view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLTCL1_chr22_19174473_19296719 | 19202547 | T | TCATCCAC others(99): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02083.hp1 HG02735.hp2 others(10): Show |
a0005a0014 | a0005c0007a0014c0016 | a0005c0007t0006a0014c0016t0006 | a0005c0007t0006g0298 a0005c0007t0006g0300 a0005c0007t0006g0301 others(10): Show |
13 | 346 | 0.0376 | 106 | c.360 others(125): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
CLUAP1_chr16_3496004_3544048 | 3529841 | T | TATAATAT others(99): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03471.hp2 |
a0006 | a0006c0007 | a0006c0007t0014 | a0006c0007t0014g0010 | 2 | 382 | 0.0052 | 106 | c.929 others(121): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87156273 | G | GTGTGTGT others(99): Show |
intron_variant | MODIFIER | HG01257.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0053 |
2 | 152 | 0.0132 | 106 | c.432 others(125): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151743028 | G | GTGTATAT others(99): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0110 | 1 | 336 | 0.0030 | 106 | c.590 others(119): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | chrX | TogoVar | |||||||
CNN2_chr19_1021608_1044065 | 1034359 | G | CGTGTCTG others(99): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0236 | 1 | 390 | 0.0026 | 106 | c.390 others(123): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133762 | C | CCTCTCTC others(99): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 223 | 0.0045 | 106 | c.-42 others(117): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3999 | chr19 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133769 | C | CTCTTCCT others(99): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 223 | 0.0045 | 106 | c.-42 others(117): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3992 | chr19 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133807 | C | CCTCTCCA others(99): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 223 | 0.0045 | 106 | c.-42 others(117): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3954 | chr19 | TogoVar | |||||||
CNOT6L_chr4_77708387_77824368 | 77819049 | G | GACACACA others(99): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0305 | 1 | 328 | 0.0031 | 106 | c.5+2 others(117): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43644791 | C | CACGAGAG others(99): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0360 | 1 | 384 | 0.0026 | 106 | c.264 others(121): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43644822 | A | AGACAGAG others(99): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 384 | 0.0026 | 106 | c.264 others(121): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
COL19A1_chr6_69861556_70217468 | 69921395 | C | CATATATA others(99): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0069 | 1 | 182 | 0.0055 | 106 | c.267 others(123): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098668 | T | TACATATG others(99): Show |
intron_variant | MODIFIER | HG03471.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0002 a0001c0001t0012g0003 |
2 | 264 | 0.0076 | 106 | c.181 others(125): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110219856 | G | GTATATAT others(99): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0036 | a0001c0036t0003 | a0001c0036t0003g0135 | 1 | 344 | 0.0029 | 106 | c.145 others(123): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134769757 | T | TACCCCTC others(99): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG02109.hp2 |
a0001 | a0001c0001a0001c0068a0001c0072 | a0001c0001t0001a0001c0068t0004a0001c0072t0003 | a0001c0001t0001g0125 a0001c0068t0004g0240 a0001c0072t0003g0009 |
3 | 272 | 0.0110 | 106 | c.228 others(125): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 25/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116158501 | T | TCTCCTCT others(99): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293 | 1 | 350 | 0.0029 | 106 | c.510 others(125): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COPE_chr19_18894514_18924387 | 18902768 | G | GAAAGAAA others(99): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02257.hp1 HG02922.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0068 a0002c0003t0001g0124 a0002c0003t0001g0147 |
3 | 330 | 0.0091 | 106 | c.735 others(121): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | |||||||
COPE_chr19_18894514_18924387 | 18902768 | G | GAAGGAAA others(99): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0250 | 1 | 330 | 0.0030 | 106 | c.735 others(121): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | |||||||
COPE_chr19_18894514_18924387 | 18902821 | G | GAAAGGAA others(99): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0169 | 1 | 330 | 0.0030 | 106 | c.735 others(121): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | |||||||
COPE_chr19_18894514_18924387 | 18902825 | G | GAAGGAAA others(99): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0200 | 1 | 330 | 0.0030 | 106 | c.735 others(121): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131792648 | T | TATATATA others(99): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0068 | 1 | 94 | 0.0106 | 106 | c.181 others(125): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89588165 | A | ACCCACAG others(99): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0339 | 1 | 348 | 0.0029 | 106 | c.928 others(121): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49702114 | T | TTATTTAT others(99): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 350 | 0.0029 | 106 | c.693 others(121): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28560883 | C | CGTGTGCG others(99): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0093 | 1 | 198 | 0.0051 | 106 | c.292 others(123): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CRELD2_chr22_49913634_49932537 | 49926713 | C | CCCCACCC others(99): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18976.hp1 |
a0001a0016 | a0001c0003a0016c0020 | a0001c0003t0002a0016c0020t0002 | a0001c0003t0002g0193 a0016c0020t0002g0192 |
2 | 324 | 0.0062 | 106 | c.101 others(123): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240923627 | G | GTCCCCAC others(99): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01952.hp2 HG01978.hp2 others(20): Show |
a0004a0006a0009others(3): Show | a0004c0053a0006c0007a0006c0049others(5): Show | a0004c0053t0003a0006c0007t0001a0006c0007t0003others(7): Show | a0004c0053t0003g0218 a0006c0007t0001g0093 a0006c0007t0001g0094 others(20): Show |
23 | 350 | 0.0657 | 106 | c.488 others(121): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240923701 | C | CACACTAA others(99): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03540.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0132 a0002c0001t0001g0127 |
2 | 350 | 0.0057 | 106 | c.488 others(123): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240923783 | G | GCCCCCCA others(99): Show |
intron_variant | MODIFIER | HG00741.hp1 HG03225.hp2 |
a0014 | a0014c0014 | a0014c0014t0001 | a0014c0014t0001g0028 a0014c0014t0001g0108 |
2 | 350 | 0.0057 | 106 | c.488 others(123): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647246 | T | TCAATCCT others(99): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 276 | 0.0036 | 106 | c.*51 others(117): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1902 | chr15 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647477 | C | CCCTCCTC others(99): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0120 a0001c0001t0007g0219 |
2 | 276 | 0.0073 | 106 | c.*53 others(117): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2133 | chr15 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3448341 | G | GAAGGAAG others(99): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0003 | a0003c0099 | a0003c0099t0014 | a0003c0099t0014g0020 | 1 | 126 | 0.0079 | 106 | c.156 others(127): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
CSPP1_chr8_67059392_67201614 | 67159963 | T | TCCTTCTT others(99): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0142 | 1 | 158 | 0.0063 | 106 | c.253 others(123): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 21/30 | chr8 | TogoVar | |||||||
CST7_chr20_24944269_24964928 | 24957065 | G | GGGGGGCA others(99): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02965.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0012 | a0001c0001t0010g0102 a0001c0001t0010g0104 a0001c0001t0012g0103 |
3 | 350 | 0.0086 | 106 | c.71- others(119): Show |
CST7 | ENSG00000077984.6 | transcript | ENST00000480798.2 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
CST7_chr20_24944269_24964928 | 24957065 | G | GGGGGGCA others(99): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0097 | 1 | 350 | 0.0029 | 106 | c.71- others(119): Show |
CST7 | ENSG00000077984.6 | transcript | ENST00000480798.2 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
CTBS_chr1_84544611_84579440 | 84574510 | A | AGGGCGGG others(99): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0025 | 1 | 340 | 0.0029 | 106 | c.-96 others(113): Show |
CTBS | ENSG00000117151.13 | transcript | ENST00000370630.6 | protein_coding | 71 | chr1 | TogoVar | |||||||
CTSS_chr1_150725188_150770778 | 150744468 | T | TTTATATA others(99): Show |
intron_variant | MODIFIER | HG02897.hp2 HG02976.hp1 HG03209.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0037 a0002c0002t0004g0041 a0002c0002t0004g0045 |
3 | 344 | 0.0087 | 106 | c.896 others(123): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
CYLC1_chrX_83856146_83891698 | 83878434 | A | AATATATA others(99): Show |
intron_variant | MODIFIER | NA18966.hp1 NA19064.hp1 NA19082.hp1 others(1): Show |
a0001a0012 | a0001c0001a0012c0012 | a0001c0001t0001a0012c0012t0001 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 others(1): Show |
4 | 208 | 0.0192 | 106 | c.192 others(125): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CYP2S1_chr19_41188219_41212539 | 41205584 | C | CAAGCAGA others(99): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0178 | 1 | 422 | 0.0024 | 106 | c.116 others(123): Show |
CYP2S1 | ENSG00000167600.14 | transcript | ENST00000310054.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15912711 | G | GTGTGTGT others(99): Show |
3_prime_UTR_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0001 | a0002c0001t0193 | a0002c0001t0193g0217 | 1 | 386 | 0.0026 | 106 | c.*10 others(117): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 12/12 | 1020 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15912715 | G | GTGTGTGT others(99): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0001 | a0002c0001t0157 | a0002c0001t0157g0168 | 1 | 386 | 0.0026 | 106 | c.*10 others(117): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 12/12 | 1016 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15912733 | G | GTATATGT others(99): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0001 | a0002c0001t0158 | a0002c0001t0158g0344 | 1 | 386 | 0.0026 | 106 | c.*99 others(115): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 12/12 | 998 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15912747 | G | GTGTGTGT others(99): Show |
3_prime_UTR_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0001 | a0002c0001t0192 | a0002c0001t0192g0216 | 1 | 386 | 0.0026 | 106 | c.*98 others(115): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 12/12 | 984 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15912771 | G | GTGTATAT others(99): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0001 | a0002c0001t0082 | a0002c0001t0082g0053 | 1 | 386 | 0.0026 | 106 | c.*96 others(115): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 12/12 | 960 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15912771 | G | GTGTGTAT others(99): Show |
3_prime_UTR_variant | MODIFIER | HG02717.hp2 | a0004 | a0004c0007 | a0004c0007t0178 | a0004c0007t0178g0206 | 1 | 386 | 0.0026 | 106 | c.*96 others(115): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 12/12 | 960 | chr19 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241767132 | G | GGGAGTAG others(99): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0004 | a0004c0005 | a0004c0005t0010 | a0004c0005t0010g0040 | 1 | 412 | 0.0024 | 106 | c.130 others(123): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DAPK1_chr9_87492867_87713634 | 87606599 | C | CCCTCCCT others(99): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0104 | 1 | 236 | 0.0042 | 106 | c.284 others(123): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DAW1_chr2_227866631_227929344 | 227911239 | C | CATATATA others(99): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 340 | 0.0029 | 106 | c.973 others(123): Show |
DAW1 | ENSG00000123977.10 | transcript | ENST00000309931.3 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DAZAP1_chr19_1402586_1440684 | 1419970 | A | AGTCACGG others(99): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02055.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0002g0145 a0001c0001t0002g0269 a0001c0001t0002g0270 others(17): Show |
20 | 374 | 0.0535 | 106 | c.304 others(123): Show |
DAZAP1 | ENSG00000071626.17 | transcript | ENST00000233078.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DAZAP1_chr19_1402586_1440684 | 1419970 | A | AGTCACGG others(99): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0252 a0001c0001t0002g0179 a0001c0001t0009g0174 |
3 | 374 | 0.0080 | 106 | c.304 others(123): Show |
DAZAP1 | ENSG00000071626.17 | transcript | ENST00000233078.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DAZAP1_chr19_1402586_1440684 | 1419970 | A | AGTCACGG others(99): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0163 | 1 | 374 | 0.0027 | 106 | c.304 others(123): Show |
DAZAP1 | ENSG00000071626.17 | transcript | ENST00000233078.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |