regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFLAR_chr2_201111164_201181687 | 201139094 | ATTC | A | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01071.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0022a0001c0002t0023a0001c0002t0052 | a0001c0002t0022g0085a0001c0002t0022g0086a0001c0002t0023g0084others(2): Show | 5 | 234 | 0.0214 | -3 | c.524 others(20): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFLAR_chr2_201111164_201181687 | 201158852 | CATT | C | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0078a0001c0001t0097others(1): Show | a0001c0001t0064g0044a0001c0001t0078g0007a0001c0001t0097g0199others(1): Show | 4 | 234 | 0.0171 | -3 | c.794 others(20): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFLAR_chr2_201111164_201181687 | 201161738 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(84): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0033others(53): Show | a0001c0001t0001g0185a0001c0001t0005g0131a0001c0001t0033g0049others(82): Show | 87 | 234 | 0.3718 | -3 | c.130 others(20): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFLAR_chr2_201111164_201181687 | 201165241 | CTTA | C | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00735.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(26): Show | a0001c0001t0002g0013a0001c0001t0002g0076a0001c0001t0002g0094others(40): Show | 44 | 234 | 0.1880 | -3 | c.*13 others(14): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 10/10 | 1313 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CFLAR_chr2_201111164_201181687 | 201167084 | TTTC | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(92): Show |
a0001a0002a0003 | a0001c0002a0001c0007a0002c0004others(1): Show | a0001c0002t0003a0001c0002t0007a0001c0002t0008others(57): Show | a0001c0002t0003g0003a0001c0002t0003g0080a0001c0002t0003g0087others(89): Show | 95 | 234 | 0.4060 | -3 | c.*31 others(14): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 10/10 | 3114 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CFP_chrX_47618282_47634930 | 47623143 | CACT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 303 | 0.0033 | -3 | c.*11 others(14): Show |
CFP | ENSG00000126759.14 | transcript | ENST00000396992.8 | protein_coding | 138 | chrX | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117518054 | AGTT | A | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(9): Show |
a0001a0009a0013 | a0001c0003a0001c0008a0009c0015others(1): Show | a0001c0003t0003a0001c0008t0003a0001c0008t0010others(2): Show | a0001c0003t0003g0116a0001c0003t0003g0134a0001c0003t0003g0155others(9): Show | 12 | 202 | 0.0594 | -3 | c.273 others(20): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117529513 | TAAA | T | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0004t0001others(1): Show | a0001c0001t0002g0120a0001c0001t0002g0123a0001c0001t0002g0179others(4): Show | 7 | 202 | 0.0347 | -3 | c.274 others(20): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117601970 | CAAT | C | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(24): Show |
a0001a0009a0013 | a0001c0003a0001c0005a0001c0008others(2): Show | a0001c0003t0003a0001c0005t0006a0001c0008t0003others(3): Show | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(23): Show | 27 | 202 | 0.1337 | -3 | c.262 others(20): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117661983 | GAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(81): Show |
a0001a0002a0008others(6): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(17): Show | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(80): Show | 84 | 202 | 0.4158 | -3 | c.396 others(22): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CGAS_chr6_73418711_73457297 | 73435778 | TAAA | T | intron_variant | MODIFIER | HG01070.hp2 HG01256.hp2 HG01496.hp2 others(9): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0005 | a0001c0002t0007a0001c0002t0024a0001c0002t0035others(8): Show | a0001c0002t0007g0051a0001c0002t0007g0069a0001c0002t0024g0099others(9): Show | 12 | 410 | 0.0293 | -3 | c.111 others(22): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73446329 | CAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00621.hp1 others(87): Show |
a0001a0004a0005 | a0001c0002a0001c0003a0001c0009others(4): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0007others(32): Show | a0001c0002t0002g0217a0001c0002t0002g0218a0001c0002t0002g0306others(80): Show | 90 | 410 | 0.2195 | -3 | c.658 others(18): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
CGA_chr6_87080498_87100106 | 87088235 | AAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(167): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0016others(40): Show | 170 | 420 | 0.4048 | -3 | c.-7- others(14): Show |
CGA | ENSG00000135346.9 | transcript | ENST00000627148.3 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
CGA_chr6_87080498_87100106 | 87092742 | CTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02486.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0014a0001c0002t0001g0031a0001c0002t0001g0032others(5): Show | 13 | 420 | 0.0310 | -3 | c.-8+ others(18): Show |
CGA | ENSG00000135346.9 | transcript | ENST00000627148.3 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
CGB1_chr19_49030569_49041895 | 49035137 | ATAT | A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01358.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002a0002c0002t0001g0003 | 9 | 376 | 0.0239 | -3 | c.*47 others(12): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 431 | chr19 | TogoVar | ||||||
CGB3_chr19_49017869_49029333 | 49025202 | CTAT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(166): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0008a0001c0001t0001g0041a0001c0001t0002g0002others(15): Show | 169 | 391 | 0.4322 | -3 | c.-12 others(14): Show |
CGB3 | ENSG00000104827.12 | transcript | ENST00000357383.4 | protein_coding | 870 | chr19 | TogoVar | ||||||
CGB3_chr19_49017869_49029333 | 49025212 | TATC | T | upstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01070.hp2 others(66): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(14): Show | a0001c0001t0002g0002a0001c0001t0003g0003a0001c0001t0007g0011others(17): Show | 69 | 391 | 0.1765 | -3 | c.-12 others(14): Show |
CGB3 | ENSG00000104827.12 | transcript | ENST00000357383.4 | protein_coding | 880 | chr19 | TogoVar | ||||||
CGB7_chr19_49049274_49062749 | 49051983 | CAAA | C | downstream_gene_variant | MODIFIER | HG01496.hp2 HG02451.hp2 HG02647.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0008g0014others(5): Show | 14 | 422 | 0.0332 | -3 | c.*23 others(14): Show |
CGB7 | ENSG00000196337.14 | transcript | ENST00000684222.1 | protein_coding | 2290 | chr19 | TogoVar | ||||||
CGB8_chr19_49042638_49054111 | 49051983 | CAAA | C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01496.hp2 HG02451.hp2 others(11): Show |
a0001a0005 | a0001c0001a0001c0007a0005c0004 | a0001c0001t0001a0001c0007t0006a0005c0004t0002 | a0001c0001t0001g0001a0001c0007t0006g0034a0005c0004t0002g0026 | 14 | 394 | 0.0355 | -3 | c.-32 others(14): Show |
CGB8 | ENSG00000213030.6 | transcript | ENST00000448456.4 | protein_coding | 2873 | chr19 | TogoVar | ||||||
CGGBP1_chr3_88046950_88064005 | 88048549 | AAAT | A | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01071.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0008a0001c0001t0012g0016 | 12 | 358 | 0.0335 | -3 | c.*69 others(14): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 3400 | chr3 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57372616 | ATCT | A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG03098.hp2 HG03225.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0003c0003t0001 | a0001c0001t0001g0139a0001c0001t0004g0163a0003c0003t0001g0162 | 3 | 294 | 0.0102 | -3 | c.-39 others(14): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3888 | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57378363 | GTTT | G | intron_variant | MODIFIER | HG00438.hp1 HG01109.hp1 HG01123.hp1 others(31): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0165a0001c0001t0001g0185a0001c0001t0002g0182others(31): Show | 34 | 294 | 0.1157 | -3 | c.-16 others(20): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57391952 | AAAC | A | intron_variant | MODIFIER | HG00323.hp2 HG01255.hp1 HG02055.hp2 others(19): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0039a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(15): Show | a0001c0001t0001g0044a0001c0001t0001g0126a0001c0001t0001g0127others(19): Show | 22 | 294 | 0.0748 | -3 | c.-16 others(22): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57394102 | TTTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(50): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0005a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0059a0001c0001t0001g0065a0001c0001t0001g0073others(50): Show | 53 | 294 | 0.1803 | -3 | c.-16 others(22): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57396277 | GTTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(115): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0001c0011others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0049a0001c0001t0001g0065a0001c0001t0001g0071others(115): Show | 118 | 294 | 0.4014 | -3 | c.-16 others(22): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57441073 | CAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(118): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0011others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(39): Show | a0001c0001t0001g0049a0001c0001t0001g0059a0001c0001t0001g0065others(117): Show | 121 | 294 | 0.4116 | -3 | c.169 others(20): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57442182 | GAAA | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(67): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0065a0001c0001t0001g0073a0001c0001t0001g0078others(67): Show | 70 | 294 | 0.2381 | -3 | c.169 others(20): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57468234 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(136): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0005a0001c0015others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(52): Show | a0001c0001t0001g0049a0001c0001t0001g0080a0001c0001t0001g0118others(135): Show | 139 | 294 | 0.4728 | -3 | c.240 others(22): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57473874 | ACTT | A | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp2 HG01071.hp1 others(28): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0129a0001c0001t0002g0001a0001c0001t0002g0130others(27): Show | 31 | 294 | 0.1054 | -3 | c.240 others(24): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57475651 | ATCT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(60): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0059a0001c0001t0001g0073a0001c0001t0001g0102others(60): Show | 63 | 294 | 0.2143 | -3 | c.240 others(24): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57516158 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(77): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0011others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0059a0001c0001t0001g0073a0001c0001t0001g0104others(76): Show | 80 | 294 | 0.2721 | -3 | c.240 others(20): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGN_chr1_151506387_151543692 | 151526181 | CTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG02896.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0032a0002c0002t0002a0003c0003t0008 | a0001c0001t0032g0118a0002c0002t0002g0119a0003c0003t0008g0041others(2): Show | 6 | 382 | 0.0157 | -3 | c.176 others(20): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CGRRF1_chr14_54504906_54544292 | 54523541 | CCTT | C | intron_variant | MODIFIER | HG00597.hp1 HG01099.hp1 HG01243.hp1 others(39): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0158a0002c0002t0002g0008a0002c0002t0002g0012others(27): Show | 42 | 338 | 0.1243 | -3 | c.244 others(18): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
CHAC1_chr15_40948471_40961512 | 40954575 | GTTT | G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00673.hp1 others(49): Show |
a0001a0004a0005 | a0001c0001a0004c0008a0005c0007 | a0001c0001t0002a0004c0008t0002a0005c0007t0002 | a0001c0001t0002g0002a0001c0001t0002g0024a0001c0001t0002g0025others(2): Show | 52 | 420 | 0.1238 | -3 | c.267 others(18): Show |
CHAC1 | ENSG00000128965.13 | transcript | ENST00000617768.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHAC2_chr2_53762804_53780196 | 53770498 | TAAA | T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00621.hp2 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0020a0001c0001t0001g0022others(17): Show | 77 | 426 | 0.1808 | -3 | c.136 others(20): Show |
CHAC2 | ENSG00000143942.5 | transcript | ENST00000295304.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CHADL_chr22_41224513_41245931 | 41234364 | CATT | C | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG01070.hp1 others(10): Show |
a0001a0009 | a0001c0001a0001c0012a0009c0007 | a0001c0001t0001a0001c0012t0001a0009c0007t0001 | a0001c0001t0001g0030a0001c0001t0001g0054a0001c0001t0001g0151others(7): Show | 13 | 414 | 0.0314 | -3 | c.226 others(20): Show |
CHADL | ENSG00000100399.16 | transcript | ENST00000216241.14 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CHADL_chr22_41224513_41245931 | 41234398 | ATTG | A | intron_variant | MODIFIER | HG01099.hp2 HG02258.hp1 HG02965.hp1 others(3): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0002 | a0002c0003t0001g0162a0002c0004t0002g0034a0002c0004t0002g0196others(1): Show | 6 | 414 | 0.0145 | -3 | c.226 others(20): Show |
CHADL | ENSG00000100399.16 | transcript | ENST00000216241.14 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4413068 | CTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG02080.hp2 NA18747.hp2 others(16): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003a0002c0002t0002g0015a0002c0002t0002g0033others(15): Show | 19 | 384 | 0.0495 | -3 | c.960 others(20): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1A_chr19_4397640_4448397 | 4427136 | CTTT | C | intron_variant | MODIFIER | HG00621.hp2 HG01175.hp1 HG01192.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0155a0001c0001t0003g0326a0001c0001t0003g0328others(8): Show | 11 | 384 | 0.0287 | -3 | c.137 others(22): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1A_chr19_4397640_4448397 | 4435087 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(153): Show |
a0001a0008 | a0001c0001a0001c0007a0001c0020others(4): Show | a0001c0001t0001a0001c0007t0001a0001c0020t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(148): Show | 156 | 384 | 0.4063 | -3 | c.267 others(22): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36381110 | CTTT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0001g0097others(27): Show | 31 | 346 | 0.0896 | -3 | c.-44 others(14): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 4281 | chr21 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36382538 | CTTT | C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01361.hp2 HG01943.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0016a0001c0001t0033 | a0001c0001t0008g0043a0001c0001t0008g0044a0001c0001t0008g0045others(6): Show | 9 | 346 | 0.0260 | -3 | c.-29 others(14): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 2853 | chr21 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36382694 | GTTA | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp1 others(82): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0011others(80): Show | 85 | 346 | 0.2457 | -3 | c.-28 others(14): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 2697 | chr21 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36403455 | TAAA | T | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01106.hp1 others(31): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0299a0001c0001t0001g0303others(30): Show | 34 | 346 | 0.0983 | -3 | c.757 others(18): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36404732 | CTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG01167.hp2 others(33): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0041a0001c0001t0001g0050a0001c0001t0001g0061others(32): Show | 36 | 346 | 0.1041 | -3 | c.757 others(20): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAMP1_chr13_114309503_114332322 | 114312959 | AAAG | A | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0018 | 3 | 414 | 0.0073 | -3 | c.-18 others(14): Show |
CHAMP1 | ENSG00000198824.8 | transcript | ENST00000361283.4 | protein_coding | 1543 | chr13 | TogoVar | ||||||
CHAMP1_chr13_114309503_114332322 | 114321086 | CTTT | C | splice_region_variant others(1): Show |
LOW | HG00733.hp2 HG01167.hp2 HG01169.hp1 others(36): Show |
a0001a0002 | a0001c0002a0001c0010a0001c0014others(1): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0008others(4): Show | a0001c0002t0001g0007a0001c0002t0001g0016a0001c0002t0001g0055others(19): Show | 39 | 414 | 0.0942 | -3 | c.-17 others(16): Show |
CHAMP1 | ENSG00000198824.8 | transcript | ENST00000361283.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49636957 | CTTA | C | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp1 HG01243.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0019a0001c0001t0003g0037a0001c0001t0003g0255others(3): Show | 7 | 418 | 0.0168 | -3 | c.111 others(22): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49638149 | GTCT | G | intron_variant | MODIFIER | HG01081.hp1 HG01358.hp2 HG02698.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0030a0002c0002 | a0001c0001t0007a0001c0001t0008a0001c0030t0004others(1): Show | a0001c0001t0007g0181a0001c0001t0008g0299a0001c0030t0004g0316others(1): Show | 4 | 418 | 0.0096 | -3 | c.111 others(22): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49649866 | ATTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0011others(12): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(22): Show | a0001c0001t0003g0353a0001c0001t0004g0006a0001c0001t0004g0007others(47): Show | 55 | 418 | 0.1316 | -3 | c.151 others(20): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |