chr1:246291210 AS 1116096 1 246291210 A>>>G exon N N N 15 N N N N N N 1 ns:OR2L3-001_an:dbsnp129_an:dbsnp130_ chr1:113019176 G 19825487 1 113019176 A>>>C exon N N N 4 N N N N N N 1 ns:MOV10-005_ns:MOV10-201_ns:MOV10-001_ns:MOV10-006_ chr1:142455696 G 38540436 1 142455696 T>>>C exon N N N 7 N N N N N N 1 ns:BX284650.8-201_ chr1:110084413 S 70255094 1 110084413 A>>>G exon N N N 7(174/336) N N N N N N 1 ns:GSTM3-201_ns:GSTM3-001_ chr1:234021795 G 72725405 1 234021795 T>>>G exon N N N 22 N N N(6/15) N N N 1 ns:LYST-001_ns:LYST-201_ chr1:16764804 G 79811696 1 16764804 C>>>T exon N N N 229 50 N N 282 N N 3 ns:NBPF1-205_ chr1:5862165 S 79811951 1 5862165 C>>>A exon N N N 4 N N N N N N 1 ns:NPHP4-203_ chr1:16764808 G 79812631 1 16764808 T>>>C exon N N N 215 48 N N 278 29 N 4 ns:NBPF1-205_ chr1:109609910 G 79815449 1 109609910 A>>>C exon N N N 7 N N N N N N 1 ns:CELSR2-001_ chr1:120349618 G 79815977 1 120349618 C>>>A exon N N N 13 N N N N N N 1 ns:NOTCH2-001_ns:NOTCH2-201_ chr1:179181162 G 79816720 1 179181162 G>>>A exon N N N 8 N N N N N N 1 ns:KIAA1614-002_ns:KIAA1614-001_ chr1:154822240 S 79817085 1 154822240 A>>>G exon N N N 6 N N N N N N 1 ns:TTC24-006_ns:TTC24-201_ chr1:160734488 G 79817563 1 160734488 T>>>G exon N N N 7 N N N N N N 1 syn:UHMK1-201_ns:UHMK1-001_ chr1:158044739 S 79817573 1 158044739 C>>>T exon N N N 9 N N N N N N 1 ns:FCRL6-001_ns:FCRL6-002_ns:FCRL6-003_ns:FCRL6-004_ chr1:150055830 G 79817604 1 150055830 T>>>G exon N N N 5 N N N N N N 1 ns:RORC-002_ns:RORC-201_ns:RORC-001_ chr1:201411365 G 79818810 1 201411365 G>>>A exon N N N 7 N N N N N N 1 ns:MYBPH-001_ chr1:201044320 G 79819020 1 201044320 G>>>C exon N N N 2 N 2 N 12 N N 3 ns:JARID1B-201_ chr10:51031791 G 1343549 10 51031791 T>>>C exon N N N 15 12 N N 4 N N 3 ns:PARG-203_ns:PARG-204_syn:PARG-202_an:dbsnp129_an:dbsnp130_ chr10:75801690 G 79695705 10 75801690 A>>>C exon N N 16 18 N N N N N N 2 ns:AC022026.7-201_ chr10:50557765 G 79823668 10 50557765 G>>>A exon N N N 10 N N N N N N 1 ns:C10orf53-002_ns:C10orf53-003_ns:C10orf53-001_ chr10:52089646 G 79824216 10 52089646 A>>>T exon N N N 5 N N N N N N 1 ns:AL589794.7-201_ chr10:123833460 G 79825483 10 123833460 C>>>A exon N N N 8 N N N N N N 1 ns:TACC2-023_ns:TACC2-201_ns:TACC2-013_ chr11:820383 G 1733711 11 820383 G>>>T exon N N N 4 N N N N N N 1 ns:EFCAB4A-202_an:dbsnp130_ chr11:89171158 G 2119672 11 89171158 C>>>T exon N N N 10 N N N N N N 1 ns:TRIM49-201_an:dbsnp129_an:dbsnp130_ chr11:1008146 G 79826327 11 1008146 G>>>A exon N N N 14 N N N N N N 1 ns:MUC6-201_ chr11:6522812 G 79826675 11 6522812 T>>>C exon N N N 7 N N N N N N 1 ns:DNHD1L-201_ chr11:591642 S 79826757 11 591642 G>>>T exon N N N 4 N N N N N N 1 ns:PHRF1-201_ chr11:61415309 S 79828582 11 61415309 T>>>G exon N N N 4 N N N N N N 1 ns:FADS3-201_ chr11:55208168 G 79828693 11 55208168 A>>>C exon N N N 22 N N N N N 12 2 ns:OR4P1P-201_ chr11:119104434 G 79831180 11 119104434 A>>>C exon N N N 4 N N N N N N 1 ns:PVRL1-203_ns:PVRL1-201_ns:PVRL1-202_ chr12:52680604 G 2607202 12 52680604 C>>>T exon N N N 7 N N N N N N 1 ns:HOXC9-201_an:dbsnp129_an:dbsnp130_ chr12:32723533 G 70977497 12 32723533 G>>>T exon N N N 9(6/14) N N N N N N 1 ns:DNM1L-205_ chr12:124000941 S 73095190 12 124000941 C>>>T exon N N N 11(10/14) N N N N N N 1 ns:DHX37-201_ chr12:29710428 G 79400949 12 29710428 C>>>T exon 21 N N 4 N N N N N N 2 ns:TMTC1-202_ chr12:45060670 S 79835083 12 45060670 A>>>T exon N N N 4 N 2 N N N N 2 ns:SLC38A2-202_ chr14:106202134 G 35644931 14 106202134 A>>>G exon N N N 13 N N N N N N 1 ns:AB019437.1-201_an:dbsnp129_ chr14:24171146 G 71968026 14 24171146 G>>>A exon N N N 11(3/4) N N N N N N 1 ns:GZMB-001_ns:GZMB-202_ns:GZMB-203_ns:GZMB-201_ chr14:94976027 G 73101017 14 94976027 C>>>T exon N N N 8(3/9) N N N N N N 1 ns:C14orf49-201_ chr14:20858131 G 79842388 14 20858131 A>>>C exon N N N 13 N N N N N N 1 ns:RPGRIP1-204_ns:RPGRIP1-201_ns:RPGRIP1-203_ chr14:106202082 G 79847594 14 106202082 G>>>T exon N N N 12 N N N N N N 1 ns:AB019437.1-201_ chr14:106202083 G 79847919 14 106202083 C>>>T exon N N N 12 N N N N N N 1 ns:AB019437.1-201_ chr15:38443339 G 3928258 15 38443339 G>>>A exon N N N 4(8/10) N N N N N N 1 ns:DISP2-001_an:dbsnp129_an:dbsnp130_ chr15:62175372 G 73102847 15 62175372 C>>>G exon N N N 4(5/8) N N N N N N 1 ns:SNX1-201_ns:SNX1-203_ns:SNX1-202_ chr15:38850173 G 79848392 15 38850173 G>>>C exon N N N 4 N N N N N N 1 ns:C15orf62-201_ chr15:73769326 G 79849596 15 73769326 C>>>T exon N N N 7 N N N N N N 1 ns:CSPG4-001_ chr15:56145139 S 79850154 15 56145139 A>>>G exon N N N 4 N N N N N N 1 ns:ALDH1A2-001_ns:ALDH1A2-002_ chr16:86002763 G 14225700 16 86002763 A>>>C exon N N N 4 N N N N N N 1 ns:ZCCHC14-001_ chr16:2923242 G 14227611 16 2923242 A>>>C exon N N N 5 N N N N N N 1 ns:FLYWCH1-203_ns:FLYWCH1-201_ chr16:84257349 G 70290976 16 84257349 A>>>T exon N N N 14(50/100) N N N N N N 1 ns:AC123908.3-003_ns:AC123908.3-002_ns:AC123908.3-001_ chr16:30288684 ? 76612176 16 30288684 C>>>G exon N N N 5 N N N(5/15) N N N 1 ns:TBC1D10B-001_ chr16:5080512 G 79850469 16 5080512 G>>>A exon N N N 5 N N N N N N 1 ns:FAM86A-001_ns:FAM86A-002_ chr16:869738 S 79851647 16 869738 T>>>G exon N N N 8 N N N N N N 1 ns:LMF1-201_ chr16:4599784 G 79851664 16 4599784 A>>>G exon N N N 4 N N N N N N 1 ns:AC009171.6-001_ chr16:11743844 S? 79851680 16 11743844 A>>>C exon N N N 4 N N N N N N 1 ns:TXNDC11-201_ns:TXNDC11-202_syn:TXNDC11-203_ chr17:36549992 G 4784118 17 36549992 G>>>A exon N N N 10 N N N N N N 1 ns:KRTAP4-6-001_an:dbsnp129_an:dbsnp130_ chr17:36494316 G 4813335 17 36494316 G>>>A exon N N N 12 N N N N N N 1 ns:AC100808.5-001_an:dbsnp129_an:dbsnp130_ chr17:36475342 S 79432550 17 36475342 C>>>T exon 5 N N 7 N N N N N N 2 ns:KRTAP2-4-001_ chr17:36675589 G 79433212 17 36675589 A>>>G exon 3 N N 5 N N N N N N 2 ns:KRTAP9-6-001_ chr17:7270408 G 79853934 17 7270408 G>>>A exon N N N 6 N N N N N N 1 ns:C17orf74-201_ chr17:40863214 G 79855670 17 40863214 T>>>G exon N N N 5 N N N N N N 1 ns:SH3D20-201_ chr17:36475349 S 79856843 17 36475349 C>>>G exon N N N 6 N N N N N N 1 ns:KRTAP2-4-001_ chr17:38386451 S 79856858 17 38386451 T>>>C exon N N N 2 N N N N N 5 2 ns:RUNDC1-201_ chr17:45401890 S 79857195 17 45401890 A>>>C exon N N N 5 N N N N N N 1 ns:DLX4-201_ chr17:75598849 G 79858444 17 75598849 C>>>T exon N N N 7 N N N N N N 1 ns:TBC1D16-201_ chr17:53920102 S? 79858534 17 53920102 G>>>C exon N N N 8 N N N N N N 1 ns:HSF5-201_ chr17:60651837 G 79858802 17 60651837 G>>>A exon N N N 5 N N N N N N 1 ns:RGS9-201_ chr18:26841077 G 79859336 18 26841077 C>>>A exon N N N 16 N N N N N N 1 ns:DSC3-201_ns:DSC3-202_ chr19:46323257 G 38540624 19 46323257 T>>>C exon N N N 11 N N N N N N 1 ns:CYP2F1-201_ chr19:1767799 G 70297174 19 1767799 T>>>C exon N N N 5(22/35) N N N N N N 1 ns:REXO1-201_ chr19:17627183 G 70297717 19 17627183 G>>>A exon N N N 8(9/19) N N N N N N 1 ns:UNC13A-201_ chr19:798944 G 71982804 19 798944 G>>>A exon N N N 5 N N N N N N 1 ns:PRTN3-201_ chr19:54363019 G 71983756 19 54363019 G>>>A exon N N N 5 N N N N N N 1 ns:TRPM4-202_ns:TRPM4-201_an:nature08795_ chr19:60686819 G 73110509 19 60686819 G>>>C exon N N N 4(4/5) N N N N N N 1 ns:ZNF628-001_ns:ZNF628-201_ chr19:2168081 S 79861084 19 2168081 A>>>G exon N N N 4 N N N N N N 1 ns:DOT1L-201_ns:DOT1L-001_ chr19:4005632 S? 79861894 19 4005632 T>>>C exon N N N 4 N N N N N N 1 ns:ZBTB7A-201_ chr19:15149501 G 79863245 19 15149501 T>>>C exon N N N 6 N N N N N N 1 ns:NOTCH3-201_ chr19:44013927 G 79864266 19 44013927 T>>>A exon N N N 4 N N N N N N 1 ns:ECH1-201_ chr19:58083493 G 79864651 19 58083493 T>>>G exon N N N 4 N N N N N N 1 ns:ZNF320-201_ chr19:63288105 S? 79865376 19 63288105 T>>>G exon N N N 4 N N N N N N 1 ns:ZSCAN18-201_ns:ZSCAN18-202_ chr19:55156143 G 79865814 19 55156143 G>>>A exon N N N 5 N N N N N N 1 ns:SIGLEC11-202_ chr19:60023105 S 79865858 19 60023105 T>>>C exon N N N 11 N N N N N N 1 ns:KIR3DL1-002_ns:KIR3DL1-003_ns:KIR3DL1-001_ chr19:58083496 G 79866194 19 58083496 A>>>G exon N N N 4 N N N N N N 1 ns:ZNF320-201_ chr2:68215410 G 73236891 2 68215410 A>>>C exon N N N 25 N N(6/23) N N N(7/41) N 1 ns:WDR92-004_ns:WDR92-005_ns:WDR92-201_ns:WDR92-001_ chr2:24348250 G 77373031 2 24348250 G>>>T exon N N N N(12/45) N 7 N N N N 1 ns:ITSN2-002_ns:ITSN2-001_ns:ITSN2-201_ns:ITSN2-202_ns:ITSN2-004_ chr2:23719036 G 79866942 2 23719036 G>>>A exon N N N 5 N N N N N N 1 ns:KLHL29-201_ chr2:130549493 S 79870748 2 130549493 C>>>A exon N N N 10 N N N N N N 1 syn:A26C1B-201_ns:A26C1B-001_ chr2:242160394 G 79875099 2 242160394 C>>>A exon N N N 4 N N N N N N 1 ns:BOK-001_ chr2:229598667 G 79875148 2 229598667 C>>>A exon N N N 4 N N N N N N 1 ns:PID1-005_ns:PID1-201_ns:PID1-004_ns:PID1-002_ns:PID1-001_ chr20:60811219 G 7004940 20 60811219 C>>>T exon N N N 5 N N N N N N 1 ns:NTSR1-001_an:dbsnp129_an:dbsnp130_ chr20:3094733 G 76618072 20 3094733 T>>>G exon N N N 9 N N N N N N(8/31) 1 ns:RP5-1187M17.10-001_ns:RP5-1187M17.10-002_ns:RP5-1187M17.10-201_ chr20:30507628 S 79876392 20 30507628 T>>>G exon N N N 4 N N N N N N 1 ns:C20orf112-001_ns:C20orf112-204_ chr20:61644248 S 79878260 20 61644248 A>>>C exon N N N 4 N N N N N N 1 ns:SRMS-001_ chr21:46233471 S 20069723 21 46233471 G>>>T exon N N N 4 N N N N N N 1 ns:COL6A1-001_ chr21:42396848 G 79879881 21 42396848 C>>>T exon N N N 16 N N N N N N 1 ns:C21orf128-001_ chr22:16005915 G 7275875 22 16005915 G>>>A exon N N N 12(17/25) N N N N N N 1 ns:CECR5-002_ns:CECR5-001_an:dbsnp129_an:dbsnp130_ chr22:23346941 G 76619275 22 23346941 C>>>G exon N N N 6 N 7 N N N N 2 ns:GGT1-005_ns:GGT1-002_ns:GGT1-201_ns:GGT1-001_ns:GGT1-202_ chr22:25103662 G 79879685 22 25103662 G>>>C exon N N N 12 N N N N N N 1 syn:SEZ6L-201_ns:SEZ6L-001_ns:SEZ6L-005_ns:SEZ6L-002_ns:SEZ6L-003_ns:SEZ6L-006_ns:SEZ6L-004_ chr22:29324903 G 79880711 22 29324903 A>>>T exon N N N 5 N N N N N N 1 ns:PES1-201_ chr3:196990532 G 8298897 3 196990532 A>>>G exon N N N 6 N N N N N 6 2 ns:MUC4-001_an:dbsnp129_an:dbsnp130_ chr3:159932863 G 38540421 3 159932863 C>>>G exon N N N 6 N N N N N N 1 ns:RARRES1-201_ chr3:196996231 G 68168897 3 196996231 C>>>G exon N N N 14 N N N N N N 1 ns:MUC4-001_an:dbsnp129_ chr3:196997568 G 68169658 3 196997568 G>>>A exon N N N 7 N N N N 23 N 2 ns:MUC4-001_an:dbsnp129_ chr3:196991006 G 79760544 3 196991006 C>>>G exon N N 6 6 N N N N N N 2 ns:MUC4-001_ chr3:130748978 G 79886793 3 130748978 T>>>G exon N N N 4 N N N N N N 1 ns:H1FOO-201_ chr3:171127597 G 79889334 3 171127597 C>>>G exon N N N 11 N N N N N N 1 ns:SAMD7-201_ chr3:196997609 G 79890114 3 196997609 A>>>T exon N N N 7 N N N N N N 1 ns:MUC4-001_syn:MUC4-207_ chr3:196991396 G 79890580 3 196991396 G>>>A exon N N N 5 N N N N N N 1 ns:MUC4-001_ chr3:196991024 G 79890624 3 196991024 C>>>A exon N N N 8 N N N N N N 1 ns:MUC4-001_ chr3:196997646 G 79890809 3 196997646 G>>>T exon N N N 6 N N N N N N 1 ns:MUC4-001_syn:MUC4-207_ chr3:196990638 G 79890998 3 196990638 T>>>G exon N N N 9 N N N N N N 1 ns:MUC4-001_ chr3:196997621 G 79891058 3 196997621 G>>>A exon N N N 6 N N N N N N 1 ns:MUC4-001_syn:MUC4-207_ chr3:196997598 G 79891139 3 196997598 C>>>G exon N N N 5 N N N N N N 1 ns:MUC4-001_syn:MUC4-207_ chr4:191141214 G 9196476 4 191141214 T>>>C exon N N N 5 N N N N N N 1 ns:TUBB4Q-201_an:dbsnp129_an:dbsnp130_an:dbsnp130_ chr4:6641722 G 17596506 4 6641722 A>>>G exon N N N 11 N N N N N N 1 ns:MAN2B2-201_ chr4:187761066 G 20573409 4 187761066 A>>>C exon N N N 10 N N N N N N 1 ns:FAT1-201_ chr4:48038652 S 4 48038652 G>>>C exon N N N 4(2/2) N N N N N N 1 ns:SLAIN2-201_ chr4:8293568 S 4 8293568 A>>>C exon N N N 5 N N N N N N 1 ns:SH3TC1-001_ chr4:76077451 S 79894834 4 76077451 T>>>C exon N N N 4 N N N N N N 1 ns:AC110760.3-201_ chr4:88756004 G 79894851 4 88756004 A>>>G exon N N N 9 N N N N N N 1 ns:DSPP-201_ns:DSPP-202_ chr5:140537963 G 9792401 5 140537963 T>>>C exon N N N 11 N N N N N N 1 ns:PCDHB8-001_an:dbsnp129_an:dbsnp130_ chr5:178073015 G 15081200 5 178073015 C>>>T exon N N N 22 N N N N N N 1 ns:ZNF354A-001_ chr5:16724625 G 20671119 5 16724625 T>>>G exon N N N 8 N N N N N N 1 ns:MYO10-201_ chr5:180356963 S 79907937 5 180356963 C>>>A exon N N N 8 N N N N N N 1 ns:BTNL3-201_ chr6:31739699 G 74700423 6 31739699 T>>>C exon N N N 4 N N N N(22/85) N(17/69) N 1 ns:BAT4-003_ns:BAT4-005_ns:BAT4-002_ns:BAT4-004_ns:BAT4-001_ chr7:102011773 S? 11424784 7 102011773 C>>>T exon N N N 5 N N N N N N 1 ns:RASA4-001_an:dbsnp130_ chr7:142272044 G 11584115 7 142272044 G>>>A exon N N N 11(3/6) N N N N N N 1 ns:EPHB6-202_ns:EPHB6-201_an:dbsnp129_an:dbsnp130_ chr7:4794429 S 20859086 7 4794429 A>>>C exon N N N 7(15/31) N N N N N N 1 ns:KIAA0415-201_ns:AC092610.9-001_ chr7:23644402 G 79915339 7 23644402 T>>>G exon N N N 9 N 3 N N N N 2 ns:AC006026.2-201_ chr7:151566732 G 79921442 7 151566732 A>>>G exon N N N 24 N N N N N N 1 ns:MLL3-001_ chr7:156125766 G 79921460 7 156125766 A>>>C exon N N N 9 N N N N N N 1 ns:C7orf13-201_ chrX:150873846 G 13602085 X 150873846 C>>>A exon N N N 10 N N N N N N 1 ns:GABRE-201_ns:GABRE-001_ns:GABRE-202_an:dbsnp129_an:dbsnp130_ chrX:2418382 G 79936169 X 2418382 T>>>G exon N N N 5 N N N N N N 1 ns:ZBED1-001_ns:ZBED1-002_ chrX:107344089 S 79939331 X 107344089 C>>>A exon N N N 4 N N N N N N 1 ns:COL4A6-202_ns:COL4A6-002_ns:COL4A6-001_ chrX:70740172 S 79941756 X 70740172 C>>>A exon N N N 4 N N N N N N 1 ns:ACRC-001_ns:ACRC-002_ chrX:152692548 S 79944144 X 152692548 T>>>C exon N N N 4 N N N N N N 1 ns:PLXNB3-001_