AGGfs p.R93fs DDX3X_uc010nhf.1_Frame_Shift_Del_p.R77fs|DDX3X_uc004dff.2_Frame_Shift_Del_p.R93fs|DDX3X_uc011mkq.1_Frame_Shift_Del_p.R77fs|DDX3X_uc011mkr.1_Frame_Shift_Del_p.R93fs|DDX3X_uc011mks.1_Frame_Shift_Del_p.R93fs|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA NM_001356 NP_001347 ARID1A 8289 broad.mit.edu 37 1 27106384 27106385 + Frame_Shift_Del DEL TT - - 2011-2320:2012-354-T g.chr1:27106384_27106385delTT uc001bmv.1 + 20 6368_6369 c.5995_5996delTT c.(5995-5997)TTTfs p.F1999fs ARID1A_uc001bmu.1_Frame_Shift_Del_p.F1782fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.F845fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.F327fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.F241fs NM_006015 NP_006006 MACF1 23499 broad.mit.edu 37 1 39806708 39806708 + Intron DEL T - - 2011-2320:2012-354-T g.chr1:39806708delT uc010oiu.1 + MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 LOC642587 642587 broad.mit.edu 37 1 209605636 209605637 + In_Frame_Ins INS - AGC AGC rs146499758;rs3842530 by1000genomes 2011-2320:2012-354-T g.chr1:209605636_209605637insAGC uc009xcn.2 + 4 634_635 c.251_252insAGC c.(250-252)GTA>GTAGCA p.97_98insA NM_001104548 NP_001098018 SLC35F3 148641 broad.mit.edu 37 1 234234084 234234086 + Intron DEL TGG - - 2011-2320:2012-354-T g.chr1:234234084_234234086delTGG uc001hvy.1 + NM_173508 NP_775779 TMEM132D 121256 broad.mit.edu 37 12 130232115 130232116 + Intron DEL AC - - 2011-2320:2012-354-T g.chr12:130232115_130232116delAC uc009zyl.1 - NM_133448 NP_597705 SLC7A1 6541 broad.mit.edu 37 13 30133609 30133609 + Intron DEL G - - rs71090264 2011-2320:2012-354-T g.chr13:30133609delG uc001uso.2 - NM_003045 NP_003036 ATP11A 23250 broad.mit.edu 37 13 113369779 113369780 + Intron INS - C C rs6577113;rs11415797 2011-2320:2012-354-T g.chr13:113369779_113369780insC uc001vsi.3 + ATP11A_uc001vsj.3_Intron NM_015205 NP_056020 ATP11A 23250 broad.mit.edu 37 13 113433155 113433156 + Intron INS - GAG GAG rs10645190;rs67489400 2011-2320:2012-354-T g.chr13:113433155_113433156insGAG uc001vsi.3 + ATP11A_uc001vsj.3_Intron NM_015205 NP_056020 INF2 64423 broad.mit.edu 37 14 105187402 105187403 + Intron INS - C C 2011-2320:2012-354-T g.chr14:105187402_105187403insC uc010tyi.1 + NM_022489 NP_071934 LRRK1 79705 broad.mit.edu 37 15 101481314 101481315 + Intron DEL TG - - 2011-2320:2012-354-T g.chr15:101481314_101481315delTG uc002bwr.2 + LRRK1_uc010usb.1_Intron|LRRK1_uc010usc.1_Intron|LRRK1_uc002bwq.1_Intron NM_024652 NP_078928 LMF1 64788 broad.mit.edu 37 16 908332 908333 + Intron INS - C C 2011-2320:2012-354-T g.chr16:908332_908333insC uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 CHMP1A 5119 broad.mit.edu 37 16 89721890 89721891 + Intron INS - C C 2011-2320:2012-354-T g.chr16:89721890_89721891insC uc002fnu.2 - CHMP1A_uc002fnv.2_Intron|C16orf55_uc002fnw.1_5'Flank|C16orf55_uc002fnx.3_5'Flank|C16orf55_uc010vpk.1_5'Flank|C16orf55_uc002fny.1_5'Flank NM_002768 NP_002759 TIMM22 29928 broad.mit.edu 37 17 897545 897546 + 5'Flank INS - C C rs147504264;rs71933939 2011-2320:2012-354-T g.chr17:897545_897546insC uc002fsc.2 + NM_013337 NP_037469 C17orf76 388341 broad.mit.edu 37 17 16359658 16359660 + Intron DEL AGA - - 2011-2320:2012-354-T g.chr17:16359658_16359660delAGA uc010cph.1 - C17orf76_uc002gqh.2_Intron|NCRNA00188_uc010vwl.1_Intron|NCRNA00188_uc010vwm.1_Intron|NCRNA00188_uc010vwn.1_Intron|NCRNA00188_uc010cpe.2_Intron|NCRNA00188_uc010vwo.1_Intron|NCRNA00188_uc010vwp.1_Intron NM_001113567 NP_001107039 USP32 84669 broad.mit.edu 37 17 58289532 58289533 + Intron INS - A A 2011-2320:2012-354-T g.chr17:58289532_58289533insA uc002iyo.1 - USP32_uc002iyn.1_Intron NM_032582 NP_115971 TIMP2 7077 broad.mit.edu 37 17 76889514 76889515 + Intron INS - GT GT 2011-2320:2012-354-T g.chr17:76889514_76889515insGT uc010wty.1 - TIMP2_uc002jwf.2_Intron|uc002jwg.1_Intron NM_003255 NP_003246 AATK 9625 broad.mit.edu 37 17 79114810 79114817 + Intron DEL GCCCATGA - - rs138144727;rs143644799 by1000genomes;by1000genomes 2011-2320:2012-354-T g.chr17:79114810_79114817delGCCCATGA uc010dia.2 - NM_001080395 NP_001073864 BAHCC1 57597 broad.mit.edu 37 17 79389908 79389909 + Intron DEL GT - - 2011-2320:2012-354-T g.chr17:79389908_79389909delGT uc002kaf.2 + NM_001080519 NP_001073988 B3GNTL1 146712 broad.mit.edu 37 17 80916779 80916779 + Intron DEL G - - 2011-2320:2012-354-T g.chr17:80916779delG uc002kgg.1 - B3GNTL1_uc002kgf.1_Intron|B3GNTL1_uc002kge.1_Intron NM_001009905 NP_001009905 ZNF236 7776 broad.mit.edu 37 18 74679360 74679361 + Intron INS - GGT GGT 2011-2320:2012-354-T g.chr18:74679360_74679361insGGT uc002lmi.2 + ZNF236_uc002lmj.2_Intron NM_007345 NP_031371 ZNF236 7776 broad.mit.edu 37 18 74679557 74679558 + Intron INS - GGT GGT rs113352608 2011-2320:2012-354-T g.chr18:74679557_74679558insGGT uc002lmi.2 + ZNF236_uc002lmj.2_Intron NM_007345 NP_031371 ZNF547 284306 broad.mit.edu 37 19 58010975 58010975 + Intron DEL T - - rs62126214 2011-2320:2012-354-T g.chr19:58010975delT uc002qpm.3 + ZNF773_uc002qox.2_5'Flank|ZNF773_uc002qoy.2_5'Flank|ZNF773_uc002qoz.2_5'Flank ZNF547 284306 broad.mit.edu 37 19 58010978 58010979 + Intron DEL AT - - rs62126215;rs62126216 2011-2320:2012-354-T g.chr19:58010978_58010979delAT uc002qpm.3 + ZNF773_uc002qox.2_5'Flank|ZNF773_uc002qoy.2_5'Flank|ZNF773_uc002qoz.2_5'Flank ZNF547 284306 broad.mit.edu 37 19 58010985 58010987 + Intron DEL CCA - - rs146929792 by1000genomes 2011-2320:2012-354-T g.chr19:58010985_58010987delCCA uc002qpm.3 + ZNF773_uc002qox.2_5'Flank|ZNF773_uc002qoy.2_5'Flank|ZNF773_uc002qoz.2_5'Flank SNTG2 54221 broad.mit.edu 37 2 1285089 1285090 + Intron INS - G G 2011-2320:2012-354-T g.chr2:1285089_1285090insG uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 RMND5A 64795 broad.mit.edu 37 2 87623326 87623327 + Intron INS - A A 2011-2320:2012-354-T g.chr2:87623326_87623327insA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87626314 87626315 + Intron INS - GTTAG GTTAG 2011-2320:2012-354-T g.chr2:87626314_87626315insGTTAG uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87641749 87641750 + Intron INS - A A rs145264498 2011-2320:2012-354-T g.chr2:87641749_87641750insA uc002srs.3 + RMND5A 64795 broad.mit.edu 37 2 87642995 87642996 + Intron INS - A A 2011-2320:2012-354-T g.chr2:87642995_87642996insA uc002srs.3 + CLASP1 23332 broad.mit.edu 37 2 122368198 122368199 + Intron INS - GGA GGA rs148306674 by1000genomes 2011-2320:2012-354-T g.chr2:122368198_122368199insGGA uc002tnc.2 - CLASP1_uc010yyz.1_Intron|CLASP1_uc010yza.1_Intron|CLASP1_uc010yzb.1_Intron|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tng.1_Intron NM_015282 NP_056097 KIF1A 547 broad.mit.edu 37 2 241720894 241720895 + Intron INS - GCTC GCTC 2011-2320:2012-354-T g.chr2:241720894_241720895insGCTC uc002vzy.2 - KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron NM_004321 NP_004312 PRIC285 85441 broad.mit.edu 37 20 62191130 62191133 + Intron DEL AGTC - - 2011-2320:2012-354-T g.chr20:62191130_62191133delAGTC uc002yfm.2 - PRIC285_uc002yfl.1_Intron NM_001037335 NP_001032412 RIPK4 54101 broad.mit.edu 37 21 43176837 43176838 + Frame_Shift_Ins INS - CA CA 2011-2320:2012-354-T g.chr21:43176837_43176838insCA uc002yzn.1 - 2 369_370 c.321_322insTG c.(319-324)CTGCTGfs p.L107fs NM_020639 NP_065690 ADARB1 104 broad.mit.edu 37 21 46529242 46529243 + Intron DEL TA - - rs140518083 by1000genomes 2011-2320:2012-354-T g.chr21:46529242_46529243delTA uc002zgy.2 + ADARB1_uc002zgp.2_Intron|ADARB1_uc002zgr.2_Intron|ADARB1_uc002zgs.2_Intron|ADARB1_uc002zgw.2_Intron|ADARB1_uc002zgv.2_Intron|ADARB1_uc002zgt.2_Intron|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_Intron|ADARB1_uc002zgu.2_Intron NM_015833 NP_056648 COL18A1 80781 broad.mit.edu 37 21 46904109 46904110 + Intron INS - CA CA rs141493268;rs68118278 by1000genomes 2011-2320:2012-354-T g.chr21:46904109_46904110insCA uc011afs.1 + COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Intron NM_130444 NP_569711 COL18A1 80781 broad.mit.edu 37 21 46920645 46920646 + Intron INS - GT GT 2011-2320:2012-354-T g.chr21:46920645_46920646insGT uc011afs.1 + COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Intron|SLC19A1_uc010gpy.1_Intron NM_130444 NP_569711 PCBP3 54039 broad.mit.edu 37 21 47235409 47235410 + Intron INS - G G 2011-2320:2012-354-T g.chr21:47235409_47235410insG uc010gqb.2 + NM_020528 NP_065389 PCBP3 54039 broad.mit.edu 37 21 47235412 47235412 + Intron DEL A - - 2011-2320:2012-354-T g.chr21:47235412delA uc010gqb.2 + NM_020528 NP_065389 SCUBE1 80274 broad.mit.edu 37 22 43601963 43601964 + Intron DEL CA - - rs145676151 2011-2320:2012-354-T g.chr22:43601963_43601964delCA uc003bdt.1 - NM_173050 NP_766638 PARVB 29780 broad.mit.edu 37 22 44550916 44550917 + Intron DEL GT - - rs909852;rs2401649 2011-2320:2012-354-T g.chr22:44550916_44550917delGT uc003ben.2 + PARVB_uc003bem.2_Intron|PARVB_uc010gzn.2_Intron|PARVB_uc003beo.2_Intron NM_013327 NP_037459 SLC9A3 6550 broad.mit.edu 37 5 501036 501036 + Intron DEL C - - 2011-2320:2012-354-T g.chr5:501036delC uc003jbe.2 - SLC9A3_uc011clx.1_Intron NM_004174 NP_004165 CEP72 55722 broad.mit.edu 37 5 651259 651260 + Intron INS - TG TG rs72148198 2011-2320:2012-354-T g.chr5:651259_651260insTG uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1070500 1070501 + Intron INS - A A 2011-2320:2012-354-T g.chr5:1070500_1070501insA uc003jbu.2 - NM_006598 NP_006589 TERT 7015 broad.mit.edu 37 5 1273198 1273199 + Intron DEL CA - - rs72327925 2011-2320:2012-354-T g.chr5:1273198_1273199delCA uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 CAPN11 11131 broad.mit.edu 37 6 44149645 44149646 + Intron INS - CA CA 2011-2320:2012-354-T g.chr6:44149645_44149646insCA uc003owt.1 + CAPN11_uc011dvn.1_Intron NM_007058 NP_008989 SMOC2 64094 broad.mit.edu 37 6 168990399 168990400 + Intron INS - C C rs111728659 2011-2320:2012-354-T g.chr6:168990399_168990400insC uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 THBS2 7058 broad.mit.edu 37 6 169643206 169643206 + Intron DEL C - - 2011-2320:2012-354-T g.chr6:169643206delC uc003qwt.2 - NM_003247 NP_003238 ADAP1 11033 broad.mit.edu 37 7 945857 945858 + Intron INS - A A 2011-2320:2012-354-T g.chr7:945857_945858insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945930 945931 + Intron INS - A A 2011-2320:2012-354-T g.chr7:945930_945931insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 946039 946040 + Intron INS - A A 2011-2320:2012-354-T g.chr7:946039_946040insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 946163 946164 + Intron INS - A A rs61000036 2011-2320:2012-354-T g.chr7:946163_946164insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 AUTS2 26053 broad.mit.edu 37 7 69960741 69960741 + Intron DEL A - - 2011-2320:2012-354-T g.chr7:69960741delA uc003tvw.3 + AUTS2_uc003tvx.3_Intron NM_015570 NP_056385 PTPRN2 5799 broad.mit.edu 37 7 157450399 157450400 + Intron DEL AC - - 2011-2320:2012-354-T g.chr7:157450399_157450400delAC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 RALGDS 5900 broad.mit.edu 37 9 135999451 135999452 + 5'Flank DEL AC - - 2011-2320:2012-354-T g.chr9:135999451_135999452delAC uc004cco.2 - RALGDS_uc004ccp.2_5'Flank|RALGDS_uc004ccq.2_5'Flank|RALGDS_uc004ccr.2_Intron|RALGDS_uc011mcv.1_Intron|RALGDS_uc004ccs.2_Intron|RALGDS_uc011mcw.1_Intron NM_006266 NP_006257 CNST 163882 broad.mit.edu 37 1 246783773 246783774 + Intron INS - CT CT 2011-2321:2012-353-T g.chr1:246783773_246783774insCT uc001ibp.2 + CNST_uc001ibo.3_Intron NM_152609 NP_689822 ANXA8 653145 broad.mit.edu 37 10 47023095 47023095 + Intron DEL T - - 2011-2321:2012-353-T g.chr10:47023095delT uc001jed.3 - ADAM12 8038 broad.mit.edu 37 10 127940392 127940392 + Intron DEL G - - 2011-2321:2012-353-T g.chr10:127940392delG uc001ljk.2 - ADAM12_uc010qul.1_Intron|ADAM12_uc001ljm.2_Intron|ADAM12_uc001ljn.2_Intron|ADAM12_uc001ljl.3_Intron NM_003474 NP_003465 LRRC27 80313 broad.mit.edu 37 10 134172604 134172606 + Intron DEL AGT - - rs140240460 by1000genomes 2011-2321:2012-353-T g.chr10:134172604_134172606delAGT uc010quw.1 + LRRC27_uc001llg.2_Intron|LRRC27_uc001lli.2_Intron|LRRC27_uc001llj.2_Intron|LRRC27_uc001llk.3_Intron NM_030626 NP_085129 KNDC1 85442 broad.mit.edu 37 10 134997778 134997779 + Intron DEL CA - - rs149543308 2011-2321:2012-353-T g.chr10:134997778_134997779delCA uc001llz.1 + KNDC1_uc001lma.1_Intron NM_152643 NP_689856 IGSF9B 22997 broad.mit.edu 37 11 133802470 133802471 + Intron INS - AC AC 2011-2321:2012-353-T g.chr11:133802470_133802471insAC uc001qgx.3 - IGSF9B_uc001qgy.1_Intron NM_014987 NP_055802 NCOR2 9612 broad.mit.edu 37 12 124953416 124953421 + Intron DEL CTCATA - - rs36176856 2011-2321:2012-353-T g.chr12:124953416_124953421delCTCATA uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 COL4A1 1282 broad.mit.edu 37 13 110908133 110908133 + Intron DEL A - - 2011-2321:2012-353-T g.chr13:110908133delA uc001vqw.3 - COL4A1_uc010agl.2_Intron NM_001845 NP_001836 RIN3 79890 broad.mit.edu 37 14 93107024 93107025 + Intron DEL TG - - rs71968959 2011-2321:2012-353-T g.chr14:93107024_93107025delTG uc001yap.2 + RIN3_uc010auk.2_Intron|RIN3_uc001yaq.2_Intron NM_024832 NP_079108 LMF1 64788 broad.mit.edu 37 16 1000238 1000240 + Intron DEL AAT - - 2011-2321:2012-353-T g.chr16:1000238_1000240delAAT uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 1000437 1000439 + Intron DEL ACA - - 2011-2321:2012-353-T g.chr16:1000437_1000439delACA uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 ABR 29 broad.mit.edu 37 17 1021133 1021134 + Intron INS - C C 2011-2321:2012-353-T g.chr17:1021133_1021134insC uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 USP32 84669 broad.mit.edu 37 17 58289522 58289522 + Intron DEL T - - 2011-2321:2012-353-T g.chr17:58289522delT uc002iyo.1 - USP32_uc002iyn.1_Intron NM_032582 NP_115971 TBC1D16 125058 broad.mit.edu 37 17 77998110 77998111 + Intron DEL CG - - rs78320392 2011-2321:2012-353-T g.chr17:77998110_77998111delCG uc002jxj.2 - NM_019020 NP_061893 CD70 970 broad.mit.edu 37 19 6587224 6587225 + Intron INS - GAGA GAGA rs142923593 by1000genomes 2011-2321:2012-353-T g.chr19:6587224_6587225insGAGA uc002mfi.2 - CD70_uc010xjf.1_Intron NM_001252 NP_001243 BCL11A 53335 broad.mit.edu 37 2 60694375 60694376 + Intron INS - TGG TGG 2011-2321:2012-353-T g.chr2:60694375_60694376insTGG uc002sae.1 - BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Intron|BCL11A_uc002sad.1_Intron|BCL11A_uc002saf.1_Intron NM_022893 NP_075044 RMND5A 64795 broad.mit.edu 37 2 87719726 87719726 + Intron DEL C - - 2011-2321:2012-353-T g.chr2:87719726delC uc002srs.3 + XKR7 343702 broad.mit.edu 37 20 30573584 30573585 + Intron INS - ACAG ACAG rs139170949;rs72335429 by1000genomes 2011-2321:2012-353-T g.chr20:30573584_30573585insACAG uc002wxe.2 + NM_001011718 NP_001011718 PHF21B 112885 broad.mit.edu 37 22 45280000 45280008 + Intron DEL CATCATGAT - - rs13055901;rs60606161 2011-2321:2012-353-T g.chr22:45280000_45280008delCATCATGAT uc003bfn.2 - PHF21B_uc003bfm.2_Intron|PHF21B_uc011aqk.1_Intron|PHF21B_uc011aql.1_Intron NM_138415 NP_612424 PHF21B 112885 broad.mit.edu 37 22 45280013 45280015 + Intron DEL ATT - - rs143123029;rs13055909 2011-2321:2012-353-T g.chr22:45280013_45280015delATT uc003bfn.2 - PHF21B_uc003bfm.2_Intron|PHF21B_uc011aqk.1_Intron|PHF21B_uc011aql.1_Intron NM_138415 NP_612424 ARSA 410 broad.mit.edu 37 22 51067347 51067349 + 5'Flank DEL TGT - - rs34043300;rs34618802;rs6151403 2011-2321:2012-353-T g.chr22:51067347_51067349delTGT uc003bnb.3 - ARSA_uc003bna.3_5'Flank|ARSA_uc003bnc.3_5'Flank|ARSA_uc003bnd.3_5'Flank|ARSA_uc003bmz.3_5'Flank|ARSA_uc010hbf.2_5'Flank NM_001085426 NP_001078895 CNTN4 152330 broad.mit.edu 37 3 2232491 2232492 + Intron DEL CA - - 2011-2321:2012-353-T g.chr3:2232491_2232492delCA uc003bpc.2 + CNTN4_uc003bpb.1_Intron NM_175607 NP_783200 UNC5A 90249 broad.mit.edu 37 5 176299993 176299993 + Intron DEL G - - rs56370365 2011-2321:2012-353-T g.chr5:176299993delG uc003mey.2 + UNC5A_uc010jkg.1_Intron NM_133369 NP_588610 TCP10 6953 broad.mit.edu 37 6 167800592 167800593 + 5'Flank INS - GA GA 2011-2321:2012-353-T g.chr6:167800592_167800593insGA uc003qvv.1 - TCP10_uc003qvu.2_5'Flank|TCP10_uc003qvw.2_5'Flank NM_004610 NP_004601 SMOC2 64094 broad.mit.edu 37 6 169015708 169015709 + Intron INS - GG GG 2011-2321:2012-353-T g.chr6:169015708_169015709insGG uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 SMOC2 64094 broad.mit.edu 37 6 169016341 169016342 + Intron DEL GG - - 2011-2321:2012-353-T g.chr6:169016341_169016342delGG uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 TRAPPC9 83696 broad.mit.edu 37 8 141167225 141167225 + Intron DEL T - - rs66795566 2011-2321:2012-353-T g.chr8:141167225delT uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 HEATR7A 727957 broad.mit.edu 37 8 145288395 145288395 + Intron DEL C - - 2011-2321:2012-353-T g.chr8:145288395delC uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 CRLF2 64109 broad.mit.edu 37 X 1316365 1316368 + Intron DEL CCAG - - 2011-2321:2012-353-T g.chrX:1316365_1316368delCCAG uc004cpm.1 - PRDM16 63976 broad.mit.edu 37 1 3030782 3030783 + Intron DEL AA - - rs143413205 by1000genomes 2011-2322:2012-352-T g.chr1:3030782_3030783delAA uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 MLLT10 8028 broad.mit.edu 37 10 21903924 21903924 + Intron DEL A - - 2011-2322:2012-352-T g.chr10:21903924delA uc001iqs.2 + MLLT10_uc001iqt.2_Intron|MLLT10_uc001iqv.2_Intron|MLLT10_uc001iqy.2_Intron|MLLT10_uc001ira.2_5'Flank|MLLT10_uc001iqz.2_Intron NM_004641 NP_004632 ANXA8 653145 broad.mit.edu 37 10 47059494 47059495 + Intron INS - AAT AAT 2011-2322:2012-352-T g.chr10:47059494_47059495insAAT uc001jed.3 - ANXA8 653145 broad.mit.edu 37 10 47059504 47059505 + Intron DEL CC - - 2011-2322:2012-352-T g.chr10:47059504_47059505delCC uc001jed.3 - ANXA8 653145 broad.mit.edu 37 10 47059512 47059513 + Intron DEL AT - - 2011-2322:2012-352-T g.chr10:47059512_47059513delAT uc001jed.3 - ANXA8 653145 broad.mit.edu 37 10 47059519 47059520 + Intron DEL TC - - 2011-2322:2012-352-T g.chr10:47059519_47059520delTC uc001jed.3 - ANXA8 653145 broad.mit.edu 37 10 47059523 47059523 + Intron DEL C - - 2011-2322:2012-352-T g.chr10:47059523delC uc001jed.3 - TCERG1L 256536 broad.mit.edu 37 10 132893515 132893516 + Intron INS - C C 2011-2322:2012-352-T g.chr10:132893515_132893516insC uc001lkp.2 - NM_174937 NP_777597 MUC5B 727897 broad.mit.edu 37 11 1212782 1212783 + Intron INS - G G 2011-2322:2012-352-T g.chr11:1212782_1212783insG uc009ycr.1 + uc001lsz.2_5'Flank NM_017511 NP_059981 B4GALNT3 283358 broad.mit.edu 37 12 620636 620638 + Intron DEL CTT - - 2011-2322:2012-352-T g.chr12:620636_620638delCTT uc001qii.1 + NM_173593 NP_775864 MLL2 8085 broad.mit.edu 37 12 49431031 49431031 + Frame_Shift_Del DEL G - - 2011-2322:2012-352-T g.chr12:49431031delG uc001rta.3 - 34 10108 c.10108delC c.(10108-10110)CAGfs p.Q3370fs NM_003482 NP_003473 ANKLE2 23141 broad.mit.edu 37 12 133323904 133323905 + Intron DEL CT - - 2011-2322:2012-352-T g.chr12:133323904_133323905delCT uc001ukx.2 - ANKLE2_uc001uky.3_Intron NM_015114 NP_055929 DCLK1 9201 broad.mit.edu 37 13 36532432 36532443 + Intron DEL CACTATAATAAA - - 2011-2322:2012-352-T g.chr13:36532432_36532443delCACTATAATAAA uc001uvf.2 - NM_004734 NP_004725 SYNE2 23224 broad.mit.edu 37 14 64490259 64490259 + Intron DEL T - - 2011-2322:2012-352-T g.chr14:64490259delT uc001xgm.2 + SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 DICER1 23405 broad.mit.edu 37 14 95557509 95557509 + Intron DEL T - - 2011-2322:2012-352-T g.chr14:95557509delT uc001ydw.2 - DICER1_uc010avh.1_Intron|DICER1_uc001ydv.2_Intron|DICER1_uc001ydx.2_Intron NM_030621 NP_085124 DICER1 23405 broad.mit.edu 37 14 95581843 95581844 + Intron INS - A A 2011-2322:2012-352-T g.chr14:95581843_95581844insA uc001ydw.2 - DICER1_uc001ydv.2_Intron|DICER1_uc001ydx.2_Intron NM_030621 NP_085124 TRAF3 7187 broad.mit.edu 37 14 103363626 103363626 + Frame_Shift_Del DEL A - - 2011-2322:2012-352-T g.chr14:103363626delA uc001ymc.1 + 10 1201 c.848delA c.(847-849)GAAfs p.E283fs TRAF3_uc001yme.1_Frame_Shift_Del_p.E258fs|TRAF3_uc001ymd.1_Frame_Shift_Del_p.E283fs|TRAF3_uc010txy.1_Frame_Shift_Del_p.E200fs NM_145725 NP_663777 RPH3AL 9501 broad.mit.edu 37 17 65977 65977 + Intron DEL G - - 2011-2322:2012-352-T g.chr17:65977delG uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 FBLN7 129804 broad.mit.edu 37 2 112918243 112918244 + Intron INS - GACG GACG rs62158704 by1000genomes 2011-2322:2012-352-T g.chr2:112918243_112918244insGACG uc002tho.1 + FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Intron|FBLN7_uc010fkj.1_Intron NM_153214 NP_694946 LRP1B 53353 broad.mit.edu 37 2 141609527 141609528 + Intron INS - A A rs145316236 by1000genomes 2011-2322:2012-352-T g.chr2:141609527_141609528insA uc002tvj.1 - LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 CUL3 8452 broad.mit.edu 37 2 225422274 225422274 + Intron DEL C - - 2011-2322:2012-352-T g.chr2:225422274delC uc002vny.2 - CUL3_uc010zls.1_Intron|CUL3_uc010fwy.1_Intron NM_003590 NP_003581 EP300 2033 broad.mit.edu 37 22 41489174 41489174 + Intron DEL T - - 2011-2322:2012-352-T g.chr22:41489174delT uc003azl.3 + NM_001429 NP_001420 SH3BP5 9467 broad.mit.edu 37 3 15314138 15314139 + Intron DEL AT - - rs66812059;rs56834490 2011-2322:2012-352-T g.chr3:15314138_15314139delAT uc003bzp.1 - SH3BP5_uc010hem.1_Intron|SH3BP5_uc003bzq.1_Intron|SH3BP5_uc003bzr.1_Intron NM_004844 NP_004835 HHATL 57467 broad.mit.edu 37 3 42741656 42741657 + Intron INS - TG TG rs138895327;rs10576105 by1000genomes 2011-2322:2012-352-T g.chr3:42741656_42741657insTG uc003clw.2 - HHATL_uc003clx.2_Intron NM_020707 NP_065758 PIK3CB 5291 broad.mit.edu 37 3 138474573 138474573 + Intron DEL T - - 2011-2322:2012-352-T g.chr3:138474573delT uc011bmq.1 - NM_006219 NP_006210 CPN2 1370 broad.mit.edu 37 3 194073590 194073591 + 5'Flank DEL TA - - rs71637131 2011-2322:2012-352-T g.chr3:194073590_194073591delTA uc003fts.2 - NM_001080513 NP_001073982 FAT1 2195 broad.mit.edu 37 4 187560861 187560861 + Intron DEL A - - 2011-2322:2012-352-T g.chr4:187560861delA uc003izf.2 - NM_005245 NP_005236 PIK3R1 5295 broad.mit.edu 37 5 67588001 67588001 + Intron DEL T - - 2011-2322:2012-352-T g.chr5:67588001delT uc003jva.2 + PIK3R1_uc003jvb.2_Intron|PIK3R1_uc003jvc.2_Intron|PIK3R1_uc003jvd.2_Intron|PIK3R1_uc003jve.2_5'UTR|PIK3R1_uc011crb.1_5'Flank NM_181523 NP_852664 ROS1 6098 broad.mit.edu 37 6 117687244 117687245 + Frame_Shift_Ins INS - G G 2011-2322:2012-352-T g.chr6:117687244_117687245insG uc003pxp.1 - 18 3005_3006 c.2806_2807insC c.(2806-2808)CTGfs p.L936fs ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 AOAH 313 broad.mit.edu 37 7 36555646 36555647 + Intron DEL CA - - 2011-2322:2012-352-T g.chr7:36555646_36555647delCA uc003tfh.3 - AOAH_uc010kxf.2_Intron|AOAH_uc011kba.1_Intron NM_001637 NP_001628 EGFR 1956 broad.mit.edu 37 7 55235051 55235059 + Intron DEL TGGTGTTGA - - rs111361325;rs138291012 by1000genomes 2011-2322:2012-352-T g.chr7:55235051_55235059delTGGTGTTGA uc003tqk.2 + EGFR_uc003tqi.2_Intron|EGFR_uc003tqj.2_Intron|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Intron|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron NM_005228 NP_005219 BRAF 673 broad.mit.edu 37 7 140508254 140508254 + Intron DEL T - - 2011-2322:2012-352-T g.chr7:140508254delT uc003vwc.3 - NM_004333 NP_004324 MLL3 58508 broad.mit.edu 37 7 152055766 152055767 + Intron INS - A A 2011-2322:2012-352-T g.chr7:152055766_152055767insA uc003wla.2 - NM_170606 NP_733751 NCAPG2 54892 broad.mit.edu 37 7 158441189 158441189 + Intron DEL A - - 2011-2322:2012-352-T g.chr7:158441189delA uc003wnv.1 - NCAPG2_uc010lqu.1_Intron|NCAPG2_uc003wnw.1_Intron|NCAPG2_uc003wnx.1_Intron|NCAPG2_uc011kwe.1_Intron|NCAPG2_uc011kwc.1_Intron|NCAPG2_uc011kwd.1_Intron NM_017760 NP_060230 UBR5 51366 broad.mit.edu 37 8 103289348 103289349 + Frame_Shift_Ins INS - T T 2011-2322:2012-352-T g.chr8:103289348_103289349insT uc003ykr.1 - 45 6393_6394 c.6360_6361insA c.(6358-6363)AAAGAAfs p.K2120fs UBR5_uc003yks.1_Frame_Shift_Ins_p.K2120fs NM_015902 NP_056986 CSMD3 114788 broad.mit.edu 37 8 113301796 113301796 + Intron DEL T - - 2011-2322:2012-352-T g.chr8:113301796delT uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 TOP1MT 116447 broad.mit.edu 37 8 144404122 144404123 + Intron INS - AT AT 2011-2322:2012-352-T g.chr8:144404122_144404123insAT uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 TOP1MT 116447 broad.mit.edu 37 8 144404863 144404864 + Intron INS - CA CA 2011-2322:2012-352-T g.chr8:144404863_144404864insCA uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 HEATR7A 727957 broad.mit.edu 37 8 145288285 145288286 + Intron INS - C C 2011-2322:2012-352-T g.chr8:145288285_145288286insC uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 ARHGAP39 80728 broad.mit.edu 37 8 145913001 145913002 + 5'Flank INS - C C 2011-2322:2012-352-T g.chr8:145913001_145913002insC uc011llk.1 - NM_025251 NP_079527 MAN1B1 11253 broad.mit.edu 37 9 139997213 139997214 + Intron INS - TG TG rs66976915;rs66760625 2011-2322:2012-352-T g.chr9:139997213_139997214insTG uc004cld.2 + MAN1B1_uc011meo.1_Intron|MAN1B1_uc011mep.1_Intron|MAN1B1_uc010ncc.2_Intron|MAN1B1_uc004clf.1_5'Flank|MAN1B1_uc004clg.1_5'Flank NM_016219 NP_057303 EXD3 54932 broad.mit.edu 37 9 140223123 140223124 + Intron INS - G G 2011-2322:2012-352-T g.chr9:140223123_140223124insG uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron NM_017820 NP_060290 PNPLA7 375775 broad.mit.edu 37 9 140412600 140412603 + Intron DEL CCCA - - 2011-2322:2012-352-T g.chr9:140412600_140412603delCCCA uc004cnf.2 - PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Intron NM_152286 NP_689499 PPP2R3B 28227 broad.mit.edu 37 X 314720 314721 + Intron INS - G G 2011-2322:2012-352-T g.chrX:314720_314721insG uc004cpg.2 - PPP2R3B_uc011mha.1_Intron NM_013239 NP_037371 SHOX 6473 broad.mit.edu 37 X 583912 583912 + 5'Flank DEL A - - 2011-2322:2012-352-T g.chrX:583912delA uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 HEPH 9843 broad.mit.edu 37 X 65483468 65483468 + Intron DEL T - - 2011-2322:2012-352-T g.chrX:65483468delT uc011moz.1 + HEPH_uc004dwn.2_Intron|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Intron NM_138737 NP_620074 COL17A1 1308 broad.mit.edu 37 10 105795669 105795670 + Intron INS - GT GT rs143118475 2011-2323:2012-311-T g.chr10:105795669_105795670insGT uc001kxr.2 - NM_000494 NP_000485 UBE4A 9354 broad.mit.edu 37 11 118243701 118243701 + Intron DEL A - - rs34104337 2011-2323:2012-311-T g.chr11:118243701delA uc001psw.2 + UBE4A_uc001psv.2_Intron NM_004788 NP_004779 COG3 83548 broad.mit.edu 37 13 46060468 46060468 + Intron DEL G - - 2011-2323:2012-311-T g.chr13:46060468delG uc001vak.2 + COG3_uc010tfu.1_Intron|COG3_uc001vai.2_Intron|COG3_uc001vaj.1_Intron|COG3_uc010tfv.1_Intron|COG3_uc010aci.2_Intron NM_031431 NP_113619 ZFYVE26 23503 broad.mit.edu 37 14 68286245 68286245 + 5'Flank DEL A - - rs76157167 2011-2323:2012-311-T g.chr14:68286245delA uc001xka.2 - RAD51L1_uc010aqq.2_5'Flank|RAD51L1_uc001xkd.2_5'Flank|RAD51L1_uc010aqr.2_5'Flank|RAD51L1_uc001xke.2_5'Flank|RAD51L1_uc001xkf.1_5'Flank|RAD51L1_uc010aqs.1_5'Flank|RAD51L1_uc001xkg.1_5'Flank|ZFYVE26_uc010tsz.1_5'Flank|ZFYVE26_uc001xkc.3_5'Flank|ZFYVE26_uc010tta.1_5'Flank NM_015346 NP_056161 CCDC135 84229 broad.mit.edu 37 16 57739652 57739653 + Intron INS - T T 2011-2323:2012-311-T g.chr16:57739652_57739653insT uc002emi.2 + CCDC135_uc002emj.2_Intron|CCDC135_uc002emk.2_Intron NM_032269 NP_115645 CCDC135 84229 broad.mit.edu 37 16 57739653 57739654 + Intron INS - CAT CAT 2011-2323:2012-311-T g.chr16:57739653_57739654insCAT uc002emi.2 + CCDC135_uc002emj.2_Intron|CCDC135_uc002emk.2_Intron NM_032269 NP_115645 IL34 146433 broad.mit.edu 37 16 70678855 70678856 + 5'Flank DEL AG - - 2011-2323:2012-311-T g.chr16:70678855_70678856delAG uc002ezh.1 + IL34_uc002ezi.1_5'Flank NM_152456 NP_689669 NF1 4763 broad.mit.edu 37 17 29528326 29528326 + Intron DEL T - - 2011-2323:2012-311-T g.chr17:29528326delT uc002hgg.2 + NF1_uc002hge.1_Intron|NF1_uc002hgf.1_Intron|NF1_uc002hgh.2_Intron|NF1_uc010csn.1_Intron NM_001042492 NP_001035957 TYMS 7298 broad.mit.edu 37 18 667557 667558 + Intron INS - A A 2011-2323:2012-311-T g.chr18:667557_667558insA uc010dka.1 + TYMS_uc010dkb.1_Intron|TYMS_uc010dkc.1_Intron NM_001071 NP_001062 KCTD1 284252 broad.mit.edu 37 18 24173355 24173357 + Intron DEL GAG - - 2011-2323:2012-311-T g.chr18:24173355_24173357delGAG uc010xbk.1 - NM_198991 NP_945342 KCTD1 284252 broad.mit.edu 37 18 24173370 24173372 + Intron DEL GAG - - 2011-2323:2012-311-T g.chr18:24173370_24173372delGAG uc010xbk.1 - NM_198991 NP_945342 MIER2 54531 broad.mit.edu 37 19 309930 309930 + Intron DEL A - - 2011-2323:2012-311-T g.chr19:309930delA uc002lok.1 - NM_017550 NP_060020 ZNF578 147660 broad.mit.edu 37 19 52976924 52976925 + Intron DEL TC - - rs114200539 by1000genomes 2011-2323:2012-311-T g.chr19:52976924_52976925delTC uc002pzp.3 + NM_001099694 NP_001093164 C20orf26 26074 broad.mit.edu 37 20 20336630 20336631 + Intron INS - GTG GTG rs137937135;rs71918872 by1000genomes 2011-2323:2012-311-T g.chr20:20336630_20336631insGTG uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 CDH4 1002 broad.mit.edu 37 20 59951104 59951105 + Intron INS - TGG TGG 2011-2323:2012-311-T g.chr20:59951104_59951105insTGG uc002ybn.1 + NM_001794 NP_001785 COL6A1 1291 broad.mit.edu 37 21 47408313 47408314 + Intron INS - A A 2011-2323:2012-311-T g.chr21:47408313_47408314insA uc002zhu.1 + NM_001848 NP_001839 PLEKHG4B 153478 broad.mit.edu 37 5 165592 165593 + Intron INS - T T 2011-2323:2012-311-T g.chr5:165592_165593insT uc003jak.2 + NM_052909 NP_443141 AHRR 57491 broad.mit.edu 37 5 344887 344890 + Intron DEL TGAC - - 2011-2323:2012-311-T g.chr5:344887_344890delTGAC uc003jav.2 + AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Intron NM_020731 NP_065782 MAD1L1 8379 broad.mit.edu 37 7 2097658 2097662 + Intron DEL AGAGG - - rs72424682;rs71928108 2011-2323:2012-311-T g.chr7:2097658_2097662delAGAGG uc003slh.1 - MAD1L1_uc003sle.1_Intron|MAD1L1_uc003slf.1_Intron|MAD1L1_uc003slg.1_Intron|MAD1L1_uc010ksh.1_Intron|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Intron|MAD1L1_uc010ksj.2_Intron NM_001013836 NP_001013858 CALN1 83698 broad.mit.edu 37 7 71674295 71674296 + Intron INS - TCTT TCTT rs143091829 by1000genomes 2011-2323:2012-311-T g.chr7:71674295_71674296insTCTT uc003twa.3 - CALN1_uc003twb.3_Intron|CALN1_uc003twc.3_Intron NM_001017440 NP_001017440 VIPR2 7434 broad.mit.edu 37 7 158834246 158834247 + Intron INS - T T rs139961577;rs67819019 by1000genomes 2011-2323:2012-311-T g.chr7:158834246_158834247insT uc003woh.2 - VIPR2_uc010lqx.2_Intron|VIPR2_uc010lqy.2_Intron NM_003382 NP_003373 AGRN 375790 broad.mit.edu 37 1 965799 965800 + Intron DEL GT - - 2011-2324:2012-339-T g.chr1:965799_965800delGT uc001ack.1 + NM_198576 NP_940978 BIRC3 330 broad.mit.edu 37 11 102187577 102187578 + 5'Flank INS - A A 2011-2324:2012-339-T g.chr11:102187577_102187578insA uc001pgx.2 + NM_182962 NP_892007 ST8SIA1 6489 broad.mit.edu 37 12 22473948 22473949 + Intron INS - A A 2011-2324:2012-339-T g.chr12:22473948_22473949insA uc001rfo.3 - ST8SIA1_uc009zix.2_Intron NM_003034 NP_003025 ATP11A 23250 broad.mit.edu 37 13 113482482 113482483 + Intron INS - A A rs142146760 2011-2324:2012-339-T g.chr13:113482482_113482483insA uc001vsi.3 + ATP11A_uc001vsj.3_Intron|ATP11A_uc001vsm.1_Intron NM_015205 NP_056020 GRK1 6011 broad.mit.edu 37 13 114436867 114436872 + Intron DEL TGTGTA - - 2011-2324:2012-339-T g.chr13:114436867_114436872delTGTGTA uc010tkf.1 + NM_002929 NP_002920 RASA3 22821 broad.mit.edu 37 13 114771293 114771294 + Intron INS - CG CG 2011-2324:2012-339-T g.chr13:114771293_114771294insCG uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron NM_007368 NP_031394 TRIP11 9321 broad.mit.edu 37 14 92478356 92478357 + Intron DEL TA - - rs71970501;rs58527736 2011-2324:2012-339-T g.chr14:92478356_92478357delTA uc001xzy.2 - TRIP11_uc010auf.1_Intron NM_004239 NP_004230 C16orf45 89927 broad.mit.edu 37 16 15611713 15611714 + Intron INS - GTGG GTGG 2011-2324:2012-339-T g.chr16:15611713_15611714insGTGG uc002ddo.2 + C16orf45_uc002ddp.2_Intron NM_033201 NP_149978 DPEP1 1800 broad.mit.edu 37 16 89701347 89701347 + Intron DEL T - - 2011-2324:2012-339-T g.chr16:89701347delT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 RPH3AL 9501 broad.mit.edu 37 17 138495 138496 + Intron DEL CT - - 2011-2324:2012-339-T g.chr17:138495_138496delCT uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 BAHCC1 57597 broad.mit.edu 37 17 79399291 79399291 + Intron DEL T - - 2011-2324:2012-339-T g.chr17:79399291delT uc002kaf.2 + NM_001080519 NP_001073988 SIPA1L3 23094 broad.mit.edu 37 19 38660620 38660621 + Intron INS - G G 2011-2324:2012-339-T g.chr19:38660620_38660621insG uc002ohk.2 + NM_015073 NP_055888 ALDH16A1 126133 broad.mit.edu 37 19 49964548 49964548 + Intron DEL A - - 2011-2324:2012-339-T g.chr19:49964548delA uc002pnt.2 + ALDH16A1_uc010yar.1_Intron|ALDH16A1_uc010yas.1_Intron|ALDH16A1_uc010yat.1_Intron NM_153329 NP_699160 RAB3GAP1 22930 broad.mit.edu 37 2 135875102 135875104 + Intron DEL CTT - - 2011-2324:2012-339-T g.chr2:135875102_135875104delCTT uc002tuj.2 + RAB3GAP1_uc010fnf.2_Intron|RAB3GAP1_uc010fng.2_Intron|RAB3GAP1_uc010fnh.1_Intron NM_012233 NP_036365 DONSON 29980 broad.mit.edu 37 21 35267946 35267947 + Intron INS - GT GT rs146422087;rs138677745 by1000genomes 2011-2324:2012-339-T g.chr21:35267946_35267947insGT uc002ysn.1 - PDE9A 5152 broad.mit.edu 37 21 44189613 44189614 + Intron INS - CA CA rs13050980 2011-2324:2012-339-T g.chr21:44189613_44189614insCA uc002zbm.2 + PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Intron|PDE9A_uc002zbp.2_Intron|PDE9A_uc002zbq.2_Intron|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Intron|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Intron|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Intron|PDE9A_uc002zca.2_Intron|PDE9A_uc002zcb.2_Intron|PDE9A_uc002zcc.2_Intron|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Intron|PDE9A_uc002zcf.2_Intron|PDE9A_uc002zcg.2_Intron|PDE9A_uc002zch.2_Intron NM_002606 NP_002597 TOM1 10043 broad.mit.edu 37 22 35739336 35739337 + Intron INS - CA CA rs144221305 2011-2324:2012-339-T g.chr22:35739336_35739337insCA uc003ann.2 + TOM1_uc011ami.1_Intron|TOM1_uc011amj.1_Intron|TOM1_uc003ans.2_Intron|TOM1_uc011amk.1_Intron|TOM1_uc003anp.2_Intron|TOM1_uc011aml.1_Intron|TOM1_uc003ano.2_Intron|TOM1_uc003anq.2_Intron|TOM1_uc003anr.2_Intron NM_005488 NP_005479 SLC2A2 6514 broad.mit.edu 37 3 170746832 170746833 + 5'Flank INS - T T 2011-2324:2012-339-T g.chr3:170746832_170746833insT uc003fhe.1 - SLC2A2_uc003fhf.1_5'Flank|SLC2A2_uc011bpu.1_5'Flank NM_000340 NP_000331 SLC12A7 10723 broad.mit.edu 37 5 1072483 1072483 + Intron DEL C - - 2011-2324:2012-339-T g.chr5:1072483delC uc003jbu.2 - NM_006598 NP_006589 STK32A 202374 broad.mit.edu 37 5 146639651 146639654 + Intron DEL TCTG - - rs139741759 2011-2324:2012-339-T g.chr5:146639651_146639654delTCTG uc010jgn.1 + STK32A_uc003lol.3_Intron|STK32A_uc003lom.2_Intron|STK32A_uc011dbw.1_Intron NM_001112724 NP_001106195 CDHR2 54825 broad.mit.edu 37 5 176019140 176019145 + Intron DEL TGATGG - - 2011-2324:2012-339-T g.chr5:176019140_176019145delTGATGG uc003mem.1 + CDHR2_uc003men.1_Intron NM_017675 NP_060145 GCNT2 2651 broad.mit.edu 37 6 10589555 10589556 + Intron INS - GT GT 2011-2324:2012-339-T g.chr6:10589555_10589556insGT uc010joo.2 + GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Intron|GCNT2_uc003mzd.2_Intron|GCNT2_uc003mze.2_Intron NM_145649 NP_663624 SYNE1 23345 broad.mit.edu 37 6 152680764 152680765 + Intron INS - GTGTGT GTGTGT rs145785055 by1000genomes 2011-2324:2012-339-T g.chr6:152680764_152680765insGTGTGT uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kja.1_Intron NM_182961 NP_892006 ADAP1 11033 broad.mit.edu 37 7 945373 945374 + Intron INS - A A 2011-2324:2012-339-T g.chr7:945373_945374insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945841 945842 + Intron INS - G G 2011-2324:2012-339-T g.chr7:945841_945842insG uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945930 945931 + Intron INS - A A 2011-2324:2012-339-T g.chr7:945930_945931insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ETV1 2115 broad.mit.edu 37 7 14029148 14029150 + Intron DEL ATT - - 2011-2324:2012-339-T g.chr7:14029148_14029150delATT uc011jxq.1 - ETV1_uc003ssw.3_Intron|ETV1_uc003ssx.2_Intron|ETV1_uc011jxr.1_Intron|ETV1_uc011jxs.1_Intron NM_004956 NP_004947 PTPRN2 5799 broad.mit.edu 37 7 157569221 157569222 + Intron INS - C C 2011-2324:2012-339-T g.chr7:157569221_157569222insC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ERICH1 157697 broad.mit.edu 37 8 626446 626446 + Intron DEL G - - 2011-2324:2012-339-T g.chr8:626446delG uc003wph.2 - ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron|ERICH1_uc003wpi.2_5'Flank NM_207332 NP_997215 ARHGAP39 80728 broad.mit.edu 37 8 145913037 145913037 + 5'Flank DEL C - - 2011-2324:2012-339-T g.chr8:145913037delC uc011llk.1 - NM_025251 NP_079527 GOLM1 51280 broad.mit.edu 37 9 88668252 88668256 + Intron DEL CCACG - - rs139413631;rs117546243 by1000genomes;byFrequency;by1000genomes 2011-2324:2012-339-T g.chr9:88668252_88668256delCCACG uc004aol.2 - GOLM1_uc010mqd.1_Intron|GOLM1_uc004aom.2_Intron NM_016548 NP_057632 ROR2 4920 broad.mit.edu 37 9 94457775 94457776 + Intron DEL GT - - 2011-2324:2012-339-T g.chr9:94457775_94457776delGT uc004ari.1 - NM_004560 NP_004551 FAM125B 89853 broad.mit.edu 37 9 129247879 129247880 + Intron INS - C C 2011-2324:2012-339-T g.chr9:129247879_129247880insC uc004bqh.1 + FAM125B_uc011lzy.1_Intron|FAM125B_uc010mxd.2_Intron NM_033446 NP_258257 TTF1 7270 broad.mit.edu 37 9 135252915 135252916 + Intron INS - GGTG GGTG 2011-2324:2012-339-T g.chr9:135252915_135252916insGGTG uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 PNPLA7 375775 broad.mit.edu 37 9 140398465 140398467 + Intron DEL GAA - - 2011-2324:2012-339-T g.chr9:140398465_140398467delGAA uc004cnf.2 - C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Intron NM_152286 NP_689499 DDX3Y 8653 broad.mit.edu 37 Y 15028567 15028567 + Intron DEL T - - 2011-2324:2012-339-T g.chrY:15028567delT uc004fsu.1 + DDX3Y_uc004fsv.2_Intron|DDX3Y_uc010nww.1_Intron|DDX3Y_uc011nar.1_Intron NM_001122665 NP_001116137 GLIS1 148979 broad.mit.edu 37 1 54098761 54098764 + Intron DEL TGAG - - rs34421203 2011-2325:2012-337-T g.chr1:54098761_54098764delTGAG uc001cvr.1 - NM_147193 NP_671726 NOTCH2 4853 broad.mit.edu 37 1 120508171 120508171 + Frame_Shift_Del DEL C - - 2011-2325:2012-337-T g.chr1:120508171delC uc001eik.2 - 10 1842 c.1586delG c.(1585-1587)TGCfs p.C529fs NOTCH2_uc001eil.2_Frame_Shift_Del_p.C529fs|NOTCH2_uc001eim.3_Frame_Shift_Del_p.C446fs NM_024408 NP_077719 KCNN3 3782 broad.mit.edu 37 1 154686801 154686801 + Intron DEL T - - 2011-2325:2012-337-T g.chr1:154686801delT uc001ffp.2 - KCNN3_uc001ffo.2_Intron NM_002249 NP_002240 KCNN3 3782 broad.mit.edu 37 1 154686812 154686813 + Intron INS - GTG GTG 2011-2325:2012-337-T g.chr1:154686812_154686813insGTG uc001ffp.2 - KCNN3_uc001ffo.2_Intron NM_002249 NP_002240 LGR6 59352 broad.mit.edu 37 1 202174046 202174047 + Intron INS - C C 2011-2325:2012-337-T g.chr1:202174046_202174047insC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 HHAT 55733 broad.mit.edu 37 1 210639451 210639452 + Intron INS - GAAT GAAT rs71684699 2011-2325:2012-337-T g.chr1:210639451_210639452insGAAT uc009xcx.2 + HHAT_uc010psq.1_Intron|HHAT_uc001hhz.3_Intron|HHAT_uc010psr.1_Intron|HHAT_uc010pss.1_Intron|HHAT_uc009xcy.2_Intron|HHAT_uc010pst.1_Intron|HHAT_uc010psu.1_Intron|HHAT_uc001hia.3_Intron NM_001122834 NP_001116306 TRIM67 440730 broad.mit.edu 37 1 231337769 231337771 + Intron DEL GCA - - 2011-2325:2012-337-T g.chr1:231337769_231337771delGCA uc009xfn.1 + NM_001004342 NP_001004342 GRK5 2869 broad.mit.edu 37 10 121051474 121051475 + Intron INS - TTT TTT 2011-2325:2012-337-T g.chr10:121051474_121051475insTTT uc001led.2 + GRK5_uc009xzh.2_Intron|GRK5_uc010qta.1_Intron NM_005308 NP_005299 GPR123 84435 broad.mit.edu 37 10 134883035 134883036 + 5'Flank DEL GC - - rs71828211 2011-2325:2012-337-T g.chr10:134883035_134883036delGC uc001llw.2 + GPR123 84435 broad.mit.edu 37 10 134883050 134883051 + 5'Flank INS - T T 2011-2325:2012-337-T g.chr10:134883050_134883051insT uc001llw.2 + GPR123 84435 broad.mit.edu 37 10 134883058 134883059 + 5'Flank INS - T T 2011-2325:2012-337-T g.chr10:134883058_134883059insT uc001llw.2 + KIRREL3 84623 broad.mit.edu 37 11 126793072 126793073 + Intron INS - T T rs111403519 2011-2325:2012-337-T g.chr11:126793072_126793073insT uc001qea.2 - KIRREL3_uc001qeb.2_Intron|KIRREL3_uc001qec.1_Intron|KIRREL3_uc001qed.3_Intron NM_032531 NP_115920 IL17D 53342 broad.mit.edu 37 13 21292828 21292829 + Intron INS - ACAC ACAC rs138583770 2011-2325:2012-337-T g.chr13:21292828_21292829insACAC uc001unm.2 + NM_138284 NP_612141 IL17D 53342 broad.mit.edu 37 13 21292878 21292881 + Intron DEL CACA - - 2011-2325:2012-337-T g.chr13:21292878_21292881delCACA uc001unm.2 + NM_138284 NP_612141 PPP4R4 57718 broad.mit.edu 37 14 94684803 94684804 + Intron DEL CG - - 2011-2325:2012-337-T g.chr14:94684803_94684804delCG uc001ycs.1 + PPP4R4_uc001ycr.2_Intron NM_058237 NP_478144 INF2 64423 broad.mit.edu 37 14 105326724 105326734 + Intron DEL TCCACCCTCCA - - 2011-2325:2012-337-T g.chr14:105326724_105326734delTCCACCCTCCA uc010tyi.1 + NM_022489 NP_071934 DPEP1 1800 broad.mit.edu 37 16 89701220 89701221 + Intron INS - T T 2011-2325:2012-337-T g.chr16:89701220_89701221insT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 PPP1R12C 54776 broad.mit.edu 37 19 55608339 55608340 + Intron DEL CG - - rs66713018 2011-2325:2012-337-T g.chr19:55608339_55608340delCG uc002qix.2 - PPP1R12C_uc010yfs.1_Intron|PPP1R12C_uc002qiy.2_Intron NM_017607 NP_060077 PXDN 7837 broad.mit.edu 37 2 1724474 1724475 + Intron DEL TC - - 2011-2325:2012-337-T g.chr2:1724474_1724475delTC uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 EFCAB6 64800 broad.mit.edu 37 22 44079631 44079642 + In_Frame_Del DEL TTGATTATCAGT - - 2011-2325:2012-337-T g.chr22:44079631_44079642delTTGATTATCAGT uc003bdy.1 - 12 1451_1462 c.1236_1247delACTGATAATCAA c.(1234-1248)TTACTGATAATCAAC>TTC p.412_416LLIIN>F EFCAB6_uc003bdz.1_In_Frame_Del_p.260_264LLIIN>F|EFCAB6_uc010gzi.1_In_Frame_Del_p.260_264LLIIN>F|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_In_Frame_Del_p.409_413LLIIN>F NM_022785 NP_073622 PARVB 29780 broad.mit.edu 37 22 44550543 44550549 + Intron DEL TGTGTGG - - 2011-2325:2012-337-T g.chr22:44550543_44550549delTGTGTGG uc003ben.2 + PARVB_uc003bem.2_Intron|PARVB_uc010gzn.2_Intron|PARVB_uc003beo.2_Intron NM_013327 NP_037459 TTLL8 164714 broad.mit.edu 37 22 50467012 50467013 + Intron INS - A A 2011-2325:2012-337-T g.chr22:50467012_50467013insA uc011ark.1 - NM_001080447 NP_001073916 FANCD2 2177 broad.mit.edu 37 3 10083589 10083590 + Intron INS - T T 2011-2325:2012-337-T g.chr3:10083589_10083590insT uc003buw.2 + FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron NM_033084 NP_149075 GAK 2580 broad.mit.edu 37 4 907700 907701 + Intron DEL CA - - 2011-2325:2012-337-T g.chr4:907700_907701delCA uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_Intron|GAK_uc003gbl.3_5'Flank NM_005255 NP_005246 SORCS2 57537 broad.mit.edu 37 4 7527668 7527669 + Intron DEL CC - - 2011-2325:2012-337-T g.chr4:7527668_7527669delCC uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 PSMB1 5689 broad.mit.edu 37 6 170805329 170805331 + Intron DEL GAG - - 2011-2325:2012-337-T g.chr6:170805329_170805331delGAG uc003qxq.2 - NM_002793 ADAP1 11033 broad.mit.edu 37 7 945081 945081 + Intron DEL A - - 2011-2325:2012-337-T g.chr7:945081delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 CYP2W1 54905 broad.mit.edu 37 7 1027673 1027674 + Intron DEL TG - - 2011-2325:2012-337-T g.chr7:1027673_1027674delTG uc003sjq.1 + CYP2W1_uc003sjr.1_Intron NM_017781 NP_060251 CUX1 1523 broad.mit.edu 37 7 101860085 101860086 + Intron INS - TCT TCT rs380576 2011-2325:2012-337-T g.chr7:101860085_101860086insTCT uc003uyx.3 + CUX1_uc003uys.3_Intron|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 CUX1 1523 broad.mit.edu 37 7 101860088 101860089 + Intron INS - A A 2011-2325:2012-337-T g.chr7:101860088_101860089insA uc003uyx.3 + CUX1_uc003uys.3_Intron|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 ERICH1 157697 broad.mit.edu 37 8 626280 626281 + Intron INS - G G 2011-2325:2012-337-T g.chr8:626280_626281insG uc003wph.2 - ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron|ERICH1_uc003wpi.2_5'Flank NM_207332 NP_997215 ZNF395 55893 broad.mit.edu 37 8 28259089 28259090 + Intron INS - GC GC rs141287627 by1000genomes 2011-2325:2012-337-T g.chr8:28259089_28259090insGC uc003xgt.2 - NM_018660 NP_061130 COL5A1 1289 broad.mit.edu 37 9 137577353 137577359 + Intron DEL TCACCAT - - rs143525729;rs140307113 by1000genomes 2011-2325:2012-337-T g.chr9:137577353_137577359delTCACCAT uc004cfe.2 + NM_000093 NP_000084 EXD3 54932 broad.mit.edu 37 9 140249930 140249931 + Intron INS - G G rs111460149 by1000genomes 2011-2325:2012-337-T g.chr9:140249930_140249931insG uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron|EXD3_uc004cmq.1_Intron|EXD3_uc010ncg.1_Intron NM_017820 NP_060290 NOXA1 10811 broad.mit.edu 37 9 140324261 140324262 + Intron INS - GG GG 2011-2325:2012-337-T g.chr9:140324261_140324262insGG uc004cmv.2 + C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Intron|NOXA1_uc010nch.2_Intron NM_006647 NP_006638 HSFX2 100130086 broad.mit.edu 37 X 148686970 148686973 + Intron DEL CTTT - - 2011-2325:2012-337-T g.chrX:148686970_148686973delCTTT uc004fdl.2 - HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Intron|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc011mxq.1_Intron|TMEM185A_uc004fdp.3_Intron NM_016153 NP_057237 AGRN 375790 broad.mit.edu 37 1 965524 965525 + Intron DEL TG - - 2011-2326:2012-336-T g.chr1:965524_965525delTG uc001ack.1 + NM_198576 NP_940978 SCNN1D 6339 broad.mit.edu 37 1 1224716 1224717 + Intron DEL CC - - 2011-2326:2012-336-T g.chr1:1224716_1224717delCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 SCNN1D 6339 broad.mit.edu 37 1 1224736 1224737 + Intron DEL CC - - 2011-2326:2012-336-T g.chr1:1224736_1224737delCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 PRDM16 63976 broad.mit.edu 37 1 3097540 3097541 + Intron DEL AC - - 2011-2326:2012-336-T g.chr1:3097540_3097541delAC uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 SMYD3 64754 broad.mit.edu 37 1 246188217 246188218 + Intron INS - G G 2011-2326:2012-336-T g.chr1:246188217_246188218insG uc001ibl.2 - SMYD3_uc001ibk.2_Intron NM_022743 NP_073580 TMEM132B 114795 broad.mit.edu 37 12 125894422 125894422 + Intron DEL T - - 2011-2326:2012-336-T g.chr12:125894422delT uc001uhe.1 + NM_052907 NP_443139 PLEKHG3 26030 broad.mit.edu 37 14 65171103 65171110 + 5'Flank DEL CTCCCTCG - - rs72195665;rs71444670;rs36227928 2011-2326:2012-336-T g.chr14:65171103_65171110delCTCCCTCG uc001xho.1 + PLEKHG3_uc001xhn.1_5'Flank NM_015549 NP_056364 KIAA0284 283638 broad.mit.edu 37 14 105338827 105338830 + Intron DEL GTGT - - rs36135312;rs146297910 by1000genomes 2011-2326:2012-336-T g.chr14:105338827_105338830delGTGT uc010axb.2 + INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Intron NM_001112726 NP_001106197 PIGQ 9091 broad.mit.edu 37 16 621119 621131 + Intron DEL TGGTGCCCGTGTG - - 2011-2326:2012-336-T g.chr16:621119_621131delTGGTGCCCGTGTG uc002cho.2 + PIGQ_uc010bqw.2_Intron|PIGQ_uc002chm.2_Intron|PIGQ_uc002chn.2_Intron|PIGQ_uc010uui.1_5'Flank NM_148920 NP_683721 GALNS 2588 broad.mit.edu 37 16 88900868 88900869 + Intron DEL CC - - 2011-2326:2012-336-T g.chr16:88900868_88900869delCC uc002fly.3 - GALNS_uc010cid.2_Intron|GALNS_uc002flz.3_Intron NM_000512 NP_000503 RPH3AL 9501 broad.mit.edu 37 17 93711 93712 + Intron INS - T T rs151312982 by1000genomes 2011-2326:2012-336-T g.chr17:93711_93712insT uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 ABR 29 broad.mit.edu 37 17 1021770 1021771 + Intron INS - C C 2011-2326:2012-336-T g.chr17:1021770_1021771insC uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 9-Sep 10801 broad.mit.edu 37 17 75480593 75480594 + Intron INS - TGA TGA rs149437503 by1000genomes 2011-2326:2012-336-T g.chr17:75480593_75480594insTGA uc002jts.3 + SEPT9_uc010wtk.1_Intron|SEPT9_uc002jtt.3_Intron|SEPT9_uc002jtu.3_Intron|SEPT9_uc002jtv.2_Intron|SEPT9_uc002jtw.2_Intron|SEPT9_uc010wtl.1_Intron|SEPT9_uc002jty.3_Intron|SEPT9_uc010wtm.1_Intron|SEPT9_uc010wtn.1_Intron|SEPT9_uc010dhd.2_Intron NM_001113491 NP_001106963 INSR 3643 broad.mit.edu 37 19 7153086 7153086 + Intron DEL T - - rs117412731 by1000genomes 2011-2326:2012-336-T g.chr19:7153086delT uc002mgd.1 - INSR_uc002mge.1_Intron|INSR_uc002mgf.2_Intron NM_000208 NP_000199 ZNF558 148156 broad.mit.edu 37 19 8934094 8934094 + 5'Flank DEL G - - 2011-2326:2012-336-T g.chr19:8934094delG uc002mkn.1 - ZNF558_uc010xkh.1_5'Flank|ZNF558_uc010dwg.1_Intron NM_144693 NP_653294 CACNG7 59284 broad.mit.edu 37 19 54424471 54424472 + Intron INS - C C rs11414432;rs67538922 2011-2326:2012-336-T g.chr19:54424471_54424472insC uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 CACNG7 59284 broad.mit.edu 37 19 54425509 54425509 + Intron DEL T - - rs72318511 2011-2326:2012-336-T g.chr19:54425509delT uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 GPR35 2859 broad.mit.edu 37 2 241565449 241565450 + Intron INS - G G 2011-2326:2012-336-T g.chr2:241565449_241565450insG uc010fzh.1 + GPR35_uc010fzi.1_Intron NM_005301 NP_005292 GPR35 2859 broad.mit.edu 37 2 241565870 241565871 + 5'Flank INS - AG AG 2011-2326:2012-336-T g.chr2:241565870_241565871insAG uc002vzs.1 + GPR35_uc010fzh.1_Intron|GPR35_uc010fzi.1_Intron NM_005301 NP_005292 MPPED1 758 broad.mit.edu 37 22 43828681 43828682 + Intron INS - GA GA rs71890701 2011-2326:2012-336-T g.chr22:43828681_43828682insGA uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 TRIO 7204 broad.mit.edu 37 5 14403937 14403938 + Intron INS - GTT GTT 2011-2326:2012-336-T g.chr5:14403937_14403938insGTT uc003jff.2 + TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Intron NM_007118 NP_009049 RNF130 55819 broad.mit.edu 37 5 179442607 179442607 + Intron DEL G - - 2011-2326:2012-336-T g.chr5:179442607delG uc003mll.1 - RNF130_uc003mlm.1_Intron|MIR340_hsa-mir-340|MI0000802_5'Flank|uc003mln.2_5'Flank NM_018434 NP_060904 EGFR 1956 broad.mit.edu 37 7 55234287 55234288 + Intron INS - TGG TGG 2011-2326:2012-336-T g.chr7:55234287_55234288insTGG uc003tqk.2 + EGFR_uc003tqi.2_Intron|EGFR_uc003tqj.2_Intron|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Intron|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron NM_005228 NP_005219 PLXNA4 91584 broad.mit.edu 37 7 132248742 132248744 + Intron DEL CTC - - 2011-2326:2012-336-T g.chr7:132248742_132248744delCTC uc003vra.3 - PLXNA4_uc003vrc.2_Intron|PLXNA4_uc003vrb.2_Intron NM_020911 NP_065962 PTPRN2 5799 broad.mit.edu 37 7 158153257 158153258 + Intron INS - G G 2011-2326:2012-336-T g.chr7:158153257_158153258insG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 COL5A1 1289 broad.mit.edu 37 9 137577288 137577289 + Intron INS - A A rs117330509 2011-2326:2012-336-T g.chr9:137577288_137577289insA uc004cfe.2 + NM_000093 NP_000084 NOXA1 10811 broad.mit.edu 37 9 140324769 140324771 + Intron DEL AGA - - rs72178860 2011-2326:2012-336-T g.chr9:140324769_140324771delAGA uc004cmv.2 + C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Intron|NOXA1_uc010nch.2_Intron NM_006647 NP_006638 DIP2C 22982 broad.mit.edu 37 10 383178 383179 + Intron INS - AT AT 2011-2327:2012-308-T g.chr10:383178_383179insAT uc001ifp.2 - NM_014974 NP_055789 JAKMIP3 282973 broad.mit.edu 37 10 133974657 133974658 + Intron INS - G G 2011-2327:2012-308-T g.chr10:133974657_133974658insG uc001lkx.3 + JAKMIP3_uc009yba.1_Intron NM_001105521 NP_001098991 PRDX5 25824 broad.mit.edu 37 11 64088579 64088579 + Intron DEL G - - 2011-2327:2012-308-T g.chr11:64088579delG uc001nzu.2 + PRDX5_uc001nzv.2_Intron|PRDX5_uc001nzw.2_Intron|PRDX5_uc001nzx.2_Intron NM_012094 NP_036226 FAT3 120114 broad.mit.edu 37 11 92439145 92439150 + Intron DEL GTGATG - - rs113154343 2011-2327:2012-308-T g.chr11:92439145_92439150delGTGATG uc001pdj.3 + NM_001008781 NP_001008781 TMEM132D 121256 broad.mit.edu 37 12 130231934 130231935 + Intron DEL CA - - 2011-2327:2012-308-T g.chr12:130231934_130231935delCA uc009zyl.1 - NM_133448 NP_597705 COL4A2 1284 broad.mit.edu 37 13 111133970 111133970 + Intron DEL T - - rs67492412 2011-2327:2012-308-T g.chr13:111133970delT uc001vqx.2 + NM_001846 NP_001837 RIN3 79890 broad.mit.edu 37 14 93106558 93106559 + Intron DEL AC - - rs113342845 2011-2327:2012-308-T g.chr14:93106558_93106559delAC uc001yap.2 + RIN3_uc010auk.2_Intron|RIN3_uc001yaq.2_Intron NM_024832 NP_079108 RIN3 79890 broad.mit.edu 37 14 93106563 93106564 + Intron DEL GC - - rs61992593 2011-2327:2012-308-T g.chr14:93106563_93106564delGC uc001yap.2 + RIN3_uc010auk.2_Intron|RIN3_uc001yaq.2_Intron NM_024832 NP_079108 ADAMTS17 170691 broad.mit.edu 37 15 100598506 100598507 + Intron INS - T T rs150896439;rs68090700 by1000genomes 2011-2327:2012-308-T g.chr15:100598506_100598507insT uc002bvv.1 - NM_139057 NP_620688 CPNE7 27132 broad.mit.edu 37 16 89654473 89654473 + Intron DEL C - - 2011-2327:2012-308-T g.chr16:89654473delC uc002fnp.2 + CPNE7_uc002fnq.2_Intron NM_014427 NP_055242 DPEP1 1800 broad.mit.edu 37 16 89701013 89701013 + Intron DEL T - - 2011-2327:2012-308-T g.chr16:89701013delT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701019 89701019 + Intron DEL C - - 2011-2327:2012-308-T g.chr16:89701019delC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 ABR 29 broad.mit.edu 37 17 1021509 1021510 + Intron INS - C C 2011-2327:2012-308-T g.chr17:1021509_1021510insC uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 USP43 124739 broad.mit.edu 37 17 9619039 9619040 + Intron DEL TG - - 2011-2327:2012-308-T g.chr17:9619039_9619040delTG uc010cod.2 + USP43_uc002gma.3_Intron|USP43_uc010vva.1_Intron|USP43_uc010coe.2_Intron|USP43_uc002gmc.3_Intron NM_153210 NP_694942 NOTCH3 4854 broad.mit.edu 37 19 15273583 15273584 + Intron DEL TT - - rs5827278;rs57540484 2011-2327:2012-308-T g.chr19:15273583_15273584delTT uc002nan.2 - NM_000435 NP_000426 PRKCG 5582 broad.mit.edu 37 19 54383939 54383942 + 5'Flank DEL AGAC - - rs148408358;rs147747270;rs147903739 by1000genomes 2011-2327:2012-308-T g.chr19:54383939_54383942delAGAC uc002qcq.1 + PRKCG_uc010eqz.1_5'Flank|PRKCG_uc010yef.1_5'Flank|PRKCG_uc010yeg.1_5'Flank|PRKCG_uc010yeh.1_5'Flank NM_002739 NP_002730 TTC27 55622 broad.mit.edu 37 2 32980688 32980689 + Intron INS - G G 2011-2327:2012-308-T g.chr2:32980688_32980689insG uc002rom.2 + TTC27_uc010ymx.1_Intron|TTC27_uc002ron.2_Intron NM_017735 NP_060205 STAT1 6772 broad.mit.edu 37 2 191875369 191875370 + Intron DEL TC - - rs75760962;rs151254208 2011-2327:2012-308-T g.chr2:191875369_191875370delTC uc002usj.2 - STAT1_uc010fse.1_Intron|STAT1_uc002usk.2_Intron|STAT1_uc002usl.2_Intron|STAT1_uc010fsf.1_Intron NM_007315 NP_009330 TAF4 6874 broad.mit.edu 37 20 60557433 60557434 + Intron INS - A A rs149797595;rs68029920 by1000genomes 2011-2327:2012-308-T g.chr20:60557433_60557434insA uc002ybs.2 - NM_003185 NP_003176 MPPED1 758 broad.mit.edu 37 22 43828766 43828767 + Intron INS - G G 2011-2327:2012-308-T g.chr22:43828766_43828767insG uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 FAM19A5 25817 broad.mit.edu 37 22 48930004 48930005 + Intron INS - G G rs147079066 by1000genomes 2011-2327:2012-308-T g.chr22:48930004_48930005insG uc003bim.3 + NM_001082967 NP_001076436 GRK7 131890 broad.mit.edu 37 3 141529140 141529142 + Intron DEL CTC - - 2011-2327:2012-308-T g.chr3:141529140_141529142delCTC uc011bnd.1 + NM_139209 NP_631948 SORCS2 57537 broad.mit.edu 37 4 7479087 7479096 + Intron DEL GGCTGACCGT - - rs62277642;rs78756513;rs79892419 2011-2327:2012-308-T g.chr4:7479087_7479096delGGCTGACCGT uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 ZDHHC11 79844 broad.mit.edu 37 5 847115 847116 + Intron INS - G G 2011-2327:2012-308-T g.chr5:847115_847116insG uc011cma.1 - ZDHHC11_uc003jbj.2_Intron NM_024786 NP_079062 SLC12A7 10723 broad.mit.edu 37 5 1073398 1073398 + Intron DEL G - - 2011-2327:2012-308-T g.chr5:1073398delG uc003jbu.2 - NM_006598 NP_006589 ADAMTS16 170690 broad.mit.edu 37 5 5305406 5305407 + Intron DEL CA - - 2011-2327:2012-308-T g.chr5:5305406_5305407delCA uc003jdl.2 + NM_139056 NP_620687 FANCE 2178 broad.mit.edu 37 6 35426417 35426417 + Intron DEL T - - rs71794281 2011-2327:2012-308-T g.chr6:35426417delT uc003oko.1 + FANCE_uc010jvw.1_Intron NM_021922 NP_068741 SYNE1 23345 broad.mit.edu 37 6 152578100 152578100 + Intron DEL T - - 2011-2327:2012-308-T g.chr6:152578100delT uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron NM_182961 NP_892006 ARHGEF10 9639 broad.mit.edu 37 8 1780565 1780566 + Intron INS - AC AC rs144626635 by1000genomes 2011-2327:2012-308-T g.chr8:1780565_1780566insAC uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 CSMD3 114788 broad.mit.edu 37 8 113563156 113563157 + Intron INS - A A 2011-2327:2012-308-T g.chr8:113563156_113563157insA uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 TRAPPC9 83696 broad.mit.edu 37 8 141167330 141167330 + Intron DEL T - - 2011-2327:2012-308-T g.chr8:141167330delT uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 RALGDS 5900 broad.mit.edu 37 9 135999494 135999495 + 5'Flank INS - AG AG 2011-2327:2012-308-T g.chr9:135999494_135999495insAG uc004cco.2 - RALGDS_uc004ccp.2_5'Flank|RALGDS_uc004ccq.2_5'Flank|RALGDS_uc004ccr.2_Intron|RALGDS_uc011mcv.1_Intron|RALGDS_uc004ccs.2_Intron|RALGDS_uc011mcw.1_Intron NM_006266 NP_006257 SCNN1D 6339 broad.mit.edu 37 1 1225416 1225417 + Intron INS - CC CC 2011-2328:2012-1336-T g.chr1:1225416_1225417insCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 ADAM12 8038 broad.mit.edu 37 10 127940270 127940271 + Intron INS - A A 2011-2328:2012-1336-T g.chr10:127940270_127940271insA uc001ljk.2 - ADAM12_uc010qul.1_Intron|ADAM12_uc001ljm.2_Intron|ADAM12_uc001ljn.2_Intron|ADAM12_uc001ljl.3_Intron NM_003474 NP_003465 JAKMIP3 282973 broad.mit.edu 37 10 133973353 133973354 + Intron INS - A A 2011-2328:2012-1336-T g.chr10:133973353_133973354insA uc001lkx.3 + JAKMIP3_uc009yba.1_Intron NM_001105521 NP_001098991 ETV6 2120 broad.mit.edu 37 12 12200687 12200688 + Intron INS - TGTG TGTG 2011-2328:2012-1336-T g.chr12:12200687_12200688insTGTG uc001raa.1 + uc001rab.1_5'Flank NM_001987 NP_001978 COL4A1 1282 broad.mit.edu 37 13 110908230 110908231 + Intron INS - A A rs147787666 2011-2328:2012-1336-T g.chr13:110908230_110908231insA uc001vqw.3 - COL4A1_uc010agl.2_Intron NM_001845 NP_001836 GAS6 2621 broad.mit.edu 37 13 114544719 114544720 + Intron INS - T T 2011-2328:2012-1336-T g.chr13:114544719_114544720insT uc001vud.2 - uc010tki.1_5'Flank NM_000820 NP_000811 INF2 64423 broad.mit.edu 37 14 105187056 105187057 + Intron INS - C C 2011-2328:2012-1336-T g.chr14:105187056_105187057insC uc010tyi.1 + NM_022489 NP_071934 ABR 29 broad.mit.edu 37 17 1021854 1021855 + Intron INS - C C rs71358535 2011-2328:2012-1336-T g.chr17:1021854_1021855insC uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 TIMP2 7077 broad.mit.edu 37 17 76889375 76889375 + Intron DEL G - - 2011-2328:2012-1336-T g.chr17:76889375delG uc010wty.1 - TIMP2_uc002jwf.2_Intron|uc002jwg.1_Intron NM_003255 NP_003246 TBCD 6904 broad.mit.edu 37 17 80807066 80807067 + Intron INS - C C rs57484051 2011-2328:2012-1336-T g.chr17:80807066_80807067insC uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 ZNF236 7776 broad.mit.edu 37 18 74679557 74679558 + Intron INS - GGT GGT rs113352608 2011-2328:2012-1336-T g.chr18:74679557_74679558insGGT uc002lmi.2 + ZNF236_uc002lmj.2_Intron NM_007345 NP_031371 LPPR3 79948 broad.mit.edu 37 19 815467 815469 + Intron DEL CGT - - rs59458440 2011-2328:2012-1336-T g.chr19:815467_815469delCGT uc002lpx.1 - LPPR3_uc010dru.1_5'Flank|LPPR3_uc002lpw.1_Intron|LPPR3_uc002lpy.1_Intron NM_024888 NP_079164 SBNO2 22904 broad.mit.edu 37 19 1142158 1142159 + Intron INS - C C rs143272765 2011-2328:2012-1336-T g.chr19:1142158_1142159insC uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 HDGFRP2 84717 broad.mit.edu 37 19 4492888 4492889 + Intron INS - TG TG 2011-2328:2012-1336-T g.chr19:4492888_4492889insTG uc002mao.2 + HDGFRP2_uc002map.2_Intron|HDGFRP2_uc010dtz.1_Intron NM_001001520 NP_001001520 RMND5A 64795 broad.mit.edu 37 2 87624778 87624779 + Intron INS - C C 2011-2328:2012-1336-T g.chr2:87624778_87624779insC uc002srs.3 + C21orf56 84221 broad.mit.edu 37 21 47590279 47590279 + Intron DEL C - - rs72066640 2011-2328:2012-1336-T g.chr21:47590279delC uc011afu.1 - C21orf56_uc002zii.2_Intron NM_001142854 NP_001136326 C21orf56 84221 broad.mit.edu 37 21 47590317 47590318 + Intron INS - C C 2011-2328:2012-1336-T g.chr21:47590317_47590318insC uc011afu.1 - C21orf56_uc002zii.2_Intron NM_001142854 NP_001136326 SLC12A7 10723 broad.mit.edu 37 5 1072334 1072344 + Intron DEL AGCCCCCAGTG - - rs71281503 2011-2328:2012-1336-T g.chr5:1072334_1072344delAGCCCCCAGTG uc003jbu.2 - NM_006598 NP_006589 TERT 7015 broad.mit.edu 37 5 1273481 1273482 + Intron INS - CA CA 2011-2328:2012-1336-T g.chr5:1273481_1273482insCA uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 CTNND2 1501 broad.mit.edu 37 5 11182317 11182318 + Intron INS - GT GT 2011-2328:2012-1336-T g.chr5:11182317_11182318insGT uc003jfa.1 - CTNND2_uc010itt.2_Intron|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_Intron NM_001332 NP_001323 ADAMTS2 9509 broad.mit.edu 37 5 178639749 178639750 + Intron INS - C C rs111833467 2011-2328:2012-1336-T g.chr5:178639749_178639750insC uc003mjw.2 - ADAMTS2_uc011dgm.1_Intron NM_014244 NP_055059 GRM4 2914 broad.mit.edu 37 6 34040383 34040384 + Intron INS - C C 2011-2328:2012-1336-T g.chr6:34040383_34040384insC uc003oir.3 - GRM4_uc011dsn.1_Intron|GRM4_uc010jvh.2_Intron|GRM4_uc010jvi.2_Intron|GRM4_uc011dsl.1_Intron|GRM4_uc003oiq.2_Intron|GRM4_uc011dsm.1_Intron NM_000841 NP_000832 ADAP1 11033 broad.mit.edu 37 7 983069 983070 + Intron DEL AG - - 2011-2328:2012-1336-T g.chr7:983069_983070delAG uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 AUTS2 26053 broad.mit.edu 37 7 69961748 69961749 + Intron INS - CACA CACA 2011-2328:2012-1336-T g.chr7:69961748_69961749insCACA uc003tvw.3 + AUTS2_uc003tvx.3_Intron NM_015570 NP_056385 PLXNA4 91584 broad.mit.edu 37 7 132292868 132292870 + Intron DEL CAC - - rs142106118;rs11768185 by1000genomes 2011-2328:2012-1336-T g.chr7:132292868_132292870delCAC uc003vrb.2 - NM_181775 NP_861440 PTPRN2 5799 broad.mit.edu 37 7 157449698 157449699 + Intron DEL AT - - 2011-2328:2012-1336-T g.chr7:157449698_157449699delAT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 POMT1 10585 broad.mit.edu 37 9 134391317 134391317 + Intron DEL G - - rs75256542 2011-2328:2012-1336-T g.chr9:134391317delG uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 POMT1 10585 broad.mit.edu 37 9 134391321 134391321 + Intron DEL G - - 2011-2328:2012-1336-T g.chr9:134391321delG uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 SPSB1 80176 broad.mit.edu 37 1 9354328 9354329 + Intron INS - GTGA GTGA rs117359473;rs138940191 2011-2329:2012-1318-T g.chr1:9354328_9354329insGTGA uc010oae.1 + NM_025106 NP_079382 FAIM3 9214 broad.mit.edu 37 1 207097707 207097708 + 5'Flank INS - GT GT 2011-2329:2012-1318-T g.chr1:207097707_207097708insGT uc001hey.2 - FAIM3_uc010prz.1_5'Flank|FAIM3_uc010psa.1_5'Flank|FAIM3_uc010psb.1_5'Flank NM_005449 NP_005440 USH2A 7399 broad.mit.edu 37 1 215931923 215931923 + Intron DEL T - - 2011-2329:2012-1318-T g.chr1:215931923delT uc001hku.1 - NM_206933 NP_996816 CABC1 56997 broad.mit.edu 37 1 227148206 227148208 + Intron DEL TGG - - 2011-2329:2012-1318-T g.chr1:227148206_227148208delTGG uc001hqm.1 + CABC1_uc010pvp.1_Intron|CABC1_uc001hqn.1_Intron|CABC1_uc009xeq.1_Intron|CABC1_uc010pvq.1_Intron NM_020247 NP_064632 ADARB2 105 broad.mit.edu 37 10 1282188 1282189 + Intron INS - C C 2011-2329:2012-1318-T g.chr10:1282188_1282189insC uc009xhq.2 - NM_018702 NP_061172 KCNMA1 3778 broad.mit.edu 37 10 79266466 79266467 + Intron DEL GA - - rs66954176 2011-2329:2012-1318-T g.chr10:79266466_79266467delGA uc001jxn.2 - KCNMA1_uc001jxj.2_Intron|KCNMA1_uc001jxo.2_Intron|KCNMA1_uc001jxm.2_Intron|KCNMA1_uc001jxq.2_Intron NM_001161352 NP_001154824 LRRC27 80313 broad.mit.edu 37 10 134172181 134172183 + Intron DEL AGT - - rs76759658 2011-2329:2012-1318-T g.chr10:134172181_134172183delAGT uc010quw.1 + LRRC27_uc001llg.2_Intron|LRRC27_uc001lli.2_Intron|LRRC27_uc001llj.2_Intron|LRRC27_uc001llk.3_Intron NM_030626 NP_085129 LRRC27 80313 broad.mit.edu 37 10 134172210 134172212 + Intron DEL AGT - - 2011-2329:2012-1318-T g.chr10:134172210_134172212delAGT uc010quw.1 + LRRC27_uc001llg.2_Intron|LRRC27_uc001lli.2_Intron|LRRC27_uc001llj.2_Intron|LRRC27_uc001llk.3_Intron NM_030626 NP_085129 LRRC27 80313 broad.mit.edu 37 10 134172236 134172238 + Intron DEL AGC - - 2011-2329:2012-1318-T g.chr10:134172236_134172238delAGC uc010quw.1 + LRRC27_uc001llg.2_Intron|LRRC27_uc001lli.2_Intron|LRRC27_uc001llj.2_Intron|LRRC27_uc001llk.3_Intron NM_030626 NP_085129 RNH1 6050 broad.mit.edu 37 11 497211 497212 + Intron INS - CACA CACA rs146656956 by1000genomes 2011-2329:2012-1318-T g.chr11:497211_497212insCACA uc001lpk.1 - RNH1_uc001lpl.1_Intron|RNH1_uc001lpm.1_Intron|RNH1_uc001lpn.1_Intron|RNH1_uc001lpo.1_Intron|RNH1_uc009ybw.1_Intron|RNH1_uc001lpp.1_Intron|RNH1_uc001lpt.1_Intron|RNH1_uc001lpq.1_Intron|RNH1_uc001lpr.1_Intron|RNH1_uc001lps.1_Intron NM_203389 NP_976323 TSPAN9 10867 broad.mit.edu 37 12 3377442 3377443 + Intron INS - TG TG 2011-2329:2012-1318-T g.chr12:3377442_3377443insTG uc001qlp.2 + NM_006675 NP_006666 GPR133 283383 broad.mit.edu 37 12 131530812 131530812 + Intron DEL C - - rs66833346 2011-2329:2012-1318-T g.chr12:131530812delC uc001uit.3 + GPR133_uc010tbm.1_Intron NM_198827 NP_942122 GPR133 283383 broad.mit.edu 37 12 131530814 131530814 + Intron DEL C - - 2011-2329:2012-1318-T g.chr12:131530814delC uc001uit.3 + GPR133_uc010tbm.1_Intron NM_198827 NP_942122 FAM70B 348013 broad.mit.edu 37 13 114477723 114477729 + Intron DEL CACACAC - - 2011-2329:2012-1318-T g.chr13:114477723_114477729delCACACAC uc001vuh.2 + NM_182614 NP_872420 KIF26A 26153 broad.mit.edu 37 14 104631923 104631924 + Intron DEL TG - - 2011-2329:2012-1318-T g.chr14:104631923_104631924delTG uc001yos.3 + NM_015656 NP_056471 MFGE8 4240 broad.mit.edu 37 15 89444454 89444455 + Intron DEL AT - - rs112212637 2011-2329:2012-1318-T g.chr15:89444454_89444455delAT uc002bng.3 - MFGE8_uc002bnf.3_Intron|MFGE8_uc002bnh.3_Intron|MFGE8_uc010bnn.2_Intron|MFGE8_uc010upq.1_Intron|MFGE8_uc010upr.1_Intron NM_005928 NP_005919 ARHGAP17 55114 broad.mit.edu 37 16 25029262 25029262 + 5'Flank DEL T - - rs79150258 2011-2329:2012-1318-T g.chr16:25029262delT uc002dnb.2 - ARHGAP17_uc002dnc.2_5'Flank|ARHGAP17_uc010vcf.1_5'Flank|ARHGAP17_uc002dng.1_5'Flank NM_001006634 NP_001006635 CALB2 794 broad.mit.edu 37 16 71418630 71418631 + Intron INS - A A 2011-2329:2012-1318-T g.chr16:71418630_71418631insA uc002faa.3 + CALB2_uc010vme.1_Intron|CALB2_uc002fac.3_Intron NM_001740 NP_001731 ACSF3 197322 broad.mit.edu 37 16 89208974 89208975 + Intron INS - AG AG 2011-2329:2012-1318-T g.chr16:89208974_89208975insAG uc002fmp.2 + ACSF3_uc010cig.1_Intron|ACSF3_uc010cih.1_Intron|ACSF3_uc002fmq.1_Intron|ACSF3_uc010cii.1_Intron|ACSF3_uc002fmr.1_Intron NM_174917 NP_777577 BRCA1 672 broad.mit.edu 37 17 41278005 41278006 + 5'Flank INS - TGT TGT rs143017950 by1000genomes 2011-2329:2012-1318-T g.chr17:41278005_41278006insTGT uc002icq.2 - BRCA1_uc010whp.1_Intron|NBR2_uc002idf.2_Intron|NBR2_uc010czb.1_Intron|NBR2_uc002idg.2_Intron|NBR2_uc002idh.2_Intron|BRCA1_uc010whl.1_5'Flank|BRCA1_uc010whm.1_5'Flank|BRCA1_uc002icp.3_5'Flank|BRCA1_uc002icu.2_5'Flank|BRCA1_uc010cyx.2_5'Flank|BRCA1_uc002ict.2_5'Flank|BRCA1_uc010whn.1_5'Flank|BRCA1_uc010who.1_5'Flank|BRCA1_uc002idc.1_5'Flank|BRCA1_uc010whr.1_5'Flank|BRCA1_uc002idd.2_5'Flank|BRCA1_uc010cyy.1_5'Flank|BRCA1_uc010whs.1_5'Flank|BRCA1_uc010cyz.2_5'Flank|BRCA1_uc010cza.2_5'Flank|BRCA1_uc010wht.1_5'Flank NM_007294 NP_009225 RPTOR 57521 broad.mit.edu 37 17 78608443 78608453 + Intron DEL ATACTGTATGT - - rs140181873;rs72281071;rs116652321;rs72042835 by1000genomes;by1000genomes 2011-2329:2012-1318-T g.chr17:78608443_78608453delATACTGTATGT uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 RPTOR 57521 broad.mit.edu 37 17 78814113 78814114 + Intron INS - G G rs146204651 by1000genomes 2011-2329:2012-1318-T g.chr17:78814113_78814114insG uc002jyt.1 + RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 BAIAP2 10458 broad.mit.edu 37 17 79078806 79078807 + Intron INS - C C 2011-2329:2012-1318-T g.chr17:79078806_79078807insC uc002jzg.2 + BAIAP2_uc002jyz.3_Intron|BAIAP2_uc002jza.2_Intron|BAIAP2_uc002jzc.2_Intron|BAIAP2_uc002jzb.2_Intron|BAIAP2_uc002jzd.2_Intron|BAIAP2_uc002jzf.2_Intron|BAIAP2_uc002jze.2_Intron|BAIAP2_uc010wuh.1_Intron|BAIAP2_uc002jzh.2_Intron|BAIAP2_uc010wui.1_Intron NM_017451 NP_059345 AATK 9625 broad.mit.edu 37 17 79114560 79114561 + Intron INS - A A rs144645484 by1000genomes 2011-2329:2012-1318-T g.chr17:79114560_79114561insA uc010dia.2 - NM_001080395 NP_001073864 ZNF521 25925 broad.mit.edu 37 18 22932553 22932553 + 5'Flank DEL A - - 2011-2329:2012-1318-T g.chr18:22932553delA uc002kvk.2 - ZNF521_uc010xbe.1_5'Flank|ZNF521_uc010dly.2_5'Flank|ZNF521_uc002kvl.2_5'Flank NM_015461 NP_056276 FBN3 84467 broad.mit.edu 37 19 8150940 8150940 + Intron DEL A - - rs113722889 2011-2329:2012-1318-T g.chr19:8150940delA uc002mjf.2 - FBN3_uc002mje.2_Intron NM_032447 NP_115823 FBN3 84467 broad.mit.edu 37 19 8150949 8150950 + Intron INS - G G 2011-2329:2012-1318-T g.chr19:8150949_8150950insG uc002mjf.2 - FBN3_uc002mje.2_Intron NM_032447 NP_115823 U2AF2 11338 broad.mit.edu 37 19 56181835 56181835 + Intron DEL G - - rs146196962 by1000genomes 2011-2329:2012-1318-T g.chr19:56181835delG uc002qlu.2 + U2AF2_uc002qlt.2_Intron NM_007279 NP_009210 U2AF2 11338 broad.mit.edu 37 19 56181864 56181865 + Intron INS - C C 2011-2329:2012-1318-T g.chr19:56181864_56181865insC uc002qlu.2 + U2AF2_uc002qlt.2_Intron NM_007279 NP_009210 ZSCAN22 342945 broad.mit.edu 37 19 58838002 58838002 + 5'Flank DEL G - - 2011-2329:2012-1318-T g.chr19:58838002delG uc002qsc.2 + NM_181846 NP_862829 DYSF 8291 broad.mit.edu 37 2 71844937 71844938 + Intron DEL TG - - 2011-2329:2012-1318-T g.chr2:71844937_71844938delTG uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 DYSF 8291 broad.mit.edu 37 2 71845539 71845540 + Intron INS - AT AT 2011-2329:2012-1318-T g.chr2:71845539_71845540insAT uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 SFTPB 6439 broad.mit.edu 37 2 85893483 85893484 + Intron DEL TG - - rs72527559 2011-2329:2012-1318-T g.chr2:85893483_85893484delTG uc002sqh.2 - SFTPB_uc002sqi.2_Intron|SFTPB_uc002sqj.2_Intron NM_198843 NP_942140 AGAP1 116987 broad.mit.edu 37 2 236711445 236711446 + Intron INS - GTG GTG 2011-2329:2012-1318-T g.chr2:236711445_236711446insGTG uc002vvs.2 + AGAP1_uc002vvt.2_Intron NM_001037131 NP_001032208 ESPNL 339768 broad.mit.edu 37 2 239034690 239034693 + Intron DEL TGTG - - rs116731782 2011-2329:2012-1318-T g.chr2:239034690_239034693delTGTG uc002vxq.3 + ESPNL_uc010fyw.2_Intron NM_194312 NP_919288 HDAC4 9759 broad.mit.edu 37 2 240154325 240154325 + Intron DEL C - - 2011-2329:2012-1318-T g.chr2:240154325delC uc002vyk.3 - HDAC4_uc010fyz.1_Intron|HDAC4_uc010zoa.1_Intron|HDAC4_uc010fza.2_Intron|HDAC4_uc002vyl.1_Intron NM_006037 NP_006028 HDAC4 9759 broad.mit.edu 37 2 240154379 240154379 + Intron DEL C - - 2011-2329:2012-1318-T g.chr2:240154379delC uc002vyk.3 - HDAC4_uc010fyz.1_Intron|HDAC4_uc010zoa.1_Intron|HDAC4_uc010fza.2_Intron|HDAC4_uc002vyl.1_Intron NM_006037 NP_006028 HDAC4 9759 broad.mit.edu 37 2 240154395 240154395 + Intron DEL G - - 2011-2329:2012-1318-T g.chr2:240154395delG uc002vyk.3 - HDAC4_uc010fyz.1_Intron|HDAC4_uc010zoa.1_Intron|HDAC4_uc010fza.2_Intron|HDAC4_uc002vyl.1_Intron NM_006037 NP_006028 HDAC4 9759 broad.mit.edu 37 2 240154536 240154537 + Intron INS - C C 2011-2329:2012-1318-T g.chr2:240154536_240154537insC uc002vyk.3 - HDAC4_uc010fyz.1_Intron|HDAC4_uc010zoa.1_Intron|HDAC4_uc010fza.2_Intron|HDAC4_uc002vyl.1_Intron NM_006037 NP_006028 SNPH 9751 broad.mit.edu 37 20 1258392 1258393 + Intron DEL TG - - 2011-2329:2012-1318-T g.chr20:1258392_1258393delTG uc002wes.2 + SNPH_uc002wet.2_Intron NM_014723 NP_055538 OPRL1 4987 broad.mit.edu 37 20 62719950 62719951 + Intron INS - A A 2011-2329:2012-1318-T g.chr20:62719950_62719951insA uc002yic.2 + OPRL1_uc002yid.2_Intron NM_182647 NP_872588 OPRL1 4987 broad.mit.edu 37 20 62719952 62719953 + Intron INS - C C rs75452984 2011-2329:2012-1318-T g.chr20:62719952_62719953insC uc002yic.2 + OPRL1_uc002yid.2_Intron NM_182647 NP_872588 MN1 4330 broad.mit.edu 37 22 28194934 28194936 + In_Frame_Del DEL TGC - - rs34890218;rs45480998;rs45597040 2011-2329:2012-1318-T g.chr22:28194934_28194936delTGC uc003adj.2 - 1 2551_2553 c.1596_1598delGCA c.(1594-1599)CAGCAA>CAA p.532_533QQ>Q NM_002430 NP_002421 TGFBR2 7048 broad.mit.edu 37 3 30691872 30691872 + Frame_Shift_Del DEL A - - 2011-2329:2012-1318-T g.chr3:30691872delA uc003ceo.2 + 3 756 c.374delA c.(373-375)GAAfs p.E125fs TGFBR2_uc003cen.2_Frame_Shift_Del_p.E150fs NM_003242 NP_003233 PBRM1 55193 broad.mit.edu 37 3 52696311 52696311 + Intron DEL A - - 2011-2329:2012-1318-T g.chr3:52696311delA uc003des.2 - PBRM1_uc003dex.2_Intron|PBRM1_uc003deq.2_Intron|PBRM1_uc003der.2_Intron|PBRM1_uc003det.2_Intron|PBRM1_uc003deu.2_Intron|PBRM1_uc003dev.2_Intron|PBRM1_uc003dew.2_Intron|PBRM1_uc010hmk.1_Intron|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Intron|PBRM1_uc003dfb.1_Intron NM_181042 NP_060635 IFT122 55764 broad.mit.edu 37 3 129235130 129235131 + Intron DEL CA - - 2011-2329:2012-1318-T g.chr3:129235130_129235131delCA uc003emm.2 + IFT122_uc003eml.2_Intron|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Intron|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Intron NM_052989 NP_443715 GAK 2580 broad.mit.edu 37 4 850184 850186 + Intron DEL CAC - - rs139579125 by1000genomes 2011-2329:2012-1318-T g.chr4:850184_850186delCAC uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibi.2_Intron|GAK_uc010ibj.2_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 GAK 2580 broad.mit.edu 37 4 881055 881064 + Intron DEL ACTCACGTGT - - rs149567125;rs112995120 by1000genomes 2011-2329:2012-1318-T g.chr4:881055_881064delACTCACGTGT uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 NOP14 8602 broad.mit.edu 37 4 2947924 2947925 + Intron INS - CTCA CTCA rs143257718 2011-2329:2012-1318-T g.chr4:2947924_2947925insCTCA uc003ggj.1 - C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggk.3_Intron|NOP14_uc003ggl.2_Intron NM_003703 NP_003694 HTT 3064 broad.mit.edu 37 4 3101357 3101358 + Intron INS - TG TG rs10665872 2011-2329:2012-1318-T g.chr4:3101357_3101358insTG uc011bvq.1 + NM_002111 NP_002102 RGS12 6002 broad.mit.edu 37 4 3377001 3377002 + Intron INS - C C 2011-2329:2012-1318-T g.chr4:3377001_3377002insC uc003ggw.2 + RGS12_uc003ggu.2_Intron|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Intron|RGS12_uc003ggv.2_Intron|RGS12_uc003ggy.1_Intron|RGS12_uc010ict.1_Intron|RGS12_uc003ggz.2_Intron NM_198229 NP_937872 MTNR1A 4543 broad.mit.edu 37 4 187461961 187461962 + Intron INS - GAAG GAAG rs34538990 2011-2329:2012-1318-T g.chr4:187461961_187461962insGAAG uc003izd.1 - NM_005958 NP_005949 CEP72 55722 broad.mit.edu 37 5 650138 650139 + Intron DEL TG - - 2011-2329:2012-1318-T g.chr5:650138_650139delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650147 650148 + Intron INS - G G 2011-2329:2012-1318-T g.chr5:650147_650148insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650151 650152 + Intron DEL TG - - 2011-2329:2012-1318-T g.chr5:650151_650152delTG uc003jbf.2 + NM_018140 NP_060610 NKD2 85409 broad.mit.edu 37 5 1037066 1037067 + Intron DEL GT - - rs67132510 2011-2329:2012-1318-T g.chr5:1037066_1037067delGT uc003jbt.1 + NKD2_uc010itf.1_Intron NM_033120 NP_149111 SLC6A3 6531 broad.mit.edu 37 5 1422600 1422601 + Intron DEL CA - - 2011-2329:2012-1318-T g.chr5:1422600_1422601delCA uc003jck.2 - NM_001044 NP_001035 SLC6A3 6531 broad.mit.edu 37 5 1422638 1422639 + Intron DEL CA - - rs67284649 2011-2329:2012-1318-T g.chr5:1422638_1422639delCA uc003jck.2 - NM_001044 NP_001035 PIK3R1 5295 broad.mit.edu 37 5 67575339 67575339 + Intron DEL G - - rs76443259 2011-2329:2012-1318-T g.chr5:67575339delG uc003jva.2 + PIK3R1_uc003jvb.2_Intron NM_181523 NP_852664 COL23A1 91522 broad.mit.edu 37 5 177765587 177765589 + Intron DEL TGG - - rs57346711 2011-2329:2012-1318-T g.chr5:177765587_177765589delTGG uc003mje.2 - NM_173465 NP_775736 ADAMTS2 9509 broad.mit.edu 37 5 178561798 178561798 + Intron DEL C - - 2011-2329:2012-1318-T g.chr5:178561798delC uc003mjw.2 - NM_014244 NP_055059 HLA-G 3135 broad.mit.edu 37 6 29854982 29854983 + Intron DEL AC - - rs142373123;rs146815445 2011-2329:2012-1318-T g.chr6:29854982_29854983delAC uc011dmb.1 + HLA-H_uc003nod.2_5'Flank|HLA-H_uc010jro.2_5'Flank NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29854983 29854983 + Intron DEL C - - rs146815445 2011-2329:2012-1318-T g.chr6:29854983delC uc011dmb.1 + HLA-H_uc003nod.2_5'Flank|HLA-H_uc010jro.2_5'Flank NM_002127 NP_002118 RNGTT 8732 broad.mit.edu 37 6 89638989 89638989 + Intron DEL A - - rs111616936 2011-2329:2012-1318-T g.chr6:89638989delA uc003pmr.2 - RNGTT_uc003pms.2_Intron|RNGTT_uc011dzu.1_Intron|RNGTT_uc003pmt.2_Intron NM_003800 NP_003791 PKD1L1 168507 broad.mit.edu 37 7 47979920 47979921 + Intron INS - A A 2011-2329:2012-1318-T g.chr7:47979920_47979921insA uc003tny.1 - NM_138295 NP_612152 CUX1 1523 broad.mit.edu 37 7 101860088 101860089 + Intron INS - A A 2011-2329:2012-1318-T g.chr7:101860088_101860089insA uc003uyx.3 + CUX1_uc003uys.3_Intron|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 PTPRN2 5799 broad.mit.edu 37 7 157864147 157864148 + Intron INS - GG GG rs117111043 by1000genomes 2011-2329:2012-1318-T g.chr7:157864147_157864148insGG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc003wnt.1_5'Flank NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157864148 157864149 + Intron INS - G G rs117111043 by1000genomes 2011-2329:2012-1318-T g.chr7:157864148_157864149insG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc003wnt.1_5'Flank NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157981026 157981027 + Intron INS - T T rs11376534;rs33977963 2011-2329:2012-1318-T g.chr7:157981026_157981027insT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 WRN 7486 broad.mit.edu 37 8 30933817 30933817 + Intron DEL T - - 2011-2329:2012-1318-T g.chr8:30933817delT uc003xio.3 + NM_000553 NP_000544 PKHD1L1 93035 broad.mit.edu 37 8 110473965 110473966 + Intron INS - T T rs144083788;rs140313571 by1000genomes;by1000genomes 2011-2329:2012-1318-T g.chr8:110473965_110473966insT uc003yne.2 + NM_177531 NP_803875 TRAPPC9 83696 broad.mit.edu 37 8 141282112 141282113 + Intron INS - AG AG rs150940391 by1000genomes 2011-2329:2012-1318-T g.chr8:141282112_141282113insAG uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 NUP214 8021 broad.mit.edu 37 9 134014667 134014667 + Splice_Site DEL G - - 2011-2329:2012-1318-T g.chr9:134014667delG uc004cag.2 + 10 1117 c.1006_splice c.e10-1 p.I336_splice NUP214_uc004cah.2_Splice_Site_p.I336_splice|NUP214_uc004caf.1_Splice_Site_p.I336_splice NM_005085 NP_005076 POMT1 10585 broad.mit.edu 37 9 134391370 134391371 + Intron INS - GG GG 2011-2329:2012-1318-T g.chr9:134391370_134391371insGG uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 OBP2B 29989 broad.mit.edu 37 9 136081365 136081365 + Intron DEL C - - 2011-2329:2012-1318-T g.chr9:136081365delC uc004ccz.2 - OBP2B_uc010nad.2_Intron|OBP2B_uc011mcy.1_Intron NM_014581 NP_055396 PNPLA7 375775 broad.mit.edu 37 9 140393688 140393689 + Intron DEL AC - - 2011-2329:2012-1318-T g.chr9:140393688_140393689delAC uc004cnf.2 - C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Intron NM_152286 NP_689499 FAM48B1 100130302 broad.mit.edu 37 X 24382374 24382376 + In_Frame_Del DEL TGC - - 2011-2329:2012-1318-T g.chrX:24382374_24382376delTGC uc011mjx.1 + 1 1497_1499 c.1497_1499delTGC c.(1495-1500)ATTGCT>ATT p.A517del NM_001136234 NP_001129706 OPHN1 4983 broad.mit.edu 37 X 67459062 67459062 + Intron DEL G - - rs67901004 2011-2329:2012-1318-T g.chrX:67459062delG uc004dww.3 - OPHN1_uc011mpg.1_Intron|OPHN1_uc004dwx.2_Intron NM_002547 NP_002538 IL9R 3581 broad.mit.edu 37 X 155238641 155238642 + Intron DEL TG - - 2011-2329:2012-1318-T g.chrX:155238641_155238642delTG uc004fnv.1 + IL9R_uc004fnu.1_Intron NM_002186 NP_002177 AGRN 375790 broad.mit.edu 37 1 965007 965015 + Intron DEL GCATGTGTG - - rs71576588;rs35510832 2011-2330:2012-1337-T g.chr1:965007_965015delGCATGTGTG uc001ack.1 + NM_198576 NP_940978 AGRN 375790 broad.mit.edu 37 1 965799 965800 + Intron DEL GT - - 2011-2330:2012-1337-T g.chr1:965799_965800delGT uc001ack.1 + NM_198576 NP_940978 PRKCZ 5590 broad.mit.edu 37 1 2054395 2054396 + Intron INS - TTAC TTAC 2011-2330:2012-1337-T g.chr1:2054395_2054396insTTAC uc001aiq.2 + PRKCZ_uc001air.2_Intron|PRKCZ_uc010nyw.1_Intron|PRKCZ_uc001ais.2_Intron NM_002744 NP_002735 KIF1B 23095 broad.mit.edu 37 1 10292360 10292361 + 5'UTR DEL AT - - 2011-2330:2012-1337-T g.chr1:10292360_10292361delAT uc001aqx.3 + 2 KIF1B_uc001aqv.3_5'UTR|KIF1B_uc001aqw.3_5'UTR|KIF1B_uc001aqy.2_5'UTR|KIF1B_uc001aqz.2_5'UTR|KIF1B_uc001ara.2_5'UTR|KIF1B_uc001arb.2_5'UTR|KIF1B_uc009vmt.2_RNA NM_015074 NP_055889 PDE4DIP 9659 broad.mit.edu 37 1 144995278 144995278 + 5'Flank DEL G - - rs11305863 2011-2330:2012-1337-T g.chr1:144995278delG uc001elw.3 - NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_5'Flank|PDE4DIP_uc001ell.1_5'Flank|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001emc.1_5'Flank|PDE4DIP_uc001emd.1_5'Flank|PDE4DIP_uc001emg.1_5'Flank|PDE4DIP_uc001emh.2_Intron NM_014644 NP_055459 PDE4DIP 9659 broad.mit.edu 37 1 144995542 144995542 + 5'Flank DEL C - - rs60566131 2011-2330:2012-1337-T g.chr1:144995542delC uc001elw.3 - NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_5'Flank|PDE4DIP_uc001ell.1_5'Flank|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001emc.1_5'Flank|PDE4DIP_uc001emd.1_5'Flank|PDE4DIP_uc001emg.1_5'Flank|PDE4DIP_uc001emh.2_Intron NM_014644 NP_055459 PDE4DIP 9659 broad.mit.edu 37 1 144997337 144997337 + 5'Flank DEL G - - 2011-2330:2012-1337-T g.chr1:144997337delG uc001elw.3 - NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_5'Flank|PDE4DIP_uc001ell.1_5'Flank|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001emc.1_5'Flank|PDE4DIP_uc001emd.1_5'Flank|PDE4DIP_uc001emg.1_5'Flank|PDE4DIP_uc001emh.2_Intron NM_014644 NP_055459 C10orf90 118611 broad.mit.edu 37 10 128190673 128190674 + Intron DEL CA - - 2011-2330:2012-1337-T g.chr10:128190673_128190674delCA uc001ljq.2 - C10orf90_uc001ljp.2_Intron|C10orf90_uc010qum.1_Intron|C10orf90_uc009yao.2_Intron NM_001004298 NP_001004298 ODF3 113746 broad.mit.edu 37 11 196429 196430 + 5'Flank INS - A A 2011-2330:2012-1337-T g.chr11:196429_196430insA uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 RNH1 6050 broad.mit.edu 37 11 497211 497212 + Intron INS - CACA CACA rs146656956 by1000genomes 2011-2330:2012-1337-T g.chr11:497211_497212insCACA uc001lpk.1 - RNH1_uc001lpl.1_Intron|RNH1_uc001lpm.1_Intron|RNH1_uc001lpn.1_Intron|RNH1_uc001lpo.1_Intron|RNH1_uc009ybw.1_Intron|RNH1_uc001lpp.1_Intron|RNH1_uc001lpt.1_Intron|RNH1_uc001lpq.1_Intron|RNH1_uc001lpr.1_Intron|RNH1_uc001lps.1_Intron NM_203389 NP_976323 MUC5B 727897 broad.mit.edu 37 11 1153226 1153226 + Intron DEL T - - 2011-2330:2012-1337-T g.chr11:1153226delT uc009ycr.1 + NM_017511 NP_059981 MYO7A 4647 broad.mit.edu 37 11 76904299 76904301 + Intron DEL TGG - - 2011-2330:2012-1337-T g.chr11:76904299_76904301delTGG uc001oyb.2 + MYO7A_uc010rsm.1_Intron|MYO7A_uc001oyc.2_Intron|MYO7A_uc009yus.1_Intron|MYO7A_uc009yut.1_Intron NM_000260 NP_000251 ST8SIA1 6489 broad.mit.edu 37 12 22473901 22473902 + Intron INS - A A 2011-2330:2012-1337-T g.chr12:22473901_22473902insA uc001rfo.3 - ST8SIA1_uc009zix.2_Intron NM_003034 NP_003025 ST8SIA1 6489 broad.mit.edu 37 12 22473905 22473906 + Intron INS - A A 2011-2330:2012-1337-T g.chr12:22473905_22473906insA uc001rfo.3 - ST8SIA1_uc009zix.2_Intron NM_003034 NP_003025 ST8SIA1 6489 broad.mit.edu 37 12 22473909 22473910 + Intron INS - A A 2011-2330:2012-1337-T g.chr12:22473909_22473910insA uc001rfo.3 - ST8SIA1_uc009zix.2_Intron NM_003034 NP_003025 MTUS2 23281 broad.mit.edu 37 13 30065765 30065766 + Intron INS - T T 2011-2330:2012-1337-T g.chr13:30065765_30065766insT uc001usl.3 + MTUS2_uc001usm.3_Intron|MTUS2_uc010aau.2_Intron NM_001033602 NP_001028774 RASA3 22821 broad.mit.edu 37 13 114794221 114794222 + Intron INS - G G 2011-2330:2012-1337-T g.chr13:114794221_114794222insG uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron|RASA3_uc010aha.1_Intron NM_007368 NP_031394 INF2 64423 broad.mit.edu 37 14 105187436 105187437 + Intron INS - C C 2011-2330:2012-1337-T g.chr14:105187436_105187437insC uc010tyi.1 + NM_022489 NP_071934 BRF1 2972 broad.mit.edu 37 14 105682212 105682213 + Intron DEL CG - - rs7155574 2011-2330:2012-1337-T g.chr14:105682212_105682213delCG uc001yqp.2 - BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yqk.2_Intron|BRF1_uc001yql.2_Intron|BRF1_uc001yqo.2_Intron|BRF1_uc010axg.1_Intron|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_Intron NM_001519 NP_001510 SRL 6345 broad.mit.edu 37 16 4261525 4261526 + Intron INS - GAT GAT rs61123886 2011-2330:2012-1337-T g.chr16:4261525_4261526insGAT uc002cvz.3 - SRL_uc002cvy.3_Intron NM_001098814 NP_001092284 KIAA1468 57614 broad.mit.edu 37 18 59894429 59894429 + Intron DEL A - - rs35190394 2011-2330:2012-1337-T g.chr18:59894429delA uc002lil.2 + KIAA1468_uc002lik.1_Intron|KIAA1468_uc010xel.1_Intron|KIAA1468_uc002lim.2_Intron NM_020854 NP_065905 MIER2 54531 broad.mit.edu 37 19 309786 309787 + Intron DEL AC - - 2011-2330:2012-1337-T g.chr19:309786_309787delAC uc002lok.1 - NM_017550 NP_060020 LMNB2 84823 broad.mit.edu 37 19 2453086 2453086 + Intron DEL A - - rs115470424 by1000genomes 2011-2330:2012-1337-T g.chr19:2453086delA uc002lvy.2 - LMNB2_uc002lwa.1_Intron NM_032737 NP_116126 NLRP4 147945 broad.mit.edu 37 19 56348142 56348143 + 5'UTR INS - TT TT rs144237697;rs35397971 by1000genomes 2011-2330:2012-1337-T g.chr19:56348142_56348143insTT uc002qmd.3 + 1 NLRP11_uc010ygf.1_5'Flank|NLRP11_uc002qmc.2_5'Flank|NLRP11_uc010ete.1_5'Flank NM_134444 NP_604393 ZNF787 126208 broad.mit.edu 37 19 56603311 56603312 + Intron INS - AACGG AACGG rs62122406 2011-2330:2012-1337-T g.chr19:56603311_56603312insAACGG uc010eth.1 - NM_001002836 NP_001002836 SNTG2 54221 broad.mit.edu 37 2 1284975 1284976 + Intron INS - G G 2011-2330:2012-1337-T g.chr2:1284975_1284976insG uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 SNTG2 54221 broad.mit.edu 37 2 1284980 1284981 + Intron INS - T T 2011-2330:2012-1337-T g.chr2:1284980_1284981insT uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 SNTG2 54221 broad.mit.edu 37 2 1284985 1284986 + Intron INS - CT CT 2011-2330:2012-1337-T g.chr2:1284985_1284986insCT uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 SNTG2 54221 broad.mit.edu 37 2 1284994 1284995 + Intron INS - G G 2011-2330:2012-1337-T g.chr2:1284994_1284995insG uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 PXDN 7837 broad.mit.edu 37 2 1707041 1707042 + Intron INS - A A 2011-2330:2012-1337-T g.chr2:1707041_1707042insA uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 RMND5A 64795 broad.mit.edu 37 2 87643656 87643659 + Intron DEL CAGT - - 2011-2330:2012-1337-T g.chr2:87643656_87643659delCAGT uc002srs.3 + AGXT 189 broad.mit.edu 37 2 241811775 241811777 + Intron DEL GGC - - rs67019338 2011-2330:2012-1337-T g.chr2:241811775_241811777delGGC uc002waa.3 + AGXT_uc010zoi.1_Intron NM_000030 NP_000021 FARP2 9855 broad.mit.edu 37 2 242432789 242432790 + Frame_Shift_Del DEL TA - - 2011-2330:2012-1337-T g.chr2:242432789_242432790delTA uc002wbi.1 + 26 3094_3095 c.2977_2978delTA c.(2977-2979)TATfs p.Y993fs NM_014808 NP_055623 LAMA5 3911 broad.mit.edu 37 20 60889015 60889016 + Intron INS - GA GA 2011-2330:2012-1337-T g.chr20:60889015_60889016insGA uc002ycq.2 - NM_005560 NP_005551 SEZ6L 23544 broad.mit.edu 37 22 26723642 26723643 + Intron INS - AA AA 2011-2330:2012-1337-T g.chr22:26723642_26723643insAA uc003acb.2 + SEZ6L_uc003acc.2_Intron|SEZ6L_uc011akc.1_Intron|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Intron|SEZ6L_uc003ace.2_Intron|SEZ6L_uc003acf.1_Intron|SEZ6L_uc010gvc.1_Intron NM_021115 NP_066938 FAM19A5 25817 broad.mit.edu 37 22 48925479 48925480 + Intron INS - C C 2011-2330:2012-1337-T g.chr22:48925479_48925480insC uc003bim.3 + NM_001082967 NP_001076436 TTLL8 164714 broad.mit.edu 37 22 50467662 50467663 + Intron INS - C C 2011-2330:2012-1337-T g.chr22:50467662_50467663insC uc011ark.1 - NM_001080447 NP_001073916 RGS12 6002 broad.mit.edu 37 4 3364601 3364602 + Intron INS - GA GA rs78987284;rs35793370 2011-2330:2012-1337-T g.chr4:3364601_3364602insGA uc003ggw.2 + RGS12_uc003ggu.2_Intron|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Intron|RGS12_uc003ggv.2_Intron|RGS12_uc003ggy.1_Intron NM_198229 NP_937872 CEP72 55722 broad.mit.edu 37 5 650518 650519 + Intron INS - G G 2011-2330:2012-1337-T g.chr5:650518_650519insG uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1072619 1072619 + Intron DEL C - - 2011-2330:2012-1337-T g.chr5:1072619delC uc003jbu.2 - NM_006598 NP_006589 CTNND2 1501 broad.mit.edu 37 5 11182139 11182139 + Intron DEL A - - 2011-2330:2012-1337-T g.chr5:11182139delA uc003jfa.1 - CTNND2_uc010itt.2_Intron|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_Intron NM_001332 NP_001323 CTNND2 1501 broad.mit.edu 37 5 11240220 11240221 + Intron DEL AC - - 2011-2330:2012-1337-T g.chr5:11240220_11240221delAC uc003jfa.1 - CTNND2_uc010itt.2_Intron|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_Intron NM_001332 NP_001323 PIK3R1 5295 broad.mit.edu 37 5 67594400 67594400 + 3'UTR DEL A - - 2011-2330:2012-1337-T g.chr5:67594400delA uc003jva.2 + 16 PIK3R1_uc003jvb.2_3'UTR|PIK3R1_uc003jvc.2_3'UTR|PIK3R1_uc003jvd.2_3'UTR|PIK3R1_uc003jve.2_3'UTR NM_181523 NP_852664 HLA-B 3106 broad.mit.edu 37 6 31324430 31324431 + Intron INS - GGG GGG rs41541612 2011-2330:2012-1337-T g.chr6:31324430_31324431insGGG uc003nth.2 - HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_5'UTR|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_Intron NM_005514 NP_005505 RPS6KA2 6196 broad.mit.edu 37 6 166995598 166995598 + Intron DEL G - - 2011-2330:2012-1337-T g.chr6:166995598delG uc003qvb.1 - RPS6KA2_uc003qvc.1_Intron|RPS6KA2_uc003qvd.1_Intron NM_021135 NP_066958 FRMD1 79981 broad.mit.edu 37 6 168459022 168459022 + Intron DEL G - - rs67381566 2011-2330:2012-1337-T g.chr6:168459022delG uc003qwo.3 - FRMD1_uc003qwm.3_Intron|FRMD1_uc011egs.1_Intron|FRMD1_uc011egt.1_Intron|FRMD1_uc003qwn.3_Intron NM_024919 NP_079195 SMOC2 64094 broad.mit.edu 37 6 169015395 169015395 + Intron DEL T - - rs68108420 2011-2330:2012-1337-T g.chr6:169015395delT uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 SMOC2 64094 broad.mit.edu 37 6 169015398 169015398 + Intron DEL A - - rs67612893 2011-2330:2012-1337-T g.chr6:169015398delA uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 ADAP1 11033 broad.mit.edu 37 7 945930 945931 + Intron INS - A A 2011-2330:2012-1337-T g.chr7:945930_945931insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PTPRN2 5799 broad.mit.edu 37 7 157863286 157863287 + Intron INS - G G 2011-2330:2012-1337-T g.chr7:157863286_157863287insG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc003wnt.1_5'Flank NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157981137 157981138 + Intron INS - G G 2011-2330:2012-1337-T g.chr7:157981137_157981138insG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158316507 158316508 + Intron INS - GTC GTC 2011-2330:2012-1337-T g.chr7:158316507_158316508insGTC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ARHGEF10 9639 broad.mit.edu 37 8 1781170 1781171 + Intron DEL GC - - rs116073128 by1000genomes 2011-2330:2012-1337-T g.chr8:1781170_1781171delGC uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 ARHGEF10 9639 broad.mit.edu 37 8 1781190 1781193 + Intron DEL AGAC - - 2011-2330:2012-1337-T g.chr8:1781190_1781193delAGAC uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 KIAA0146 23514 broad.mit.edu 37 8 48676498 48676499 + Intron INS - T T 2011-2330:2012-1337-T g.chr8:48676498_48676499insT uc003xqg.1 + KIAA0146 23514 broad.mit.edu 37 8 48676502 48676503 + Intron INS - GGC GGC 2011-2330:2012-1337-T g.chr8:48676502_48676503insGGC uc003xqg.1 + UBR5 51366 broad.mit.edu 37 8 103425386 103425387 + 5'Flank INS - G G rs143650408;rs57619376 by1000genomes 2011-2330:2012-1337-T g.chr8:103425386_103425387insG uc003ykr.1 - UBR5_uc003yks.1_5'Flank NM_015902 NP_056986 SAMD12 401474 broad.mit.edu 37 8 119346102 119346103 + Intron DEL TG - - 2011-2330:2012-1337-T g.chr8:119346102_119346103delTG uc010mda.1 - SAMD12_uc010mdb.1_Intron NM_001101676 NP_001095146 HEATR7A 727957 broad.mit.edu 37 8 145288321 145288322 + Intron INS - C C rs138280914 2011-2330:2012-1337-T g.chr8:145288321_145288322insC uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 HEATR7A 727957 broad.mit.edu 37 8 145288431 145288432 + Intron INS - C C rs11435979;rs66838432 2011-2330:2012-1337-T g.chr8:145288431_145288432insC uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 NUP214 8021 broad.mit.edu 37 9 134000768 134000768 + 5'Flank DEL T - - rs3215836 2011-2330:2012-1337-T g.chr9:134000768delT uc004cag.2 + NUP214_uc004cah.2_5'Flank|NUP214_uc004caf.1_5'Flank NM_005085 NP_005076 HSFX2 100130086 broad.mit.edu 37 X 148687186 148687189 + Intron DEL CTTT - - 2011-2330:2012-1337-T g.chrX:148687186_148687189delCTTT uc004fdl.2 - HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Intron|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc011mxq.1_Intron|TMEM185A_uc004fdp.3_Intron NM_016153 NP_057237 PRDM16 63976 broad.mit.edu 37 1 3031189 3031190 + Intron INS - AC AC rs142682550;rs139562904 by1000genomes 2011-2331:2012-1338-T g.chr1:3031189_3031190insAC uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 GLIS1 148979 broad.mit.edu 37 1 54021772 54021773 + Intron DEL GT - - 2011-2331:2012-1338-T g.chr1:54021772_54021773delGT uc001cvr.1 - NM_147193 NP_671726 SIPA1L2 57568 broad.mit.edu 37 1 232551618 232551619 + Intron INS - AGTC AGTC 2011-2331:2012-1338-T g.chr1:232551618_232551619insAGTC uc001hvg.2 - SIPA1L2_uc001hvf.2_Intron NM_020808 NP_065859 PPP2R2D 55844 broad.mit.edu 37 10 133766277 133766278 + Intron INS - AGC AGC 2011-2331:2012-1338-T g.chr10:133766277_133766278insAGC uc001lks.2 + PPP2R2D_uc001lkr.2_Intron|PPP2R2D_uc001lkt.2_Intron|PPP2R2D_uc009yay.2_Intron NM_018461 NP_060931 ODF3 113746 broad.mit.edu 37 11 196480 196481 + 5'Flank INS - A A rs77218836 2011-2331:2012-1338-T g.chr11:196480_196481insA uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 ODF3 113746 broad.mit.edu 37 11 196520 196521 + 5'Flank INS - A A 2011-2331:2012-1338-T g.chr11:196520_196521insA uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 IGF2 3481 broad.mit.edu 37 11 2152727 2152727 + 3'UTR DEL C - - 2011-2331:2012-1338-T g.chr11:2152727delC uc009yde.2 - 4 IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_3'UTR|IGF2_uc009ydf.2_3'UTR|IGF2_uc001lvh.2_3'UTR|INS-IGF2_uc001lvi.2_RNA NM_001007139 NP_001007140 IGF2 3481 broad.mit.edu 37 11 2152745 2152746 + 3'UTR DEL TA - - 2011-2331:2012-1338-T g.chr11:2152745_2152746delTA uc009yde.2 - 4 IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_3'UTR|IGF2_uc009ydf.2_3'UTR|IGF2_uc001lvh.2_3'UTR|INS-IGF2_uc001lvi.2_RNA NM_001007139 NP_001007140 KCNC1 3746 broad.mit.edu 37 11 17785583 17785584 + Intron DEL CA - - 2011-2331:2012-1338-T g.chr11:17785583_17785584delCA uc001mnk.3 + KCNC1_uc009yhc.1_Intron NM_004976 NP_004967 MYO1H 283446 broad.mit.edu 37 12 109880919 109880920 + Intron INS - TA TA rs141189944;rs72295978 by1000genomes 2011-2331:2012-1338-T g.chr12:109880919_109880920insTA uc010sxo.1 + MYO1H_uc010sxn.1_Intron NCOR2 9612 broad.mit.edu 37 12 124916052 124916055 + Intron DEL ACAT - - 2011-2331:2012-1338-T g.chr12:124916052_124916055delACAT uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 TMEM132D 121256 broad.mit.edu 37 12 130340000 130340000 + Intron DEL G - - rs67064875 2011-2331:2012-1338-T g.chr12:130340000delG uc009zyl.1 - NM_133448 NP_597705 ATP12A 479 broad.mit.edu 37 13 25256540 25256541 + Intron DEL TG - - 2011-2331:2012-1338-T g.chr13:25256540_25256541delTG uc001upp.2 + ATP12A_uc010aaa.2_Intron NM_001676 NP_001667 CUL4A 8451 broad.mit.edu 37 13 113917337 113917339 + Intron DEL GTC - - 2011-2331:2012-1338-T g.chr13:113917337_113917339delGTC uc010tjy.1 + CUL4A_uc010tjx.1_Intron|CUL4A_uc010agu.2_Intron|CUL4A_uc010tjz.1_Intron NM_001008895 NP_001008895 TFDP1 7027 broad.mit.edu 37 13 114243020 114243022 + Intron DEL GTG - - rs72324177 2011-2331:2012-1338-T g.chr13:114243020_114243022delGTG uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 GRK1 6011 broad.mit.edu 37 13 114430666 114430667 + Intron INS - AGT AGT 2011-2331:2012-1338-T g.chr13:114430666_114430667insAGT uc010tkf.1 + NM_002929 NP_002920 INF2 64423 broad.mit.edu 37 14 105187090 105187091 + Intron INS - C C 2011-2331:2012-1338-T g.chr14:105187090_105187091insC uc010tyi.1 + NM_022489 NP_071934 AGBL1 123624 broad.mit.edu 37 15 87360878 87360879 + Intron DEL AG - - rs71408862 2011-2331:2012-1338-T g.chr15:87360878_87360879delAG uc002blz.1 + NM_152336 NP_689549 LMF1 64788 broad.mit.edu 37 16 1001068 1001069 + Intron INS - AAT AAT rs71960492 2011-2331:2012-1338-T g.chr16:1001068_1001069insAAT uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 1001122 1001123 + Intron DEL AG - - 2011-2331:2012-1338-T g.chr16:1001122_1001123delAG uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 ARHGAP17 55114 broad.mit.edu 37 16 25029262 25029262 + 5'Flank DEL T - - rs79150258 2011-2331:2012-1338-T g.chr16:25029262delT uc002dnb.2 - ARHGAP17_uc002dnc.2_5'Flank|ARHGAP17_uc010vcf.1_5'Flank|ARHGAP17_uc002dng.1_5'Flank NM_001006634 NP_001006635 NXN 64359 broad.mit.edu 37 17 797062 797062 + Intron DEL T - - 2011-2331:2012-1338-T g.chr17:797062delT uc002fsa.2 - NXN_uc002fsb.1_Intron NM_022463 NP_071908 ST8SIA5 29906 broad.mit.edu 37 18 44337563 44337563 + 5'Flank DEL C - - rs142771383 2011-2331:2012-1338-T g.chr18:44337563delC uc002lcj.1 - ST8SIA5_uc010xcy.1_5'Flank|ST8SIA5_uc010xcz.1_5'Flank|ST8SIA5_uc010dno.1_5'Flank NM_013305 NP_037437 ZNF516 9658 broad.mit.edu 37 18 74136620 74136621 + Intron DEL AT - - 2011-2331:2012-1338-T g.chr18:74136620_74136621delAT uc010dqx.1 - ZNF516_uc002lme.2_Intron NM_014643 NP_055458 ZNF236 7776 broad.mit.edu 37 18 74679557 74679558 + Intron INS - GGT GGT rs113352608 2011-2331:2012-1338-T g.chr18:74679557_74679558insGGT uc002lmi.2 + ZNF236_uc002lmj.2_Intron NM_007345 NP_031371 PQLC1 80148 broad.mit.edu 37 18 77680200 77680200 + Intron DEL A - - rs10711980 2011-2331:2012-1338-T g.chr18:77680200delA uc002lnl.2 - PQLC1_uc010dre.2_Intron|PQLC1_uc002lnk.2_Intron|PQLC1_uc010xfm.1_Intron NM_025078 NP_079354 GNG7 2788 broad.mit.edu 37 19 2576029 2576030 + Intron INS - GAAC GAAC rs138030482 by1000genomes 2011-2331:2012-1338-T g.chr19:2576029_2576030insGAAC uc002lwd.2 - NM_052847 NP_443079 ZNF554 115196 broad.mit.edu 37 19 2818547 2818548 + 5'Flank INS - C C 2011-2331:2012-1338-T g.chr19:2818547_2818548insC uc002lwm.2 + ZNF554_uc002lwl.2_5'Flank NM_001102651 NP_001096121 ZFR2 23217 broad.mit.edu 37 19 3820979 3820979 + Intron DEL G - - 2011-2331:2012-1338-T g.chr19:3820979delG uc002lyw.2 - NM_015174 NP_055989 C3 718 broad.mit.edu 37 19 6717656 6717657 + Intron DEL TG - - rs147541551 2011-2331:2012-1338-T g.chr19:6717656_6717657delTG uc002mfm.2 - NM_000064 NP_000055 CACNG7 59284 broad.mit.edu 37 19 54427248 54427248 + Intron DEL C - - 2011-2331:2012-1338-T g.chr19:54427248delC uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 MYT1L 23040 broad.mit.edu 37 2 1969003 1969004 + Intron DEL GC - - rs149817539 2011-2331:2012-1338-T g.chr2:1969003_1969004delGC uc002qxe.2 - MYT1L_uc002qxd.2_Intron NM_015025 NP_055840 CPSF3 51692 broad.mit.edu 37 2 9606310 9606311 + Intron DEL CA - - rs35125531 2011-2331:2012-1338-T g.chr2:9606310_9606311delCA uc002qzo.1 + CPSF3_uc002qzp.1_Intron|CPSF3_uc002qzq.1_Intron NM_016207 NP_057291 VPS24 51652 broad.mit.edu 37 2 86777501 86777502 + Intron INS - AAG AAG 2011-2331:2012-1338-T g.chr2:86777501_86777502insAAG uc002srj.2 - VPS24_uc002srk.2_Intron|VPS24_uc002srl.2_Intron|VPS24_uc010ytl.1_Intron NM_016079 NP_057163 STAT1 6772 broad.mit.edu 37 2 191875369 191875370 + Intron DEL TC - - rs75760962;rs151254208 2011-2331:2012-1338-T g.chr2:191875369_191875370delTC uc002usj.2 - STAT1_uc010fse.1_Intron|STAT1_uc002usk.2_Intron|STAT1_uc002usl.2_Intron|STAT1_uc010fsf.1_Intron NM_007315 NP_009330 RAMP1 10267 broad.mit.edu 37 2 238819026 238819027 + Intron DEL CA - - rs72032256 2011-2331:2012-1338-T g.chr2:238819026_238819027delCA uc002vxj.2 + NM_005855 NP_005846 ESPNL 339768 broad.mit.edu 37 2 239035231 239035232 + Intron DEL TG - - 2011-2331:2012-1338-T g.chr2:239035231_239035232delTG uc002vxq.3 + ESPNL_uc010fyw.2_Intron NM_194312 NP_919288 HDAC4 9759 broad.mit.edu 37 2 240297900 240297901 + Intron INS - CAC CAC 2011-2331:2012-1338-T g.chr2:240297900_240297901insCAC uc002vyk.3 - HDAC4_uc010fza.2_Intron NM_006037 NP_006028 TSHZ2 128553 broad.mit.edu 37 20 51624276 51624277 + Intron INS - GT GT rs149853842 by1000genomes 2011-2331:2012-1338-T g.chr20:51624276_51624277insGT uc002xwo.2 + NM_173485 NP_775756 LAMA5 3911 broad.mit.edu 37 20 60888969 60888970 + Intron DEL GT - - 2011-2331:2012-1338-T g.chr20:60888969_60888970delGT uc002ycq.2 - NM_005560 NP_005551 COL18A1 80781 broad.mit.edu 37 21 46904211 46904212 + Intron DEL CA - - rs72303199 2011-2331:2012-1338-T g.chr21:46904211_46904212delCA uc011afs.1 + COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Intron NM_130444 NP_569711 TP63 8626 broad.mit.edu 37 3 189348969 189348973 + 5'Flank DEL CTCCA - - rs76937731 2011-2331:2012-1338-T g.chr3:189348969_189348973delCTCCA uc003fry.2 + TP63_uc003frx.2_5'Flank|TP63_uc003frz.2_5'Flank|TP63_uc010hzc.1_5'Flank NM_003722 NP_003713 LAP3 51056 broad.mit.edu 37 4 17578813 17578814 + 5'Flank INS - AA AA 2011-2331:2012-1338-T g.chr4:17578813_17578814insAA uc003gph.1 + LAP3_uc010ieg.2_5'Flank NM_015907 NP_056991 POU4F2 5458 broad.mit.edu 37 4 147561259 147561261 + In_Frame_Del DEL CAC - - 2011-2331:2012-1338-T g.chr4:147561259_147561261delCAC uc003ikv.2 + 2 777_779 c.529_531delCAC c.(529-531)CACdel p.H182del NM_004575 NP_004566 SLC6A18 348932 broad.mit.edu 37 5 1238493 1238494 + Intron INS - A A 2011-2331:2012-1338-T g.chr5:1238493_1238494insA uc003jby.1 + NM_182632 NP_872438 SLC6A3 6531 broad.mit.edu 37 5 1422676 1422677 + Intron DEL CA - - rs67718451 2011-2331:2012-1338-T g.chr5:1422676_1422677delCA uc003jck.2 - NM_001044 NP_001035 SYNE1 23345 broad.mit.edu 37 6 152557633 152557634 + Intron INS - T T rs147792371 by1000genomes 2011-2331:2012-1338-T g.chr6:152557633_152557634insT uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron NM_182961 NP_892006 SMOC2 64094 broad.mit.edu 37 6 169015398 169015398 + Intron DEL A - - rs67612893 2011-2331:2012-1338-T g.chr6:169015398delA uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_5'Flank NM_022138 NP_071421 ADAP1 11033 broad.mit.edu 37 7 945360 945361 + Intron INS - A A rs147722082 by1000genomes 2011-2331:2012-1338-T g.chr7:945360_945361insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 C7orf23 79161 broad.mit.edu 37 7 86838982 86838983 + Intron INS - AGAC AGAC rs149690626 by1000genomes 2011-2331:2012-1338-T g.chr7:86838982_86838983insAGAC uc003uio.2 - NM_024315 NP_077291 PRKAG2 51422 broad.mit.edu 37 7 151367092 151367093 + Intron INS - CA CA 2011-2331:2012-1338-T g.chr7:151367092_151367093insCA uc003wkk.2 - PRKAG2_uc011kvl.1_Intron|PRKAG2_uc003wkj.2_Intron|PRKAG2_uc010lqe.1_Intron NM_016203 NP_057287 PTPRN2 5799 broad.mit.edu 37 7 157524256 157524256 + Intron DEL C - - 2011-2331:2012-1338-T g.chr7:157524256delC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158112108 158112109 + Intron INS - CCC CCC 2011-2331:2012-1338-T g.chr7:158112108_158112109insCCC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 DLGAP2 9228 broad.mit.edu 37 8 1509883 1509883 + Intron DEL G - - 2011-2331:2012-1338-T g.chr8:1509883delG uc003wpl.2 + DLGAP2_uc003wpm.2_Intron NM_004745 NP_004736 TOP1MT 116447 broad.mit.edu 37 8 144404893 144404894 + Intron DEL AG - - 2011-2331:2012-1338-T g.chr8:144404893_144404894delAG uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 TTF1 7270 broad.mit.edu 37 9 135252856 135252859 + Intron DEL GTGT - - 2011-2331:2012-1338-T g.chr9:135252856_135252859delGTGT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 AGRN 375790 broad.mit.edu 37 1 965839 965840 + Intron DEL AT - - 2011-2333:2012-309-T g.chr1:965839_965840delAT uc001ack.1 + NM_198576 NP_940978 CAMTA1 23261 broad.mit.edu 37 1 6997792 6997793 + Intron INS - C C 2011-2333:2012-309-T g.chr1:6997792_6997793insC uc001aoi.2 + NM_015215 NP_056030 CAMTA1 23261 broad.mit.edu 37 1 6997794 6997795 + Intron INS - TCATCACT TCATCACT 2011-2333:2012-309-T g.chr1:6997794_6997795insTCATCACT uc001aoi.2 + NM_015215 NP_056030 PARG 8505 broad.mit.edu 37 10 51502339 51502340 + Intron INS - TG TG 2011-2333:2012-309-T g.chr10:51502339_51502340insTG uc001jih.2 - uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron NM_003631 NP_003622 STK32C 282974 broad.mit.edu 37 10 134078678 134078679 + Intron INS - G G rs143806390 by1000genomes 2011-2333:2012-309-T g.chr10:134078678_134078679insG uc001lle.1 - STK32C_uc001lld.1_Intron|STK32C_uc010quu.1_Intron|STK32C_uc009ybc.1_Intron|STK32C_uc009ybd.1_Intron NM_173575 NP_775846 TSPAN4 7106 broad.mit.edu 37 11 859466 859467 + Intron DEL GG - - rs72313612 2011-2333:2012-309-T g.chr11:859466_859467delGG uc001lsd.1 + TSPAN4_uc001lse.1_Intron|TSPAN4_uc001lsf.1_Intron|TSPAN4_uc001lsg.1_Intron|TSPAN4_uc001lsh.1_Intron|TSPAN4_uc001lsi.1_Intron|TSPAN4_uc001lsj.1_Intron|uc001lsk.1_5'Flank NM_003271 NP_003262 SERGEF 26297 broad.mit.edu 37 11 17918410 17918411 + Intron INS - T T 2011-2333:2012-309-T g.chr11:17918410_17918411insT uc001mnm.2 - SERGEF_uc009yhd.2_Intron|SERGEF_uc001mnn.2_Intron|SERGEF_uc010rcz.1_Intron NM_012139 NP_036271 TP53I11 9537 broad.mit.edu 37 11 44963981 44963984 + Intron DEL ACAC - - rs111417341 2011-2333:2012-309-T g.chr11:44963981_44963984delACAC uc001myi.2 - TP53I11_uc001myf.1_Intron|TP53I11_uc001myj.2_Intron|TP53I11_uc001myk.2_Intron|TP53I11_uc001myl.2_Intron|TP53I11_uc001mym.2_Intron NM_006034 NP_006025 PZP 5858 broad.mit.edu 37 12 9313510 9313511 + Intron INS - A A 2011-2333:2012-309-T g.chr12:9313510_9313511insA uc001qvl.2 - PZP_uc009zgl.2_Intron|PZP_uc010sgo.1_Intron NM_002864 NP_002855 NCOR2 9612 broad.mit.edu 37 12 124916419 124916420 + Intron DEL AC - - 2011-2333:2012-309-T g.chr12:124916419_124916420delAC uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 NCOR2 9612 broad.mit.edu 37 12 124923627 124923628 + Intron INS - G G rs117780864 2011-2333:2012-309-T g.chr12:124923627_124923628insG uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 NCOR2 9612 broad.mit.edu 37 12 124923628 124923629 + Intron INS - GAG GAG rs117780864 2011-2333:2012-309-T g.chr12:124923628_124923629insGAG uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 ZDHHC20 253832 broad.mit.edu 37 13 21951790 21951791 + Intron DEL CT - - 2011-2333:2012-309-T g.chr13:21951790_21951791delCT uc001uob.2 - ZDHHC20_uc001uod.2_Intron|ZDHHC20_uc001uoc.2_Intron|ZDHHC20_uc001uoe.2_Intron|ZDHHC20_uc010tcs.1_Intron NM_153251 NP_694983 KIAA1024 23251 broad.mit.edu 37 15 79744967 79744968 + Intron INS - GTCT GTCT rs147936332 by1000genomes 2011-2333:2012-309-T g.chr15:79744967_79744968insGTCT uc002bew.1 + NM_015206 NP_056021 MFGE8 4240 broad.mit.edu 37 15 89444235 89444236 + Intron DEL CA - - rs112640512 2011-2333:2012-309-T g.chr15:89444235_89444236delCA uc002bng.3 - MFGE8_uc002bnf.3_Intron|MFGE8_uc002bnh.3_Intron|MFGE8_uc010bnn.2_Intron|MFGE8_uc010upq.1_Intron|MFGE8_uc010upr.1_Intron NM_005928 NP_005919 LRRK1 79705 broad.mit.edu 37 15 101481314 101481315 + Intron DEL TG - - 2011-2333:2012-309-T g.chr15:101481314_101481315delTG uc002bwr.2 + LRRK1_uc010usb.1_Intron|LRRK1_uc010usc.1_Intron|LRRK1_uc002bwq.1_Intron NM_024652 NP_078928 TP53 7157 broad.mit.edu 37 17 7577058 7577058 + Frame_Shift_Del DEL C - - 2011-2333:2012-309-T g.chr17:7577058delC uc002gim.2 - 8 1074 c.880delG c.(880-882)GAGfs p.E294fs TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.E294fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.E162fs|TP53_uc010cng.1_Frame_Shift_Del_p.E162fs|TP53_uc002gii.1_Frame_Shift_Del_p.E162fs|TP53_uc010cnh.1_Frame_Shift_Del_p.E294fs|TP53_uc010cni.1_Frame_Shift_Del_p.E294fs|TP53_uc002gij.2_Frame_Shift_Del_p.E294fs NM_001126112 NP_001119584 THRA 7067 broad.mit.edu 37 17 38243562 38243563 + Intron DEL AC - - 2011-2333:2012-309-T g.chr17:38243562_38243563delAC uc002htw.2 + THRA_uc010cwp.1_Intron|THRA_uc002htv.2_Intron|THRA_uc002htx.2_Intron NM_003250 NP_003241 B3GNTL1 146712 broad.mit.edu 37 17 80929913 80929913 + Intron DEL C - - rs10710274 2011-2333:2012-309-T g.chr17:80929913delC uc002kgg.1 - B3GNTL1_uc002kgf.1_Intron|B3GNTL1_uc002kge.1_Intron NM_001009905 NP_001009905 PQLC1 80148 broad.mit.edu 37 18 77681831 77681831 + Intron DEL A - - rs142134730 by1000genomes 2011-2333:2012-309-T g.chr18:77681831delA uc002lnl.2 - PQLC1_uc010dre.2_Intron|PQLC1_uc002lnk.2_Intron|PQLC1_uc010xfm.1_Intron NM_025078 NP_079354 SBNO2 22904 broad.mit.edu 37 19 1164603 1164605 + Intron DEL AGG - - 2011-2333:2012-309-T g.chr19:1164603_1164605delAGG uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 PPP1R12C 54776 broad.mit.edu 37 19 55608246 55608247 + Intron INS - T T rs36197554 2011-2333:2012-309-T g.chr19:55608246_55608247insT uc002qix.2 - PPP1R12C_uc010yfs.1_Intron|PPP1R12C_uc002qiy.2_Intron NM_017607 NP_060077 SNTG2 54221 broad.mit.edu 37 2 1285325 1285326 + Intron DEL GT - - 2011-2333:2012-309-T g.chr2:1285325_1285326delGT uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 RMND5A 64795 broad.mit.edu 37 2 87643658 87643660 + Intron DEL GTC - - 2011-2333:2012-309-T g.chr2:87643658_87643660delGTC uc002srs.3 + SRC 6714 broad.mit.edu 37 20 35990230 35990237 + Intron DEL GTAGAGAT - - rs112316453;rs66592675 2011-2333:2012-309-T g.chr20:35990230_35990237delGTAGAGAT uc002xgx.2 + SRC_uc002xgy.2_Intron NM_005417 NP_005408 FAM19A5 25817 broad.mit.edu 37 22 48938485 48938489 + Intron DEL ATGTT - - 2011-2333:2012-309-T g.chr22:48938485_48938489delATGTT uc003bim.3 + NM_001082967 NP_001076436 FAM19A5 25817 broad.mit.edu 37 22 48938495 48938496 + Intron INS - AT AT 2011-2333:2012-309-T g.chr22:48938495_48938496insAT uc003bim.3 + NM_001082967 NP_001076436 BBX 56987 broad.mit.edu 37 3 107242066 107242068 + Intron DEL GCG - - rs63194160 2011-2333:2012-309-T g.chr3:107242066_107242068delGCG uc010hpr.2 + BBX_uc003dwk.3_Intron|BBX_uc003dwl.3_Intron NM_001142568 NP_001136040 TNK2 10188 broad.mit.edu 37 3 195597917 195597918 + Intron INS - G G 2011-2333:2012-309-T g.chr3:195597917_195597918insG uc003fvu.1 - TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Intron|TNK2_uc003fvs.1_Intron|TNK2_uc003fvt.1_Intron|TNK2_uc010hzw.1_Intron|TNK2_uc003fvv.1_Intron NM_005781 NP_005772 SLC12A7 10723 broad.mit.edu 37 5 1070447 1070447 + Intron DEL G - - 2011-2333:2012-309-T g.chr5:1070447delG uc003jbu.2 - NM_006598 NP_006589 SYNJ2 8871 broad.mit.edu 37 6 158441373 158441374 + Intron DEL AC - - 2011-2333:2012-309-T g.chr6:158441373_158441374delAC uc003qqx.1 + SYNJ2_uc011efm.1_Intron|SYNJ2_uc003qqw.1_Intron|SYNJ2_uc003qqy.1_Intron|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Intron NM_003898 NP_003889 PLXNA4 91584 broad.mit.edu 37 7 132247127 132247129 + Intron DEL CCT - - 2011-2333:2012-309-T g.chr7:132247127_132247129delCCT uc003vra.3 - PLXNA4_uc003vrc.2_Intron|PLXNA4_uc003vrb.2_Intron NM_020911 NP_065962 FAM167A 83648 broad.mit.edu 37 8 11313145 11313146 + Intron INS - GTGT GTGT rs150606798 by1000genomes 2011-2333:2012-309-T g.chr8:11313145_11313146insGTGT uc003wtw.2 - NM_053279 NP_444509 GRHL2 79977 broad.mit.edu 37 8 102664588 102664589 + Intron INS - G G 2011-2333:2012-309-T g.chr8:102664588_102664589insG uc010mbu.2 + NM_024915 NP_079191 COL22A1 169044 broad.mit.edu 37 8 139818435 139818436 + Intron INS - CA CA 2011-2333:2012-309-T g.chr8:139818435_139818436insCA uc003yvd.2 - NM_152888 NP_690848 ARHGAP39 80728 broad.mit.edu 37 8 145913107 145913108 + 5'Flank INS - C C 2011-2333:2012-309-T g.chr8:145913107_145913108insC uc011llk.1 - NM_025251 NP_079527 TRPM3 80036 broad.mit.edu 37 9 73946788 73946788 + Intron DEL A - - 2011-2333:2012-309-T g.chr9:73946788delA uc004aii.2 - NM_206948 NP_996831 RALGDS 5900 broad.mit.edu 37 9 135999375 135999376 + 5'Flank DEL AC - - 2011-2333:2012-309-T g.chr9:135999375_135999376delAC uc004cco.2 - RALGDS_uc004ccp.2_5'Flank|RALGDS_uc004ccq.2_5'Flank|RALGDS_uc004ccr.2_Intron|RALGDS_uc011mcv.1_Intron|RALGDS_uc004ccs.2_Intron|RALGDS_uc011mcw.1_Intron NM_006266 NP_006257 RXRA 6256 broad.mit.edu 37 9 137231361 137231362 + Intron INS - TG TG rs140582836 by1000genomes 2011-2333:2012-309-T g.chr9:137231361_137231362insTG uc004cfb.2 + RXRA_uc004cfa.1_Intron NM_002957 NP_002948 OLFM1 10439 broad.mit.edu 37 9 137983546 137983547 + Intron DEL GT - - 2011-2333:2012-309-T g.chr9:137983546_137983547delGT uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfk.3_Intron|OLFM1_uc004cfm.3_Intron NM_014279 NP_055094 EXD3 54932 broad.mit.edu 37 9 140249895 140249895 + Intron DEL G - - 2011-2333:2012-309-T g.chr9:140249895delG uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron|EXD3_uc004cmq.1_Intron|EXD3_uc010ncg.1_Intron NM_017820 NP_060290 SHOX 6473 broad.mit.edu 37 X 583479 583480 + 5'Flank INS - C C 2011-2333:2012-309-T g.chrX:583479_583480insC uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 CSF2RA 1438 broad.mit.edu 37 X 1408581 1408582 + Intron INS - TTTTG TTTTG 2011-2333:2012-309-T g.chrX:1408581_1408582insTTTTG uc010nct.2 + CSF2RA_uc011mhb.1_Intron|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Intron|CSF2RA_uc004cpo.2_Intron|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Intron|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_Intron|CSF2RA_uc004cpr.2_Intron NM_001161529 NP_001155001 NKAP 79576 broad.mit.edu 37 X 119068419 119068419 + Intron DEL G - - 2011-2333:2012-309-T g.chrX:119068419delG uc004esh.2 - NKAP_uc004esg.2_Intron NM_024528 NP_078804 AGRN 375790 broad.mit.edu 37 1 965420 965421 + Intron INS - TGG TGG 2011-2334:2012-1339-T g.chr1:965420_965421insTGG uc001ack.1 + NM_198576 NP_940978 MEGF6 1953 broad.mit.edu 37 1 3488848 3488849 + Intron INS - T T 2011-2334:2012-1339-T g.chr1:3488848_3488849insT uc001akl.2 - NM_001409 NP_001400 CASZ1 54897 broad.mit.edu 37 1 10760050 10760051 + Intron DEL AG - - 2011-2334:2012-1339-T g.chr1:10760050_10760051delAG uc001aro.2 - CASZ1_uc001arp.1_Intron NM_001079843 NP_001073312 CASZ1 54897 broad.mit.edu 37 1 10804785 10804788 + Intron DEL GGGC - - rs148489185 2011-2334:2012-1339-T g.chr1:10804785_10804788delGGGC uc001aro.2 - CASZ1_uc001arp.1_Intron NM_001079843 NP_001073312 DHRS3 9249 broad.mit.edu 37 1 12645412 12645413 + Intron DEL TG - - rs113806651 2011-2334:2012-1339-T g.chr1:12645412_12645413delTG uc001auc.2 - DHRS3_uc001aub.2_Intron|DHRS3_uc009vnm.2_Intron|DHRS3_uc001aud.3_Intron|DHRS3_uc001aue.1_Intron NM_004753 NP_004744 MFSD2A 84879 broad.mit.edu 37 1 40430434 40430435 + Intron DEL GT - - 2011-2334:2012-1339-T g.chr1:40430434_40430435delGT uc001cev.2 + MFSD2A_uc010ojb.1_Intron|MFSD2A_uc001ceu.2_Intron|MFSD2A_uc010ojc.1_Intron|MFSD2A_uc009vvy.2_Intron|MFSD2A_uc001cex.2_5'Flank NM_001136493 NP_001129965 NOS1AP 9722 broad.mit.edu 37 1 162332218 162332225 + Intron DEL GTGACAGA - - rs11277545;rs60162928 2011-2334:2012-1339-T g.chr1:162332218_162332225delGTGACAGA uc001gbv.2 + NOS1AP_uc010pks.1_Intron|NOS1AP_uc001gbw.2_Intron|NOS1AP_uc009wut.1_5'Flank NM_014697 NP_055512 CD247 919 broad.mit.edu 37 1 167404307 167404307 + Intron DEL T - - 2011-2334:2012-1339-T g.chr1:167404307delT uc001gei.3 - CD247_uc001gej.3_Intron NM_198053 NP_932170 LGR6 59352 broad.mit.edu 37 1 202173499 202173501 + Intron DEL CCT - - 2011-2334:2012-1339-T g.chr1:202173499_202173501delCCT uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 LGR6 59352 broad.mit.edu 37 1 202174104 202174105 + Intron INS - AC AC 2011-2334:2012-1339-T g.chr1:202174104_202174105insAC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 WNT9A 7483 broad.mit.edu 37 1 228122741 228122742 + Intron DEL AG - - rs68033125 2011-2334:2012-1339-T g.chr1:228122741_228122742delAG uc001hri.2 - NM_003395 NP_003386 DISC1 27185 broad.mit.edu 37 1 232173718 232173721 + 3'UTR DEL AGTA - - rs71927075;rs71162209 2011-2334:2012-1339-T g.chr1:232173718_232173721delAGTA uc001huz.2 + 13 DISC1_uc001hva.2_3'UTR NM_018662 NP_061132 FMN2 56776 broad.mit.edu 37 1 240348361 240348362 + Intron INS - C C rs71646823 by1000genomes 2011-2334:2012-1339-T g.chr1:240348361_240348362insC uc010pyd.1 + FMN2_uc010pye.1_Intron NM_020066 NP_064450 DIP2C 22982 broad.mit.edu 37 10 578482 578483 + Intron INS - GA GA rs149618724;rs34964227 2011-2334:2012-1339-T g.chr10:578482_578483insGA uc001ifp.2 - NM_014974 NP_055789 DIP2C 22982 broad.mit.edu 37 10 578609 578610 + Intron DEL GA - - rs10546313;rs12770984 2011-2334:2012-1339-T g.chr10:578609_578610delGA uc001ifp.2 - NM_014974 NP_055789 ITIH5 80760 broad.mit.edu 37 10 7670630 7670631 + Intron DEL AT - - 2011-2334:2012-1339-T g.chr10:7670630_7670631delAT uc001ijq.2 - ITIH5_uc001ijr.1_Intron NM_030569 NP_085046 PCDH15 65217 broad.mit.edu 37 10 56561382 56561385 + 5'Flank DEL TCTC - - 2011-2334:2012-1339-T g.chr10:56561382_56561385delTCTC uc001jju.1 - PCDH15_uc010qhq.1_5'Flank|PCDH15_uc010qhr.1_5'Flank|PCDH15_uc010qhs.1_5'Flank|PCDH15_uc010qht.1_5'Flank|PCDH15_uc010qhu.1_5'Flank|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_5'Flank|PCDH15_uc010qhw.1_5'Flank|PCDH15_uc010qhx.1_5'Flank|PCDH15_uc010qhy.1_5'Flank|PCDH15_uc010qhz.1_5'Flank|PCDH15_uc010qia.1_5'Flank|PCDH15_uc010qib.1_5'Flank|PCDH15_uc001jjw.2_5'Flank NM_033056 NP_149045 MAT1A 4143 broad.mit.edu 37 10 82039540 82039541 + Intron INS - AG AG 2011-2334:2012-1339-T g.chr10:82039540_82039541insAG uc001kbw.2 - NM_000429 NP_000420 MAT1A 4143 broad.mit.edu 37 10 82039574 82039575 + Intron DEL AC - - rs144636836 by1000genomes 2011-2334:2012-1339-T g.chr10:82039574_82039575delAC uc001kbw.2 - NM_000429 NP_000420 PTEN 5728 broad.mit.edu 37 10 89626375 89626376 + Intron INS - C C rs142681768;rs66749138 by1000genomes 2011-2334:2012-1339-T g.chr10:89626375_89626376insC uc001kfb.2 + NM_000314 NP_000305 GPR123 84435 broad.mit.edu 37 10 134892065 134892068 + Intron DEL GTGT - - 2011-2334:2012-1339-T g.chr10:134892065_134892068delGTGT uc001llw.2 + KNDC1 85442 broad.mit.edu 37 10 135037438 135037439 + Intron INS - AT AT 2011-2334:2012-1339-T g.chr10:135037438_135037439insAT uc001llz.1 + NM_152643 NP_689856 CALY 50632 broad.mit.edu 37 10 135152138 135152139 + 5'Flank DEL AC - - 2011-2334:2012-1339-T g.chr10:135152138_135152139delAC uc001lmo.2 - NM_015722 NP_056537 SWAP70 23075 broad.mit.edu 37 11 9726930 9726931 + Intron INS - T T 2011-2334:2012-1339-T g.chr11:9726930_9726931insT uc001mhw.2 + SWAP70_uc001mhv.2_Intron|SWAP70_uc001mhx.2_Intron NM_015055 NP_055870 CD248 57124 broad.mit.edu 37 11 66083171 66083173 + In_Frame_Del DEL GAG - - 2011-2334:2012-1339-T g.chr11:66083171_66083173delGAG uc001ohm.1 - 1 1343_1345 c.1326_1328delCTC c.(1324-1329)TCCTCA>TCA p.442_443SS>S NM_020404 NP_065137 SHANK2 22941 broad.mit.edu 37 11 70633288 70633290 + Intron DEL CAA - - 2011-2334:2012-1339-T g.chr11:70633288_70633290delCAA uc001oqc.2 - NM_012309 NP_036441 SHANK2 22941 broad.mit.edu 37 11 70668939 70668940 + Intron INS - G G rs145988984;rs11237614 by1000genomes 2011-2334:2012-1339-T g.chr11:70668939_70668940insG uc001oqc.2 - NM_012309 NP_036441 IGSF9B 22997 broad.mit.edu 37 11 133802469 133802470 + Intron DEL AG - - 2011-2334:2012-1339-T g.chr11:133802469_133802470delAG uc001qgx.3 - IGSF9B_uc001qgy.1_Intron NM_014987 NP_055802 TSPAN9 10867 broad.mit.edu 37 12 3307313 3307313 + Intron DEL C - - 2011-2334:2012-1339-T g.chr12:3307313delC uc001qlp.2 + NM_006675 NP_006666 NCOR2 9612 broad.mit.edu 37 12 124953129 124953129 + Intron DEL C - - 2011-2334:2012-1339-T g.chr12:124953129delC uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 TMEM132B 114795 broad.mit.edu 37 12 125895381 125895385 + Intron DEL GAGTG - - 2011-2334:2012-1339-T g.chr12:125895381_125895385delGAGTG uc001uhe.1 + NM_052907 NP_443139 PXMP2 5827 broad.mit.edu 37 12 133269279 133269280 + Intron INS - A A 2011-2334:2012-1339-T g.chr12:133269279_133269280insA uc001ukt.2 + PGAM5_uc010tbr.1_Intron NM_018663 NP_061133 IL17D 53342 broad.mit.edu 37 13 21292810 21292813 + Intron DEL CACA - - 2011-2334:2012-1339-T g.chr13:21292810_21292813delCACA uc001unm.2 + NM_138284 NP_612141 SLC7A1 6541 broad.mit.edu 37 13 30133609 30133609 + Intron DEL G - - rs71090264 2011-2334:2012-1339-T g.chr13:30133609delG uc001uso.2 - NM_003045 NP_003036 MCF2L 23263 broad.mit.edu 37 13 113711948 113711951 + Intron DEL TGTT - - rs72314585;rs142792025 2011-2334:2012-1339-T g.chr13:113711948_113711951delTGTT uc001vsu.2 + MCF2L_uc001vsq.2_Intron|MCF2L_uc010tjr.1_Intron|MCF2L_uc001vsr.2_Intron|MCF2L_uc001vss.3_Intron|MCF2L_uc010tjs.1_Intron|MCF2L_uc001vst.1_Intron NM_001112732 NP_001106203 CUL4A 8451 broad.mit.edu 37 13 113869506 113869525 + Intron DEL TATGGAGGTCTGTGTGGGAG - - rs67096412;rs72109483 2011-2334:2012-1339-T g.chr13:113869506_113869525delTATGGAGGTCTGTGTGGGAG uc010tjy.1 + CUL4A_uc010tjx.1_Intron|CUL4A_uc001vth.2_Intron|CUL4A_uc001vtj.2_Intron NM_001008895 NP_001008895 FAM70B 348013 broad.mit.edu 37 13 114477559 114477561 + Intron DEL CAC - - 2011-2334:2012-1339-T g.chr13:114477559_114477561delCAC uc001vuh.2 + NM_182614 NP_872420 FAM70B 348013 broad.mit.edu 37 13 114498511 114498512 + Intron DEL CA - - rs72378730 2011-2334:2012-1339-T g.chr13:114498511_114498512delCA uc001vuh.2 + NM_182614 NP_872420 RASA3 22821 broad.mit.edu 37 13 114873718 114873719 + Intron DEL AT - - rs74218188 2011-2334:2012-1339-T g.chr13:114873718_114873719delAT uc001vui.2 - RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron NM_007368 NP_031394 SYNE2 23224 broad.mit.edu 37 14 64566455 64566455 + Intron DEL T - - 2011-2334:2012-1339-T g.chr14:64566455delT uc001xgm.2 + SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc010apx.1_3'UTR|SYNE2_uc010apz.1_Intron NM_015180 NP_055995 KIF26A 26153 broad.mit.edu 37 14 104631685 104631686 + Intron DEL AT - - rs149291675 2011-2334:2012-1339-T g.chr14:104631685_104631686delAT uc001yos.3 + NM_015656 NP_056471 BRF1 2972 broad.mit.edu 37 14 105680884 105680885 + Intron DEL CT - - rs34491320 2011-2334:2012-1339-T g.chr14:105680884_105680885delCT uc001yqp.2 - BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yqk.2_Intron|BRF1_uc001yql.2_Intron|BRF1_uc001yqo.2_Intron|BRF1_uc010axg.1_Intron|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_Intron NM_001519 NP_001510 RORA 6095 broad.mit.edu 37 15 60834810 60834811 + Intron INS - CA CA 2011-2334:2012-1339-T g.chr15:60834810_60834811insCA uc002agv.2 - RORA_uc002agt.3_Intron|RORA_uc002agw.2_Intron|RORA_uc002agx.2_Intron NM_134260 NP_599022 POLG 5428 broad.mit.edu 37 15 89868484 89868485 + Intron INS - GT GT 2011-2334:2012-1339-T g.chr15:89868484_89868485insGT uc002bns.3 - POLG_uc002bnr.3_Intron NM_002693 NP_002684 LMF1 64788 broad.mit.edu 37 16 908566 908567 + Intron INS - C C 2011-2334:2012-1339-T g.chr16:908566_908567insC uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 1000029 1000030 + Intron DEL CC - - 2011-2334:2012-1339-T g.chr16:1000029_1000030delCC uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 1000031 1000032 + Intron INS - G G 2011-2334:2012-1339-T g.chr16:1000031_1000032insG uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 1000752 1000753 + Intron DEL AG - - 2011-2334:2012-1339-T g.chr16:1000752_1000753delAG uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 1000816 1000817 + Intron INS - AG AG 2011-2334:2012-1339-T g.chr16:1000816_1000817insAG uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 MAPK8IP3 23162 broad.mit.edu 37 16 1788649 1788652 + Intron DEL GTGA - - 2011-2334:2012-1339-T g.chr16:1788649_1788652delGTGA uc002cmk.2 + MAPK8IP3_uc002cmi.1_Intron|MAPK8IP3_uc002cmj.1_Intron|MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Intron NM_015133 NP_055948 CMIP 80790 broad.mit.edu 37 16 81702929 81702929 + Intron DEL A - - 2011-2334:2012-1339-T g.chr16:81702929delA uc002fgp.2 + CMIP_uc002fgq.1_Intron|CMIP_uc010vnq.1_Intron|CMIP_uc002fgr.1_Intron NM_198390 NP_938204 CMIP 80790 broad.mit.edu 37 16 81702931 81702932 + Intron INS - C C 2011-2334:2012-1339-T g.chr16:81702931_81702932insC uc002fgp.2 + CMIP_uc002fgq.1_Intron|CMIP_uc010vnq.1_Intron|CMIP_uc002fgr.1_Intron NM_198390 NP_938204 CMIP 80790 broad.mit.edu 37 16 81702934 81702935 + Intron DEL AT - - 2011-2334:2012-1339-T g.chr16:81702934_81702935delAT uc002fgp.2 + CMIP_uc002fgq.1_Intron|CMIP_uc010vnq.1_Intron|CMIP_uc002fgr.1_Intron NM_198390 NP_938204 HSDL1 83693 broad.mit.edu 37 16 84158602 84158603 + Intron INS - A A rs145393542;rs11384792 by1000genomes 2011-2334:2012-1339-T g.chr16:84158602_84158603insA uc002fhk.2 - HSDL1_uc010vnv.1_Intron NM_031463 NP_113651 ANKRD11 29123 broad.mit.edu 37 16 89372532 89372533 + Intron INS - CG CG 2011-2334:2012-1339-T g.chr16:89372532_89372533insCG uc002fmx.1 - ANKRD11_uc002fmy.1_Intron|ANKRD11_uc002fnc.1_Intron|ANKRD11_uc002fnd.2_Intron|ANKRD11_uc002fne.2_Intron|ANKRD11_uc002fng.1_Intron|ANKRD11_uc002fnf.1_Intron NM_013275 NP_037407 SPG7 6687 broad.mit.edu 37 16 89602663 89602664 + Intron INS - CT CT 2011-2334:2012-1339-T g.chr16:89602663_89602664insCT uc002fnj.2 + SPG7_uc002fni.2_Intron NM_003119 NP_003110 CPNE7 27132 broad.mit.edu 37 16 89654562 89654563 + Intron INS - C C 2011-2334:2012-1339-T g.chr16:89654562_89654563insC uc002fnp.2 + CPNE7_uc002fnq.2_Intron NM_014427 NP_055242 ABR 29 broad.mit.edu 37 17 1046165 1046165 + Intron DEL A - - 2011-2334:2012-1339-T g.chr17:1046165delA uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 ABR 29 broad.mit.edu 37 17 1046168 1046169 + Intron INS - C C 2011-2334:2012-1339-T g.chr17:1046168_1046169insC uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 PITPNM3 83394 broad.mit.edu 37 17 6356321 6356322 + 3'UTR DEL TT - - rs74390995 2011-2334:2012-1339-T g.chr17:6356321_6356322delTT uc002gdd.3 - 20 PITPNM3_uc010cln.2_3'UTR|PITPNM3_uc010clm.2_3'UTR|PITPNM3_uc002gdc.3_3'UTR NM_031220 NP_112497 DNAH2 146754 broad.mit.edu 37 17 7718955 7718956 + Intron DEL CA - - 2011-2334:2012-1339-T g.chr17:7718955_7718956delCA uc002giu.1 + DNAH2_uc010cnm.1_Intron NM_020877 NP_065928 GAS7 8522 broad.mit.edu 37 17 9863149 9863150 + Intron INS - TA TA rs143303360 by1000genomes 2011-2334:2012-1339-T g.chr17:9863149_9863150insTA uc002gmg.1 - GAS7_uc010vvc.1_5'Flank|GAS7_uc002gmh.1_5'Flank|GAS7_uc010vvd.1_Intron|GAS7_uc002gmi.2_Intron|GAS7_uc002gmj.1_Intron|GAS7_uc010coh.1_Intron NM_201433 NP_958839 C17orf76 388341 broad.mit.edu 37 17 16359634 16359636 + Intron DEL AGA - - rs62076299 2011-2334:2012-1339-T g.chr17:16359634_16359636delAGA uc010cph.1 - C17orf76_uc002gqh.2_Intron|NCRNA00188_uc010vwl.1_Intron|NCRNA00188_uc010vwm.1_Intron|NCRNA00188_uc010vwn.1_Intron|NCRNA00188_uc010cpe.2_Intron|NCRNA00188_uc010vwo.1_Intron|NCRNA00188_uc010vwp.1_Intron NM_001113567 NP_001107039 CPD 1362 broad.mit.edu 37 17 28728448 28728450 + Intron DEL TCT - - 2011-2334:2012-1339-T g.chr17:28728448_28728450delTCT uc002hfb.1 + CPD_uc010wbo.1_Intron|CPD_uc010wbp.1_Intron NM_001304 NP_001295 THRA 7067 broad.mit.edu 37 17 38243498 38243499 + Intron DEL CA - - 2011-2334:2012-1339-T g.chr17:38243498_38243499delCA uc002htw.2 + THRA_uc010cwp.1_Intron|THRA_uc002htv.2_Intron|THRA_uc002htx.2_Intron NM_003250 NP_003241 KRTAP4-3 85290 broad.mit.edu 37 17 39324139 39324140 + In_Frame_Ins INS - GCAGCAGGTGGTCAG GCAGCAGGTGGTCAG rs12603046 2011-2334:2012-1339-T g.chr17:39324139_39324140insGCAGCAGGTGGTCAG uc010cxl.2 - 1 285_286 c.285_286insCTGACCACCTGCTGC c.(283-288)insCTGACCACCTGCTGC p.95_96insLTTCC NM_033187 NP_149443 C17orf67 339210 broad.mit.edu 37 17 54869877 54869879 + Intron DEL GTG - - rs111716809 2011-2334:2012-1339-T g.chr17:54869877_54869879delGTG uc010dci.2 - C17orf67_uc002iuq.2_Intron NM_001085430 NP_001078899 PRCD 768206 broad.mit.edu 37 17 74522921 74522921 + 5'Flank DEL C - - 2011-2334:2012-1339-T g.chr17:74522921delC uc002jrw.1 + RPTOR 57521 broad.mit.edu 37 17 78608293 78608294 + Intron DEL TG - - 2011-2334:2012-1339-T g.chr17:78608293_78608294delTG uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 RPTOR 57521 broad.mit.edu 37 17 78904213 78904218 + Intron DEL CTCATC - - 2011-2334:2012-1339-T g.chr17:78904213_78904218delCTCATC uc002jyt.1 + RPTOR_uc010wug.1_Intron NM_020761 NP_065812 BAIAP2 10458 broad.mit.edu 37 17 79078883 79078884 + Intron INS - C C 2011-2334:2012-1339-T g.chr17:79078883_79078884insC uc002jzg.2 + BAIAP2_uc002jyz.3_Intron|BAIAP2_uc002jza.2_Intron|BAIAP2_uc002jzc.2_Intron|BAIAP2_uc002jzb.2_Intron|BAIAP2_uc002jzd.2_Intron|BAIAP2_uc002jzf.2_Intron|BAIAP2_uc002jze.2_Intron|BAIAP2_uc010wuh.1_Intron|BAIAP2_uc002jzh.2_Intron|BAIAP2_uc010wui.1_Intron NM_017451 NP_059345 AATK 9625 broad.mit.edu 37 17 79114705 79114705 + Intron DEL G - - 2011-2334:2012-1339-T g.chr17:79114705delG uc010dia.2 - NM_001080395 NP_001073864 SLC38A10 124565 broad.mit.edu 37 17 79223284 79223286 + Intron DEL AGA - - rs111298840 2011-2334:2012-1339-T g.chr17:79223284_79223286delAGA uc002jzz.1 - SLC38A10_uc002jzy.1_Intron NM_001037984 NP_001033073 SLC38A10 124565 broad.mit.edu 37 17 79223306 79223308 + Intron DEL GGA - - 2011-2334:2012-1339-T g.chr17:79223306_79223308delGGA uc002jzz.1 - SLC38A10_uc002jzy.1_Intron NM_001037984 NP_001033073 WDR45L 56270 broad.mit.edu 37 17 80607086 80607087 + 5'Flank INS - C C rs146677536 by1000genomes 2011-2334:2012-1339-T g.chr17:80607086_80607087insC uc002kfq.2 - WDR45L_uc002kfr.2_5'Flank NM_019613 NP_062559 ST8SIA5 29906 broad.mit.edu 37 18 44337563 44337563 + 5'Flank DEL C - - rs142771383 2011-2334:2012-1339-T g.chr18:44337563delC uc002lcj.1 - ST8SIA5_uc010xcy.1_5'Flank|ST8SIA5_uc010xcz.1_5'Flank|ST8SIA5_uc010dno.1_5'Flank NM_013305 NP_037437 BCL2 596 broad.mit.edu 37 18 60865751 60865752 + Intron DEL AT - - 2011-2334:2012-1339-T g.chr18:60865751_60865752delAT uc002lit.1 - BCL2_uc002liu.1_Intron NM_000633 NP_000624 GALR1 2587 broad.mit.edu 37 18 74971193 74971195 + Intron DEL TGG - - 2011-2334:2012-1339-T g.chr18:74971193_74971195delTGG uc002lms.3 + NM_001480 NP_001471 SPPL2B 56928 broad.mit.edu 37 19 2321098 2321098 + Intron DEL C - - rs112045905 2011-2334:2012-1339-T g.chr19:2321098delC uc010dsw.1 + ZNF554 115196 broad.mit.edu 37 19 2818461 2818462 + 5'Flank INS - C C 2011-2334:2012-1339-T g.chr19:2818461_2818462insC uc002lwm.2 + ZNF554_uc002lwl.2_5'Flank NM_001102651 NP_001096121 SIN3B 23309 broad.mit.edu 37 19 16985993 16985997 + Intron DEL TGGTC - - 2011-2334:2012-1339-T g.chr19:16985993_16985997delTGGTC uc002ney.1 + SIN3B_uc002nez.1_Intron|SIN3B_uc010xpi.1_Intron|SIN3B_uc010eaj.1_5'Flank NM_015260 NP_056075 BCAM 4059 broad.mit.edu 37 19 45323171 45323187 + Intron DEL CATCCCCAACTCATCCT - - rs3842409;rs28399634;rs146786717;rs141192403 2011-2334:2012-1339-T g.chr19:45323171_45323187delCATCCCCAACTCATCCT uc002ozu.2 + BCAM_uc002ozt.1_3'UTR NM_005581 NP_005572 ZNF480 147657 broad.mit.edu 37 19 52799936 52799937 + 5'Flank INS - TTT TTT rs141668077;rs67651075 by1000genomes 2011-2334:2012-1339-T g.chr19:52799936_52799937insTTT uc010ydl.1 + ZNF480_uc002pyv.2_5'Flank|ZNF480_uc010ydm.1_5'Flank|ZNF480_uc010epn.2_5'Flank NM_144684 NP_653285 SH3YL1 26751 broad.mit.edu 37 2 235515 235516 + Intron INS - GCA GCA 2011-2334:2012-1339-T g.chr2:235515_235516insGCA uc002qvx.2 - SH3YL1_uc002qvy.2_Intron|SH3YL1_uc002qvz.2_Intron|SH3YL1_uc002qwa.2_Intron|SH3YL1_uc010ewe.2_Intron|SH3YL1_uc002qvu.2_Intron|SH3YL1_uc002qvv.2_Intron|SH3YL1_uc002qvw.2_Intron NM_015677 NP_056492 PXDN 7837 broad.mit.edu 37 2 1683594 1683595 + Intron DEL GT - - 2011-2334:2012-1339-T g.chr2:1683594_1683595delGT uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 PXDN 7837 broad.mit.edu 37 2 1714358 1714359 + Intron INS - CA CA 2011-2334:2012-1339-T g.chr2:1714358_1714359insCA uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 PXDN 7837 broad.mit.edu 37 2 1715435 1715436 + Intron DEL CT - - 2011-2334:2012-1339-T g.chr2:1715435_1715436delCT uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 RMND5A 64795 broad.mit.edu 37 2 87646079 87646079 + Intron DEL G - - 2011-2334:2012-1339-T g.chr2:87646079delG uc002srs.3 + SPAG16 79582 broad.mit.edu 37 2 214272618 214272621 + Intron DEL AGAC - - rs138394422 2011-2334:2012-1339-T g.chr2:214272618_214272621delAGAC uc002veq.2 + SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Intron|SPAG16_uc010zjk.1_Intron NM_024532 NP_078808 TNS1 7145 broad.mit.edu 37 2 218670201 218670202 + Intron INS - AG AG 2011-2334:2012-1339-T g.chr2:218670201_218670202insAG uc002vgt.2 - TNS1_uc002vgr.2_Intron|TNS1_uc002vgs.2_Intron|TNS1_uc002vgq.2_Intron NM_022648 NP_072174 TNS1 7145 broad.mit.edu 37 2 218670204 218670205 + Intron INS - TAC TAC 2011-2334:2012-1339-T g.chr2:218670204_218670205insTAC uc002vgt.2 - TNS1_uc002vgr.2_Intron|TNS1_uc002vgs.2_Intron|TNS1_uc002vgq.2_Intron NM_022648 NP_072174 TNS1 7145 broad.mit.edu 37 2 218670220 218670221 + Intron INS - T T rs149530430 by1000genomes 2011-2334:2012-1339-T g.chr2:218670220_218670221insT uc002vgt.2 - TNS1_uc002vgr.2_Intron|TNS1_uc002vgs.2_Intron|TNS1_uc002vgq.2_Intron NM_022648 NP_072174 TNS1 7145 broad.mit.edu 37 2 218670230 218670231 + Intron INS - TACG TACG 2011-2334:2012-1339-T g.chr2:218670230_218670231insTACG uc002vgt.2 - TNS1_uc002vgr.2_Intron|TNS1_uc002vgs.2_Intron|TNS1_uc002vgq.2_Intron NM_022648 NP_072174 CUL3 8452 broad.mit.edu 37 2 225449973 225449974 + 5'UTR INS - G G 2011-2334:2012-1339-T g.chr2:225449973_225449974insG uc002vny.2 - 1 CUL3_uc010zls.1_5'UTR NM_003590 NP_003581 AGAP1 116987 broad.mit.edu 37 2 236696514 236696529 + Intron DEL GAGCGTTCTAGACCAT - - rs71873895;rs58336875;rs139665255 2011-2334:2012-1339-T g.chr2:236696514_236696529delGAGCGTTCTAGACCAT uc002vvs.2 + AGAP1_uc002vvt.2_Intron NM_001037131 NP_001032208 DLGAP4 22839 broad.mit.edu 37 20 34948535 34948536 + Intron INS - GCA GCA 2011-2334:2012-1339-T g.chr20:34948535_34948536insGCA uc002xff.2 + NM_014902 NP_055717 DLGAP4 22839 broad.mit.edu 37 20 34948540 34948542 + Intron DEL TCT - - 2011-2334:2012-1339-T g.chr20:34948540_34948542delTCT uc002xff.2 + NM_014902 NP_055717 SRC 6714 broad.mit.edu 37 20 35990266 35990273 + Intron DEL GTAGAGAT - - rs72271164 2011-2334:2012-1339-T g.chr20:35990266_35990273delGTAGAGAT uc002xgx.2 + SRC_uc002xgy.2_Intron NM_005417 NP_005408 JPH2 57158 broad.mit.edu 37 20 42817151 42817152 + 5'Flank INS - AG AG rs141192855;rs150775922 by1000genomes 2011-2334:2012-1339-T g.chr20:42817151_42817152insAG uc002xli.1 - JPH2_uc002xlj.2_5'Flank NM_020433 NP_065166 CDH4 1002 broad.mit.edu 37 20 60261508 60261509 + Intron INS - GT GT rs144237468;rs66506740 by1000genomes 2011-2334:2012-1339-T g.chr20:60261508_60261509insGT uc002ybn.1 + CDH4_uc002ybo.1_Intron|CDH4_uc002ybp.1_Intron NM_001794 NP_001785 CDH4 1002 broad.mit.edu 37 20 60433233 60433234 + Intron INS - TGTC TGTC rs145658938 by1000genomes 2011-2334:2012-1339-T g.chr20:60433233_60433234insTGTC uc002ybn.1 + CDH4_uc002ybp.1_Intron NM_001794 NP_001785 OSBPL2 9885 broad.mit.edu 37 20 60845553 60845553 + Intron DEL T - - 2011-2334:2012-1339-T g.chr20:60845553delT uc002yck.1 + OSBPL2_uc002ycl.1_Intron|OSBPL2_uc011aah.1_Intron NM_144498 NP_653081 CHRNA4 1137 broad.mit.edu 37 20 61988398 61988399 + Intron INS - T T rs59061351;rs13040031 by1000genomes 2011-2334:2012-1339-T g.chr20:61988398_61988399insT uc002yes.2 - CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_Intron|CHRNA4_uc010gke.1_Intron|CHRNA4_uc002yev.1_Intron|CHRNA4_uc010gkf.1_Intron NM_000744 NP_000735 MYT1 4661 broad.mit.edu 37 20 62833302 62833303 + Intron INS - C C rs140927466;rs67048052 by1000genomes 2011-2334:2012-1339-T g.chr20:62833302_62833303insC uc002yii.2 + MYT1_uc002yih.2_Intron NM_004535 NP_004526 MYT1 4661 broad.mit.edu 37 20 62833318 62833319 + Intron INS - T T 2011-2334:2012-1339-T g.chr20:62833318_62833319insT uc002yii.2 + MYT1_uc002yih.2_Intron NM_004535 NP_004526 BAGE2 85319 broad.mit.edu 37 21 11058261 11058262 + Frame_Shift_Ins INS - T T 2011-2334:2012-1339-T g.chr21:11058261_11058262insT uc002yit.1 - 3 386_387 c.178_179insA c.(178-180)AGAfs p.R60fs BAGE_uc002yiw.1_RNA NM_182482 NP_872288 DSCAM 1826 broad.mit.edu 37 21 41559964 41559965 + Intron DEL TT - - 2011-2334:2012-1339-T g.chr21:41559964_41559965delTT uc002yyq.1 - DSCAM_uc002yyr.1_Intron NM_001389 NP_001380 DSCAM 1826 broad.mit.edu 37 21 41658774 41658775 + Intron INS - A A rs62223768;rs62223769 2011-2334:2012-1339-T g.chr21:41658774_41658775insA uc002yyq.1 - DSCAM_uc002yyr.1_Intron NM_001389 NP_001380 TRPM2 7226 broad.mit.edu 37 21 45824711 45824713 + Intron DEL TGA - - 2011-2334:2012-1339-T g.chr21:45824711_45824713delTGA uc002zet.1 + TRPM2_uc002zeu.1_Intron|TRPM2_uc002zew.1_Intron|TRPM2_uc010gpt.1_Intron|TRPM2_uc002zex.1_Intron|TRPM2_uc002zey.1_Intron NM_003307 NP_003298 RANBP1 5902 broad.mit.edu 37 22 20110334 20110335 + Intron INS - TG TG rs147764446 by1000genomes 2011-2334:2012-1339-T g.chr22:20110334_20110335insTG uc002zro.1 + RANBP1_uc011ahl.1_Intron|RANBP1_uc002zrp.2_Intron NM_002882 NP_002873 RANBP1 5902 broad.mit.edu 37 22 20110770 20110771 + Intron INS - A A rs144916982 by1000genomes 2011-2334:2012-1339-T g.chr22:20110770_20110771insA uc002zro.1 + RANBP1_uc011ahl.1_Intron|RANBP1_uc002zrp.2_Intron NM_002882 NP_002873 RGL4 266747 broad.mit.edu 37 22 24037626 24037628 + Intron DEL CTG - - rs145103735;rs71200896 2011-2334:2012-1339-T g.chr22:24037626_24037628delCTG uc002zxn.2 + LOC91316_uc002zxh.3_5'Flank|LOC91316_uc002zxi.3_5'Flank|LOC91316_uc002zxk.3_RNA|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_RNA|LOC91316_uc011aiz.1_RNA|LOC91316_uc002zxm.3_RNA|RGL4_uc002zxo.2_Intron|RGL4_uc002zxp.1_Intron|RGL4_uc002zxq.2_Intron NM_153615 NP_705843 EP300 2033 broad.mit.edu 37 22 41546329 41546335 + Intron DEL ATTTTTC - - rs116424200 by1000genomes 2011-2334:2012-1339-T g.chr22:41546329_41546335delATTTTTC uc003azl.3 + NM_001429 NP_001420 EP300 2033 broad.mit.edu 37 22 41568805 41568808 + Intron DEL AGAG - - 2011-2334:2012-1339-T g.chr22:41568805_41568808delAGAG uc003azl.3 + NM_001429 NP_001420 MPPED1 758 broad.mit.edu 37 22 43828603 43828604 + Intron DEL GA - - 2011-2334:2012-1339-T g.chr22:43828603_43828604delGA uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45197183 45197184 + Intron INS - A A rs71188487 2011-2334:2012-1339-T g.chr22:45197183_45197184insA uc003bfd.2 + PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|ARHGAP8_uc003bfi.2_Intron|ARHGAP8_uc010gzv.2_Intron|ARHGAP8_uc003bfj.2_Intron|ARHGAP8_uc003bfk.2_Intron|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron NM_181335 NP_851852 ARSA 410 broad.mit.edu 37 22 51067347 51067349 + 5'Flank DEL TGT - - rs34043300;rs34618802;rs6151403 2011-2334:2012-1339-T g.chr22:51067347_51067349delTGT uc003bnb.3 - ARSA_uc003bna.3_5'Flank|ARSA_uc003bnc.3_5'Flank|ARSA_uc003bnd.3_5'Flank|ARSA_uc003bmz.3_5'Flank|ARSA_uc010hbf.2_5'Flank NM_001085426 NP_001078895 MAP3K13 9175 broad.mit.edu 37 3 185038832 185038833 + Intron INS - CA CA rs138406100;rs145843862 by1000genomes 2011-2334:2012-1339-T g.chr3:185038832_185038833insCA uc010hyf.2 + MAP3K13_uc011brt.1_Intron NM_004721 NP_004712 TP63 8626 broad.mit.edu 37 3 189348969 189348973 + 5'Flank DEL CTCCA - - rs76937731 2011-2334:2012-1339-T g.chr3:189348969_189348973delCTCCA uc003fry.2 + TP63_uc003frx.2_5'Flank|TP63_uc003frz.2_5'Flank|TP63_uc010hzc.1_5'Flank NM_003722 NP_003713 TNK2 10188 broad.mit.edu 37 3 195597903 195597903 + Intron DEL G - - rs66630297 2011-2334:2012-1339-T g.chr3:195597903delG uc003fvu.1 - TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Intron|TNK2_uc003fvs.1_Intron|TNK2_uc003fvt.1_Intron|TNK2_uc010hzw.1_Intron|TNK2_uc003fvv.1_Intron NM_005781 NP_005772 TNK2 10188 broad.mit.edu 37 3 195597917 195597918 + Intron INS - G G 2011-2334:2012-1339-T g.chr3:195597917_195597918insG uc003fvu.1 - TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Intron|TNK2_uc003fvs.1_Intron|TNK2_uc003fvt.1_Intron|TNK2_uc010hzw.1_Intron|TNK2_uc003fvv.1_Intron NM_005781 NP_005772 KIAA1530 57654 broad.mit.edu 37 4 1366581 1366582 + Intron INS - AG AG rs5015163;rs78190252 2011-2334:2012-1339-T g.chr4:1366581_1366582insAG uc003gde.3 + KIAA1530_uc010ibv.2_Intron NM_020894 NP_065945 KIAA1530 57654 broad.mit.edu 37 4 1366648 1366649 + Intron INS - AG AG rs5015165;rs34115496 2011-2334:2012-1339-T g.chr4:1366648_1366649insAG uc003gde.3 + KIAA1530_uc010ibv.2_Intron NM_020894 NP_065945 FAM53A 152877 broad.mit.edu 37 4 1653956 1653957 + Intron INS - AC AC rs142090008 2011-2334:2012-1339-T g.chr4:1653956_1653957insAC uc011bve.1 - FAM53A_uc010ibw.2_Intron NM_001013622 NP_001013644 FAM53A 152877 broad.mit.edu 37 4 1654822 1654823 + Intron DEL CA - - 2011-2334:2012-1339-T g.chr4:1654822_1654823delCA uc011bve.1 - FAM53A_uc010ibw.2_Intron NM_001013622 NP_001013644 RGS12 6002 broad.mit.edu 37 4 3364206 3364209 + Intron DEL TGTA - - 2011-2334:2012-1339-T g.chr4:3364206_3364209delTGTA uc003ggw.2 + RGS12_uc003ggu.2_Intron|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Intron|RGS12_uc003ggv.2_Intron|RGS12_uc003ggy.1_Intron NM_198229 NP_937872 SH3TC1 54436 broad.mit.edu 37 4 8241032 8241037 + Intron DEL ACACAG - - rs10532430 2011-2334:2012-1339-T g.chr4:8241032_8241037delACACAG uc003gkv.3 + SH3TC1_uc003gkw.3_Intron|SH3TC1_uc003gkx.3_Intron|SH3TC1_uc003gky.2_Intron NM_018986 NP_061859 PDCD6 10016 broad.mit.edu 37 5 299083 299083 + Intron DEL C - - 2011-2334:2012-1339-T g.chr5:299083delC uc003jat.1 + PDCD6_uc003jau.1_Intron NM_013232 NP_037364 CEP72 55722 broad.mit.edu 37 5 648910 648911 + Intron DEL TG - - 2011-2334:2012-1339-T g.chr5:648910_648911delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650057 650058 + Intron DEL TG - - 2011-2334:2012-1339-T g.chr5:650057_650058delTG uc003jbf.2 + NM_018140 NP_060610 SLC6A3 6531 broad.mit.edu 37 5 1422562 1422563 + Intron DEL CA - - 2011-2334:2012-1339-T g.chr5:1422562_1422563delCA uc003jck.2 - NM_001044 NP_001035 SLC6A3 6531 broad.mit.edu 37 5 1422676 1422677 + Intron DEL CA - - rs67718451 2011-2334:2012-1339-T g.chr5:1422676_1422677delCA uc003jck.2 - NM_001044 NP_001035 DNAH5 1767 broad.mit.edu 37 5 13885412 13885415 + Intron DEL AGAT - - 2011-2334:2012-1339-T g.chr5:13885412_13885415delAGAT uc003jfd.2 - NM_001369 NP_001360 CDH12 1010 broad.mit.edu 37 5 22212770 22212782 + Translation_Start_Site DEL TCAGCTGAAATCC - - 2011-2334:2012-1339-T g.chr5:22212770_22212782delTCAGCTGAAATCC uc010iuc.2 - 1 97_109 c.-361_-349delGGATTTCAGCTGA c.(-363--347)GAGGATTTCAGCTGATG>GATG CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Intron NM_004061 NP_004052 PIK3R1 5295 broad.mit.edu 37 5 67513448 67513449 + Intron INS - TG TG rs141591947;rs71676380 by1000genomes 2011-2334:2012-1339-T g.chr5:67513448_67513449insTG uc003jva.2 + NM_181523 NP_852664 PIK3R1 5295 broad.mit.edu 37 5 67590798 67590802 + Intron DEL AAAAT - - 2011-2334:2012-1339-T g.chr5:67590798_67590802delAAAAT uc003jva.2 + PIK3R1_uc003jvb.2_Intron|PIK3R1_uc003jvc.2_Intron|PIK3R1_uc003jvd.2_Intron|PIK3R1_uc003jve.2_Intron|PIK3R1_uc011crb.1_Intron NM_181523 NP_852664 RASA1 5921 broad.mit.edu 37 5 86563775 86563776 + 5'Flank INS - A A rs146732096;rs3840522 by1000genomes 2011-2334:2012-1339-T g.chr5:86563775_86563776insA uc003kiw.2 + RASA1_uc010jav.2_5'Flank|RASA1_uc003kix.2_5'Flank|RASA1_uc011ctv.1_5'Flank|RASA1_uc011ctw.1_5'Flank|RASA1_uc010jaw.2_5'Flank|RASA1_uc011ctu.1_5'Flank NM_002890 NP_002881 HMP19 51617 broad.mit.edu 37 5 173524561 173524562 + Intron DEL TG - - 2011-2334:2012-1339-T g.chr5:173524561_173524562delTG uc003mcx.2 + HMP19_uc011dfh.1_Intron NM_015980 NP_057064 HMP19 51617 broad.mit.edu 37 5 173524585 173524586 + Intron DEL TG - - 2011-2334:2012-1339-T g.chr5:173524585_173524586delTG uc003mcx.2 + HMP19_uc011dfh.1_Intron NM_015980 NP_057064 NKAPL 222698 broad.mit.edu 37 6 28227701 28227701 + Frame_Shift_Del DEL A - - 2011-2334:2012-1339-T g.chr6:28227701delA uc003nkt.2 + 1 604 c.552delA c.(550-552)AGAfs p.R184fs ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 HLA-F 3134 broad.mit.edu 37 6 29692430 29692441 + Intron DEL AATTTCTGAGGG - - rs1632952;rs72366349;rs41554217;rs41556013;rs41556914;rs41555914;rs41563314;rs41550116;rs41558818 2011-2334:2012-1339-T g.chr6:29692430_29692441delAATTTCTGAGGG uc010jrl.2 + HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Intron|HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron NM_018950 NP_061823 HLA-G 3135 broad.mit.edu 37 6 29893621 29893626 + Intron DEL AAAAAC - - rs142745021;rs67081368;rs28725110;rs140158039 by1000genomes 2011-2334:2012-1339-T g.chr6:29893621_29893626delAAAAAC uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HCG4P6_uc003noh.1_5'Flank|uc003noi.2_5'Flank NM_002127 NP_002118 HLA-A 3105 broad.mit.edu 37 6 29911583 29911584 + Intron INS - ACAC ACAC rs139109856;rs72558103 by1000genomes 2011-2334:2012-1339-T g.chr6:29911583_29911584insACAC uc003nol.2 + HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Intron|HLA-A_uc003nok.2_Intron|HLA-A_uc003non.2_Intron|HLA-A_uc003noo.2_Intron|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_Intron|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_Intron|HLA-A_uc011dmd.1_Intron NM_002116 NP_002107 MDGA1 266727 broad.mit.edu 37 6 37611903 37611903 + Intron DEL C - - 2011-2334:2012-1339-T g.chr6:37611903delC uc003onu.1 - MDGA1_uc003onv.1_Intron NM_153487 NP_705691 PARK2 5071 broad.mit.edu 37 6 162365017 162365018 + Intron INS - T T rs112653486;rs140187520 by1000genomes 2011-2334:2012-1339-T g.chr6:162365017_162365018insT uc003qtx.3 - PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Intron|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Intron NM_004562 NP_004553 PARK2 5071 broad.mit.edu 37 6 162851190 162851191 + Intron INS - GAC GAC rs145121165;rs144836117 by1000genomes 2011-2334:2012-1339-T g.chr6:162851190_162851191insGAC uc003qtx.3 - PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Intron|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Intron NM_004562 NP_004553 C6orf118 168090 broad.mit.edu 37 6 165714891 165714892 + Intron DEL AG - - rs5881644 2011-2334:2012-1339-T g.chr6:165714891_165714892delAG uc003qum.3 - C6orf118_uc011egi.1_Intron NM_144980 NP_659417 RPS6KA2 6196 broad.mit.edu 37 6 167238204 167238207 + Intron DEL TGTG - - rs138945096 2011-2334:2012-1339-T g.chr6:167238204_167238207delTGTG uc003qvd.1 - RPS6KA2_uc003qvc.1_Intron NM_021135 NP_066958 SMOC2 64094 broad.mit.edu 37 6 168999797 168999800 + Intron DEL CACT - - rs145910492;rs79115216 2011-2334:2012-1339-T g.chr6:168999797_168999800delCACT uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 THBS2 7058 broad.mit.edu 37 6 169636439 169636439 + Intron DEL C - - 2011-2334:2012-1339-T g.chr6:169636439delC uc003qwt.2 - NM_003247 NP_003238 PRKAR1B 5575 broad.mit.edu 37 7 628166 628168 + Intron DEL CGG - - rs143311672 2011-2334:2012-1339-T g.chr7:628166_628168delCGG uc003siu.1 - PRKAR1B_uc003siv.2_Intron|PRKAR1B_uc003siw.1_Intron|PRKAR1B_uc003six.1_Intron NM_002735 NP_002726 C7orf50 84310 broad.mit.edu 37 7 1055674 1055675 + Intron INS - T T rs139561850;rs67072108 by1000genomes 2011-2334:2012-1339-T g.chr7:1055674_1055675insT uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 DTX2 113878 broad.mit.edu 37 7 76116201 76116202 + Intron INS - TTT TTT rs2539644 by1000genomes 2011-2334:2012-1339-T g.chr7:76116201_76116202insTTT uc003uff.3 + DTX2_uc011kgk.1_Intron|DTX2_uc003ufg.3_Intron|DTX2_uc003ufh.3_Intron|DTX2_uc003ufj.3_Intron NM_020892 NP_065943 KIAA1549 57670 broad.mit.edu 37 7 138555817 138555817 + Intron DEL C - - rs35334186 2011-2334:2012-1339-T g.chr7:138555817delC uc011kql.1 - KIAA1549_uc011kqi.1_Intron|KIAA1549_uc003vuk.3_Intron|KIAA1549_uc011kqj.1_Intron|KIAA1549_uc011kqk.1_Intron NM_020910 NP_065961 TBXAS1 6916 broad.mit.edu 37 7 139709845 139709847 + Intron DEL CAC - - 2011-2334:2012-1339-T g.chr7:139709845_139709847delCAC uc011kqv.1 + TBXAS1_uc003vvh.2_Intron|TBXAS1_uc010lne.2_Intron|TBXAS1_uc011kqu.1_Intron|TBXAS1_uc003vvi.2_Intron|TBXAS1_uc003vvj.2_Intron|TBXAS1_uc011kqw.1_Intron NM_001130966 NP_001124438 SSPO 23145 broad.mit.edu 37 7 149520153 149520153 + Intron DEL A - - rs67616784 2011-2334:2012-1339-T g.chr7:149520153delA uc010lpk.2 + SSPO_uc010lpm.1_Intron|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Intron|SSPO_uc003wgi.1_Intron NM_198455 NP_940857 PTPRN2 5799 broad.mit.edu 37 7 157863283 157863284 + Intron INS - CT CT 2011-2334:2012-1339-T g.chr7:157863283_157863284insCT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc003wnt.1_5'Flank NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158234604 158234606 + Intron DEL TGA - - 2011-2334:2012-1339-T g.chr7:158234604_158234606delTGA uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158317053 158317055 + Intron DEL TCA - - rs10551720;rs113684811 by1000genomes 2011-2334:2012-1339-T g.chr7:158317053_158317055delTCA uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ERICH1 157697 broad.mit.edu 37 8 625293 625293 + Intron DEL G - - 2011-2334:2012-1339-T g.chr8:625293delG uc003wph.2 - ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron|ERICH1_uc003wpi.2_5'Flank NM_207332 NP_997215 ARHGEF10 9639 broad.mit.edu 37 8 1780880 1780881 + Intron DEL AG - - 2011-2334:2012-1339-T g.chr8:1780880_1780881delAG uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 STC1 6781 broad.mit.edu 37 8 23712263 23712264 + 5'UTR INS - GCT GCT 2011-2334:2012-1339-T g.chr8:23712263_23712264insGCT uc003xdw.1 - 1 NM_003155 NP_003146 PKHD1L1 93035 broad.mit.edu 37 8 110473965 110473966 + Intron INS - T T rs144083788;rs140313571 by1000genomes;by1000genomes 2011-2334:2012-1339-T g.chr8:110473965_110473966insT uc003yne.2 + NM_177531 NP_803875 ZFAT 57623 broad.mit.edu 37 8 135603038 135603040 + Intron DEL CAC - - rs34831588;rs143589930 2011-2334:2012-1339-T g.chr8:135603038_135603040delCAC uc003yup.2 - ZFAT_uc003yun.2_Intron|ZFAT_uc003yuo.2_Intron|ZFAT_uc010meh.2_Intron|ZFAT_uc010mei.2_Intron|ZFAT_uc003yuq.2_Intron|ZFAT_uc010mej.2_Intron NM_020863 NP_065914 TRAPPC9 83696 broad.mit.edu 37 8 141167351 141167351 + Intron DEL T - - rs67328557 2011-2334:2012-1339-T g.chr8:141167351delT uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 TRAPPC9 83696 broad.mit.edu 37 8 141282112 141282113 + Intron INS - AG AG rs150940391 by1000genomes 2011-2334:2012-1339-T g.chr8:141282112_141282113insAG uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 ZNF16 7564 broad.mit.edu 37 8 146172390 146172391 + Intron DEL CT - - rs66905525 2011-2334:2012-1339-T g.chr8:146172390_146172391delCT uc003zet.2 - ZNF16_uc003zeu.2_Intron NM_001029976 NP_001025147 NUP214 8021 broad.mit.edu 37 9 134000768 134000768 + 5'Flank DEL T - - rs3215836 2011-2334:2012-1339-T g.chr9:134000768delT uc004cag.2 + NUP214_uc004cah.2_5'Flank|NUP214_uc004caf.1_5'Flank NM_005085 NP_005076 POMT1 10585 broad.mit.edu 37 9 134377983 134377987 + 5'Flank DEL AAAAA - - rs10577629 2011-2334:2012-1339-T g.chr9:134377983_134377987delAAAAA uc004cav.2 + uc004cas.1_5'Flank|POMT1_uc011mci.1_5'Flank|POMT1_uc004cax.2_5'Flank|POMT1_uc011mcj.1_5'Flank|POMT1_uc004cau.2_5'Flank|POMT1_uc004caw.2_5'Flank|POMT1_uc011mck.1_5'Flank|POMT1_uc011mcl.1_5'Flank|POMT1_uc011mcm.1_5'Flank NM_007171 NP_009102 COL5A1 1289 broad.mit.edu 37 9 137718565 137718566 + Intron INS - TGTA TGTA rs148921347;rs67214932 by1000genomes 2011-2334:2012-1339-T g.chr9:137718565_137718566insTGTA uc004cfe.2 + uc004cff.2_Intron NM_000093 NP_000084 EXD3 54932 broad.mit.edu 37 9 140276527 140276527 + Intron DEL C - - 2011-2334:2012-1339-T g.chr9:140276527delC uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncg.1_Intron|EXD3_uc004cmr.2_Intron|EXD3_uc004cms.2_Intron NM_017820 NP_060290 PNPLA7 375775 broad.mit.edu 37 9 140398439 140398441 + Intron DEL AAG - - 2011-2334:2012-1339-T g.chr9:140398439_140398441delAAG uc004cnf.2 - C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Intron NM_152286 NP_689499 SHOX 6473 broad.mit.edu 37 X 583531 583531 + 5'Flank DEL G - - 2011-2334:2012-1339-T g.chrX:583531delG uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 SHOX 6473 broad.mit.edu 37 X 583534 583535 + 5'Flank INS - C C 2011-2334:2012-1339-T g.chrX:583534_583535insC uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 SHOX 6473 broad.mit.edu 37 X 583647 583648 + 5'Flank DEL AG - - 2011-2334:2012-1339-T g.chrX:583647_583648delAG uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 PIR 8544 broad.mit.edu 37 X 15452129 15452130 + Intron INS - C C 2011-2334:2012-1339-T g.chrX:15452129_15452130insC uc004cwu.2 - PIR_uc004cwv.2_Intron NM_003662 NP_003653 AGRN 375790 broad.mit.edu 37 1 966089 966090 + Intron DEL TG - - 2011-2335:2012-1340-T g.chr1:966089_966090delTG uc001ack.1 + NM_198576 NP_940978 CAMTA1 23261 broad.mit.edu 37 1 7715242 7715247 + Intron DEL ACACAA - - rs138741523 by1000genomes 2011-2335:2012-1340-T g.chr1:7715242_7715247delACACAA uc001aoi.2 + NM_015215 NP_056030 PDZK1IP1 10158 broad.mit.edu 37 1 47650219 47650219 + Intron DEL C - - 2011-2335:2012-1340-T g.chr1:47650219delC uc001cqw.2 - NM_005764 NP_005755 USH2A 7399 broad.mit.edu 37 1 216390838 216390839 + Frame_Shift_Ins INS - A A 2011-2335:2012-1340-T g.chr1:216390838_216390839insA uc001hku.1 - 15 3434_3435 c.3047_3048insT c.(3046-3048)TTGfs p.L1016fs USH2A_uc001hkv.2_Frame_Shift_Ins_p.L1016fs NM_206933 NP_996816 ANXA8 653145 broad.mit.edu 37 10 47058983 47058984 + Intron DEL AC - - 2011-2335:2012-1340-T g.chr10:47058983_47058984delAC uc001jed.3 - IGF2 3481 broad.mit.edu 37 11 2152798 2152799 + 3'UTR DEL TG - - rs146454663 2011-2335:2012-1340-T g.chr11:2152798_2152799delTG uc009yde.2 - 4 IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_3'UTR|IGF2_uc009ydf.2_3'UTR|IGF2_uc001lvh.2_3'UTR|INS-IGF2_uc001lvi.2_RNA NM_001007139 NP_001007140 CD81 975 broad.mit.edu 37 11 2406870 2406880 + Intron DEL TGCACCCGTGC - - rs79899024 2011-2335:2012-1340-T g.chr11:2406870_2406880delTGCACCCGTGC uc001lwf.1 + CD81_uc001lwg.1_5'Flank NM_004356 NP_004347 MSLNL 401827 broad.mit.edu 37 16 830786 830787 + Frame_Shift_Ins INS - A A 2011-2335:2012-1340-T g.chr16:830786_830787insA uc002cjz.1 - 3 214_215 c.214_215insT c.(214-216)CGTfs p.R72fs NM_001025190 NP_001020361 PIP5K1C 23396 broad.mit.edu 37 19 3647249 3647252 + Intron DEL GAGG - - 2011-2335:2012-1340-T g.chr19:3647249_3647252delGAGG uc002lyj.1 - PIP5K1C_uc010xhq.1_Intron|PIP5K1C_uc010xhr.1_Intron NM_012398 NP_036530 FCER2 2208 broad.mit.edu 37 19 7753822 7753822 + 3'UTR DEL T - - 2011-2335:2012-1340-T g.chr19:7753822delT uc002mhn.2 - 11 FCER2_uc010xjs.1_3'UTR|FCER2_uc010xjt.1_3'UTR|FCER2_uc002mhm.2_3'UTR NM_002002 NP_001993 APOB 338 broad.mit.edu 37 2 21228306 21228307 + Frame_Shift_Ins INS - A A 2011-2335:2012-1340-T g.chr2:21228306_21228307insA uc002red.2 - 26 11561_11562 c.11433_11434insT c.(11431-11436)TTTGAGfs p.F3811fs NM_000384 NP_000375 MAP2 4133 broad.mit.edu 37 2 210596051 210596052 + 3'UTR INS - A A 2011-2335:2012-1340-T g.chr2:210596051_210596052insA uc002vde.1 + 15 MAP2_uc002vdd.1_3'UTR|MAP2_uc002vdf.1_3'UTR|MAP2_uc002vdg.1_3'UTR|MAP2_uc002vdh.1_3'UTR|MAP2_uc002vdi.1_3'UTR NM_002374 NP_002365 SPAG16 79582 broad.mit.edu 37 2 214272530 214272531 + Intron DEL AG - - 2011-2335:2012-1340-T g.chr2:214272530_214272531delAG uc002veq.2 + SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Intron|SPAG16_uc010zjk.1_Intron NM_024532 NP_078808 TOM1 10043 broad.mit.edu 37 22 35739287 35739288 + Intron INS - AC AC rs142063849 2011-2335:2012-1340-T g.chr22:35739287_35739288insAC uc003ann.2 + TOM1_uc011ami.1_Intron|TOM1_uc011amj.1_Intron|TOM1_uc003ans.2_Intron|TOM1_uc011amk.1_Intron|TOM1_uc003anp.2_Intron|TOM1_uc011aml.1_Intron|TOM1_uc003ano.2_Intron|TOM1_uc003anq.2_Intron|TOM1_uc003anr.2_Intron NM_005488 NP_005479 MPPED1 758 broad.mit.edu 37 22 43828763 43828764 + Intron INS - G G 2011-2335:2012-1340-T g.chr22:43828763_43828764insG uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 MPPED1 758 broad.mit.edu 37 22 43828766 43828767 + Intron INS - G G 2011-2335:2012-1340-T g.chr22:43828766_43828767insG uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 TBC1D22A 25771 broad.mit.edu 37 22 47554663 47554664 + Intron DEL AC - - 2011-2335:2012-1340-T g.chr22:47554663_47554664delAC uc003bib.2 + TBC1D22A_uc010haf.2_Intron|TBC1D22A_uc003bic.2_Intron|TBC1D22A_uc003bie.2_Intron|TBC1D22A_uc003bid.2_Intron|TBC1D22A_uc010hag.2_Intron|TBC1D22A_uc003bif.2_Intron NM_014346 NP_055161 NSD1 64324 broad.mit.edu 37 5 176720839 176720839 + Frame_Shift_Del DEL G - - 2011-2335:2012-1340-T g.chr5:176720839delG uc003mfr.3 + 23 6608 c.6470delG c.(6469-6471)TGGfs p.W2157fs NSD1_uc003mft.3_Frame_Shift_Del_p.W1888fs|NSD1_uc011dfx.1_Frame_Shift_Del_p.W1805fs NM_022455 NP_071900 ADAP1 11033 broad.mit.edu 37 7 945218 945218 + Intron DEL A - - 2011-2335:2012-1340-T g.chr7:945218delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945340 945340 + Intron DEL A - - 2011-2335:2012-1340-T g.chr7:945340delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 RDH10 157506 broad.mit.edu 37 8 74227362 74227363 + Intron DEL TC - - 2011-2335:2012-1340-T g.chr8:74227362_74227363delTC uc003xzi.2 + RDH10_uc003xzj.2_Intron|uc003xzk.1_Intron NM_172037 NP_742034 BAI1 575 broad.mit.edu 37 8 143601396 143601398 + Intron DEL TGG - - 2011-2335:2012-1340-T g.chr8:143601396_143601398delTGG uc003ywm.2 + NM_001702 NP_001693 TTF1 7270 broad.mit.edu 37 9 135253358 135253359 + Intron DEL GA - - 2011-2335:2012-1340-T g.chr9:135253358_135253359delGA uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 OLFM1 10439 broad.mit.edu 37 9 137983625 137983626 + Intron INS - GT GT rs138386408 by1000genomes 2011-2335:2012-1340-T g.chr9:137983625_137983626insGT uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfk.3_Intron|OLFM1_uc004cfm.3_Intron NM_014279 NP_055094 SHOX 6473 broad.mit.edu 37 X 603969 603969 + Intron DEL G - - 2011-2335:2012-1340-T g.chrX:603969delG uc004cph.1 + SHOX_uc004cpi.2_Intron NM_000451 NP_000442 DHRSX 207063 broad.mit.edu 37 X 2195431 2195432 + Intron INS - GA GA 2011-2335:2012-1340-T g.chrX:2195431_2195432insGA uc004cqf.3 - NM_145177 NP_660160 PLCH2 9651 broad.mit.edu 37 1 2415380 2415381 + Intron INS - G G 2011-2336:2012-335-T g.chr1:2415380_2415381insG uc001aji.1 + PLCH2_uc010nyz.1_Intron|PLCH2_uc009vle.1_Intron|PLCH2_uc001ajj.1_Intron|PLCH2_uc001ajk.1_Intron NM_014638 NP_055453 FGFR2 2263 broad.mit.edu 37 10 123310734 123310734 + Intron DEL A - - 2011-2336:2012-335-T g.chr10:123310734delA uc010qtk.1 - FGFR2_uc010qtg.1_Intron|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Intron|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_Intron|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfn.3_Intron|FGFR2_uc010qtn.1_Intron|FGFR2_uc010qto.1_Intron|FGFR2_uc001lfo.1_Intron|FGFR2_uc010qtp.1_Intron|FGFR2_uc010qtq.1_Intron NM_000141 NP_000132 MLL2 8085 broad.mit.edu 37 12 49422833 49422846 + Splice_Site DEL GTAGCACATACCTG - - rs145782155 by1000genomes 2011-2336:2012-335-T g.chr12:49422833_49422846delGTAGCACATACCTG uc001rta.3 - 44 14251 c.14251_splice c.e44+1 p.V4751_splice NM_003482 NP_003473 RILPL1 353116 broad.mit.edu 37 12 123996621 123996624 + Intron DEL TGTG - - 2011-2336:2012-335-T g.chr12:123996621_123996624delTGTG uc001ufe.2 - RILPL1_uc001ufd.2_Intron|RILPL1_uc010tas.1_Intron NM_178314 NP_847884 SYNE2 23224 broad.mit.edu 37 14 64490420 64490424 + Intron DEL TTACT - - 2011-2336:2012-335-T g.chr14:64490420_64490424delTTACT uc001xgm.2 + SYNE2_uc001xgl.2_Intron NM_015180 NP_055995 FOXN3 1112 broad.mit.edu 37 14 89827692 89827693 + Intron INS - CAC CAC 2011-2336:2012-335-T g.chr14:89827692_89827693insCAC uc001xxo.3 - FOXN3_uc001xxn.3_Intron|FOXN3_uc010atk.2_Intron NM_001085471 NP_001078940 THSD4 79875 broad.mit.edu 37 15 71492142 71492143 + Intron DEL TG - - 2011-2336:2012-335-T g.chr15:71492142_71492143delTG uc002atb.1 + NM_024817 NP_079093 RASGRF1 5923 broad.mit.edu 37 15 79384671 79384672 + 5'Flank INS - CA CA 2011-2336:2012-335-T g.chr15:79384671_79384672insCA uc002beq.2 - RASGRF1_uc002bep.2_5'Flank|RASGRF1_uc002ber.3_5'Flank NM_002891 NP_002882 DPEP1 1800 broad.mit.edu 37 16 89701544 89701545 + Intron INS - C C 2011-2336:2012-335-T g.chr16:89701544_89701545insC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 CSNK1D 1453 broad.mit.edu 37 17 80212191 80212192 + Intron INS - G G rs35943870 2011-2336:2012-335-T g.chr17:80212191_80212192insG uc002kej.2 - SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Intron|CSNK1D_uc002kei.2_Intron|CSNK1D_uc010wvj.1_Intron|CSNK1D_uc010dil.2_5'Flank|CSNK1D_uc002keh.2_5'UTR|CSNK1D_uc010dim.1_5'Flank NM_001893 NP_001884 CSNK1D 1453 broad.mit.edu 37 17 80212193 80212194 + Intron INS - GTGC GTGC 2011-2336:2012-335-T g.chr17:80212193_80212194insGTGC uc002kej.2 - SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Intron|CSNK1D_uc002kei.2_Intron|CSNK1D_uc010wvj.1_Intron|CSNK1D_uc010dil.2_5'Flank|CSNK1D_uc002keh.2_5'UTR|CSNK1D_uc010dim.1_5'Flank NM_001893 NP_001884 MC2R 4158 broad.mit.edu 37 18 13887386 13887387 + Intron DEL AA - - 2011-2336:2012-335-T g.chr18:13887386_13887387delAA uc002ksp.1 - NM_000529 NP_000520 HDGFRP2 84717 broad.mit.edu 37 19 4492888 4492889 + Intron INS - TG TG 2011-2336:2012-335-T g.chr19:4492888_4492889insTG uc002mao.2 + HDGFRP2_uc002map.2_Intron|HDGFRP2_uc010dtz.1_Intron NM_001001520 NP_001001520 TNS1 7145 broad.mit.edu 37 2 218670184 218670186 + Intron DEL CAC - - 2011-2336:2012-335-T g.chr2:218670184_218670186delCAC uc002vgt.2 - TNS1_uc002vgr.2_Intron|TNS1_uc002vgs.2_Intron|TNS1_uc002vgq.2_Intron NM_022648 NP_072174 C20orf26 26074 broad.mit.edu 37 20 20337194 20337195 + Intron INS - TG TG 2011-2336:2012-335-T g.chr20:20337194_20337195insTG uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 BAGE2 85319 broad.mit.edu 37 21 11057307 11057308 + Intron INS - AA AA rs79091593;rs143364304 2011-2336:2012-335-T g.chr21:11057307_11057308insAA uc002yit.1 - NM_182482 NP_872288 RUNX1 861 broad.mit.edu 37 21 36421413 36421413 + 5'UTR DEL A - - 2011-2336:2012-335-T g.chr21:36421413delA uc010gmu.2 - 1 RUNX1_uc002yut.1_Intron|RUNX1_uc010gmv.2_Intron|RUNX1_uc002yuj.3_Intron|RUNX1_uc002yuk.3_5'UTR|RUNX1_uc002yum.1_5'Flank|RUNX1_uc010gmw.1_Intron NM_001754 NP_001745 TMPRSS6 164656 broad.mit.edu 37 22 37494078 37494079 + Intron INS - G G 2011-2336:2012-335-T g.chr22:37494078_37494079insG uc003aqs.1 - TMPRSS6_uc003aqt.1_Intron|TMPRSS6_uc003aqu.2_Intron NM_153609 NP_705837 PIK3CA 5290 broad.mit.edu 37 3 178865774 178865775 + 5'Flank INS - C C rs144390116;rs67786336 by1000genomes 2011-2336:2012-335-T g.chr3:178865774_178865775insC uc003fjk.2 + uc003fjj.2_5'Flank NM_006218 NP_006209 TNK2 10188 broad.mit.edu 37 3 195597917 195597918 + Intron INS - G G 2011-2336:2012-335-T g.chr3:195597917_195597918insG uc003fvu.1 - TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Intron|TNK2_uc003fvs.1_Intron|TNK2_uc003fvt.1_Intron|TNK2_uc010hzw.1_Intron|TNK2_uc003fvv.1_Intron NM_005781 NP_005772 RASA1 5921 broad.mit.edu 37 5 86626760 86626761 + Intron INS - T T 2011-2336:2012-335-T g.chr5:86626760_86626761insT uc003kiw.2 + RASA1_uc010jav.2_Intron|RASA1_uc003kix.2_Intron|RASA1_uc011ctv.1_Intron|RASA1_uc011ctw.1_Frame_Shift_Ins_p.M1fs|RASA1_uc010jaw.2_Intron|RASA1_uc011ctu.1_Intron NM_002890 NP_002881 RASA1 5921 broad.mit.edu 37 5 86668106 86668107 + Intron INS - A A 2011-2336:2012-335-T g.chr5:86668106_86668107insA uc003kiw.2 + RASA1_uc010jav.2_Intron|RASA1_uc003kix.2_Intron|RASA1_uc011ctv.1_Intron|RASA1_uc011ctw.1_Intron|RASA1_uc010jaw.2_Intron NM_002890 NP_002881 ZFAND2A 90637 broad.mit.edu 37 7 1199203 1199203 + Intron DEL G - - 2011-2336:2012-335-T g.chr7:1199203delG uc003skc.2 - ZFAND2A_uc003skd.3_Intron|uc003skf.1_5'Flank NM_182491 NP_872297 DPP6 1804 broad.mit.edu 37 7 154675741 154675742 + Intron DEL CA - - 2011-2336:2012-335-T g.chr7:154675741_154675742delCA uc003wlk.2 + DPP6_uc003wli.2_Intron|DPP6_uc003wlm.2_Intron|DPP6_uc011kvq.1_Intron NM_130797 NP_570629 PTPRN2 5799 broad.mit.edu 37 7 157918831 157918832 + Intron INS - C C 2011-2336:2012-335-T g.chr7:157918831_157918832insC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 CDKN2A 1029 broad.mit.edu 37 9 21971167 21971168 + Frame_Shift_Ins INS - GCGC GCGC 2011-2336:2012-335-T g.chr9:21971167_21971168insGCGC uc003zpk.2 - 2 402_403 c.190_191insGCGC c.(190-192)CTGfs p.L64fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Ins_p.A119fs NM_000077 NP_000068 FANCG 2189 broad.mit.edu 37 9 35079973 35079974 + 5'UTR INS - A A rs144711167 by1000genomes 2011-2336:2012-335-T g.chr9:35079973_35079974insA uc003zwb.1 - 1 FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_5'Flank NM_004629 NP_004620 FAM125B 89853 broad.mit.edu 37 9 129246803 129246805 + Intron DEL CTT - - rs35528692;rs35371157 2011-2336:2012-335-T g.chr9:129246803_129246805delCTT uc004bqh.1 + FAM125B_uc011lzy.1_Intron|FAM125B_uc010mxd.2_Intron NM_033446 NP_258257 MED27 9442 broad.mit.edu 37 9 134839673 134839674 + Intron INS - TGA TGA 2011-2336:2012-335-T g.chr9:134839673_134839674insTGA uc004cbe.1 - MED27_uc004cbf.1_Intron|MED27_uc011mco.1_Intron|MED27_uc004cbg.3_Intron NM_004269 NP_004260 MED27 9442 broad.mit.edu 37 9 134839680 134839681 + Intron DEL AT - - rs146534053 by1000genomes 2011-2336:2012-335-T g.chr9:134839680_134839681delAT uc004cbe.1 - MED27_uc004cbf.1_Intron|MED27_uc011mco.1_Intron|MED27_uc004cbg.3_Intron NM_004269 NP_004260 OLFM1 10439 broad.mit.edu 37 9 137983571 137983572 + Intron INS - CA CA rs71895413 2011-2336:2012-335-T g.chr9:137983571_137983572insCA uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfk.3_Intron|OLFM1_uc004cfm.3_Intron NM_014279 NP_055094 OLFM1 10439 broad.mit.edu 37 9 137983586 137983587 + Intron DEL CC - - rs72122511 2011-2336:2012-335-T g.chr9:137983586_137983587delCC uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfk.3_Intron|OLFM1_uc004cfm.3_Intron NM_014279 NP_055094 NACC2 138151 broad.mit.edu 37 9 138916002 138916003 + Intron DEL GT - - rs71507095 2011-2336:2012-335-T g.chr9:138916002_138916003delGT uc004cgw.2 - NACC2_uc010nbh.2_Intron NM_144653 NP_653254 LGR6 59352 broad.mit.edu 37 1 202174496 202174497 + Intron DEL AA - - rs141417100 by1000genomes 2011-2337:2012-307-T g.chr1:202174496_202174497delAA uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 USH2A 7399 broad.mit.edu 37 1 215914592 215914592 + Intron DEL A - - 2011-2337:2012-307-T g.chr1:215914592delA uc001hku.1 - NM_206933 NP_996816 ANXA8 653145 broad.mit.edu 37 10 47014230 47014230 + Intron DEL A - - rs66488210 2011-2337:2012-307-T g.chr10:47014230delA uc001jed.3 - ANXA8 653145 broad.mit.edu 37 10 47058662 47058663 + Intron DEL AT - - 2011-2337:2012-307-T g.chr10:47058662_47058663delAT uc001jed.3 - LHPP 64077 broad.mit.edu 37 10 126226788 126226788 + Intron DEL C - - rs66497940 2011-2337:2012-307-T g.chr10:126226788delC uc001lhs.1 + LHPP_uc001lht.1_Intron|LHPP_uc009yai.1_Intron NM_022126 NP_071409 OR8H2 390151 broad.mit.edu 37 11 55872323 55872323 + 5'Flank DEL G - - rs113669153 2011-2337:2012-307-T g.chr11:55872323delG uc010riy.1 + NM_001005200 NP_001005200 SLC22A12 116085 broad.mit.edu 37 11 64363561 64363562 + Intron INS - ATGG ATGG rs146602952 2011-2337:2012-307-T g.chr11:64363561_64363562insATGG uc001oam.1 + SLC22A12_uc009ypr.1_Intron|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.2_Intron NM_144585 NP_653186 FAM168A 23201 broad.mit.edu 37 11 73141323 73141324 + Intron DEL GT - - rs35239246 2011-2337:2012-307-T g.chr11:73141323_73141324delGT uc001otz.1 - FAM168A_uc001oty.1_Intron|FAM168A_uc009ytp.1_Intron NM_015159 NP_055974 CCDC67 159989 broad.mit.edu 37 11 93126111 93126112 + Intron INS - TT TT 2011-2337:2012-307-T g.chr11:93126111_93126112insTT uc001pdq.2 + CCDC67_uc001pdo.1_Intron|CCDC67_uc001pdp.2_Intron NM_181645 NP_857596 COL4A2 1284 broad.mit.edu 37 13 111133550 111133550 + Intron DEL T - - 2011-2337:2012-307-T g.chr13:111133550delT uc001vqx.2 + NM_001846 NP_001837 TFDP1 7027 broad.mit.edu 37 13 114267941 114267942 + Intron INS - GT GT rs149372254;rs66526475 by1000genomes 2011-2337:2012-307-T g.chr13:114267941_114267942insGT uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 RASA3 22821 broad.mit.edu 37 13 114873718 114873719 + Intron DEL AT - - rs74218188 2011-2337:2012-307-T g.chr13:114873718_114873719delAT uc001vui.2 - RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron NM_007368 NP_031394 LMF1 64788 broad.mit.edu 37 16 972685 972685 + Intron DEL T - - 2011-2337:2012-307-T g.chr16:972685delT uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron|uc002ckl.1_Intron NM_022773 NP_073610 MAPK8IP3 23162 broad.mit.edu 37 16 1788428 1788429 + Intron INS - CC CC 2011-2337:2012-307-T g.chr16:1788428_1788429insCC uc002cmk.2 + MAPK8IP3_uc002cmi.1_Intron|MAPK8IP3_uc002cmj.1_Intron|MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Intron NM_015133 NP_055948 SALL1 6299 broad.mit.edu 37 16 51175655 51175656 + In_Frame_Ins INS - GCT GCT rs113614842 2011-2337:2012-307-T g.chr16:51175655_51175656insGCT uc010vgs.1 - 2 508_509 c.477_478insAGC c.(475-480)insAGC p.159_160insS SALL1_uc010vgr.1_In_Frame_Ins_p.62_63insS|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 NLRC5 84166 broad.mit.edu 37 16 57104802 57104803 + Intron INS - T T 2011-2337:2012-307-T g.chr16:57104802_57104803insT uc002ekk.1 + NLRC5_uc010ccr.1_Intron|NLRC5_uc010ccs.1_Intron|NLRC5_uc002eko.1_Intron|NLRC5_uc002ekq.1_Intron|NLRC5_uc002ekr.1_Intron NM_032206 NP_115582 NLRC5 84166 broad.mit.edu 37 16 57105571 57105572 + Intron INS - AGTA AGTA rs144570575 by1000genomes 2011-2337:2012-307-T g.chr16:57105571_57105572insAGTA uc002ekk.1 + NLRC5_uc010ccr.1_Intron|NLRC5_uc010ccs.1_Intron|NLRC5_uc002eko.1_Intron|NLRC5_uc002ekq.1_Intron|NLRC5_uc002ekr.1_Intron NM_032206 NP_115582 DPEP1 1800 broad.mit.edu 37 16 89701305 89701306 + Intron INS - C C 2011-2337:2012-307-T g.chr16:89701305_89701306insC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 RPH3AL 9501 broad.mit.edu 37 17 137956 137957 + Intron INS - CT CT 2011-2337:2012-307-T g.chr17:137956_137957insCT uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 ABR 29 broad.mit.edu 37 17 1022752 1022753 + Intron INS - T T rs139090925;rs67983147 by1000genomes 2011-2337:2012-307-T g.chr17:1022752_1022753insT uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 GRAP 10750 broad.mit.edu 37 17 18933544 18933546 + Intron DEL GCA - - 2011-2337:2012-307-T g.chr17:18933544_18933546delGCA uc002guy.2 - NM_006613 NP_006604 RAB40B 10966 broad.mit.edu 37 17 80650095 80650095 + Intron DEL G - - 2011-2337:2012-307-T g.chr17:80650095delG uc002kft.2 - RAB40B_uc002kfs.2_Intron NM_006822 NP_006813 CEP192 55125 broad.mit.edu 37 18 13106747 13106748 + Intron INS - ACC ACC 2011-2337:2012-307-T g.chr18:13106747_13106748insACC uc010xac.1 + CEP192_uc010dlf.1_Intron|CEP192_uc010xad.1_Intron|CEP192_uc002kru.2_Intron|CEP192_uc002krv.2_Intron|CEP192_uc002krw.2_Intron|CEP192_uc002krx.2_Intron|CEP192_uc002kry.2_Intron NM_032142 NP_115518 PXDN 7837 broad.mit.edu 37 2 1659156 1659157 + Intron DEL AC - - 2011-2337:2012-307-T g.chr2:1659156_1659157delAC uc002qxa.2 - PXDN_uc002qxb.1_Intron NM_012293 NP_036425 RMND5A 64795 broad.mit.edu 37 2 87582068 87582069 + Intron INS - CCCTGA CCCTGA 2011-2337:2012-307-T g.chr2:87582068_87582069insCCCTGA uc002srs.3 + TASP1 55617 broad.mit.edu 37 20 13410262 13410263 + Intron INS - GT GT rs144272507;rs36104978 by1000genomes 2011-2337:2012-307-T g.chr20:13410262_13410263insGT uc002woi.2 - TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Intron NM_017714 NP_060184 TOM1 10043 broad.mit.edu 37 22 35739250 35739251 + Intron INS - CA CA 2011-2337:2012-307-T g.chr22:35739250_35739251insCA uc003ann.2 + TOM1_uc011ami.1_Intron|TOM1_uc011amj.1_Intron|TOM1_uc003ans.2_Intron|TOM1_uc011amk.1_Intron|TOM1_uc003anp.2_Intron|TOM1_uc011aml.1_Intron|TOM1_uc003ano.2_Intron|TOM1_uc003anq.2_Intron|TOM1_uc003anr.2_Intron NM_005488 NP_005479 TNK2 10188 broad.mit.edu 37 3 195597873 195597874 + Intron INS - G G rs140349508 by1000genomes 2011-2337:2012-307-T g.chr3:195597873_195597874insG uc003fvu.1 - TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Intron|TNK2_uc003fvs.1_Intron|TNK2_uc003fvt.1_Intron|TNK2_uc010hzw.1_Intron|TNK2_uc003fvv.1_Intron NM_005781 NP_005772 PDZD2 23037 broad.mit.edu 37 5 32002860 32002860 + Intron DEL C - - 2011-2337:2012-307-T g.chr5:32002860delC uc003jhl.2 + PDZD2_uc003jhm.2_Intron|PDZD2_uc011cnx.1_Intron NM_178140 NP_835260 ADAP1 11033 broad.mit.edu 37 7 945259 945260 + Intron INS - A A rs145893866 2011-2337:2012-307-T g.chr7:945259_945260insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 982076 982077 + Intron INS - G G 2011-2337:2012-307-T g.chr7:982076_982077insG uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 982353 982355 + Intron DEL GAC - - 2011-2337:2012-307-T g.chr7:982353_982355delGAC uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 C7orf50 84310 broad.mit.edu 37 7 1110451 1110452 + Intron INS - CACATGTG CACATGTG rs13224944 2011-2337:2012-307-T g.chr7:1110451_1110452insCACATGTG uc003sju.2 - C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 MAD1L1 8379 broad.mit.edu 37 7 1980649 1980650 + Intron INS - T T rs143896454 by1000genomes 2011-2337:2012-307-T g.chr7:1980649_1980650insT uc003slh.1 - MAD1L1_uc003sle.1_Intron|MAD1L1_uc003slf.1_Intron|MAD1L1_uc003slg.1_Intron|MAD1L1_uc010ksh.1_Intron|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Intron|MAD1L1_uc010ksj.2_Intron|MAD1L1_uc003sld.1_5'Flank NM_001013836 NP_001013858 TOP1MT 116447 broad.mit.edu 37 8 144404078 144404081 + Intron DEL ACAG - - 2011-2337:2012-307-T g.chr8:144404078_144404081delACAG uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 NACC2 138151 broad.mit.edu 37 9 138915939 138915940 + Intron DEL GT - - 2011-2337:2012-307-T g.chr9:138915939_138915940delGT uc004cgw.2 - NACC2_uc010nbh.2_Intron NM_144653 NP_653254 AGRN 375790 broad.mit.edu 37 1 966062 966063 + Intron INS - GC GC 2011-2338:2012-306-T g.chr1:966062_966063insGC uc001ack.1 + NM_198576 NP_940978 MEGF6 1953 broad.mit.edu 37 1 3418581 3418581 + Intron DEL G - - 2011-2338:2012-306-T g.chr1:3418581delG uc001akl.2 - MEGF6_uc001akk.2_Intron NM_001409 NP_001400 CAMTA1 23261 broad.mit.edu 37 1 6997555 6997555 + Intron DEL T - - 2011-2338:2012-306-T g.chr1:6997555delT uc001aoi.2 + NM_015215 NP_056030 CAMTA1 23261 broad.mit.edu 37 1 6997561 6997564 + Intron DEL ACTT - - 2011-2338:2012-306-T g.chr1:6997561_6997564delACTT uc001aoi.2 + NM_015215 NP_056030 CAMTA1 23261 broad.mit.edu 37 1 6997571 6997573 + Intron DEL ACT - - rs148447554 by1000genomes 2011-2338:2012-306-T g.chr1:6997571_6997573delACT uc001aoi.2 + NM_015215 NP_056030 SDC3 9672 broad.mit.edu 37 1 31367103 31367104 + Intron DEL TG - - rs5773326;rs3080429 2011-2338:2012-306-T g.chr1:31367103_31367104delTG uc001bse.2 - NM_014654 NP_055469 MAGI3 260425 broad.mit.edu 37 1 114015357 114015358 + Intron DEL TG - - rs35390645 2011-2338:2012-306-T g.chr1:114015357_114015358delTG uc001edk.2 + MAGI3_uc001edh.3_Intron|MAGI3_uc001edi.3_Intron|MAGI3_uc010owm.1_Intron NM_001142782 NP_001136254 KIF26B 55083 broad.mit.edu 37 1 245606320 245606322 + Intron DEL AGA - - 2011-2338:2012-306-T g.chr1:245606320_245606322delAGA uc001ibf.1 + KIF26B_uc010pyq.1_Intron NM_018012 NP_060482 ADARB2 105 broad.mit.edu 37 10 1506873 1506874 + Intron INS - AT AT 2011-2338:2012-306-T g.chr10:1506873_1506874insAT uc009xhq.2 - NM_018702 NP_061172 CCDC6 8030 broad.mit.edu 37 10 61641828 61641829 + Intron DEL CG - - rs72411640;rs71185291 2011-2338:2012-306-T g.chr10:61641828_61641829delCG uc001jks.3 - NM_005436 NP_005427 STK32C 282974 broad.mit.edu 37 10 134081648 134081649 + Intron DEL TG - - 2011-2338:2012-306-T g.chr10:134081648_134081649delTG uc001lle.1 - STK32C_uc001lld.1_Intron|STK32C_uc010quu.1_Intron|STK32C_uc009ybc.1_Intron|STK32C_uc009ybd.1_Intron NM_173575 NP_775846 KNDC1 85442 broad.mit.edu 37 10 135037364 135037365 + Intron DEL TG - - 2011-2338:2012-306-T g.chr10:135037364_135037365delTG uc001llz.1 + NM_152643 NP_689856 MS4A5 64232 broad.mit.edu 37 11 60214597 60214598 + Intron INS - CTATG CTATG 2011-2338:2012-306-T g.chr11:60214597_60214598insCTATG uc001npo.2 + NM_023945 NP_076434 VWCE 220001 broad.mit.edu 37 11 61039647 61039648 + Intron DEL AC - - 2011-2338:2012-306-T g.chr11:61039647_61039648delAC uc001nra.2 - VWCE_uc001nrb.2_Intron NM_152718 NP_689931 B4GALNT3 283358 broad.mit.edu 37 12 620856 620859 + Intron DEL TCTG - - rs148555126;rs147776998 by1000genomes;by1000genomes 2011-2338:2012-306-T g.chr12:620856_620859delTCTG uc001qii.1 + NM_173593 NP_775864 RPH3A 22895 broad.mit.edu 37 12 113012327 113012328 + 5'Flank INS - GTT GTT 2011-2338:2012-306-T g.chr12:113012327_113012328insGTT uc010syl.1 + NM_001143854 NP_001137326 RPH3A 22895 broad.mit.edu 37 12 113012330 113012331 + 5'Flank INS - GAA GAA 2011-2338:2012-306-T g.chr12:113012330_113012331insGAA uc010syl.1 + NM_001143854 NP_001137326 NCOR2 9612 broad.mit.edu 37 12 124952583 124952584 + Intron INS - TCC TCC rs147189850 by1000genomes 2011-2338:2012-306-T g.chr12:124952583_124952584insTCC uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 TMEM132D 121256 broad.mit.edu 37 12 129573290 129573290 + Intron DEL G - - 2011-2338:2012-306-T g.chr12:129573290delG uc009zyl.1 - TMEM132D_uc001uia.2_5'Flank NM_133448 NP_597705 SMOC1 64093 broad.mit.edu 37 14 70391670 70391670 + Intron DEL G - - 2011-2338:2012-306-T g.chr14:70391670delG uc001xls.1 + SMOC1_uc001xlt.1_Intron NM_022137 NP_071420 BDKRB2 624 broad.mit.edu 37 14 96709694 96709695 + 3'UTR INS - A A 2011-2338:2012-306-T g.chr14:96709694_96709695insA uc010avm.1 + 3 BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_3'UTR|BDKRB2_uc001yfg.2_3'UTR NM_000623 NP_000614 LMF1 64788 broad.mit.edu 37 16 1000095 1000096 + Intron DEL AG - - 2011-2338:2012-306-T g.chr16:1000095_1000096delAG uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 IFT140 9742 broad.mit.edu 37 16 1656928 1656929 + Intron DEL CA - - rs111286800 by1000genomes 2011-2338:2012-306-T g.chr16:1656928_1656929delCA uc002cmb.2 - NM_014714 NP_055529 COTL1 23406 broad.mit.edu 37 16 84612513 84612534 + Intron DEL ACATGCATGCATACACACAGAT - - rs11272175;rs79753762 2011-2338:2012-306-T g.chr16:84612513_84612534delACATGCATGCATACACACAGAT uc002fid.2 - COTL1_uc002fie.2_Intron|COTL1_uc010chk.2_Intron|COTL1_uc002fif.1_5'Flank NM_021149 NP_066972 ANKRD11 29123 broad.mit.edu 37 16 89372532 89372533 + Intron INS - CG CG 2011-2338:2012-306-T g.chr16:89372532_89372533insCG uc002fmx.1 - ANKRD11_uc002fmy.1_Intron|ANKRD11_uc002fnc.1_Intron|ANKRD11_uc002fnd.2_Intron|ANKRD11_uc002fne.2_Intron|ANKRD11_uc002fng.1_Intron|ANKRD11_uc002fnf.1_Intron NM_013275 NP_037407 DPEP1 1800 broad.mit.edu 37 16 89701258 89701259 + Intron INS - C C 2011-2338:2012-306-T g.chr16:89701258_89701259insC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701363 89701363 + Intron DEL T - - 2011-2338:2012-306-T g.chr16:89701363delT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701496 89701497 + Intron INS - C C 2011-2338:2012-306-T g.chr16:89701496_89701497insC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 TBC1D16 125058 broad.mit.edu 37 17 77998224 77998225 + Intron INS - TAC TAC 2011-2338:2012-306-T g.chr17:77998224_77998225insTAC uc002jxj.2 - NM_019020 NP_061893 RPTOR 57521 broad.mit.edu 37 17 78608443 78608453 + Intron DEL ATACTGTATGT - - rs140181873;rs72281071;rs116652321;rs72042835 by1000genomes;by1000genomes 2011-2338:2012-306-T g.chr17:78608443_78608453delATACTGTATGT uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 FN3KRP 79672 broad.mit.edu 37 17 80675943 80675944 + Intron DEL TG - - 2011-2338:2012-306-T g.chr17:80675943_80675944delTG uc002kfu.2 + FN3KRP_uc010wvr.1_Intron NM_024619 NP_078895 BCL2 596 broad.mit.edu 37 18 60885975 60885975 + Intron DEL T - - rs113355863 by1000genomes 2011-2338:2012-306-T g.chr18:60885975delT uc002lit.1 - BCL2_uc002liu.1_Intron NM_000633 NP_000624 ZNF236 7776 broad.mit.edu 37 18 74679557 74679558 + Intron INS - GGT GGT rs113352608 2011-2338:2012-306-T g.chr18:74679557_74679558insGGT uc002lmi.2 + ZNF236_uc002lmj.2_Intron NM_007345 NP_031371 SBNO2 22904 broad.mit.edu 37 19 1164574 1164575 + Intron INS - A A 2011-2338:2012-306-T g.chr19:1164574_1164575insA uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 TCF3 6929 broad.mit.edu 37 19 1627946 1627946 + Intron DEL A - - rs57823543 2011-2338:2012-306-T g.chr19:1627946delA uc002ltr.2 - TCF3_uc002ltt.3_Intron|TCF3_uc002ltq.2_Intron|TCF3_uc002lts.1_Intron NM_003200 NP_003191 TCF3 6929 broad.mit.edu 37 19 1627951 1627951 + Intron DEL A - - rs66635180 2011-2338:2012-306-T g.chr19:1627951delA uc002ltr.2 - TCF3_uc002ltt.3_Intron|TCF3_uc002ltq.2_Intron|TCF3_uc002lts.1_Intron NM_003200 NP_003191 CACNG7 59284 broad.mit.edu 37 19 54424365 54424366 + Intron INS - C C rs67792019 2011-2338:2012-306-T g.chr19:54424365_54424366insC uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 TPO 7173 broad.mit.edu 37 2 1426135 1426136 + Intron INS - T T 2011-2338:2012-306-T g.chr2:1426135_1426136insT uc002qww.2 + TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Intron|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Intron NM_000547 NP_000538 RMND5A 64795 broad.mit.edu 37 2 87576909 87576910 + Intron INS - G G 2011-2338:2012-306-T g.chr2:87576909_87576910insG uc002srs.3 + RAB3GAP1 22930 broad.mit.edu 37 2 135875141 135875143 + Intron DEL CTT - - 2011-2338:2012-306-T g.chr2:135875141_135875143delCTT uc002tuj.2 + RAB3GAP1_uc010fnf.2_Intron|RAB3GAP1_uc010fng.2_Intron|RAB3GAP1_uc010fnh.1_Intron NM_012233 NP_036365 RAB3GAP1 22930 broad.mit.edu 37 2 135875222 135875224 + Intron DEL CTG - - 2011-2338:2012-306-T g.chr2:135875222_135875224delCTG uc002tuj.2 + RAB3GAP1_uc010fnf.2_Intron|RAB3GAP1_uc010fng.2_Intron|RAB3GAP1_uc010fnh.1_Intron NM_012233 NP_036365 TTN 7273 broad.mit.edu 37 2 179500136 179500137 + Intron INS - A A 2011-2338:2012-306-T g.chr2:179500136_179500137insA uc010zfg.1 - TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron NM_133378 NP_596869 C20orf26 26074 broad.mit.edu 37 20 20337720 20337721 + Intron INS - GT GT 2011-2338:2012-306-T g.chr20:20337720_20337721insGT uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 ADAMTS5 11096 broad.mit.edu 37 21 28338947 28338947 + 5'UTR DEL T - - rs79253698 2011-2338:2012-306-T g.chr21:28338947delT uc002ymg.2 - 1 NM_007038 NP_008969 ADAMTS5 11096 broad.mit.edu 37 21 28338951 28338952 + 5'UTR DEL GT - - rs150236756;rs71183590 2011-2338:2012-306-T g.chr21:28338951_28338952delGT uc002ymg.2 - 1 NM_007038 NP_008969 COL18A1 80781 broad.mit.edu 37 21 46857216 46857217 + Intron INS - CAGA CAGA rs149679949 by1000genomes 2011-2338:2012-306-T g.chr21:46857216_46857217insCAGA uc002zhg.2 + NM_130445 NP_569712 CACNA1I 8911 broad.mit.edu 37 22 39978966 39978967 + Intron INS - ATCT ATCT rs149804016;rs146182752 by1000genomes 2011-2338:2012-306-T g.chr22:39978966_39978967insATCT uc003ayc.2 + CACNA1I_uc003ayd.2_Intron NM_021096 NP_066919 TTLL8 164714 broad.mit.edu 37 22 50467012 50467012 + Intron DEL C - - 2011-2338:2012-306-T g.chr22:50467012delC uc011ark.1 - NM_001080447 NP_001073916 CPNE4 131034 broad.mit.edu 37 3 131256128 131256128 + Intron DEL T - - 2011-2338:2012-306-T g.chr3:131256128delT uc003eok.2 - CPNE4_uc011blq.1_Intron|CPNE4_uc003eol.2_Intron|CPNE4_uc003eom.2_Intron|CPNE4_uc003eoj.2_Intron NM_130808 NP_570720 TNK2 10188 broad.mit.edu 37 3 195614759 195614776 + Intron DEL GCACGTGCATGCGTGTGT - - rs59022470 2011-2338:2012-306-T g.chr3:195614759_195614776delGCACGTGCATGCGTGTGT uc003fvu.1 - TNK2_uc003fvs.1_Intron|TNK2_uc003fvt.1_Intron|TNK2_uc010hzw.1_Intron|TNK2_uc003fvv.1_5'Flank|TNK2_uc010hzx.1_Intron NM_005781 NP_005772 PCYT1A 5130 broad.mit.edu 37 3 195977302 195977303 + Intron INS - GCTGAG GCTGAG 2011-2338:2012-306-T g.chr3:195977302_195977303insGCTGAG uc003fwg.2 - PCYT1A_uc003fwh.2_Intron NM_005017 NP_005008 JAKMIP1 152789 broad.mit.edu 37 4 6128342 6128343 + Intron INS - AC AC rs141257246 by1000genomes 2011-2338:2012-306-T g.chr4:6128342_6128343insAC uc003giu.3 - JAKMIP1_uc010idb.1_Intron|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Intron|JAKMIP1_uc010ide.2_Intron NM_144720 NP_653321 NKD2 85409 broad.mit.edu 37 5 1022574 1022575 + Intron INS - A A 2011-2338:2012-306-T g.chr5:1022574_1022575insA uc003jbt.1 + NKD2_uc010itf.1_Intron NM_033120 NP_149111 SLIT3 6586 broad.mit.edu 37 5 168173285 168173285 + Intron DEL T - - rs79937468 2011-2338:2012-306-T g.chr5:168173285delT uc003mab.2 - SLIT3_uc010jjg.2_Intron NM_003062 NP_003053 SLIT3 6586 broad.mit.edu 37 5 168173298 168173303 + Intron DEL TGTGGG - - 2011-2338:2012-306-T g.chr5:168173298_168173303delTGTGGG uc003mab.2 - SLIT3_uc010jjg.2_Intron NM_003062 NP_003053 SLIT3 6586 broad.mit.edu 37 5 168173316 168173317 + Intron INS - GT GT 2011-2338:2012-306-T g.chr5:168173316_168173317insGT uc003mab.2 - SLIT3_uc010jjg.2_Intron NM_003062 NP_003053 RNGTT 8732 broad.mit.edu 37 6 89638989 89638989 + Intron DEL A - - rs111616936 2011-2338:2012-306-T g.chr6:89638989delA uc003pmr.2 - RNGTT_uc003pms.2_Intron|RNGTT_uc011dzu.1_Intron|RNGTT_uc003pmt.2_Intron NM_003800 NP_003791 PARK2 5071 broad.mit.edu 37 6 162956002 162956002 + Intron DEL C - - 2011-2338:2012-306-T g.chr6:162956002delC uc003qtx.3 - PARK2_uc003qty.3_Intron|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Intron NM_004562 NP_004553 ADAP1 11033 broad.mit.edu 37 7 945253 945253 + Intron DEL A - - 2011-2338:2012-306-T g.chr7:945253delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945270 945271 + Intron INS - G G 2011-2338:2012-306-T g.chr7:945270_945271insG uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945964 945965 + Intron INS - A A 2011-2338:2012-306-T g.chr7:945964_945965insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 946142 946143 + Intron DEL GA - - rs58373074 2011-2338:2012-306-T g.chr7:946142_946143delGA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 982994 982995 + Intron INS - AGGAT AGGAT 2011-2338:2012-306-T g.chr7:982994_982995insAGGAT uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 983010 983012 + Intron DEL GAT - - 2011-2338:2012-306-T g.chr7:983010_983012delGAT uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 C7orf50 84310 broad.mit.edu 37 7 1048462 1048464 + Intron DEL ACA - - rs141008276;rs67075637 2011-2338:2012-306-T g.chr7:1048462_1048464delACA uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 PTPRN2 5799 broad.mit.edu 37 7 157450121 157450122 + Intron DEL CA - - 2011-2338:2012-306-T g.chr7:157450121_157450122delCA uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158119470 158119473 + Intron DEL CACT - - 2011-2338:2012-306-T g.chr7:158119470_158119473delCACT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 VIPR2 7434 broad.mit.edu 37 7 158912591 158912592 + Intron INS - C C 2011-2338:2012-306-T g.chr7:158912591_158912592insC uc003woh.2 - VIPR2_uc010lqx.2_Intron|VIPR2_uc010lqy.2_Intron NM_003382 NP_003373 ERICH1 157697 broad.mit.edu 37 8 626446 626446 + Intron DEL G - - 2011-2338:2012-306-T g.chr8:626446delG uc003wph.2 - ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron|ERICH1_uc003wpi.2_5'Flank NM_207332 NP_997215 FAM167A 83648 broad.mit.edu 37 8 11313941 11313942 + Intron DEL GT - - 2011-2338:2012-306-T g.chr8:11313941_11313942delGT uc003wtw.2 - NM_053279 NP_444509 CSMD3 114788 broad.mit.edu 37 8 113313985 113313985 + Intron DEL G - - 2011-2338:2012-306-T g.chr8:113313985delG uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 RAPGEF1 2889 broad.mit.edu 37 9 134462397 134462398 + Intron DEL AA - - rs148368834 by1000genomes 2011-2338:2012-306-T g.chr9:134462397_134462398delAA uc004cbc.2 - RAPGEF1_uc004cbb.2_Intron NM_005312 NP_005303 MAN1B1 11253 broad.mit.edu 37 9 139998175 139998179 + Intron DEL GTTAC - - 2011-2338:2012-306-T g.chr9:139998175_139998179delGTTAC uc004cld.2 + MAN1B1_uc011meo.1_Intron|MAN1B1_uc011mep.1_Intron|MAN1B1_uc010ncc.2_Intron|MAN1B1_uc004clf.1_5'UTR|MAN1B1_uc004clg.1_5'Flank NM_016219 NP_057303 EXD3 54932 broad.mit.edu 37 9 140225004 140225004 + Intron DEL G - - 2011-2338:2012-306-T g.chr9:140225004delG uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron NM_017820 NP_060290 LGR6 59352 broad.mit.edu 37 1 202174120 202174121 + Intron DEL AC - - 2011-2339:2012-305-T g.chr1:202174120_202174121delAC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 GATA3 2625 broad.mit.edu 37 10 8096706 8096707 + 5'UTR INS - AAA AAA rs60098638;rs71977450 2011-2339:2012-305-T g.chr10:8096706_8096707insAAA uc001ika.2 + 1 FLJ45983_uc010qbe.1_5'Flank|FLJ45983_uc001ijx.1_5'Flank|FLJ45983_uc010qbf.1_5'Flank|FLJ45983_uc010qbg.1_5'Flank|FLJ45983_uc001ijy.1_5'Flank|GATA3_uc001ijz.2_5'UTR NM_002051 NP_002042 TSPAN9 10867 broad.mit.edu 37 12 3378418 3378419 + Intron INS - CA CA 2011-2339:2012-305-T g.chr12:3378418_3378419insCA uc001qlp.2 + NM_006675 NP_006666 KSR2 283455 broad.mit.edu 37 12 118232272 118232273 + Intron DEL CT - - rs139740958 by1000genomes 2011-2339:2012-305-T g.chr12:118232272_118232273delCT uc001two.2 - NM_173598 NP_775869 TP53 7157 broad.mit.edu 37 17 7579321 7579322 + Frame_Shift_Del DEL CA - - 2011-2339:2012-305-T g.chr17:7579321_7579322delCA uc002gim.2 - 4 559_560 c.365_366delTG c.(364-366)GTGfs p.V122fs TP53_uc002gig.1_Frame_Shift_Del_p.V122fs|TP53_uc002gih.2_Frame_Shift_Del_p.V122fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.V122fs|TP53_uc010cni.1_Frame_Shift_Del_p.V122fs|TP53_uc002gij.2_Frame_Shift_Del_p.V122fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.V83fs|TP53_uc010cnk.1_Frame_Shift_Del_p.V137fs NM_001126112 NP_001119584 BRCA1 672 broad.mit.edu 37 17 41249168 41249169 + Intron INS - A A 2011-2339:2012-305-T g.chr17:41249168_41249169insA uc002icq.2 - BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Intron|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Intron|BRCA1_uc002ict.2_Intron|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Intron|BRCA1_uc002ide.1_Intron|BRCA1_uc010cyy.1_Intron|BRCA1_uc010whs.1_Intron|BRCA1_uc010cyz.2_Intron|BRCA1_uc010cza.2_Intron|BRCA1_uc010wht.1_Intron NM_007294 NP_009225 SLC38A10 124565 broad.mit.edu 37 17 79223075 79223077 + Intron DEL GAA - - 2011-2339:2012-305-T g.chr17:79223075_79223077delGAA uc002jzz.1 - SLC38A10_uc002jzy.1_Intron NM_001037984 NP_001033073 TGFBR2 7048 broad.mit.edu 37 3 30702786 30702787 + Intron DEL CT - - 2011-2339:2012-305-T g.chr3:30702786_30702787delCT uc003ceo.2 + TGFBR2_uc003cen.2_Intron NM_003242 NP_003233 TET2 54790 broad.mit.edu 37 4 106162487 106162487 + Intron DEL T - - 2011-2339:2012-305-T g.chr4:106162487delT uc003hxk.2 + TET2_uc011cez.1_Intron|TET2_uc003hxj.2_Intron|TET2_uc010ilp.1_Intron|TET2_uc003hxi.1_3'UTR NM_001127208 NP_001120680 SLC12A7 10723 broad.mit.edu 37 5 1071171 1071171 + Intron DEL G - - 2011-2339:2012-305-T g.chr5:1071171delG uc003jbu.2 - NM_006598 NP_006589 PNPLA7 375775 broad.mit.edu 37 9 140413069 140413069 + Intron DEL A - - 2011-2339:2012-305-T g.chr9:140413069delA uc004cnf.2 - PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Intron NM_152286 NP_689499 IDI1 3422 broad.mit.edu 37 10 1092860 1092861 + Intron INS - CCGT CCGT 2011-2340:2012-304-T g.chr10:1092860_1092861insCCGT uc001iga.2 - IDI1_uc001ifz.2_5'Flank|IDI1_uc001igb.2_Intron|IDI1_uc001igc.2_Intron|uc001igd.2_5'Flank NM_004508 NP_004499 CELF2 10659 broad.mit.edu 37 10 11326126 11326127 + Intron DEL GC - - rs144148946 by1000genomes 2011-2340:2012-304-T g.chr10:11326126_11326127delGC uc001iki.3 + CELF2_uc010qbi.1_Intron|CELF2_uc010qbj.1_Intron|CELF2_uc001ikk.2_Intron|CELF2_uc001ikl.3_Intron|CELF2_uc010qbk.1_Intron|CELF2_uc010qbl.1_Intron|CELF2_uc010qbm.1_Intron|CELF2_uc001iko.3_Intron|CELF2_uc001ikp.3_Intron|CELF2_uc010qbn.1_Intron|CELF2_uc010qbo.1_Intron|CELF2_uc010qbp.1_Intron NM_001025077 NP_001020248 MUC5B 727897 broad.mit.edu 37 11 1153340 1153340 + Intron DEL T - - 2011-2340:2012-304-T g.chr11:1153340delT uc009ycr.1 + NM_017511 NP_059981 NTM 50863 broad.mit.edu 37 11 131550452 131550453 + Intron INS - GTGC GTGC rs113062764 2011-2340:2012-304-T g.chr11:131550452_131550453insGTGC uc010sci.1 + NTM_uc001qgm.2_Intron|NTM_uc010sch.1_Intron NM_001144058 NP_001137530 COL4A2 1284 broad.mit.edu 37 13 111133880 111133880 + Intron DEL T - - rs74198691 2011-2340:2012-304-T g.chr13:111133880delT uc001vqx.2 + NM_001846 NP_001837 CUL4A 8451 broad.mit.edu 37 13 113886701 113886702 + Intron DEL TA - - 2011-2340:2012-304-T g.chr13:113886701_113886702delTA uc010tjy.1 + CUL4A_uc010tjx.1_Intron|CUL4A_uc010agu.2_Intron|CUL4A_uc001vtl.1_5'Flank NM_001008895 NP_001008895 RASA3 22821 broad.mit.edu 37 13 114761573 114761574 + Intron INS - G G 2011-2340:2012-304-T g.chr13:114761573_114761574insG uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron NM_007368 NP_031394 PPP4R4 57718 broad.mit.edu 37 14 94684770 94684771 + Intron DEL CA - - 2011-2340:2012-304-T g.chr14:94684770_94684771delCA uc001ycs.1 + PPP4R4_uc001ycr.2_Intron NM_058237 NP_478144 ARNT2 9915 broad.mit.edu 37 15 80736987 80736988 + Intron DEL GC - - rs117857687 by1000genomes 2011-2340:2012-304-T g.chr15:80736987_80736988delGC uc002bfr.2 + ARNT2_uc002bfq.2_Intron|ARNT2_uc010unm.1_Intron|ARNT2_uc002bfs.2_Intron NM_014862 NP_055677 DPEP1 1800 broad.mit.edu 37 16 89701300 89701300 + Intron DEL T - - 2011-2340:2012-304-T g.chr16:89701300delT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 CLEC10A 10462 broad.mit.edu 37 17 6980599 6980599 + Intron DEL C - - 2011-2340:2012-304-T g.chr17:6980599delC uc002gek.2 - CLEC10A_uc002gej.2_Intron|CLEC10A_uc002gel.2_Intron|CLEC10A_uc010clv.1_Intron NM_182906 NP_878910 HDAC4 9759 broad.mit.edu 37 2 240106534 240106535 + Intron DEL GT - - rs66594103 2011-2340:2012-304-T g.chr2:240106534_240106535delGT uc002vyk.3 - HDAC4_uc010fyz.1_Intron|HDAC4_uc010zoa.1_Intron|HDAC4_uc010fza.2_Intron|HDAC4_uc010fyy.2_Intron NM_006037 NP_006028 PTK6 5753 broad.mit.edu 37 20 62163515 62163516 + Intron DEL TG - - 2011-2340:2012-304-T g.chr20:62163515_62163516delTG uc002yfg.2 - PTK6_uc011aay.1_Intron|PTK6_uc011aaz.1_Intron NM_005975 NP_005966 EP300 2033 broad.mit.edu 37 22 41566463 41566465 + In_Frame_Del DEL TCT - - rs113856266 2011-2340:2012-304-T g.chr22:41566463_41566465delTCT uc003azl.3 + 27 4735_4737 c.4340_4342delTCT c.(4339-4344)ATCTTC>ATC p.F1448del NM_001429 NP_001420 TBC1D22A 25771 broad.mit.edu 37 22 47302975 47302976 + Intron INS - TG TG rs141246403;rs35513170 by1000genomes 2011-2340:2012-304-T g.chr22:47302975_47302976insTG uc003bib.2 + TBC1D22A_uc010haf.2_Intron|TBC1D22A_uc003bic.2_Intron|TBC1D22A_uc003bie.2_Intron|TBC1D22A_uc003bid.2_Intron|TBC1D22A_uc010hag.2_Intron|TBC1D22A_uc003bif.2_Intron NM_014346 NP_055161 PRSS38 339501 broad.mit.edu 37 1 228032211 228032213 + Intron DEL CTT - - 2011-2341:2012-303-T g.chr1:228032211_228032213delCTT uc001hrh.2 + NM_183062 NP_898885 ODF3 113746 broad.mit.edu 37 11 196148 196149 + 5'Flank DEL GA - - 2011-2341:2012-303-T g.chr11:196148_196149delGA uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 NUMA1 4926 broad.mit.edu 37 11 71719801 71719801 + Frame_Shift_Del DEL G - - 2011-2341:2012-303-T g.chr11:71719801delG uc001orl.1 - 20 5321 c.5149delC c.(5149-5151)CAGfs p.Q1717fs NUMA1_uc001orj.2_5'UTR|NUMA1_uc009ysw.1_Frame_Shift_Del_p.Q1266fs|NUMA1_uc001ork.1_Frame_Shift_Del_p.Q581fs|NUMA1_uc001orm.1_Frame_Shift_Del_p.Q1703fs|NUMA1_uc001orn.2_Frame_Shift_Del_p.Q1280fs NM_006185 NP_006176 NCOR2 9612 broad.mit.edu 37 12 124916419 124916420 + Intron DEL AC - - 2011-2341:2012-303-T g.chr12:124916419_124916420delAC uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 RIMBP2 23504 broad.mit.edu 37 12 131068893 131068894 + Intron INS - A A 2011-2341:2012-303-T g.chr12:131068893_131068894insA uc001uim.2 - RIMBP2 23504 broad.mit.edu 37 12 131068897 131068898 + Intron INS - CT CT 2011-2341:2012-303-T g.chr12:131068897_131068898insCT uc001uim.2 - DPEP1 1800 broad.mit.edu 37 16 89701347 89701347 + Intron DEL T - - 2011-2341:2012-303-T g.chr16:89701347delT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701433 89701433 + Intron DEL C - - 2011-2341:2012-303-T g.chr16:89701433delC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 IFT122 55764 broad.mit.edu 37 3 129236112 129236115 + Intron DEL CACA - - rs146861755;rs9855705 by1000genomes 2011-2341:2012-303-T g.chr3:129236112_129236115delCACA uc003emm.2 + IFT122_uc003eml.2_Intron|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Intron|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Intron NM_052989 NP_443715 PIK3CB 5291 broad.mit.edu 37 3 138384053 138384054 + Intron INS - A A 2011-2341:2012-303-T g.chr3:138384053_138384054insA uc011bmq.1 - PIK3CB_uc011bmn.1_Intron|PIK3CB_uc011bmo.1_Intron|PIK3CB_uc011bmp.1_Intron NM_006219 NP_006210 BST1 683 broad.mit.edu 37 4 15705319 15705320 + Intron INS - GG GG 2011-2341:2012-303-T g.chr4:15705319_15705320insGG uc003goh.3 + NM_004334 NP_004325 ICA1 3382 broad.mit.edu 37 7 8192521 8192522 + Intron DEL TA - - rs78937210 2011-2341:2012-303-T g.chr7:8192521_8192522delTA uc003srm.2 - ICA1_uc010ktr.2_Intron|ICA1_uc003srl.2_Intron|ICA1_uc003srn.3_Intron|ICA1_uc003srp.3_Intron|ICA1_uc010kts.2_Intron|ICA1_uc003srq.2_Intron|ICA1_uc003srr.2_Intron|ICA1_uc003sro.3_Intron NM_022307 NP_071682 ASH1L 55870 broad.mit.edu 37 1 155327042 155327045 + Intron DEL TTTT - - 2011-2342:2012-302-T g.chr1:155327042_155327045delTTTT uc009wqq.2 - RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Intron NM_018489 NP_060959 CALY 50632 broad.mit.edu 37 10 135147763 135147763 + Intron DEL G - - 2011-2342:2012-302-T g.chr10:135147763delG uc001lmo.2 - NM_015722 NP_056537 TRAF3 7187 broad.mit.edu 37 14 103336643 103336653 + Frame_Shift_Del DEL ACAAGGAGGTT - - 2011-2342:2012-302-T g.chr14:103336643_103336653delACAAGGAGGTT uc001ymc.1 + 3 458_468 c.105_115delACAAGGAGGTT c.(103-117)GAACAAGGAGGTTACfs p.E35fs TRAF3_uc001yme.1_Frame_Shift_Del_p.E35fs|TRAF3_uc001ymd.1_Frame_Shift_Del_p.E35fs|TRAF3_uc010txy.1_Frame_Shift_Del_p.E35fs NM_145725 NP_663777 ADAMTS17 170691 broad.mit.edu 37 15 100598506 100598507 + Intron INS - T T rs150896439;rs68090700 by1000genomes 2011-2342:2012-302-T g.chr15:100598506_100598507insT uc002bvv.1 - NM_139057 NP_620688 CYLD 1540 broad.mit.edu 37 16 50820433 50820434 + Intron INS - GCCGAGGT GCCGAGGT rs144289265;rs149194721 by1000genomes 2011-2342:2012-302-T g.chr16:50820433_50820434insGCCGAGGT uc002egp.1 + CYLD_uc002ego.2_3'UTR|CYLD_uc010cbs.1_Intron|CYLD_uc002egq.1_Intron|CYLD_uc002egr.1_Intron|CYLD_uc002egs.1_Intron NM_015247 NP_056062 DPEP1 1800 broad.mit.edu 37 16 89701226 89701226 + Intron DEL C - - 2011-2342:2012-302-T g.chr16:89701226delC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 NLRP1 22861 broad.mit.edu 37 17 5448861 5448862 + Intron INS - AG AG 2011-2342:2012-302-T g.chr17:5448861_5448862insAG uc002gci.2 - NLRP1_uc002gcg.1_Intron|NLRP1_uc002gck.2_Intron|NLRP1_uc002gcj.2_Intron|NLRP1_uc002gcl.2_Intron|NLRP1_uc002gch.3_Intron|NLRP1_uc010clh.2_Intron NM_033004 NP_127497 PIK3C3 5289 broad.mit.edu 37 18 39570410 39570410 + Intron DEL T - - 2011-2342:2012-302-T g.chr18:39570410delT uc002lap.2 + PIK3C3_uc010xcl.1_Intron NM_002647 NP_002638 TBC1D22A 25771 broad.mit.edu 37 22 47554663 47554664 + Intron DEL AC - - 2011-2342:2012-302-T g.chr22:47554663_47554664delAC uc003bib.2 + TBC1D22A_uc010haf.2_Intron|TBC1D22A_uc003bic.2_Intron|TBC1D22A_uc003bie.2_Intron|TBC1D22A_uc003bid.2_Intron|TBC1D22A_uc010hag.2_Intron|TBC1D22A_uc003bif.2_Intron NM_014346 NP_055161 ADAMTS16 170690 broad.mit.edu 37 5 5305194 5305195 + Intron DEL AT - - 2011-2342:2012-302-T g.chr5:5305194_5305195delAT uc003jdl.2 + NM_139056 NP_620687 ADAP1 11033 broad.mit.edu 37 7 982037 982040 + Intron DEL GAGA - - 2011-2342:2012-302-T g.chr7:982037_982040delGAGA uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 982108 982109 + Intron INS - GAGT GAGT 2011-2342:2012-302-T g.chr7:982108_982109insGAGT uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PTPRN2 5799 broad.mit.edu 37 7 157777143 157777144 + Intron INS - A A 2011-2342:2012-302-T g.chr7:157777143_157777144insA uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 RALGDS 5900 broad.mit.edu 37 9 135999111 135999112 + 5'Flank DEL AG - - rs141118433 2011-2342:2012-302-T g.chr9:135999111_135999112delAG uc004cco.2 - RALGDS_uc004ccp.2_5'Flank|RALGDS_uc004ccq.2_5'Flank|RALGDS_uc004ccr.2_Intron|RALGDS_uc011mcv.1_Intron|RALGDS_uc004ccs.2_Intron|RALGDS_uc011mcw.1_Intron NM_006266 NP_006257 FLG2 388698 broad.mit.edu 37 1 152326321 152326322 + Frame_Shift_Ins INS - TA TA rs150792575 2011-2343:2012-334-T g.chr1:152326321_152326322insTA uc001ezw.3 - 3 4013_4014 c.3940_3941insTA c.(3940-3942)ACTfs p.T1314fs uc001ezv.2_Intron NM_001014342 NP_001014364 DEAF1 10522 broad.mit.edu 37 11 676136 676137 + Intron INS - T T 2011-2343:2012-334-T g.chr11:676136_676137insT uc001lqq.1 - DEAF1_uc009ycf.1_Intron NM_021008 NP_066288 TMEM120B 144404 broad.mit.edu 37 12 122186011 122186012 + Intron INS - CA CA rs112015409 2011-2343:2012-334-T g.chr12:122186011_122186012insCA uc001ubc.3 + TMEM120B_uc009zxh.2_Intron NM_001080825 NP_001074294 RASA3 22821 broad.mit.edu 37 13 114749639 114749640 + Intron INS - TG TG rs71105221;rs78489013 2011-2343:2012-334-T g.chr13:114749639_114749640insTG uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron NM_007368 NP_031394 ADAMTS17 170691 broad.mit.edu 37 15 100598546 100598547 + Intron INS - T T 2011-2343:2012-334-T g.chr15:100598546_100598547insT uc002bvv.1 - NM_139057 NP_620688 DPEP1 1800 broad.mit.edu 37 16 89701210 89701210 + Intron DEL C - - 2011-2343:2012-334-T g.chr16:89701210delC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 TP53 7157 broad.mit.edu 37 17 7577558 7577558 + Frame_Shift_Del DEL G - - 2011-2343:2012-334-T g.chr17:7577558delG uc002gim.2 - 7 917 c.723delC c.(721-723)TCCfs p.S241fs TP53_uc002gig.1_Frame_Shift_Del_p.S241fs|TP53_uc002gih.2_Frame_Shift_Del_p.S241fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.S109fs|TP53_uc010cng.1_Frame_Shift_Del_p.S109fs|TP53_uc002gii.1_Frame_Shift_Del_p.S109fs|TP53_uc010cnh.1_Frame_Shift_Del_p.S241fs|TP53_uc010cni.1_Frame_Shift_Del_p.S241fs|TP53_uc002gij.2_Frame_Shift_Del_p.S241fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.S148fs|TP53_uc002gio.2_Frame_Shift_Del_p.S109fs NM_001126112 NP_001119584 BAGE2 85319 broad.mit.edu 37 21 11097726 11097726 + Intron DEL G - - 2011-2343:2012-334-T g.chr21:11097726delG uc002yit.1 - BAGE_uc002yix.2_Intron NM_182482 NP_872288 FAT1 2195 broad.mit.edu 37 4 187540206 187540206 + Frame_Shift_Del DEL T - - 2011-2343:2012-334-T g.chr4:187540206delT uc003izf.2 - 10 7722 c.7534delA c.(7534-7536)ATGfs p.M2512fs NM_005245 NP_005236 SLC12A7 10723 broad.mit.edu 37 5 1070488 1070489 + Intron INS - G G rs71887531 2011-2343:2012-334-T g.chr5:1070488_1070489insG uc003jbu.2 - NM_006598 NP_006589 CDH9 1007 broad.mit.edu 37 5 26885764 26885764 + Frame_Shift_Del DEL C - - 2011-2343:2012-334-T g.chr5:26885764delC uc003jgs.1 - 11 2010 c.1841delG c.(1840-1842)GGAfs p.G614fs CDH9_uc011cnv.1_Frame_Shift_Del_p.G207fs NM_016279 NP_057363 SLCO4C1 353189 broad.mit.edu 37 5 101632502 101632503 + 5'Flank INS - T T rs144652795;rs35220083 by1000genomes 2011-2343:2012-334-T g.chr5:101632502_101632503insT uc003knm.2 - NM_180991 NP_851322 IKBKAP 8518 broad.mit.edu 37 9 111663156 111663157 + Intron DEL CA - - 2011-2343:2012-334-T g.chr9:111663156_111663157delCA uc004bdm.3 - IKBKAP_uc004bdl.2_Intron|IKBKAP_uc011lwc.1_Intron|IKBKAP_uc010mtq.2_Intron NM_003640 NP_003631 TTF1 7270 broad.mit.edu 37 9 135253160 135253163 + Intron DEL GTGT - - rs145026062 by1000genomes 2011-2343:2012-334-T g.chr9:135253160_135253163delGTGT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 AGRN 375790 broad.mit.edu 37 1 965641 965642 + Intron DEL GT - - 2011-2344:2012-333-T g.chr1:965641_965642delGT uc001ack.1 + NM_198576 NP_940978 MGMT 4255 broad.mit.edu 37 10 131348713 131348713 + Intron DEL T - - rs58863411 2011-2344:2012-333-T g.chr10:131348713delT uc001lkh.2 + NM_002412 NP_002403 PDE3A 5139 broad.mit.edu 37 12 20782922 20782922 + Frame_Shift_Del DEL A - - 2011-2344:2012-333-T g.chr12:20782922delA uc001reh.1 + 6 1643 c.1621delA c.(1621-1623)AAAfs p.K541fs NM_000921 NP_000912 SNX29 92017 broad.mit.edu 37 16 12416734 12416735 + Intron DEL GG - - rs5815682 2011-2344:2012-333-T g.chr16:12416734_12416735delGG uc002dby.3 + NM_001080530 NP_001073999 SNX29 92017 broad.mit.edu 37 16 12416737 12416742 + Intron DEL GTCACT - - rs5815683;rs62039970 by1000genomes 2011-2344:2012-333-T g.chr16:12416737_12416742delGTCACT uc002dby.3 + NM_001080530 NP_001073999 CDH15 1013 broad.mit.edu 37 16 89255592 89255593 + Intron DEL CA - - 2011-2344:2012-333-T g.chr16:89255592_89255593delCA uc002fmt.2 + NM_004933 NP_004924 DPEP1 1800 broad.mit.edu 37 16 89701352 89701353 + Intron INS - C C 2011-2344:2012-333-T g.chr16:89701352_89701353insC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 KIAA1468 57614 broad.mit.edu 37 18 59894429 59894429 + Intron DEL A - - rs35190394 2011-2344:2012-333-T g.chr18:59894429delA uc002lil.2 + KIAA1468_uc002lik.1_Intron|KIAA1468_uc010xel.1_Intron|KIAA1468_uc002lim.2_Intron NM_020854 NP_065905 DNM2 1785 broad.mit.edu 37 19 10869000 10869007 + Intron DEL TCCCTCCT - - rs74180167;rs140922946 by1000genomes 2011-2344:2012-333-T g.chr19:10869000_10869007delTCCCTCCT uc002mps.1 + DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Intron|DNM2_uc002mpv.1_Intron|DNM2_uc002mpu.1_Intron|DNM2_uc010dxl.1_Intron NM_001005361 NP_001005361 CLTCL1 8218 broad.mit.edu 37 22 19189983 19189984 + Intron INS - C C rs12172332 by1000genomes 2011-2344:2012-333-T g.chr22:19189983_19189984insC uc002zpb.2 - CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Intron|CLTCL1_uc011agt.1_Intron|CLTCL1_uc011agu.1_Intron|CLTCL1_uc010grm.1_Intron|CLTCL1_uc002zpe.2_Intron|CLTCL1_uc002zpd.1_Intron NM_007098 NP_009029 MUC21 394263 broad.mit.edu 37 6 30955157 30955157 + Frame_Shift_Del DEL C - - rs55808305 2011-2344:2012-333-T g.chr6:30955157delC uc003nsh.2 + 2 1456 c.1205delC c.(1204-1206)GCCfs p.A402fs MUC21_uc003nsi.1_RNA NM_001010909 NP_001010909 SMOC2 64094 broad.mit.edu 37 6 168999870 168999871 + Intron DEL CT - - rs111326284;rs116042779 2011-2344:2012-333-T g.chr6:168999870_168999871delCT uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 PTPRN2 5799 broad.mit.edu 37 7 158129924 158129925 + Intron DEL CA - - rs66592921 2011-2344:2012-333-T g.chr7:158129924_158129925delCA uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ARHGEF10 9639 broad.mit.edu 37 8 1781229 1781229 + Intron DEL C - - 2011-2344:2012-333-T g.chr8:1781229delC uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 MFSD2A 84879 broad.mit.edu 37 1 40430472 40430473 + Intron DEL GT - - 2011-2345:2012-332-T g.chr1:40430472_40430473delGT uc001cev.2 + MFSD2A_uc010ojb.1_Intron|MFSD2A_uc001ceu.2_Intron|MFSD2A_uc010ojc.1_Intron|MFSD2A_uc009vvy.2_Intron|MFSD2A_uc001cex.2_5'Flank NM_001136493 NP_001129965 PPP4R4 57718 broad.mit.edu 37 14 94684921 94684922 + Intron DEL CA - - 2011-2345:2012-332-T g.chr14:94684921_94684922delCA uc001ycs.1 + PPP4R4_uc001ycr.2_Intron NM_058237 NP_478144 NOTCH3 4854 broad.mit.edu 37 19 15273598 15273605 + Intron DEL GTGTGTGC - - rs4019573;rs757473 by1000genomes 2011-2345:2012-332-T g.chr19:15273598_15273605delGTGTGTGC uc002nan.2 - NM_000435 NP_000426 JPH2 57158 broad.mit.edu 37 20 42817085 42817086 + 5'Flank DEL GA - - rs11469916 2011-2345:2012-332-T g.chr20:42817085_42817086delGA uc002xli.1 - JPH2_uc002xlj.2_5'Flank NM_020433 NP_065166 CHST13 166012 broad.mit.edu 37 3 126258803 126258804 + Intron DEL CA - - 2011-2345:2012-332-T g.chr3:126258803_126258804delCA uc003eja.2 + NM_152889 NP_690849 SLC12A7 10723 broad.mit.edu 37 5 1071550 1071550 + Intron DEL G - - 2011-2345:2012-332-T g.chr5:1071550delG uc003jbu.2 - NM_006598 NP_006589 ARHGEF10 9639 broad.mit.edu 37 8 1781220 1781221 + Intron DEL AG - - 2011-2345:2012-332-T g.chr8:1781220_1781221delAG uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 FAM167A 83648 broad.mit.edu 37 8 11313757 11313757 + Intron DEL C - - 2011-2345:2012-332-T g.chr8:11313757delC uc003wtw.2 - NM_053279 NP_444509 LGR6 59352 broad.mit.edu 37 1 202174525 202174526 + Intron INS - AC AC 2011-2346:2012-301-T g.chr1:202174525_202174526insAC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 LMF1 64788 broad.mit.edu 37 16 1003291 1003292 + Intron INS - CACT CACT rs72419565;rs72343478 2011-2346:2012-301-T g.chr16:1003291_1003292insCACT uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 ABR 29 broad.mit.edu 37 17 1022549 1022549 + Intron DEL T - - 2011-2346:2012-301-T g.chr17:1022549delT uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 SBNO2 22904 broad.mit.edu 37 19 1164401 1164402 + Intron INS - AAC AAC 2011-2346:2012-301-T g.chr19:1164401_1164402insAAC uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 SBNO2 22904 broad.mit.edu 37 19 1166230 1166231 + Intron INS - T T rs150401110;rs66492416 2011-2346:2012-301-T g.chr19:1166230_1166231insT uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 CACNG7 59284 broad.mit.edu 37 19 54426803 54426804 + Intron INS - C C rs75235402 2011-2346:2012-301-T g.chr19:54426803_54426804insC uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 MUSTN1 389125 broad.mit.edu 37 3 52866767 52866767 + Intron DEL T - - rs11313923 2011-2346:2012-301-T g.chr3:52866767delT uc010hmq.1 - ITIH4_uc011bem.1_5'Flank|ITIH4_uc011ben.1_5'Flank|ITIH4_uc003dfz.2_5'Flank|ITIH4_uc010hmp.1_5'Flank AHRR 57491 broad.mit.edu 37 5 345451 345452 + Intron DEL AT - - rs148960070 by1000genomes 2011-2346:2012-301-T g.chr5:345451_345452delAT uc003jav.2 + AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Intron NM_020731 NP_065782 CLPTM1L 81037 broad.mit.edu 37 5 1333691 1333691 + Intron DEL A - - rs67002607 2011-2346:2012-301-T g.chr5:1333691delA uc003jch.2 - CLPTM1L_uc003jcg.2_Intron NM_030782 NP_110409 ADAP1 11033 broad.mit.edu 37 7 945391 945391 + Intron DEL G - - rs143642586 by1000genomes 2011-2346:2012-301-T g.chr7:945391delG uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PRDM16 63976 broad.mit.edu 37 1 3030786 3030791 + Intron DEL CACACG - - rs57351984 2011-2347:2012-300-T g.chr1:3030786_3030791delCACACG uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 LGR6 59352 broad.mit.edu 37 1 202174498 202174509 + Intron DEL ACACACACACCT - - rs150017503;rs141873830;rs138471820 2011-2347:2012-300-T g.chr1:202174498_202174509delACACACACACCT uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 LGR6 59352 broad.mit.edu 37 1 202174525 202174526 + Intron INS - AC AC 2011-2347:2012-300-T g.chr1:202174525_202174526insAC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 CCDC6 8030 broad.mit.edu 37 10 61641988 61641993 + Intron DEL GAAAGT - - 2011-2347:2012-300-T g.chr10:61641988_61641993delGAAAGT uc001jks.3 - NM_005436 NP_005427 ADAM12 8038 broad.mit.edu 37 10 127846821 127846822 + Intron INS - GG GG 2011-2347:2012-300-T g.chr10:127846821_127846822insGG uc001ljk.2 - ADAM12_uc010qul.1_Intron|ADAM12_uc001ljm.2_Intron|ADAM12_uc001ljn.2_Intron|ADAM12_uc001ljl.3_Intron NM_003474 NP_003465 TMEM132B 114795 broad.mit.edu 37 12 125894988 125894988 + Intron DEL T - - 2011-2347:2012-300-T g.chr12:125894988delT uc001uhe.1 + NM_052907 NP_443139 GRK1 6011 broad.mit.edu 37 13 114431194 114431196 + Intron DEL AGT - - 2011-2347:2012-300-T g.chr13:114431194_114431196delAGT uc010tkf.1 + NM_002929 NP_002920 ZC3H14 79882 broad.mit.edu 37 14 89073924 89073924 + Intron DEL A - - 2011-2347:2012-300-T g.chr14:89073924delA uc001xww.2 + ZC3H14_uc010twd.1_Intron|ZC3H14_uc010twe.1_Intron|ZC3H14_uc001xwx.2_Intron|ZC3H14_uc010twf.1_Intron|ZC3H14_uc001xwy.2_Intron|ZC3H14_uc010twg.1_Intron|ZC3H14_uc001xxa.2_Intron|ZC3H14_uc001xxc.2_Intron|ZC3H14_uc001xxb.2_Intron NM_024824 NP_079100 CMIP 80790 broad.mit.edu 37 16 81702723 81702723 + Intron DEL A - - 2011-2347:2012-300-T g.chr16:81702723delA uc002fgp.2 + CMIP_uc002fgq.1_Intron|CMIP_uc010vnq.1_Intron|CMIP_uc002fgr.1_Intron NM_198390 NP_938204 CMIP 80790 broad.mit.edu 37 16 81702725 81702727 + Intron DEL TCA - - rs71656528 2011-2347:2012-300-T g.chr16:81702725_81702727delTCA uc002fgp.2 + CMIP_uc002fgq.1_Intron|CMIP_uc010vnq.1_Intron|CMIP_uc002fgr.1_Intron NM_198390 NP_938204 DPEP1 1800 broad.mit.edu 37 16 89701123 89701124 + Intron INS - T T 2011-2347:2012-300-T g.chr16:89701123_89701124insT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701128 89701129 + Intron INS - C C 2011-2347:2012-300-T g.chr16:89701128_89701129insC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 COL5A2 1290 broad.mit.edu 37 2 190041496 190041497 + Intron DEL CA - - 2011-2347:2012-300-T g.chr2:190041496_190041497delCA uc002uqk.2 - NM_000393 NP_000384 PRPF6 24148 broad.mit.edu 37 20 62653088 62653089 + Intron DEL GT - - 2011-2347:2012-300-T g.chr20:62653088_62653089delGT uc002yho.2 + PRPF6_uc002yhp.2_Intron NM_012469 NP_036601 PCBP3 54039 broad.mit.edu 37 21 47235352 47235352 + Intron DEL G - - 2011-2347:2012-300-T g.chr21:47235352delG uc010gqb.2 + NM_020528 NP_065389 ADAP1 11033 broad.mit.edu 37 7 982889 982892 + Intron DEL AGGG - - 2011-2347:2012-300-T g.chr7:982889_982892delAGGG uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PTPRN2 5799 broad.mit.edu 37 7 158153257 158153258 + Intron INS - G G 2011-2347:2012-300-T g.chr7:158153257_158153258insG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 FAM9A 171482 broad.mit.edu 37 X 8763346 8763348 + In_Frame_Del DEL CTG - - 2011-2347:2012-300-T g.chrX:8763346_8763348delCTG uc004csg.2 - 7 713_715 c.602_604delCAG c.(601-606)GCAGAA>GAA p.A201del NM_174951 NP_777611 AGRN 375790 broad.mit.edu 37 1 965052 965057 + Intron DEL TGTGTG - - rs36212580;rs140315748;rs138003074 2011-2348:2012-331-T g.chr1:965052_965057delTGTGTG uc001ack.1 + NM_198576 NP_940978 FAIM3 9214 broad.mit.edu 37 1 207097912 207097913 + 5'Flank DEL GT - - 2011-2348:2012-331-T g.chr1:207097912_207097913delGT uc001hey.2 - FAIM3_uc010prz.1_5'Flank|FAIM3_uc010psa.1_5'Flank|FAIM3_uc010psb.1_5'Flank NM_005449 NP_005440 CABC1 56997 broad.mit.edu 37 1 227148252 227148257 + Intron DEL GTGTCA - - rs144702160 by1000genomes 2011-2348:2012-331-T g.chr1:227148252_227148257delGTGTCA uc001hqm.1 + CABC1_uc010pvp.1_Intron|CABC1_uc001hqn.1_Intron|CABC1_uc009xeq.1_Intron|CABC1_uc010pvq.1_Intron NM_020247 NP_064632 AKT3 10000 broad.mit.edu 37 1 244006807 244006807 + 5'Flank DEL T - - 2011-2348:2012-331-T g.chr1:244006807delT uc001iab.1 - AKT3_uc001hzz.1_5'Flank NM_005465 NP_005456 CNST 163882 broad.mit.edu 37 1 246783794 246783795 + Intron DEL TC - - 2011-2348:2012-331-T g.chr1:246783794_246783795delTC uc001ibp.2 + CNST_uc001ibo.3_Intron NM_152609 NP_689822 ANXA8 653145 broad.mit.edu 37 10 47058971 47058972 + Intron INS - CA CA rs144230274 2011-2348:2012-331-T g.chr10:47058971_47058972insCA uc001jed.3 - C10orf72 196740 broad.mit.edu 37 10 50313008 50313009 + Intron DEL AG - - 2011-2348:2012-331-T g.chr10:50313008_50313009delAG uc001jhf.2 - C10orf72_uc001jhh.2_Intron NM_001031746 NP_001026916 MUC5B 727897 broad.mit.edu 37 11 1160347 1160347 + Intron DEL T - - rs78703866 by1000genomes 2011-2348:2012-331-T g.chr11:1160347delT uc009ycr.1 + NM_017511 NP_059981 SHANK2 22941 broad.mit.edu 37 11 70835220 70835222 + Intron DEL TGA - - 2011-2348:2012-331-T g.chr11:70835220_70835222delTGA uc001oqc.2 - NM_012309 NP_036441 MLL2 8085 broad.mit.edu 37 12 49426485 49426486 + Frame_Shift_Ins INS - A A 2011-2348:2012-331-T g.chr12:49426485_49426486insA uc001rta.3 - 39 12002_12003 c.12002_12003insT c.(12001-12003)ATGfs p.M4001fs NM_003482 NP_003473 NCOR2 9612 broad.mit.edu 37 12 124952687 124952688 + Intron INS - CCC CCC 2011-2348:2012-331-T g.chr12:124952687_124952688insCCC uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 GALNT9 50614 broad.mit.edu 37 12 132893512 132893513 + Intron INS - CACCCTATGGAGCACGGTCC CACCCTATGGAGCACGGTCC 2011-2348:2012-331-T g.chr12:132893512_132893513insCACCCTATGGAGCACGGTCC uc001ukc.3 - GALNT9_uc009zys.2_Intron NM_001122636 NP_001116108 RB1 5925 broad.mit.edu 37 13 49034111 49034111 + Intron DEL C - - 2011-2348:2012-331-T g.chr13:49034111delC uc001vcb.2 + NM_000321 NP_000312 RB1 5925 broad.mit.edu 37 13 49034115 49034115 + Intron DEL C - - rs56388055 2011-2348:2012-331-T g.chr13:49034115delC uc001vcb.2 + NM_000321 NP_000312 RASA3 22821 broad.mit.edu 37 13 114749464 114749465 + Intron INS - TG TG rs145362368;rs66671611 2011-2348:2012-331-T g.chr13:114749464_114749465insTG uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron NM_007368 NP_031394 TRAF3 7187 broad.mit.edu 37 14 103357624 103357630 + Intron DEL CGAGGTT - - 2011-2348:2012-331-T g.chr14:103357624_103357630delCGAGGTT uc001ymc.1 + TRAF3_uc001yme.1_Intron|TRAF3_uc001ymd.1_Intron|TRAF3_uc010txy.1_Intron NM_145725 NP_663777 DPEP1 1800 broad.mit.edu 37 16 89700997 89700997 + Intron DEL T - - 2011-2348:2012-331-T g.chr16:89700997delT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 NOTCH3 4854 broad.mit.edu 37 19 15273600 15273605 + Intron DEL GTGTGC - - rs4019573;rs757473 by1000genomes 2011-2348:2012-331-T g.chr19:15273600_15273605delGTGTGC uc002nan.2 - NM_000435 NP_000426 BIN1 274 broad.mit.edu 37 2 127833331 127833332 + Intron INS - C C 2011-2348:2012-331-T g.chr2:127833331_127833332insC uc002tns.1 - BIN1_uc010yzf.1_Intron|BIN1_uc010yzg.1_Intron|BIN1_uc002tnu.1_Intron|BIN1_uc002toa.1_Intron|BIN1_uc002tnt.1_Intron|BIN1_uc002tnv.1_Intron|BIN1_uc002tnw.1_Intron|BIN1_uc002tnx.1_Intron|BIN1_uc002tny.1_Intron|BIN1_uc002tnz.1_Intron|BIN1_uc002tob.1_Intron|BIN1_uc002toc.1_Intron NM_139343 NP_647593 NFE2L2 4780 broad.mit.edu 37 2 178215773 178215774 + Intron DEL GA - - 2011-2348:2012-331-T g.chr2:178215773_178215774delGA uc002uli.3 - LOC100130691_uc002ulk.1_Intron NM_001145412 NP_001138884 TTN 7273 broad.mit.edu 37 2 179419247 179419248 + Frame_Shift_Ins INS - C C 2011-2348:2012-331-T g.chr2:179419247_179419248insC uc010zfg.1 - 281 81346_81347 c.81122_81123insG c.(81121-81123)CGAfs p.R27041fs uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Ins_p.R20736fs|TTN_uc010zfi.1_Frame_Shift_Ins_p.R20669fs|TTN_uc010zfj.1_Frame_Shift_Ins_p.R20544fs NM_133378 NP_596869 PTK6 5753 broad.mit.edu 37 20 62163515 62163516 + Intron DEL TG - - 2011-2348:2012-331-T g.chr20:62163515_62163516delTG uc002yfg.2 - PTK6_uc011aay.1_Intron|PTK6_uc011aaz.1_Intron NM_005975 NP_005966 EP300 2033 broad.mit.edu 37 22 41545113 41545114 + Frame_Shift_Ins INS - T T 2011-2348:2012-331-T g.chr22:41545113_41545114insT uc003azl.3 + 13 2708_2709 c.2313_2314insT c.(2311-2316)CCATCAfs p.P771fs NM_001429 NP_001420 SENP5 205564 broad.mit.edu 37 3 196625647 196625648 + Intron DEL TC - - 2011-2348:2012-331-T g.chr3:196625647_196625648delTC uc003fwz.3 + SENP5_uc011bty.1_Intron NM_152699 NP_689912 AHRR 57491 broad.mit.edu 37 5 344826 344827 + Intron INS - GG GG 2011-2348:2012-331-T g.chr5:344826_344827insGG uc003jav.2 + AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Intron NM_020731 NP_065782 AHRR 57491 broad.mit.edu 37 5 345451 345452 + Intron DEL AT - - rs148960070 by1000genomes 2011-2348:2012-331-T g.chr5:345451_345452delAT uc003jav.2 + AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Intron NM_020731 NP_065782 CEP72 55722 broad.mit.edu 37 5 651349 651360 + Intron DEL GACTGAGGCGTG - - rs72345438;rs67567306;rs71855444 2011-2348:2012-331-T g.chr5:651349_651360delGACTGAGGCGTG uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1071445 1071445 + Intron DEL C - - 2011-2348:2012-331-T g.chr5:1071445delC uc003jbu.2 - NM_006598 NP_006589 ADAMTS2 9509 broad.mit.edu 37 5 178650393 178650394 + Intron INS - CA CA rs145010604;rs139623797 by1000genomes 2011-2348:2012-331-T g.chr5:178650393_178650394insCA uc003mjw.2 - ADAMTS2_uc011dgm.1_Intron NM_014244 NP_055059 SYNE1 23345 broad.mit.edu 37 6 152685873 152685873 + Intron DEL A - - 2011-2348:2012-331-T g.chr6:152685873delA uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kja.1_Intron NM_182961 NP_892006 ADAP1 11033 broad.mit.edu 37 7 982994 982995 + Intron INS - AGGAT AGGAT 2011-2348:2012-331-T g.chr7:982994_982995insAGGAT uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 983010 983012 + Intron DEL GAT - - 2011-2348:2012-331-T g.chr7:983010_983012delGAT uc003sjo.3 - ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 AUTS2 26053 broad.mit.edu 37 7 69961748 69961749 + Intron INS - CACA CACA 2011-2348:2012-331-T g.chr7:69961748_69961749insCACA uc003tvw.3 + AUTS2_uc003tvx.3_Intron NM_015570 NP_056385 NACC2 138151 broad.mit.edu 37 9 138916002 138916007 + Intron DEL GTGTGT - - rs71507095 2011-2348:2012-331-T g.chr9:138916002_138916007delGTGTGT uc004cgw.2 - NACC2_uc010nbh.2_Intron NM_144653 NP_653254 OPHN1 4983 broad.mit.edu 37 X 67459062 67459062 + Intron DEL G - - rs67901004 2011-2348:2012-331-T g.chrX:67459062delG uc004dww.3 - OPHN1_uc011mpg.1_Intron|OPHN1_uc004dwx.2_Intron NM_002547 NP_002538 SYT2 127833 broad.mit.edu 37 1 202594067 202594068 + Intron INS - C C rs148638021 2011-2349:2012-299-T g.chr1:202594067_202594068insC uc001gye.2 - SYT2_uc010pqb.1_Intron|SYT2_uc009xaf.2_Intron NM_001136504 NP_001129976 CCDC6 8030 broad.mit.edu 37 10 61642309 61642313 + Intron DEL AAGGA - - 2011-2349:2012-299-T g.chr10:61642309_61642313delAAGGA uc001jks.3 - NM_005436 NP_005427 SLC22A12 116085 broad.mit.edu 37 11 64362438 64362438 + Intron DEL A - - 2011-2349:2012-299-T g.chr11:64362438delA uc001oam.1 + SLC22A12_uc009ypr.1_Intron|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.2_Intron NM_144585 NP_653186 NRXN3 9369 broad.mit.edu 37 14 80312193 80312194 + Intron DEL GG - - 2011-2349:2012-299-T g.chr14:80312193_80312194delGG uc001xun.2 + NRXN3_uc001xum.1_Intron|NRXN3_uc001xup.2_Intron|NRXN3_uc001xuq.2_Intron|NRXN3_uc010asw.2_Intron|NRXN3_uc001xur.3_Intron NM_004796 NP_004787 NRXN3 9369 broad.mit.edu 37 14 80312201 80312204 + Intron DEL GGGA - - 2011-2349:2012-299-T g.chr14:80312201_80312204delGGGA uc001xun.2 + NRXN3_uc001xum.1_Intron|NRXN3_uc001xup.2_Intron|NRXN3_uc001xuq.2_Intron|NRXN3_uc010asw.2_Intron|NRXN3_uc001xur.3_Intron NM_004796 NP_004787 RPTOR 57521 broad.mit.edu 37 17 78904191 78904196 + Intron DEL CTCATT - - rs150918221;rs62068523 by1000genomes 2011-2349:2012-299-T g.chr17:78904191_78904196delCTCATT uc002jyt.1 + RPTOR_uc010wug.1_Intron NM_020761 NP_065812 WDR45L 56270 broad.mit.edu 37 17 80597841 80597842 + Intron DEL TG - - rs113965390 2011-2349:2012-299-T g.chr17:80597841_80597842delTG uc002kfq.2 - WDR45L_uc002kfr.2_Intron NM_019613 NP_062559 TSSC1 7260 broad.mit.edu 37 2 3244747 3244747 + Intron DEL C - - 2011-2349:2012-299-T g.chr2:3244747delC uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 NFE2L2 4780 broad.mit.edu 37 2 178215940 178215941 + Intron INS - TG TG rs145437078 by1000genomes 2011-2349:2012-299-T g.chr2:178215940_178215941insTG uc002uli.3 - LOC100130691_uc002ulk.1_Intron NM_001145412 NP_001138884 EP300 2033 broad.mit.edu 37 22 41568668 41568669 + Splice_Site INS - T T 2011-2349:2012-299-T g.chr22:41568668_41568669insT uc003azl.3 + 28 5012 c.4617_splice c.e28+1 p.D1539_splice NM_001429 NP_001420 TGFBR2 7048 broad.mit.edu 37 3 30702786 30702787 + Intron DEL CT - - 2011-2349:2012-299-T g.chr3:30702786_30702787delCT uc003ceo.2 + TGFBR2_uc003cen.2_Intron NM_003242 NP_003233 SLC12A7 10723 broad.mit.edu 37 5 1071768 1071769 + Intron INS - A A 2011-2349:2012-299-T g.chr5:1071768_1071769insA uc003jbu.2 - NM_006598 NP_006589 SLC6A3 6531 broad.mit.edu 37 5 1423459 1423460 + Intron INS - G G rs368273;rs146228578 by1000genomes 2011-2349:2012-299-T g.chr5:1423459_1423460insG uc003jck.2 - NM_001044 NP_001035 ODZ2 57451 broad.mit.edu 37 5 166927066 166927067 + Intron INS - GTGT GTGT rs140219401 by1000genomes 2011-2349:2012-299-T g.chr5:166927066_166927067insGTGT uc010jjd.2 + NM_001122679 NP_001116151 IKBKAP 8518 broad.mit.edu 37 9 111663071 111663072 + Intron DEL CA - - 2011-2349:2012-299-T g.chr9:111663071_111663072delCA uc004bdm.3 - IKBKAP_uc004bdl.2_Intron|IKBKAP_uc011lwc.1_Intron|IKBKAP_uc010mtq.2_Intron NM_003640 NP_003631 IKBKAP 8518 broad.mit.edu 37 9 111663114 111663115 + Intron DEL AT - - 2011-2349:2012-299-T g.chr9:111663114_111663115delAT uc004bdm.3 - IKBKAP_uc004bdl.2_Intron|IKBKAP_uc011lwc.1_Intron|IKBKAP_uc010mtq.2_Intron NM_003640 NP_003631 OLFM1 10439 broad.mit.edu 37 9 137983637 137983638 + Intron INS - CA CA 2011-2349:2012-299-T g.chr9:137983637_137983638insCA uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfk.3_Intron|OLFM1_uc004cfm.3_Intron NM_014279 NP_055094 HSFX2 100130086 broad.mit.edu 37 X 148686970 148686973 + Intron DEL CTTT - - 2011-2349:2012-299-T g.chrX:148686970_148686973delCTTT uc004fdl.2 - HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Intron|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc011mxq.1_Intron|TMEM185A_uc004fdp.3_Intron NM_016153 NP_057237 SIGIRR 59307 broad.mit.edu 37 11 411476 411477 + Intron INS - GG GG rs59561078;rs67973639 2011-2350:2012-298-T g.chr11:411476_411477insGG uc001lpd.2 - SIGIRR_uc001lpf.2_Intron|SIGIRR_uc001lpe.1_Intron|SIGIRR_uc001lpg.2_5'Flank NM_001135054 NP_001128526 SYT1 6857 broad.mit.edu 37 12 79702391 79702392 + Intron DEL AA - - 2011-2350:2012-298-T g.chr12:79702391_79702392delAA uc001sys.2 + SYT1_uc001syt.2_Intron|SYT1_uc001syu.2_Intron|SYT1_uc001syv.2_Intron NM_001135805 NP_001129277 NXN 64359 broad.mit.edu 37 17 797119 797120 + Intron INS - T T rs66494844 2011-2350:2012-298-T g.chr17:797119_797120insT uc002fsa.2 - NXN_uc002fsb.1_Intron NM_022463 NP_071908 MPPED1 758 broad.mit.edu 37 22 43828836 43828837 + Intron INS - AA AA 2011-2350:2012-298-T g.chr22:43828836_43828837insAA uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 MPPED1 758 broad.mit.edu 37 22 43828841 43828842 + Intron INS - GG GG 2011-2350:2012-298-T g.chr22:43828841_43828842insGG uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 EPHA3 2042 broad.mit.edu 37 3 89480531 89480532 + Intron INS - T T 2011-2350:2012-298-T g.chr3:89480531_89480532insT uc003dqy.2 + EPHA3_uc010hon.1_Intron NM_005233 NP_005224 CCDC52 152185 broad.mit.edu 37 3 113177056 113177057 + Intron INS - TCTTTGCA TCTTTGCA 2011-2350:2012-298-T g.chr3:113177056_113177057insTCTTTGCA uc003eag.3 - CCDC52_uc003eaf.3_Intron|CCDC52_uc003eah.1_Intron NM_144718 NP_653319 SI 6476 broad.mit.edu 37 3 164766809 164766809 + Intron DEL C - - rs13072647 2011-2350:2012-298-T g.chr3:164766809delC uc003fei.2 - NM_001041 NP_001032 ADAP1 11033 broad.mit.edu 37 7 946150 946150 + Intron DEL A - - 2011-2350:2012-298-T g.chr7:946150delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 MCPH1 79648 broad.mit.edu 37 8 6452198 6452207 + Intron DEL CTGCAGGGGA - - rs11279825 2011-2350:2012-298-T g.chr8:6452198_6452207delCTGCAGGGGA uc003wqi.2 + NM_024596 NP_078872 SPTA1 6708 broad.mit.edu 37 1 158613927 158613927 + Intron DEL A - - rs77912388 2011-2351:2012-330-T g.chr1:158613927delA uc001fst.1 - NM_003126 NP_003117 MYO1H 283446 broad.mit.edu 37 12 109880913 109880914 + Intron INS - TG TG 2011-2351:2012-330-T g.chr12:109880913_109880914insTG uc010sxo.1 + MYO1H_uc010sxn.1_Intron COL4A2 1284 broad.mit.edu 37 13 111133880 111133880 + Intron DEL T - - rs74198691 2011-2351:2012-330-T g.chr13:111133880delT uc001vqx.2 + NM_001846 NP_001837 DPEP1 1800 broad.mit.edu 37 16 89701060 89701061 + Intron INS - T T 2011-2351:2012-330-T g.chr16:89701060_89701061insT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701066 89701066 + Intron DEL C - - 2011-2351:2012-330-T g.chr16:89701066delC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701210 89701210 + Intron DEL C - - 2011-2351:2012-330-T g.chr16:89701210delC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DLG4 1742 broad.mit.edu 37 17 7111052 7111053 + Intron DEL CA - - 2011-2351:2012-330-T g.chr17:7111052_7111053delCA uc002get.3 - DLG4_uc010vtn.1_5'Flank|DLG4_uc010cly.2_Intron|DLG4_uc010vto.1_Intron|DLG4_uc002geu.2_Intron NM_001365 NP_001356 BZRAP1 9256 broad.mit.edu 37 17 56382833 56382835 + Intron DEL GAG - - 2011-2351:2012-330-T g.chr17:56382833_56382835delGAG uc002ivx.3 - BZRAP1_uc002ivv.2_5'Flank|BZRAP1_uc002ivw.2_Intron|BZRAP1_uc010dcs.2_Intron|BZRAP1_uc010wnt.1_Intron NM_004758 NP_004749 CUL3 8452 broad.mit.edu 37 2 225368387 225368388 + Frame_Shift_Ins INS - T T 2011-2351:2012-330-T g.chr2:225368387_225368388insT uc002vny.2 - 9 1742_1743 c.1358_1359insA c.(1357-1359)AACfs p.N453fs CUL3_uc010zls.1_Frame_Shift_Ins_p.N387fs|CUL3_uc010fwy.1_Frame_Shift_Ins_p.N459fs NM_003590 NP_003581 SNPH 9751 broad.mit.edu 37 20 1258392 1258393 + Intron DEL TG - - 2011-2351:2012-330-T g.chr20:1258392_1258393delTG uc002wes.2 + SNPH_uc002wet.2_Intron NM_014723 NP_055538 LAMA5 3911 broad.mit.edu 37 20 60889012 60889013 + Intron INS - GAG GAG 2011-2351:2012-330-T g.chr20:60889012_60889013insGAG uc002ycq.2 - NM_005560 NP_005551 RIPK4 54101 broad.mit.edu 37 21 43162014 43162039 + Frame_Shift_Del DEL CCACCGCCAGGTGCAGCAGGCTGGCA - - 2011-2351:2012-330-T g.chr21:43162014_43162039delCCACCGCCAGGTGCAGCAGGCTGGCA uc002yzn.1 - 8 1362_1387 c.1314_1339delTGCCAGCCTGCTGCACCTGGCGGTGG c.(1312-1341)GGTGCCAGCCTGCTGCACCTGGCGGTGGAGfs p.G438fs NM_020639 NP_065690 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45196704 45196704 + Intron DEL C - - 2011-2351:2012-330-T g.chr22:45196704delC uc003bfd.2 + PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|ARHGAP8_uc003bfi.2_Intron|ARHGAP8_uc010gzv.2_Intron|ARHGAP8_uc003bfj.2_Intron|ARHGAP8_uc003bfk.2_Intron|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron NM_181335 NP_851852 SI 6476 broad.mit.edu 37 3 164766809 164766810 + Intron INS - T T rs13072647 2011-2351:2012-330-T g.chr3:164766809_164766810insT uc003fei.2 - NM_001041 NP_001032 PTPRN2 5799 broad.mit.edu 37 7 157981436 157981436 + Intron DEL T - - 2011-2351:2012-330-T g.chr7:157981436delT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ST18 9705 broad.mit.edu 37 8 53188704 53188705 + Intron DEL TG - - 2011-2351:2012-330-T g.chr8:53188704_53188705delTG uc003xra.2 - ST18_uc003xrb.2_Intron|ST18_uc010lyb.2_Intron NM_014682 NP_055497 ST18 9705 broad.mit.edu 37 8 53188713 53188717 + Intron DEL CGCAC - - rs116902696 by1000genomes 2011-2351:2012-330-T g.chr8:53188713_53188717delCGCAC uc003xra.2 - ST18_uc003xrb.2_Intron|ST18_uc010lyb.2_Intron NM_014682 NP_055497 ST18 9705 broad.mit.edu 37 8 53188721 53188722 + Intron INS - GG GG rs145651096 2011-2351:2012-330-T g.chr8:53188721_53188722insGG uc003xra.2 - ST18_uc003xrb.2_Intron|ST18_uc010lyb.2_Intron NM_014682 NP_055497 TTF1 7270 broad.mit.edu 37 9 135252957 135252958 + Intron INS - TGCA TGCA 2011-2351:2012-330-T g.chr9:135252957_135252958insTGCA uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 PCDH15 65217 broad.mit.edu 37 10 57298712 57298712 + Intron DEL T - - 2011-2352:2012-297-T g.chr10:57298712delT uc001jjv.1 - NM_001142770 NP_001136242 GPR133 283383 broad.mit.edu 37 12 131502472 131502473 + Intron INS - GC GC 2011-2352:2012-297-T g.chr12:131502472_131502473insGC uc001uit.3 + GPR133_uc010tbm.1_Intron NM_198827 NP_942122 RB1 5925 broad.mit.edu 37 13 49034105 49034107 + Intron DEL CTC - - rs9562824 2011-2352:2012-297-T g.chr13:49034105_49034107delCTC uc001vcb.2 + NM_000321 NP_000312 LPPR3 79948 broad.mit.edu 37 19 815456 815456 + Intron DEL G - - 2011-2352:2012-297-T g.chr19:815456delG uc002lpx.1 - LPPR3_uc010dru.1_5'Flank|LPPR3_uc002lpw.1_Intron|LPPR3_uc002lpy.1_Intron NM_024888 NP_079164 LPPR3 79948 broad.mit.edu 37 19 815467 815469 + Intron DEL CGT - - rs59458440 2011-2352:2012-297-T g.chr19:815467_815469delCGT uc002lpx.1 - LPPR3_uc010dru.1_5'Flank|LPPR3_uc002lpw.1_Intron|LPPR3_uc002lpy.1_Intron NM_024888 NP_079164 SBNO2 22904 broad.mit.edu 37 19 1164574 1164575 + Intron INS - A A 2011-2352:2012-297-T g.chr19:1164574_1164575insA uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 PPP1R12C 54776 broad.mit.edu 37 19 55608575 55608577 + Intron DEL CAC - - rs66557851 2011-2352:2012-297-T g.chr19:55608575_55608577delCAC uc002qix.2 - PPP1R12C_uc010yfs.1_Intron|PPP1R12C_uc002qiy.2_Intron NM_017607 NP_060077 COL18A1 80781 broad.mit.edu 37 21 46857234 46857235 + Intron INS - TA TA 2011-2352:2012-297-T g.chr21:46857234_46857235insTA uc002zhg.2 + NM_130445 NP_569712 UPK3A 7380 broad.mit.edu 37 22 45687073 45687074 + Intron DEL TT - - 2011-2352:2012-297-T g.chr22:45687073_45687074delTT uc003bfy.2 + UPK3A_uc010gzy.2_Intron NM_006953 NP_008884 TFRC 7037 broad.mit.edu 37 3 195809150 195809150 + 5'Flank DEL G - - 2011-2352:2012-297-T g.chr3:195809150delG uc003fvz.3 - TFRC_uc003fwa.3_5'Flank|TFRC_uc010hzy.2_5'Flank|TFRC_uc011btr.1_5'Flank NM_003234 NP_003225 GRM4 2914 broad.mit.edu 37 6 34039476 34039477 + Intron DEL AG - - 2011-2352:2012-297-T g.chr6:34039476_34039477delAG uc003oir.3 - GRM4_uc011dsn.1_Intron|GRM4_uc010jvh.2_Intron|GRM4_uc010jvi.2_Intron|GRM4_uc011dsl.1_Intron|GRM4_uc003oiq.2_Intron|GRM4_uc011dsm.1_Intron NM_000841 NP_000832 MAD1L1 8379 broad.mit.edu 37 7 1980598 1980600 + Intron DEL CCG - - rs71844593;rs74210453 2011-2352:2012-297-T g.chr7:1980598_1980600delCCG uc003slh.1 - MAD1L1_uc003sle.1_Intron|MAD1L1_uc003slf.1_Intron|MAD1L1_uc003slg.1_Intron|MAD1L1_uc010ksh.1_Intron|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Intron|MAD1L1_uc010ksj.2_Intron|MAD1L1_uc003sld.1_5'Flank NM_001013836 NP_001013858 PRKAG2 51422 broad.mit.edu 37 7 151538793 151538794 + Intron INS - AT AT rs149410279 by1000genomes 2011-2352:2012-297-T g.chr7:151538793_151538794insAT uc003wkk.2 - PRKAG2_uc010lqe.1_Intron|PRKAG2_uc003wkm.1_Intron NM_016203 NP_057287 SGCZ 137868 broad.mit.edu 37 8 14250865 14250866 + Intron INS - A A rs150765747;rs11417882 by1000genomes 2011-2352:2012-297-T g.chr8:14250865_14250866insA uc003wwq.2 - SGCZ_uc010lss.2_Intron NM_139167 NP_631906 PKHD1L1 93035 broad.mit.edu 37 8 110471797 110471797 + Intron DEL A - - rs11287370 2011-2352:2012-297-T g.chr8:110471797delA uc003yne.2 + NM_177531 NP_803875 ZNF189 7743 broad.mit.edu 37 9 104170647 104170648 + Frame_Shift_Ins INS - G G 2011-2352:2012-297-T g.chr9:104170647_104170648insG uc004bbh.1 + 3 873_874 c.597_598insG c.(595-600)ACTGGGfs p.T199fs ZNF189_uc004bbg.1_Frame_Shift_Ins_p.T157fs|ZNF189_uc004bbi.1_Frame_Shift_Ins_p.T185fs|ZNF189_uc011lvk.1_Frame_Shift_Ins_p.T184fs NM_003452 NP_003443 PRKCZ 5590 broad.mit.edu 37 1 2086728 2086730 + Intron DEL GTA - - 2011-2353:2012-296-T g.chr1:2086728_2086730delGTA uc001aiq.2 + PRKCZ_uc001air.2_Intron|PRKCZ_uc010nyw.1_Intron|PRKCZ_uc001ais.2_Intron|PRKCZ_uc009vla.2_Intron|PRKCZ_uc010nyx.1_Intron|PRKCZ_uc009vlb.2_Intron NM_002744 NP_002735 LGR6 59352 broad.mit.edu 37 1 202174232 202174237 + Intron DEL AAACAA - - rs145104147 by1000genomes 2011-2353:2012-296-T g.chr1:202174232_202174237delAAACAA uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 LHPP 64077 broad.mit.edu 37 10 126226788 126226788 + Intron DEL C - - rs66497940 2011-2353:2012-296-T g.chr10:126226788delC uc001lhs.1 + LHPP_uc001lht.1_Intron|LHPP_uc009yai.1_Intron NM_022126 NP_071409 INF2 64423 broad.mit.edu 37 14 105187368 105187368 + Intron DEL C - - 2011-2353:2012-296-T g.chr14:105187368delC uc010tyi.1 + NM_022489 NP_071934 RPTOR 57521 broad.mit.edu 37 17 78608411 78608412 + Intron INS - TGCA TGCA 2011-2353:2012-296-T g.chr17:78608411_78608412insTGCA uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 ZNF761 388561 broad.mit.edu 37 19 53959457 53959457 + Frame_Shift_Del DEL A - - 2011-2353:2012-296-T g.chr19:53959457delA uc010eqp.2 + 7 2154 c.1696delA c.(1696-1698)AAAfs p.K566fs ZNF761_uc010ydy.1_Frame_Shift_Del_p.K512fs|ZNF761_uc002qbt.1_Frame_Shift_Del_p.K512fs NM_001008401 NP_001008401 OSBPL2 9885 broad.mit.edu 37 20 60845756 60845764 + Intron DEL CCTCTCTGG - - 2011-2353:2012-296-T g.chr20:60845756_60845764delCCTCTCTGG uc002yck.1 + OSBPL2_uc002ycl.1_Intron|OSBPL2_uc011aah.1_Intron NM_144498 NP_653081 SLC12A7 10723 broad.mit.edu 37 5 1072505 1072506 + Intron INS - G G 2011-2353:2012-296-T g.chr5:1072505_1072506insG uc003jbu.2 - NM_006598 NP_006589 RNF130 55819 broad.mit.edu 37 5 179442525 179442525 + Intron DEL G - - rs66797381 2011-2353:2012-296-T g.chr5:179442525delG uc003mll.1 - RNF130_uc003mlm.1_Intron|MIR340_hsa-mir-340|MI0000802_5'Flank|uc003mln.2_5'Flank NM_018434 NP_060904 SYNE1 23345 broad.mit.edu 37 6 152552705 152552705 + Intron DEL A - - 2011-2353:2012-296-T g.chr6:152552705delA uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron NM_182961 NP_892006 PSMB1 5689 broad.mit.edu 37 6 170805289 170805291 + Intron DEL AAG - - 2011-2353:2012-296-T g.chr6:170805289_170805291delAAG uc003qxq.2 - NM_002793 PTPRN2 5799 broad.mit.edu 37 7 158233682 158233682 + Intron DEL G - - 2011-2353:2012-296-T g.chr7:158233682delG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 EXD3 54932 broad.mit.edu 37 9 140250073 140250073 + Intron DEL G - - 2011-2353:2012-296-T g.chr9:140250073delG uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron|EXD3_uc004cmq.1_Intron|EXD3_uc010ncg.1_Intron NM_017820 NP_060290 PPP2R3B 28227 broad.mit.edu 37 X 339828 339829 + Intron INS - TT TT 2011-2353:2012-296-T g.chrX:339828_339829insTT uc004cpg.2 - PPP2R3B_uc011mha.1_Intron NM_013239 NP_037371 PPP2R3B 28227 broad.mit.edu 37 X 339849 339854 + Intron DEL TGCACC - - 2011-2353:2012-296-T g.chrX:339849_339854delTGCACC uc004cpg.2 - PPP2R3B_uc011mha.1_Intron NM_013239 NP_037371 PPP2R3B 28227 broad.mit.edu 37 X 339870 339871 + Intron INS - TGTG TGTG 2011-2353:2012-296-T g.chrX:339870_339871insTGTG uc004cpg.2 - PPP2R3B_uc011mha.1_Intron NM_013239 NP_037371 AGRN 375790 broad.mit.edu 37 1 966229 966230 + Intron DEL GT - - 2011-2354:2012-295-T g.chr1:966229_966230delGT uc001ack.1 + NM_198576 NP_940978 RASGEF1A 221002 broad.mit.edu 37 10 43721024 43721025 + Intron INS - GT GT rs139307816 by1000genomes 2011-2354:2012-295-T g.chr10:43721024_43721025insGT uc001jap.1 - RASGEF1A_uc001jao.1_Intron NM_145313 NP_660356 TMEM132D 121256 broad.mit.edu 37 12 129573050 129573050 + Intron DEL A - - 2011-2354:2012-295-T g.chr12:129573050delA uc009zyl.1 - TMEM132D_uc001uia.2_5'Flank NM_133448 NP_597705 RB1 5925 broad.mit.edu 37 13 49034111 49034112 + Intron INS - CT CT 2011-2354:2012-295-T g.chr13:49034111_49034112insCT uc001vcb.2 + NM_000321 NP_000312 FUT8 2530 broad.mit.edu 37 14 65935107 65935108 + Intron INS - TT TT rs139616800 2011-2354:2012-295-T g.chr14:65935107_65935108insTT uc001xin.2 + FUT8_uc001xio.2_Intron|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_Intron|FUT8_uc001xip.2_Intron|FUT8_uc001xiq.2_Intron|MIR625_hsa-mir-625|MI0003639_5'Flank NM_178155 NP_835368 TIMM22 29928 broad.mit.edu 37 17 897591 897591 + 5'Flank DEL C - - rs71148412 2011-2354:2012-295-T g.chr17:897591delC uc002fsc.2 + NM_013337 NP_037469 LRRC37A3 374819 broad.mit.edu 37 17 62858977 62858980 + Intron DEL TACT - - 2011-2354:2012-295-T g.chr17:62858977_62858980delTACT uc002jey.2 - LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc002jex.1_Intron|LRRC37A3_uc010wqf.1_Intron|LRRC37A3_uc010dek.1_Intron NM_199340 NP_955372 SLC16A3 9123 broad.mit.edu 37 17 80218066 80218067 + Intron INS - AT AT rs67069100 2011-2354:2012-295-T g.chr17:80218066_80218067insAT uc002kee.2 + CSNK1D_uc002kef.2_Intron|CSNK1D_uc002kei.2_Intron|CSNK1D_uc002kej.2_Intron|CSNK1D_uc010wvj.1_Intron NM_004207 NP_004198 SPTBN4 57731 broad.mit.edu 37 19 41062903 41062903 + Intron DEL C - - rs34510741 2011-2354:2012-295-T g.chr19:41062903delC uc002ony.2 + SPTBN4_uc002onx.2_Intron|SPTBN4_uc002onz.2_Intron|SPTBN4_uc010egx.2_Intron|SPTBN4_uc002ooa.2_Intron NM_020971 NP_066022 FOXP1 27086 broad.mit.edu 37 3 71090490 71090490 + Frame_Shift_Del DEL G - - 2011-2354:2012-295-T g.chr3:71090490delG uc003dol.2 - 7 1181 c.858delC c.(856-858)CCCfs p.P286fs FOXP1_uc003dom.2_Frame_Shift_Del_p.P210fs|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Frame_Shift_Del_p.P286fs|FOXP1_uc003dop.2_Frame_Shift_Del_p.P286fs|FOXP1_uc003doq.1_Frame_Shift_Del_p.P285fs|FOXP1_uc003doi.2_Frame_Shift_Del_p.P186fs|FOXP1_uc003doj.2_Frame_Shift_Del_p.P186fs|FOXP1_uc003dok.2_Frame_Shift_Del_p.P99fs|FOXP1_uc003dor.1_Frame_Shift_Del_p.P64fs NM_032682 NP_116071 CHCHD6 84303 broad.mit.edu 37 3 126583894 126583896 + Intron DEL CCT - - 2011-2354:2012-295-T g.chr3:126583894_126583896delCCT uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 ADAP1 11033 broad.mit.edu 37 7 945408 945408 + Intron DEL A - - 2011-2354:2012-295-T g.chr7:945408delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PTPRN2 5799 broad.mit.edu 37 7 157524244 157524245 + Intron DEL TC - - rs71907770;rs113678305 by1000genomes 2011-2354:2012-295-T g.chr7:157524244_157524245delTC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 TTF1 7270 broad.mit.edu 37 9 135253108 135253109 + Intron INS - G G 2011-2354:2012-295-T g.chr9:135253108_135253109insG uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 TTLL10 254173 broad.mit.edu 37 1 1128149 1128151 + Intron DEL TTC - - rs61766172;rs78299231 2011-2355:2012-294-T g.chr1:1128149_1128151delTTC uc001acy.2 + TTLL10_uc010nyg.1_Intron NM_001130045 NP_001123517 PRDM16 63976 broad.mit.edu 37 1 3242476 3242476 + Intron DEL C - - rs141274558 by1000genomes 2011-2355:2012-294-T g.chr1:3242476delC uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 PRDM16 63976 broad.mit.edu 37 1 3242495 3242496 + Intron INS - C C 2011-2355:2012-294-T g.chr1:3242495_3242496insC uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 CAMTA1 23261 broad.mit.edu 37 1 7553133 7553134 + Intron DEL AG - - rs11810769 2011-2355:2012-294-T g.chr1:7553133_7553134delAG uc001aoi.2 + NM_015215 NP_056030 GRIK3 2899 broad.mit.edu 37 1 37424639 37424640 + Intron DEL TG - - 2011-2355:2012-294-T g.chr1:37424639_37424640delTG uc001caz.2 - GRIK3_uc001cba.1_Intron NM_000831 NP_000822 GUCA2A 2980 broad.mit.edu 37 1 42632492 42632493 + 5'Flank DEL GT - - 2011-2355:2012-294-T g.chr1:42632492_42632493delGT uc001chd.1 - NM_033553 NP_291031 GUCA2A 2980 broad.mit.edu 37 1 42633114 42633115 + 5'Flank INS - TGAGG TGAGG rs150434346;rs138148984 by1000genomes 2011-2355:2012-294-T g.chr1:42633114_42633115insTGAGG uc001chd.1 - NM_033553 NP_291031 FLG 2312 broad.mit.edu 37 1 152277308 152277311 + Frame_Shift_Del DEL TGTC - - rs34687484 byFrequency 2011-2355:2012-294-T g.chr1:152277308_152277311delTGTC uc001ezu.1 - 3 10087_10090 c.10051_10054delGACA c.(10051-10056)GACACAfs p.D3351fs NM_002016 NP_002007 DENND4B 9909 broad.mit.edu 37 1 153907304 153907306 + In_Frame_Del DEL TGT - - rs35902206;rs12567786 by1000genomes 2011-2355:2012-294-T g.chr1:153907304_153907306delTGT uc001fdd.1 - 18 3104_3106 c.2703_2705delACA c.(2701-2706)CAACAG>CAG p.901_902QQ>Q uc001fdc.1_RNA NM_014856 NP_055671 DENND4B 9909 broad.mit.edu 37 1 153907305 153907306 + Frame_Shift_Ins INS - C C rs35902206;rs12567786 by1000genomes 2011-2355:2012-294-T g.chr1:153907305_153907306insC uc001fdd.1 - 18 3104_3105 c.2703_2704insG c.(2701-2706)CAACAGfs p.Q901fs uc001fdc.1_RNA NM_014856 NP_055671 DENND4B 9909 broad.mit.edu 37 1 153907306 153907307 + Frame_Shift_Ins INS - GC GC rs12567786;rs66739466 by1000genomes 2011-2355:2012-294-T g.chr1:153907306_153907307insGC uc001fdd.1 - 18 3103_3104 c.2702_2703insGC c.(2701-2703)CAAfs p.Q901fs uc001fdc.1_RNA NM_014856 NP_055671 NOS1AP 9722 broad.mit.edu 37 1 162332218 162332225 + Intron DEL GTGACAGA - - rs11277545;rs60162928 2011-2355:2012-294-T g.chr1:162332218_162332225delGTGACAGA uc001gbv.2 + NOS1AP_uc010pks.1_Intron|NOS1AP_uc001gbw.2_Intron|NOS1AP_uc009wut.1_5'Flank NM_014697 NP_055512 NOS1AP 9722 broad.mit.edu 37 1 162332266 162332270 + Intron DEL AAAGA - - rs10550168 2011-2355:2012-294-T g.chr1:162332266_162332270delAAAGA uc001gbv.2 + NOS1AP_uc010pks.1_Intron|NOS1AP_uc001gbw.2_Intron|NOS1AP_uc009wut.1_5'Flank NM_014697 NP_055512 DISC1 27185 broad.mit.edu 37 1 232173718 232173721 + 3'UTR DEL AGTA - - rs71927075;rs71162209 2011-2355:2012-294-T g.chr1:232173718_232173721delAGTA uc001huz.2 + 13 DISC1_uc001hva.2_3'UTR NM_018662 NP_061132 ADARB2 105 broad.mit.edu 37 10 1711883 1711884 + Intron INS - AC AC 2011-2355:2012-294-T g.chr10:1711883_1711884insAC uc009xhq.2 - NM_018702 NP_061172 TUBGCP2 10844 broad.mit.edu 37 10 135094371 135094373 + Intron DEL GGG - - rs74164135 2011-2355:2012-294-T g.chr10:135094371_135094373delGGG uc001lmg.1 - TUBGCP2_uc001lmf.1_Intron|TUBGCP2_uc010qvc.1_Intron|TUBGCP2_uc009ybk.1_Intron|TUBGCP2_uc010qvd.1_Intron|TUBGCP2_uc001lmh.1_Intron NM_006659 NP_006650 RNH1 6050 broad.mit.edu 37 11 497647 497648 + Intron INS - CTCA CTCA rs149085487 by1000genomes 2011-2355:2012-294-T g.chr11:497647_497648insCTCA uc001lpk.1 - RNH1_uc001lpl.1_Intron|RNH1_uc001lpm.1_Intron|RNH1_uc001lpn.1_Intron|RNH1_uc001lpo.1_Intron|RNH1_uc009ybw.1_Intron|RNH1_uc001lpp.1_Intron|RNH1_uc001lpt.1_Intron|RNH1_uc001lpq.1_Intron|RNH1_uc001lpr.1_Intron|RNH1_uc001lps.1_Intron NM_203389 NP_976323 DKK3 27122 broad.mit.edu 37 11 12000048 12000048 + Intron DEL T - - rs28510652 2011-2355:2012-294-T g.chr11:12000048delT uc001mju.2 - DKK3_uc010rcf.1_Intron|DKK3_uc001mjv.2_Intron|DKK3_uc001mjw.2_Intron|DKK3_uc010rcg.1_Intron NM_001018057 NP_001018067 SLC22A12 116085 broad.mit.edu 37 11 64363529 64363532 + Intron DEL GATG - - 2011-2355:2012-294-T g.chr11:64363529_64363532delGATG uc001oam.1 + SLC22A12_uc009ypr.1_Intron|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.2_Intron NM_144585 NP_653186 CACNA2D4 93589 broad.mit.edu 37 12 1980306 1980307 + Intron DEL GT - - 2011-2355:2012-294-T g.chr12:1980306_1980307delGT uc001qjp.2 - CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron NM_172364 NP_758952 SYT1 6857 broad.mit.edu 37 12 79702391 79702392 + Intron DEL AA - - 2011-2355:2012-294-T g.chr12:79702391_79702392delAA uc001sys.2 + SYT1_uc001syt.2_Intron|SYT1_uc001syu.2_Intron|SYT1_uc001syv.2_Intron NM_001135805 NP_001129277 KSR2 283455 broad.mit.edu 37 12 118231963 118231964 + Intron DEL AT - - 2011-2355:2012-294-T g.chr12:118231963_118231964delAT uc001two.2 - NM_173598 NP_775869 TMEM132D 121256 broad.mit.edu 37 12 129988543 129988544 + Intron INS - TCA TCA rs141085342;rs149583103 2011-2355:2012-294-T g.chr12:129988543_129988544insTCA uc009zyl.1 - NM_133448 NP_597705 IL17D 53342 broad.mit.edu 37 13 21292810 21292813 + Intron DEL CACA - - 2011-2355:2012-294-T g.chr13:21292810_21292813delCACA uc001unm.2 + NM_138284 NP_612141 RB1 5925 broad.mit.edu 37 13 49034111 49034111 + Intron DEL C - - 2011-2355:2012-294-T g.chr13:49034111delC uc001vcb.2 + NM_000321 NP_000312 RB1 5925 broad.mit.edu 37 13 49034115 49034115 + Intron DEL C - - rs56388055 2011-2355:2012-294-T g.chr13:49034115delC uc001vcb.2 + NM_000321 NP_000312 GRTP1 79774 broad.mit.edu 37 13 114004774 114004775 + Intron INS - C C rs141598085 by1000genomes 2011-2355:2012-294-T g.chr13:114004774_114004775insC uc001vtn.2 - GRTP1_uc010tkb.1_Intron|GRTP1_uc010tkc.1_Intron NM_024719 NP_078995 PAX9 5083 broad.mit.edu 37 14 37126871 37126872 + 5'UTR INS - C C rs138135767;rs66881397 by1000genomes 2011-2355:2012-294-T g.chr14:37126871_37126872insC uc001wty.3 + 1 NM_006194 NP_006185 TRIP11 9321 broad.mit.edu 37 14 92487750 92487750 + Intron DEL G - - 2011-2355:2012-294-T g.chr14:92487750delG uc001xzy.2 - NM_004239 NP_004230 INF2 64423 broad.mit.edu 37 14 105242417 105242418 + Intron INS - C C rs143493410 by1000genomes 2011-2355:2012-294-T g.chr14:105242417_105242418insC uc010tyi.1 + AKT1_uc001ypk.2_Intron|AKT1_uc001ypl.2_Intron|AKT1_uc010axa.2_Intron|AKT1_uc001ypm.2_Intron|AKT1_uc001ypn.2_Intron|AKT1_uc010tyk.1_Intron NM_022489 NP_071934 CMIP 80790 broad.mit.edu 37 16 81702528 81702529 + Intron DEL CT - - 2011-2355:2012-294-T g.chr16:81702528_81702529delCT uc002fgp.2 + CMIP_uc002fgq.1_Intron|CMIP_uc010vnq.1_Intron|CMIP_uc002fgr.1_Intron NM_198390 NP_938204 CHMP1A 5119 broad.mit.edu 37 16 89721844 89721845 + Intron INS - C C 2011-2355:2012-294-T g.chr16:89721844_89721845insC uc002fnu.2 - CHMP1A_uc002fnv.2_Intron|C16orf55_uc002fnw.1_5'Flank|C16orf55_uc002fnx.3_5'Flank|C16orf55_uc010vpk.1_5'Flank|C16orf55_uc002fny.1_5'Flank NM_002768 NP_002759 TCF25 22980 broad.mit.edu 37 16 89951209 89951210 + Intron INS - C C 2011-2355:2012-294-T g.chr16:89951209_89951210insC uc002fpb.2 + TCF25_uc002fpc.2_Intron NM_014972 NP_055787 MC1R 4157 broad.mit.edu 37 16 89981346 89981347 + 5'Flank DEL TG - - 2011-2355:2012-294-T g.chr16:89981346_89981347delTG uc002fpe.3 + uc010ciy.1_RNA NM_002386 NP_002377 RPH3AL 9501 broad.mit.edu 37 17 136759 136760 + Intron DEL CT - - 2011-2355:2012-294-T g.chr17:136759_136760delCT uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 SLC39A11 201266 broad.mit.edu 37 17 70779264 70779266 + Intron DEL GAT - - rs36103922 2011-2355:2012-294-T g.chr17:70779264_70779266delGAT uc002jjb.2 - SLC39A11_uc002jja.2_Intron NM_001159770 NP_001153242 B3GNTL1 146712 broad.mit.edu 37 17 80941969 80941970 + Intron INS - G G rs145189579 by1000genomes 2011-2355:2012-294-T g.chr17:80941969_80941970insG uc002kgg.1 - B3GNTL1_uc002kgf.1_Intron|B3GNTL1_uc002kge.1_Intron NM_001009905 NP_001009905 B3GNTL1 146712 broad.mit.edu 37 17 81008681 81008683 + Intron DEL GGA - - rs10609454 2011-2355:2012-294-T g.chr17:81008681_81008683delGGA uc002kgg.1 - B3GNTL1_uc002kgf.1_5'Flank NM_001009905 NP_001009905 TNNI3 7137 broad.mit.edu 37 19 55663540 55663541 + Intron DEL TC - - rs72301544;rs56007758 2011-2355:2012-294-T g.chr19:55663540_55663541delTC uc002qjg.3 - TNNT1_uc002qjb.3_5'Flank|TNNT1_uc002qjc.3_5'Flank|TNNT1_uc002qje.3_5'Flank|TNNT1_uc002qjd.3_5'Flank|TNNT1_uc002qjf.2_5'Flank|TNNI3_uc010yft.1_Intron NM_000363 NP_000354 PXDN 7837 broad.mit.edu 37 2 1683594 1683595 + Intron DEL GT - - 2011-2355:2012-294-T g.chr2:1683594_1683595delGT uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 CYS1 192668 broad.mit.edu 37 2 10213201 10213201 + Intron DEL G - - rs111765581 2011-2355:2012-294-T g.chr2:10213201delG uc002rag.2 - NM_001037160 NP_001032237 CLASP1 23332 broad.mit.edu 37 2 122368198 122368199 + Intron INS - GGA GGA rs148306674 by1000genomes 2011-2355:2012-294-T g.chr2:122368198_122368199insGGA uc002tnc.2 - CLASP1_uc010yyz.1_Intron|CLASP1_uc010yza.1_Intron|CLASP1_uc010yzb.1_Intron|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tng.1_Intron NM_015282 NP_056097 LRP1B 53353 broad.mit.edu 37 2 141299227 141299227 + Intron DEL C - - 2011-2355:2012-294-T g.chr2:141299227delC uc002tvj.1 - NM_018557 NP_061027 CASP8 841 broad.mit.edu 37 2 202149392 202149394 + Intron DEL GGG - - rs142003924 by1000genomes 2011-2355:2012-294-T g.chr2:202149392_202149394delGGG uc002uxr.1 + CASP8_uc002uxp.1_Intron|CASP8_uc002uxq.1_Intron|CASP8_uc002uxt.1_Intron|CASP8_uc002uxu.1_Intron|CASP8_uc002uxw.1_Intron|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Intron NM_033355 NP_203519 SPAG16 79582 broad.mit.edu 37 2 214272618 214272621 + Intron DEL AGAC - - rs138394422 2011-2355:2012-294-T g.chr2:214272618_214272621delAGAC uc002veq.2 + SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Intron|SPAG16_uc010zjk.1_Intron NM_024532 NP_078808 CUL3 8452 broad.mit.edu 37 2 225378502 225378502 + Intron DEL G - - rs3215058 2011-2355:2012-294-T g.chr2:225378502delG uc002vny.2 - CUL3_uc010zls.1_Intron|CUL3_uc010fwy.1_Intron NM_003590 NP_003581 UGT1A5 54579 broad.mit.edu 37 2 234633926 234633928 + Intron DEL GCA - - rs55679336 2011-2355:2012-294-T g.chr2:234633926_234633928delGCA uc002vuw.2 + UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron NM_019078 NP_061951 AGAP1 116987 broad.mit.edu 37 2 236711374 236711375 + Intron INS - TGA TGA 2011-2355:2012-294-T g.chr2:236711374_236711375insTGA uc002vvs.2 + AGAP1_uc002vvt.2_Intron NM_001037131 NP_001032208 AGAP1 116987 broad.mit.edu 37 2 236711382 236711383 + Intron INS - GTG GTG 2011-2355:2012-294-T g.chr2:236711382_236711383insGTG uc002vvs.2 + AGAP1_uc002vvt.2_Intron NM_001037131 NP_001032208 RSPH1 89765 broad.mit.edu 37 21 43897121 43897121 + Intron DEL A - - rs60974545 2011-2355:2012-294-T g.chr21:43897121delA uc002zbg.2 - NM_080860 NP_543136 COL6A1 1291 broad.mit.edu 37 21 47400844 47400845 + 5'Flank DEL TC - - rs142610988 2011-2355:2012-294-T g.chr21:47400844_47400845delTC uc002zhu.1 + NM_001848 NP_001839 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45197183 45197184 + Intron INS - A A rs71188487 2011-2355:2012-294-T g.chr22:45197183_45197184insA uc003bfd.2 + PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|ARHGAP8_uc003bfi.2_Intron|ARHGAP8_uc010gzv.2_Intron|ARHGAP8_uc003bfj.2_Intron|ARHGAP8_uc003bfk.2_Intron|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron NM_181335 NP_851852 FAM19A5 25817 broad.mit.edu 37 22 48930004 48930005 + Intron INS - G G rs147079066 by1000genomes 2011-2355:2012-294-T g.chr22:48930004_48930005insG uc003bim.3 + NM_001082967 NP_001076436 FANCD2 2177 broad.mit.edu 37 3 10068428 10068437 + Intron DEL CCAGATGGTA - - rs3846170;rs3846171;rs3846172;rs3846173;rs3846175;rs3846176 2011-2355:2012-294-T g.chr3:10068428_10068437delCCAGATGGTA uc003buw.2 + CIDEC_uc003bto.2_5'Flank|FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|CIDECP_uc003bus.2_5'Flank|CIDECP_uc003but.2_5'Flank|CIDECP_uc003buu.1_5'Flank|FANCD2_uc003buv.2_Intron NM_033084 NP_149075 EPHA3 2042 broad.mit.edu 37 3 89521832 89521836 + Intron DEL GAAAG - - 2011-2355:2012-294-T g.chr3:89521832_89521836delGAAAG uc003dqy.2 + EPHA3_uc010hon.1_Intron NM_005233 NP_005224 EPHA3 2042 broad.mit.edu 37 3 89521839 89521841 + Intron DEL TTG - - 2011-2355:2012-294-T g.chr3:89521839_89521841delTTG uc003dqy.2 + EPHA3_uc010hon.1_Intron NM_005233 NP_005224 CHCHD6 84303 broad.mit.edu 37 3 126583849 126583850 + Intron INS - CCA CCA 2011-2355:2012-294-T g.chr3:126583849_126583850insCCA uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 IFT122 55764 broad.mit.edu 37 3 129235063 129235066 + Intron DEL CACA - - 2011-2355:2012-294-T g.chr3:129235063_129235066delCACA uc003emm.2 + IFT122_uc003eml.2_Intron|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Intron|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Intron NM_052989 NP_443715 TP63 8626 broad.mit.edu 37 3 189348969 189348973 + 5'Flank DEL CTCCA - - rs76937731 2011-2355:2012-294-T g.chr3:189348969_189348973delCTCCA uc003fry.2 + TP63_uc003frx.2_5'Flank|TP63_uc003frz.2_5'Flank|TP63_uc010hzc.1_5'Flank NM_003722 NP_003713 PDE6B 5158 broad.mit.edu 37 4 616419 616420 + 5'Flank INS - AT AT rs137887967;rs72501955 by1000genomes 2011-2355:2012-294-T g.chr4:616419_616420insAT uc003gap.2 + PDE6B_uc003gao.3_5'Flank NM_000283 NP_000274 PDE6B 5158 broad.mit.edu 37 4 616642 616643 + 5'Flank DEL AT - - rs34143738 2011-2355:2012-294-T g.chr4:616642_616643delAT uc003gap.2 + PDE6B_uc003gao.3_5'Flank NM_000283 NP_000274 GAK 2580 broad.mit.edu 37 4 907700 907701 + Intron DEL CA - - 2011-2355:2012-294-T g.chr4:907700_907701delCA uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_Intron|GAK_uc003gbl.3_5'Flank NM_005255 NP_005246 DOK7 285489 broad.mit.edu 37 4 3470264 3470267 + Intron DEL TGTA - - 2011-2355:2012-294-T g.chr4:3470264_3470267delTGTA uc003ghd.2 + DOK7_uc003ghe.2_Intron NM_173660 NP_775931 DOK7 285489 broad.mit.edu 37 4 3470382 3470385 + Intron DEL TGAG - - 2011-2355:2012-294-T g.chr4:3470382_3470385delTGAG uc003ghd.2 + DOK7_uc003ghe.2_Intron NM_173660 NP_775931 JAKMIP1 152789 broad.mit.edu 37 4 6172803 6172803 + Intron DEL C - - rs149182941 2011-2355:2012-294-T g.chr4:6172803delC uc003giu.3 - JAKMIP1_uc010idb.1_Intron|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Intron|JAKMIP1_uc010ide.2_Intron NM_144720 NP_653321 SORCS2 57537 broad.mit.edu 37 4 7726206 7726207 + Intron INS - AT AT rs147164731 2011-2355:2012-294-T g.chr4:7726206_7726207insAT uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 SORCS2 57537 broad.mit.edu 37 4 7726207 7726208 + Intron INS - A A rs147164731 2011-2355:2012-294-T g.chr4:7726207_7726208insA uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 SH3TC1 54436 broad.mit.edu 37 4 8241157 8241158 + Intron INS - CA CA rs145892605;rs137987746 by1000genomes 2011-2355:2012-294-T g.chr4:8241157_8241158insCA uc003gkv.3 + SH3TC1_uc003gkw.3_Intron|SH3TC1_uc003gkx.3_Intron|SH3TC1_uc003gky.2_Intron NM_018986 NP_061859 FAT4 79633 broad.mit.edu 37 4 126411022 126411024 + Intron DEL TTG - - 2011-2355:2012-294-T g.chr4:126411022_126411024delTTG uc003ifj.3 + FAT4_uc011cgp.1_Intron|FAT4_uc003ifi.1_Intron NM_024582 NP_078858 INPP4B 8821 broad.mit.edu 37 4 143768417 143768420 + 5'Flank DEL TGAA - - rs77418105 2011-2355:2012-294-T g.chr4:143768417_143768420delTGAA uc003iix.3 - INPP4B_uc003iiw.3_5'Flank NM_003866 NP_003857 SORBS2 8470 broad.mit.edu 37 4 186749016 186749018 + Intron DEL CAT - - 2011-2355:2012-294-T g.chr4:186749016_186749018delCAT uc003iyl.2 - SORBS2_uc003iym.2_Intron|SORBS2_uc011cky.1_Intron NM_021069 NP_066547 CLPTM1L 81037 broad.mit.edu 37 5 1333617 1333617 + Intron DEL G - - rs74203463 2011-2355:2012-294-T g.chr5:1333617delG uc003jch.2 - CLPTM1L_uc003jcg.2_Intron NM_030782 NP_110409 CDH12 1010 broad.mit.edu 37 5 22212770 22212782 + Translation_Start_Site DEL TCAGCTGAAATCC - - 2011-2355:2012-294-T g.chr5:22212770_22212782delTCAGCTGAAATCC uc010iuc.2 - 1 97_109 c.-361_-349delGGATTTCAGCTGA c.(-363--347)GAGGATTTCAGCTGATG>GATG CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Intron NM_004061 NP_004052 SQSTM1 8878 broad.mit.edu 37 5 179238393 179238393 + Intron DEL T - - rs145068652 by1000genomes 2011-2355:2012-294-T g.chr5:179238393delT uc011dgr.1 + SQSTM1_uc011dgs.1_Intron|SQSTM1_uc003mkt.1_Intron NM_001142298 NP_001135770 HLA-G 3135 broad.mit.edu 37 6 29893550 29893553 + Intron DEL AAAC - - rs145760005;rs1611433 2011-2355:2012-294-T g.chr6:29893550_29893553delAAAC uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HCG4P6_uc003noh.1_5'Flank|uc003noi.2_5'Flank NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29908929 29908930 + Intron DEL AC - - rs67901303 2011-2355:2012-294-T g.chr6:29908929_29908930delAC uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'Flank|HLA-A_uc003nok.2_5'Flank|HLA-A_uc003nol.2_5'Flank|HLA-A_uc003non.2_5'Flank|HLA-A_uc003noo.2_5'Flank|HLA-A_uc010jrr.2_5'Flank|HLA-A_uc003nom.2_5'Flank|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank NM_002127 NP_002118 PRIM2 5558 broad.mit.edu 37 6 57339798 57339798 + Intron DEL C - - rs72200125 2011-2355:2012-294-T g.chr6:57339798delC uc003pdx.2 + NM_000947 NP_000938 SYNE1 23345 broad.mit.edu 37 6 152489647 152489649 + Intron DEL AAC - - rs71899550 2011-2355:2012-294-T g.chr6:152489647_152489649delAAC uc010kiw.2 - SYNE1_uc010kiv.2_Intron|SYNE1_uc003qos.3_Intron|SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc003qop.3_Intron|SYNE1_uc011eez.1_Intron|SYNE1_uc003qoq.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152786895 152786896 + Intron INS - AC AC rs113781129 2011-2355:2012-294-T g.chr6:152786895_152786896insAC uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qpa.1_Intron|SYNE1_uc003qow.2_5'Flank|SYNE1_uc003qox.1_Intron|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Intron NM_182961 NP_892006 PACRG 135138 broad.mit.edu 37 6 163268044 163268044 + Intron DEL A - - 2011-2355:2012-294-T g.chr6:163268044delA uc003qua.2 + PACRG_uc003qub.2_Intron|PACRG_uc003quc.2_Intron NM_152410 NP_689623 SMOC2 64094 broad.mit.edu 37 6 169025553 169025554 + Intron DEL AC - - 2011-2355:2012-294-T g.chr6:169025553_169025554delAC uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_Intron NM_022138 NP_071421 ADAP1 11033 broad.mit.edu 37 7 945259 945260 + Intron INS - A A rs145893866 2011-2355:2012-294-T g.chr7:945259_945260insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ETV1 2115 broad.mit.edu 37 7 14029660 14029660 + 5'Flank DEL T - - 2011-2355:2012-294-T g.chr7:14029660delT uc011jxq.1 - ETV1_uc003ssw.3_5'Flank|ETV1_uc003ssx.2_Intron|ETV1_uc011jxr.1_Intron|ETV1_uc011jxs.1_Intron NM_004956 NP_004947 PCLO 27445 broad.mit.edu 37 7 82430822 82430823 + Intron INS - T T 2011-2355:2012-294-T g.chr7:82430822_82430823insT uc003uhx.2 - NM_033026 NP_149015 PTPRN2 5799 broad.mit.edu 37 7 157777089 157777090 + Intron INS - AT AT rs67724246;rs72141606 2011-2355:2012-294-T g.chr7:157777089_157777090insAT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157864850 157864851 + Intron INS - C C rs150537994 by1000genomes 2011-2355:2012-294-T g.chr7:157864850_157864851insC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc003wnt.1_5'Flank NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158055573 158055576 + Intron DEL ACAT - - rs72440195 2011-2355:2012-294-T g.chr7:158055573_158055576delACAT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ARHGEF10 9639 broad.mit.edu 37 8 1781024 1781025 + Intron DEL AG - - rs149614002 by1000genomes 2011-2355:2012-294-T g.chr8:1781024_1781025delAG uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 CSMD1 64478 broad.mit.edu 37 8 3509639 3509640 + Intron INS - ACC ACC rs141532900;rs66939370 by1000genomes 2011-2355:2012-294-T g.chr8:3509639_3509640insACC uc011kwk.1 - NM_033225 NP_150094 POMT1 10585 broad.mit.edu 37 9 134391120 134391121 + Intron INS - AC AC rs111320093 2011-2355:2012-294-T g.chr9:134391120_134391121insAC uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 C9orf171 389799 broad.mit.edu 37 9 135418907 135418907 + Intron DEL A - - rs113401480 2011-2355:2012-294-T g.chr9:135418907delA uc004cbn.2 + C9orf171_uc004cbo.2_Intron NM_207417 NP_997300 TSC1 7248 broad.mit.edu 37 9 135780007 135780013 + Intron DEL ACACTGG - - rs142817620;rs143481199 2011-2355:2012-294-T g.chr9:135780007_135780013delACACTGG uc004cca.2 - TSC1_uc004ccb.3_Intron|TSC1_uc011mcq.1_Intron|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 EXD3 54932 broad.mit.edu 37 9 140250145 140250145 + Intron DEL G - - 2011-2355:2012-294-T g.chr9:140250145delG uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron|EXD3_uc004cmq.1_Intron|EXD3_uc010ncg.1_Intron NM_017820 NP_060290 CSDE1 7812 broad.mit.edu 37 1 115259932 115259933 + 3'UTR INS - T T 2011-2356:2012-293-T g.chr1:115259932_115259933insT uc001efk.2 - 20 NRAS_uc009wgu.2_5'Flank|CSDE1_uc001efi.2_3'UTR|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_3'UTR|CSDE1_uc001efm.2_3'UTR|CSDE1_uc009wgv.2_3'UTR|CSDE1_uc001efn.2_3'UTR NM_001007553 NP_001007554 LGR6 59352 broad.mit.edu 37 1 202175075 202175076 + Intron DEL AC - - 2011-2356:2012-293-T g.chr1:202175075_202175076delAC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 CCDC6 8030 broad.mit.edu 37 10 61641921 61641921 + Intron DEL G - - rs67028863 2011-2356:2012-293-T g.chr10:61641921delG uc001jks.3 - NM_005436 NP_005427 ZNF195 7748 broad.mit.edu 37 11 3393805 3393806 + Intron INS - AAAT AAAT 2011-2356:2012-293-T g.chr11:3393805_3393806insAAAT uc001lxt.2 - ZNF195_uc001lxv.2_Intron|ZNF195_uc001lxs.2_Intron|ZNF195_uc010qxr.1_Intron|ZNF195_uc009ydz.2_Intron|ZNF195_uc001lxu.2_Intron NM_001130520 NP_001123992 KRT8 3856 broad.mit.edu 37 12 53311761 53311761 + Intron DEL A - - 2011-2356:2012-293-T g.chr12:53311761delA uc009zmk.1 - KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron NM_002273 NP_002264 FAM101A 144347 broad.mit.edu 37 12 124787346 124787347 + Intron INS - A A 2011-2356:2012-293-T g.chr12:124787346_124787347insA uc001ugd.1 + FAM101A_uc001uge.1_Intron NM_181709 NP_859060 C20orf26 26074 broad.mit.edu 37 20 20336109 20336110 + Intron INS - TG TG 2011-2356:2012-293-T g.chr20:20336109_20336110insTG uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 SRC 6714 broad.mit.edu 37 20 35990230 35990237 + Intron DEL GTAGAGAT - - rs112316453;rs66592675 2011-2356:2012-293-T g.chr20:35990230_35990237delGTAGAGAT uc002xgx.2 + SRC_uc002xgy.2_Intron NM_005417 NP_005408 HERC3 8916 broad.mit.edu 37 4 89620124 89620125 + Intron INS - C C rs137990789;rs66939344 by1000genomes 2011-2356:2012-293-T g.chr4:89620124_89620125insC uc003hrw.1 + HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron|NAP1L5_uc003hrx.2_5'Flank NM_014606 NP_055421 SLC12A7 10723 broad.mit.edu 37 5 1073356 1073356 + Intron DEL G - - rs76407533 2011-2356:2012-293-T g.chr5:1073356delG uc003jbu.2 - NM_006598 NP_006589 DPP6 1804 broad.mit.edu 37 7 154675717 154675718 + Intron DEL CA - - rs147260123 2011-2356:2012-293-T g.chr7:154675717_154675718delCA uc003wlk.2 + DPP6_uc003wli.2_Intron|DPP6_uc003wlm.2_Intron|DPP6_uc011kvq.1_Intron NM_130797 NP_570629 ERICH1 157697 broad.mit.edu 37 8 626446 626446 + Intron DEL G - - 2011-2356:2012-293-T g.chr8:626446delG uc003wph.2 - ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron|ERICH1_uc003wpi.2_5'Flank NM_207332 NP_997215 PKHD1L1 93035 broad.mit.edu 37 8 110456778 110456778 + Intron DEL A - - rs35472310 2011-2356:2012-293-T g.chr8:110456778delA uc003yne.2 + NM_177531 NP_803875 SLC45A4 57210 broad.mit.edu 37 8 142262599 142262600 + Intron DEL TG - - rs68094974 2011-2356:2012-293-T g.chr8:142262599_142262600delTG uc010meq.1 - COL5A1 1289 broad.mit.edu 37 9 137576884 137576884 + Intron DEL C - - 2011-2356:2012-293-T g.chr9:137576884delC uc004cfe.2 + NM_000093 NP_000084 LGR6 59352 broad.mit.edu 37 1 202174770 202174771 + Intron DEL AC - - rs67852097 2011-2357:2012-292-T g.chr1:202174770_202174771delAC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 KIAA1274 27143 broad.mit.edu 37 10 72299895 72299895 + Intron DEL G - - 2011-2357:2012-292-T g.chr10:72299895delG uc001jrd.3 + KIAA1274_uc001jre.3_Intron NM_014431 NP_055246 LRRC27 80313 broad.mit.edu 37 10 134178143 134178143 + Intron DEL A - - 2011-2357:2012-292-T g.chr10:134178143delA uc010quw.1 + LRRC27_uc001llg.2_Intron|LRRC27_uc001lli.2_Intron|LRRC27_uc001llj.2_Intron|LRRC27_uc001llk.3_Intron NM_030626 NP_085129 KCNG2 26251 broad.mit.edu 37 18 77625521 77625522 + Intron INS - GA GA 2011-2357:2012-292-T g.chr18:77625521_77625522insGA uc010xfl.1 + NM_012283 NP_036415 TSSC1 7260 broad.mit.edu 37 2 3298716 3298717 + Intron INS - AC AC rs140288126;rs68054696 by1000genomes 2011-2357:2012-292-T g.chr2:3298716_3298717insAC uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 CXADR 1525 broad.mit.edu 37 21 18934470 18934471 + Intron INS - A A rs140833286;rs67334861 by1000genomes 2011-2357:2012-292-T g.chr21:18934470_18934471insA uc002yki.2 + CXADR_uc002ykh.1_Intron|CXADR_uc010gld.1_Intron|CXADR_uc010gle.1_Intron|CXADR_uc002ykj.1_Intron NM_001338 NP_001329 DSCAM 1826 broad.mit.edu 37 21 41658726 41658727 + Intron DEL TG - - 2011-2357:2012-292-T g.chr21:41658726_41658727delTG uc002yyq.1 - DSCAM_uc002yyr.1_Intron NM_001389 NP_001380 RAC2 5880 broad.mit.edu 37 22 37640084 37640091 + Intron DEL GGGCACCA - - 2011-2357:2012-292-T g.chr22:37640084_37640091delGGGCACCA uc003arc.2 - NM_002872 NP_002863 SLC6A18 348932 broad.mit.edu 37 5 1238493 1238494 + Intron INS - A A 2011-2357:2012-292-T g.chr5:1238493_1238494insA uc003jby.1 + NM_182632 NP_872438 ODZ2 57451 broad.mit.edu 37 5 166854778 166854786 + Intron DEL GGGAAGGAA - - rs13185808 by1000genomes 2011-2357:2012-292-T g.chr5:166854778_166854786delGGGAAGGAA uc010jjd.2 + NM_001122679 NP_001116151 ADCY8 114 broad.mit.edu 37 8 131922186 131922187 + Intron INS - T T rs141559339 2011-2357:2012-292-T g.chr8:131922186_131922187insT uc003ytd.3 - ADCY8_uc010mds.2_Intron NM_001115 NP_001106 OPHN1 4983 broad.mit.edu 37 X 67459062 67459062 + Intron DEL G - - rs67901004 2011-2357:2012-292-T g.chrX:67459062delG uc004dww.3 - OPHN1_uc011mpg.1_Intron|OPHN1_uc004dwx.2_Intron NM_002547 NP_002538 ITIH5 80760 broad.mit.edu 37 10 7670792 7670793 + Intron DEL GT - - 2011-2358:2012-1325-T g.chr10:7670792_7670793delGT uc001ijq.2 - ITIH5_uc001ijr.1_Intron NM_030569 NP_085046 SNTG2 54221 broad.mit.edu 37 2 960889 960890 + Intron INS - T T rs67602909 2011-2358:2012-1325-T g.chr2:960889_960890insT uc002qwq.2 + SNTG2_uc002qwp.2_Intron|SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 CASP8 841 broad.mit.edu 37 2 202124700 202124701 + Intron INS - T T 2011-2358:2012-1325-T g.chr2:202124700_202124701insT uc002uxr.1 + CASP8_uc010ftc.1_Intron|CASP8_uc002uxo.1_Intron|CASP8_uc002uxp.1_Intron|CASP8_uc002uxq.1_Intron|CASP8_uc002uxs.1_Intron|CASP8_uc002uxt.1_Intron|CASP8_uc002uxu.1_Intron|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Intron|CASP8_uc002uxw.1_5'Flank NM_033355 NP_203519 ESPNL 339768 broad.mit.edu 37 2 239034684 239034685 + Intron DEL TA - - rs34101062;rs139659175 2011-2358:2012-1325-T g.chr2:239034684_239034685delTA uc002vxq.3 + ESPNL_uc010fyw.2_Intron NM_194312 NP_919288 LAMA5 3911 broad.mit.edu 37 20 60889052 60889053 + Intron INS - GG GG 2011-2358:2012-1325-T g.chr20:60889052_60889053insGG uc002ycq.2 - NM_005560 NP_005551 TTLL8 164714 broad.mit.edu 37 22 50467683 50467684 + Intron INS - C C 2011-2358:2012-1325-T g.chr22:50467683_50467684insC uc011ark.1 - NM_001080447 NP_001073916 ADCY5 111 broad.mit.edu 37 3 123102829 123102830 + Intron DEL AA - - rs35396016 2011-2358:2012-1325-T g.chr3:123102829_123102830delAA uc003egh.1 - ADCY5_uc003egg.1_Intron|ADCY5_uc003egi.1_Intron NM_183357 NP_899200 SORCS2 57537 broad.mit.edu 37 4 7455278 7455279 + Intron DEL TG - - 2011-2358:2012-1325-T g.chr4:7455278_7455279delTG uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 MTNR1A 4543 broad.mit.edu 37 4 187462030 187462031 + Intron INS - GAAG GAAG rs5864999;rs34769608 2011-2358:2012-1325-T g.chr4:187462030_187462031insGAAG uc003izd.1 - NM_005958 NP_005949 CEP72 55722 broad.mit.edu 37 5 650415 650416 + Intron DEL TG - - 2011-2358:2012-1325-T g.chr5:650415_650416delTG uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1072382 1072383 + Intron INS - A A 2011-2358:2012-1325-T g.chr5:1072382_1072383insA uc003jbu.2 - NM_006598 NP_006589 SLC12A7 10723 broad.mit.edu 37 5 1072505 1072506 + Intron INS - G G 2011-2358:2012-1325-T g.chr5:1072505_1072506insG uc003jbu.2 - NM_006598 NP_006589 IL6ST 3572 broad.mit.edu 37 5 55265657 55265658 + Frame_Shift_Ins INS - A A 2011-2358:2012-1325-T g.chr5:55265657_55265658insA uc003jqq.2 - 4 345_346 c.90_91insT c.(88-93)TATATCfs p.Y30fs IL6ST_uc010iwb.2_Frame_Shift_Ins_p.Y30fs|IL6ST_uc010iwc.2_Frame_Shift_Ins_p.Y30fs|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_5'UTR|IL6ST_uc003jqr.2_Frame_Shift_Ins_p.Y30fs|IL6ST_uc010iwf.1_Intron NM_002184 NP_002175 PRKAR1B 5575 broad.mit.edu 37 7 628385 628386 + Intron INS - CAC CAC 2011-2358:2012-1325-T g.chr7:628385_628386insCAC uc003siu.1 - PRKAR1B_uc003siv.2_Intron|PRKAR1B_uc003siw.1_Intron|PRKAR1B_uc003six.1_Intron NM_002735 NP_002726 PTPRN2 5799 broad.mit.edu 37 7 157582776 157582777 + Intron INS - GGGG GGGG rs150902025 by1000genomes 2011-2358:2012-1325-T g.chr7:157582776_157582777insGGGG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158224158 158224158 + Intron DEL G - - 2011-2358:2012-1325-T g.chr7:158224158delG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 CSMD3 114788 broad.mit.edu 37 8 113353592 113353593 + Intron INS - T T 2011-2358:2012-1325-T g.chr8:113353592_113353593insT uc003ynu.2 - CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 NUP214 8021 broad.mit.edu 37 9 134000626 134000626 + 5'Flank DEL C - - 2011-2358:2012-1325-T g.chr9:134000626delC uc004cag.2 + NUP214_uc004cah.2_5'Flank|NUP214_uc004caf.1_5'Flank NM_005085 NP_005076 TSC1 7248 broad.mit.edu 37 9 135780007 135780013 + Intron DEL ACACTGG - - rs142817620;rs143481199 2011-2358:2012-1325-T g.chr9:135780007_135780013delACACTGG uc004cca.2 - TSC1_uc004ccb.3_Intron|TSC1_uc011mcq.1_Intron|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 OPHN1 4983 broad.mit.edu 37 X 67459062 67459062 + Intron DEL G - - rs67901004 2011-2358:2012-1325-T g.chrX:67459062delG uc004dww.3 - OPHN1_uc011mpg.1_Intron|OPHN1_uc004dwx.2_Intron NM_002547 NP_002538 RNH1 6050 broad.mit.edu 37 11 497211 497212 + Intron INS - CACA CACA rs146656956 by1000genomes 2011-2359:2012-1341-T g.chr11:497211_497212insCACA uc001lpk.1 - RNH1_uc001lpl.1_Intron|RNH1_uc001lpm.1_Intron|RNH1_uc001lpn.1_Intron|RNH1_uc001lpo.1_Intron|RNH1_uc009ybw.1_Intron|RNH1_uc001lpp.1_Intron|RNH1_uc001lpt.1_Intron|RNH1_uc001lpq.1_Intron|RNH1_uc001lpr.1_Intron|RNH1_uc001lps.1_Intron NM_203389 NP_976323 MYO7A 4647 broad.mit.edu 37 11 76903948 76903949 + Intron INS - TTT TTT 2011-2359:2012-1341-T g.chr11:76903948_76903949insTTT uc001oyb.2 + MYO7A_uc010rsm.1_Intron|MYO7A_uc001oyc.2_Intron|MYO7A_uc009yus.1_Intron|MYO7A_uc009yut.1_Intron NM_000260 NP_000251 CDRT4 284040 broad.mit.edu 37 17 15368709 15368710 + Intron DEL AC - - 2011-2359:2012-1341-T g.chr17:15368709_15368710delAC uc002gop.1 - CDRT4_uc010vvw.1_Intron|FAM18B2_uc010vvx.1_Intron NM_173622 NP_775893 TMEM146 257062 broad.mit.edu 37 19 5742169 5742170 + Intron DEL GT - - 2011-2359:2012-1341-T g.chr19:5742169_5742170delGT uc002mda.2 + TMEM146_uc010duj.1_Intron NM_152784 NP_689997 LTBP1 4052 broad.mit.edu 37 2 33589266 33589266 + Intron DEL T - - 2011-2359:2012-1341-T g.chr2:33589266delT uc002ros.2 + LTBP1_uc002rot.2_Intron|LTBP1_uc002rou.2_Intron|LTBP1_uc002rov.2_Intron|LTBP1_uc010ymz.1_Intron|LTBP1_uc010yna.1_Intron|LTBP1_uc010ynb.1_Intron NM_206943 NP_996826 BIN1 274 broad.mit.edu 37 2 127833341 127833342 + Intron INS - G G 2011-2359:2012-1341-T g.chr2:127833341_127833342insG uc002tns.1 - BIN1_uc010yzf.1_Intron|BIN1_uc010yzg.1_Intron|BIN1_uc002tnu.1_Intron|BIN1_uc002toa.1_Intron|BIN1_uc002tnt.1_Intron|BIN1_uc002tnv.1_Intron|BIN1_uc002tnw.1_Intron|BIN1_uc002tnx.1_Intron|BIN1_uc002tny.1_Intron|BIN1_uc002tnz.1_Intron|BIN1_uc002tob.1_Intron|BIN1_uc002toc.1_Intron NM_139343 NP_647593 ESPNL 339768 broad.mit.edu 37 2 239034684 239034685 + Intron DEL TA - - rs34101062;rs139659175 2011-2359:2012-1341-T g.chr2:239034684_239034685delTA uc002vxq.3 + ESPNL_uc010fyw.2_Intron NM_194312 NP_919288 ADCY2 108 broad.mit.edu 37 5 7825504 7825505 + Intron DEL GC - - 2011-2359:2012-1341-T g.chr5:7825504_7825505delGC uc003jdz.1 + ADCY2_uc011cmo.1_Intron|ADCY2_uc010itm.1_Intron NM_020546 NP_065433 ADCY2 108 broad.mit.edu 37 5 7825508 7825508 + Intron DEL C - - 2011-2359:2012-1341-T g.chr5:7825508delC uc003jdz.1 + ADCY2_uc011cmo.1_Intron|ADCY2_uc010itm.1_Intron NM_020546 NP_065433 LETM2 137994 broad.mit.edu 37 8 38262780 38262780 + Intron DEL T - - 2011-2359:2012-1341-T g.chr8:38262780delT uc003xlm.1 + LETM2_uc003xll.1_Intron|LETM2_uc003xln.1_Intron|LETM2_uc003xlo.1_Intron NM_144652 NP_653253 POMT1 10585 broad.mit.edu 37 9 134391153 134391154 + Intron DEL TA - - rs139935499;rs144209086 by1000genomes 2011-2359:2012-1341-T g.chr9:134391153_134391154delTA uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 MORN1 79906 broad.mit.edu 37 1 2258590 2258591 + Intron INS - ACAC ACAC rs149761185;rs144904421 by1000genomes 2011-2360:2012-325-T g.chr1:2258590_2258591insACAC uc001ajb.1 - NM_024848 NP_079124 PCDH15 65217 broad.mit.edu 37 10 57298686 57298687 + Intron DEL CC - - 2011-2360:2012-325-T g.chr10:57298686_57298687delCC uc001jjv.1 - NM_001142770 NP_001136242 PCDH15 65217 broad.mit.edu 37 10 57298691 57298691 + Intron DEL T - - 2011-2360:2012-325-T g.chr10:57298691delT uc001jjv.1 - NM_001142770 NP_001136242 ODF3 113746 broad.mit.edu 37 11 194743 194744 + 5'Flank INS - CACT CACT 2011-2360:2012-325-T g.chr11:194743_194744insCACT uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 CORO7 79585 broad.mit.edu 37 16 4394388 4394389 + Intron DEL TG - - 2011-2360:2012-325-T g.chr16:4394388_4394389delTG uc002cwf.2 - CORO7_uc002cwe.2_Intron|TIMM16_uc002cwd.2_Intron NM_024535 NP_078811 SLC38A10 124565 broad.mit.edu 37 17 79223265 79223265 + Intron DEL G - - 2011-2360:2012-325-T g.chr17:79223265delG uc002jzz.1 - SLC38A10_uc002jzy.1_Intron NM_001037984 NP_001033073 CELF4 56853 broad.mit.edu 37 18 35071167 35071167 + Intron DEL G - - rs10707619 2011-2360:2012-325-T g.chr18:35071167delG uc002lae.2 - CELF4_uc010dnd.1_Intron|CELF4_uc002lag.2_Intron|CELF4_uc002laf.2_Intron|CELF4_uc002lai.2_Intron NM_020180 NP_064565 TCF3 6929 broad.mit.edu 37 19 1628152 1628153 + Intron INS - G G 2011-2360:2012-325-T g.chr19:1628152_1628153insG uc002ltr.2 - TCF3_uc002ltt.3_Intron|TCF3_uc002ltq.2_Intron|TCF3_uc002lts.1_Intron NM_003200 NP_003191 MYT1L 23040 broad.mit.edu 37 2 1870216 1870219 + Intron DEL GAGA - - 2011-2360:2012-325-T g.chr2:1870216_1870219delGAGA uc002qxe.2 - MYT1L_uc002qxd.2_Intron NM_015025 NP_055840 TP63 8626 broad.mit.edu 37 3 189348969 189348973 + 5'Flank DEL CTCCA - - rs76937731 2011-2360:2012-325-T g.chr3:189348969_189348973delCTCCA uc003fry.2 + TP63_uc003frx.2_5'Flank|TP63_uc003frz.2_5'Flank|TP63_uc010hzc.1_5'Flank NM_003722 NP_003713 NCAPG2 54892 broad.mit.edu 37 7 158460384 158460385 + Intron INS - T T rs138737992 2011-2360:2012-325-T g.chr7:158460384_158460385insT uc003wnv.1 - NCAPG2_uc010lqu.1_Intron|NCAPG2_uc003wnw.1_Intron|NCAPG2_uc003wnx.1_Intron|NCAPG2_uc011kwe.1_Intron|NCAPG2_uc011kwc.1_5'Flank|NCAPG2_uc011kwd.1_5'Flank NM_017760 NP_060230 DLGAP2 9228 broad.mit.edu 37 8 1611168 1611169 + Intron DEL GT - - rs61106333 2011-2360:2012-325-T g.chr8:1611168_1611169delGT uc003wpl.2 + DLGAP2_uc003wpm.2_Intron NM_004745 NP_004736 CDKN2A 1029 broad.mit.edu 37 9 21971160 21971160 + Frame_Shift_Del DEL G - - 2011-2360:2012-325-T g.chr9:21971160delG uc003zpk.2 - 2 410 c.198delC c.(196-198)CACfs p.H66fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.R122fs NM_000077 NP_000068 TTF1 7270 broad.mit.edu 37 9 135253659 135253660 + Intron INS - GT GT 2011-2360:2012-325-T g.chr9:135253659_135253660insGT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 LOC200030 200030 broad.mit.edu 37 1 148004891 148004891 + Intron DEL A - - 2011-2361:2012-1294-T g.chr1:148004891delA uc001eqf.2 - LOC200030_uc010ozz.1_Intron|LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqq.2_Intron NM_017940 NP_060410 LGR6 59352 broad.mit.edu 37 1 202174656 202174657 + Intron DEL CA - - 2011-2361:2012-1294-T g.chr1:202174656_202174657delCA uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 FAIM3 9214 broad.mit.edu 37 1 207097912 207097913 + 5'Flank DEL GT - - 2011-2361:2012-1294-T g.chr1:207097912_207097913delGT uc001hey.2 - FAIM3_uc010prz.1_5'Flank|FAIM3_uc010psa.1_5'Flank|FAIM3_uc010psb.1_5'Flank NM_005449 NP_005440 FANCA 2175 broad.mit.edu 37 16 89811911 89811912 + Intron INS - A A rs5000712;rs112679580 2011-2361:2012-1294-T g.chr16:89811911_89811912insA uc002fou.1 - FANCA_uc010vpn.1_Intron|FANCA_uc010vpo.1_Intron NM_000135 NP_000126 TSSC1 7260 broad.mit.edu 37 2 3244687 3244688 + Intron INS - AAAG AAAG rs74999910 2011-2361:2012-1294-T g.chr2:3244687_3244688insAAAG uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 CUL3 8452 broad.mit.edu 37 2 225376126 225376127 + Frame_Shift_Ins INS - A A 2011-2361:2012-1294-T g.chr2:225376126_225376127insA uc002vny.2 - 6 1211_1212 c.827_828insT c.(826-828)ATAfs p.I276fs CUL3_uc010zls.1_Frame_Shift_Ins_p.I210fs|CUL3_uc010fwy.1_Frame_Shift_Ins_p.I282fs NM_003590 NP_003581 SH3TC1 54436 broad.mit.edu 37 4 8241032 8241037 + Intron DEL ACACAG - - rs10532430 2011-2361:2012-1294-T g.chr4:8241032_8241037delACACAG uc003gkv.3 + SH3TC1_uc003gkw.3_Intron|SH3TC1_uc003gkx.3_Intron|SH3TC1_uc003gky.2_Intron NM_018986 NP_061859 TERT 7015 broad.mit.edu 37 5 1272688 1272689 + Intron INS - CA CA rs10700999;rs67978303 2011-2361:2012-1294-T g.chr5:1272688_1272689insCA uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 DNAH5 1767 broad.mit.edu 37 5 13919310 13919310 + Frame_Shift_Del DEL G - - 2011-2361:2012-1294-T g.chr5:13919310delG uc003jfd.2 - 7 992 c.950delC c.(949-951)GCGfs p.A317fs DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 TG 7038 broad.mit.edu 37 8 134124273 134124274 + Intron INS - AC AC 2011-2361:2012-1294-T g.chr8:134124273_134124274insAC uc003ytw.2 + TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron NM_003235 NP_003226 SVIL 6840 broad.mit.edu 37 10 29795722 29795722 + Intron DEL T - - rs111645375 2011-2362:2012-363-T g.chr10:29795722delT uc001iut.1 - SVIL_uc010qdw.1_Intron|SVIL_uc001iuu.1_Intron NM_021738 NP_068506 LHPP 64077 broad.mit.edu 37 10 126195749 126195750 + Intron INS - G G 2011-2362:2012-363-T g.chr10:126195749_126195750insG uc001lhs.1 + LHPP_uc001lht.1_Intron|LHPP_uc009yai.1_Intron NM_022126 NP_071409 TMEM132D 121256 broad.mit.edu 37 12 129674825 129674826 + Intron INS - G G 2011-2362:2012-363-T g.chr12:129674825_129674826insG uc009zyl.1 - NM_133448 NP_597705 GRTP1 79774 broad.mit.edu 37 13 113986628 113986629 + Intron DEL CA - - 2011-2362:2012-363-T g.chr13:113986628_113986629delCA uc001vtn.2 - GRTP1_uc010tkb.1_Intron|GRTP1_uc010tkc.1_Intron NM_024719 NP_078995 EVL 51466 broad.mit.edu 37 14 100591385 100591386 + Intron DEL AC - - rs139590878;rs77018455 2011-2362:2012-363-T g.chr14:100591385_100591386delAC uc001ygt.2 + EVL_uc001ygv.2_Intron|EVL_uc001ygu.2_Intron|EVL_uc010avu.2_Intron NM_016337 NP_057421 MRPL46 26589 broad.mit.edu 37 15 89003438 89003439 + Intron INS - TC TC rs66473335 2011-2362:2012-363-T g.chr15:89003438_89003439insTC uc002bmj.2 - MRPL46_uc002bmi.1_3'UTR|MRPL46_uc002bmk.2_Intron NM_022163 NP_071446 LRRC37B 114659 broad.mit.edu 37 17 30354382 30354383 + Intron INS - TG TG 2011-2362:2012-363-T g.chr17:30354382_30354383insTG uc002hgu.2 + LRRC37B_uc010wbx.1_Intron|LRRC37B_uc010csu.2_Intron NM_052888 NP_443120 ARHGEF1 9138 broad.mit.edu 37 19 42418877 42418877 + Intron DEL T - - 2011-2362:2012-363-T g.chr19:42418877delT uc002osc.2 + ARHGEF1 9138 broad.mit.edu 37 19 42418882 42418882 + Intron DEL T - - 2011-2362:2012-363-T g.chr19:42418882delT uc002osc.2 + GAD1 2571 broad.mit.edu 37 2 171684615 171684616 + Intron INS - TCCTCACCC TCCTCACCC rs72439441 2011-2362:2012-363-T g.chr2:171684615_171684616insTCCTCACCC uc002ugi.2 + GAD1_uc002ugh.2_Intron NM_000817 NP_000808 STAT1 6772 broad.mit.edu 37 2 191874732 191874746 + Splice_Site DEL TATAGGGAAAAAGAA - - 2011-2362:2012-363-T g.chr2:191874732_191874746delTATAGGGAAAAAGAA uc002usj.2 - 3 388 c.0_splice c.e3-1 STAT1_uc010fse.1_Splice_Site|STAT1_uc002usk.2_Splice_Site|STAT1_uc002usl.2_Splice_Site_p.W2_splice|STAT1_uc010fsf.1_Splice_Site NM_007315 NP_009330 TNS1 7145 broad.mit.edu 37 2 218670201 218670202 + Intron INS - AG AG 2011-2362:2012-363-T g.chr2:218670201_218670202insAG uc002vgt.2 - TNS1_uc002vgr.2_Intron|TNS1_uc002vgs.2_Intron|TNS1_uc002vgq.2_Intron NM_022648 NP_072174 TNS1 7145 broad.mit.edu 37 2 218670204 218670205 + Intron INS - TAC TAC 2011-2362:2012-363-T g.chr2:218670204_218670205insTAC uc002vgt.2 - TNS1_uc002vgr.2_Intron|TNS1_uc002vgs.2_Intron|TNS1_uc002vgq.2_Intron NM_022648 NP_072174 TNS1 7145 broad.mit.edu 37 2 218670230 218670231 + Intron INS - TACG TACG 2011-2362:2012-363-T g.chr2:218670230_218670231insTACG uc002vgt.2 - TNS1_uc002vgr.2_Intron|TNS1_uc002vgs.2_Intron|TNS1_uc002vgq.2_Intron NM_022648 NP_072174 SRC 6714 broad.mit.edu 37 20 35990266 35990273 + Intron DEL GTAGAGAT - - rs72271164 2011-2362:2012-363-T g.chr20:35990266_35990273delGTAGAGAT uc002xgx.2 + SRC_uc002xgy.2_Intron NM_005417 NP_005408 TERT 7015 broad.mit.edu 37 5 1273354 1273355 + Intron INS - TGTG TGTG rs113470372 2011-2362:2012-363-T g.chr5:1273354_1273355insTGTG uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 TERT 7015 broad.mit.edu 37 5 1273355 1273356 + Intron INS - C C 2011-2362:2012-363-T g.chr5:1273355_1273356insC uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 TRAPPC9 83696 broad.mit.edu 37 8 141167143 141167143 + Intron DEL T - - rs67192772 2011-2362:2012-363-T g.chr8:141167143delT uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 SHOX 6473 broad.mit.edu 37 X 583482 583483 + 5'Flank DEL AT - - 2011-2362:2012-363-T g.chrX:583482_583483delAT uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 SHOX 6473 broad.mit.edu 37 X 583506 583507 + 5'Flank DEL AG - - 2011-2362:2012-363-T g.chrX:583506_583507delAG uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 USH2A 7399 broad.mit.edu 37 1 215955732 215955733 + Intron INS - AA AA rs138855979;rs71879852 by1000genomes 2011-2366:2012-1295-T g.chr1:215955732_215955733insAA uc001hku.1 - NM_206933 NP_996816 JAKMIP3 282973 broad.mit.edu 37 10 133974000 133974000 + Intron DEL G - - 2011-2366:2012-1295-T g.chr10:133974000delG uc001lkx.3 + JAKMIP3_uc009yba.1_Intron NM_001105521 NP_001098991 ST8SIA1 6489 broad.mit.edu 37 12 22473968 22473968 + Intron DEL G - - 2011-2366:2012-1295-T g.chr12:22473968delG uc001rfo.3 - ST8SIA1_uc009zix.2_Intron NM_003034 NP_003025 KIF26A 26153 broad.mit.edu 37 14 104631654 104631655 + Intron INS - TG TG 2011-2366:2012-1295-T g.chr14:104631654_104631655insTG uc001yos.3 + NM_015656 NP_056471 INF2 64423 broad.mit.edu 37 14 105326518 105326519 + Intron DEL CA - - rs111368348;rs139268964 2011-2366:2012-1295-T g.chr14:105326518_105326519delCA uc010tyi.1 + NM_022489 NP_071934 LAMA5 3911 broad.mit.edu 37 20 60889121 60889122 + Intron DEL GG - - 2011-2366:2012-1295-T g.chr20:60889121_60889122delGG uc002ycq.2 - NM_005560 NP_005551 FAM19A5 25817 broad.mit.edu 37 22 48925109 48925109 + Intron DEL C - - rs68070488 2011-2366:2012-1295-T g.chr22:48925109delC uc003bim.3 + NM_001082967 NP_001076436 TNK2 10188 broad.mit.edu 37 3 195598855 195598855 + Intron DEL T - - 2011-2366:2012-1295-T g.chr3:195598855delT uc003fvu.1 - TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Intron|TNK2_uc003fvs.1_Intron|TNK2_uc003fvt.1_Intron|TNK2_uc010hzw.1_Intron|TNK2_uc003fvv.1_Intron NM_005781 NP_005772 NKAP 79576 broad.mit.edu 37 X 119068419 119068419 + Intron DEL G - - 2011-2367:2012-1296-T g.chrX:119068419delG uc004esh.2 - NKAP_uc004esg.2_Intron NM_024528 NP_078804 PHLDB1 23187 broad.mit.edu 37 11 118480022 118480023 + Intron INS - C C 2011-2368:2012-1297-T g.chr11:118480022_118480023insC uc001ptr.1 + PHLDB1_uc010ryh.1_Intron|PHLDB1_uc001pts.2_Intron|PHLDB1_uc001ptt.2_Intron|PHLDB1_uc001ptu.1_Intron NM_015157 NP_055972 PHLDB1 23187 broad.mit.edu 37 11 118480028 118480028 + Intron DEL C - - 2011-2368:2012-1297-T g.chr11:118480028delC uc001ptr.1 + PHLDB1_uc010ryh.1_Intron|PHLDB1_uc001pts.2_Intron|PHLDB1_uc001ptt.2_Intron|PHLDB1_uc001ptu.1_Intron NM_015157 NP_055972 DICER1 23405 broad.mit.edu 37 14 95566096 95566096 + Intron DEL C - - 2011-2368:2012-1297-T g.chr14:95566096delC uc001ydw.2 - DICER1_uc010avh.1_Intron|DICER1_uc001ydv.2_Intron|DICER1_uc001ydx.2_Intron|DICER1_uc001ydy.1_Intron NM_030621 NP_085124 DICER1 23405 broad.mit.edu 37 14 95566098 95566108 + Intron DEL CACACACACAC - - rs71930859;rs71899983;rs71463970;rs58202892;rs34698774;rs66997818 by1000genomes 2011-2368:2012-1297-T g.chr14:95566098_95566108delCACACACACAC uc001ydw.2 - DICER1_uc010avh.1_Intron|DICER1_uc001ydv.2_Intron|DICER1_uc001ydx.2_Intron|DICER1_uc001ydy.1_Intron NM_030621 NP_085124 MYO9A 4649 broad.mit.edu 37 15 72395988 72395989 + Intron INS - AGA AGA rs147364936;rs146131392 by1000genomes 2011-2368:2012-1297-T g.chr15:72395988_72395989insAGA uc002atl.3 - MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Intron NM_006901 NP_008832 BAGE2 85319 broad.mit.edu 37 21 11099069 11099070 + 5'Flank INS - CTTT CTTT rs147397114 2011-2368:2012-1297-T g.chr21:11099069_11099070insCTTT uc002yit.1 - BAGE_uc002yix.2_5'Flank NM_182482 NP_872288 ZNF501 115560 broad.mit.edu 37 3 44776584 44776584 + Frame_Shift_Del DEL A - - 2011-2368:2012-1297-T g.chr3:44776584delA uc003cnu.1 + 3 1072 c.671delA c.(670-672)GAAfs p.E224fs ZNF501_uc003cnv.1_Frame_Shift_Del_p.K168fs NM_145044 NP_659481 HLA-G 3135 broad.mit.edu 37 6 29795082 29795082 + Intron DEL A - - 2011-2368:2012-1297-T g.chr6:29795082delA uc003nnw.2 + HLA-G_uc011dmb.1_5'Flank|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_5'Flank|HLA-G_uc010jrn.2_5'Flank|HLA-G_uc003nny.3_5'Flank|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29854982 29854983 + Intron DEL AC - - rs142373123;rs146815445 2011-2368:2012-1297-T g.chr6:29854982_29854983delAC uc011dmb.1 + HLA-H_uc003nod.2_5'Flank|HLA-H_uc010jro.2_5'Flank NM_002127 NP_002118 TAP1 6890 broad.mit.edu 37 6 32819684 32819685 + Intron INS - TG TG rs141273059 by1000genomes 2011-2368:2012-1297-T g.chr6:32819684_32819685insTG uc003ocg.2 - TAP1_uc011dqi.1_Intron|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank NM_000593 NP_000584 TAP1 6890 broad.mit.edu 37 6 32820695 32820696 + Intron INS - G G rs146655451 by1000genomes 2011-2368:2012-1297-T g.chr6:32820695_32820696insG uc003ocg.2 - TAP1_uc011dqi.1_5'Flank|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank NM_000593 NP_000584 SYNE1 23345 broad.mit.edu 37 6 152685873 152685873 + Intron DEL A - - 2011-2368:2012-1297-T g.chr6:152685873delA uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kja.1_Intron NM_182961 NP_892006 ADAM18 8749 broad.mit.edu 37 8 39463893 39463893 + Intron DEL T - - 2011-2368:2012-1297-T g.chr8:39463893delT uc003xni.2 + ADAM18_uc003xnh.2_Intron|ADAM18_uc010lww.2_Intron|ADAM18_uc010lwx.2_Intron NM_014237 NP_055052 SHC3 53358 broad.mit.edu 37 9 91674233 91674234 + Intron INS - G G rs112409651 2011-2368:2012-1297-T g.chr9:91674233_91674234insG uc004aqg.2 - NM_016848 NP_058544 NACC2 138151 broad.mit.edu 37 9 138916239 138916240 + Intron INS - TT TT 2011-2368:2012-1297-T g.chr9:138916239_138916240insTT uc004cgw.2 - NACC2_uc010nbh.2_Intron NM_144653 NP_653254 SCNN1D 6339 broad.mit.edu 37 1 1224850 1224851 + Intron DEL CC - - 2011-2369:2012-1298-T g.chr1:1224850_1224851delCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 MYH2 4620 broad.mit.edu 37 17 10434975 10434975 + Frame_Shift_Del DEL T - - 2011-2369:2012-1298-T g.chr17:10434975delT uc010coi.2 - 22 2800 c.2672delA c.(2671-2673)AATfs p.N891fs uc002gml.1_Intron|MYH2_uc002gmp.3_Frame_Shift_Del_p.N891fs|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 ZNF625 90589 broad.mit.edu 37 19 12256384 12256385 + Frame_Shift_Ins INS - T T 2011-2369:2012-1298-T g.chr19:12256384_12256385insT uc002mth.2 - 4 998_999 c.648_649insA c.(646-651)AAAGCCfs p.K216fs ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Frame_Shift_Ins_p.K250fs NM_145233 NP_660276 NOTCH3 4854 broad.mit.edu 37 19 15273600 15273605 + Intron DEL GTGTGC - - rs4019573;rs757473 by1000genomes 2011-2369:2012-1298-T g.chr19:15273600_15273605delGTGTGC uc002nan.2 - NM_000435 NP_000426 CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC - - 2011-2369:2012-1298-T g.chr19:16640581_16640583delTGC uc002nei.1 - 8 1079_1081 c.1005_1007delGCA c.(1003-1008)CAGCAA>CAA p.335_336QQ>Q MED26_uc002nee.2_Intron NM_006387 NP_006378 ODZ2 57451 broad.mit.edu 37 5 166854778 166854786 + Intron DEL GGGAAGGAA - - rs13185808 by1000genomes 2011-2369:2012-1298-T g.chr5:166854778_166854786delGGGAAGGAA uc010jjd.2 + NM_001122679 NP_001116151 ADAP1 11033 broad.mit.edu 37 7 945415 945415 + Intron DEL A - - 2011-2369:2012-1298-T g.chr7:945415delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 CNTNAP2 26047 broad.mit.edu 37 7 148028620 148028621 + Intron INS - A A 2011-2369:2012-1298-T g.chr7:148028620_148028621insA uc003weu.1 + NM_014141 NP_054860 TTF1 7270 broad.mit.edu 37 9 135253533 135253535 + Intron DEL GTG - - 2011-2369:2012-1298-T g.chr9:135253533_135253535delGTG uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 USH2A 7399 broad.mit.edu 37 1 215953166 215953166 + Intron DEL T - - 2011-2370:2012-1299-T g.chr1:215953166delT uc001hku.1 - NM_206933 NP_996816 LRRC27 80313 broad.mit.edu 37 10 134172656 134172658 + Intron DEL AGC - - 2011-2370:2012-1299-T g.chr10:134172656_134172658delAGC uc010quw.1 + LRRC27_uc001llg.2_Intron|LRRC27_uc001lli.2_Intron|LRRC27_uc001llj.2_Intron|LRRC27_uc001llk.3_Intron NM_030626 NP_085129 SYT1 6857 broad.mit.edu 37 12 79702407 79702408 + Intron DEL AG - - 2011-2370:2012-1299-T g.chr12:79702407_79702408delAG uc001sys.2 + SYT1_uc001syt.2_Intron|SYT1_uc001syu.2_Intron|SYT1_uc001syv.2_Intron NM_001135805 NP_001129277 RASA3 22821 broad.mit.edu 37 13 114794252 114794253 + Intron INS - G G 2011-2370:2012-1299-T g.chr13:114794252_114794253insG uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron|RASA3_uc010aha.1_Intron NM_007368 NP_031394 ABR 29 broad.mit.edu 37 17 1022582 1022583 + Intron INS - C C rs72063840 2011-2370:2012-1299-T g.chr17:1022582_1022583insC uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 NFE2L2 4780 broad.mit.edu 37 2 178215322 178215323 + Intron DEL TG - - 2011-2370:2012-1299-T g.chr2:178215322_178215323delTG uc002uli.3 - LOC100130691_uc002ulk.1_Intron NM_001145412 NP_001138884 SAPS2 9701 broad.mit.edu 37 22 50862951 50862951 + Intron DEL T - - 2011-2370:2012-1299-T g.chr22:50862951delT uc003blb.1 + SAPS2_uc003bky.1_Intron|SAPS2_uc003bkz.1_Intron|SAPS2_uc003blc.2_Intron|SAPS2_uc003bla.1_Intron NM_014678 NP_055493 NSD1 64324 broad.mit.edu 37 5 176687263 176687263 + Intron DEL G - - 2011-2370:2012-1299-T g.chr5:176687263delG uc003mfr.3 + NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Intron|NSD1_uc011dfx.1_Intron NM_022455 NP_071900 ADAP1 11033 broad.mit.edu 37 7 945211 945211 + Intron DEL A - - 2011-2370:2012-1299-T g.chr7:945211delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 MLL3 58508 broad.mit.edu 37 7 151884573 151884581 + Intron DEL TAAATATCT - - 2011-2370:2012-1299-T g.chr7:151884573_151884581delTAAATATCT uc003wla.2 - MLL3_uc003wkz.2_Intron NM_170606 NP_733751 ABCA4 24 broad.mit.edu 37 1 94487308 94487309 + Intron INS - T T 2011-2371:2012-1300-T g.chr1:94487308_94487309insT uc001dqh.2 - NM_000350 NP_000341 BIRC3 330 broad.mit.edu 37 11 102195804 102195804 + Frame_Shift_Del DEL T - - 2011-2371:2012-1300-T g.chr11:102195804delT uc001pgx.2 + 3 786 c.564delT c.(562-564)GATfs p.D188fs NM_182962 NP_892007 MC2R 4158 broad.mit.edu 37 18 13887386 13887387 + Intron DEL AA - - 2011-2371:2012-1300-T g.chr18:13887386_13887387delAA uc002ksp.1 - NM_000529 NP_000520 ADAMTS2 9509 broad.mit.edu 37 5 178650364 178650367 + Intron DEL CACT - - rs150578307;rs59376923 2011-2371:2012-1300-T g.chr5:178650364_178650367delCACT uc003mjw.2 - ADAMTS2_uc011dgm.1_Intron NM_014244 NP_055059 ROS1 6098 broad.mit.edu 37 6 117704316 117704316 + Intron DEL G - - rs4945582 by1000genomes 2011-2371:2012-1300-T g.chr6:117704316delG uc003pxp.1 - ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 PDE4DIP 9659 broad.mit.edu 37 1 144905993 144905993 + Intron DEL A - - 2011-2373:2012-1301-T g.chr1:144905993delA uc001elw.3 - NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001emc.1_Intron|PDE4DIP_uc001emd.1_Intron|PDE4DIP_uc001emb.1_Intron|PDE4DIP_uc001eme.1_Intron|PDE4DIP_uc001emf.1_Intron NM_014644 NP_055459 RB1 5925 broad.mit.edu 37 13 49034062 49034063 + Intron INS - C C 2011-2373:2012-1301-T g.chr13:49034062_49034063insC uc001vcb.2 + NM_000321 NP_000312 RB1 5925 broad.mit.edu 37 13 49034074 49034075 + Intron INS - C C 2011-2373:2012-1301-T g.chr13:49034074_49034075insC uc001vcb.2 + NM_000321 NP_000312 RB1 5925 broad.mit.edu 37 13 49034078 49034079 + Intron INS - C C rs66565903 2011-2373:2012-1301-T g.chr13:49034078_49034079insC uc001vcb.2 + NM_000321 NP_000312 RB1 5925 broad.mit.edu 37 13 49034082 49034083 + Intron INS - C C 2011-2373:2012-1301-T g.chr13:49034082_49034083insC uc001vcb.2 + NM_000321 NP_000312 LMF1 64788 broad.mit.edu 37 16 1000816 1000817 + Intron INS - AG AG 2011-2373:2012-1301-T g.chr16:1000816_1000817insAG uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 LAMA1 284217 broad.mit.edu 37 18 7009159 7009170 + Intron DEL GGAAGTGAAGTG - - rs33969287 2011-2373:2012-1301-T g.chr18:7009159_7009170delGGAAGTGAAGTG uc002knm.2 - LAMA1_uc010wzj.1_Intron NM_005559 NP_005550 CACNG7 59284 broad.mit.edu 37 19 54425415 54425415 + Intron DEL C - - 2011-2373:2012-1301-T g.chr19:54425415delC uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 CACNG7 59284 broad.mit.edu 37 19 54426756 54426757 + Intron INS - T T rs71189899;rs67726946 2011-2373:2012-1301-T g.chr19:54426756_54426757insT uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 BAGE2 85319 broad.mit.edu 37 21 11099069 11099070 + 5'Flank INS - CTTT CTTT rs147397114 2011-2373:2012-1301-T g.chr21:11099069_11099070insCTTT uc002yit.1 - BAGE_uc002yix.2_5'Flank NM_182482 NP_872288 AJAP1 55966 broad.mit.edu 37 1 4762240 4762240 + Intron DEL A - - 2011-2374:2012-1302-T g.chr1:4762240delA uc001alm.1 + AJAP1_uc001aln.2_Intron NM_001042478 NP_001035943 RB1 5925 broad.mit.edu 37 13 48954159 48954160 + Intron INS - T T 2011-2374:2012-1302-T g.chr13:48954159_48954160insT uc001vcb.2 + NM_000321 NP_000312 COL4A2 1284 broad.mit.edu 37 13 111133520 111133520 + Intron DEL T - - 2011-2374:2012-1302-T g.chr13:111133520delT uc001vqx.2 + NM_001846 NP_001837 TP53 7157 broad.mit.edu 37 17 7577579 7577579 + Frame_Shift_Del DEL G - - 2011-2374:2012-1302-T g.chr17:7577579delG uc002gim.2 - 7 896 c.702delC c.(700-702)TACfs p.Y234fs TP53_uc002gig.1_Frame_Shift_Del_p.Y234fs|TP53_uc002gih.2_Frame_Shift_Del_p.Y234fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.Y102fs|TP53_uc010cng.1_Frame_Shift_Del_p.Y102fs|TP53_uc002gii.1_Frame_Shift_Del_p.Y102fs|TP53_uc010cnh.1_Frame_Shift_Del_p.Y234fs|TP53_uc010cni.1_Frame_Shift_Del_p.Y234fs|TP53_uc002gij.2_Frame_Shift_Del_p.Y234fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.Y141fs|TP53_uc002gio.2_Frame_Shift_Del_p.Y102fs NM_001126112 NP_001119584 BRCA1 672 broad.mit.edu 37 17 41256939 41256940 + Frame_Shift_Ins INS - A A 2011-2374:2012-1302-T g.chr17:41256939_41256940insA uc002icq.2 - 5 478_479 c.246_247insT c.(244-249)CTTGTTfs p.L82fs BRCA1_uc010whp.1_Frame_Shift_Ins_p.L35fs|BRCA1_uc010whl.1_Frame_Shift_Ins_p.L82fs|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Frame_Shift_Ins_p.L12fs|BRCA1_uc002icu.2_Frame_Shift_Ins_p.L82fs|BRCA1_uc010cyx.2_Frame_Shift_Ins_p.L35fs|BRCA1_uc002ict.2_Frame_Shift_Ins_p.L82fs|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_5'UTR|BRCA1_uc002idc.1_Frame_Shift_Ins_p.L82fs|BRCA1_uc010whr.1_Frame_Shift_Ins_p.L35fs|BRCA1_uc002idd.2_Frame_Shift_Ins_p.L82fs|BRCA1_uc002ide.1_5'UTR|BRCA1_uc010cyy.1_Frame_Shift_Ins_p.L82fs|BRCA1_uc010whs.1_Frame_Shift_Ins_p.L82fs|BRCA1_uc010cyz.2_Frame_Shift_Ins_p.L35fs|BRCA1_uc010cza.2_Frame_Shift_Ins_p.L56fs|BRCA1_uc010wht.1_Intron NM_007294 NP_009225 SLC20A2 6575 broad.mit.edu 37 8 42309846 42309847 + Intron DEL AG - - 2011-2374:2012-1302-T g.chr8:42309846_42309847delAG uc010lxl.2 - SLC20A2_uc010lxm.2_Intron|SLC20A2_uc003xpe.2_Intron|SLC20A2_uc011lcu.1_Intron NM_006749 NP_006740 MORN1 79906 broad.mit.edu 37 1 2258775 2258780 + Intron DEL ACACAG - - 2012-1342:2012-1313-T g.chr1:2258775_2258780delACACAG uc001ajb.1 - NM_024848 NP_079124 TINAGL1 64129 broad.mit.edu 37 1 32044322 32044323 + Intron DEL GT - - rs138914866 by1000genomes 2012-1342:2012-1313-T g.chr1:32044322_32044323delGT uc001bta.2 + TINAGL1_uc001bsz.2_Intron|TINAGL1_uc010ogi.1_Intron|TINAGL1_uc010ogj.1_Intron|TINAGL1_uc010ogk.1_Intron NM_022164 NP_071447 NINJ2 4815 broad.mit.edu 37 12 692236 692236 + Intron DEL A - - 2012-1342:2012-1313-T g.chr12:692236delA uc001qil.2 - NINJ2_uc010sdr.1_Intron|NINJ2_uc010sds.1_Intron NM_016533 NP_057617 CMIP 80790 broad.mit.edu 37 16 81702888 81702888 + Intron DEL A - - 2012-1342:2012-1313-T g.chr16:81702888delA uc002fgp.2 + CMIP_uc002fgq.1_Intron|CMIP_uc010vnq.1_Intron|CMIP_uc002fgr.1_Intron NM_198390 NP_938204 DPEP1 1800 broad.mit.edu 37 16 89701459 89701459 + Intron DEL T - - rs140405987 2012-1342:2012-1313-T g.chr16:89701459delT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 PITPNM3 83394 broad.mit.edu 37 17 6356445 6356446 + 3'UTR DEL CT - - 2012-1342:2012-1313-T g.chr17:6356445_6356446delCT uc002gdd.3 - 20 PITPNM3_uc010cln.2_3'UTR|PITPNM3_uc010clm.2_3'UTR|PITPNM3_uc002gdc.3_3'UTR NM_031220 NP_112497 TYMS 7298 broad.mit.edu 37 18 667454 667456 + Intron DEL TGA - - 2012-1342:2012-1313-T g.chr18:667454_667456delTGA uc010dka.1 + TYMS_uc010dkb.1_Intron|TYMS_uc010dkc.1_Intron NM_001071 NP_001062 TPO 7173 broad.mit.edu 37 2 1484545 1484546 + Intron INS - CTG CTG rs112763492 2012-1342:2012-1313-T g.chr2:1484545_1484546insCTG uc002qww.2 + TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Intron|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Intron NM_000547 NP_000538 TSSC1 7260 broad.mit.edu 37 2 3340665 3340666 + Intron INS - AA AA 2012-1342:2012-1313-T g.chr2:3340665_3340666insAA uc002qxj.2 - NM_003310 NP_003301 DYSF 8291 broad.mit.edu 37 2 71845433 71845439 + Intron DEL GTGGTGT - - rs138496199 2012-1342:2012-1313-T g.chr2:71845433_71845439delGTGGTGT uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 SLC4A5 57835 broad.mit.edu 37 2 74557753 74557754 + Intron INS - T T rs139880064 2012-1342:2012-1313-T g.chr2:74557753_74557754insT uc002skn.2 - SLC4A5_uc002skl.2_Intron|SLC4A5_uc002skp.1_5'Flank|SLC4A5_uc002sks.1_Intron NM_133478 NP_597812 CNNM4 26504 broad.mit.edu 37 2 97467394 97467395 + Intron DEL CA - - 2012-1342:2012-1313-T g.chr2:97467394_97467395delCA uc002swx.2 + CNNM4_uc010yuy.1_Intron NM_020184 NP_064569 GPC1 2817 broad.mit.edu 37 2 241387786 241387787 + Intron INS - GT GT 2012-1342:2012-1313-T g.chr2:241387786_241387787insGT uc002vyw.3 + NM_002081 NP_002072 GPC1 2817 broad.mit.edu 37 2 241387787 241387788 + Intron INS - T T 2012-1342:2012-1313-T g.chr2:241387787_241387788insT uc002vyw.3 + NM_002081 NP_002072 SNPH 9751 broad.mit.edu 37 20 1258548 1258549 + Intron DEL TG - - 2012-1342:2012-1313-T g.chr20:1258548_1258549delTG uc002wes.2 + SNPH_uc002wet.2_Intron NM_014723 NP_055538 DSCAM 1826 broad.mit.edu 37 21 42219379 42219379 + 5'Flank DEL T - - 2012-1342:2012-1313-T g.chr21:42219379delT uc002yyq.1 - DSCAM_uc002yyr.1_5'Flank NM_001389 NP_001380 TXNRD2 10587 broad.mit.edu 37 22 19897345 19897345 + Intron DEL C - - 2012-1342:2012-1313-T g.chr22:19897345delC uc011ahc.1 - TXNRD2_uc002zql.1_Intron|TXNRD2_uc002zqm.1_Intron|TXNRD2_uc002zqn.1_Intron|TXNRD2_uc002zqo.1_Intron|TXNRD2_uc002zqp.1_Intron|TXNRD2_uc002zqr.1_Intron|TXNRD2_uc010grv.1_Intron|TXNRD2_uc002zqj.1_Intron|TXNRD2_uc002zqs.2_Intron NM_006440 NP_006431 TP63 8626 broad.mit.edu 37 3 189348969 189348973 + 5'Flank DEL CTCCA - - rs76937731 2012-1342:2012-1313-T g.chr3:189348969_189348973delCTCCA uc003fry.2 + TP63_uc003frx.2_5'Flank|TP63_uc003frz.2_5'Flank|TP63_uc010hzc.1_5'Flank NM_003722 NP_003713 CYP2W1 54905 broad.mit.edu 37 7 1027580 1027581 + Intron INS - CT CT 2012-1342:2012-1313-T g.chr7:1027580_1027581insCT uc003sjq.1 + CYP2W1_uc003sjr.1_Intron NM_017781 NP_060251 ETV1 2115 broad.mit.edu 37 7 14029340 14029344 + 5'UTR DEL TCCAA - - 2012-1342:2012-1313-T g.chr7:14029340_14029344delTCCAA uc011jxq.1 - 1 ETV1_uc003ssw.3_5'UTR|ETV1_uc003ssx.2_Intron|ETV1_uc011jxr.1_Intron|ETV1_uc011jxs.1_Intron NM_004956 NP_004947 PTPRN2 5799 broad.mit.edu 37 7 157449830 157449832 + Intron DEL CGC - - rs142575214 by1000genomes 2012-1342:2012-1313-T g.chr7:157449830_157449832delCGC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157449836 157449836 + Intron DEL A - - rs144968564 by1000genomes 2012-1342:2012-1313-T g.chr7:157449836delA uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157449854 157449855 + Intron INS - CA CA 2012-1342:2012-1313-T g.chr7:157449854_157449855insCA uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 HEATR7A 727957 broad.mit.edu 37 8 145288431 145288432 + Intron INS - C C rs11435979;rs66838432 2012-1342:2012-1313-T g.chr8:145288431_145288432insC uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 SEMA4D 10507 broad.mit.edu 37 9 91987116 91987116 + Intron DEL G - - 2012-1342:2012-1313-T g.chr9:91987116delG uc011ltm.1 - SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqm.2_5'Flank NM_001142287 NP_001135759 PDE4DIP 9659 broad.mit.edu 37 1 144995278 144995278 + 5'Flank DEL G - - rs11305863 2012-1343:2012-1314-T g.chr1:144995278delG uc001elw.3 - NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_5'Flank|PDE4DIP_uc001ell.1_5'Flank|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001emc.1_5'Flank|PDE4DIP_uc001emd.1_5'Flank|PDE4DIP_uc001emg.1_5'Flank|PDE4DIP_uc001emh.2_Intron NM_014644 NP_055459 TSPAN4 7106 broad.mit.edu 37 11 859364 859365 + Intron DEL CC - - 2012-1343:2012-1314-T g.chr11:859364_859365delCC uc001lsd.1 + TSPAN4_uc001lse.1_Intron|TSPAN4_uc001lsf.1_Intron|TSPAN4_uc001lsg.1_Intron|TSPAN4_uc001lsh.1_Intron|TSPAN4_uc001lsi.1_Intron|TSPAN4_uc001lsj.1_Intron|uc001lsk.1_5'Flank NM_003271 NP_003262 TPCN2 219931 broad.mit.edu 37 11 68832375 68832376 + Intron DEL TG - - 2012-1343:2012-1314-T g.chr11:68832375_68832376delTG uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron NM_139075 NP_620714 CALB2 794 broad.mit.edu 37 16 71418606 71418606 + Intron DEL T - - 2012-1343:2012-1314-T g.chr16:71418606delT uc002faa.3 + CALB2_uc010vme.1_Intron|CALB2_uc002fac.3_Intron NM_001740 NP_001731 CALB2 794 broad.mit.edu 37 16 71418617 71418618 + Intron INS - T T 2012-1343:2012-1314-T g.chr16:71418617_71418618insT uc002faa.3 + CALB2_uc010vme.1_Intron|CALB2_uc002fac.3_Intron NM_001740 NP_001731 CHMP1A 5119 broad.mit.edu 37 16 89721859 89721860 + Intron INS - C C rs66855803 2012-1343:2012-1314-T g.chr16:89721859_89721860insC uc002fnu.2 - CHMP1A_uc002fnv.2_Intron|C16orf55_uc002fnw.1_5'Flank|C16orf55_uc002fnx.3_5'Flank|C16orf55_uc010vpk.1_5'Flank|C16orf55_uc002fny.1_5'Flank NM_002768 NP_002759 MINK1 50488 broad.mit.edu 37 17 4756325 4756325 + Intron DEL A - - 2012-1343:2012-1314-T g.chr17:4756325delA uc010vsl.1 + MINK1_uc010vsk.1_Intron|MINK1_uc010vsm.1_Intron|MINK1_uc010vsn.1_Intron|MINK1_uc010vso.1_Intron NM_153827 NP_722549 RAB37 326624 broad.mit.edu 37 17 72728962 72728963 + Intron INS - G G 2012-1343:2012-1314-T g.chr17:72728962_72728963insG uc010dfu.2 + RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron NM_175738 NP_783865 B3GNTL1 146712 broad.mit.edu 37 17 80916835 80916835 + Intron DEL T - - 2012-1343:2012-1314-T g.chr17:80916835delT uc002kgg.1 - B3GNTL1_uc002kgf.1_Intron|B3GNTL1_uc002kge.1_Intron NM_001009905 NP_001009905 PXDN 7837 broad.mit.edu 37 2 1708331 1708331 + Intron DEL G - - 2012-1343:2012-1314-T g.chr2:1708331delG uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 MST1R 4486 broad.mit.edu 37 3 49941789 49941789 + 5'Flank DEL T - - rs72461473 2012-1343:2012-1314-T g.chr3:49941789delT uc003cxy.3 - MST1R_uc011bdd.1_5'Flank|MST1R_uc011bde.1_5'Flank|MST1R_uc011bdf.1_5'Flank|MST1R_uc011bdg.1_5'Flank NM_002447 NP_002438 CHCHD6 84303 broad.mit.edu 37 3 126581777 126581777 + Intron DEL C - - 2012-1343:2012-1314-T g.chr3:126581777delC uc003ejf.1 + CHCHD6_uc010hsj.1_Intron NM_032343 NP_115719 SLC12A7 10723 broad.mit.edu 37 5 1071171 1071171 + Intron DEL G - - 2012-1343:2012-1314-T g.chr5:1071171delG uc003jbu.2 - NM_006598 NP_006589 SLC12A7 10723 broad.mit.edu 37 5 1072370 1072370 + Intron DEL G - - 2012-1343:2012-1314-T g.chr5:1072370delG uc003jbu.2 - NM_006598 NP_006589 HLA-G 3135 broad.mit.edu 37 6 29926301 29926315 + Intron DEL GGGACAGTACCCAGG - - rs140695210;rs41271884 2012-1343:2012-1314-T g.chr6:29926301_29926315delGGGACAGTACCCAGG uc011dmb.1 + NM_002127 NP_002118 ADAP1 11033 broad.mit.edu 37 7 945340 945340 + Intron DEL A - - 2012-1343:2012-1314-T g.chr7:945340delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 946003 946004 + Intron INS - G G rs146541692 2012-1343:2012-1314-T g.chr7:946003_946004insG uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PTPRN2 5799 broad.mit.edu 37 7 157449703 157449713 + Intron DEL CCACACACACA - - 2012-1343:2012-1314-T g.chr7:157449703_157449713delCCACACACACA uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 EHMT1 79813 broad.mit.edu 37 9 140615652 140615653 + Intron INS - C C 2012-1343:2012-1314-T g.chr9:140615652_140615653insC uc011mfc.1 + EHMT1_uc004coa.2_Intron|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 FMN2 56776 broad.mit.edu 37 1 240348390 240348390 + Intron DEL C - - rs74216355 2012-1344:2012-1315-T g.chr1:240348390delC uc010pyd.1 + FMN2_uc010pye.1_Intron NM_020066 NP_064450 NTM 50863 broad.mit.edu 37 11 131550612 131550613 + Intron DEL CA - - 2012-1344:2012-1315-T g.chr11:131550612_131550613delCA uc010sci.1 + NTM_uc001qgm.2_Intron|NTM_uc010sch.1_Intron NM_001144058 NP_001137530 TSPAN9 10867 broad.mit.edu 37 12 3378417 3378418 + Intron INS - GC GC 2012-1344:2012-1315-T g.chr12:3378417_3378418insGC uc001qlp.2 + NM_006675 NP_006666 ST8SIA1 6489 broad.mit.edu 37 12 22473930 22473930 + Intron DEL A - - 2012-1344:2012-1315-T g.chr12:22473930delA uc001rfo.3 - ST8SIA1_uc009zix.2_Intron NM_003034 NP_003025 COL4A2 1284 broad.mit.edu 37 13 111133970 111133970 + Intron DEL T - - rs67492412 2012-1344:2012-1315-T g.chr13:111133970delT uc001vqx.2 + NM_001846 NP_001837 DPEP1 1800 broad.mit.edu 37 16 89701139 89701139 + Intron DEL T - - 2012-1344:2012-1315-T g.chr16:89701139delT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701145 89701145 + Intron DEL C - - 2012-1344:2012-1315-T g.chr16:89701145delC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 HDAC4 9759 broad.mit.edu 37 2 240268467 240268468 + Intron INS - ACCA ACCA 2012-1344:2012-1315-T g.chr2:240268467_240268468insACCA uc002vyk.3 - HDAC4_uc010fza.2_Intron NM_006037 NP_006028 RAC2 5880 broad.mit.edu 37 22 37623576 37623576 + Intron DEL C - - rs116441193 by1000genomes 2012-1344:2012-1315-T g.chr22:37623576delC uc003arc.2 - NM_002872 NP_002863 FBLN1 2192 broad.mit.edu 37 22 45964440 45964441 + Intron INS - G G 2012-1344:2012-1315-T g.chr22:45964440_45964441insG uc003bgj.1 + NM_006486 NP_006477 IGF2BP2 10644 broad.mit.edu 37 3 185383273 185383274 + Intron INS - AGA AGA 2012-1344:2012-1315-T g.chr3:185383273_185383274insAGA uc003fpo.2 - IGF2BP2_uc010hyi.2_Intron|IGF2BP2_uc010hyj.2_Intron|IGF2BP2_uc010hyk.2_Intron|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Intron NM_006548 NP_006539 SLC12A7 10723 broad.mit.edu 37 5 1072818 1072818 + Intron DEL C - - 2012-1344:2012-1315-T g.chr5:1072818delC uc003jbu.2 - NM_006598 NP_006589 WDR60 55112 broad.mit.edu 37 7 158709123 158709124 + Intron DEL TG - - 2012-1344:2012-1315-T g.chr7:158709123_158709124delTG uc003woe.3 + WDR60_uc010lqv.2_Intron|WDR60_uc010lqw.2_Intron NM_018051 NP_060521 PXDNL 137902 broad.mit.edu 37 8 52609202 52609211 + Intron DEL CACATCCACA - - rs111649196;rs78823323 2012-1344:2012-1315-T g.chr8:52609202_52609211delCACATCCACA uc003xqu.3 - NM_144651 NP_653252 DHRSX 207063 broad.mit.edu 37 X 2300710 2300711 + Intron INS - CAC CAC 2012-1344:2012-1315-T g.chrX:2300710_2300711insCAC uc004cqf.3 - NM_145177 NP_660160 AGRN 375790 broad.mit.edu 37 1 966348 966349 + Intron DEL TG - - 2012-1347:2012-1316-T g.chr1:966348_966349delTG uc001ack.1 + NM_198576 NP_940978 LGR6 59352 broad.mit.edu 37 1 202173872 202173872 + Intron DEL T - - 2012-1347:2012-1316-T g.chr1:202173872delT uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 LGR6 59352 broad.mit.edu 37 1 202174494 202174495 + Intron DEL CC - - 2012-1347:2012-1316-T g.chr1:202174494_202174495delCC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 FMN2 56776 broad.mit.edu 37 1 240348276 240348277 + Intron INS - C C rs28537912 by1000genomes 2012-1347:2012-1316-T g.chr1:240348276_240348277insC uc010pyd.1 + FMN2_uc010pye.1_Intron NM_020066 NP_064450 GPR123 84435 broad.mit.edu 37 10 134891926 134891926 + Intron DEL T - - 2012-1347:2012-1316-T g.chr10:134891926delT uc001llw.2 + SNX32 254122 broad.mit.edu 37 11 65602306 65602309 + Intron DEL TGTG - - rs57841777 2012-1347:2012-1316-T g.chr11:65602306_65602309delTGTG uc001ofr.2 + SNX32_uc009yqt.2_Intron|SNX32_uc010rop.1_Intron NM_152760 NP_689973 FAM101A 144347 broad.mit.edu 37 12 124787358 124787359 + Intron INS - G G rs145051784 by1000genomes 2012-1347:2012-1316-T g.chr12:124787358_124787359insG uc001ugd.1 + FAM101A_uc001uge.1_Intron NM_181709 NP_859060 SLC7A1 6541 broad.mit.edu 37 13 30133609 30133609 + Intron DEL G - - rs71090264 2012-1347:2012-1316-T g.chr13:30133609delG uc001uso.2 - NM_003045 NP_003036 FAM155A 728215 broad.mit.edu 37 13 108518659 108518661 + In_Frame_Del DEL GCT - - 2012-1347:2012-1316-T g.chr13:108518659_108518661delGCT uc001vql.2 - 1 800_802 c.284_286delAGC c.(283-288)CAGCGG>CGG p.Q95del NM_001080396 NP_001073865 FAM70B 348013 broad.mit.edu 37 13 114499408 114499409 + Intron INS - TACACACCA TACACACCA 2012-1347:2012-1316-T g.chr13:114499408_114499409insTACACACCA uc001vuh.2 + NM_182614 NP_872420 ANKRD11 29123 broad.mit.edu 37 16 89373133 89373136 + Intron DEL CCAC - - rs67883105;rs74215307 2012-1347:2012-1316-T g.chr16:89373133_89373136delCCAC uc002fmx.1 - ANKRD11_uc002fmy.1_Intron|ANKRD11_uc002fnc.1_Intron|ANKRD11_uc002fnd.2_Intron|ANKRD11_uc002fne.2_Intron|ANKRD11_uc002fng.1_Intron|ANKRD11_uc002fnf.1_Intron NM_013275 NP_037407 RPH3AL 9501 broad.mit.edu 37 17 137212 137213 + Intron INS - CT CT 2012-1347:2012-1316-T g.chr17:137212_137213insCT uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 AKAP1 8165 broad.mit.edu 37 17 55183788 55183788 + Frame_Shift_Del DEL G - - 2012-1347:2012-1316-T g.chr17:55183788delG uc002iux.2 + 2 1194 c.963delG c.(961-963)GAGfs p.E321fs AKAP1_uc010wnl.1_Frame_Shift_Del_p.E321fs|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Frame_Shift_Del_p.E321fs NM_003488 NP_003479 DYSF 8291 broad.mit.edu 37 2 71845220 71845221 + Intron INS - T T rs141055082 by1000genomes 2012-1347:2012-1316-T g.chr2:71845220_71845221insT uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 COL6A1 1291 broad.mit.edu 37 21 47400844 47400845 + 5'Flank DEL TC - - rs142610988 2012-1347:2012-1316-T g.chr21:47400844_47400845delTC uc002zhu.1 + NM_001848 NP_001839 FYCO1 79443 broad.mit.edu 37 3 46003070 46003070 + Intron DEL A - - rs34367507 2012-1347:2012-1316-T g.chr3:46003070delA uc003cpb.3 - FYCO1_uc011bal.1_Intron NM_024513 NP_078789 GAK 2580 broad.mit.edu 37 4 850121 850127 + Intron DEL AGCTGCT - - 2012-1347:2012-1316-T g.chr4:850121_850127delAGCTGCT uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibi.2_Intron|GAK_uc010ibj.2_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 SLC12A7 10723 broad.mit.edu 37 5 1072505 1072506 + Intron INS - G G 2012-1347:2012-1316-T g.chr5:1072505_1072506insG uc003jbu.2 - NM_006598 NP_006589 CDH12 1010 broad.mit.edu 37 5 21755826 21755826 + Frame_Shift_Del DEL T - - 2012-1347:2012-1316-T g.chr5:21755826delT uc010iuc.2 - 11 2217 c.1759delA c.(1759-1761)ATTfs p.I587fs CDH12_uc011cno.1_Frame_Shift_Del_p.I547fs|CDH12_uc003jgk.2_Frame_Shift_Del_p.I587fs|uc003jgj.2_Intron NM_004061 NP_004052 ADAMTS2 9509 broad.mit.edu 37 5 178690131 178690133 + Intron DEL CCC - - rs142717391;rs58920184;rs10562505 2012-1347:2012-1316-T g.chr5:178690131_178690133delCCC uc003mjw.2 - ADAMTS2_uc011dgm.1_Intron NM_014244 NP_055059 IQCE 23288 broad.mit.edu 37 7 2617305 2617305 + Intron DEL G - - rs111517389 2012-1347:2012-1316-T g.chr7:2617305delG uc003smo.3 + IQCE_uc010ksm.1_Intron|IQCE_uc003sml.1_Intron|IQCE_uc011jvy.1_Intron|IQCE_uc011jvz.1_Intron|IQCE_uc003smk.3_Intron|IQCE_uc003smn.3_Intron NM_152558 NP_689771 COL5A1 1289 broad.mit.edu 37 9 137577138 137577139 + Intron INS - T T rs140995492 2012-1347:2012-1316-T g.chr9:137577138_137577139insT uc004cfe.2 + NM_000093 NP_000084 PIR 8544 broad.mit.edu 37 X 15452085 15452087 + Intron DEL AGG - - 2012-1347:2012-1316-T g.chrX:15452085_15452087delAGG uc004cwu.2 - PIR_uc004cwv.2_Intron NM_003662 NP_003653 CHD5 26038 broad.mit.edu 37 1 6168679 6168680 + Intron DEL AG - - 2012-1348:2012-1317-T g.chr1:6168679_6168680delAG uc001amb.1 - CHD5_uc001alz.1_Intron|CHD5_uc001ama.1_Intron NM_015557 NP_056372 NBPF1 55672 broad.mit.edu 37 1 16890815 16890815 + Intron DEL A - - rs56139324 2012-1348:2012-1317-T g.chr1:16890815delA uc009vos.1 - uc001ayw.2_5'Flank NM_017940 NP_060410 ANXA8 653145 broad.mit.edu 37 10 47058971 47058972 + Intron INS - CA CA rs144230274 2012-1348:2012-1317-T g.chr10:47058971_47058972insCA uc001jed.3 - PRSS23 11098 broad.mit.edu 37 11 86568871 86568873 + Intron DEL GAA - - 2012-1348:2012-1317-T g.chr11:86568871_86568873delGAA uc001pcc.1 + uc001pcd.2_Intron KIRREL3 84623 broad.mit.edu 37 11 126733393 126733394 + Intron INS - GTGCGT GTGCGT rs72371767 2012-1348:2012-1317-T g.chr11:126733393_126733394insGTGCGT uc001qea.2 - KIRREL3_uc001qeb.2_Intron|KIRREL3_uc001qec.1_Intron|KIRREL3_uc001qed.3_Intron NM_032531 NP_115920 KIRREL3 84623 broad.mit.edu 37 11 126733402 126733403 + Intron DEL GC - - 2012-1348:2012-1317-T g.chr11:126733402_126733403delGC uc001qea.2 - KIRREL3_uc001qeb.2_Intron|KIRREL3_uc001qec.1_Intron|KIRREL3_uc001qed.3_Intron NM_032531 NP_115920 ETV6 2120 broad.mit.edu 37 12 12200900 12200903 + Intron DEL TGTG - - 2012-1348:2012-1317-T g.chr12:12200900_12200903delTGTG uc001raa.1 + uc001rab.1_5'Flank NM_001987 NP_001978 KSR2 283455 broad.mit.edu 37 12 118232158 118232159 + Intron INS - CA CA 2012-1348:2012-1317-T g.chr12:118232158_118232159insCA uc001two.2 - NM_173598 NP_775869 GALNT9 50614 broad.mit.edu 37 12 132893724 132893725 + Intron INS - G G 2012-1348:2012-1317-T g.chr12:132893724_132893725insG uc001ukc.3 - GALNT9_uc009zys.2_Intron NM_001122636 NP_001116108 ATP10A 57194 broad.mit.edu 37 15 26003733 26003736 + Intron DEL CTAA - - 2012-1348:2012-1317-T g.chr15:26003733_26003736delCTAA uc010ayu.2 - NM_024490 NP_077816 DECR2 26063 broad.mit.edu 37 16 458213 458214 + Intron DEL CT - - 2012-1348:2012-1317-T g.chr16:458213_458214delCT uc002chb.2 + DECR2_uc002chc.2_Intron|DECR2_uc010bqv.2_Intron|DECR2_uc002chd.2_Intron|DECR2_uc002che.1_Intron NM_020664 NP_065715 LMF1 64788 broad.mit.edu 37 16 1000737 1000738 + Intron DEL AG - - 2012-1348:2012-1317-T g.chr16:1000737_1000738delAG uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 IL34 146433 broad.mit.edu 37 16 70678839 70678840 + 5'Flank INS - GAG GAG rs117213714 by1000genomes 2012-1348:2012-1317-T g.chr16:70678839_70678840insGAG uc002ezh.1 + IL34_uc002ezi.1_5'Flank NM_152456 NP_689669 RAB40B 10966 broad.mit.edu 37 17 80630093 80630093 + Intron DEL T - - 2012-1348:2012-1317-T g.chr17:80630093delT uc002kft.2 - RAB40B_uc002kfs.2_Intron NM_006822 NP_006813 NOTCH3 4854 broad.mit.edu 37 19 15297861 15297862 + Intron INS - A A 2012-1348:2012-1317-T g.chr19:15297861_15297862insA uc002nan.2 - NOTCH3_uc002nao.1_Intron NM_000435 NP_000426 CACNG7 59284 broad.mit.edu 37 19 54428870 54428870 + Intron DEL T - - 2012-1348:2012-1317-T g.chr19:54428870delT uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 MLPH 79083 broad.mit.edu 37 2 238452098 238452099 + Intron DEL TG - - 2012-1348:2012-1317-T g.chr2:238452098_238452099delTG uc002vwt.2 + MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Intron|MLPH_uc002vwu.2_Intron|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Intron|MLPH_uc010fyu.2_Intron NM_024101 NP_077006 MLPH 79083 broad.mit.edu 37 2 238453847 238453848 + Intron INS - C C rs112512868 by1000genomes 2012-1348:2012-1317-T g.chr2:238453847_238453848insC uc002vwt.2 + MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Intron|MLPH_uc002vwu.2_Intron|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Intron|MLPH_uc010fyu.2_Intron NM_024101 NP_077006 RAC2 5880 broad.mit.edu 37 22 37622923 37622923 + Intron DEL A - - 2012-1348:2012-1317-T g.chr22:37622923delA uc003arc.2 - NM_002872 NP_002863 TBC1D22A 25771 broad.mit.edu 37 22 47554663 47554664 + Intron DEL AC - - 2012-1348:2012-1317-T g.chr22:47554663_47554664delAC uc003bib.2 + TBC1D22A_uc010haf.2_Intron|TBC1D22A_uc003bic.2_Intron|TBC1D22A_uc003bie.2_Intron|TBC1D22A_uc003bid.2_Intron|TBC1D22A_uc010hag.2_Intron|TBC1D22A_uc003bif.2_Intron NM_014346 NP_055161 EPHA3 2042 broad.mit.edu 37 3 89521832 89521836 + Intron DEL GAAAG - - 2012-1348:2012-1317-T g.chr3:89521832_89521836delGAAAG uc003dqy.2 + EPHA3_uc010hon.1_Intron NM_005233 NP_005224 IFT122 55764 broad.mit.edu 37 3 129235569 129235570 + Intron DEL AG - - 2012-1348:2012-1317-T g.chr3:129235569_129235570delAG uc003emm.2 + IFT122_uc003eml.2_Intron|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Intron|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Intron NM_052989 NP_443715 EBF1 1879 broad.mit.edu 37 5 158526969 158526969 + 5'Flank DEL A - - 2012-1348:2012-1317-T g.chr5:158526969delA uc010jip.2 - EBF1_uc011ddx.1_5'Flank|EBF1_uc003lxl.3_5'Flank|uc003lxm.1_5'Flank NM_024007 NP_076870 TMEM181 57583 broad.mit.edu 37 6 158987478 158987480 + Intron DEL TGA - - 2012-1348:2012-1317-T g.chr6:158987478_158987480delTGA uc003qrm.3 + TMEM181_uc010kjr.1_Intron NM_020823 NP_065874 TMEM181 57583 broad.mit.edu 37 6 158987493 158987494 + Intron INS - GG GG 2012-1348:2012-1317-T g.chr6:158987493_158987494insGG uc003qrm.3 + TMEM181_uc010kjr.1_Intron NM_020823 NP_065874 TMEM181 57583 broad.mit.edu 37 6 158987496 158987497 + Intron INS - G G 2012-1348:2012-1317-T g.chr6:158987496_158987497insG uc003qrm.3 + TMEM181_uc010kjr.1_Intron NM_020823 NP_065874 ADAP1 11033 broad.mit.edu 37 7 946003 946004 + Intron INS - G G rs146541692 2012-1348:2012-1317-T g.chr7:946003_946004insG uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 RELN 5649 broad.mit.edu 37 7 103202164 103202165 + Intron DEL AG - - 2012-1348:2012-1317-T g.chr7:103202164_103202165delAG uc003vca.2 - RELN_uc010liz.2_Intron NM_005045 NP_005036 PTPRN2 5799 broad.mit.edu 37 7 158066377 158066378 + Intron INS - GG GG 2012-1348:2012-1317-T g.chr7:158066377_158066378insGG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158112363 158112364 + Intron INS - CACA CACA 2012-1348:2012-1317-T g.chr7:158112363_158112364insCACA uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 HOOK3 84376 broad.mit.edu 37 8 42761289 42761289 + Intron DEL C - - 2012-1348:2012-1317-T g.chr8:42761289delC uc003xpr.2 + HOOK3_uc010lxq.1_Intron NM_032410 NP_115786 ARHGAP39 80728 broad.mit.edu 37 8 145913072 145913073 + 5'Flank INS - C C 2012-1348:2012-1317-T g.chr8:145913072_145913073insC uc011llk.1 - NM_025251 NP_079527 SEMA4D 10507 broad.mit.edu 37 9 91986896 91986897 + Intron DEL TC - - rs138715648 2012-1348:2012-1317-T g.chr9:91986896_91986897delTC uc011ltm.1 - SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqm.2_5'Flank NM_001142287 NP_001135759 TTF1 7270 broad.mit.edu 37 9 135253969 135253970 + Intron INS - TG TG 2012-1348:2012-1317-T g.chr9:135253969_135253970insTG uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 PPP2R3B 28227 broad.mit.edu 37 X 299280 299280 + Intron DEL C - - 2012-1348:2012-1317-T g.chrX:299280delC uc004cpg.2 - PPP2R3B_uc004cpf.2_Intron NM_013239 NP_037371 AGRN 375790 broad.mit.edu 37 1 966148 966149 + Intron DEL TG - - 2012-1349:2012-1312-T g.chr1:966148_966149delTG uc001ack.1 + NM_198576 NP_940978 PRDM16 63976 broad.mit.edu 37 1 3030730 3030731 + Intron DEL CA - - 2012-1349:2012-1312-T g.chr1:3030730_3030731delCA uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 PRDM16 63976 broad.mit.edu 37 1 3030740 3030743 + Intron DEL CACA - - rs59561226;rs143090172 2012-1349:2012-1312-T g.chr1:3030740_3030743delCACA uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 PRDM16 63976 broad.mit.edu 37 1 3187225 3187225 + Intron DEL A - - 2012-1349:2012-1312-T g.chr1:3187225delA uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 PRDM16 63976 broad.mit.edu 37 1 3187228 3187228 + Intron DEL A - - 2012-1349:2012-1312-T g.chr1:3187228delA uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 CABC1 56997 broad.mit.edu 37 1 227148111 227148113 + Intron DEL GGC - - rs116675293 by1000genomes 2012-1349:2012-1312-T g.chr1:227148111_227148113delGGC uc001hqm.1 + CABC1_uc010pvp.1_Intron|CABC1_uc001hqn.1_Intron|CABC1_uc009xeq.1_Intron|CABC1_uc010pvq.1_Intron NM_020247 NP_064632 DISC1 27185 broad.mit.edu 37 1 231869100 231869118 + Intron DEL GAGTGGTGGTAGTGGTAGT - - 2012-1349:2012-1312-T g.chr1:231869100_231869118delGAGTGGTGGTAGTGGTAGT uc001huz.2 + TSNAX-DISC1_uc010pwf.1_Intron|TSNAX-DISC1_uc010pwg.1_Intron|TSNAX-DISC1_uc010pwh.1_Intron|TSNAX-DISC1_uc010pwi.1_Intron|TSNAX-DISC1_uc010pwj.1_Intron|TSNAX-DISC1_uc010pwk.1_Intron|TSNAX-DISC1_uc010pwl.1_Intron|DISC1_uc010pwo.1_Intron|DISC1_uc010pwp.1_Intron|DISC1_uc010pwq.1_Intron|DISC1_uc010pwr.1_Intron|DISC1_uc010pws.1_Intron|DISC1_uc010pwt.1_Intron|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_Intron|DISC1_uc010pww.1_Intron|DISC1_uc010pwx.1_Intron|DISC1_uc010pwy.1_Intron|DISC1_uc010pwz.1_Intron|DISC1_uc010pxa.1_Intron|DISC1_uc001huy.2_Intron|DISC1_uc010pxb.1_Intron|DISC1_uc010pxc.1_Intron|DISC1_uc010pxd.1_Intron|DISC1_uc010pxe.1_Intron|DISC1_uc009xfr.2_Intron|DISC1_uc010pxf.1_Intron|DISC1_uc010pxg.1_Intron|DISC1_uc010pxh.1_Intron|DISC1_uc010pxi.1_Intron|DISC1_uc010pxj.1_Intron|DISC1_uc010pxk.1_Intron|DISC1_uc010pxl.1_Intron|DISC1_uc010pxm.1_Intron|DISC1_uc010pxn.1_Intron|DISC1_uc001hva.2_Intron NM_018662 NP_061132 CNST 163882 broad.mit.edu 37 1 246783934 246783935 + Intron DEL CT - - 2012-1349:2012-1312-T g.chr1:246783934_246783935delCT uc001ibp.2 + CNST_uc001ibo.3_Intron NM_152609 NP_689822 KCNMA1 3778 broad.mit.edu 37 10 79279783 79279797 + Intron DEL TGCAGTGTGAGGGTG - - rs111846649;rs113107311;rs150264492 by1000genomes;by1000genomes 2012-1349:2012-1312-T g.chr10:79279783_79279797delTGCAGTGTGAGGGTG uc001jxn.2 - KCNMA1_uc001jxj.2_Intron|KCNMA1_uc001jxo.2_Intron|KCNMA1_uc001jxm.2_Intron|KCNMA1_uc001jxq.2_Intron NM_001161352 NP_001154824 C10orf81 79949 broad.mit.edu 37 10 115540996 115540997 + 3'UTR INS - CC CC rs11273863 2012-1349:2012-1312-T g.chr10:115540996_115540997insCC uc009xyc.1 + 13 C10orf81_uc001lar.1_3'UTR|C10orf81_uc001las.1_3'UTR|C10orf81_uc001lau.1_3'UTR|C10orf81_uc001lav.2_5'Flank FAT3 120114 broad.mit.edu 37 11 92438797 92438798 + Intron INS - G G 2012-1349:2012-1312-T g.chr11:92438797_92438798insG uc001pdj.3 + NM_001008781 NP_001008781 FAM101A 144347 broad.mit.edu 37 12 124787332 124787332 + Intron DEL G - - 2012-1349:2012-1312-T g.chr12:124787332delG uc001ugd.1 + FAM101A_uc001uge.1_Intron NM_181709 NP_859060 FAM101A 144347 broad.mit.edu 37 12 124787412 124787413 + Intron INS - A A rs71088995;rs66931564 2012-1349:2012-1312-T g.chr12:124787412_124787413insA uc001ugd.1 + FAM101A_uc001uge.1_Intron NM_181709 NP_859060 GPR133 283383 broad.mit.edu 37 12 131578501 131578502 + Intron INS - C C 2012-1349:2012-1312-T g.chr12:131578501_131578502insC uc001uit.3 + GPR133_uc010tbm.1_Intron|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Intron NM_198827 NP_942122 EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - CAG CAG rs28513925;rs34444665 by1000genomes 2012-1349:2012-1312-T g.chr12:132547093_132547094insCAG uc001ujn.2 + 46 8216_8217 c.8181_8182insCAG c.(8179-8184)insCAG p.2748_2749insQ EP400_uc001ujl.2_In_Frame_Ins_p.2747_2748insQ|EP400_uc001ujm.2_In_Frame_Ins_p.2667_2668insQ|EP400_uc001ujp.2_5'UTR NM_015409 NP_056224 C13orf35 400165 broad.mit.edu 37 13 113299776 113299784 + 5'Flank DEL GGCGAGGAT - - 2012-1349:2012-1312-T g.chr13:113299776_113299784delGGCGAGGAT uc001vsh.1 + NM_207440 NP_997323 ATP11A 23250 broad.mit.edu 37 13 113433293 113433295 + Intron DEL GAG - - 2012-1349:2012-1312-T g.chr13:113433293_113433295delGAG uc001vsi.3 + ATP11A_uc001vsj.3_Intron NM_015205 NP_056020 ATP11A 23250 broad.mit.edu 37 13 113433312 113433314 + Intron DEL GAA - - rs4998920 2012-1349:2012-1312-T g.chr13:113433312_113433314delGAA uc001vsi.3 + ATP11A_uc001vsj.3_Intron NM_015205 NP_056020 CUL4A 8451 broad.mit.edu 37 13 113869506 113869525 + Intron DEL TATGGAGGTCTGTGTGGGAG - - rs67096412;rs72109483 2012-1349:2012-1312-T g.chr13:113869506_113869525delTATGGAGGTCTGTGTGGGAG uc010tjy.1 + CUL4A_uc010tjx.1_Intron|CUL4A_uc001vth.2_Intron|CUL4A_uc001vtj.2_Intron NM_001008895 NP_001008895 TFDP1 7027 broad.mit.edu 37 13 114280345 114280346 + Intron DEL TC - - 2012-1349:2012-1312-T g.chr13:114280345_114280346delTC uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 GRK1 6011 broad.mit.edu 37 13 114430987 114430989 + Intron DEL GAG - - 2012-1349:2012-1312-T g.chr13:114430987_114430989delGAG uc010tkf.1 + NM_002929 NP_002920 INF2 64423 broad.mit.edu 37 14 105186987 105186987 + Intron DEL C - - 2012-1349:2012-1312-T g.chr14:105186987delC uc010tyi.1 + NM_022489 NP_071934 MYO9A 4649 broad.mit.edu 37 15 72395654 72395655 + Intron DEL GC - - 2012-1349:2012-1312-T g.chr15:72395654_72395655delGC uc002atl.3 - MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Intron NM_006901 NP_008832 MYO9A 4649 broad.mit.edu 37 15 72395659 72395659 + Intron DEL A - - rs150918805 by1000genomes 2012-1349:2012-1312-T g.chr15:72395659delA uc002atl.3 - MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Intron NM_006901 NP_008832 KIAA1199 57214 broad.mit.edu 37 15 81204234 81204235 + Intron INS - G G 2012-1349:2012-1312-T g.chr15:81204234_81204235insG uc002bfw.1 + KIAA1199_uc010unn.1_Intron NM_018689 NP_061159 KIAA1199 57214 broad.mit.edu 37 15 81204238 81204239 + Intron INS - A A 2012-1349:2012-1312-T g.chr15:81204238_81204239insA uc002bfw.1 + KIAA1199_uc010unn.1_Intron NM_018689 NP_061159 ADAMTSL3 57188 broad.mit.edu 37 15 84598502 84598503 + Intron DEL AG - - rs1553645 2012-1349:2012-1312-T g.chr15:84598502_84598503delAG uc002bjz.3 + ADAMTSL3_uc010bmt.1_Intron|ADAMTSL3_uc010bmu.1_Intron NM_207517 NP_997400 PIGQ 9091 broad.mit.edu 37 16 621434 621435 + Intron INS - TG TG rs150855414;rs72224568 by1000genomes 2012-1349:2012-1312-T g.chr16:621434_621435insTG uc002cho.2 + PIGQ_uc010bqw.2_Intron|PIGQ_uc002chm.2_Intron|PIGQ_uc002chn.2_Intron|PIGQ_uc010uui.1_5'Flank NM_148920 NP_683721 RAB40C 57799 broad.mit.edu 37 16 664177 664177 + Intron DEL C - - 2012-1349:2012-1312-T g.chr16:664177delC uc002chr.2 + RAB40C_uc002chq.2_Intron NM_021168 NP_066991 LMF1 64788 broad.mit.edu 37 16 907636 907637 + Intron INS - C C rs149757872 2012-1349:2012-1312-T g.chr16:907636_907637insC uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 908566 908567 + Intron INS - C C 2012-1349:2012-1312-T g.chr16:908566_908567insC uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 908589 908590 + Intron INS - C C 2012-1349:2012-1312-T g.chr16:908589_908590insC uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 908897 908898 + Intron DEL GT - - 2012-1349:2012-1312-T g.chr16:908897_908898delGT uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 909223 909223 + Intron DEL C - - rs66910933 2012-1349:2012-1312-T g.chr16:909223delC uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 909601 909601 + Intron DEL C - - rs74206771 2012-1349:2012-1312-T g.chr16:909601delC uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 TUSC5 286753 broad.mit.edu 37 17 1189854 1189854 + Intron DEL G - - 2012-1349:2012-1312-T g.chr17:1189854delG uc002fsi.1 + NM_172367 NP_758955 TUSC5 286753 broad.mit.edu 37 17 1189912 1189914 + Intron DEL TGT - - rs67856737 2012-1349:2012-1312-T g.chr17:1189912_1189914delTGT uc002fsi.1 + NM_172367 NP_758955 TBC1D3 729873 broad.mit.edu 37 17 36348819 36348820 + Intron INS - T T 2012-1349:2012-1312-T g.chr17:36348819_36348820insT uc002hpr.2 - TBC1D3_uc010wdl.1_5'Flank|TBC1D3_uc002hox.2_5'Flank|TBC1D3_uc010wdm.1_5'Flank|TBC1D3_uc002hpq.2_5'Flank|TBC1D3_uc010cvj.1_5'Flank|TBC1D3_uc010cvk.2_Intron|TBC1D3_uc002hpp.2_5'Flank|TBC1D3_uc010wdn.1_Intron NM_001123391 NP_001116863 RPTOR 57521 broad.mit.edu 37 17 78608663 78608673 + Intron DEL TGTGTGCATAC - - rs67330071 2012-1349:2012-1312-T g.chr17:78608663_78608673delTGTGTGCATAC uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 RPTOR 57521 broad.mit.edu 37 17 78867272 78867285 + Intron DEL TGTACGCGCCAGGG - - rs35094292;rs4315400;rs4555209 2012-1349:2012-1312-T g.chr17:78867272_78867285delTGTACGCGCCAGGG uc002jyt.1 + RPTOR_uc010wug.1_Intron NM_020761 NP_065812 RPTOR 57521 broad.mit.edu 37 17 78904232 78904237 + Intron DEL CATCCC - - rs62068526 by1000genomes 2012-1349:2012-1312-T g.chr17:78904232_78904237delCATCCC uc002jyt.1 + RPTOR_uc010wug.1_Intron NM_020761 NP_065812 RPTOR 57521 broad.mit.edu 37 17 78904248 78904248 + Intron DEL T - - rs66536164 2012-1349:2012-1312-T g.chr17:78904248delT uc002jyt.1 + RPTOR_uc010wug.1_Intron NM_020761 NP_065812 TBCD 6904 broad.mit.edu 37 17 80807923 80807924 + Intron INS - CTCTT CTCTT 2012-1349:2012-1312-T g.chr17:80807923_80807924insCTCTT uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 TBCD 6904 broad.mit.edu 37 17 80807929 80807938 + Intron DEL GTTGGCTGTG - - 2012-1349:2012-1312-T g.chr17:80807929_80807938delGTTGGCTGTG uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 ATP9B 374868 broad.mit.edu 37 18 77088179 77088180 + Intron INS - CC CC rs112208189 2012-1349:2012-1312-T g.chr18:77088179_77088180insCC uc002lmx.2 + ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Intron|ATP9B_uc002lmz.1_Intron NM_198531 NP_940933 KDM4B 23030 broad.mit.edu 37 19 5019306 5019317 + Intron DEL GGTGTTGGTGTG - - 2012-1349:2012-1312-T g.chr19:5019306_5019317delGGTGTTGGTGTG uc002mbq.3 + KDM4B_uc010xil.1_Intron|KDM4B_uc010xim.1_Intron NM_015015 NP_055830 FBN3 84467 broad.mit.edu 37 19 8150905 8150905 + Intron DEL A - - 2012-1349:2012-1312-T g.chr19:8150905delA uc002mjf.2 - FBN3_uc002mje.2_Intron NM_032447 NP_115823 NOTCH3 4854 broad.mit.edu 37 19 15285282 15285283 + Intron DEL CA - - 2012-1349:2012-1312-T g.chr19:15285282_15285283delCA uc002nan.2 - NM_000435 NP_000426 U2AF2 11338 broad.mit.edu 37 19 56181815 56181815 + Intron DEL C - - 2012-1349:2012-1312-T g.chr19:56181815delC uc002qlu.2 + U2AF2_uc002qlt.2_Intron NM_007279 NP_009210 U2AF2 11338 broad.mit.edu 37 19 56181848 56181849 + Intron INS - C C 2012-1349:2012-1312-T g.chr19:56181848_56181849insC uc002qlu.2 + U2AF2_uc002qlt.2_Intron NM_007279 NP_009210 U2AF2 11338 broad.mit.edu 37 19 56181864 56181865 + Intron INS - C C 2012-1349:2012-1312-T g.chr19:56181864_56181865insC uc002qlu.2 + U2AF2_uc002qlt.2_Intron NM_007279 NP_009210 U2AF2 11338 broad.mit.edu 37 19 56181884 56181884 + Intron DEL G - - rs66506071 2012-1349:2012-1312-T g.chr19:56181884delG uc002qlu.2 + U2AF2_uc002qlt.2_Intron NM_007279 NP_009210 U2AF2 11338 broad.mit.edu 37 19 56181900 56181901 + Intron INS - G G rs143152939;rs67974985 2012-1349:2012-1312-T g.chr19:56181900_56181901insG uc002qlu.2 + U2AF2_uc002qlt.2_Intron NM_007279 NP_009210 SNTG2 54221 broad.mit.edu 37 2 1282831 1282832 + Intron DEL CT - - 2012-1349:2012-1312-T g.chr2:1282831_1282832delCT uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 DYSF 8291 broad.mit.edu 37 2 71845170 71845171 + Intron DEL GT - - 2012-1349:2012-1312-T g.chr2:71845170_71845171delGT uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 DYSF 8291 broad.mit.edu 37 2 71845604 71845605 + Intron INS - GT GT rs146080337 2012-1349:2012-1312-T g.chr2:71845604_71845605insGT uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 DYSF 8291 broad.mit.edu 37 2 71845644 71845645 + Intron DEL GT - - 2012-1349:2012-1312-T g.chr2:71845644_71845645delGT uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 NFE2L2 4780 broad.mit.edu 37 2 178214803 178214804 + Intron INS - GT GT 2012-1349:2012-1312-T g.chr2:178214803_178214804insGT uc002uli.3 - LOC100130691_uc002ulk.1_Intron NM_001145412 NP_001138884 HDAC4 9759 broad.mit.edu 37 2 240154325 240154325 + Intron DEL C - - 2012-1349:2012-1312-T g.chr2:240154325delC uc002vyk.3 - HDAC4_uc010fyz.1_Intron|HDAC4_uc010zoa.1_Intron|HDAC4_uc010fza.2_Intron|HDAC4_uc002vyl.1_Intron NM_006037 NP_006028 HDAC4 9759 broad.mit.edu 37 2 240154605 240154605 + Intron DEL G - - 2012-1349:2012-1312-T g.chr2:240154605delG uc002vyk.3 - HDAC4_uc010fyz.1_Intron|HDAC4_uc010zoa.1_Intron|HDAC4_uc010fza.2_Intron|HDAC4_uc002vyl.1_Intron NM_006037 NP_006028 KIF1A 547 broad.mit.edu 37 2 241752033 241752034 + Intron INS - G G rs111752451 2012-1349:2012-1312-T g.chr2:241752033_241752034insG uc002vzy.2 - KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron NM_004321 NP_004312 KIF1A 547 broad.mit.edu 37 2 241752051 241752052 + Intron INS - A A 2012-1349:2012-1312-T g.chr2:241752051_241752052insA uc002vzy.2 - KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron NM_004321 NP_004312 THAP4 51078 broad.mit.edu 37 2 242559686 242559696 + Intron DEL GTGAGTGAGTC - - rs139685908;rs145259191 by1000genomes;by1000genomes 2012-1349:2012-1312-T g.chr2:242559686_242559696delGTGAGTGAGTC uc002wbt.2 - THAP4_uc002wbs.2_5'Flank NM_015963 NP_057047 ProSAPiP1 9762 broad.mit.edu 37 20 3148076 3148077 + 5'UTR INS - GCTCAGCTCA GCTCAGCTCA rs142857640 by1000genomes 2012-1349:2012-1312-T g.chr20:3148076_3148077insGCTCAGCTCA uc002wia.1 - 1 ProSAPiP1_uc002wib.1_Intron NM_014731 NP_055546 C20orf26 26074 broad.mit.edu 37 20 20337173 20337174 + Intron DEL GT - - 2012-1349:2012-1312-T g.chr20:20337173_20337174delGT uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 C20orf26 26074 broad.mit.edu 37 20 20337659 20337660 + Intron DEL TG - - 2012-1349:2012-1312-T g.chr20:20337659_20337660delTG uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 C20orf26 26074 broad.mit.edu 37 20 20338576 20338577 + Intron INS - TG TG 2012-1349:2012-1312-T g.chr20:20338576_20338577insTG uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 BMP7 655 broad.mit.edu 37 20 55793491 55793492 + Intron INS - TGTT TGTT rs149581669;rs34742226 by1000genomes 2012-1349:2012-1312-T g.chr20:55793491_55793492insTGTT uc010gip.1 - BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Intron NM_001719 NP_001710 CDH4 1002 broad.mit.edu 37 20 60140426 60140427 + Intron INS - A A 2012-1349:2012-1312-T g.chr20:60140426_60140427insA uc002ybn.1 + NM_001794 NP_001785 CDH4 1002 broad.mit.edu 37 20 60433233 60433234 + Intron INS - TGTC TGTC rs145658938 by1000genomes 2012-1349:2012-1312-T g.chr20:60433233_60433234insTGTC uc002ybn.1 + CDH4_uc002ybp.1_Intron NM_001794 NP_001785 CACNA1I 8911 broad.mit.edu 37 22 40014294 40014295 + Intron INS - TG TG rs116632682;rs140312275 2012-1349:2012-1312-T g.chr22:40014294_40014295insTG uc003ayc.2 + CACNA1I_uc003ayd.2_Intron|CACNA1I_uc003aye.2_Intron|CACNA1I_uc003ayf.2_Intron NM_021096 NP_066919 ADCY5 111 broad.mit.edu 37 3 123102773 123102778 + Intron DEL CACACA - - 2012-1349:2012-1312-T g.chr3:123102773_123102778delCACACA uc003egh.1 - ADCY5_uc003egg.1_Intron|ADCY5_uc003egi.1_Intron NM_183357 NP_899200 ZIC1 7545 broad.mit.edu 37 3 147124643 147124644 + 5'Flank DEL TG - - 2012-1349:2012-1312-T g.chr3:147124643_147124644delTG uc003ewe.2 + ZIC4_uc011bno.1_5'Flank|ZIC4_uc003ewd.1_5'Flank NM_003412 NP_003403 MUC4 4585 broad.mit.edu 37 3 195539326 195539327 + 5'Flank INS - TCAGTG TCAGTG 2012-1349:2012-1312-T g.chr3:195539326_195539327insTCAGTG uc011bto.1 - MUC4_uc003fvo.2_5'Flank|MUC4_uc003fvp.2_5'Flank|MUC4_uc010hzv.2_5'Flank NM_018406 NP_060876 FGFR3 2261 broad.mit.edu 37 4 1809111 1809112 + 3'UTR DEL TG - - 2012-1349:2012-1312-T g.chr4:1809111_1809112delTG uc003gdr.3 + 18 FGFR3_uc003gdu.2_3'UTR|FGFR3_uc003gds.3_3'UTR|FGFR3_uc003gdq.3_3'UTR NM_000142 NP_000133 ABLIM2 84448 broad.mit.edu 37 4 8133444 8133444 + Intron DEL T - - 2012-1349:2012-1312-T g.chr4:8133444delT uc003gko.2 - ABLIM2_uc003gkj.3_Intron|ABLIM2_uc003gkm.3_Intron|ABLIM2_uc003gkp.2_Intron|ABLIM2_uc003gkq.2_Intron|ABLIM2_uc003gkr.2_Intron|ABLIM2_uc003gks.3_Intron NM_001130084 NP_001123556 DSPP 1834 broad.mit.edu 37 4 88536543 88536551 + In_Frame_Del DEL ACAGCAGTG - - rs111456637;rs145589857 by1000genomes 2012-1349:2012-1312-T g.chr4:88536543_88536551delACAGCAGTG uc003hqu.2 + 5 2849_2857 c.2729_2737delACAGCAGTG c.(2728-2739)AACAGCAGTGAC>AAC p.SSD914del NM_014208 NP_055023 CEP72 55722 broad.mit.edu 37 5 648999 649000 + Intron INS - G G rs35526508 2012-1349:2012-1312-T g.chr5:648999_649000insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649511 649512 + Intron INS - G G 2012-1349:2012-1312-T g.chr5:649511_649512insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649791 649791 + Intron DEL G - - 2012-1349:2012-1312-T g.chr5:649791delG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650107 650107 + Intron DEL G - - 2012-1349:2012-1312-T g.chr5:650107delG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650241 650241 + Intron DEL G - - 2012-1349:2012-1312-T g.chr5:650241delG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650295 650296 + Intron INS - TG TG 2012-1349:2012-1312-T g.chr5:650295_650296insTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650330 650331 + Intron INS - G G 2012-1349:2012-1312-T g.chr5:650330_650331insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650385 650385 + Intron DEL G - - 2012-1349:2012-1312-T g.chr5:650385delG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650451 650452 + Intron INS - G G 2012-1349:2012-1312-T g.chr5:650451_650452insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650603 650603 + Intron DEL G - - 2012-1349:2012-1312-T g.chr5:650603delG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650906 650907 + Intron DEL TG - - 2012-1349:2012-1312-T g.chr5:650906_650907delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650916 650916 + Intron DEL G - - 2012-1349:2012-1312-T g.chr5:650916delG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650929 650930 + Intron INS - G G 2012-1349:2012-1312-T g.chr5:650929_650930insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 651026 651026 + Intron DEL G - - 2012-1349:2012-1312-T g.chr5:651026delG uc003jbf.2 + NM_018140 NP_060610 NKD2 85409 broad.mit.edu 37 5 1037067 1037067 + Intron DEL T - - 2012-1349:2012-1312-T g.chr5:1037067delT uc003jbt.1 + NKD2_uc010itf.1_Intron NM_033120 NP_149111 PIK3R1 5295 broad.mit.edu 37 5 67584340 67584341 + Intron INS - CGAGC CGAGC rs138814985;rs72310992 by1000genomes 2012-1349:2012-1312-T g.chr5:67584340_67584341insCGAGC uc003jva.2 + PIK3R1_uc003jvb.2_Intron|PIK3R1_uc003jvc.2_5'UTR|PIK3R1_uc003jvd.2_5'Flank|PIK3R1_uc003jve.2_5'Flank NM_181523 NP_852664 SLCO4C1 353189 broad.mit.edu 37 5 101632502 101632503 + 5'Flank INS - T T rs144652795;rs35220083 by1000genomes 2012-1349:2012-1312-T g.chr5:101632502_101632503insT uc003knm.2 - NM_180991 NP_851322 COL23A1 91522 broad.mit.edu 37 5 178012657 178012658 + Intron INS - G G 2012-1349:2012-1312-T g.chr5:178012657_178012658insG uc003mje.2 - NM_173465 NP_775736 SLC22A23 63027 broad.mit.edu 37 6 3310661 3310661 + Intron DEL C - - 2012-1349:2012-1312-T g.chr6:3310661delC uc003mvm.3 - SLC22A23_uc003mvn.3_Intron|SLC22A23_uc003mvo.3_Intron|SLC22A23_uc003mvp.1_Intron|SLC22A23_uc010jnn.2_Intron NM_015482 NP_056297 HLA-G 3135 broad.mit.edu 37 6 29795082 29795082 + Intron DEL A - - 2012-1349:2012-1312-T g.chr6:29795082delA uc003nnw.2 + HLA-G_uc011dmb.1_5'Flank|HLA-G_uc003raj.3_Intron|HLA-G_uc003nnz.3_5'Flank|HLA-G_uc010jrn.2_5'Flank|HLA-G_uc003nny.3_5'Flank|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 HLA-G 3135 broad.mit.edu 37 6 29854983 29854983 + Intron DEL C - - rs146815445 2012-1349:2012-1312-T g.chr6:29854983delC uc011dmb.1 + HLA-H_uc003nod.2_5'Flank|HLA-H_uc010jro.2_5'Flank NM_002127 NP_002118 MDGA1 266727 broad.mit.edu 37 6 37611883 37611884 + Intron INS - C C 2012-1349:2012-1312-T g.chr6:37611883_37611884insC uc003onu.1 - MDGA1_uc003onv.1_Intron NM_153487 NP_705691 SYNE1 23345 broad.mit.edu 37 6 152685865 152685866 + Intron INS - AGGA AGGA rs6911574 by1000genomes 2012-1349:2012-1312-T g.chr6:152685865_152685866insAGGA uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kja.1_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152685873 152685873 + Intron DEL A - - 2012-1349:2012-1312-T g.chr6:152685873delA uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kja.1_Intron NM_182961 NP_892006 RPS6KA2 6196 broad.mit.edu 37 6 166829611 166829612 + Intron INS - TCTC TCTC rs59404666 2012-1349:2012-1312-T g.chr6:166829611_166829612insTCTC uc003qvb.1 - RPS6KA2_uc011ego.1_Intron|RPS6KA2_uc010kkl.1_Intron|RPS6KA2_uc003qvc.1_Intron|RPS6KA2_uc003qvd.1_Intron|RPS6KA2_uc010kkk.1_Intron NM_021135 NP_066958 HEATR2 54919 broad.mit.edu 37 7 782335 782336 + Intron DEL AT - - rs66764195 2012-1349:2012-1312-T g.chr7:782335_782336delAT uc010krz.1 + HEATR2_uc003siz.2_Intron NM_017802 NP_060272 C7orf50 84310 broad.mit.edu 37 7 1055860 1055860 + Intron DEL C - - 2012-1349:2012-1312-T g.chr7:1055860delC uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 C7orf50 84310 broad.mit.edu 37 7 1055862 1055862 + Intron DEL C - - 2012-1349:2012-1312-T g.chr7:1055862delC uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 C7orf50 84310 broad.mit.edu 37 7 1055925 1055926 + Intron DEL GT - - rs147242711 by1000genomes 2012-1349:2012-1312-T g.chr7:1055925_1055926delGT uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 C7orf50 84310 broad.mit.edu 37 7 1056616 1056625 + Intron DEL CAGCGCACAG - - rs113262391;rs74835286 2012-1349:2012-1312-T g.chr7:1056616_1056625delCAGCGCACAG uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 PTPRN2 5799 broad.mit.edu 37 7 157863283 157863284 + Intron INS - CT CT 2012-1349:2012-1312-T g.chr7:157863283_157863284insCT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc003wnt.1_5'Flank NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157863286 157863287 + Intron INS - G G 2012-1349:2012-1312-T g.chr7:157863286_157863287insG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc003wnt.1_5'Flank NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157864791 157864792 + Intron INS - G G 2012-1349:2012-1312-T g.chr7:157864791_157864792insG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc003wnt.1_5'Flank NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158316431 158316433 + Intron DEL GTC - - 2012-1349:2012-1312-T g.chr7:158316431_158316433delGTC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158316488 158316490 + Intron DEL GTC - - 2012-1349:2012-1312-T g.chr7:158316488_158316490delGTC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 158316507 158316508 + Intron INS - GTC GTC 2012-1349:2012-1312-T g.chr7:158316507_158316508insGTC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PEBP4 157310 broad.mit.edu 37 8 22623306 22623307 + Intron INS - A A rs61315444;rs35035196 2012-1349:2012-1312-T g.chr8:22623306_22623307insA uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623307 22623308 + Intron INS - TC TC rs35035196;rs56184904 2012-1349:2012-1312-T g.chr8:22623307_22623308insTC uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623337 22623338 + Intron INS - A A rs71834123 2012-1349:2012-1312-T g.chr8:22623337_22623338insA uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623338 22623339 + Intron INS - TC TC rs71834123 2012-1349:2012-1312-T g.chr8:22623338_22623339insTC uc003xcn.1 - NM_144962 NP_659399 ZNF16 7564 broad.mit.edu 37 8 146172247 146172247 + Intron DEL T - - 2012-1349:2012-1312-T g.chr8:146172247delT uc003zet.2 - ZNF16_uc003zeu.2_Intron NM_001029976 NP_001025147 ZNF16 7564 broad.mit.edu 37 8 146172777 146172778 + Intron INS - T T 2012-1349:2012-1312-T g.chr8:146172777_146172778insT uc003zet.2 - ZNF16_uc003zeu.2_Intron NM_001029976 NP_001025147 SHC3 53358 broad.mit.edu 37 9 91674237 91674249 + Intron DEL GTGGAGGATGGTG - - rs139799496 by1000genomes 2012-1349:2012-1312-T g.chr9:91674237_91674249delGTGGAGGATGGTG uc004aqg.2 - NM_016848 NP_058544 COL5A1 1289 broad.mit.edu 37 9 137639678 137639679 + Intron INS - AT AT rs150926060;rs145402801 by1000genomes 2012-1349:2012-1312-T g.chr9:137639678_137639679insAT uc004cfe.2 + NM_000093 NP_000084 NOTCH1 4851 broad.mit.edu 37 9 139403240 139403241 + Intron INS - G G rs149368682;rs68024424 by1000genomes 2012-1349:2012-1312-T g.chr9:139403240_139403241insG uc004chz.2 - NOTCH1_uc004cia.1_Intron NM_017617 NP_060087 CSF2RA 1438 broad.mit.edu 37 X 1387352 1387353 + 5'Flank INS - CA CA 2012-1349:2012-1312-T g.chrX:1387352_1387353insCA uc010nct.2 + CSF2RA_uc011mhb.1_5'Flank|CSF2RA_uc004cpq.2_5'Flank|CSF2RA_uc004cpn.2_5'Flank|CSF2RA_uc004cpo.2_5'Flank|CSF2RA_uc010ncu.2_5'Flank|CSF2RA_uc011mhc.1_5'Flank|CSF2RA_uc004cpp.2_5'Flank NM_001161529 NP_001155001 CSF2RA 1438 broad.mit.edu 37 X 1387373 1387374 + 5'Flank DEL TC - - 2012-1349:2012-1312-T g.chrX:1387373_1387374delTC uc010nct.2 + CSF2RA_uc011mhb.1_5'Flank|CSF2RA_uc004cpq.2_5'Flank|CSF2RA_uc004cpn.2_5'Flank|CSF2RA_uc004cpo.2_5'Flank|CSF2RA_uc010ncu.2_5'Flank|CSF2RA_uc011mhc.1_5'Flank|CSF2RA_uc004cpp.2_5'Flank NM_001161529 NP_001155001 FAIM3 9214 broad.mit.edu 37 1 207098072 207098073 + 5'Flank INS - GT GT rs141007002 by1000genomes 2012-1351:2012-338-T g.chr1:207098072_207098073insGT uc001hey.2 - FAIM3_uc010prz.1_5'Flank|FAIM3_uc010psa.1_5'Flank|FAIM3_uc010psb.1_5'Flank NM_005449 NP_005440 GRK5 2869 broad.mit.edu 37 10 121051466 121051467 + Intron INS - TCT TCT 2012-1351:2012-338-T g.chr10:121051466_121051467insTCT uc001led.2 + GRK5_uc009xzh.2_Intron|GRK5_uc010qta.1_Intron NM_005308 NP_005299 SLC22A12 116085 broad.mit.edu 37 11 64363702 64363703 + Intron INS - A A 2012-1351:2012-338-T g.chr11:64363702_64363703insA uc001oam.1 + SLC22A12_uc009ypr.1_Intron|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.2_Intron NM_144585 NP_653186 RIMBP2 23504 broad.mit.edu 37 12 131068771 131068771 + Intron DEL T - - 2012-1351:2012-338-T g.chr12:131068771delT uc001uim.2 - COL4A2 1284 broad.mit.edu 37 13 111133880 111133880 + Intron DEL T - - rs74198691 2012-1351:2012-338-T g.chr13:111133880delT uc001vqx.2 + NM_001846 NP_001837 GAS6 2621 broad.mit.edu 37 13 114536556 114536557 + Intron INS - GTGTGACAGGTCG GTGTGACAGGTCG 2012-1351:2012-338-T g.chr13:114536556_114536557insGTGTGACAGGTCG uc001vud.2 - GAS6_uc001vug.2_5'UTR|GAS6_uc001vuf.2_Intron NM_000820 NP_000811 B2M 567 broad.mit.edu 37 15 45009522 45009523 + Intron INS - AA AA rs150593433;rs3042006 by1000genomes 2012-1351:2012-338-T g.chr15:45009522_45009523insAA uc001zuc.2 + NM_004048 NP_004039 PHKG2 5261 broad.mit.edu 37 16 30760464 30760466 + Intron DEL TGC - - rs72143067 2012-1351:2012-338-T g.chr16:30760464_30760466delTGC uc002dzk.1 + PHKG2_uc002dzi.1_Intron|PHKG2_uc002dzj.1_Intron|PHKG2_uc002dzl.1_Intron NM_000294 NP_000285 BAHCC1 57597 broad.mit.edu 37 17 79390371 79390372 + Intron DEL GT - - rs79132913 2012-1351:2012-338-T g.chr17:79390371_79390372delGT uc002kaf.2 + NM_001080519 NP_001073988 PTPRM 5797 broad.mit.edu 37 18 7692012 7692013 + Intron INS - G G 2012-1351:2012-338-T g.chr18:7692012_7692013insG uc002knn.3 + PTPRM_uc010dkv.2_Intron NM_002845 NP_002836 KCNG2 26251 broad.mit.edu 37 18 77625340 77625341 + Intron INS - GA GA rs10695988 2012-1351:2012-338-T g.chr18:77625340_77625341insGA uc010xfl.1 + NM_012283 NP_036415 HDGFRP2 84717 broad.mit.edu 37 19 4492958 4492959 + Intron INS - TATC TATC 2012-1351:2012-338-T g.chr19:4492958_4492959insTATC uc002mao.2 + HDGFRP2_uc002map.2_Intron|HDGFRP2_uc010dtz.1_Intron NM_001001520 NP_001001520 SH3YL1 26751 broad.mit.edu 37 2 235414 235415 + Intron INS - GCA GCA 2012-1351:2012-338-T g.chr2:235414_235415insGCA uc002qvx.2 - SH3YL1_uc002qvy.2_Intron|SH3YL1_uc002qvz.2_Intron|SH3YL1_uc002qwa.2_Intron|SH3YL1_uc010ewe.2_Intron|SH3YL1_uc002qvu.2_Intron|SH3YL1_uc002qvv.2_Intron|SH3YL1_uc002qvw.2_Intron NM_015677 NP_056492 FBLN7 129804 broad.mit.edu 37 2 112918282 112918283 + Intron DEL CA - - rs5833435;rs3080966 2012-1351:2012-338-T g.chr2:112918282_112918283delCA uc002tho.1 + FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Intron|FBLN7_uc010fkj.1_Intron NM_153214 NP_694946 CDH4 1002 broad.mit.edu 37 20 60140461 60140462 + Intron INS - GGTGCTCTT GGTGCTCTT rs58450232 2012-1351:2012-338-T g.chr20:60140461_60140462insGGTGCTCTT uc002ybn.1 + NM_001794 NP_001785 COL18A1 80781 broad.mit.edu 37 21 46857234 46857235 + Intron INS - CA CA 2012-1351:2012-338-T g.chr21:46857234_46857235insCA uc002zhg.2 + NM_130445 NP_569712 COL18A1 80781 broad.mit.edu 37 21 46920816 46920818 + Intron DEL GGG - - 2012-1351:2012-338-T g.chr21:46920816_46920818delGGG uc011afs.1 + COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Intron|SLC19A1_uc010gpy.1_Intron NM_130444 NP_569711 MPPED1 758 broad.mit.edu 37 22 43828768 43828768 + Intron DEL A - - 2012-1351:2012-338-T g.chr22:43828768delA uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 PHF21B 112885 broad.mit.edu 37 22 45280013 45280015 + Intron DEL ATT - - rs143123029;rs13055909 2012-1351:2012-338-T g.chr22:45280013_45280015delATT uc003bfn.2 - PHF21B_uc003bfm.2_Intron|PHF21B_uc011aqk.1_Intron|PHF21B_uc011aql.1_Intron NM_138415 NP_612424 TTC38 55020 broad.mit.edu 37 22 46686484 46686484 + Intron DEL A - - rs71647525 2012-1351:2012-338-T g.chr22:46686484delA uc003bhi.2 + TTC38_uc011aqx.1_Intron NM_017931 NP_060401 TTC38 55020 broad.mit.edu 37 22 46686487 46686488 + Intron DEL GT - - 2012-1351:2012-338-T g.chr22:46686487_46686488delGT uc003bhi.2 + TTC38_uc011aqx.1_Intron NM_017931 NP_060401 SENP5 205564 broad.mit.edu 37 3 196625647 196625648 + Intron DEL TC - - 2012-1351:2012-338-T g.chr3:196625647_196625648delTC uc003fwz.3 + SENP5_uc011bty.1_Intron NM_152699 NP_689912 SH3BP2 6452 broad.mit.edu 37 4 2828332 2828333 + Intron DEL TG - - 2012-1351:2012-338-T g.chr4:2828332_2828333delTG uc003gfi.3 + SH3BP2_uc011bvp.1_Intron|SH3BP2_uc003gfj.3_Intron|SH3BP2_uc003gfk.3_Intron|SH3BP2_uc003gfl.3_Intron|SH3BP2_uc003gfm.3_5'UTR NM_001122681 NP_001116153 SORCS2 57537 broad.mit.edu 37 4 7456222 7456223 + Intron DEL GT - - 2012-1351:2012-338-T g.chr4:7456222_7456223delGT uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 SORCS2 57537 broad.mit.edu 37 4 7726199 7726201 + Intron DEL TGA - - 2012-1351:2012-338-T g.chr4:7726199_7726201delTGA uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 TET2 54790 broad.mit.edu 37 4 106163096 106163096 + Intron DEL T - - rs11284258 2012-1351:2012-338-T g.chr4:106163096delT uc003hxk.2 + TET2_uc011cez.1_Intron|TET2_uc003hxj.2_Intron|TET2_uc010ilp.1_3'UTR|TET2_uc003hxi.1_3'UTR NM_001127208 NP_001120680 PALLD 23022 broad.mit.edu 37 4 169600708 169600709 + Intron DEL GT - - 2012-1351:2012-338-T g.chr4:169600708_169600709delGT uc011cjx.1 + PALLD_uc003iru.2_Intron|PALLD_uc003irv.2_Intron NM_016081 NP_057165 SORBS2 8470 broad.mit.edu 37 4 186748908 186748913 + Intron DEL CATCAC - - rs139462423 2012-1351:2012-338-T g.chr4:186748908_186748913delCATCAC uc003iyl.2 - SORBS2_uc003iym.2_Intron|SORBS2_uc011cky.1_Intron NM_021069 NP_066547 FAT1 2195 broad.mit.edu 37 4 187647634 187647635 + 5'Flank INS - GTCCCTAACC GTCCCTAACC rs146215336 by1000genomes 2012-1351:2012-338-T g.chr4:187647634_187647635insGTCCCTAACC uc003izf.2 - FAT1_uc010iso.1_Translation_Start_Site NM_005245 NP_005236 AHRR 57491 broad.mit.edu 37 5 345122 345124 + Intron DEL TGA - - 2012-1351:2012-338-T g.chr5:345122_345124delTGA uc003jav.2 + AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Intron NM_020731 NP_065782 CEP72 55722 broad.mit.edu 37 5 649915 649916 + Intron DEL TG - - 2012-1351:2012-338-T g.chr5:649915_649916delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650815 650815 + Intron DEL A - - 2012-1351:2012-338-T g.chr5:650815delA uc003jbf.2 + NM_018140 NP_060610 SLC6A3 6531 broad.mit.edu 37 5 1423046 1423047 + Intron DEL CA - - 2012-1351:2012-338-T g.chr5:1423046_1423047delCA uc003jck.2 - NM_001044 NP_001035 ODZ2 57451 broad.mit.edu 37 5 166926947 166926948 + Intron DEL GT - - 2012-1351:2012-338-T g.chr5:166926947_166926948delGT uc010jjd.2 + NM_001122679 NP_001116151 HLA-G 3135 broad.mit.edu 37 6 29909770 29909772 + Intron DEL AAC - - rs67139508;rs71999680 2012-1351:2012-338-T g.chr6:29909770_29909772delAAC uc011dmb.1 + HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'Flank|HLA-A_uc003nok.2_5'Flank|HLA-A_uc003nol.2_5'Flank|HLA-A_uc003non.2_5'Flank|HLA-A_uc003noo.2_5'Flank|HLA-A_uc010jrr.2_5'Flank|HLA-A_uc003nom.2_5'Flank|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank NM_002127 NP_002118 ADAP1 11033 broad.mit.edu 37 7 945347 945347 + Intron DEL A - - 2012-1351:2012-338-T g.chr7:945347delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PTPRN2 5799 broad.mit.edu 37 7 157524274 157524275 + Intron DEL TT - - 2012-1351:2012-338-T g.chr7:157524274_157524275delTT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157524340 157524341 + Intron DEL TC - - 2012-1351:2012-338-T g.chr7:157524340_157524341delTC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157863231 157863233 + Intron DEL TGG - - 2012-1351:2012-338-T g.chr7:157863231_157863233delTGG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc003wnt.1_5'Flank NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157863256 157863256 + Intron DEL G - - 2012-1351:2012-338-T g.chr7:157863256delG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc003wnt.1_5'Flank NM_002847 NP_002838 PEBP4 157310 broad.mit.edu 37 8 22623306 22623307 + Intron INS - A A rs61315444;rs35035196 2012-1351:2012-338-T g.chr8:22623306_22623307insA uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623307 22623308 + Intron INS - TC TC rs35035196;rs56184904 2012-1351:2012-338-T g.chr8:22623307_22623308insTC uc003xcn.1 - NM_144962 NP_659399 UBAP2 55833 broad.mit.edu 37 9 34016275 34016275 + Intron DEL A - - 2012-1351:2012-338-T g.chr9:34016275delA uc003ztq.1 - UBAP2_uc011loc.1_Intron|UBAP2_uc011lod.1_Intron|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Intron|UBAP2_uc011log.1_Intron|UBAP2_uc003ztr.2_Intron NM_018449 NP_060919 UBAP2 55833 broad.mit.edu 37 9 34016282 34016283 + Intron DEL GG - - 2012-1351:2012-338-T g.chr9:34016282_34016283delGG uc003ztq.1 - UBAP2_uc011loc.1_Intron|UBAP2_uc011lod.1_Intron|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Intron|UBAP2_uc011log.1_Intron|UBAP2_uc003ztr.2_Intron NM_018449 NP_060919 UBAP2 55833 broad.mit.edu 37 9 34016287 34016287 + Intron DEL A - - rs145009226 by1000genomes 2012-1351:2012-338-T g.chr9:34016287delA uc003ztq.1 - UBAP2_uc011loc.1_Intron|UBAP2_uc011lod.1_Intron|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Intron|UBAP2_uc011log.1_Intron|UBAP2_uc003ztr.2_Intron NM_018449 NP_060919 FANCC 2176 broad.mit.edu 37 9 98009495 98009496 + Intron DEL GT - - 2012-1351:2012-338-T g.chr9:98009495_98009496delGT uc004avh.2 - FANCC_uc004avi.3_Intron|FANCC_uc010mrm.1_Intron|FANCC_uc011lul.1_Intron NM_000136 NP_000127 PRRX2 51450 broad.mit.edu 37 9 132482378 132482378 + Intron DEL A - - rs34734808 2012-1351:2012-338-T g.chr9:132482378delA uc004byh.2 + NM_016307 NP_057391 TTF1 7270 broad.mit.edu 37 9 135252875 135252878 + Intron DEL GTGT - - 2012-1351:2012-338-T g.chr9:135252875_135252878delGTGT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 COL5A1 1289 broad.mit.edu 37 9 137576972 137576973 + Intron INS - CATT CATT rs141729483 2012-1351:2012-338-T g.chr9:137576972_137576973insCATT uc004cfe.2 + NM_000093 NP_000084 COL5A1 1289 broad.mit.edu 37 9 137577276 137577276 + Intron DEL C - - 2012-1351:2012-338-T g.chr9:137577276delC uc004cfe.2 + NM_000093 NP_000084 SHOX 6473 broad.mit.edu 37 X 583897 583901 + 5'Flank DEL CGAGA - - 2012-1351:2012-338-T g.chrX:583897_583901delCGAGA uc004cph.1 + SHOX_uc004cpi.2_5'Flank NM_000451 NP_000442 SHOX 6473 broad.mit.edu 37 X 603651 603652 + Intron INS - T T 2012-1351:2012-338-T g.chrX:603651_603652insT uc004cph.1 + SHOX_uc004cpi.2_Intron NM_000451 NP_000442 AGRN 375790 broad.mit.edu 37 1 966012 966013 + Intron DEL GA - - 2012-1356:2012-351-T g.chr1:966012_966013delGA uc001ack.1 + NM_198576 NP_940978 AGRN 375790 broad.mit.edu 37 1 966148 966149 + Intron DEL TG - - 2012-1356:2012-351-T g.chr1:966148_966149delTG uc001ack.1 + NM_198576 NP_940978 SCNN1D 6339 broad.mit.edu 37 1 1224025 1224026 + Intron INS - CC CC 2012-1356:2012-351-T g.chr1:1224025_1224026insCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 SCNN1D 6339 broad.mit.edu 37 1 1225515 1225516 + Intron DEL TC - - 2012-1356:2012-351-T g.chr1:1225515_1225516delTC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 PRKCZ 5590 broad.mit.edu 37 1 2079404 2079404 + Intron DEL C - - 2012-1356:2012-351-T g.chr1:2079404delC uc001aiq.2 + PRKCZ_uc001air.2_Intron|PRKCZ_uc010nyw.1_Intron|PRKCZ_uc001ais.2_Intron|PRKCZ_uc009vla.2_Intron|PRKCZ_uc010nyx.1_Intron|PRKCZ_uc009vlb.2_Intron NM_002744 NP_002735 MORN1 79906 broad.mit.edu 37 1 2280297 2280298 + Intron DEL GT - - 2012-1356:2012-351-T g.chr1:2280297_2280298delGT uc001ajb.1 - MORN1_uc009vld.2_Intron NM_024848 NP_079124 PRDM16 63976 broad.mit.edu 37 1 3187225 3187225 + Intron DEL A - - 2012-1356:2012-351-T g.chr1:3187225delA uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 PRDM16 63976 broad.mit.edu 37 1 3187228 3187228 + Intron DEL A - - 2012-1356:2012-351-T g.chr1:3187228delA uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 PRDM16 63976 broad.mit.edu 37 1 3193307 3193307 + Intron DEL C - - rs35451643 2012-1356:2012-351-T g.chr1:3193307delC uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 CHD5 26038 broad.mit.edu 37 1 6220169 6220170 + Intron INS - AA AA 2012-1356:2012-351-T g.chr1:6220169_6220170insAA uc001amb.1 - NM_015557 NP_056372 HIVEP3 59269 broad.mit.edu 37 1 42011049 42011050 + Intron INS - ACC ACC rs142601818 2012-1356:2012-351-T g.chr1:42011049_42011050insACC uc001cgz.3 - HIVEP3_uc001cha.3_Intron|HIVEP3_uc001cgy.2_Intron NM_024503 NP_078779 CABC1 56997 broad.mit.edu 37 1 227148266 227148268 + Intron DEL TGG - - 2012-1356:2012-351-T g.chr1:227148266_227148268delTGG uc001hqm.1 + CABC1_uc010pvp.1_Intron|CABC1_uc001hqn.1_Intron|CABC1_uc009xeq.1_Intron|CABC1_uc010pvq.1_Intron NM_020247 NP_064632 ADARB2 105 broad.mit.edu 37 10 1493847 1493866 + Intron DEL AGGGGACACACCTGTATAAC - - rs149920277;rs67493661;rs78896586;rs61834361 2012-1356:2012-351-T g.chr10:1493847_1493866delAGGGGACACACCTGTATAAC uc009xhq.2 - NM_018702 NP_061172 CCDC6 8030 broad.mit.edu 37 10 61641962 61641963 + Intron INS - CCAGGGAGAA CCAGGGAGAA 2012-1356:2012-351-T g.chr10:61641962_61641963insCCAGGGAGAA uc001jks.3 - NM_005436 NP_005427 COL17A1 1308 broad.mit.edu 37 10 105795583 105795588 + Intron DEL TGTGTA - - rs116948433 2012-1356:2012-351-T g.chr10:105795583_105795588delTGTGTA uc001kxr.2 - NM_000494 NP_000485 KNDC1 85442 broad.mit.edu 37 10 135003839 135003840 + Intron INS - AAAC AAAC rs113088617 2012-1356:2012-351-T g.chr10:135003839_135003840insAAAC uc001llz.1 + KNDC1_uc001lma.1_Intron NM_152643 NP_689856 CD5 921 broad.mit.edu 37 11 60867579 60867579 + 5'Flank DEL T - - 2012-1356:2012-351-T g.chr11:60867579delT uc009ynk.2 + NM_014207 NP_055022 CD5 921 broad.mit.edu 37 11 60867596 60867597 + 5'Flank DEL TT - - 2012-1356:2012-351-T g.chr11:60867596_60867597delTT uc009ynk.2 + NM_014207 NP_055022 CD5 921 broad.mit.edu 37 11 60867604 60867606 + 5'Flank DEL CAT - - 2012-1356:2012-351-T g.chr11:60867604_60867606delCAT uc009ynk.2 + NM_014207 NP_055022 FAT3 120114 broad.mit.edu 37 11 92438792 92438792 + Intron DEL G - - 2012-1356:2012-351-T g.chr11:92438792delG uc001pdj.3 + NM_001008781 NP_001008781 FAT3 120114 broad.mit.edu 37 11 92438800 92438803 + Intron DEL GTGA - - 2012-1356:2012-351-T g.chr11:92438800_92438803delGTGA uc001pdj.3 + NM_001008781 NP_001008781 FAT3 120114 broad.mit.edu 37 11 92438807 92438810 + Intron DEL TGGT - - rs145584143 by1000genomes 2012-1356:2012-351-T g.chr11:92438807_92438810delTGGT uc001pdj.3 + NM_001008781 NP_001008781 IGSF9B 22997 broad.mit.edu 37 11 133802697 133802698 + Intron DEL AG - - 2012-1356:2012-351-T g.chr11:133802697_133802698delAG uc001qgx.3 - IGSF9B_uc001qgy.1_Intron NM_014987 NP_055802 KSR2 283455 broad.mit.edu 37 12 118210081 118210082 + Intron DEL CA - - 2012-1356:2012-351-T g.chr12:118210081_118210082delCA uc001two.2 - NM_173598 NP_775869 TMEM120B 144404 broad.mit.edu 37 12 122185579 122185580 + Intron INS - CA CA 2012-1356:2012-351-T g.chr12:122185579_122185580insCA uc001ubc.3 + TMEM120B_uc009zxh.2_Intron NM_001080825 NP_001074294 GPR133 283383 broad.mit.edu 37 12 131578501 131578502 + Intron INS - C C 2012-1356:2012-351-T g.chr12:131578501_131578502insC uc001uit.3 + GPR133_uc010tbm.1_Intron|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Intron NM_198827 NP_942122 COL4A2 1284 broad.mit.edu 37 13 111133880 111133880 + Intron DEL T - - rs74198691 2012-1356:2012-351-T g.chr13:111133880delT uc001vqx.2 + NM_001846 NP_001837 TTC7B 145567 broad.mit.edu 37 14 91039930 91039930 + Intron DEL C - - 2012-1356:2012-351-T g.chr14:91039930delC uc001xyp.2 - TTC7B_uc001xyo.2_Intron|TTC7B_uc010ats.2_Intron NM_001010854 NP_001010854 KIF26A 26153 broad.mit.edu 37 14 104631539 104631540 + Intron DEL TC - - rs139275359 by1000genomes 2012-1356:2012-351-T g.chr14:104631539_104631540delTC uc001yos.3 + NM_015656 NP_056471 KIF26A 26153 broad.mit.edu 37 14 104631973 104631974 + Intron DEL TG - - 2012-1356:2012-351-T g.chr14:104631973_104631974delTG uc001yos.3 + NM_015656 NP_056471 KIF26A 26153 broad.mit.edu 37 14 104631988 104631989 + Intron INS - TG TG rs148671298 by1000genomes 2012-1356:2012-351-T g.chr14:104631988_104631989insTG uc001yos.3 + NM_015656 NP_056471 INF2 64423 broad.mit.edu 37 14 105187397 105187404 + Intron DEL CGTAGTCT - - rs72130729;rs66700474 2012-1356:2012-351-T g.chr14:105187397_105187404delCGTAGTCT uc010tyi.1 + NM_022489 NP_071934 ATP10A 57194 broad.mit.edu 37 15 26003761 26003764 + Intron DEL CTAA - - 2012-1356:2012-351-T g.chr15:26003761_26003764delCTAA uc010ayu.2 - NM_024490 NP_077816 PIGQ 9091 broad.mit.edu 37 16 621538 621539 + Intron INS - TG TG rs143811797;rs72288829 by1000genomes 2012-1356:2012-351-T g.chr16:621538_621539insTG uc002cho.2 + PIGQ_uc010bqw.2_Intron|PIGQ_uc002chm.2_Intron|PIGQ_uc002chn.2_Intron|PIGQ_uc010uui.1_5'Flank NM_148920 NP_683721 LMF1 64788 broad.mit.edu 37 16 907868 907869 + Intron INS - A A 2012-1356:2012-351-T g.chr16:907868_907869insA uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 908029 908030 + Intron INS - C C 2012-1356:2012-351-T g.chr16:908029_908030insC uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 LMF1 64788 broad.mit.edu 37 16 908309 908309 + Intron DEL C - - 2012-1356:2012-351-T g.chr16:908309delC uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 KLHDC4 54758 broad.mit.edu 37 16 87772164 87772165 + Intron DEL CA - - rs144225892 by1000genomes 2012-1356:2012-351-T g.chr16:87772164_87772165delCA uc002fki.2 - KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Intron|KLHDC4_uc002fkk.2_Intron|KLHDC4_uc002fkl.2_Intron|KLHDC4_uc010chu.1_Intron NM_017566 NP_060036 TIMM22 29928 broad.mit.edu 37 17 897438 897439 + 5'Flank INS - C C 2012-1356:2012-351-T g.chr17:897438_897439insC uc002fsc.2 + NM_013337 NP_037469 ITGAE 3682 broad.mit.edu 37 17 3699403 3699404 + Intron INS - TGTG TGTG rs36045415;rs146559224 2012-1356:2012-351-T g.chr17:3699403_3699404insTGTG uc002fwo.3 - NM_002208 NP_002199 ITGAE 3682 broad.mit.edu 37 17 3699443 3699444 + Intron DEL GT - - rs71155807 2012-1356:2012-351-T g.chr17:3699443_3699444delGT uc002fwo.3 - NM_002208 NP_002199 RPTOR 57521 broad.mit.edu 37 17 78904126 78904131 + Intron DEL CTCATC - - rs71886122 2012-1356:2012-351-T g.chr17:78904126_78904131delCTCATC uc002jyt.1 + RPTOR_uc010wug.1_Intron NM_020761 NP_065812 AATK 9625 broad.mit.edu 37 17 79114717 79114724 + Intron DEL CCGTGGGA - - rs55658169;rs57924480 2012-1356:2012-351-T g.chr17:79114717_79114724delCCGTGGGA uc010dia.2 - NM_001080395 NP_001073864 CD7 924 broad.mit.edu 37 17 80276492 80276493 + 5'Flank INS - AT AT rs139487339;rs67389574 by1000genomes 2012-1356:2012-351-T g.chr17:80276492_80276493insAT uc002kel.1 - CD7_uc010din.2_5'Flank|CD7_uc002kem.2_5'Flank|CD7_uc010wvk.1_5'Flank NM_006137 NP_006128 B3GNTL1 146712 broad.mit.edu 37 17 80942468 80942469 + Intron DEL GT - - 2012-1356:2012-351-T g.chr17:80942468_80942469delGT uc002kgg.1 - B3GNTL1_uc002kgf.1_Intron|B3GNTL1_uc002kge.1_Intron NM_001009905 NP_001009905 GALR1 2587 broad.mit.edu 37 18 74970650 74970651 + Intron INS - G G rs142980223 by1000genomes 2012-1356:2012-351-T g.chr18:74970650_74970651insG uc002lms.3 + NM_001480 NP_001471 GALR1 2587 broad.mit.edu 37 18 74970655 74970659 + Intron DEL GTCAT - - rs55869114 2012-1356:2012-351-T g.chr18:74970655_74970659delGTCAT uc002lms.3 + NM_001480 NP_001471 MIER2 54531 broad.mit.edu 37 19 310545 310545 + Intron DEL C - - 2012-1356:2012-351-T g.chr19:310545delC uc002lok.1 - NM_017550 NP_060020 PALM 5064 broad.mit.edu 37 19 727232 727237 + Intron DEL GACCCC - - rs145921312 2012-1356:2012-351-T g.chr19:727232_727237delGACCCC uc002lpm.1 + PALM_uc010xft.1_Intron|PALM_uc002lpn.1_Intron|PALM_uc010xfu.1_5'Flank NM_002579 NP_002570 TCF3 6929 broad.mit.edu 37 19 1642192 1642197 + Intron DEL CAGACG - - rs11276687;rs10526220 2012-1356:2012-351-T g.chr19:1642192_1642197delCAGACG uc002ltr.2 - TCF3_uc002ltt.3_Intron|TCF3_uc002ltq.2_Intron NM_003200 NP_003191 PEPD 5184 broad.mit.edu 37 19 33949471 33949472 + Intron DEL TA - - rs61720709 2012-1356:2012-351-T g.chr19:33949471_33949472delTA uc002nur.3 - PEPD_uc010xrr.1_Intron|PEPD_uc010xrs.1_Intron NM_000285 NP_000276 PEPD 5184 broad.mit.edu 37 19 33949478 33949486 + Intron DEL AACGAGTGT - - rs116319783 by1000genomes 2012-1356:2012-351-T g.chr19:33949478_33949486delAACGAGTGT uc002nur.3 - PEPD_uc010xrr.1_Intron|PEPD_uc010xrs.1_Intron NM_000285 NP_000276 ZNF790 388536 broad.mit.edu 37 19 37329004 37329005 + Intron DEL GC - - rs3833258 2012-1356:2012-351-T g.chr19:37329004_37329005delGC uc002oew.2 - NM_206894 NP_996777 ZNF790 388536 broad.mit.edu 37 19 37329018 37329031 + Intron DEL ACACACACACACAT - - rs56260506;rs72210281 2012-1356:2012-351-T g.chr19:37329018_37329031delACACACACACACAT uc002oew.2 - NM_206894 NP_996777 TPRX1 284355 broad.mit.edu 37 19 48305053 48305053 + Frame_Shift_Del DEL G - - 2012-1356:2012-351-T g.chr19:48305053delG uc002php.1 - 2 1286 c.1215delC c.(1213-1215)CCCfs p.P405fs NM_198479 NP_940881 SNTG2 54221 broad.mit.edu 37 2 1285186 1285187 + Intron INS - G G 2012-1356:2012-351-T g.chr2:1285186_1285187insG uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 SNTG2 54221 broad.mit.edu 37 2 1285193 1285194 + Intron INS - TGTGTA TGTGTA rs62108102 2012-1356:2012-351-T g.chr2:1285193_1285194insTGTGTA uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 GREB1 9687 broad.mit.edu 37 2 11776864 11776869 + Intron DEL GGGCAT - - 2012-1356:2012-351-T g.chr2:11776864_11776869delGGGCAT uc002rbk.1 + GREB1_uc002rbp.1_Intron NM_014668 NP_055483 DYSF 8291 broad.mit.edu 37 2 71799357 71799362 + Intron DEL GCACAT - - rs145227800;rs111777594 2012-1356:2012-351-T g.chr2:71799357_71799362delGCACAT uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron NM_003494 NP_003485 DYSF 8291 broad.mit.edu 37 2 71845170 71845171 + Intron DEL GT - - 2012-1356:2012-351-T g.chr2:71845170_71845171delGT uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron|DYSF_uc010yqy.1_Intron|DYSF_uc010yqz.1_Intron NM_003494 NP_003485 DGUOK 1716 broad.mit.edu 37 2 74180418 74180420 + Intron DEL TCG - - rs62151974 2012-1356:2012-351-T g.chr2:74180418_74180420delTCG uc002sjx.2 + DGUOK_uc002sjy.2_Intron|DGUOK_uc002sjz.2_Intron NM_080916 NP_550438 RMND5A 64795 broad.mit.edu 37 2 87719726 87719726 + Intron DEL C - - 2012-1356:2012-351-T g.chr2:87719726delC uc002srs.3 + AGAP1 116987 broad.mit.edu 37 2 236711446 236711447 + Intron INS - TGA TGA 2012-1356:2012-351-T g.chr2:236711446_236711447insTGA uc002vvs.2 + AGAP1_uc002vvt.2_Intron NM_001037131 NP_001032208 SNED1 25992 broad.mit.edu 37 2 241950696 241950704 + Intron DEL TCCTGGGTT - - rs72080281;rs112852501 by1000genomes 2012-1356:2012-351-T g.chr2:241950696_241950704delTCCTGGGTT uc002wah.1 + NM_001080437 NP_001073906 THAP4 51078 broad.mit.edu 37 2 242559293 242559294 + Intron INS - AGTC AGTC 2012-1356:2012-351-T g.chr2:242559293_242559294insAGTC uc002wbt.2 - THAP4_uc002wbs.2_5'Flank NM_015963 NP_057047 SNPH 9751 broad.mit.edu 37 20 1258563 1258564 + Intron INS - TG TG 2012-1356:2012-351-T g.chr20:1258563_1258564insTG uc002wes.2 + SNPH_uc002wet.2_Intron NM_014723 NP_055538 BMP7 655 broad.mit.edu 37 20 55793491 55793492 + Intron INS - TGTT TGTT rs149581669;rs34742226 by1000genomes 2012-1356:2012-351-T g.chr20:55793491_55793492insTGTT uc010gip.1 - BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Intron NM_001719 NP_001710 CDH4 1002 broad.mit.edu 37 20 60140156 60140157 + Intron INS - CTGGTC CTGGTC rs76692330 by1000genomes 2012-1356:2012-351-T g.chr20:60140156_60140157insCTGGTC uc002ybn.1 + NM_001794 NP_001785 CDH4 1002 broad.mit.edu 37 20 60140278 60140279 + Intron INS - GGT GGT 2012-1356:2012-351-T g.chr20:60140278_60140279insGGT uc002ybn.1 + NM_001794 NP_001785 CHRNA4 1137 broad.mit.edu 37 20 61988344 61988345 + Intron INS - GACCACATCGCCATAG GACCACATCGCCATAG rs144766544;rs150239223 by1000genomes 2012-1356:2012-351-T g.chr20:61988344_61988345insGACCACATCGCCATAG uc002yes.2 - CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_Intron|CHRNA4_uc010gke.1_Intron|CHRNA4_uc002yev.1_Intron|CHRNA4_uc010gkf.1_Intron NM_000744 NP_000735 ADARB1 104 broad.mit.edu 37 21 46529170 46529173 + Intron DEL GTAT - - rs147103418 by1000genomes 2012-1356:2012-351-T g.chr21:46529170_46529173delGTAT uc002zgy.2 + ADARB1_uc002zgp.2_Intron|ADARB1_uc002zgr.2_Intron|ADARB1_uc002zgs.2_Intron|ADARB1_uc002zgw.2_Intron|ADARB1_uc002zgv.2_Intron|ADARB1_uc002zgt.2_Intron|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_Intron|ADARB1_uc002zgu.2_Intron NM_015833 NP_056648 ADARB1 104 broad.mit.edu 37 21 46553824 46553825 + Intron INS - GC GC 2012-1356:2012-351-T g.chr21:46553824_46553825insGC uc002zgy.2 + ADARB1_uc002zgp.2_Intron|ADARB1_uc002zgr.2_Intron|ADARB1_uc002zgs.2_Intron|ADARB1_uc002zgw.2_Intron|ADARB1_uc002zgv.2_Intron|ADARB1_uc002zgt.2_Intron|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_Intron|ADARB1_uc002zgu.2_Intron NM_015833 NP_056648 COL18A1 80781 broad.mit.edu 37 21 46904024 46904025 + Intron DEL GC - - rs66498765 2012-1356:2012-351-T g.chr21:46904024_46904025delGC uc011afs.1 + COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Intron NM_130444 NP_569711 PHF21B 112885 broad.mit.edu 37 22 45280000 45280008 + Intron DEL CATCATGAT - - rs13055901;rs60606161 2012-1356:2012-351-T g.chr22:45280000_45280008delCATCATGAT uc003bfn.2 - PHF21B_uc003bfm.2_Intron|PHF21B_uc011aqk.1_Intron|PHF21B_uc011aql.1_Intron NM_138415 NP_612424 PHF21B 112885 broad.mit.edu 37 22 45280013 45280015 + Intron DEL ATT - - rs143123029;rs13055909 2012-1356:2012-351-T g.chr22:45280013_45280015delATT uc003bfn.2 - PHF21B_uc003bfm.2_Intron|PHF21B_uc011aqk.1_Intron|PHF21B_uc011aql.1_Intron NM_138415 NP_612424 TTLL8 164714 broad.mit.edu 37 22 50467490 50467491 + Intron INS - C C rs35139272 2012-1356:2012-351-T g.chr22:50467490_50467491insC uc011ark.1 - NM_001080447 NP_001073916 MUC4 4585 broad.mit.edu 37 3 195539308 195539309 + 5'Flank INS - TCAGTG TCAGTG 2012-1356:2012-351-T g.chr3:195539308_195539309insTCAGTG uc011bto.1 - MUC4_uc003fvo.2_5'Flank|MUC4_uc003fvp.2_5'Flank|MUC4_uc010hzv.2_5'Flank NM_018406 NP_060876 GAK 2580 broad.mit.edu 37 4 850214 850215 + Intron INS - C C rs33969402 2012-1356:2012-351-T g.chr4:850214_850215insC uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibi.2_Intron|GAK_uc010ibj.2_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 GAK 2580 broad.mit.edu 37 4 850217 850218 + Intron INS - AG AG rs33927232 2012-1356:2012-351-T g.chr4:850217_850218insAG uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibi.2_Intron|GAK_uc010ibj.2_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 SH3BP2 6452 broad.mit.edu 37 4 2828024 2828025 + Intron INS - TG TG rs72349001 2012-1356:2012-351-T g.chr4:2828024_2828025insTG uc003gfi.3 + SH3BP2_uc011bvp.1_Intron|SH3BP2_uc003gfj.3_Intron|SH3BP2_uc003gfk.3_Intron|SH3BP2_uc003gfl.3_Intron|SH3BP2_uc003gfm.3_5'Flank NM_001122681 NP_001116153 SORCS2 57537 broad.mit.edu 37 4 7479087 7479096 + Intron DEL GGCTGACCGT - - rs62277642;rs78756513;rs79892419 2012-1356:2012-351-T g.chr4:7479087_7479096delGGCTGACCGT uc003gkb.3 + SORCS2_uc011bwi.1_Intron NM_020777 NP_065828 FSTL5 56884 broad.mit.edu 37 4 163085748 163085749 + 5'Flank INS - A A rs111750358;rs71858319 2012-1356:2012-351-T g.chr4:163085748_163085749insA uc003iqh.2 - FSTL5_uc003iqi.2_5'Flank|FSTL5_uc010iqv.2_5'Flank NM_020116 NP_064501 MTNR1A 4543 broad.mit.edu 37 4 187462007 187462008 + Intron INS - GAAG GAAG rs5864998;rs34271589 2012-1356:2012-351-T g.chr4:187462007_187462008insGAAG uc003izd.1 - NM_005958 NP_005949 SLC9A3 6550 broad.mit.edu 37 5 487080 487084 + Intron DEL GTGAT - - 2012-1356:2012-351-T g.chr5:487080_487084delGTGAT uc003jbe.2 - SLC9A3_uc011clx.1_Intron NM_004174 NP_004165 CEP72 55722 broad.mit.edu 37 5 648879 648879 + Intron DEL T - - 2012-1356:2012-351-T g.chr5:648879delT uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 648897 648898 + Intron DEL TG - - 2012-1356:2012-351-T g.chr5:648897_648898delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 648960 648960 + Intron DEL G - - 2012-1356:2012-351-T g.chr5:648960delG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649025 649037 + Intron DEL GTGACTGTGAGGT - - rs144439479 by1000genomes 2012-1356:2012-351-T g.chr5:649025_649037delGTGACTGTGAGGT uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650138 650139 + Intron DEL TG - - 2012-1356:2012-351-T g.chr5:650138_650139delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650330 650331 + Intron INS - G G 2012-1356:2012-351-T g.chr5:650330_650331insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650402 650403 + Intron DEL TG - - 2012-1356:2012-351-T g.chr5:650402_650403delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650580 650581 + Intron DEL TG - - 2012-1356:2012-351-T g.chr5:650580_650581delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 651387 651387 + Intron DEL G - - 2012-1356:2012-351-T g.chr5:651387delG uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1072464 1072464 + Intron DEL T - - rs66769696 2012-1356:2012-351-T g.chr5:1072464delT uc003jbu.2 - NM_006598 NP_006589 PDZD2 23037 broad.mit.edu 37 5 32002764 32002765 + Intron DEL AC - - rs71959773 2012-1356:2012-351-T g.chr5:32002764_32002765delAC uc003jhl.2 + PDZD2_uc003jhm.2_Intron|PDZD2_uc011cnx.1_Intron NM_178140 NP_835260 SYNE1 23345 broad.mit.edu 37 6 152688715 152688715 + Intron DEL A - - 2012-1356:2012-351-T g.chr6:152688715delA uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Intron NM_182961 NP_892006 RPS6KA2 6196 broad.mit.edu 37 6 166863352 166863352 + Intron DEL A - - rs67121736 2012-1356:2012-351-T g.chr6:166863352delA uc003qvb.1 - RPS6KA2_uc011ego.1_Intron|RPS6KA2_uc010kkl.1_Intron|RPS6KA2_uc003qvc.1_Intron|RPS6KA2_uc003qvd.1_Intron NM_021135 NP_066958 KIF25 3834 broad.mit.edu 37 6 168444820 168444820 + Intron DEL G - - rs66490155 2012-1356:2012-351-T g.chr6:168444820delG uc003qwk.1 + KIF25_uc003qwl.1_Intron NM_030615 NP_085118 THBS2 7058 broad.mit.edu 37 6 169643057 169643058 + Intron INS - C C 2012-1356:2012-351-T g.chr6:169643057_169643058insC uc003qwt.2 - NM_003247 NP_003238 THBS2 7058 broad.mit.edu 37 6 169643060 169643061 + Intron DEL GC - - 2012-1356:2012-351-T g.chr6:169643060_169643061delGC uc003qwt.2 - NM_003247 NP_003238 ICA1 3382 broad.mit.edu 37 7 8192427 8192429 + Intron DEL CCA - - 2012-1356:2012-351-T g.chr7:8192427_8192429delCCA uc003srm.2 - ICA1_uc010ktr.2_Intron|ICA1_uc003srl.2_Intron|ICA1_uc003srn.3_Intron|ICA1_uc003srp.3_Intron|ICA1_uc010kts.2_Intron|ICA1_uc003srq.2_Intron|ICA1_uc003srr.2_Intron|ICA1_uc003sro.3_Intron NM_022307 NP_071682 PTPRN2 5799 broad.mit.edu 37 7 157664694 157664697 + Intron DEL ACAT - - rs67241590 2012-1356:2012-351-T g.chr7:157664694_157664697delACAT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PEBP4 157310 broad.mit.edu 37 8 22623306 22623307 + Intron INS - A A rs61315444;rs35035196 2012-1356:2012-351-T g.chr8:22623306_22623307insA uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623307 22623308 + Intron INS - TC TC rs35035196;rs56184904 2012-1356:2012-351-T g.chr8:22623307_22623308insTC uc003xcn.1 - NM_144962 NP_659399 MMP16 4325 broad.mit.edu 37 8 89339977 89339982 + 5'Flank DEL GCGCGC - - 2012-1356:2012-351-T g.chr8:89339977_89339982delGCGCGC uc003yeb.3 - MMP16_uc003yec.2_5'Flank NM_005941 NP_005932 RIMS2 9699 broad.mit.edu 37 8 104831719 104831719 + 5'UTR DEL A - - 2012-1356:2012-351-T g.chr8:104831719delA uc003ylw.2 + 1 RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylq.2_5'UTR|RIMS2_uc003ylr.2_5'UTR NM_014677 NP_055492 TOP1MT 116447 broad.mit.edu 37 8 144404366 144404367 + Intron DEL CA - - 2012-1356:2012-351-T g.chr8:144404366_144404367delCA uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 TOP1MT 116447 broad.mit.edu 37 8 144404673 144404673 + Intron DEL C - - 2012-1356:2012-351-T g.chr8:144404673delC uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 TOP1MT 116447 broad.mit.edu 37 8 144404687 144404689 + Intron DEL ACA - - rs145270080 by1000genomes 2012-1356:2012-351-T g.chr8:144404687_144404689delACA uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 TOP1MT 116447 broad.mit.edu 37 8 144405455 144405456 + Intron DEL CA - - 2012-1356:2012-351-T g.chr8:144405455_144405456delCA uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 PARP10 84875 broad.mit.edu 37 8 145055515 145055517 + Intron DEL TGA - - rs113774113 2012-1356:2012-351-T g.chr8:145055515_145055517delTGA uc003zal.3 - PARP10_uc003zak.3_Intron|PARP10_uc011lku.1_Intron|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Intron NM_032789 NP_116178 ZNF16 7564 broad.mit.edu 37 8 146172393 146172394 + Intron INS - G G 2012-1356:2012-351-T g.chr8:146172393_146172394insG uc003zet.2 - ZNF16_uc003zeu.2_Intron NM_001029976 NP_001025147 FAM125B 89853 broad.mit.edu 37 9 129246803 129246805 + Intron DEL CTT - - rs35528692;rs35371157 2012-1356:2012-351-T g.chr9:129246803_129246805delCTT uc004bqh.1 + FAM125B_uc011lzy.1_Intron|FAM125B_uc010mxd.2_Intron NM_033446 NP_258257 POMT1 10585 broad.mit.edu 37 9 134391543 134391544 + Intron INS - CTTC CTTC rs146610882 by1000genomes 2012-1356:2012-351-T g.chr9:134391543_134391544insCTTC uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 TTF1 7270 broad.mit.edu 37 9 135253040 135253041 + Intron DEL GT - - rs148102891 by1000genomes 2012-1356:2012-351-T g.chr9:135253040_135253041delGT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 TTF1 7270 broad.mit.edu 37 9 135253457 135253459 + Intron DEL GTG - - 2012-1356:2012-351-T g.chr9:135253457_135253459delGTG uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 NACC2 138151 broad.mit.edu 37 9 138916002 138916007 + Intron DEL GTGTGT - - rs71507095 2012-1356:2012-351-T g.chr9:138916002_138916007delGTGTGT uc004cgw.2 - NACC2_uc010nbh.2_Intron NM_144653 NP_653254 NOTCH1 4851 broad.mit.edu 37 9 139408959 139408960 + Splice_Site INS - A A 2012-1356:2012-351-T g.chr9:139408959_139408960insA uc004chz.2 - 13 2207 c.2207_splice c.e13+1 p.G736_splice NOTCH1_uc004cia.1_5'Flank NM_017617 NP_060087 EXD3 54932 broad.mit.edu 37 9 140223586 140223586 + Intron DEL A - - 2012-1356:2012-351-T g.chr9:140223586delA uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron NM_017820 NP_060290 OPHN1 4983 broad.mit.edu 37 X 67459062 67459062 + Intron DEL G - - rs67901004 2012-1356:2012-351-T g.chrX:67459062delG uc004dww.3 - OPHN1_uc011mpg.1_Intron|OPHN1_uc004dwx.2_Intron NM_002547 NP_002538 CNST 163882 broad.mit.edu 37 1 246783720 246783721 + Intron DEL CT - - 2012-693:2012-1306-T g.chr1:246783720_246783721delCT uc001ibp.2 + CNST_uc001ibo.3_Intron NM_152609 NP_689822 SLC22A12 116085 broad.mit.edu 37 11 64363561 64363562 + Intron INS - ATGG ATGG rs146602952 2012-693:2012-1306-T g.chr11:64363561_64363562insATGG uc001oam.1 + SLC22A12_uc009ypr.1_Intron|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.2_Intron NM_144585 NP_653186 GPR133 283383 broad.mit.edu 37 12 131578501 131578502 + Intron INS - C C 2012-693:2012-1306-T g.chr12:131578501_131578502insC uc001uit.3 + GPR133_uc010tbm.1_Intron|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Intron NM_198827 NP_942122 COL4A2 1284 broad.mit.edu 37 13 111133880 111133880 + Intron DEL T - - rs74198691 2012-693:2012-1306-T g.chr13:111133880delT uc001vqx.2 + NM_001846 NP_001837 ATP11A 23250 broad.mit.edu 37 13 113469555 113469555 + Intron DEL A - - 2012-693:2012-1306-T g.chr13:113469555delA uc001vsi.3 + ATP11A_uc001vsj.3_Intron|ATP11A_uc001vsm.1_Intron NM_015205 NP_056020 RIN3 79890 broad.mit.edu 37 14 93106707 93106710 + Intron DEL CTGA - - 2012-693:2012-1306-T g.chr14:93106707_93106710delCTGA uc001yap.2 + RIN3_uc010auk.2_Intron|RIN3_uc001yaq.2_Intron NM_024832 NP_079108 NTRK3 4916 broad.mit.edu 37 15 88476459 88476459 + Intron DEL G - - 2012-693:2012-1306-T g.chr15:88476459delG uc002bme.1 - NTRK3_uc002bmh.2_Intron|NTRK3_uc002bmf.1_Intron|NTRK3_uc010upl.1_Intron|NTRK3_uc010bnh.1_Intron NM_001012338 NP_001012338 LMF1 64788 broad.mit.edu 37 16 964649 964650 + Intron INS - TCC TCC rs71992005 2012-693:2012-1306-T g.chr16:964649_964650insTCC uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 DPEP1 1800 broad.mit.edu 37 16 89701411 89701411 + Intron DEL T - - 2012-693:2012-1306-T g.chr16:89701411delT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 TBC1D16 125058 broad.mit.edu 37 17 77998154 77998155 + Intron INS - CAC CAC rs144518941 2012-693:2012-1306-T g.chr17:77998154_77998155insCAC uc002jxj.2 - NM_019020 NP_061893 SNTG2 54221 broad.mit.edu 37 2 1112724 1112739 + Intron DEL CTGGTGTGTGGGTGCT - - rs76867340;rs73154609 2012-693:2012-1306-T g.chr2:1112724_1112739delCTGGTGTGTGGGTGCT uc002qwq.2 + SNTG2_uc002qwp.2_Intron|SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 PCBP3 54039 broad.mit.edu 37 21 47234941 47234942 + Intron INS - AGT AGT 2012-693:2012-1306-T g.chr21:47234941_47234942insAGT uc010gqb.2 + NM_020528 NP_065389 DSPP 1834 broad.mit.edu 37 4 88536546 88536551 + In_Frame_Del DEL GCAGTG - - rs145589857 by1000genomes 2012-693:2012-1306-T g.chr4:88536546_88536551delGCAGTG uc003hqu.2 + 5 2852_2857 c.2732_2737delGCAGTG c.(2731-2739)AGCAGTGAC>AAC p.911_913SSD>N NM_014208 NP_055023 NKD2 85409 broad.mit.edu 37 5 1026188 1026189 + Intron INS - A A rs67590304 2012-693:2012-1306-T g.chr5:1026188_1026189insA uc003jbt.1 + NKD2_uc010itf.1_Intron NM_033120 NP_149111 MDGA1 266727 broad.mit.edu 37 6 37611902 37611902 + Intron DEL A - - rs146272501 by1000genomes 2012-693:2012-1306-T g.chr6:37611902delA uc003onu.1 - MDGA1_uc003onv.1_Intron NM_153487 NP_705691 RPS6KA2 6196 broad.mit.edu 37 6 166995598 166995598 + Intron DEL G - - 2012-693:2012-1306-T g.chr6:166995598delG uc003qvb.1 - RPS6KA2_uc003qvc.1_Intron|RPS6KA2_uc003qvd.1_Intron NM_021135 NP_066958 ADAP1 11033 broad.mit.edu 37 7 945661 945661 + Intron DEL A - - rs147688496 by1000genomes 2012-693:2012-1306-T g.chr7:945661delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 945697 945697 + Intron DEL A - - 2012-693:2012-1306-T g.chr7:945697delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PTPRN2 5799 broad.mit.edu 37 7 157568938 157568939 + Intron INS - C C rs149422515 by1000genomes 2012-693:2012-1306-T g.chr7:157568938_157568939insC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 TRAPPC9 83696 broad.mit.edu 37 8 141167372 141167372 + Intron DEL T - - 2012-693:2012-1306-T g.chr8:141167372delT uc003yvj.2 - TRAPPC9_uc003yvh.2_Intron|TRAPPC9_uc010mel.1_Intron|TRAPPC9_uc003yvi.1_Intron NM_001160372 NP_001153844 AGRN 375790 broad.mit.edu 37 1 965052 965057 + Intron DEL TGTGTG - - rs36212580;rs140315748;rs138003074 2012-695:2012-1303-T g.chr1:965052_965057delTGTGTG uc001ack.1 + NM_198576 NP_940978 AGRN 375790 broad.mit.edu 37 1 965757 965758 + Intron DEL AT - - rs149475096 2012-695:2012-1303-T g.chr1:965757_965758delAT uc001ack.1 + NM_198576 NP_940978 PRDM16 63976 broad.mit.edu 37 1 3187225 3187225 + Intron DEL A - - 2012-695:2012-1303-T g.chr1:3187225delA uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 PRDM16 63976 broad.mit.edu 37 1 3187228 3187228 + Intron DEL A - - 2012-695:2012-1303-T g.chr1:3187228delA uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 MTOR 2475 broad.mit.edu 37 1 11300490 11300490 + Frame_Shift_Del DEL A - - 2012-695:2012-1303-T g.chr1:11300490delA uc001asd.2 - 11 1777 c.1656delT c.(1654-1656)CTTfs p.L552fs NM_004958 NP_004949 PTCHD2 57540 broad.mit.edu 37 1 11582594 11582595 + Intron INS - A A 2012-695:2012-1303-T g.chr1:11582594_11582595insA uc001ash.3 + PTCHD2_uc001asi.1_Intron NM_020780 NP_065831 PTCHD2 57540 broad.mit.edu 37 1 11582598 11582598 + Intron DEL G - - 2012-695:2012-1303-T g.chr1:11582598delG uc001ash.3 + PTCHD2_uc001asi.1_Intron NM_020780 NP_065831 NBPF1 55672 broad.mit.edu 37 1 16892272 16892273 + Frame_Shift_Ins INS - T T 2012-695:2012-1303-T g.chr1:16892272_16892273insT uc009vos.1 - 28 4032_4033 c.3144_3145insA c.(3142-3147)GTAGAGfs p.V1048fs uc001ayw.2_5'Flank NM_017940 NP_060410 NBPF1 55672 broad.mit.edu 37 1 16892277 16892277 + Frame_Shift_Del DEL G - - 2012-695:2012-1303-T g.chr1:16892277delG uc009vos.1 - 28 4028 c.3140delC c.(3139-3141)GCAfs p.A1047fs uc001ayw.2_5'Flank NM_017940 NP_060410 ASH1L 55870 broad.mit.edu 37 1 155314069 155314069 + Intron DEL T - - 2012-695:2012-1303-T g.chr1:155314069delT uc009wqq.2 - RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Intron NM_018489 NP_060959 FAIM3 9214 broad.mit.edu 37 1 207097953 207097954 + 5'Flank INS - CTCT CTCT 2012-695:2012-1303-T g.chr1:207097953_207097954insCTCT uc001hey.2 - FAIM3_uc010prz.1_5'Flank|FAIM3_uc010psa.1_5'Flank|FAIM3_uc010psb.1_5'Flank NM_005449 NP_005440 CABC1 56997 broad.mit.edu 37 1 227143266 227143267 + Intron INS - CT CT 2012-695:2012-1303-T g.chr1:227143266_227143267insCT uc001hqm.1 + CABC1_uc010pvp.1_Intron|CABC1_uc001hqn.1_Intron|CABC1_uc009xeq.1_Intron|CABC1_uc010pvq.1_Intron NM_020247 NP_064632 MGMT 4255 broad.mit.edu 37 10 131326609 131326610 + Intron INS - GT GT rs150159700;rs144907665 by1000genomes 2012-695:2012-1303-T g.chr10:131326609_131326610insGT uc001lkh.2 + NM_002412 NP_002403 JAKMIP3 282973 broad.mit.edu 37 10 133972724 133972725 + Intron DEL AT - - rs66512429 2012-695:2012-1303-T g.chr10:133972724_133972725delAT uc001lkx.3 + JAKMIP3_uc009yba.1_Intron NM_001105521 NP_001098991 LRRC27 80313 broad.mit.edu 37 10 134172152 134172154 + Intron DEL AGT - - rs71982207 2012-695:2012-1303-T g.chr10:134172152_134172154delAGT uc010quw.1 + LRRC27_uc001llg.2_Intron|LRRC27_uc001lli.2_Intron|LRRC27_uc001llj.2_Intron|LRRC27_uc001llk.3_Intron NM_030626 NP_085129 ODF3 113746 broad.mit.edu 37 11 196532 196532 + 5'Flank DEL A - - rs111465659 by1000genomes 2012-695:2012-1303-T g.chr11:196532delA uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 CTSD 1509 broad.mit.edu 37 11 1775771 1775772 + Intron INS - G G 2012-695:2012-1303-T g.chr11:1775771_1775772insG uc001luc.1 - CTSD_uc009yda.1_Intron NM_001909 NP_001900 KIRREL3 84623 broad.mit.edu 37 11 126733396 126733403 + Intron DEL GTGAGTGC - - 2012-695:2012-1303-T g.chr11:126733396_126733403delGTGAGTGC uc001qea.2 - KIRREL3_uc001qeb.2_Intron|KIRREL3_uc001qec.1_Intron|KIRREL3_uc001qed.3_Intron NM_032531 NP_115920 TSPAN9 10867 broad.mit.edu 37 12 3307313 3307313 + Intron DEL C - - 2012-695:2012-1303-T g.chr12:3307313delC uc001qlp.2 + NM_006675 NP_006666 GPR133 283383 broad.mit.edu 37 12 131578555 131578556 + Intron INS - C C 2012-695:2012-1303-T g.chr12:131578555_131578556insC uc001uit.3 + GPR133_uc010tbm.1_Intron|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Intron NM_198827 NP_942122 GRTP1 79774 broad.mit.edu 37 13 113986709 113986710 + Intron DEL CA - - 2012-695:2012-1303-T g.chr13:113986709_113986710delCA uc001vtn.2 - GRTP1_uc010tkb.1_Intron|GRTP1_uc010tkc.1_Intron NM_024719 NP_078995 TFDP1 7027 broad.mit.edu 37 13 114279707 114279708 + Intron INS - TC TC 2012-695:2012-1303-T g.chr13:114279707_114279708insTC uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 TTC7B 145567 broad.mit.edu 37 14 91039947 91039948 + Intron INS - C C 2012-695:2012-1303-T g.chr14:91039947_91039948insC uc001xyp.2 - TTC7B_uc001xyo.2_Intron|TTC7B_uc010ats.2_Intron NM_001010854 NP_001010854 GPR56 9289 broad.mit.edu 37 16 57678819 57678820 + Intron INS - CT CT rs145649635 by1000genomes 2012-695:2012-1303-T g.chr16:57678819_57678820insCT uc002emb.2 + GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_Intron|GPR56_uc002emc.2_Intron|GPR56_uc002emf.2_Intron|GPR56_uc010vhs.1_Intron|GPR56_uc002emd.2_Intron|GPR56_uc002eme.2_Intron|GPR56_uc010vht.1_Intron|GPR56_uc002emg.3_Intron|GPR56_uc010vhu.1_Intron NM_005682 NP_005673 BANP 54971 broad.mit.edu 37 16 88086937 88086939 + Intron DEL CAT - - 2012-695:2012-1303-T g.chr16:88086937_88086939delCAT uc002fkr.2 + BANP_uc002fkp.2_Intron|BANP_uc002fkq.2_Intron|BANP_uc010vow.1_Intron|BANP_uc002fks.3_Intron NM_079837 NP_524576 CPNE7 27132 broad.mit.edu 37 16 89654562 89654563 + Intron INS - C C 2012-695:2012-1303-T g.chr16:89654562_89654563insC uc002fnp.2 + CPNE7_uc002fnq.2_Intron NM_014427 NP_055242 DPEP1 1800 broad.mit.edu 37 16 89701139 89701139 + Intron DEL T - - 2012-695:2012-1303-T g.chr16:89701139delT uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 DPEP1 1800 broad.mit.edu 37 16 89701145 89701145 + Intron DEL C - - 2012-695:2012-1303-T g.chr16:89701145delC uc010cin.2 + DPEP1_uc002fnr.3_Intron|DPEP1_uc002fns.3_Intron NM_001128141 NP_001121613 TIMM22 29928 broad.mit.edu 37 17 897545 897546 + 5'Flank INS - C C rs147504264;rs71933939 2012-695:2012-1303-T g.chr17:897545_897546insC uc002fsc.2 + NM_013337 NP_037469 ITGAE 3682 broad.mit.edu 37 17 3699403 3699404 + Intron INS - TGTG TGTG rs36045415;rs146559224 2012-695:2012-1303-T g.chr17:3699403_3699404insTGTG uc002fwo.3 - NM_002208 NP_002199 9-Sep 10801 broad.mit.edu 37 17 75480344 75480345 + Intron INS - GG GG 2012-695:2012-1303-T g.chr17:75480344_75480345insGG uc002jts.3 + SEPT9_uc010wtk.1_Intron|SEPT9_uc002jtt.3_Intron|SEPT9_uc002jtu.3_Intron|SEPT9_uc002jtv.2_Intron|SEPT9_uc002jtw.2_Intron|SEPT9_uc010wtl.1_Intron|SEPT9_uc002jty.3_Intron|SEPT9_uc010wtm.1_Intron|SEPT9_uc010wtn.1_Intron|SEPT9_uc010dhd.2_Intron NM_001113491 NP_001106963 RPTOR 57521 broad.mit.edu 37 17 78608400 78608410 + Intron DEL GTACTGTGTGT - - rs72304965 2012-695:2012-1303-T g.chr17:78608400_78608410delGTACTGTGTGT uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 SLC38A10 124565 broad.mit.edu 37 17 79223326 79223326 + Intron DEL G - - 2012-695:2012-1303-T g.chr17:79223326delG uc002jzz.1 - SLC38A10_uc002jzy.1_Intron NM_001037984 NP_001033073 TBCD 6904 broad.mit.edu 37 17 80807802 80807803 + Intron INS - GCTC GCTC 2012-695:2012-1303-T g.chr17:80807802_80807803insGCTC uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 TBCD 6904 broad.mit.edu 37 17 80807804 80807805 + Intron INS - C C 2012-695:2012-1303-T g.chr17:80807804_80807805insC uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 PQLC1 80148 broad.mit.edu 37 18 77680275 77680275 + Intron DEL A - - 2012-695:2012-1303-T g.chr18:77680275delA uc002lnl.2 - PQLC1_uc010dre.2_Intron|PQLC1_uc002lnk.2_Intron|PQLC1_uc010xfm.1_Intron NM_025078 NP_079354 PALM 5064 broad.mit.edu 37 19 727262 727266 + Intron DEL AACCT - - rs117394995 2012-695:2012-1303-T g.chr19:727262_727266delAACCT uc002lpm.1 + PALM_uc010xft.1_Intron|PALM_uc002lpn.1_Intron|PALM_uc010xfu.1_5'Flank NM_002579 NP_002570 SNTG2 54221 broad.mit.edu 37 2 1285013 1285014 + Intron INS - TGTA TGTA 2012-695:2012-1303-T g.chr2:1285013_1285014insTGTA uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 PXDN 7837 broad.mit.edu 37 2 1723908 1723911 + Intron DEL AAGA - - rs140892741;rs150275355 by1000genomes;by1000genomes 2012-695:2012-1303-T g.chr2:1723908_1723911delAAGA uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 RMND5A 64795 broad.mit.edu 37 2 87651220 87651221 + Intron INS - A A 2012-695:2012-1303-T g.chr2:87651220_87651221insA uc002srs.3 + SNPH 9751 broad.mit.edu 37 20 1258392 1258393 + Intron DEL TG - - 2012-695:2012-1303-T g.chr20:1258392_1258393delTG uc002wes.2 + SNPH_uc002wet.2_Intron NM_014723 NP_055538 C20orf26 26074 broad.mit.edu 37 20 20338676 20338677 + Intron INS - GT GT rs113150957 by1000genomes 2012-695:2012-1303-T g.chr20:20338676_20338677insGT uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 TTLL8 164714 broad.mit.edu 37 22 50467490 50467491 + Intron INS - C C rs35139272 2012-695:2012-1303-T g.chr22:50467490_50467491insC uc011ark.1 - NM_001080447 NP_001073916 GAK 2580 broad.mit.edu 37 4 850185 850185 + Intron DEL A - - 2012-695:2012-1303-T g.chr4:850185delA uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibi.2_Intron|GAK_uc010ibj.2_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 GAK 2580 broad.mit.edu 37 4 850340 850342 + Intron DEL CAC - - 2012-695:2012-1303-T g.chr4:850340_850342delCAC uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibi.2_Intron|GAK_uc010ibj.2_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 GAK 2580 broad.mit.edu 37 4 850369 850371 + Intron DEL CAC - - rs33966084 2012-695:2012-1303-T g.chr4:850369_850371delCAC uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibi.2_Intron|GAK_uc010ibj.2_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 ABLIM2 84448 broad.mit.edu 37 4 8133465 8133466 + Intron INS - T T rs34029673 2012-695:2012-1303-T g.chr4:8133465_8133466insT uc003gko.2 - ABLIM2_uc003gkj.3_Intron|ABLIM2_uc003gkm.3_Intron|ABLIM2_uc003gkp.2_Intron|ABLIM2_uc003gkq.2_Intron|ABLIM2_uc003gkr.2_Intron|ABLIM2_uc003gks.3_Intron NM_001130084 NP_001123556 MAML3 55534 broad.mit.edu 37 4 140811084 140811084 + Frame_Shift_Del DEL C - - rs12506879 by1000genomes 2012-695:2012-1303-T g.chr4:140811084delC uc003ihz.1 - 2 2258 c.1506delG c.(1504-1506)CAGfs p.Q502fs MAML3_uc011chd.1_Intron NM_018717 NP_061187 MAML3 55534 broad.mit.edu 37 4 140811086 140811096 + Frame_Shift_Del DEL GCTGCTGCTGC - - rs67877726;rs72161425;rs79090010 by1000genomes 2012-695:2012-1303-T g.chr4:140811086_140811096delGCTGCTGCTGC uc003ihz.1 - 2 2246_2256 c.1494_1504delGCAGCAGCAGC c.(1492-1506)CAGCAGCAGCAGCAGfs p.Q498fs MAML3_uc011chd.1_Intron NM_018717 NP_061187 PDCD6 10016 broad.mit.edu 37 5 298754 298755 + Intron INS - C C 2012-695:2012-1303-T g.chr5:298754_298755insC uc003jat.1 + PDCD6_uc003jau.1_Intron NM_013232 NP_037364 CEP72 55722 broad.mit.edu 37 5 648709 648710 + Intron DEL TG - - 2012-695:2012-1303-T g.chr5:648709_648710delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 648816 648817 + Intron DEL AT - - rs148682618 by1000genomes 2012-695:2012-1303-T g.chr5:648816_648817delAT uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649167 649168 + Intron INS - G G 2012-695:2012-1303-T g.chr5:649167_649168insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649234 649235 + Intron INS - G G rs77571790 2012-695:2012-1303-T g.chr5:649234_649235insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649701 649710 + Intron DEL ACTGAGGCGT - - 2012-695:2012-1303-T g.chr5:649701_649710delACTGAGGCGT uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650629 650629 + Intron DEL T - - 2012-695:2012-1303-T g.chr5:650629delT uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1070663 1070664 + Intron INS - G G rs11428911 2012-695:2012-1303-T g.chr5:1070663_1070664insG uc003jbu.2 - NM_006598 NP_006589 SLC12A7 10723 broad.mit.edu 37 5 1071333 1071334 + Intron INS - G G 2012-695:2012-1303-T g.chr5:1071333_1071334insG uc003jbu.2 - NM_006598 NP_006589 TERT 7015 broad.mit.edu 37 5 1272986 1272987 + Intron INS - GGACCA GGACCA rs4484476 2012-695:2012-1303-T g.chr5:1272986_1272987insGGACCA uc003jcb.1 - TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Intron|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 CDHR2 54825 broad.mit.edu 37 5 176019100 176019101 + Intron INS - TGA TGA 2012-695:2012-1303-T g.chr5:176019100_176019101insTGA uc003mem.1 + CDHR2_uc003men.1_Intron NM_017675 NP_060145 DEK 7913 broad.mit.edu 37 6 18264841 18264841 + 5'Flank DEL G - - 2012-695:2012-1303-T g.chr6:18264841delG uc003ncr.1 - DEK_uc011djf.1_5'Flank|DEK_uc011djg.1_5'Flank NM_003472 NP_003463 PBX2 5089 broad.mit.edu 37 6 32156537 32156538 + Frame_Shift_Ins INS - G G 2012-695:2012-1303-T g.chr6:32156537_32156538insG uc003oav.1 - 2 528_529 c.257_258insC c.(256-258)GCTfs p.A86fs PBX2_uc003oaw.2_Frame_Shift_Ins_p.A86fs NM_002586 NP_002577 SYTL3 94120 broad.mit.edu 37 6 159122182 159122183 + Intron INS - T T rs73797085 by1000genomes 2012-695:2012-1303-T g.chr6:159122182_159122183insT uc003qrp.2 + SYTL3_uc011efp.1_Intron|SYTL3_uc003qro.2_Intron|SYTL3_uc003qrq.2_Intron|SYTL3_uc003qrr.2_Intron|SYTL3_uc003qrs.2_Intron|SYTL3_uc011efq.1_Intron NM_001009991 NP_001009991 SYTL3 94120 broad.mit.edu 37 6 159122207 159122208 + Intron INS - T T 2012-695:2012-1303-T g.chr6:159122207_159122208insT uc003qrp.2 + SYTL3_uc011efp.1_Intron|SYTL3_uc003qro.2_Intron|SYTL3_uc003qrq.2_Intron|SYTL3_uc003qrr.2_Intron|SYTL3_uc003qrs.2_Intron|SYTL3_uc011efq.1_Intron NM_001009991 NP_001009991 PSMB1 5689 broad.mit.edu 37 6 170783995 170783995 + Intron DEL C - - 2012-695:2012-1303-T g.chr6:170783995delC uc003qxq.2 - NM_002793 HEATR2 54919 broad.mit.edu 37 7 782240 782241 + Intron INS - AT AT 2012-695:2012-1303-T g.chr7:782240_782241insAT uc010krz.1 + HEATR2_uc003siz.2_Intron NM_017802 NP_060272 HEATR2 54919 broad.mit.edu 37 7 782508 782509 + Intron INS - AT AT rs66519480 2012-695:2012-1303-T g.chr7:782508_782509insAT uc010krz.1 + HEATR2_uc003siz.2_Intron NM_017802 NP_060272 MAD1L1 8379 broad.mit.edu 37 7 2141829 2141831 + Intron DEL CAC - - rs72154011 2012-695:2012-1303-T g.chr7:2141829_2141831delCAC uc003slh.1 - MAD1L1_uc003sle.1_Intron|MAD1L1_uc003slf.1_Intron|MAD1L1_uc003slg.1_Intron|MAD1L1_uc010ksh.1_Intron|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Intron|MAD1L1_uc010ksj.2_Intron NM_001013836 NP_001013858 PTPRN2 5799 broad.mit.edu 37 7 158224158 158224158 + Intron DEL G - - 2012-695:2012-1303-T g.chr7:158224158delG uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ARHGEF10 9639 broad.mit.edu 37 8 1780747 1780752 + Intron DEL CAGAGA - - 2012-695:2012-1303-T g.chr8:1780747_1780752delCAGAGA uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 TOP1MT 116447 broad.mit.edu 37 8 144404673 144404673 + Intron DEL C - - 2012-695:2012-1303-T g.chr8:144404673delC uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 POMT1 10585 broad.mit.edu 37 9 134391317 134391317 + Intron DEL G - - rs75256542 2012-695:2012-1303-T g.chr9:134391317delG uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 POMT1 10585 broad.mit.edu 37 9 134391321 134391321 + Intron DEL G - - 2012-695:2012-1303-T g.chr9:134391321delG uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 COL5A1 1289 broad.mit.edu 37 9 137577447 137577447 + Intron DEL A - - 2012-695:2012-1303-T g.chr9:137577447delA uc004cfe.2 + NM_000093 NP_000084 SCNN1D 6339 broad.mit.edu 37 1 1224869 1224870 + Intron INS - CC CC 2012-696:2012-1305-T g.chr1:1224869_1224870insCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 MORN1 79906 broad.mit.edu 37 1 2277483 2277484 + Intron INS - G G 2012-696:2012-1305-T g.chr1:2277483_2277484insG uc001ajb.1 - MORN1_uc009vld.2_Intron NM_024848 NP_079124 SLC5A9 200010 broad.mit.edu 37 1 48692868 48692869 + Intron INS - TG TG rs145159392;rs142832035 by1000genomes 2012-696:2012-1305-T g.chr1:48692868_48692869insTG uc001cro.2 + SLC5A9_uc010oms.1_Intron|SLC5A9_uc001crn.2_Intron|SLC5A9_uc010omt.1_Intron|SLC5A9_uc001crp.2_Intron|SLC5A9_uc010omu.1_Intron NM_001011547 NP_001011547 CUBN 8029 broad.mit.edu 37 10 16911924 16911924 + Intron DEL A - - rs80179000 2012-696:2012-1305-T g.chr10:16911924delA uc001ioo.2 - CUBN_uc009xjq.1_Intron|CUBN_uc009xjr.1_Intron NM_001081 NP_001072 MGMT 4255 broad.mit.edu 37 10 131348713 131348713 + Intron DEL T - - rs58863411 2012-696:2012-1305-T g.chr10:131348713delT uc001lkh.2 + NM_002412 NP_002403 GPR123 84435 broad.mit.edu 37 10 134891628 134891629 + Intron INS - AT AT 2012-696:2012-1305-T g.chr10:134891628_134891629insAT uc001llw.2 + MACROD1 28992 broad.mit.edu 37 11 63777763 63777764 + Intron INS - GG GG 2012-696:2012-1305-T g.chr11:63777763_63777764insGG uc001nyh.2 - NM_014067 NP_054786 TPCN2 219931 broad.mit.edu 37 11 68838579 68838580 + Intron INS - TG TG rs66520477 2012-696:2012-1305-T g.chr11:68838579_68838580insTG uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_5'Flank NM_139075 NP_620714 TPCN2 219931 broad.mit.edu 37 11 68838582 68838582 + Intron DEL A - - 2012-696:2012-1305-T g.chr11:68838582delA uc001oos.2 + TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_5'Flank NM_139075 NP_620714 PTPRR 5801 broad.mit.edu 37 12 71124812 71124813 + Intron INS - GA GA 2012-696:2012-1305-T g.chr12:71124812_71124813insGA uc001swi.1 - PTPRR_uc001swh.1_Intron|PTPRR_uc009zrs.2_Intron|PTPRR_uc010stq.1_Intron|PTPRR_uc010str.1_Intron NM_002849 NP_002840 ZDHHC20 253832 broad.mit.edu 37 13 21951790 21951791 + Intron DEL CT - - 2012-696:2012-1305-T g.chr13:21951790_21951791delCT uc001uob.2 - ZDHHC20_uc001uod.2_Intron|ZDHHC20_uc001uoc.2_Intron|ZDHHC20_uc001uoe.2_Intron|ZDHHC20_uc010tcs.1_Intron NM_153251 NP_694983 COL4A2 1284 broad.mit.edu 37 13 111133730 111133730 + Intron DEL T - - 2012-696:2012-1305-T g.chr13:111133730delT uc001vqx.2 + NM_001846 NP_001837 GRK1 6011 broad.mit.edu 37 13 114431029 114431031 + Intron DEL AGT - - 2012-696:2012-1305-T g.chr13:114431029_114431031delAGT uc010tkf.1 + NM_002929 NP_002920 INF2 64423 broad.mit.edu 37 14 105186987 105186987 + Intron DEL C - - 2012-696:2012-1305-T g.chr14:105186987delC uc010tyi.1 + NM_022489 NP_071934 LRRK1 79705 broad.mit.edu 37 15 101481506 101481507 + Intron DEL TA - - rs146711140 2012-696:2012-1305-T g.chr15:101481506_101481507delTA uc002bwr.2 + LRRK1_uc010usb.1_Intron|LRRK1_uc010usc.1_Intron|LRRK1_uc002bwq.1_Intron NM_024652 NP_078928 DECR2 26063 broad.mit.edu 37 16 458213 458214 + Intron DEL CT - - 2012-696:2012-1305-T g.chr16:458213_458214delCT uc002chb.2 + DECR2_uc002chc.2_Intron|DECR2_uc010bqv.2_Intron|DECR2_uc002chd.2_Intron|DECR2_uc002che.1_Intron NM_020664 NP_065715 JPH3 57338 broad.mit.edu 37 16 87637893 87637894 + Intron INS - CTGCTG CTGCTG 2012-696:2012-1305-T g.chr16:87637893_87637894insCTGCTG uc002fkd.2 + JPH3_uc010vou.1_Intron NM_020655 NP_065706 MYH3 4621 broad.mit.edu 37 17 10538885 10538897 + Intron DEL AGAAGTTAAAAAG - - 2012-696:2012-1305-T g.chr17:10538885_10538897delAGAAGTTAAAAAG uc002gmq.1 - NM_002470 NP_002461 RAB37 326624 broad.mit.edu 37 17 72729650 72729650 + Intron DEL G - - 2012-696:2012-1305-T g.chr17:72729650delG uc010dfu.2 + RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron NM_175738 NP_783865 RPTOR 57521 broad.mit.edu 37 17 78608400 78608410 + Intron DEL GTACTGTGTGT - - rs72304965 2012-696:2012-1305-T g.chr17:78608400_78608410delGTACTGTGTGT uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 FOXK2 3607 broad.mit.edu 37 17 80533962 80533963 + Intron DEL GT - - rs72045210 2012-696:2012-1305-T g.chr17:80533962_80533963delGT uc002kfn.2 + FOXK2_uc002kfm.1_Intron|FOXK2_uc010diu.2_Intron NM_004514 NP_004505 TBCD 6904 broad.mit.edu 37 17 80807777 80807778 + Intron INS - GCTGC GCTGC rs146657952 by1000genomes 2012-696:2012-1305-T g.chr17:80807777_80807778insGCTGC uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 DSC1 1823 broad.mit.edu 37 18 28730230 28730231 + Intron INS - CAC CAC 2012-696:2012-1305-T g.chr18:28730230_28730231insCAC uc002kwn.2 - DSC1_uc002kwm.2_Intron NM_024421 NP_077739 GALR1 2587 broad.mit.edu 37 18 74971013 74971021 + Intron DEL ATGGTGGTC - - 2012-696:2012-1305-T g.chr18:74971013_74971021delATGGTGGTC uc002lms.3 + NM_001480 NP_001471 PQLC1 80148 broad.mit.edu 37 18 77679665 77679665 + Intron DEL A - - 2012-696:2012-1305-T g.chr18:77679665delA uc002lnl.2 - PQLC1_uc010dre.2_Intron|PQLC1_uc002lnk.2_Intron|PQLC1_uc010xfm.1_Intron NM_025078 NP_079354 PQLC1 80148 broad.mit.edu 37 18 77680200 77680200 + Intron DEL A - - rs10711980 2012-696:2012-1305-T g.chr18:77680200delA uc002lnl.2 - PQLC1_uc010dre.2_Intron|PQLC1_uc002lnk.2_Intron|PQLC1_uc010xfm.1_Intron NM_025078 NP_079354 TSSC1 7260 broad.mit.edu 37 2 3244712 3244713 + Intron INS - AAAG AAAG rs111859534;rs34051567 2012-696:2012-1305-T g.chr2:3244712_3244713insAAAG uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 SPAG16 79582 broad.mit.edu 37 2 214272553 214272554 + Intron DEL AG - - 2012-696:2012-1305-T g.chr2:214272553_214272554delAG uc002veq.2 + SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Intron|SPAG16_uc010zjk.1_Intron NM_024532 NP_078808 C20orf26 26074 broad.mit.edu 37 20 20337368 20337369 + Intron DEL TG - - 2012-696:2012-1305-T g.chr20:20337368_20337369delTG uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 OSBPL2 9885 broad.mit.edu 37 20 60845756 60845764 + Intron DEL CCTCTCTGG - - 2012-696:2012-1305-T g.chr20:60845756_60845764delCCTCTCTGG uc002yck.1 + OSBPL2_uc002ycl.1_Intron|OSBPL2_uc011aah.1_Intron NM_144498 NP_653081 PHF21B 112885 broad.mit.edu 37 22 45280643 45280645 + Intron DEL ACC - - rs111426216 2012-696:2012-1305-T g.chr22:45280643_45280645delACC uc003bfn.2 - PHF21B_uc003bfm.2_Intron|PHF21B_uc011aqk.1_Intron|PHF21B_uc011aql.1_Intron NM_138415 NP_612424 TUBGCP6 85378 broad.mit.edu 37 22 50673779 50673781 + Intron DEL CAA - - 2012-696:2012-1305-T g.chr22:50673779_50673781delCAA uc003bkb.1 - TUBGCP6_uc010har.1_Intron|TUBGCP6_uc010has.1_Intron NM_020461 NP_065194 GAK 2580 broad.mit.edu 37 4 850185 850185 + Intron DEL A - - 2012-696:2012-1305-T g.chr4:850185delA uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibi.2_Intron|GAK_uc010ibj.2_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 ABLIM2 84448 broad.mit.edu 37 4 8133487 8133487 + Intron DEL T - - 2012-696:2012-1305-T g.chr4:8133487delT uc003gko.2 - ABLIM2_uc003gkj.3_Intron|ABLIM2_uc003gkm.3_Intron|ABLIM2_uc003gkp.2_Intron|ABLIM2_uc003gkq.2_Intron|ABLIM2_uc003gkr.2_Intron|ABLIM2_uc003gks.3_Intron NM_001130084 NP_001123556 DSPP 1834 broad.mit.edu 37 4 88537073 88537081 + In_Frame_Del DEL AGCAGTGAC - - 2012-696:2012-1305-T g.chr4:88537073_88537081delAGCAGTGAC uc003hqu.2 + 5 3379_3387 c.3259_3267delAGCAGTGAC c.(3259-3267)AGCAGTGACdel p.SSD1087del NM_014208 NP_055023 DSPP 1834 broad.mit.edu 37 4 88537105 88537107 + In_Frame_Del DEL CGA - - rs146069704 by1000genomes 2012-696:2012-1305-T g.chr4:88537105_88537107delCGA uc003hqu.2 + 5 3411_3413 c.3291_3293delCGA c.(3289-3294)AGCGAT>AGT p.D1098del NM_014208 NP_055023 DSPP 1834 broad.mit.edu 37 4 88537109 88537114 + In_Frame_Del DEL AGCAGC - - 2012-696:2012-1305-T g.chr4:88537109_88537114delAGCAGC uc003hqu.2 + 5 3415_3420 c.3295_3300delAGCAGC c.(3295-3300)AGCAGCdel p.SS1099del NM_014208 NP_055023 SLC6A3 6531 broad.mit.edu 37 5 1422600 1422601 + Intron DEL CA - - 2012-696:2012-1305-T g.chr5:1422600_1422601delCA uc003jck.2 - NM_001044 NP_001035 TMEM181 57583 broad.mit.edu 37 6 159047965 159047968 + Intron DEL TTCT - - rs71030182;rs140164490;rs67090557 by1000genomes 2012-696:2012-1305-T g.chr6:159047965_159047968delTTCT uc003qrm.3 + TMEM181_uc010kjr.1_Intron NM_020823 NP_065874 COL1A2 1278 broad.mit.edu 37 7 94047887 94047888 + Intron INS - T T 2012-696:2012-1305-T g.chr7:94047887_94047888insT uc003ung.1 + COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron NM_000089 NP_000080 TBXAS1 6916 broad.mit.edu 37 7 139565372 139565373 + Intron INS - GA GA 2012-696:2012-1305-T g.chr7:139565372_139565373insGA uc011kqv.1 + TBXAS1_uc003vvh.2_Intron|TBXAS1_uc010lne.2_Intron|TBXAS1_uc011kqu.1_Intron|TBXAS1_uc003vvi.2_Intron|TBXAS1_uc003vvj.2_Intron|TBXAS1_uc011kqw.1_Intron|TBXAS1_uc011kqx.1_Intron NM_001130966 NP_001124438 ARHGEF10 9639 broad.mit.edu 37 8 1781261 1781262 + Intron INS - AG AG rs150664566 2012-696:2012-1305-T g.chr8:1781261_1781262insAG uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron NM_014629 NP_055444 ARHGEF10 9639 broad.mit.edu 37 8 1868267 1868267 + Intron DEL G - - 2012-696:2012-1305-T g.chr8:1868267delG uc003wpr.2 + ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron|ARHGEF10_uc003wpv.2_Intron|ARHGEF10_uc010lre.2_Intron NM_014629 NP_055444 PEBP4 157310 broad.mit.edu 37 8 22623306 22623307 + Intron INS - A A rs61315444;rs35035196 2012-696:2012-1305-T g.chr8:22623306_22623307insA uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623307 22623308 + Intron INS - TC TC rs35035196;rs56184904 2012-696:2012-1305-T g.chr8:22623307_22623308insTC uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623337 22623338 + Intron INS - A A rs71834123 2012-696:2012-1305-T g.chr8:22623337_22623338insA uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623338 22623339 + Intron INS - TC TC rs71834123 2012-696:2012-1305-T g.chr8:22623338_22623339insTC uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623368 22623369 + Intron INS - A A rs75456674;rs66898805 2012-696:2012-1305-T g.chr8:22623368_22623369insA uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623369 22623370 + Intron INS - TC TC rs66898805;rs62494989 2012-696:2012-1305-T g.chr8:22623369_22623370insTC uc003xcn.1 - NM_144962 NP_659399 POMT1 10585 broad.mit.edu 37 9 134391546 134391546 + Intron DEL C - - rs68077018 2012-696:2012-1305-T g.chr9:134391546delC uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 POMT1 10585 broad.mit.edu 37 9 134391549 134391551 + Intron DEL ACA - - 2012-696:2012-1305-T g.chr9:134391549_134391551delACA uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 SCNN1D 6339 broad.mit.edu 37 1 1223891 1223892 + Intron INS - CC CC 2012-699:2012-1304-T g.chr1:1223891_1223892insCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 SCNN1D 6339 broad.mit.edu 37 1 1224014 1224015 + Intron DEL TC - - 2012-699:2012-1304-T g.chr1:1224014_1224015delTC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 PTCHD2 57540 broad.mit.edu 37 1 11582621 11582631 + Intron DEL CCCAGCCAGGA - - 2012-699:2012-1304-T g.chr1:11582621_11582631delCCCAGCCAGGA uc001ash.3 + PTCHD2_uc001asi.1_Intron NM_020780 NP_065831 ADARB2 105 broad.mit.edu 37 10 1493847 1493866 + Intron DEL AGGGGACACACCTGTATAAC - - rs149920277;rs67493661;rs78896586;rs61834361 2012-699:2012-1304-T g.chr10:1493847_1493866delAGGGGACACACCTGTATAAC uc009xhq.2 - NM_018702 NP_061172 DOCK1 1793 broad.mit.edu 37 10 129059573 129059576 + Intron DEL GTGC - - rs149303350;rs145924103 2012-699:2012-1304-T g.chr10:129059573_129059576delGTGC uc001ljt.2 + DOCK1_uc010qun.1_Intron NM_001380 NP_001371 GPR123 84435 broad.mit.edu 37 10 134893024 134893025 + Intron INS - GTGT GTGT rs72450046 2012-699:2012-1304-T g.chr10:134893024_134893025insGTGT uc001llw.2 + BRSK2 9024 broad.mit.edu 37 11 1430007 1430007 + Intron DEL G - - rs59441591 2012-699:2012-1304-T g.chr11:1430007delG uc001lti.2 + BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001ltj.2_Intron|BRSK2_uc001ltk.2_Intron|BRSK2_uc001ltl.2_Intron|BRSK2_uc001ltm.2_5'Flank NM_003957 NP_003948 BRSK2 9024 broad.mit.edu 37 11 1430009 1430013 + Intron DEL TTGGC - - rs149317444;rs112616926;rs56958929;rs144527251 by1000genomes 2012-699:2012-1304-T g.chr11:1430009_1430013delTTGGC uc001lti.2 + BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001ltj.2_Intron|BRSK2_uc001ltk.2_Intron|BRSK2_uc001ltl.2_Intron|BRSK2_uc001ltm.2_5'Flank NM_003957 NP_003948 MYO7A 4647 broad.mit.edu 37 11 76904116 76904116 + Intron DEL T - - 2012-699:2012-1304-T g.chr11:76904116delT uc001oyb.2 + MYO7A_uc010rsm.1_Intron|MYO7A_uc001oyc.2_Intron|MYO7A_uc009yus.1_Intron|MYO7A_uc009yut.1_Intron NM_000260 NP_000251 PHLDB1 23187 broad.mit.edu 37 11 118480206 118480223 + Intron DEL GCAGCCCAGCTCACACAT - - rs67307131 by1000genomes 2012-699:2012-1304-T g.chr11:118480206_118480223delGCAGCCCAGCTCACACAT uc001ptr.1 + PHLDB1_uc010ryh.1_Intron|PHLDB1_uc001pts.2_Intron|PHLDB1_uc001ptt.2_Intron|PHLDB1_uc001ptu.1_Intron NM_015157 NP_055972 CACNA2D4 93589 broad.mit.edu 37 12 2016938 2016950 + Intron DEL AGCCTGGTGAGTA - - rs143826904;rs113797488;rs56987319;rs61907991 by1000genomes 2012-699:2012-1304-T g.chr12:2016938_2016950delAGCCTGGTGAGTA uc001qjp.2 - CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron NM_172364 NP_758952 TSPAN9 10867 broad.mit.edu 37 12 3307265 3307265 + Intron DEL C - - 2012-699:2012-1304-T g.chr12:3307265delC uc001qlp.2 + NM_006675 NP_006666 KSR2 283455 broad.mit.edu 37 12 118232178 118232187 + Intron DEL ACTCACACCA - - rs139794875;rs145084103;rs141668118 by1000genomes 2012-699:2012-1304-T g.chr12:118232178_118232187delACTCACACCA uc001two.2 - NM_173598 NP_775869 KSR2 283455 broad.mit.edu 37 12 118232192 118232199 + Intron DEL GCACACTC - - rs138374624;rs147430890 by1000genomes 2012-699:2012-1304-T g.chr12:118232192_118232199delGCACACTC uc001two.2 - NM_173598 NP_775869 GPR133 283383 broad.mit.edu 37 12 131530780 131530780 + Intron DEL C - - rs72149353 2012-699:2012-1304-T g.chr12:131530780delC uc001uit.3 + GPR133_uc010tbm.1_Intron NM_198827 NP_942122 GPR133 283383 broad.mit.edu 37 12 131578555 131578556 + Intron INS - C C 2012-699:2012-1304-T g.chr12:131578555_131578556insC uc001uit.3 + GPR133_uc010tbm.1_Intron|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Intron NM_198827 NP_942122 COL4A2 1284 broad.mit.edu 37 13 111133970 111133970 + Intron DEL T - - rs67492412 2012-699:2012-1304-T g.chr13:111133970delT uc001vqx.2 + NM_001846 NP_001837 F7 2155 broad.mit.edu 37 13 113766045 113766046 + Intron INS - CACT CACT rs10662508;rs72088242 2012-699:2012-1304-T g.chr13:113766045_113766046insCACT uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 TFDP1 7027 broad.mit.edu 37 13 114279379 114279380 + Intron DEL TC - - 2012-699:2012-1304-T g.chr13:114279379_114279380delTC uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 TFDP1 7027 broad.mit.edu 37 13 114279421 114279422 + Intron DEL TC - - 2012-699:2012-1304-T g.chr13:114279421_114279422delTC uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 RASA3 22821 broad.mit.edu 37 13 114873756 114873756 + Intron DEL T - - 2012-699:2012-1304-T g.chr13:114873756delT uc001vui.2 - RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron NM_007368 NP_031394 RASA3 22821 broad.mit.edu 37 13 114873759 114873760 + Intron INS - TG TG 2012-699:2012-1304-T g.chr13:114873759_114873760insTG uc001vui.2 - RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron NM_007368 NP_031394 LMF1 64788 broad.mit.edu 37 16 909167 909169 + Intron DEL GAC - - 2012-699:2012-1304-T g.chr16:909167_909169delGAC uc002ckj.2 - LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron NM_022773 NP_073610 BAIAP3 8938 broad.mit.edu 37 16 1390190 1390191 + Intron DEL AC - - 2012-699:2012-1304-T g.chr16:1390190_1390191delAC uc002clk.1 + BAIAP3_uc002clj.2_Intron|BAIAP3_uc010uuz.1_Intron|BAIAP3_uc010uva.1_Intron|BAIAP3_uc010uvb.1_Intron|BAIAP3_uc010uvc.1_Intron NM_003933 NP_003924 BANP 54971 broad.mit.edu 37 16 88048693 88048695 + Intron DEL TGT - - rs116374721;rs150743238 by1000genomes 2012-699:2012-1304-T g.chr16:88048693_88048695delTGT uc002fkr.2 + BANP_uc002fkp.2_Intron|BANP_uc002fkq.2_Intron|BANP_uc010vow.1_Intron|BANP_uc002fks.3_Intron|BANP_uc002fko.1_Intron|BANP_uc010vov.1_Intron NM_079837 NP_524576 LRRC37B 114659 broad.mit.edu 37 17 30377000 30377001 + Intron INS - T T 2012-699:2012-1304-T g.chr17:30377000_30377001insT uc002hgu.2 + LRRC37B_uc010wbx.1_Intron|LRRC37B_uc010csu.2_Intron NM_052888 NP_443120 SLC39A11 201266 broad.mit.edu 37 17 70779264 70779266 + Intron DEL GAT - - rs36103922 2012-699:2012-1304-T g.chr17:70779264_70779266delGAT uc002jjb.2 - SLC39A11_uc002jja.2_Intron NM_001159770 NP_001153242 RPTOR 57521 broad.mit.edu 37 17 78814415 78814417 + Intron DEL ACA - - 2012-699:2012-1304-T g.chr17:78814415_78814417delACA uc002jyt.1 + RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 AATK 9625 broad.mit.edu 37 17 79114712 79114735 + Intron DEL TGGGGCCGTGGGACCGTGGGACCA - - rs72181181;rs55778539;rs55658169;rs57924480;rs56345139;rs55655742 by1000genomes 2012-699:2012-1304-T g.chr17:79114712_79114735delTGGGGCCGTGGGACCGTGGGACCA uc010dia.2 - NM_001080395 NP_001073864 KCNG2 26251 broad.mit.edu 37 18 77626809 77626815 + Intron DEL TGTCTGT - - 2012-699:2012-1304-T g.chr18:77626809_77626815delTGTCTGT uc010xfl.1 + NM_012283 NP_036415 PQLC1 80148 broad.mit.edu 37 18 77680381 77680381 + Intron DEL A - - 2012-699:2012-1304-T g.chr18:77680381delA uc002lnl.2 - PQLC1_uc010dre.2_Intron|PQLC1_uc002lnk.2_Intron|PQLC1_uc010xfm.1_Intron NM_025078 NP_079354 INSR 3643 broad.mit.edu 37 19 7153217 7153217 + Intron DEL C - - 2012-699:2012-1304-T g.chr19:7153217delC uc002mgd.1 - INSR_uc002mge.1_Intron|INSR_uc002mgf.2_Intron NM_000208 NP_000199 NOTCH3 4854 broad.mit.edu 37 19 15273600 15273605 + Intron DEL GTGTGC - - rs4019573;rs757473 by1000genomes 2012-699:2012-1304-T g.chr19:15273600_15273605delGTGTGC uc002nan.2 - NM_000435 NP_000426 ZNF547 284306 broad.mit.edu 37 19 58010850 58010851 + Intron INS - CAT CAT 2012-699:2012-1304-T g.chr19:58010850_58010851insCAT uc002qpm.3 + ZNF773_uc002qox.2_5'Flank|ZNF773_uc002qoy.2_5'Flank|ZNF773_uc002qoz.2_5'Flank TSSC1 7260 broad.mit.edu 37 2 3244722 3244722 + Intron DEL C - - rs66631606 2012-699:2012-1304-T g.chr2:3244722delC uc002qxj.2 - TSSC1_uc002qxi.2_Intron NM_003310 NP_003301 DYSF 8291 broad.mit.edu 37 2 71798588 71798589 + Intron DEL AG - - 2012-699:2012-1304-T g.chr2:71798588_71798589delAG uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron NM_003494 NP_003485 DYSF 8291 broad.mit.edu 37 2 71799364 71799385 + Intron DEL CACAGATCACACCTAGCACACC - - rs70959302;rs72078337;rs112184497;rs116794045;rs145802178 2012-699:2012-1304-T g.chr2:71799364_71799385delCACAGATCACACCTAGCACACC uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron NM_003494 NP_003485 FBLN7 129804 broad.mit.edu 37 2 112918350 112918353 + Intron DEL GACG - - rs3080948 2012-699:2012-1304-T g.chr2:112918350_112918353delGACG uc002tho.1 + FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Intron|FBLN7_uc010fkj.1_Intron NM_153214 NP_694946 MAP2 4133 broad.mit.edu 37 2 210444005 210444006 + 5'Flank DEL GC - - rs139952237 by1000genomes 2012-699:2012-1304-T g.chr2:210444005_210444006delGC uc002vde.1 + MAP2_uc002vdc.1_Intron|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_5'Flank|MAP2_uc002vdg.1_5'Flank NM_002374 NP_002365 KIF1A 547 broad.mit.edu 37 2 241752051 241752052 + Intron INS - A A 2012-699:2012-1304-T g.chr2:241752051_241752052insA uc002vzy.2 - KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron NM_004321 NP_004312 C20orf26 26074 broad.mit.edu 37 20 20336089 20336090 + Intron DEL TG - - 2012-699:2012-1304-T g.chr20:20336089_20336090delTG uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 C20orf26 26074 broad.mit.edu 37 20 20337176 20337194 + Intron DEL TGAGGGGAGGTGGTCACAC - - rs74196032 2012-699:2012-1304-T g.chr20:20337176_20337194delTGAGGGGAGGTGGTCACAC uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 CDH4 1002 broad.mit.edu 37 20 60330425 60330430 + Intron DEL CACACA - - rs112783033 2012-699:2012-1304-T g.chr20:60330425_60330430delCACACA uc002ybn.1 + CDH4_uc002ybp.1_Intron NM_001794 NP_001785 COL6A1 1291 broad.mit.edu 37 21 47400786 47400789 + 5'Flank DEL TCTG - - rs149845859 by1000genomes 2012-699:2012-1304-T g.chr21:47400786_47400789delTCTG uc002zhu.1 + NM_001848 NP_001839 CACNG2 10369 broad.mit.edu 37 22 37005429 37005429 + Intron DEL C - - rs67954210 2012-699:2012-1304-T g.chr22:37005429delC uc003aps.1 - NM_006078 NP_006069 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45196770 45196770 + Intron DEL C - - 2012-699:2012-1304-T g.chr22:45196770delC uc003bfd.2 + PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|ARHGAP8_uc003bfi.2_Intron|ARHGAP8_uc010gzv.2_Intron|ARHGAP8_uc003bfj.2_Intron|ARHGAP8_uc003bfk.2_Intron|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron NM_181335 NP_851852 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45197118 45197119 + Intron INS - A A 2012-699:2012-1304-T g.chr22:45197118_45197119insA uc003bfd.2 + PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|ARHGAP8_uc003bfi.2_Intron|ARHGAP8_uc010gzv.2_Intron|ARHGAP8_uc003bfj.2_Intron|ARHGAP8_uc003bfk.2_Intron|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron NM_181335 NP_851852 MUC4 4585 broad.mit.edu 37 3 195539326 195539327 + 5'Flank INS - TCAGTG TCAGTG 2012-699:2012-1304-T g.chr3:195539326_195539327insTCAGTG uc011bto.1 - MUC4_uc003fvo.2_5'Flank|MUC4_uc003fvp.2_5'Flank|MUC4_uc010hzv.2_5'Flank NM_018406 NP_060876 CRIPAK 285464 broad.mit.edu 37 4 1388613 1388613 + Frame_Shift_Del DEL C - - 2012-699:2012-1304-T g.chr4:1388613delC uc003gdf.2 + 1 3274 c.314delC c.(313-315)GCCfs p.A105fs NM_175918 NP_787114 ZFYVE28 57732 broad.mit.edu 37 4 2400759 2400760 + Intron INS - A A rs58662992 2012-699:2012-1304-T g.chr4:2400759_2400760insA uc003gex.1 - ZFYVE28_uc011bvl.1_Intron|ZFYVE28_uc003gez.2_Intron NM_020972 NP_066023 DOK7 285489 broad.mit.edu 37 4 3480254 3480257 + Intron DEL AACC - - rs2699430 by1000genomes 2012-699:2012-1304-T g.chr4:3480254_3480257delAACC uc003ghd.2 + DOK7_uc003ghe.2_Intron NM_173660 NP_775931 MAML3 55534 broad.mit.edu 37 4 140811084 140811084 + Frame_Shift_Del DEL C - - rs12506879 by1000genomes 2012-699:2012-1304-T g.chr4:140811084delC uc003ihz.1 - 2 2258 c.1506delG c.(1504-1506)CAGfs p.Q502fs MAML3_uc011chd.1_Intron NM_018717 NP_061187 MAML3 55534 broad.mit.edu 37 4 140811086 140811096 + Frame_Shift_Del DEL GCTGCTGCTGC - - rs67877726;rs72161425;rs79090010 by1000genomes 2012-699:2012-1304-T g.chr4:140811086_140811096delGCTGCTGCTGC uc003ihz.1 - 2 2246_2256 c.1494_1504delGCAGCAGCAGC c.(1492-1506)CAGCAGCAGCAGCAGfs p.Q498fs MAML3_uc011chd.1_Intron NM_018717 NP_061187 MTNR1A 4543 broad.mit.edu 37 4 187461984 187461985 + Intron INS - GAAG GAAG 2012-699:2012-1304-T g.chr4:187461984_187461985insGAAG uc003izd.1 - NM_005958 NP_005949 CEP72 55722 broad.mit.edu 37 5 649198 649199 + Intron DEL TG - - 2012-699:2012-1304-T g.chr5:649198_649199delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650424 650425 + Intron INS - G G 2012-699:2012-1304-T g.chr5:650424_650425insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650616 650617 + Intron INS - G G rs147165357 2012-699:2012-1304-T g.chr5:650616_650617insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650825 650826 + Intron DEL TG - - 2012-699:2012-1304-T g.chr5:650825_650826delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 651179 651180 + Intron DEL TG - - 2012-699:2012-1304-T g.chr5:651179_651180delTG uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1070724 1070724 + Intron DEL C - - 2012-699:2012-1304-T g.chr5:1070724delC uc003jbu.2 - NM_006598 NP_006589 SLC12A7 10723 broad.mit.edu 37 5 1072566 1072566 + Intron DEL C - - 2012-699:2012-1304-T g.chr5:1072566delC uc003jbu.2 - NM_006598 NP_006589 RIOK2 55781 broad.mit.edu 37 5 96514393 96514393 + Intron DEL T - - 2012-699:2012-1304-T g.chr5:96514393delT uc003kmz.2 - RIOK2_uc003kna.3_Intron NM_018343 NP_060813 UNC5A 90249 broad.mit.edu 37 5 176299182 176299183 + Intron INS - A A 2012-699:2012-1304-T g.chr5:176299182_176299183insA uc003mey.2 + UNC5A_uc010jkg.1_Intron NM_133369 NP_588610 ADAMTS2 9509 broad.mit.edu 37 5 178650364 178650367 + Intron DEL CACT - - rs150578307;rs59376923 2012-699:2012-1304-T g.chr5:178650364_178650367delCACT uc003mjw.2 - ADAMTS2_uc011dgm.1_Intron NM_014244 NP_055059 RNF130 55819 broad.mit.edu 37 5 179442619 179442619 + Intron DEL G - - rs66616765 2012-699:2012-1304-T g.chr5:179442619delG uc003mll.1 - RNF130_uc003mlm.1_Intron|MIR340_hsa-mir-340|MI0000802_5'Flank|uc003mln.2_5'Flank NM_018434 NP_060904 TCP10 6953 broad.mit.edu 37 6 167800835 167800836 + 5'Flank INS - GC GC 2012-699:2012-1304-T g.chr6:167800835_167800836insGC uc003qvv.1 - TCP10_uc003qvu.2_5'Flank|TCP10_uc003qvw.2_5'Flank NM_004610 NP_004601 SMOC2 64094 broad.mit.edu 37 6 169014649 169014650 + Intron DEL GG - - 2012-699:2012-1304-T g.chr6:169014649_169014650delGG uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 ADAP1 11033 broad.mit.edu 37 7 946140 946140 + Intron DEL G - - 2012-699:2012-1304-T g.chr7:946140delG uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 C7orf50 84310 broad.mit.edu 37 7 1055827 1055828 + Intron INS - G G 2012-699:2012-1304-T g.chr7:1055827_1055828insG uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 C7orf50 84310 broad.mit.edu 37 7 1055986 1055988 + Intron DEL CGC - - 2012-699:2012-1304-T g.chr7:1055986_1055988delCGC uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 C7orf50 84310 broad.mit.edu 37 7 1056049 1056058 + Intron DEL CAGCGCACGC - - rs144970899 by1000genomes 2012-699:2012-1304-T g.chr7:1056049_1056058delCAGCGCACGC uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 C7orf50 84310 broad.mit.edu 37 7 1056501 1056510 + Intron DEL CACAGCAGCG - - rs72187772;rs149080984 by1000genomes 2012-699:2012-1304-T g.chr7:1056501_1056510delCACAGCAGCG uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 PLXNA4 91584 broad.mit.edu 37 7 132248742 132248744 + Intron DEL CTC - - 2012-699:2012-1304-T g.chr7:132248742_132248744delCTC uc003vra.3 - PLXNA4_uc003vrc.2_Intron|PLXNA4_uc003vrb.2_Intron NM_020911 NP_065962 PLXNA4 91584 broad.mit.edu 37 7 132248793 132248795 + Intron DEL CTC - - 2012-699:2012-1304-T g.chr7:132248793_132248795delCTC uc003vra.3 - PLXNA4_uc003vrc.2_Intron|PLXNA4_uc003vrb.2_Intron NM_020911 NP_065962 PTPRN2 5799 broad.mit.edu 37 7 158112372 158112379 + Intron DEL CAGCCTCT - - rs58024490 2012-699:2012-1304-T g.chr7:158112372_158112379delCAGCCTCT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 ERICH1 157697 broad.mit.edu 37 8 625238 625238 + Intron DEL G - - rs72315442 2012-699:2012-1304-T g.chr8:625238delG uc003wph.2 - ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron|ERICH1_uc003wpi.2_5'Flank NM_207332 NP_997215 CSMD1 64478 broad.mit.edu 37 8 3509655 3509657 + Intron DEL ACC - - 2012-699:2012-1304-T g.chr8:3509655_3509657delACC uc011kwk.1 - NM_033225 NP_150094 MSRA 4482 broad.mit.edu 37 8 10263265 10263282 + Intron DEL ATGTGCTCACACACACCT - - rs113053260;rs116950162;rs61516507;rs73197281 2012-699:2012-1304-T g.chr8:10263265_10263282delATGTGCTCACACACACCT uc003wsx.2 + MSRA_uc011kwx.1_Intron|MSRA_uc003wsz.2_Intron|MSRA_uc003wsy.2_Intron NM_012331 NP_036463 PEBP4 157310 broad.mit.edu 37 8 22623337 22623338 + Intron INS - A A rs71834123 2012-699:2012-1304-T g.chr8:22623337_22623338insA uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623338 22623339 + Intron INS - TC TC rs71834123 2012-699:2012-1304-T g.chr8:22623338_22623339insTC uc003xcn.1 - NM_144962 NP_659399 TOP1MT 116447 broad.mit.edu 37 8 144404648 144404649 + Intron DEL AG - - 2012-699:2012-1304-T g.chr8:144404648_144404649delAG uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 TOP1MT 116447 broad.mit.edu 37 8 144404649 144404655 + Intron DEL GGCACGC - - 2012-699:2012-1304-T g.chr8:144404649_144404655delGGCACGC uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 TOP1MT 116447 broad.mit.edu 37 8 144404729 144404730 + Intron INS - CC CC 2012-699:2012-1304-T g.chr8:144404729_144404730insCC uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 HEATR7A 727957 broad.mit.edu 37 8 145288431 145288432 + Intron INS - C C rs11435979;rs66838432 2012-699:2012-1304-T g.chr8:145288431_145288432insC uc003zbk.3 + HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron NM_032450 NP_115826 POMT1 10585 broad.mit.edu 37 9 134391451 134391451 + Intron DEL A - - 2012-699:2012-1304-T g.chr9:134391451delA uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 COL5A1 1289 broad.mit.edu 37 9 137577276 137577276 + Intron DEL C - - 2012-699:2012-1304-T g.chr9:137577276delC uc004cfe.2 + NM_000093 NP_000084 OLFM1 10439 broad.mit.edu 37 9 137983509 137983510 + Intron INS - GT GT rs139462521;rs72348057 2012-699:2012-1304-T g.chr9:137983509_137983510insGT uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfk.3_Intron|OLFM1_uc004cfm.3_Intron NM_014279 NP_055094 OLFM1 10439 broad.mit.edu 37 9 137983512 137983513 + Intron DEL GT - - rs114526529 2012-699:2012-1304-T g.chr9:137983512_137983513delGT uc010nar.2 + OLFM1_uc004cfl.3_Intron|OLFM1_uc004cfk.3_Intron|OLFM1_uc004cfm.3_Intron NM_014279 NP_055094 NOTCH1 4851 broad.mit.edu 37 9 139399181 139399181 + Frame_Shift_Del DEL A - - 2012-699:2012-1304-T g.chr9:139399181delA uc004chz.2 - 26 4962 c.4962delT c.(4960-4962)CCTfs p.P1654fs NOTCH1_uc004cia.1_Frame_Shift_Del_p.P884fs NM_017617 NP_060087 ZMYND19 116225 broad.mit.edu 37 9 140480805 140480808 + Intron DEL GAAG - - 2012-699:2012-1304-T g.chr9:140480805_140480808delGAAG uc004cno.1 - NM_138462 NP_612471 AGRN 375790 broad.mit.edu 37 1 965010 965015 + Intron DEL TGTGTG - - rs35510832 2012-701:2012-1307-T g.chr1:965010_965015delTGTGTG uc001ack.1 + NM_198576 NP_940978 SCNN1D 6339 broad.mit.edu 37 1 1223680 1223681 + Intron INS - CC CC 2012-701:2012-1307-T g.chr1:1223680_1223681insCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 PRDM16 63976 broad.mit.edu 37 1 3097497 3097498 + Intron INS - TT TT rs76684232;rs77036820 2012-701:2012-1307-T g.chr1:3097497_3097498insTT uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 EPHA8 2046 broad.mit.edu 37 1 22904391 22904392 + Intron DEL TG - - 2012-701:2012-1307-T g.chr1:22904391_22904392delTG uc001bfx.1 + EPHA8_uc001bfw.2_Intron NM_020526 NP_065387 CUBN 8029 broad.mit.edu 37 10 16911556 16911557 + Intron INS - C C 2012-701:2012-1307-T g.chr10:16911556_16911557insC uc001ioo.2 - CUBN_uc009xjq.1_Intron NM_001081 NP_001072 ADAM12 8038 broad.mit.edu 37 10 127789606 127789606 + Intron DEL T - - rs79010435 2012-701:2012-1307-T g.chr10:127789606delT uc001ljk.2 - ADAM12_uc010qul.1_Intron|ADAM12_uc001ljm.2_Intron|ADAM12_uc001ljn.2_Intron|ADAM12_uc001ljl.3_Intron NM_003474 NP_003465 GPR123 84435 broad.mit.edu 37 10 134892492 134892494 + Intron DEL TTG - - 2012-701:2012-1307-T g.chr10:134892492_134892494delTTG uc001llw.2 + GPR123 84435 broad.mit.edu 37 10 134892523 134892526 + Intron DEL GTGT - - 2012-701:2012-1307-T g.chr10:134892523_134892526delGTGT uc001llw.2 + WT1 7490 broad.mit.edu 37 11 32452809 32452809 + Intron DEL C - - 2012-701:2012-1307-T g.chr11:32452809delC uc001mtn.1 - WT1_uc001mtl.1_5'Flank|WT1_uc001mtm.1_5'Flank|WT1_uc001mto.1_Intron|WT1_uc001mtp.1_Intron|WT1_uc001mtq.1_Intron|WT1_uc009yjs.1_Intron NM_024426 NP_077744 SPI1 6688 broad.mit.edu 37 11 47380277 47380278 + Intron DEL CA - - rs72160162 2012-701:2012-1307-T g.chr11:47380277_47380278delCA uc001nfc.1 - SPI1_uc001nfb.1_Intron|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Frame_Shift_Del_p.C198fs NM_003120 NP_003111 B4GALNT3 283358 broad.mit.edu 37 12 620677 620679 + Intron DEL CTT - - 2012-701:2012-1307-T g.chr12:620677_620679delCTT uc001qii.1 + NM_173593 NP_775864 MLL2 8085 broad.mit.edu 37 12 49444809 49444809 + Frame_Shift_Del DEL G - - 2012-701:2012-1307-T g.chr12:49444809delG uc001rta.3 - 10 2657 c.2657delC c.(2656-2658)CCTfs p.P886fs NM_003482 NP_003473 GALNT9 50614 broad.mit.edu 37 12 132868127 132868127 + Intron DEL C - - rs146222139 by1000genomes 2012-701:2012-1307-T g.chr12:132868127delC uc001ukc.3 - GALNT9_uc009zys.2_Intron NM_001122636 NP_001116108 FARP1 10160 broad.mit.edu 37 13 99003377 99003377 + Intron DEL T - - 2012-701:2012-1307-T g.chr13:99003377delT uc001vnj.2 + FARP1_uc001vnh.2_Intron NM_005766 NP_005757 FARP1 10160 broad.mit.edu 37 13 99003381 99003382 + Intron INS - CC CC 2012-701:2012-1307-T g.chr13:99003381_99003382insCC uc001vnj.2 + FARP1_uc001vnh.2_Intron NM_005766 NP_005757 ACTN1 87 broad.mit.edu 37 14 69366094 69366095 + Intron INS - CC CC rs147758633 2012-701:2012-1307-T g.chr14:69366094_69366095insCC uc001xkl.2 - ACTN1_uc010ttb.1_Intron|ACTN1_uc001xkm.2_Intron|ACTN1_uc001xkn.2_Intron|ACTN1_uc001xko.1_Intron|ACTN1_uc010ttd.1_Intron NM_001102 NP_001093 PSEN1 5663 broad.mit.edu 37 14 73685388 73685388 + Intron DEL T - - 2012-701:2012-1307-T g.chr14:73685388delT uc001xnr.2 + PSEN1_uc001xnv.2_Intron|PSEN1_uc010ark.2_Intron|PSEN1_uc001xnu.2_Intron NM_000021 NP_000012 INF2 64423 broad.mit.edu 37 14 105326173 105326173 + Intron DEL C - - 2012-701:2012-1307-T g.chr14:105326173delC uc010tyi.1 + NM_022489 NP_071934 MYO9A 4649 broad.mit.edu 37 15 72395696 72395698 + Intron DEL AGA - - 2012-701:2012-1307-T g.chr15:72395696_72395698delAGA uc002atl.3 - MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Intron NM_006901 NP_008832 MC1R 4157 broad.mit.edu 37 16 89981345 89981346 + 5'Flank INS - TG TG rs145110534 by1000genomes 2012-701:2012-1307-T g.chr16:89981345_89981346insTG uc002fpe.3 + uc010ciy.1_RNA NM_002386 NP_002377 RPH3AL 9501 broad.mit.edu 37 17 165135 165136 + Intron DEL CT - - rs72486900 2012-701:2012-1307-T g.chr17:165135_165136delCT uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 VPS53 55275 broad.mit.edu 37 17 424097 424098 + Intron INS - G G rs34035787 2012-701:2012-1307-T g.chr17:424097_424098insG uc010cjo.1 - VPS53_uc002frk.2_Intron NM_001128159 NP_001121631 TP53 7157 broad.mit.edu 37 17 7576896 7576897 + Frame_Shift_Ins INS - G G 2012-701:2012-1307-T g.chr17:7576896_7576897insG uc002gim.2 - 9 1143_1144 c.949_950insC c.(949-951)CAGfs p.Q317fs TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Ins_p.Q317fs|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Frame_Shift_Ins_p.Q185fs|TP53_uc010cng.1_Frame_Shift_Ins_p.Q185fs|TP53_uc002gii.1_Frame_Shift_Ins_p.Q185fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.Q317fs|TP53_uc010cni.1_Frame_Shift_Ins_p.Q317fs|TP53_uc002gij.2_Frame_Shift_Ins_p.Q317fs NM_001126112 NP_001119584 TP53 7157 broad.mit.edu 37 17 7579311 7579311 + Splice_Site DEL C - - 2012-701:2012-1307-T g.chr17:7579311delC uc002gim.2 - 4 569 c.375_splice c.e4+1 p.T125_splice TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice NM_001126112 NP_001119584 MC2R 4158 broad.mit.edu 37 18 13887386 13887387 + Intron DEL AA - - 2012-701:2012-1307-T g.chr18:13887386_13887387delAA uc002ksp.1 - NM_000529 NP_000520 C18orf45 85019 broad.mit.edu 37 18 20855557 20855558 + Intron INS - GTGCT GTGCT rs149794049 2012-701:2012-1307-T g.chr18:20855557_20855558insGTGCT uc010xaq.1 - ZNF407 55628 broad.mit.edu 37 18 72384382 72384383 + Intron INS - TGTT TGTT rs71767044 2012-701:2012-1307-T g.chr18:72384382_72384383insTGTT uc002llw.2 + ZNF407_uc010xfc.1_Intron|ZNF407_uc010dqu.1_Intron NM_017757 NP_060227 C3 718 broad.mit.edu 37 19 6717583 6717591 + Intron DEL TTGTGTGTG - - rs72223178 2012-701:2012-1307-T g.chr19:6717583_6717591delTTGTGTGTG uc002mfm.2 - NM_000064 NP_000055 LYPD5 284348 broad.mit.edu 37 19 44302254 44302254 + Intron DEL C - - rs112453679 2012-701:2012-1307-T g.chr19:44302254delC uc002oxm.3 - LYPD5_uc002oxn.3_Intron NM_001031749 NP_001026919 CACNG7 59284 broad.mit.edu 37 19 54425592 54425592 + Intron DEL C - - 2012-701:2012-1307-T g.chr19:54425592delC uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 SH3YL1 26751 broad.mit.edu 37 2 236029 236030 + Intron INS - GCA GCA 2012-701:2012-1307-T g.chr2:236029_236030insGCA uc002qvx.2 - SH3YL1_uc002qvy.2_Intron|SH3YL1_uc002qvz.2_Intron|SH3YL1_uc002qwa.2_Intron|SH3YL1_uc010ewe.2_Intron|SH3YL1_uc002qvu.2_Intron|SH3YL1_uc002qvv.2_Intron|SH3YL1_uc002qvw.2_Intron NM_015677 NP_056492 SH3YL1 26751 broad.mit.edu 37 2 236074 236089 + Intron DEL GCATGGGCCAGGGGAG - - rs111712181;rs68110616 2012-701:2012-1307-T g.chr2:236074_236089delGCATGGGCCAGGGGAG uc002qvx.2 - SH3YL1_uc002qvy.2_Intron|SH3YL1_uc002qvz.2_Intron|SH3YL1_uc002qwa.2_Intron|SH3YL1_uc010ewe.2_Intron|SH3YL1_uc002qvu.2_Intron|SH3YL1_uc002qvv.2_Intron|SH3YL1_uc002qvw.2_Intron NM_015677 NP_056492 SH3YL1 26751 broad.mit.edu 37 2 236259 236260 + Intron INS - GCA GCA 2012-701:2012-1307-T g.chr2:236259_236260insGCA uc002qvx.2 - SH3YL1_uc002qvy.2_Intron|SH3YL1_uc002qvz.2_Intron|SH3YL1_uc002qwa.2_Intron|SH3YL1_uc010ewe.2_Intron|SH3YL1_uc002qvu.2_Intron|SH3YL1_uc002qvv.2_Intron|SH3YL1_uc002qvw.2_Intron NM_015677 NP_056492 PXDN 7837 broad.mit.edu 37 2 1707383 1707383 + Intron DEL A - - rs78526478 2012-701:2012-1307-T g.chr2:1707383delA uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 AGXT 189 broad.mit.edu 37 2 241811900 241811902 + Intron DEL GGC - - 2012-701:2012-1307-T g.chr2:241811900_241811902delGGC uc002waa.3 + AGXT_uc010zoi.1_Intron NM_000030 NP_000021 TRPM2 7226 broad.mit.edu 37 21 45848265 45848266 + Intron INS - C C 2012-701:2012-1307-T g.chr21:45848265_45848266insC uc002zet.1 + TRPM2_uc002zeu.1_Intron|TRPM2_uc002zew.1_Intron|TRPM2_uc010gpt.1_Intron|TRPM2_uc002zex.1_Intron|TRPM2_uc002zey.1_Intron|uc011afe.1_5'Flank|TRPM2_uc011aff.1_Intron NM_003307 NP_003298 PHF21B 112885 broad.mit.edu 37 22 45280449 45280450 + Intron INS - CAC CAC rs139139250;rs147289174 by1000genomes 2012-701:2012-1307-T g.chr22:45280449_45280450insCAC uc003bfn.2 - PHF21B_uc003bfm.2_Intron|PHF21B_uc011aqk.1_Intron|PHF21B_uc011aql.1_Intron NM_138415 NP_612424 IFT122 55764 broad.mit.edu 37 3 129235833 129235834 + Intron DEL CA - - 2012-701:2012-1307-T g.chr3:129235833_129235834delCA uc003emm.2 + IFT122_uc003eml.2_Intron|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Intron|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Intron NM_052989 NP_443715 GAK 2580 broad.mit.edu 37 4 850214 850215 + Intron INS - C C rs33969402 2012-701:2012-1307-T g.chr4:850214_850215insC uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibi.2_Intron|GAK_uc010ibj.2_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 RGS12 6002 broad.mit.edu 37 4 3364580 3364583 + Intron DEL GTGT - - rs77054072 by1000genomes 2012-701:2012-1307-T g.chr4:3364580_3364583delGTGT uc003ggw.2 + RGS12_uc003ggu.2_Intron|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Intron|RGS12_uc003ggv.2_Intron|RGS12_uc003ggy.1_Intron NM_198229 NP_937872 SLC12A7 10723 broad.mit.edu 37 5 1072242 1072242 + Intron DEL C - - 2012-701:2012-1307-T g.chr5:1072242delC uc003jbu.2 - NM_006598 NP_006589 FAT2 2196 broad.mit.edu 37 5 150945935 150945935 + Frame_Shift_Del DEL C - - 2012-701:2012-1307-T g.chr5:150945935delC uc003lue.3 - 1 2571 c.2558delG c.(2557-2559)GGCfs p.G853fs GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Frame_Shift_Del_p.G853fs NM_001447 NP_001438 NSD1 64324 broad.mit.edu 37 5 176671252 176671252 + Frame_Shift_Del DEL T - - 2012-701:2012-1307-T g.chr5:176671252delT uc003mfr.3 + 9 4497 c.4359delT c.(4357-4359)TATfs p.Y1453fs NSD1_uc003mft.3_Frame_Shift_Del_p.Y1184fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.Y1350fs|NSD1_uc011dfx.1_Frame_Shift_Del_p.Y1101fs NM_022455 NP_071900 EXOC2 55770 broad.mit.edu 37 6 519816 519816 + Intron DEL G - - 2012-701:2012-1307-T g.chr6:519816delG uc003mtd.2 - EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron NM_018303 NP_060773 TMEM181 57583 broad.mit.edu 37 6 159047961 159047966 + Intron DEL CTCATT - - rs71030182;rs140164490 by1000genomes 2012-701:2012-1307-T g.chr6:159047961_159047966delCTCATT uc003qrm.3 + TMEM181_uc010kjr.1_Intron NM_020823 NP_065874 SUN1 23353 broad.mit.edu 37 7 873703 873703 + Intron DEL G - - rs66513784 2012-701:2012-1307-T g.chr7:873703delG uc011jvp.1 + SUN1_uc010ksa.1_Intron|SUN1_uc003sje.1_Intron|SUN1_uc003sjf.2_Intron|SUN1_uc011jvq.1_Intron NM_001130965 NP_001124437 SUN1 23353 broad.mit.edu 37 7 873707 873707 + Intron DEL T - - rs58126002 2012-701:2012-1307-T g.chr7:873707delT uc011jvp.1 + SUN1_uc010ksa.1_Intron|SUN1_uc003sje.1_Intron|SUN1_uc003sjf.2_Intron|SUN1_uc011jvq.1_Intron NM_001130965 NP_001124437 ADAP1 11033 broad.mit.edu 37 7 946163 946164 + Intron INS - A A rs61000036 2012-701:2012-1307-T g.chr7:946163_946164insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 946233 946234 + Intron INS - A A 2012-701:2012-1307-T g.chr7:946233_946234insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 ADAP1 11033 broad.mit.edu 37 7 946244 946244 + Intron DEL G - - 2012-701:2012-1307-T g.chr7:946244delG uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 RAC1 5879 broad.mit.edu 37 7 6415789 6415790 + Intron INS - T T rs146855056;rs34420518 by1000genomes 2012-701:2012-1307-T g.chr7:6415789_6415790insT uc003spx.2 + RAC1_uc003spw.2_Intron NM_006908 NP_008839 AUTS2 26053 broad.mit.edu 37 7 69961766 69961769 + Intron DEL CAGA - - 2012-701:2012-1307-T g.chr7:69961766_69961769delCAGA uc003tvw.3 + AUTS2_uc003tvx.3_Intron NM_015570 NP_056385 PTPRN2 5799 broad.mit.edu 37 7 157568938 157568939 + Intron INS - C C rs149422515 by1000genomes 2012-701:2012-1307-T g.chr7:157568938_157568939insC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PTPRN2 5799 broad.mit.edu 37 7 157917927 157917927 + Intron DEL T - - rs76194301 2012-701:2012-1307-T g.chr7:157917927delT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 MMP16 4325 broad.mit.edu 37 8 89086984 89086985 + Intron INS - A A 2012-701:2012-1307-T g.chr8:89086984_89086985insA uc003yeb.3 - MMP16_uc003yec.2_Intron NM_005941 NP_005932 SCNN1D 6339 broad.mit.edu 37 1 1224604 1224605 + Intron DEL CC - - 2012-702:2012-1308-T g.chr1:1224604_1224605delCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 PRDM16 63976 broad.mit.edu 37 1 3030870 3030871 + Intron DEL CA - - 2012-702:2012-1308-T g.chr1:3030870_3030871delCA uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 PRDM16 63976 broad.mit.edu 37 1 3097510 3097511 + Intron DEL TT - - rs75792514 2012-702:2012-1308-T g.chr1:3097510_3097511delTT uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 CHD5 26038 broad.mit.edu 37 1 6220295 6220296 + Intron INS - AA AA 2012-702:2012-1308-T g.chr1:6220295_6220296insAA uc001amb.1 - NM_015557 NP_056372 CHD5 26038 broad.mit.edu 37 1 6220296 6220297 + Intron INS - A A 2012-702:2012-1308-T g.chr1:6220296_6220297insA uc001amb.1 - NM_015557 NP_056372 CHD5 26038 broad.mit.edu 37 1 6220398 6220399 + Intron INS - A A 2012-702:2012-1308-T g.chr1:6220398_6220399insA uc001amb.1 - NM_015557 NP_056372 CHD5 26038 broad.mit.edu 37 1 6220399 6220400 + Intron INS - AA AA 2012-702:2012-1308-T g.chr1:6220399_6220400insAA uc001amb.1 - NM_015557 NP_056372 NBPF1 55672 broad.mit.edu 37 1 16892272 16892273 + Frame_Shift_Ins INS - T T 2012-702:2012-1308-T g.chr1:16892272_16892273insT uc009vos.1 - 28 4032_4033 c.3144_3145insA c.(3142-3147)GTAGAGfs p.V1048fs uc001ayw.2_5'Flank NM_017940 NP_060410 NBPF1 55672 broad.mit.edu 37 1 16892277 16892277 + Frame_Shift_Del DEL G - - 2012-702:2012-1308-T g.chr1:16892277delG uc009vos.1 - 28 4028 c.3140delC c.(3139-3141)GCAfs p.A1047fs uc001ayw.2_5'Flank NM_017940 NP_060410 CD247 919 broad.mit.edu 37 1 167404322 167404333 + Intron DEL CCTCCAGCCCTA - - rs111245491 2012-702:2012-1308-T g.chr1:167404322_167404333delCCTCCAGCCCTA uc001gei.3 - CD247_uc001gej.3_Intron|CD247_uc001gek.2_In_Frame_Del_p.213_217GRAGG>G NM_198053 NP_932170 FMN2 56776 broad.mit.edu 37 1 240348248 240348249 + Intron INS - C C rs150876511 by1000genomes 2012-702:2012-1308-T g.chr1:240348248_240348249insC uc010pyd.1 + FMN2_uc010pye.1_Intron NM_020066 NP_064450 WDR37 22884 broad.mit.edu 37 10 1174744 1174757 + Intron DEL TGCTCGGCGGTCCA - - 2012-702:2012-1308-T g.chr10:1174744_1174757delTGCTCGGCGGTCCA uc001igf.1 + WDR37_uc009xhm.1_Intron|WDR37_uc009xhn.1_Intron|WDR37_uc001igg.1_Intron NM_014023 NP_054742 CCDC6 8030 broad.mit.edu 37 10 61642217 61642221 + Intron DEL AAGGA - - 2012-702:2012-1308-T g.chr10:61642217_61642221delAAGGA uc001jks.3 - NM_005436 NP_005427 ANK3 288 broad.mit.edu 37 10 62408622 62408627 + Intron DEL CTGCTC - - rs113110006;rs76463677 2012-702:2012-1308-T g.chr10:62408622_62408627delCTGCTC uc001jkz.3 - NM_001149 NP_001140 MUC5B 727897 broad.mit.edu 37 11 1160137 1160137 + Intron DEL T - - 2012-702:2012-1308-T g.chr11:1160137delT uc009ycr.1 + NM_017511 NP_059981 CTSD 1509 broad.mit.edu 37 11 1775771 1775772 + Intron INS - G G 2012-702:2012-1308-T g.chr11:1775771_1775772insG uc001luc.1 - CTSD_uc009yda.1_Intron NM_001909 NP_001900 MACROD1 28992 broad.mit.edu 37 11 63777763 63777764 + Intron INS - GG GG 2012-702:2012-1308-T g.chr11:63777763_63777764insGG uc001nyh.2 - NM_014067 NP_054786 ST8SIA1 6489 broad.mit.edu 37 12 22473890 22473891 + Intron DEL AG - - rs67961020;rs112501570 2012-702:2012-1308-T g.chr12:22473890_22473891delAG uc001rfo.3 - ST8SIA1_uc009zix.2_Intron NM_003034 NP_003025 GPR133 283383 broad.mit.edu 37 12 131578489 131578491 + Intron DEL CAG - - rs72163366 2012-702:2012-1308-T g.chr12:131578489_131578491delCAG uc001uit.3 + GPR133_uc010tbm.1_Intron|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Intron NM_198827 NP_942122 F7 2155 broad.mit.edu 37 13 113766045 113766046 + Intron INS - CACT CACT rs10662508;rs72088242 2012-702:2012-1308-T g.chr13:113766045_113766046insCACT uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 TFDP1 7027 broad.mit.edu 37 13 114279684 114279685 + Intron DEL GC - - 2012-702:2012-1308-T g.chr13:114279684_114279685delGC uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 GAS6 2621 broad.mit.edu 37 13 114544717 114544718 + Intron INS - C C 2012-702:2012-1308-T g.chr13:114544717_114544718insC uc001vud.2 - uc010tki.1_5'Flank NM_000820 NP_000811 RASA3 22821 broad.mit.edu 37 13 114794977 114794977 + Intron DEL G - - 2012-702:2012-1308-T g.chr13:114794977delG uc001vui.2 - RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron|RASA3_uc010aha.1_Intron NM_007368 NP_031394 RASA3 22821 broad.mit.edu 37 13 114873759 114873760 + Intron INS - TG TG 2012-702:2012-1308-T g.chr13:114873759_114873760insTG uc001vui.2 - RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron NM_007368 NP_031394 RASA3 22821 broad.mit.edu 37 13 114876584 114876585 + Intron INS - C C 2012-702:2012-1308-T g.chr13:114876584_114876585insC uc001vui.2 - RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron NM_007368 NP_031394 DECR2 26063 broad.mit.edu 37 16 458213 458214 + Intron DEL CT - - 2012-702:2012-1308-T g.chr16:458213_458214delCT uc002chb.2 + DECR2_uc002chc.2_Intron|DECR2_uc010bqv.2_Intron|DECR2_uc002chd.2_Intron|DECR2_uc002che.1_Intron NM_020664 NP_065715 LMF1 64788 broad.mit.edu 37 16 1001116 1001118 + Intron DEL AAT - - rs144218528 by1000genomes 2012-702:2012-1308-T g.chr16:1001116_1001118delAAT uc002ckj.2 - LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron|LMF1_uc010uuu.1_Intron|LMF1_uc010uuv.1_Intron NM_022773 NP_073610 MAPK8IP3 23162 broad.mit.edu 37 16 1790072 1790073 + Intron INS - GT GT rs147521986 2012-702:2012-1308-T g.chr16:1790072_1790073insGT uc002cmk.2 + MAPK8IP3_uc002cmi.1_Intron|MAPK8IP3_uc002cmj.1_Intron|MAPK8IP3_uc002cml.2_Intron|MAPK8IP3_uc010uvl.1_Intron NM_015133 NP_055948 SCNN1B 6338 broad.mit.edu 37 16 23327343 23327344 + Intron DEL AT - - 2012-702:2012-1308-T g.chr16:23327343_23327344delAT uc002dln.2 + NM_000336 NP_000327 CMIP 80790 broad.mit.edu 37 16 81660797 81660798 + Intron DEL GT - - rs150599312 by1000genomes 2012-702:2012-1308-T g.chr16:81660797_81660798delGT uc002fgp.2 + CMIP_uc002fgq.1_Intron|CMIP_uc010vnq.1_Intron NM_198390 NP_938204 JPH3 57338 broad.mit.edu 37 16 87637893 87637894 + Intron INS - CTGCTG CTGCTG 2012-702:2012-1308-T g.chr16:87637893_87637894insCTGCTG uc002fkd.2 + JPH3_uc010vou.1_Intron NM_020655 NP_065706 RPH3AL 9501 broad.mit.edu 37 17 138602 138603 + Intron INS - CT CT 2012-702:2012-1308-T g.chr17:138602_138603insCT uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 ABR 29 broad.mit.edu 37 17 1049922 1049922 + Intron DEL C - - 2012-702:2012-1308-T g.chr17:1049922delC uc002fsd.2 - ABR_uc002fse.2_Intron NM_021962 NP_068781 RPTOR 57521 broad.mit.edu 37 17 78814411 78814413 + Intron DEL CAC - - rs35184984 2012-702:2012-1308-T g.chr17:78814411_78814413delCAC uc002jyt.1 + RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 RPTOR 57521 broad.mit.edu 37 17 78904126 78904131 + Intron DEL CTCATC - - rs71886122 2012-702:2012-1308-T g.chr17:78904126_78904131delCTCATC uc002jyt.1 + RPTOR_uc010wug.1_Intron NM_020761 NP_065812 FSCN2 25794 broad.mit.edu 37 17 79502869 79502874 + Intron DEL CCATCT - - rs150877731 by1000genomes 2012-702:2012-1308-T g.chr17:79502869_79502874delCCATCT uc010wup.1 + FSCN2_uc010wuo.1_Intron NM_012418 NP_036550 TBCD 6904 broad.mit.edu 37 17 80807914 80807923 + Intron DEL GTTGGCTGTG - - 2012-702:2012-1308-T g.chr17:80807914_80807923delGTTGGCTGTG uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 TBCD 6904 broad.mit.edu 37 17 80807929 80807938 + Intron DEL GTTGGCTGTG - - 2012-702:2012-1308-T g.chr17:80807929_80807938delGTTGGCTGTG uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 TCF3 6929 broad.mit.edu 37 19 1642192 1642197 + Intron DEL CAGACG - - rs11276687;rs10526220 2012-702:2012-1308-T g.chr19:1642192_1642197delCAGACG uc002ltr.2 - TCF3_uc002ltt.3_Intron|TCF3_uc002ltq.2_Intron NM_003200 NP_003191 TJP3 27134 broad.mit.edu 37 19 3738078 3738079 + Intron INS - TGGCTGTGTCCAT TGGCTGTGTCCAT rs142823722;rs147618620 by1000genomes 2012-702:2012-1308-T g.chr19:3738078_3738079insTGGCTGTGTCCAT uc010xhv.1 + TJP3_uc010xhs.1_Intron|TJP3_uc010xht.1_Intron|TJP3_uc010xhu.1_Intron|TJP3_uc010xhw.1_Intron NM_014428 NP_055243 NOTCH3 4854 broad.mit.edu 37 19 15273598 15273605 + Intron DEL GTGTGTGC - - rs4019573;rs757473 by1000genomes 2012-702:2012-1308-T g.chr19:15273598_15273605delGTGTGTGC uc002nan.2 - NM_000435 NP_000426 DMKN 93099 broad.mit.edu 37 19 36002368 36002370 + In_Frame_Del DEL CCA - - rs142091185 byFrequency 2012-702:2012-1308-T g.chr19:36002368_36002370delCCA uc002nzm.3 - 5 1044_1046 c.861_863delTGG c.(859-864)GGTGGC>GGC p.287_288GG>G DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Intron|DMKN_uc002nzn.3_Intron|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_RNA|DMKN_uc002oac.3_In_Frame_Del_p.287_288GG>G|DMKN_uc010eeb.2_In_Frame_Del_p.287_288GG>G|DMKN_uc002oaa.3_In_Frame_Del_p.287_288GG>G|DMKN_uc002oab.3_In_Frame_Del_p.287_288GG>G NM_033317 NP_201574 CACNG7 59284 broad.mit.edu 37 19 54428870 54428870 + Intron DEL T - - 2012-702:2012-1308-T g.chr19:54428870delT uc002qcr.1 + CACNG7_uc010era.1_Intron NM_031896 NP_114102 ZNF547 284306 broad.mit.edu 37 19 58010926 58010928 + Intron DEL CAT - - 2012-702:2012-1308-T g.chr19:58010926_58010928delCAT uc002qpm.3 + ZNF773_uc002qox.2_5'Flank|ZNF773_uc002qoy.2_5'Flank|ZNF773_uc002qoz.2_5'Flank DYSF 8291 broad.mit.edu 37 2 71799364 71799385 + Intron DEL CACAGATCACACCTAGCACACC - - rs70959302;rs72078337;rs112184497;rs116794045;rs145802178 2012-702:2012-1308-T g.chr2:71799364_71799385delCACAGATCACACCTAGCACACC uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron NM_003494 NP_003485 RMND5A 64795 broad.mit.edu 37 2 87625439 87625439 + Intron DEL G - - rs143783582 by1000genomes 2012-702:2012-1308-T g.chr2:87625439delG uc002srs.3 + FBLN7 129804 broad.mit.edu 37 2 112918282 112918283 + Intron DEL CA - - rs5833435;rs3080966 2012-702:2012-1308-T g.chr2:112918282_112918283delCA uc002tho.1 + FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Intron|FBLN7_uc010fkj.1_Intron NM_153214 NP_694946 FBLN7 129804 broad.mit.edu 37 2 112918316 112918317 + Intron DEL CA - - rs5833436;rs3080965 2012-702:2012-1308-T g.chr2:112918316_112918317delCA uc002tho.1 + FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Intron|FBLN7_uc010fkj.1_Intron NM_153214 NP_694946 FBLN7 129804 broad.mit.edu 37 2 112918328 112918329 + Intron DEL CG - - rs5833437;rs28373572 by1000genomes 2012-702:2012-1308-T g.chr2:112918328_112918329delCG uc002tho.1 + FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Intron|FBLN7_uc010fkj.1_Intron NM_153214 NP_694946 AGAP1 116987 broad.mit.edu 37 2 236672730 236672731 + Intron DEL AT - - rs139452833;rs2696409 byFrequency 2012-702:2012-1308-T g.chr2:236672730_236672731delAT uc002vvs.2 + AGAP1_uc002vvt.2_Intron NM_001037131 NP_001032208 KIF1A 547 broad.mit.edu 37 2 241752051 241752052 + Intron INS - A A 2012-702:2012-1308-T g.chr2:241752051_241752052insA uc002vzy.2 - KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron NM_004321 NP_004312 C20orf26 26074 broad.mit.edu 37 20 20338576 20338577 + Intron INS - TG TG 2012-702:2012-1308-T g.chr20:20338576_20338577insTG uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 CDH4 1002 broad.mit.edu 37 20 59858167 59858188 + Intron DEL ACGTGCGTTTGCACGCGCGTGC - - rs146204447 by1000genomes 2012-702:2012-1308-T g.chr20:59858167_59858188delACGTGCGTTTGCACGCGCGTGC uc002ybn.1 + NM_001794 NP_001785 ZBTB46 140685 broad.mit.edu 37 20 62447481 62447495 + Intron DEL GCAGGTGCAGTGGGT - - rs5842433;rs4997553 by1000genomes 2012-702:2012-1308-T g.chr20:62447481_62447495delGCAGGTGCAGTGGGT uc002ygu.2 - uc002ygw.2_Intron NM_025224 UCKL1 54963 broad.mit.edu 37 20 62579932 62579932 + Intron DEL A - - rs60744241 by1000genomes 2012-702:2012-1308-T g.chr20:62579932delA uc010gkn.2 - UCKL1_uc011abm.1_Intron|UCKL1_uc011abn.1_Intron|UCKL1_uc011abo.1_Intron NM_017859 NP_060329 MYT1 4661 broad.mit.edu 37 20 62833352 62833353 + Intron INS - T T rs147803193 by1000genomes 2012-702:2012-1308-T g.chr20:62833352_62833353insT uc002yii.2 + MYT1_uc002yih.2_Intron NM_004535 NP_004526 MYT1 4661 broad.mit.edu 37 20 62833371 62833371 + Intron DEL C - - 2012-702:2012-1308-T g.chr20:62833371delC uc002yii.2 + MYT1_uc002yih.2_Intron NM_004535 NP_004526 TRAPPC10 7109 broad.mit.edu 37 21 45508674 45508675 + Intron INS - C C rs141699369;rs35761683 by1000genomes 2012-702:2012-1308-T g.chr21:45508674_45508675insC uc002zea.2 + TRAPPC10_uc010gpo.2_Intron|TRAPPC10_uc011afa.1_Intron|TRAPPC10_uc011afb.1_5'Flank NM_003274 NP_003265 ADARB1 104 broad.mit.edu 37 21 46554035 46554036 + Intron DEL GC - - 2012-702:2012-1308-T g.chr21:46554035_46554036delGC uc002zgy.2 + ADARB1_uc002zgp.2_Intron|ADARB1_uc002zgr.2_Intron|ADARB1_uc002zgs.2_Intron|ADARB1_uc002zgw.2_Intron|ADARB1_uc002zgv.2_Intron|ADARB1_uc002zgt.2_Intron|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_Intron|ADARB1_uc002zgu.2_Intron NM_015833 NP_056648 COL18A1 80781 broad.mit.edu 37 21 46904054 46904055 + Intron INS - AC AC rs144630058;rs67624658 by1000genomes 2012-702:2012-1308-T g.chr21:46904054_46904055insAC uc011afs.1 + COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Intron NM_130444 NP_569711 SLC19A1 6573 broad.mit.edu 37 21 46947500 46947500 + Intron DEL A - - rs4818788 2012-702:2012-1308-T g.chr21:46947500delA uc002zhl.1 - SLC19A1_uc010gpy.1_Intron|SLC19A1_uc011aft.1_Intron|SLC19A1_uc002zhm.1_Intron|SLC19A1_uc010gpz.1_Intron NM_194255 NP_919231 PCBP3 54039 broad.mit.edu 37 21 47235728 47235734 + Intron DEL GTGAGTG - - 2012-702:2012-1308-T g.chr21:47235728_47235734delGTGAGTG uc010gqb.2 + NM_020528 NP_065389 MPPED1 758 broad.mit.edu 37 22 43887611 43887612 + Intron INS - GGTGGTGGTGATGGA GGTGGTGGTGATGGA 2012-702:2012-1308-T g.chr22:43887611_43887612insGGTGGTGGTGATGGA uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 KIAA1644 85352 broad.mit.edu 37 22 44665409 44665410 + Intron DEL AC - - rs142804654 2012-702:2012-1308-T g.chr22:44665409_44665410delAC uc003bet.2 - NM_001099294 NP_001092764 TTLL8 164714 broad.mit.edu 37 22 50495574 50495575 + 5'Flank INS - G G 2012-702:2012-1308-T g.chr22:50495574_50495575insG uc011ark.1 - NM_001080447 NP_001073916 TTLL8 164714 broad.mit.edu 37 22 50495582 50495583 + 5'Flank INS - A A rs144819376 by1000genomes 2012-702:2012-1308-T g.chr22:50495582_50495583insA uc011ark.1 - NM_001080447 NP_001073916 ADCY5 111 broad.mit.edu 37 3 123102773 123102778 + Intron DEL CACACA - - 2012-702:2012-1308-T g.chr3:123102773_123102778delCACACA uc003egh.1 - ADCY5_uc003egg.1_Intron|ADCY5_uc003egi.1_Intron NM_183357 NP_899200 ABLIM2 84448 broad.mit.edu 37 4 8133592 8133592 + Intron DEL C - - 2012-702:2012-1308-T g.chr4:8133592delC uc003gko.2 - ABLIM2_uc003gkj.3_Intron|ABLIM2_uc003gkm.3_Intron|ABLIM2_uc003gkp.2_Intron|ABLIM2_uc003gkq.2_Intron|ABLIM2_uc003gkr.2_Intron|ABLIM2_uc003gks.3_Intron NM_001130084 NP_001123556 ABLIM2 84448 broad.mit.edu 37 4 8133596 8133597 + Intron INS - GA GA 2012-702:2012-1308-T g.chr4:8133596_8133597insGA uc003gko.2 - ABLIM2_uc003gkj.3_Intron|ABLIM2_uc003gkm.3_Intron|ABLIM2_uc003gkp.2_Intron|ABLIM2_uc003gkq.2_Intron|ABLIM2_uc003gkr.2_Intron|ABLIM2_uc003gks.3_Intron NM_001130084 NP_001123556 MAML3 55534 broad.mit.edu 37 4 140811084 140811084 + Frame_Shift_Del DEL C - - rs12506879 by1000genomes 2012-702:2012-1308-T g.chr4:140811084delC uc003ihz.1 - 2 2258 c.1506delG c.(1504-1506)CAGfs p.Q502fs MAML3_uc011chd.1_Intron NM_018717 NP_061187 MAML3 55534 broad.mit.edu 37 4 140811086 140811096 + Frame_Shift_Del DEL GCTGCTGCTGC - - rs67877726;rs72161425;rs79090010 by1000genomes 2012-702:2012-1308-T g.chr4:140811086_140811096delGCTGCTGCTGC uc003ihz.1 - 2 2246_2256 c.1494_1504delGCAGCAGCAGC c.(1492-1506)CAGCAGCAGCAGCAGfs p.Q498fs MAML3_uc011chd.1_Intron NM_018717 NP_061187 INPP4B 8821 broad.mit.edu 37 4 143768570 143768571 + 5'Flank INS - C C 2012-702:2012-1308-T g.chr4:143768570_143768571insC uc003iix.3 - INPP4B_uc003iiw.3_5'Flank NM_003866 NP_003857 CEP72 55722 broad.mit.edu 37 5 611386 611397 + 5'Flank DEL CCCCTACACACT - - 2012-702:2012-1308-T g.chr5:611386_611397delCCCCTACACACT uc003jbf.2 + CEP72_uc011clz.1_5'Flank NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 648791 648792 + Intron DEL TG - - 2012-702:2012-1308-T g.chr5:648791_648792delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649751 649752 + Intron INS - G G 2012-702:2012-1308-T g.chr5:649751_649752insG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650946 650947 + Intron DEL TG - - 2012-702:2012-1308-T g.chr5:650946_650947delTG uc003jbf.2 + NM_018140 NP_060610 SLC12A7 10723 broad.mit.edu 37 5 1072147 1072147 + Intron DEL C - - 2012-702:2012-1308-T g.chr5:1072147delC uc003jbu.2 - NM_006598 NP_006589 SLIT3 6586 broad.mit.edu 37 5 168717321 168717322 + Intron INS - G G rs144194903 by1000genomes 2012-702:2012-1308-T g.chr5:168717321_168717322insG uc003mab.2 - SLIT3_uc010jjg.2_Intron|SLIT3_uc010jji.2_Intron NM_003062 NP_003053 RNF130 55819 broad.mit.edu 37 5 179442548 179442548 + Intron DEL G - - 2012-702:2012-1308-T g.chr5:179442548delG uc003mll.1 - RNF130_uc003mlm.1_Intron|MIR340_hsa-mir-340|MI0000802_5'Flank|uc003mln.2_5'Flank NM_018434 NP_060904 SYNE1 23345 broad.mit.edu 37 6 152685873 152685873 + Intron DEL A - - 2012-702:2012-1308-T g.chr6:152685873delA uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kja.1_Intron NM_182961 NP_892006 SYNE1 23345 broad.mit.edu 37 6 152685880 152685881 + Intron DEL AG - - 2012-702:2012-1308-T g.chr6:152685880_152685881delAG uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kja.1_Intron NM_182961 NP_892006 SMOC2 64094 broad.mit.edu 37 6 169014649 169014650 + Intron DEL GG - - 2012-702:2012-1308-T g.chr6:169014649_169014650delGG uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 SMOC2 64094 broad.mit.edu 37 6 169025511 169025512 + Intron DEL AC - - 2012-702:2012-1308-T g.chr6:169025511_169025512delAC uc003qws.1 + SMOC2_uc003qwr.1_Intron|SMOC2_uc011egu.1_Intron NM_022138 NP_071421 PSMB1 5689 broad.mit.edu 37 6 170783956 170783956 + Intron DEL C - - rs112303146 2012-702:2012-1308-T g.chr6:170783956delC uc003qxq.2 - NM_002793 ADAP1 11033 broad.mit.edu 37 7 946218 946218 + Intron DEL A - - 2012-702:2012-1308-T g.chr7:946218delA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 C7orf50 84310 broad.mit.edu 37 7 1055883 1055892 + Intron DEL CAGCGCACGC - - rs74188090;rs140195333;rs74207440 by1000genomes 2012-702:2012-1308-T g.chr7:1055883_1055892delCAGCGCACGC uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 C7orf50 84310 broad.mit.edu 37 7 1056049 1056058 + Intron DEL CAGCGCACGC - - rs144970899 by1000genomes 2012-702:2012-1308-T g.chr7:1056049_1056058delCAGCGCACGC uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 C7orf50 84310 broad.mit.edu 37 7 1056479 1056495 + Intron DEL CAGCACACAGCAGCACA - - rs145295012;rs117938345;rs115962408;rs145134688;rs117736329;rs11268207 by1000genomes;by1000genomes;by1000genomes;by1000genomes;by1000genomes 2012-702:2012-1308-T g.chr7:1056479_1056495delCAGCACACAGCAGCACA uc003sju.2 - C7orf50_uc003sjs.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron NM_032350 NP_115726 MAD1L1 8379 broad.mit.edu 37 7 2116710 2116714 + Intron DEL CAGAG - - rs58483040;rs61000728 2012-702:2012-1308-T g.chr7:2116710_2116714delCAGAG uc003slh.1 - MAD1L1_uc003sle.1_Intron|MAD1L1_uc003slf.1_Intron|MAD1L1_uc003slg.1_Intron|MAD1L1_uc010ksh.1_Intron|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Intron|MAD1L1_uc010ksj.2_Intron NM_001013836 NP_001013858 MAD1L1 8379 broad.mit.edu 37 7 2116716 2116737 + Intron DEL TACGACTTGGTGAGCCCGCGGC - - rs61537406;rs72033589;rs73672088;rs149755464;rs115909172;rs3778942 by1000genomes;by1000genomes;by1000genomes 2012-702:2012-1308-T g.chr7:2116716_2116737delTACGACTTGGTGAGCCCGCGGC uc003slh.1 - MAD1L1_uc003sle.1_Intron|MAD1L1_uc003slf.1_Intron|MAD1L1_uc003slg.1_Intron|MAD1L1_uc010ksh.1_Intron|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Intron|MAD1L1_uc010ksj.2_Intron NM_001013836 NP_001013858 EGFR 1956 broad.mit.edu 37 7 55235106 55235106 + Intron DEL A - - rs13228158 2012-702:2012-1308-T g.chr7:55235106delA uc003tqk.2 + EGFR_uc003tqi.2_Intron|EGFR_uc003tqj.2_Intron|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Intron|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron NM_005228 NP_005219 EGFR 1956 broad.mit.edu 37 7 55235108 55235115 + Intron DEL GAGGGTGG - - rs13240461 2012-702:2012-1308-T g.chr7:55235108_55235115delGAGGGTGG uc003tqk.2 + EGFR_uc003tqi.2_Intron|EGFR_uc003tqj.2_Intron|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Intron|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron NM_005228 NP_005219 C7orf23 79161 broad.mit.edu 37 7 86838928 86838929 + Intron INS - AG AG 2012-702:2012-1308-T g.chr7:86838928_86838929insAG uc003uio.2 - NM_024315 NP_077291 PLXNA4 91584 broad.mit.edu 37 7 132247127 132247129 + Intron DEL CCT - - 2012-702:2012-1308-T g.chr7:132247127_132247129delCCT uc003vra.3 - PLXNA4_uc003vrc.2_Intron|PLXNA4_uc003vrb.2_Intron NM_020911 NP_065962 PTPRN2 5799 broad.mit.edu 37 7 157941323 157941324 + Intron INS - C C 2012-702:2012-1308-T g.chr7:157941323_157941324insC uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 PEBP4 157310 broad.mit.edu 37 8 22623306 22623307 + Intron INS - A A rs61315444;rs35035196 2012-702:2012-1308-T g.chr8:22623306_22623307insA uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623307 22623308 + Intron INS - TC TC rs35035196;rs56184904 2012-702:2012-1308-T g.chr8:22623307_22623308insTC uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623369 22623370 + Intron INS - TC TC rs66898805;rs62494989 2012-702:2012-1308-T g.chr8:22623369_22623370insTC uc003xcn.1 - NM_144962 NP_659399 KIAA0146 23514 broad.mit.edu 37 8 48676524 48676525 + Intron DEL AT - - 2012-702:2012-1308-T g.chr8:48676524_48676525delAT uc003xqg.1 + COL22A1 169044 broad.mit.edu 37 8 139817262 139817273 + Intron DEL GTGTGTGTGATA - - rs13256015 2012-702:2012-1308-T g.chr8:139817262_139817273delGTGTGTGTGATA uc003yvd.2 - NM_152888 NP_690848 POMT1 10585 broad.mit.edu 37 9 134391543 134391544 + Intron INS - CTTC CTTC rs146610882 by1000genomes 2012-702:2012-1308-T g.chr9:134391543_134391544insCTTC uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 TTF1 7270 broad.mit.edu 37 9 135253040 135253041 + Intron DEL GT - - rs148102891 by1000genomes 2012-702:2012-1308-T g.chr9:135253040_135253041delGT uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 TTF1 7270 broad.mit.edu 37 9 135253638 135253640 + Intron DEL GTG - - 2012-702:2012-1308-T g.chr9:135253638_135253640delGTG uc004cbl.2 - TTF1_uc011mcp.1_Intron|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 COL5A1 1289 broad.mit.edu 37 9 137602468 137602468 + Intron DEL A - - rs72508227 2012-702:2012-1308-T g.chr9:137602468delA uc004cfe.2 + NM_000093 NP_000084 TRAF2 7186 broad.mit.edu 37 9 139792180 139792180 + Intron DEL C - - 2012-702:2012-1308-T g.chr9:139792180delC uc010nbu.2 + TRAF2_uc010nbv.1_Intron|TRAF2_uc004cjv.2_Intron|TRAF2_uc011mek.1_Intron|TRAF2_uc010nbw.2_Intron NM_021138 NP_066961 EXD3 54932 broad.mit.edu 37 9 140250173 140250174 + Intron INS - G G 2012-702:2012-1308-T g.chr9:140250173_140250174insG uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron|EXD3_uc004cmq.1_Intron|EXD3_uc010ncg.1_Intron NM_017820 NP_060290 AGRN 375790 broad.mit.edu 37 1 965743 965744 + Intron DEL TG - - 2012-703:2012-1309-T g.chr1:965743_965744delTG uc001ack.1 + NM_198576 NP_940978 AGRN 375790 broad.mit.edu 37 1 965799 965800 + Intron DEL GT - - 2012-703:2012-1309-T g.chr1:965799_965800delGT uc001ack.1 + NM_198576 NP_940978 AGRN 375790 broad.mit.edu 37 1 965825 965826 + Intron DEL TG - - 2012-703:2012-1309-T g.chr1:965825_965826delTG uc001ack.1 + NM_198576 NP_940978 SCNN1D 6339 broad.mit.edu 37 1 1224006 1224007 + Intron DEL CC - - 2012-703:2012-1309-T g.chr1:1224006_1224007delCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 SCNN1D 6339 broad.mit.edu 37 1 1225288 1225289 + Intron INS - CC CC 2012-703:2012-1309-T g.chr1:1225288_1225289insCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 TAS1R3 83756 broad.mit.edu 37 1 1265354 1265366 + 5'Flank DEL CGTGTGCCATGCA - - rs150905345;rs77579059 2012-703:2012-1309-T g.chr1:1265354_1265366delCGTGTGCCATGCA uc010nyk.1 + NM_152228 NP_689414 MORN1 79906 broad.mit.edu 37 1 2280152 2280159 + Intron DEL CTGCGCGG - - 2012-703:2012-1309-T g.chr1:2280152_2280159delCTGCGCGG uc001ajb.1 - MORN1_uc009vld.2_Intron NM_024848 NP_079124 MORN1 79906 broad.mit.edu 37 1 2280297 2280298 + Intron DEL GT - - 2012-703:2012-1309-T g.chr1:2280297_2280298delGT uc001ajb.1 - MORN1_uc009vld.2_Intron NM_024848 NP_079124 PRDM16 63976 broad.mit.edu 37 1 3187225 3187225 + Intron DEL A - - 2012-703:2012-1309-T g.chr1:3187225delA uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 MEGF6 1953 broad.mit.edu 37 1 3418648 3418648 + Intron DEL C - - 2012-703:2012-1309-T g.chr1:3418648delC uc001akl.2 - MEGF6_uc001akk.2_Intron NM_001409 NP_001400 MEGF6 1953 broad.mit.edu 37 1 3418658 3418660 + Intron DEL CCT - - 2012-703:2012-1309-T g.chr1:3418658_3418660delCCT uc001akl.2 - MEGF6_uc001akk.2_Intron NM_001409 NP_001400 GUCA2A 2980 broad.mit.edu 37 1 42633114 42633115 + 5'Flank INS - TGAGG TGAGG rs150434346;rs138148984 by1000genomes 2012-703:2012-1309-T g.chr1:42633114_42633115insTGAGG uc001chd.1 - NM_033553 NP_291031 FAIM3 9214 broad.mit.edu 37 1 207097751 207097756 + 5'Flank DEL TGTGTG - - 2012-703:2012-1309-T g.chr1:207097751_207097756delTGTGTG uc001hey.2 - FAIM3_uc010prz.1_5'Flank|FAIM3_uc010psa.1_5'Flank|FAIM3_uc010psb.1_5'Flank NM_005449 NP_005440 CNST 163882 broad.mit.edu 37 1 246783793 246783794 + Intron INS - G G 2012-703:2012-1309-T g.chr1:246783793_246783794insG uc001ibp.2 + CNST_uc001ibo.3_Intron NM_152609 NP_689822 CNST 163882 broad.mit.edu 37 1 246783930 246783931 + Intron DEL AA - - rs113517024 2012-703:2012-1309-T g.chr1:246783930_246783931delAA uc001ibp.2 + CNST_uc001ibo.3_Intron NM_152609 NP_689822 ADARB2 105 broad.mit.edu 37 10 1613987 1613998 + Intron DEL GGTGAGTGGACA - - rs113971428 2012-703:2012-1309-T g.chr10:1613987_1613998delGGTGAGTGGACA uc009xhq.2 - NM_018702 NP_061172 ANXA8 653145 broad.mit.edu 37 10 47058971 47058972 + Intron INS - CA CA rs144230274 2012-703:2012-1309-T g.chr10:47058971_47058972insCA uc001jed.3 - CCDC6 8030 broad.mit.edu 37 10 61642116 61642117 + Intron DEL CG - - 2012-703:2012-1309-T g.chr10:61642116_61642117delCG uc001jks.3 - NM_005436 NP_005427 HPSE2 60495 broad.mit.edu 37 10 100963623 100963624 + Intron INS - CCCGCTCCGCC CCCGCTCCGCC rs78743483;rs4919283 by1000genomes 2012-703:2012-1309-T g.chr10:100963623_100963624insCCCGCTCCGCC uc001kpn.1 - HPSE2_uc009xwc.1_Intron|HPSE2_uc001kpo.1_Intron|HPSE2_uc009xwd.1_Intron NM_021828 NP_068600 HPSE2 60495 broad.mit.edu 37 10 100963624 100963625 + Intron INS - GGC GGC rs4919283 by1000genomes 2012-703:2012-1309-T g.chr10:100963624_100963625insGGC uc001kpn.1 - HPSE2_uc009xwc.1_Intron|HPSE2_uc001kpo.1_Intron|HPSE2_uc009xwd.1_Intron NM_021828 NP_068600 GPR123 84435 broad.mit.edu 37 10 134893077 134893080 + Intron DEL GAGA - - 2012-703:2012-1309-T g.chr10:134893077_134893080delGAGA uc001llw.2 + MAML2 84441 broad.mit.edu 37 11 95735853 95735855 + Intron DEL GGG - - rs71460637 by1000genomes 2012-703:2012-1309-T g.chr11:95735853_95735855delGGG uc001pfw.1 - NM_032427 NP_115803 KIRREL3 84623 broad.mit.edu 37 11 126733358 126733359 + Intron DEL GT - - rs72096305 2012-703:2012-1309-T g.chr11:126733358_126733359delGT uc001qea.2 - KIRREL3_uc001qeb.2_Intron|KIRREL3_uc001qec.1_Intron|KIRREL3_uc001qed.3_Intron NM_032531 NP_115920 KIRREL3 84623 broad.mit.edu 37 11 126733390 126733393 + Intron DEL GTGA - - rs72371767 2012-703:2012-1309-T g.chr11:126733390_126733393delGTGA uc001qea.2 - KIRREL3_uc001qeb.2_Intron|KIRREL3_uc001qec.1_Intron|KIRREL3_uc001qed.3_Intron NM_032531 NP_115920 TSPAN9 10867 broad.mit.edu 37 12 3378085 3378086 + Intron INS - CC CC 2012-703:2012-1309-T g.chr12:3378085_3378086insCC uc001qlp.2 + NM_006675 NP_006666 TSPAN9 10867 broad.mit.edu 37 12 3378088 3378089 + Intron INS - CA CA 2012-703:2012-1309-T g.chr12:3378088_3378089insCA uc001qlp.2 + NM_006675 NP_006666 NCOR2 9612 broad.mit.edu 37 12 124952583 124952584 + Intron INS - TCC TCC rs147189850 by1000genomes 2012-703:2012-1309-T g.chr12:124952583_124952584insTCC uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 GPR133 283383 broad.mit.edu 37 12 131530780 131530780 + Intron DEL C - - rs72149353 2012-703:2012-1309-T g.chr12:131530780delC uc001uit.3 + GPR133_uc010tbm.1_Intron NM_198827 NP_942122 GPR133 283383 broad.mit.edu 37 12 131578501 131578502 + Intron INS - C C 2012-703:2012-1309-T g.chr12:131578501_131578502insC uc001uit.3 + GPR133_uc010tbm.1_Intron|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Intron NM_198827 NP_942122 GPR133 283383 broad.mit.edu 37 12 131578555 131578556 + Intron INS - C C 2012-703:2012-1309-T g.chr12:131578555_131578556insC uc001uit.3 + GPR133_uc010tbm.1_Intron|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Intron NM_198827 NP_942122 CHFR 55743 broad.mit.edu 37 12 133443164 133443181 + Intron DEL GTTACAACACACCAGAAA - - rs73157075 by1000genomes 2012-703:2012-1309-T g.chr12:133443164_133443181delGTTACAACACACCAGAAA uc001ulf.2 - CHFR_uc001ulc.1_Intron|CHFR_uc001ule.2_Intron|CHFR_uc010tbs.1_Intron|CHFR_uc001uld.2_Intron|CHFR_uc010tbt.1_Intron NM_001161344 NP_001154816 ZDHHC20 253832 broad.mit.edu 37 13 21951498 21951499 + Intron DEL CT - - 2012-703:2012-1309-T g.chr13:21951498_21951499delCT uc001uob.2 - ZDHHC20_uc001uod.2_Intron|ZDHHC20_uc001uoc.2_Intron|ZDHHC20_uc001uoe.2_Intron|ZDHHC20_uc010tcs.1_Intron|uc001uoa.1_5'Flank NM_153251 NP_694983 ZDHHC20 253832 broad.mit.edu 37 13 21951540 21951541 + Intron DEL CT - - rs5802108 2012-703:2012-1309-T g.chr13:21951540_21951541delCT uc001uob.2 - ZDHHC20_uc001uod.2_Intron|ZDHHC20_uc001uoc.2_Intron|ZDHHC20_uc001uoe.2_Intron|ZDHHC20_uc010tcs.1_Intron|uc001uoa.1_5'Flank NM_153251 NP_694983 COL4A2 1284 broad.mit.edu 37 13 111008187 111008187 + Intron DEL T - - rs77173843 2012-703:2012-1309-T g.chr13:111008187delT uc001vqx.2 + NM_001846 NP_001837 COL4A2 1284 broad.mit.edu 37 13 111133550 111133550 + Intron DEL T - - 2012-703:2012-1309-T g.chr13:111133550delT uc001vqx.2 + NM_001846 NP_001837 COL4A2 1284 broad.mit.edu 37 13 111133700 111133700 + Intron DEL T - - 2012-703:2012-1309-T g.chr13:111133700delT uc001vqx.2 + NM_001846 NP_001837 MCF2L 23263 broad.mit.edu 37 13 113713273 113713283 + Intron DEL TGTTTCAGCGC - - rs111740656;rs143729355;rs28410959;rs28490502;rs141372551 by1000genomes 2012-703:2012-1309-T g.chr13:113713273_113713283delTGTTTCAGCGC uc001vsu.2 + MCF2L_uc001vsq.2_Intron|MCF2L_uc010tjr.1_Intron|MCF2L_uc001vsr.2_Intron|MCF2L_uc001vss.3_Intron|MCF2L_uc010tjs.1_Intron|MCF2L_uc001vst.1_Intron NM_001112732 NP_001106203 F7 2155 broad.mit.edu 37 13 113762882 113762883 + Intron INS - T T rs76788797 2012-703:2012-1309-T g.chr13:113762882_113762883insT uc001vsv.2 + F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 GRTP1 79774 broad.mit.edu 37 13 113986628 113986629 + Intron DEL CA - - 2012-703:2012-1309-T g.chr13:113986628_113986629delCA uc001vtn.2 - GRTP1_uc010tkb.1_Intron|GRTP1_uc010tkc.1_Intron NM_024719 NP_078995 TFDP1 7027 broad.mit.edu 37 13 114279379 114279380 + Intron DEL TC - - 2012-703:2012-1309-T g.chr13:114279379_114279380delTC uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 TFDP1 7027 broad.mit.edu 37 13 114279400 114279401 + Intron DEL TC - - 2012-703:2012-1309-T g.chr13:114279400_114279401delTC uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 TFDP1 7027 broad.mit.edu 37 13 114279887 114279888 + Intron INS - T T 2012-703:2012-1309-T g.chr13:114279887_114279888insT uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 TFDP1 7027 broad.mit.edu 37 13 114279896 114279896 + Intron DEL T - - 2012-703:2012-1309-T g.chr13:114279896delT uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 TFDP1 7027 broad.mit.edu 37 13 114279899 114279899 + Intron DEL C - - 2012-703:2012-1309-T g.chr13:114279899delC uc001vtw.2 + TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc010agx.2_Intron NM_007111 NP_009042 GRK1 6011 broad.mit.edu 37 13 114431029 114431031 + Intron DEL AGT - - 2012-703:2012-1309-T g.chr13:114431029_114431031delAGT uc010tkf.1 + NM_002929 NP_002920 TRAF3 7187 broad.mit.edu 37 14 103296825 103296826 + Intron INS - TTG TTG rs146102070;rs149232185 by1000genomes 2012-703:2012-1309-T g.chr14:103296825_103296826insTTG uc001ymc.1 + TRAF3_uc001yme.1_Intron|TRAF3_uc001ymd.1_Intron|TRAF3_uc010txy.1_Intron NM_145725 NP_663777 KIF26A 26153 broad.mit.edu 37 14 104631874 104631875 + Intron INS - TC TC rs141671546 by1000genomes 2012-703:2012-1309-T g.chr14:104631874_104631875insTC uc001yos.3 + NM_015656 NP_056471 INF2 64423 broad.mit.edu 37 14 105187397 105187404 + Intron DEL CGTAGTCT - - rs72130729;rs66700474 2012-703:2012-1309-T g.chr14:105187397_105187404delCGTAGTCT uc010tyi.1 + NM_022489 NP_071934 FRMD5 84978 broad.mit.edu 37 15 44282197 44282197 + Intron DEL T - - 2012-703:2012-1309-T g.chr15:44282197delT uc001ztl.2 - FRMD5_uc001ztk.1_Intron|FRMD5_uc001ztm.2_Intron|FRMD5_uc001ztn.2_Intron NM_032892 NP_116281 ETFA 2108 broad.mit.edu 37 15 76552276 76552276 + Intron DEL A - - 2012-703:2012-1309-T g.chr15:76552276delA uc002bbt.2 - ETFA_uc010bkq.1_Intron|ETFA_uc002bbu.1_Intron NM_000126 NP_000117 ETFA 2108 broad.mit.edu 37 15 76552278 76552284 + Intron DEL AGGCTCA - - rs150112182 by1000genomes 2012-703:2012-1309-T g.chr15:76552278_76552284delAGGCTCA uc002bbt.2 - ETFA_uc010bkq.1_Intron|ETFA_uc002bbu.1_Intron NM_000126 NP_000117 BAIAP3 8938 broad.mit.edu 37 16 1389902 1389903 + Intron INS - GG GG 2012-703:2012-1309-T g.chr16:1389902_1389903insGG uc002clk.1 + BAIAP3_uc002clj.2_Intron|BAIAP3_uc010uuz.1_Intron|BAIAP3_uc010uva.1_Intron|BAIAP3_uc010uvb.1_Intron|BAIAP3_uc010uvc.1_Intron NM_003933 NP_003924 CDH15 1013 broad.mit.edu 37 16 89255670 89255671 + Intron INS - AG AG 2012-703:2012-1309-T g.chr16:89255670_89255671insAG uc002fmt.2 + NM_004933 NP_004924 ABR 29 broad.mit.edu 37 17 1021795 1021795 + Intron DEL T - - 2012-703:2012-1309-T g.chr17:1021795delT uc002fsd.2 - ABR_uc002fse.2_Intron|ABR_uc010cjq.1_Intron NM_021962 NP_068781 TUSC5 286753 broad.mit.edu 37 17 1189854 1189854 + Intron DEL G - - 2012-703:2012-1309-T g.chr17:1189854delG uc002fsi.1 + NM_172367 NP_758955 ITGAE 3682 broad.mit.edu 37 17 3699403 3699404 + Intron INS - TGTG TGTG rs36045415;rs146559224 2012-703:2012-1309-T g.chr17:3699403_3699404insTGTG uc002fwo.3 - NM_002208 NP_002199 ITGAE 3682 broad.mit.edu 37 17 3699414 3699415 + Intron INS - GT GT rs80153256 2012-703:2012-1309-T g.chr17:3699414_3699415insGT uc002fwo.3 - NM_002208 NP_002199 KAT2A 2648 broad.mit.edu 37 17 40267460 40267461 + Intron INS - C C 2012-703:2012-1309-T g.chr17:40267460_40267461insC uc002hyx.2 - DHX58_uc002hyw.3_5'Flank|DHX58_uc010wgf.1_5'Flank NM_021078 NP_066564 RPTOR 57521 broad.mit.edu 37 17 78608513 78608514 + Intron INS - GC GC 2012-703:2012-1309-T g.chr17:78608513_78608514insGC uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 RPTOR 57521 broad.mit.edu 37 17 78814415 78814417 + Intron DEL ACA - - 2012-703:2012-1309-T g.chr17:78814415_78814417delACA uc002jyt.1 + RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 RPTOR 57521 broad.mit.edu 37 17 78815477 78815480 + Intron DEL CACT - - rs67971586;rs74211476 2012-703:2012-1309-T g.chr17:78815477_78815480delCACT uc002jyt.1 + RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 RPTOR 57521 broad.mit.edu 37 17 78867272 78867285 + Intron DEL TGTACGCGCCAGGG - - rs35094292;rs4315400;rs4555209 2012-703:2012-1309-T g.chr17:78867272_78867285delTGTACGCGCCAGGG uc002jyt.1 + RPTOR_uc010wug.1_Intron NM_020761 NP_065812 TBCD 6904 broad.mit.edu 37 17 80807802 80807803 + Intron INS - GCTC GCTC 2012-703:2012-1309-T g.chr17:80807802_80807803insGCTC uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 TBCD 6904 broad.mit.edu 37 17 80807804 80807805 + Intron INS - C C 2012-703:2012-1309-T g.chr17:80807804_80807805insC uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 TBCD 6904 broad.mit.edu 37 17 80807833 80807834 + Intron INS - CTCTT CTCTT 2012-703:2012-1309-T g.chr17:80807833_80807834insCTCTT uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 GALR1 2587 broad.mit.edu 37 18 74970969 74970974 + Intron DEL TGGTGT - - 2012-703:2012-1309-T g.chr18:74970969_74970974delTGGTGT uc002lms.3 + NM_001480 NP_001471 ZNF554 115196 broad.mit.edu 37 19 2818004 2818005 + 5'Flank INS - C C 2012-703:2012-1309-T g.chr19:2818004_2818005insC uc002lwm.2 + ZNF554_uc002lwl.2_5'Flank NM_001102651 NP_001096121 KDM4B 23030 broad.mit.edu 37 19 5019306 5019317 + Intron DEL GGTGTTGGTGTG - - 2012-703:2012-1309-T g.chr19:5019306_5019317delGGTGTTGGTGTG uc002mbq.3 + KDM4B_uc010xil.1_Intron|KDM4B_uc010xim.1_Intron NM_015015 NP_055830 NOTCH3 4854 broad.mit.edu 37 19 15273583 15273584 + Intron DEL TT - - rs5827278;rs57540484 2012-703:2012-1309-T g.chr19:15273583_15273584delTT uc002nan.2 - NM_000435 NP_000426 NOTCH3 4854 broad.mit.edu 37 19 15273600 15273605 + Intron DEL GTGTGC - - rs4019573;rs757473 by1000genomes 2012-703:2012-1309-T g.chr19:15273600_15273605delGTGTGC uc002nan.2 - NM_000435 NP_000426 ZNF790 388536 broad.mit.edu 37 19 37329018 37329031 + Intron DEL ACACACACACACAT - - rs56260506;rs72210281 2012-703:2012-1309-T g.chr19:37329018_37329031delACACACACACACAT uc002oew.2 - NM_206894 NP_996777 ZNF547 284306 broad.mit.edu 37 19 58010850 58010851 + Intron INS - CAT CAT 2012-703:2012-1309-T g.chr19:58010850_58010851insCAT uc002qpm.3 + ZNF773_uc002qox.2_5'Flank|ZNF773_uc002qoy.2_5'Flank|ZNF773_uc002qoz.2_5'Flank SH3YL1 26751 broad.mit.edu 37 2 236216 236218 + Intron DEL GCA - - 2012-703:2012-1309-T g.chr2:236216_236218delGCA uc002qvx.2 - SH3YL1_uc002qvy.2_Intron|SH3YL1_uc002qvz.2_Intron|SH3YL1_uc002qwa.2_Intron|SH3YL1_uc010ewe.2_Intron|SH3YL1_uc002qvu.2_Intron|SH3YL1_uc002qvv.2_Intron|SH3YL1_uc002qvw.2_Intron NM_015677 NP_056492 SNTG2 54221 broad.mit.edu 37 2 1112724 1112739 + Intron DEL CTGGTGTGTGGGTGCT - - rs76867340;rs73154609 2012-703:2012-1309-T g.chr2:1112724_1112739delCTGGTGTGTGGGTGCT uc002qwq.2 + SNTG2_uc002qwp.2_Intron|SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 SNTG2 54221 broad.mit.edu 37 2 1282741 1282741 + Intron DEL A - - 2012-703:2012-1309-T g.chr2:1282741delA uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 SNTG2 54221 broad.mit.edu 37 2 1282854 1282855 + Intron DEL CT - - rs71902048 2012-703:2012-1309-T g.chr2:1282854_1282855delCT uc002qwq.2 + SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 PXDN 7837 broad.mit.edu 37 2 1715212 1715213 + Intron INS - CT CT 2012-703:2012-1309-T g.chr2:1715212_1715213insCT uc002qxa.2 - PXDN_uc002qxb.1_Intron|PXDN_uc002qxc.1_Intron NM_012293 NP_036425 DYSF 8291 broad.mit.edu 37 2 71799364 71799385 + Intron DEL CACAGATCACACCTAGCACACC - - rs70959302;rs72078337;rs112184497;rs116794045;rs145802178 2012-703:2012-1309-T g.chr2:71799364_71799385delCACAGATCACACCTAGCACACC uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron NM_003494 NP_003485 FBLN7 129804 broad.mit.edu 37 2 112918282 112918283 + Intron DEL CA - - rs5833435;rs3080966 2012-703:2012-1309-T g.chr2:112918282_112918283delCA uc002tho.1 + FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Intron|FBLN7_uc010fkj.1_Intron NM_153214 NP_694946 GAD1 2571 broad.mit.edu 37 2 171685163 171685163 + Intron DEL T - - 2012-703:2012-1309-T g.chr2:171685163delT uc002ugi.2 + GAD1_uc002ugh.2_Intron NM_000817 NP_000808 AGAP1 116987 broad.mit.edu 37 2 236711446 236711447 + Intron INS - TGA TGA 2012-703:2012-1309-T g.chr2:236711446_236711447insTGA uc002vvs.2 + AGAP1_uc002vvt.2_Intron NM_001037131 NP_001032208 AGAP1 116987 broad.mit.edu 37 2 236711459 236711460 + Intron INS - GGA GGA rs146464470;rs77575751 2012-703:2012-1309-T g.chr2:236711459_236711460insGGA uc002vvs.2 + AGAP1_uc002vvt.2_Intron NM_001037131 NP_001032208 KIF1A 547 broad.mit.edu 37 2 241752051 241752052 + Intron INS - A A 2012-703:2012-1309-T g.chr2:241752051_241752052insA uc002vzy.2 - KIF1A_uc010fzk.2_Intron|KIF1A_uc002vzz.1_Intron NM_004321 NP_004312 C20orf26 26074 broad.mit.edu 37 20 20335590 20335591 + Intron INS - AG AG rs66801568 2012-703:2012-1309-T g.chr20:20335590_20335591insAG uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 C20orf26 26074 broad.mit.edu 37 20 20335596 20335597 + Intron INS - TC TC rs72227181 2012-703:2012-1309-T g.chr20:20335596_20335597insTC uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 C20orf26 26074 broad.mit.edu 37 20 20337251 20337251 + Intron DEL C - - 2012-703:2012-1309-T g.chr20:20337251delC uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 C20orf26 26074 broad.mit.edu 37 20 20337351 20337352 + Intron INS - GA GA rs68079262 2012-703:2012-1309-T g.chr20:20337351_20337352insGA uc002wru.2 + C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 GNAS 2778 broad.mit.edu 37 20 57474789 57474790 + Intron DEL CA - - 2012-703:2012-1309-T g.chr20:57474789_57474790delCA uc002xzw.2 + GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_Intron|GNAS_uc002xzx.2_Intron|GNAS_uc010gjr.2_Intron|GNAS_uc002xzy.2_Intron|GNAS_uc002yaa.2_Intron|GNAS_uc010zzt.1_Intron|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Intron NM_080425 NP_536350 ZBTB46 140685 broad.mit.edu 37 20 62447425 62447434 + Intron DEL GTGGGCACAG - - 2012-703:2012-1309-T g.chr20:62447425_62447434delGTGGGCACAG uc002ygu.2 - uc002ygw.2_Intron NM_025224 C21orf56 84221 broad.mit.edu 37 21 47590789 47590789 + Intron DEL T - - 2012-703:2012-1309-T g.chr21:47590789delT uc011afu.1 - C21orf56_uc002zii.2_Intron NM_001142854 NP_001136326 MPPED1 758 broad.mit.edu 37 22 43828603 43828604 + Intron DEL GA - - 2012-703:2012-1309-T g.chr22:43828603_43828604delGA uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 IFT122 55764 broad.mit.edu 37 3 129235130 129235131 + Intron DEL CA - - 2012-703:2012-1309-T g.chr3:129235130_129235131delCA uc003emm.2 + IFT122_uc003eml.2_Intron|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Intron|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Intron NM_052989 NP_443715 GAK 2580 broad.mit.edu 37 4 850187 850199 + Intron DEL CACCACAGCTGCT - - rs6148269 2012-703:2012-1309-T g.chr4:850187_850199delCACCACAGCTGCT uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibi.2_Intron|GAK_uc010ibj.2_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 GAK 2580 broad.mit.edu 37 4 850340 850342 + Intron DEL CAC - - 2012-703:2012-1309-T g.chr4:850340_850342delCAC uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibi.2_Intron|GAK_uc010ibj.2_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 RNF212 285498 broad.mit.edu 37 4 1072788 1072798 + Intron DEL AGGACCAACAC - - rs34558698;rs79620907 2012-703:2012-1309-T g.chr4:1072788_1072798delAGGACCAACAC uc003gcj.2 - RNF212_uc003gch.2_Intron|RNF212_uc003gci.2_Intron|RNF212_uc010ibp.2_Intron|RNF212_uc010ibq.2_Intron NM_001131034 NP_001124506 HTT 3064 broad.mit.edu 37 4 3181332 3181333 + Intron DEL GT - - 2012-703:2012-1309-T g.chr4:3181332_3181333delGT uc011bvq.1 + NM_002111 NP_002102 CRMP1 1400 broad.mit.edu 37 4 5858673 5858675 + Intron DEL CAT - - 2012-703:2012-1309-T g.chr4:5858673_5858675delCAT uc003gip.2 - CRMP1_uc003gin.1_Intron|CRMP1_uc003giq.2_Intron|CRMP1_uc003gir.2_Intron|CRMP1_uc003gis.2_Intron NM_001313 NP_001304 DSPP 1834 broad.mit.edu 37 4 88537073 88537081 + In_Frame_Del DEL AGCAGTGAC - - 2012-703:2012-1309-T g.chr4:88537073_88537081delAGCAGTGAC uc003hqu.2 + 5 3379_3387 c.3259_3267delAGCAGTGAC c.(3259-3267)AGCAGTGACdel p.SSD1087del NM_014208 NP_055023 DSPP 1834 broad.mit.edu 37 4 88537298 88537306 + In_Frame_Del DEL AGCAGCGAT - - rs150385148;rs71902617;rs138015586 by1000genomes;by1000genomes 2012-703:2012-1309-T g.chr4:88537298_88537306delAGCAGCGAT uc003hqu.2 + 5 3604_3612 c.3484_3492delAGCAGCGAT c.(3484-3492)AGCAGCGATdel p.SSD1174del NM_014208 NP_055023 DSPP 1834 broad.mit.edu 37 4 88537448 88537456 + In_Frame_Del DEL GACAGCAGC - - rs142440372;rs111240022 by1000genomes;by1000genomes 2012-703:2012-1309-T g.chr4:88537448_88537456delGACAGCAGC uc003hqu.2 + 5 3754_3762 c.3634_3642delGACAGCAGC c.(3634-3642)GACAGCAGCdel p.DSS1227del NM_014208 NP_055023 MTNR1A 4543 broad.mit.edu 37 4 187462024 187462025 + Intron INS - CTGA CTGA 2012-703:2012-1309-T g.chr4:187462024_187462025insCTGA uc003izd.1 - NM_005958 NP_005949 CEP72 55722 broad.mit.edu 37 5 648999 648999 + Intron DEL T - - 2012-703:2012-1309-T g.chr5:648999delT uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649570 649571 + Intron DEL TG - - 2012-703:2012-1309-T g.chr5:649570_649571delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 649583 649584 + Intron DEL TG - - 2012-703:2012-1309-T g.chr5:649583_649584delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650815 650815 + Intron DEL A - - 2012-703:2012-1309-T g.chr5:650815delA uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650839 650840 + Intron DEL TG - - 2012-703:2012-1309-T g.chr5:650839_650840delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650933 650934 + Intron DEL TG - - 2012-703:2012-1309-T g.chr5:650933_650934delTG uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 650950 650950 + Intron DEL A - - 2012-703:2012-1309-T g.chr5:650950delA uc003jbf.2 + NM_018140 NP_060610 CEP72 55722 broad.mit.edu 37 5 651025 651025 + Intron DEL T - - 2012-703:2012-1309-T g.chr5:651025delT uc003jbf.2 + NM_018140 NP_060610 NKD2 85409 broad.mit.edu 37 5 1026064 1026065 + Intron INS - A A 2012-703:2012-1309-T g.chr5:1026064_1026065insA uc003jbt.1 + NKD2_uc010itf.1_Intron NM_033120 NP_149111 SLC12A7 10723 broad.mit.edu 37 5 1071333 1071334 + Intron INS - G G 2012-703:2012-1309-T g.chr5:1071333_1071334insG uc003jbu.2 - NM_006598 NP_006589 RASGRF2 5924 broad.mit.edu 37 5 80465727 80465735 + Intron DEL CACCTGCGT - - rs141478204;rs62364962 by1000genomes 2012-703:2012-1309-T g.chr5:80465727_80465735delCACCTGCGT uc003kha.1 + RASGRF2_uc011ctn.1_Intron NM_006909 NP_008840 FAT2 2196 broad.mit.edu 37 5 150923746 150923747 + Frame_Shift_Ins INS - T T 2012-703:2012-1309-T g.chr5:150923746_150923747insT uc003lue.3 - 9 6954_6955 c.6941_6942insA c.(6940-6942)GATfs p.D2314fs GM2A_uc011dcs.1_Intron NM_001447 NP_001438 SYTL3 94120 broad.mit.edu 37 6 159122182 159122183 + Intron INS - T T rs73797085 by1000genomes 2012-703:2012-1309-T g.chr6:159122182_159122183insT uc003qrp.2 + SYTL3_uc011efp.1_Intron|SYTL3_uc003qro.2_Intron|SYTL3_uc003qrq.2_Intron|SYTL3_uc003qrr.2_Intron|SYTL3_uc003qrs.2_Intron|SYTL3_uc011efq.1_Intron NM_001009991 NP_001009991 PARK2 5071 broad.mit.edu 37 6 162364900 162364906 + Intron DEL GAGGAAG - - 2012-703:2012-1309-T g.chr6:162364900_162364906delGAGGAAG uc003qtx.3 - PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Intron|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Intron NM_004562 NP_004553 PARK2 5071 broad.mit.edu 37 6 162364908 162364913 + Intron DEL AGCCTG - - rs115263960 by1000genomes 2012-703:2012-1309-T g.chr6:162364908_162364913delAGCCTG uc003qtx.3 - PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Intron|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Intron NM_004562 NP_004553 RPS6KA2 6196 broad.mit.edu 37 6 166863889 166863900 + Intron DEL CACCACAGGGAC - - rs62438443 2012-703:2012-1309-T g.chr6:166863889_166863900delCACCACAGGGAC uc003qvb.1 - RPS6KA2_uc011ego.1_Intron|RPS6KA2_uc010kkl.1_Intron|RPS6KA2_uc003qvc.1_Intron|RPS6KA2_uc003qvd.1_Intron NM_021135 NP_066958 SMOC2 64094 broad.mit.edu 37 6 169014649 169014650 + Intron DEL GG - - 2012-703:2012-1309-T g.chr6:169014649_169014650delGG uc003qws.1 + SMOC2_uc003qwr.1_Intron NM_022138 NP_071421 TBP 6908 broad.mit.edu 37 6 170871047 170871055 + In_Frame_Del DEL CAGCAGCAG - - rs56241301;rs112083427;rs71554912 2012-703:2012-1309-T g.chr6:170871047_170871055delCAGCAGCAG uc003qxt.2 + 3 455_463 c.223_231delCAGCAGCAG c.(223-231)CAGCAGCAGdel p.QQQ93del TBP_uc003qxu.2_In_Frame_Del_p.QQQ93del|TBP_uc011ehf.1_In_Frame_Del_p.QQQ73del|TBP_uc011ehg.1_In_Frame_Del_p.QQQ93del NM_003194 NP_003185 GET4 51608 broad.mit.edu 37 7 933008 933009 + Intron INS - GCG GCG rs59856326 2012-703:2012-1309-T g.chr7:933008_933009insGCG uc003sjl.1 + GET4_uc003sjj.1_Intron NM_015949 NP_057033 ADAP1 11033 broad.mit.edu 37 7 945654 945655 + Intron INS - A A 2012-703:2012-1309-T g.chr7:945654_945655insA uc003sjo.3 - ADAP1_uc003sjm.3_5'Flank|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron NM_006869 NP_006860 PTPRN2 5799 broad.mit.edu 37 7 158316662 158316663 + Intron INS - TCT TCT 2012-703:2012-1309-T g.chr7:158316662_158316663insTCT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron NM_002847 NP_002838 NCAPG2 54892 broad.mit.edu 37 7 158460763 158460764 + Intron INS - C C 2012-703:2012-1309-T g.chr7:158460763_158460764insC uc003wnv.1 - NCAPG2_uc010lqu.1_Intron|NCAPG2_uc003wnw.1_Intron|NCAPG2_uc003wnx.1_Intron|NCAPG2_uc011kwe.1_Intron|NCAPG2_uc011kwc.1_5'Flank NM_017760 NP_060230 PEBP4 157310 broad.mit.edu 37 8 22623337 22623338 + Intron INS - A A rs71834123 2012-703:2012-1309-T g.chr8:22623337_22623338insA uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623338 22623339 + Intron INS - TC TC rs71834123 2012-703:2012-1309-T g.chr8:22623338_22623339insTC uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623369 22623370 + Intron INS - TC TC rs66898805;rs62494989 2012-703:2012-1309-T g.chr8:22623369_22623370insTC uc003xcn.1 - NM_144962 NP_659399 TOP1MT 116447 broad.mit.edu 37 8 144404080 144404081 + Intron DEL AG - - 2012-703:2012-1309-T g.chr8:144404080_144404081delAG uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 TOP1MT 116447 broad.mit.edu 37 8 144404095 144404096 + Intron DEL AT - - 2012-703:2012-1309-T g.chr8:144404095_144404096delAT uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 ZNF16 7564 broad.mit.edu 37 8 146172207 146172208 + Intron DEL CT - - 2012-703:2012-1309-T g.chr8:146172207_146172208delCT uc003zet.2 - ZNF16_uc003zeu.2_Intron NM_001029976 NP_001025147 ZNF16 7564 broad.mit.edu 37 8 146172598 146172598 + Intron DEL T - - rs72325964 2012-703:2012-1309-T g.chr8:146172598delT uc003zet.2 - ZNF16_uc003zeu.2_Intron NM_001029976 NP_001025147 POMT1 10585 broad.mit.edu 37 9 134391445 134391446 + Intron DEL TA - - 2012-703:2012-1309-T g.chr9:134391445_134391446delTA uc004cav.2 + POMT1_uc004cax.2_Intron|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Intron|POMT1_uc004caw.2_Intron|POMT1_uc011mck.1_Intron|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Intron|POMT1_uc011mcn.1_Intron NM_007171 NP_009102 EXD3 54932 broad.mit.edu 37 9 140223916 140223916 + Intron DEL A - - 2012-703:2012-1309-T g.chr9:140223916delA uc004cmp.2 - C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Intron NM_017820 NP_060290 TCEA3 6920 broad.mit.edu 37 1 23719103 23719104 + Intron DEL AC - - 2012-705:2012-1310-T g.chr1:23719103_23719104delAC uc001bgx.1 - TCEA3_uc009vqm.1_Intron NM_003196 NP_003187 TCEA3 6920 broad.mit.edu 37 1 23719158 23719159 + Intron DEL CC - - 2012-705:2012-1310-T g.chr1:23719158_23719159delCC uc001bgx.1 - TCEA3_uc009vqm.1_Intron NM_003196 NP_003187 PTPRF 5792 broad.mit.edu 37 1 44025845 44025846 + Intron INS - TG TG rs142071261;rs72300383 by1000genomes 2012-705:2012-1310-T g.chr1:44025845_44025846insTG uc001cjr.2 + PTPRF_uc001cjq.3_Intron|PTPRF_uc001cjs.2_Intron|PTPRF_uc001cjt.3_Intron NM_002840 NP_002831 CD247 919 broad.mit.edu 37 1 167404233 167404233 + Intron DEL T - - 2012-705:2012-1310-T g.chr1:167404233delT uc001gei.3 - CD247_uc001gej.3_Intron NM_198053 NP_932170 LGR6 59352 broad.mit.edu 37 1 202174496 202174497 + Intron DEL AA - - rs141417100 by1000genomes 2012-705:2012-1310-T g.chr1:202174496_202174497delAA uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 LGR6 59352 broad.mit.edu 37 1 202174523 202174538 + Intron DEL CAAACACACACACCTC - - rs150413294;rs138325910 by1000genomes;by1000genomes 2012-705:2012-1310-T g.chr1:202174523_202174538delCAAACACACACACCTC uc001gxu.2 + LGR6_uc001gxv.2_Intron|LGR6_uc009xab.2_Intron NM_001017403 NP_001017403 RNH1 6050 broad.mit.edu 37 11 497211 497212 + Intron INS - CACA CACA rs146656956 by1000genomes 2012-705:2012-1310-T g.chr11:497211_497212insCACA uc001lpk.1 - RNH1_uc001lpl.1_Intron|RNH1_uc001lpm.1_Intron|RNH1_uc001lpn.1_Intron|RNH1_uc001lpo.1_Intron|RNH1_uc009ybw.1_Intron|RNH1_uc001lpp.1_Intron|RNH1_uc001lpt.1_Intron|RNH1_uc001lpq.1_Intron|RNH1_uc001lpr.1_Intron|RNH1_uc001lps.1_Intron NM_203389 NP_976323 TP53I11 9537 broad.mit.edu 37 11 44963981 44963984 + Intron DEL ACAC - - rs111417341 2012-705:2012-1310-T g.chr11:44963981_44963984delACAC uc001myi.2 - TP53I11_uc001myf.1_Intron|TP53I11_uc001myj.2_Intron|TP53I11_uc001myk.2_Intron|TP53I11_uc001myl.2_Intron|TP53I11_uc001mym.2_Intron NM_006034 NP_006025 MACROD1 28992 broad.mit.edu 37 11 63777763 63777764 + Intron INS - GG GG 2012-705:2012-1310-T g.chr11:63777763_63777764insGG uc001nyh.2 - NM_014067 NP_054786 ETV6 2120 broad.mit.edu 37 12 12201010 12201013 + Intron DEL TGTG - - 2012-705:2012-1310-T g.chr12:12201010_12201013delTGTG uc001raa.1 + uc001rab.1_5'Flank NM_001987 NP_001978 ST8SIA1 6489 broad.mit.edu 37 12 22473880 22473881 + Intron DEL AA - - rs72131462;rs55671980 2012-705:2012-1310-T g.chr12:22473880_22473881delAA uc001rfo.3 - ST8SIA1_uc009zix.2_Intron NM_003034 NP_003025 ST8SIA1 6489 broad.mit.edu 37 12 22473949 22473950 + Intron DEL AA - - 2012-705:2012-1310-T g.chr12:22473949_22473950delAA uc001rfo.3 - ST8SIA1_uc009zix.2_Intron NM_003034 NP_003025 TMEM120B 144404 broad.mit.edu 37 12 122185990 122185991 + Intron DEL CA - - rs72024648;rs67603870 2012-705:2012-1310-T g.chr12:122185990_122185991delCA uc001ubc.3 + TMEM120B_uc009zxh.2_Intron NM_001080825 NP_001074294 NCOR2 9612 broad.mit.edu 37 12 124953534 124953534 + Intron DEL C - - 2012-705:2012-1310-T g.chr12:124953534delC uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 RIMBP2 23504 broad.mit.edu 37 12 131068901 131068906 + Intron DEL CACCAT - - 2012-705:2012-1310-T g.chr12:131068901_131068906delCACCAT uc001uim.2 - GPR133 283383 broad.mit.edu 37 12 131530780 131530780 + Intron DEL C - - rs72149353 2012-705:2012-1310-T g.chr12:131530780delC uc001uit.3 + GPR133_uc010tbm.1_Intron NM_198827 NP_942122 MCF2L 23263 broad.mit.edu 37 13 113713273 113713283 + Intron DEL TGTTTCAGCGC - - rs111740656;rs143729355;rs28410959;rs28490502;rs141372551 by1000genomes 2012-705:2012-1310-T g.chr13:113713273_113713283delTGTTTCAGCGC uc001vsu.2 + MCF2L_uc001vsq.2_Intron|MCF2L_uc010tjr.1_Intron|MCF2L_uc001vsr.2_Intron|MCF2L_uc001vss.3_Intron|MCF2L_uc010tjs.1_Intron|MCF2L_uc001vst.1_Intron NM_001112732 NP_001106203 GRK1 6011 broad.mit.edu 37 13 114430987 114430989 + Intron DEL GAG - - 2012-705:2012-1310-T g.chr13:114430987_114430989delGAG uc010tkf.1 + NM_002929 NP_002920 GRK1 6011 broad.mit.edu 37 13 114431267 114431269 + Intron DEL AGT - - 2012-705:2012-1310-T g.chr13:114431267_114431269delAGT uc010tkf.1 + NM_002929 NP_002920 RASA3 22821 broad.mit.edu 37 13 114883255 114883257 + Intron DEL GAG - - 2012-705:2012-1310-T g.chr13:114883255_114883257delGAG uc001vui.2 - RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron NM_007368 NP_031394 BOLA2 552900 broad.mit.edu 37 16 30056826 30056827 + Intron DEL GT - - 2012-705:2012-1310-T g.chr16:30056826_30056827delGT uc010bzb.1 - uc002dtf.2_Intron GPT2 84706 broad.mit.edu 37 16 46949293 46949295 + Intron DEL CAC - - 2012-705:2012-1310-T g.chr16:46949293_46949295delCAC uc002eel.2 + GPT2_uc002eem.2_Intron NM_133443 NP_597700 NUP93 9688 broad.mit.edu 37 16 56849811 56849812 + Intron INS - TGC TGC rs146899862;rs142265580 by1000genomes 2012-705:2012-1310-T g.chr16:56849811_56849812insTGC uc002eka.2 + NUP93_uc002ekb.2_Intron|NUP93_uc010vhi.1_Intron NM_014669 NP_055484 RPH3AL 9501 broad.mit.edu 37 17 137982 137983 + Intron INS - CT CT 2012-705:2012-1310-T g.chr17:137982_137983insCT uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 RPH3AL 9501 broad.mit.edu 37 17 138602 138603 + Intron INS - CT CT 2012-705:2012-1310-T g.chr17:138602_138603insCT uc002frd.1 - RPH3AL_uc010vpy.1_Intron|RPH3AL_uc002fre.1_Intron|RPH3AL_uc002frf.1_Intron|RPH3AL_uc010cjl.1_Intron NM_006987 NP_008918 CACNG4 27092 broad.mit.edu 37 17 65022236 65022239 + Intron DEL TGTA - - 2012-705:2012-1310-T g.chr17:65022236_65022239delTGTA uc002jft.1 + NM_014405 NP_055220 RPTOR 57521 broad.mit.edu 37 17 78608663 78608673 + Intron DEL TGTGTGCATAC - - rs67330071 2012-705:2012-1310-T g.chr17:78608663_78608673delTGTGTGCATAC uc002jyt.1 + RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron NM_020761 NP_065812 TBCD 6904 broad.mit.edu 37 17 80807802 80807803 + Intron INS - GCTC GCTC 2012-705:2012-1310-T g.chr17:80807802_80807803insGCTC uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 TBCD 6904 broad.mit.edu 37 17 80807804 80807805 + Intron INS - C C 2012-705:2012-1310-T g.chr17:80807804_80807805insC uc002kfz.2 + TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron NM_005993 NP_005984 ZNF236 7776 broad.mit.edu 37 18 74679398 74679399 + Intron INS - GGT GGT rs145977669 2012-705:2012-1310-T g.chr18:74679398_74679399insGGT uc002lmi.2 + ZNF236_uc002lmj.2_Intron NM_007345 NP_031371 SBNO2 22904 broad.mit.edu 37 19 1166218 1166223 + Intron DEL CCGAGA - - rs72977536 byFrequency;by1000genomes 2012-705:2012-1310-T g.chr19:1166218_1166223delCCGAGA uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 SBNO2 22904 broad.mit.edu 37 19 1166226 1166226 + Intron DEL C - - rs114932434 2012-705:2012-1310-T g.chr19:1166226delC uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 SBNO2 22904 broad.mit.edu 37 19 1166230 1166231 + Intron INS - T T rs150401110;rs66492416 2012-705:2012-1310-T g.chr19:1166230_1166231insT uc002lrk.3 - SBNO2_uc010dse.2_Intron NM_014963 NP_055778 FBN3 84467 broad.mit.edu 37 19 8150969 8150969 + Intron DEL A - - 2012-705:2012-1310-T g.chr19:8150969delA uc002mjf.2 - FBN3_uc002mje.2_Intron NM_032447 NP_115823 NOTCH3 4854 broad.mit.edu 37 19 15273583 15273584 + Intron DEL TT - - rs5827278;rs57540484 2012-705:2012-1310-T g.chr19:15273583_15273584delTT uc002nan.2 - NM_000435 NP_000426 DYSF 8291 broad.mit.edu 37 2 71799364 71799385 + Intron DEL CACAGATCACACCTAGCACACC - - rs70959302;rs72078337;rs112184497;rs116794045;rs145802178 2012-705:2012-1310-T g.chr2:71799364_71799385delCACAGATCACACCTAGCACACC uc002sie.2 + DYSF_uc010feg.2_Intron|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_Intron|DYSF_uc010fee.2_Intron|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Intron|DYSF_uc010fem.2_Intron|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Intron NM_003494 NP_003485 RMND5A 64795 broad.mit.edu 37 2 87656069 87656069 + Intron DEL A - - 2012-705:2012-1310-T g.chr2:87656069delA uc002srs.3 + AGAP1 116987 broad.mit.edu 37 2 236434039 236434040 + Intron DEL AC - - rs144248860 2012-705:2012-1310-T g.chr2:236434039_236434040delAC uc002vvs.2 + AGAP1_uc002vvt.2_Intron NM_001037131 NP_001032208 AGAP1 116987 broad.mit.edu 37 2 236711663 236711664 + Intron INS - TGA TGA rs147629941 by1000genomes 2012-705:2012-1310-T g.chr2:236711663_236711664insTGA uc002vvs.2 + AGAP1_uc002vvt.2_Intron NM_001037131 NP_001032208 MLPH 79083 broad.mit.edu 37 2 238453843 238453844 + Intron INS - GG GG 2012-705:2012-1310-T g.chr2:238453843_238453844insGG uc002vwt.2 + MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Intron|MLPH_uc002vwu.2_Intron|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Intron|MLPH_uc010fyu.2_Intron NM_024101 NP_077006 CDH4 1002 broad.mit.edu 37 20 59858492 59858498 + Intron DEL TGTGGTG - - rs13041045 2012-705:2012-1310-T g.chr20:59858492_59858498delTGTGGTG uc002ybn.1 + NM_001794 NP_001785 CDH4 1002 broad.mit.edu 37 20 60433354 60433355 + Intron DEL TC - - 2012-705:2012-1310-T g.chr20:60433354_60433355delTC uc002ybn.1 + CDH4_uc002ybp.1_Intron NM_001794 NP_001785 ABCG1 9619 broad.mit.edu 37 21 43713189 43713192 + Intron DEL CACA - - 2012-705:2012-1310-T g.chr21:43713189_43713192delCACA uc002zaq.2 + ABCG1_uc002zan.2_Intron|ABCG1_uc002zam.2_Intron|ABCG1_uc002zao.2_Intron|ABCG1_uc002zap.2_Intron|ABCG1_uc002zar.2_Intron|ABCG1_uc011aev.1_Intron|ABCG1_uc010gpb.1_Intron NM_004915 NP_004906 WDR4 10785 broad.mit.edu 37 21 44268686 44268687 + Intron INS - CTCA CTCA 2012-705:2012-1310-T g.chr21:44268686_44268687insCTCA uc002zci.2 - uc002zcj.1_5'Flank NM_033661 NP_387510 WDR4 10785 broad.mit.edu 37 21 44269241 44269242 + Intron INS - CTCA CTCA rs137882434;rs35460606 by1000genomes 2012-705:2012-1310-T g.chr21:44269241_44269242insCTCA uc002zci.2 - NM_033661 NP_387510 KREMEN1 83999 broad.mit.edu 37 22 29516097 29516098 + Intron INS - AC AC rs56775329 2012-705:2012-1310-T g.chr22:29516097_29516098insAC uc011akm.1 + KREMEN1_uc003ael.2_Intron|KREMEN1_uc011akn.1_Intron NM_032045 NP_114434 MPPED1 758 broad.mit.edu 37 22 43828733 43828734 + Intron DEL GA - - 2012-705:2012-1310-T g.chr22:43828733_43828734delGA uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 MPPED1 758 broad.mit.edu 37 22 43887611 43887612 + Intron INS - GGTGGTGGTGATGGA GGTGGTGGTGATGGA 2012-705:2012-1310-T g.chr22:43887611_43887612insGGTGGTGGTGATGGA uc011apv.1 + MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron NM_001044370 NP_001037835 IFT122 55764 broad.mit.edu 37 3 129235882 129235883 + Intron INS - CA CA 2012-705:2012-1310-T g.chr3:129235882_129235883insCA uc003emm.2 + IFT122_uc003eml.2_Intron|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Intron|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Intron NM_052989 NP_443715 PDE6B 5158 broad.mit.edu 37 4 616560 616566 + 5'Flank DEL CATCTCA - - 2012-705:2012-1310-T g.chr4:616560_616566delCATCTCA uc003gap.2 + PDE6B_uc003gao.3_5'Flank NM_000283 NP_000274 PDE6B 5158 broad.mit.edu 37 4 616569 616572 + 5'Flank DEL TGTT - - 2012-705:2012-1310-T g.chr4:616569_616572delTGTT uc003gap.2 + PDE6B_uc003gao.3_5'Flank NM_000283 NP_000274 GAK 2580 broad.mit.edu 37 4 849992 849993 + Intron INS - T T 2012-705:2012-1310-T g.chr4:849992_849993insT uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibi.2_Intron|GAK_uc010ibj.2_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 GAK 2580 broad.mit.edu 37 4 849994 849995 + Intron INS - AG AG 2012-705:2012-1310-T g.chr4:849994_849995insAG uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibi.2_Intron|GAK_uc010ibj.2_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 GAK 2580 broad.mit.edu 37 4 850438 850447 + Intron DEL GCTCACCATA - - 2012-705:2012-1310-T g.chr4:850438_850447delGCTCACCATA uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibi.2_Intron|GAK_uc010ibj.2_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 ZFYVE28 57732 broad.mit.edu 37 4 2338540 2338540 + Intron DEL G - - 2012-705:2012-1310-T g.chr4:2338540delG uc003gex.1 - ZFYVE28_uc011bvk.1_Intron|ZFYVE28_uc011bvl.1_Intron|ZFYVE28_uc003gey.3_Intron|ZFYVE28_uc003gez.2_Intron|ZFYVE28_uc003gew.1_Intron NM_020972 NP_066023 HTT 3064 broad.mit.edu 37 4 3231354 3231355 + Intron DEL CA - - 2012-705:2012-1310-T g.chr4:3231354_3231355delCA uc011bvq.1 + NM_002111 NP_002102 MAML3 55534 broad.mit.edu 37 4 140811084 140811084 + Frame_Shift_Del DEL C - - rs12506879 by1000genomes 2012-705:2012-1310-T g.chr4:140811084delC uc003ihz.1 - 2 2258 c.1506delG c.(1504-1506)CAGfs p.Q502fs MAML3_uc011chd.1_Intron NM_018717 NP_061187 MAML3 55534 broad.mit.edu 37 4 140811086 140811096 + Frame_Shift_Del DEL GCTGCTGCTGC - - rs67877726;rs72161425;rs79090010 by1000genomes 2012-705:2012-1310-T g.chr4:140811086_140811096delGCTGCTGCTGC uc003ihz.1 - 2 2246_2256 c.1494_1504delGCAGCAGCAGC c.(1492-1506)CAGCAGCAGCAGCAGfs p.Q498fs MAML3_uc011chd.1_Intron NM_018717 NP_061187 MTNR1A 4543 broad.mit.edu 37 4 187461984 187461985 + Intron INS - GAAG GAAG 2012-705:2012-1310-T g.chr4:187461984_187461985insGAAG uc003izd.1 - NM_005958 NP_005949 MTNR1A 4543 broad.mit.edu 37 4 187468273 187468274 + Intron INS - TCC TCC 2012-705:2012-1310-T g.chr4:187468273_187468274insTCC uc003izd.1 - NM_005958 NP_005949 SLC12A7 10723 broad.mit.edu 37 5 1072388 1072389 + Intron INS - C C 2012-705:2012-1310-T g.chr5:1072388_1072389insC uc003jbu.2 - NM_006598 NP_006589 RNF130 55819 broad.mit.edu 37 5 179442607 179442607 + Intron DEL G - - 2012-705:2012-1310-T g.chr5:179442607delG uc003mll.1 - RNF130_uc003mlm.1_Intron|MIR340_hsa-mir-340|MI0000802_5'Flank|uc003mln.2_5'Flank NM_018434 NP_060904 SLC22A23 63027 broad.mit.edu 37 6 3310661 3310661 + Intron DEL C - - 2012-705:2012-1310-T g.chr6:3310661delC uc003mvm.3 - SLC22A23_uc003mvn.3_Intron|SLC22A23_uc003mvo.3_Intron|SLC22A23_uc003mvp.1_Intron|SLC22A23_uc010jnn.2_Intron NM_015482 NP_056297 HLA-G 3135 broad.mit.edu 37 6 29926301 29926315 + Intron DEL GGGACAGTACCCAGG - - rs140695210;rs41271884 2012-705:2012-1310-T g.chr6:29926301_29926315delGGGACAGTACCCAGG uc011dmb.1 + NM_002127 NP_002118 SYNE1 23345 broad.mit.edu 37 6 152786901 152786902 + Intron INS - AC AC rs10549697 2012-705:2012-1310-T g.chr6:152786901_152786902insAC uc010kiw.2 - SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qpa.1_Intron|SYNE1_uc003qow.2_5'Flank|SYNE1_uc003qox.1_Intron|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Intron NM_182961 NP_892006 CUX1 1523 broad.mit.edu 37 7 101860166 101860167 + Intron DEL CA - - rs148256350 2012-705:2012-1310-T g.chr7:101860166_101860167delCA uc003uyx.3 + CUX1_uc003uys.3_Intron|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 PRKAG2 51422 broad.mit.edu 37 7 151539720 151539721 + Intron INS - GGTA GGTA rs146532523;rs72407966 by1000genomes 2012-705:2012-1310-T g.chr7:151539720_151539721insGGTA uc003wkk.2 - PRKAG2_uc010lqe.1_Intron|PRKAG2_uc003wkm.1_Intron NM_016203 NP_057287 PTPRN2 5799 broad.mit.edu 37 7 157864134 157864148 + Intron DEL GAGGTGCTCGTGGTT - - rs144315471;rs117111043 by1000genomes;by1000genomes 2012-705:2012-1310-T g.chr7:157864134_157864148delGAGGTGCTCGTGGTT uc003wno.2 - PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron|uc003wnt.1_5'Flank NM_002847 NP_002838 ERICH1 157697 broad.mit.edu 37 8 626336 626336 + Intron DEL G - - 2012-705:2012-1310-T g.chr8:626336delG uc003wph.2 - ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron|ERICH1_uc003wpi.2_5'Flank NM_207332 NP_997215 PEBP4 157310 broad.mit.edu 37 8 22623306 22623307 + Intron INS - A A rs61315444;rs35035196 2012-705:2012-1310-T g.chr8:22623306_22623307insA uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623307 22623308 + Intron INS - TC TC rs35035196;rs56184904 2012-705:2012-1310-T g.chr8:22623307_22623308insTC uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623337 22623338 + Intron INS - A A rs71834123 2012-705:2012-1310-T g.chr8:22623337_22623338insA uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623338 22623339 + Intron INS - TC TC rs71834123 2012-705:2012-1310-T g.chr8:22623338_22623339insTC uc003xcn.1 - NM_144962 NP_659399 PEBP4 157310 broad.mit.edu 37 8 22623369 22623370 + Intron INS - TC TC rs66898805;rs62494989 2012-705:2012-1310-T g.chr8:22623369_22623370insTC uc003xcn.1 - NM_144962 NP_659399 TOP1MT 116447 broad.mit.edu 37 8 144404149 144404163 + Intron DEL GCACGCCACACACAT - - rs138235081 by1000genomes 2012-705:2012-1310-T g.chr8:144404149_144404163delGCACGCCACACACAT uc003yxz.2 - TOP1MT_uc011lkd.1_Intron|TOP1MT_uc011lke.1_Intron|TOP1MT_uc010mfb.2_Intron|TOP1MT_uc011lkf.1_Intron|TOP1MT_uc010mfd.1_Intron NM_052963 NP_443195 COL5A1 1289 broad.mit.edu 37 9 137577220 137577221 + Intron INS - CCAT CCAT rs138665013 2012-705:2012-1310-T g.chr9:137577220_137577221insCCAT uc004cfe.2 + NM_000093 NP_000084 SCNN1D 6339 broad.mit.edu 37 1 1223836 1223837 + Intron DEL CC - - 2012-706:2012-1311-T g.chr1:1223836_1223837delCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 SCNN1D 6339 broad.mit.edu 37 1 1224265 1224266 + Intron INS - CC CC 2012-706:2012-1311-T g.chr1:1224265_1224266insCC uc001adu.1 + SCNN1D_uc001adt.1_Intron|SCNN1D_uc001adw.2_Intron|SCNN1D_uc001adx.2_Intron|SCNN1D_uc001adv.2_Intron NM_002978 NP_002969 PRDM16 63976 broad.mit.edu 37 1 3030991 3030992 + Intron INS - G G rs142220406;rs150992402 by1000genomes 2012-706:2012-1311-T g.chr1:3030991_3030992insG uc001akf.2 + PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Intron|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Intron NM_022114 NP_071397 MEGF6 1953 broad.mit.edu 37 1 3427171 3427173 + Intron DEL CCA - - 2012-706:2012-1311-T g.chr1:3427171_3427173delCCA uc001akl.2 - MEGF6_uc001akk.2_Intron NM_001409 NP_001400 C1orf173 127254 broad.mit.edu 37 1 75102138 75102138 + Intron DEL A - - 2012-706:2012-1311-T g.chr1:75102138delA uc001dgg.2 - C1orf173_uc001dgi.3_5'Flank NM_001002912 NP_001002912 KIF21B 23046 broad.mit.edu 37 1 200976484 200976485 + Intron DEL AC - - 2012-706:2012-1311-T g.chr1:200976484_200976485delAC uc001gvs.1 - KIF21B_uc001gvr.1_Intron|KIF21B_uc009wzl.1_Intron|KIF21B_uc010ppn.1_Intron|KIF21B_uc001gvt.1_5'Flank NM_017596 NP_060066 CNST 163882 broad.mit.edu 37 1 246783848 246783849 + Intron DEL TC - - rs72056399;rs71638362 2012-706:2012-1311-T g.chr1:246783848_246783849delTC uc001ibp.2 + CNST_uc001ibo.3_Intron NM_152609 NP_689822 PCDH15 65217 broad.mit.edu 37 10 57298680 57298681 + Intron DEL TT - - 2012-706:2012-1311-T g.chr10:57298680_57298681delTT uc001jjv.1 - NM_001142770 NP_001136242 PCDH15 65217 broad.mit.edu 37 10 57298683 57298684 + Intron DEL CT - - 2012-706:2012-1311-T g.chr10:57298683_57298684delCT uc001jjv.1 - NM_001142770 NP_001136242 JAKMIP3 282973 broad.mit.edu 37 10 133974604 133974605 + Intron INS - G G 2012-706:2012-1311-T g.chr10:133974604_133974605insG uc001lkx.3 + JAKMIP3_uc009yba.1_Intron NM_001105521 NP_001098991 ODF3 113746 broad.mit.edu 37 11 196148 196149 + 5'Flank DEL GA - - 2012-706:2012-1311-T g.chr11:196148_196149delGA uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 ODF3 113746 broad.mit.edu 37 11 196254 196263 + 5'Flank DEL CATGAGGGGG - - 2012-706:2012-1311-T g.chr11:196254_196263delCATGAGGGGG uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 ODF3 113746 broad.mit.edu 37 11 196267 196267 + 5'Flank DEL T - - 2012-706:2012-1311-T g.chr11:196267delT uc001lob.2 + ODF3_uc010qvk.1_5'Flank|ODF3_uc001loc.2_5'Flank NM_053280 NP_444510 TP53I11 9537 broad.mit.edu 37 11 44963887 44963888 + Intron DEL CA - - 2012-706:2012-1311-T g.chr11:44963887_44963888delCA uc001myi.2 - TP53I11_uc001myf.1_Intron|TP53I11_uc001myj.2_Intron|TP53I11_uc001myk.2_Intron|TP53I11_uc001myl.2_Intron|TP53I11_uc001mym.2_Intron NM_006034 NP_006025 PTPRR 5801 broad.mit.edu 37 12 71124902 71124903 + Intron DEL GA - - 2012-706:2012-1311-T g.chr12:71124902_71124903delGA uc001swi.1 - PTPRR_uc001swh.1_Intron|PTPRR_uc009zrs.2_Intron|PTPRR_uc010stq.1_Intron|PTPRR_uc010str.1_Intron NM_002849 NP_002840 NCOR2 9612 broad.mit.edu 37 12 124964000 124964001 + Intron INS - ACAC ACAC rs144568176 by1000genomes 2012-706:2012-1311-T g.chr12:124964000_124964001insACAC uc010tba.1 - NCOR2_uc010tay.1_Intron|NCOR2_uc010taz.1_Intron|NCOR2_uc010tbb.1_Intron|NCOR2_uc010tbc.1_Intron|NCOR2_uc001ugj.1_Intron|NCOR2_uc001ugk.1_Intron NM_001077261 NP_001070729 TMEM132D 121256 broad.mit.edu 37 12 129988526 129988528 + Intron DEL TCA - - rs34304420 2012-706:2012-1311-T g.chr12:129988526_129988528delTCA uc009zyl.1 - NM_133448 NP_597705 TMEM132D 121256 broad.mit.edu 37 12 129988574 129988576 + Intron DEL TCA - - 2012-706:2012-1311-T g.chr12:129988574_129988576delTCA uc009zyl.1 - NM_133448 NP_597705 PXMP2 5827 broad.mit.edu 37 12 133270136 133270136 + Intron DEL A - - rs66560973 2012-706:2012-1311-T g.chr12:133270136delA uc001ukt.2 + PGAM5_uc010tbr.1_Intron NM_018663 NP_061133 COL4A1 1282 broad.mit.edu 37 13 110908133 110908133 + Intron DEL A - - 2012-706:2012-1311-T g.chr13:110908133delA uc001vqw.3 - COL4A1_uc010agl.2_Intron NM_001845 NP_001836 COL4A2 1284 broad.mit.edu 37 13 111134150 111134150 + Intron DEL T - - rs67395931 2012-706:2012-1311-T g.chr13:111134150delT uc001vqx.2 + NM_001846 NP_001837 CHRFAM7A 89832 broad.mit.edu 37 15 30668185 30668186 + Intron INS - AT AT rs146286293;rs117449055 by1000genomes 2012-706:2012-1311-T g.chr15:30668185_30668186insAT uc001zdt.1 - CHRFAM7A_uc001zdu.1_Intron|CHRFAM7A_uc010azn.2_Intron|CHRFAM7A_uc001zdv.2_5'Flank NM_139320 NP_647536 RAB11FIP3 9727 broad.mit.edu 37 16 554202 554202 + Intron DEL C - - 2012-706:2012-1311-T g.chr16:554202delC uc002chf.2 + RAB11FIP3_uc010uuf.1_Intron|RAB11FIP3_uc010uug.1_Intron NM_014700 NP_055515 TIMM22 29928 broad.mit.edu 37 17 897483 897483 + 5'Flank DEL C - - rs111389070 2012-706:2012-1311-T g.chr17:897483delC uc002fsc.2 + NM_013337 NP_037469 KCNJ12 3768 broad.mit.edu 37 17 21313596 21313597 + Intron INS - ACT ACT rs138484086;rs142874237 2012-706:2012-1311-T g.chr17:21313596_21313597insACT uc002gyv.1 + NM_021012 NP_066292 ATP9B 374868 broad.mit.edu 37 18 77006266 77006267 + Intron INS - GC GC 2012-706:2012-1311-T g.chr18:77006266_77006267insGC uc002lmx.2 + ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Intron|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_Intron NM_198531 NP_940933 KCNG2 26251 broad.mit.edu 37 18 77625296 77625297 + Intron INS - GA GA 2012-706:2012-1311-T g.chr18:77625296_77625297insGA uc010xfl.1 + NM_012283 NP_036415 ZBTB46 140685 broad.mit.edu 37 20 62439418 62439419 + 5'Flank DEL GG - - rs10577517 2012-706:2012-1311-T g.chr20:62439418_62439419delGG uc002ygv.1 - ZBTB46_uc002ygu.2_Intron|uc002ygw.2_5'Flank NM_025224 NP_079500 GAK 2580 broad.mit.edu 37 4 850356 850358 + Intron DEL CAC - - rs33935481 2012-706:2012-1311-T g.chr4:850356_850358delCAC uc003gbm.3 - GAK_uc003gbn.3_Intron|GAK_uc010ibi.2_Intron|GAK_uc010ibj.2_Intron|GAK_uc003gbl.3_Intron NM_005255 NP_005246 UNC5A 90249 broad.mit.edu 37 5 176299482 176299482 + Intron DEL G - - 2012-706:2012-1311-T g.chr5:176299482delG uc003mey.2 + UNC5A_uc010jkg.1_Intron NM_133369 NP_588610 NCAPG2 54892 broad.mit.edu 37 7 158460591 158460591 + Intron DEL C - - 2012-706:2012-1311-T g.chr7:158460591delC uc003wnv.1 - NCAPG2_uc010lqu.1_Intron|NCAPG2_uc003wnw.1_Intron|NCAPG2_uc003wnx.1_Intron|NCAPG2_uc011kwe.1_Intron|NCAPG2_uc011kwc.1_5'Flank NM_017760 NP_060230 CDKN2A 1029 broad.mit.edu 37 9 21971124 21971125 + Frame_Shift_Del DEL GA - - 2012-706:2012-1311-T g.chr9:21971124_21971125delGA uc003zpk.2 - 2 445_446 c.233_234delTC c.(232-234)CTCfs p.L78fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.S133fs NM_000077 NP_000068 TRPM3 80036 broad.mit.edu 37 9 74035904 74035905 + Intron DEL AG - - rs11142819 2012-706:2012-1311-T g.chr9:74035904_74035905delAG uc004aii.2 - NM_206948 NP_996831 COL5A1 1289 broad.mit.edu 37 9 137577431 137577432 + Intron INS - A A rs139419653 2012-706:2012-1311-T g.chr9:137577431_137577432insA uc004cfe.2 + NM_000093 NP_000084