chr1:120341265 G 526814 1 120341265 G>>>A exon 526814 N N N N 10 12 N N N N 2 ns:NOTCH2-001_ns:NOTCH2-201_an:dbsnp129_an:dbsnp130_an:dbsnp130_ chr1:120341214 G 528214 1 120341214 G>>>T exon 528214 N N N N N 19 N N N N 1 ns:NOTCH2-001_ns:NOTCH2-201_an:dbsnp129_an:dbsnp130_ chr1:17138003 G 42472447 1 17138003 G>>>T exon 42472447 N N N N N 4(10/39) N N N N 1 ns:CROCC-001_ chr1:53144787 G 70478409 1 53144787 C>>>A exon 70478409 N N N N N 7(5/8) N N N N 1 ns:ECHDC2-002_ chr1:46580950 G 72172845 1 46580950 C>>>T exon 72172845 N N N N N 11(3/6) N N N N 1 ns:AL122001.32-201_ chr1:201044320 G 79819020 1 201044320 G>>>C exon 79819020 N N N 2 N 2 N 12 N N 3 ns:JARID1B-201_ chr1:46441809 G 80094066 1 46441809 G>>>A exon 80094066 N N N N N 5 N N N N 1 ns:C1orf190-001_ns:C1orf190-201_ chr1:116029600 G 80094693 1 116029600 C>>>T exon 80094693 N N N N N 4 N N N N 1 ns:VANGL1-201_ns:VANGL1-001_ns:VANGL1-003_ns:VANGL1-002_ chr1:120341234 G 80096105 1 120341234 G>>>T exon 80096105 N N N N N 16 N N N N 1 ns:NOTCH2-001_ns:NOTCH2-201_ chr1:182990310 S? 80097875 1 182990310 A>>>C exon 80097875 N N N N N 7 N N N N 1 ns:EDEM3-201_ns:EDEM3-001_ chr1:246087386 S 80099191 1 246087386 A>>>G exon 80099191 N N N N N 4 N N N N 1 ns:TRIM58-001_ chr10:73191493 G 70485347 10 73191493 C>>>T exon 70485347 N N N N N 13(23/48) N N N N 1 ns:C10orf54-202_ns:C10orf54-201_ns:C10orf54-001_ chr10:32791967 G 80100124 10 32791967 T>>>G exon 80100124 N N N N N 11 N N N N 1 syn:CCDC7-202_ns:CCDC7-001_ns:CCDC7-002_ chr11:129569288 G 13879299 11 129569288 A>>>C exon 13879299 N N N N N 5 N N N N 1 ns:ST14-201_ chr11:7603599 S 70488133 11 7603599 C>>>G exon 70488133 N N N N N 8(6/29) N N N N 1 ns:PPFIBP2-201_ chr11:56706485 S 77422489 11 56706485 G>>>A exon 77422489 N N N N N 6(15/38) N N N N 1 ns:LRRC55-201_ chr11:1224207 G 80103121 11 1224207 C>>>T exon 80103121 N N N N N 4 N N N N 1 ns:MUC5B-201_ chr11:1224039 S? 80103400 11 1224039 C>>>T exon 80103400 N N N N N 6 N N N N 1 ns:MUC5B-201_ chr11:1229177 G 80104324 11 1229177 G>>>A exon 80104324 N N N N N 6 N N N N 1 ns:MUC5B-201_ chr11:1223826 S? 80104361 11 1223826 C>>>A exon 80104361 N N N N N 4 N N N N 1 ns:MUC5B-201_ chr11:60805915 G 80105629 11 60805915 A>>>G exon 80105629 N N N N N 12 N N 8 N 2 ns:VWCE-202_ chr11:64368563 S? 80106419 11 64368563 A>>>G exon 80106419 N N N N N 4 N N N N 1 ns:CDC42BPG-001_ chr12:8976719 S? 2393116 12 8976719 C>>>A exon 2393116 N N N N N 5 N N N N 1 ns:PHC1-201_an:dbsnp129_an:dbsnp130_ chr12:123392498 G 70495695 12 123392498 C>>>T exon 70495695 N N N N N 6(40/79) N N N N 1 ns:NCOR2-005_ns:NCOR2-001_ns:NCOR2-002_ns:NCOR2-202_ns:NCOR2-201_ chr12:2834804 S? 12 2834804 C>>>T exon 77436781 N N N N N 6(3/4) N N N N 1 ns:AC005841.3-201_ chr12:45060670 S 79835083 12 45060670 A>>>T exon 79835083 N N N 4 N 2 N N N N 2 ns:SLC38A2-202_ chr12:6808104 S? 80109098 12 6808104 A>>>C exon 80109098 N N N N N 4 N N N N 1 ns:LEPREL2-202_ chr12:55006974 G 80110727 12 55006974 T>>>G exon 80110727 N N N N N 8 N N N N 1 ns:PAN2-202_ns:PAN2-201_ chr12:49688626 G 80110793 12 49688626 T>>>G exon 80110793 N N N N N 17 N N N N 1 ns:SLC11A2-201_ns:SLC11A2-202_ns:SLC11A2-203_ chr13:23418413 G 2973339 13 23418413 C>>>T exon 2973339 N N N N N 7 N N N N 1 ns:AL445985.10-201_an:dbsnp129_an:dbsnp130_ chr13:18291364 G 80112702 13 18291364 C>>>A exon 80112702 N N N N N 14 N N N N 1 ns:AL391382.10-201_ chr13:35642859 S 80113176 13 35642859 C>>>T exon 80113176 N N N N N 12 N N N N 1 ns:SOHLH2-001_ chr13:49140635 G 80114774 13 49140635 T>>>C exon 80114774 N N N N N 9 N N N N 1 ns:EBPL-006_ chr14:104746991 G 43492614 14 104746991 G>>>A exon 43492614 N N N N N 5(45/93) N N N N 1 ns:BRF1-201_syn:BRF1-203_ chr14:35074753 F 70001446 14 35074753 G>>>T exon 70001446 4 N N N N N(59/252) N(27/61) N N N(6/26) 1 ns:INSM2-001_ chr14:63760959 G 70500400 14 63760959 G>>>A exon 70500400 N N N N N 8(56/120) N N N N 1 ns:SYNE2-201_ns:SYNE2-205_ns:SYNE2-206_ns:SYNE2-203_ns:SYNE2-001_ chr14:52090009 S? 80117773 14 52090009 T>>>C exon 80117773 N N N N N 4 N N N N 1 ns:GPR137C-201_ chr15:88411938 G 43495991 15 88411938 C>>>G exon 43495991 N N N N N 4(5/9) N N N N 1 ns:ZNF710-001_ chr15:73290280 S 70502527 15 73290280 G>>>A exon 70502527 N N N N N 5(4/17) N N N N 1 ns:C15orf39-002_ns:C15orf39-001_ chr15:39965300 G 80120579 15 39965300 C>>>T exon 80120579 N N N N N 8 N N N N 1 ns:SPTBN5-201_ chr15:79437641 G 80122094 15 79437641 T>>>C exon 80122094 N N N N N 18 N N N 14 2 ns:TMC3-201_ chr16:1509930 G 4192187 16 1509930 C>>>G exon 4192187 N N N N N 4(9/20) N N N N 1 ns:IFT140-001_ns:IFT140-201_an:dbsnp129_an:dbsnp130_ chr16:2082080 G 19238203 16 2082080 T>>>C exon 19238203 N N N N N 5 N N N N 1 ns:PKD1-201_ns:PKD1-202_ chr16:1993709 S 80122110 16 1993709 G>>>C exon 80122110 N N N N N 4 N N N N 1 ns:ZNF598-201_ chr16:71551332 G 80124859 16 71551332 A>>>G exon 80124859 N N N N N 4 N N N N 1 ns:ATBF1-001_ chr17:4647951 G 4647412 17 4647951 C>>>G exon 4647412 N N N N N 9(118/259) N N N N 1 ns:PSMB6-001_an:dbsnp129_an:dbsnp130_ chr17:41981737 G 70508662 17 41981737 C>>>T exon 70508662 N N N N N 43(8/23) N N N N 1 ns:LRRC37A2-201_ chr17:35436693 G 80126057 17 35436693 A>>>G exon 80126057 N N N N N 5 N N N N 1 ns:THRAP4-003_ns:THRAP4-001_ns:THRAP4-006_ns:THRAP4-002_ chr17:8237135 G 80126714 17 8237135 T>>>C exon 80126714 N N N N N 5 N N N N 1 ns:AC026130.3-001_ns:RNF222-201_ chr19:60976269 G 5639729 19 60976269 G>>>A exon 5639729 10 N N N N 27 44 N N N 3 ns:AC008749.6-201_an:dbsnp129_an:dbsnp130_ chr19:2962086 G 43508427 19 2962086 C>>>T exon 43508427 N N N N N 8 N N N N 1 ns:TLE2-201_ chr19:12739669 G 70511602 19 12739669 G>>>A exon 70511602 N N N N N 7(9/14) N N N N 1 ns:HOOK2-202_ns:HOOK2-201_ chr19:17908288 F 77463204 19 17908288 C>>>G exon 77463204 N N N N 4 N(9/38) N N N N 1 ns:CCDC124-201_ chr19:1438309 S 80130024 19 1438309 A>>>C exon 80130024 N N N N N 5 N N N N 1 ns:PCSK4-001_ chr19:40969557 S? 80131437 19 40969557 G>>>C exon 80131437 N N N N N 5 N N N N 1 syn:SNX26-204_ns:SNX26-201_ chr19:19515200 G 80131630 19 19515200 G>>>A exon 80131630 N N N N N 6 N N N N 1 ns:CILP2-201_ chr19:9438387 S 80132135 19 9438387 C>>>A exon 80132135 N N N N N 11 N N N N 1 ns:ZNF560-201_ chr19:5795798 G 80132875 19 5795798 G>>>T exon 80132875 N N N N N 9 N N N N 1 ns:FUT3-201_ns:FUT3-202_ chr2:232982753 G 6629969 2 232982753 C>>>G exon 6629969 N N N N N 4 N N N N 1 ns:ALPPL2-001_an:dbsnp129_an:dbsnp130_ chr2:127524516 S? 43515812 2 127524516 T>>>C exon 43515812 N N N N N 7(84/180) N N N N 1 ns:BIN1-006_ns:BIN1-007_ns:BIN1-011_ns:BIN1-001_ns:BIN1-002_ns:BIN1-005_ns:BIN1-003_ns:BIN1-004_ns:BIN1-008_ns:BIN1-012_ns:BIN1-010_ chr2:68215410 G 73236891 2 68215410 A>>>C exon 73236891 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 77373031 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_ chr2:29094306 G 80134894 2 29094306 G>>>A exon 80134894 N N N N N 5 N N N N 1 ns:FAM179A-003_ chr2:73193209 S? 80137145 2 73193209 A>>>G exon 80137145 N N N N N 4 N N N N 1 ns:RAB11FIP5-001_ns:RAB11FIP5-201_ chr2:165406009 G 80139243 2 165406009 T>>>G exon 80139243 N N N N N 4 N N N N 1 ns:COBLL1-201_ chr2:174909673 S? 80139592 2 174909673 A>>>C exon 80139592 N N N N N 4 N N N N 1 ns:AC018470.11-201_ns:AC018470.2-001_ chr2:241183222 S 80141553 2 241183222 T>>>G exon 80141553 N N N N N 4 N N N N 1 ns:CAPN10-001_ns:CAPN10-202_ns:CAPN10-204_ns:CAPN10-007_ns:CAPN10-201_syn:CAPN10-203_ns:CAPN10-005_ chr20:3513356 G 77487556 20 3513356 T>>>G exon 77487556 N N N N 11 N(15/42) N N N N(9/27) 1 ns:ATRN-001_ns:ATRN-002_ns:ATRN-201_ chr20:538569 G 80141697 20 538569 C>>>G exon 80141697 N N N N N 6 N N N N 1 ns:TCF15-001_ chr20:25703663 G 80141944 20 25703663 C>>>T exon 80141944 N N N N N 6 N N N N 1 ns:FAM182B-003_ chr20:773946 S? 80142574 20 773946 T>>>C exon 80142574 N N N N N 4 N N N N 1 ns:C20orf55-001_ns:C20orf55-003_ns:C20orf55-004_ns:C20orf55-002_ chr21:44784400 G 80144919 21 44784400 G>>>T exon 80144919 N N N N N 4 N N N N 1 ns:KRTAP10-1-001_ chr22:21806312 G 72216349 22 21806312 C>>>T exon 72216349 N N N N N 8(4/8) N N N N 1 ns:RTDR1-001_ chr22:23346941 G 76619275 22 23346941 C>>>G exon 76619275 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_ chr22:29281048 S? 80145130 22 29281048 C>>>G exon 80145130 N N N N N 4 N N N N 1 ns:GAL3ST1-005_ns:GAL3ST1-003_ns:GAL3ST1-004_ns:GAL3ST1-201_ns:GAL3ST1-001_ns:GAL3ST1-002_ chr22:42611498 S 80145192 22 42611498 G>>>T exon 80145192 N N N N N 7 N N N N 1 ns:PNPLA5-001_ns:PNPLA5-002_ chr22:19374890 G 80145405 22 19374890 G>>>C exon 80145405 N N N N N 8 N N N N 1 ns:POM121L4P-001_ chr22:35727880 G 80145498 22 35727880 T>>>C exon 80145498 N N N N N 9 N N N N 1 ns:C22orf33-002_ns:C22orf33-003_ns:C22orf33-001_ns:C22orf33-201_ chr22:29281049 S? 80145833 22 29281049 T>>>G exon 80145833 N N N N N 4 N N N N 1 ns:GAL3ST1-005_ns:GAL3ST1-003_ns:GAL3ST1-004_ns:GAL3ST1-201_ns:GAL3ST1-001_ns:GAL3ST1-002_ chr22:28215562 G 80145970 22 28215562 G>>>A exon 80145970 N N N N N 11 N 4 N N 2 ns:NEFH-001_ns:NEFH-201_ chr22:28991061 G 80146208 22 28991061 C>>>T exon 80146208 N N N N N 7 N N N N 1 ns:OSM-003_ns:OSM-001_ chr3:196995031 S? 43535019 3 196995031 C>>>A exon 43535019 N N N N N 4 7 N N N 2 ns:MUC4-001_an:dbsnp129_ chr3:196991856 G 69566486 3 196991856 G>>>A exon 69566486 N N N N N 9 N N N N 1 ns:MUC4-001_syn:MUC4-209_an:dbsnp129_ chr3:46730979 G 72218812 3 46730979 A>>>G exon 72218812 N N N N N 12(6/8) N N N N 1 ns:TSP50-001_ chr3:51950842 S? 80147813 3 51950842 G>>>C exon 80147813 N N N N N 4 N N N N 1 ns:RRP9-201_ chr3:52497295 G 80148644 3 52497295 A>>>C exon 80148644 N N N N N 4 N N N N 1 ns:NISCH-201_ chr3:196993103 G 80152168 3 196993103 C>>>T exon 80152168 N N N N N 15 N N N N 1 ns:MUC4-001_ chr3:195889614 S? 80152228 3 195889614 T>>>C exon 80152228 N N N N N 4 N N N N 1 ns:FAM43A-201_ chr4:104046244 G 8807075 4 104046244 G>>>T exon 8807075 N N N N N 11 N N N N 1 ns:NHEDC1-202_ns:NHEDC1-201_an:dbsnp130_ chr4:88756087 G 80156368 4 88756087 A>>>T exon 80156368 N N N N N 4 N N N N 1 ns:DSPP-202_ chr5:149550091 G 77519223 5 149550091 A>>>G exon 77519223 N N N N N 4(2/2) N N N N 1 ns:SLC6A7-001_ chr5:113725998 S 80164389 5 113725998 T>>>C exon 80164389 N N N N N 4 N N N N 1 ns:KCNN2-202_ chr5:171710112 S? 80166218 5 171710112 G>>>T exon 80166218 N N N N N 4 N N N N 1 ns:SH3PXD2B-201_ chr6:34934572 G 10223366 6 34934572 C>>>T exon 10223366 N N N N N 18(14/20) N N N N 1 ns:UHRF1BP1-001_ns:UHRF1BP1-201_an:dbsnp129_an:dbsnp130_ chr6:35813812 G 77523457 6 35813812 G>>>A exon 77523457 N N N N N 4(16/25) N N N N 1 ns:C6orf81-001_ns:C6orf81-002_ns:C6orf81-201_ chr6:126122491 S 80171892 6 126122491 G>>>T exon 80171892 N N N N N 4 N N N N 1 ns:HEY2-002_ns:HEY2-001_ chr7:75978278 G 11291537 7 75978278 G>>>A exon 11291537 N N N N N 14 N N N N 1 ns:UPK3B-002_ns:UPK3B-001_ns:UPK3B-003_an:dbsnp129_an:dbsnp130_ chr7:134499749 G 11535287 7 134499749 C>>>T exon 11535287 N N N N N 10(21/39) N N N N 1 ns:TMEM140-201_an:dbsnp129_an:dbsnp130_ chr7:23644402 G 79915339 7 23644402 T>>>G exon 79915339 N N N 9 N 3 N N N N 2 ns:AC006026.2-201_ chr7:33068800 S 80174472 7 33068800 C>>>A exon 80174472 N N N N N 4 N N N N 1 ns:NT5C3-001_ chr7:72486827 G 80175697 7 72486827 A>>>C exon 80175697 N N N N N 4 N N N N 1 ns:FZD9-001_ chr7:62863123 G 80175818 7 62863123 C>>>T exon 80175818 N N N N N 6 N N N N 1 ns:AC079355.6-201_ chr7:72383674 G 80176026 7 72383674 C>>>T exon 80176026 N N N N N 22 N N N N 1 ns:FKBP6-001_ chr8:8272037 G 77532709 8 8272037 A>>>T exon 77532709 N N N N N 4(3/5) N N N N 1 ns:AC068353.34-201_ chr8:22053446 G 80181489 8 22053446 T>>>G exon 80181489 N N N N N 7 N N N N 1 ns:REEP4-001_ns:REEP4-201_ chr9:43568251 G 12648359 9 43568251 A>>>C exon 12648359 N N N N N 8 N N N N 1 ns:FAM75A6-001_an:dbsnp130_ chr9:140190737 G 13104578 9 140190737 G>>>A exon 13104578 N N N N N 13 N N(2/2) N N 1 ns:AL591424.12-201_an:dbsnp129_an:dbsnp130_ chr9:130142867 G 70565627 9 130142867 C>>>T exon 70565627 N N N N N 6(4/11) N N N N 1 ns:SLC27A4-201_ns:SLC27A4-002_ chr9:138853317 S? 70566498 9 138853317 G>>>C exon 70566498 N N N N N 4(68/157) N N N N 1 ns:C9orf86-201_ns:C9orf86-009_ chr9:133342962 G 77533940 9 133342962 G>>>A exon 77533940 N N N N N 7(69/151) N N N N 1 ns:BAT2L-202_ns:BAT2L-001_ns:BAT2L-201_ chr9:89663302 S 80187480 9 89663302 C>>>T exon 80187480 N N N N N 8 N N N N 1 ns:AL160279.21-201_ chr9:83737540 G 80188043 9 83737540 G>>>T exon 80188043 N N N N N 27 N N N N 1 ns:AL158154.28-201_ chr9:131944088 G 80188669 9 131944088 C>>>T exon 80188669 N N N N N 8 N N N N 1 ns:AL360004.22-201_ chr9:131944052 G 80189708 9 131944052 A>>>G exon 80189708 N N N N N 6 N N N N 1 ns:AL360004.22-201_ chrX:75565707 G 70568341 X 75565707 G>>>A exon 70568341 N N N N N 9(7/7) N N N N 1 ns:MAGEE1-001_ chrX:44056769 S 80191751 X 44056769 A>>>C exon 80191751 N N N N N 16 N N N N 1 ns:EFHC2-201_ chrX:119384507 G 80192640 X 119384507 G>>>A exon 80192640 N N N N N 5 N N N N 1 ns:ATP1B4-002_ns:ATP1B4-001_ chrX:140821613 G 80192963 X 140821613 T>>>C exon 80192963 N N N N N 8 N N N N 1 ns:MAGEC1-001_syn:MAGEC1-201_syn:MAGEC1-002_ chrX:152949958 G 80194991 X 152949958 G>>>A exon 80194991 N N N N N 7 N N N N 1 ns:MECP2-001_ns:MECP2-202_ns:MECP2-201_ns:MECP2-002_ chrY:12985496 F 79543223 Y 12985496 C>>>T exon 79543223 3 N N N N 4 N N N N 2 ns:GYG2P-004_ chrY:12985501 F 79543724 Y 12985501 T>>>A exon 79543724 3 N N N N 4 N N N N 2 ns:GYG2P-004_