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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFI_chr4_109735695_109806999 | 109757823 | T | TTTTAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(335): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(331): Show | 338 | 354 | 0.9548 | 5 | c.884 others(18): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 6/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109762189 | T | TAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG00735.hp2 HG00741.hp1 others(32): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0058a0001c0001t0001g0153a0001c0001t0001g0159others(32): Show | 35 | 354 | 0.0989 | 5 | c.483 others(20): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 3/12 | chr4 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34709787 | C | CAAAAA | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(145): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(16): Show | a0001c0001t0003g0003a0001c0001t0003g0055a0001c0001t0003g0072others(23): Show | 148 | 431 | 0.3434 | 5 | c.*30 others(16): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4/4 | 3077 | chr14 | TogoVar | |||||
CFLAR_chr2_201111164_201181687 | 201114047 | T | TATATA | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01074.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(2): Show | a0001c0001t0001g0133a0001c0001t0001g0187a0001c0001t0002g0163others(4): Show | 7 | 234 | 0.0299 | 5 | c.-25 others(16): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2116 | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201132430 | A | AAATAT | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp1 NA20752.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0064a0001c0002t0021a0001c0002t0127 | a0001c0001t0064g0044a0001c0002t0021g0066a0001c0002t0127g0027 | 3 | 234 | 0.0128 | 5 | c.282 others(20): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFLAR_chr2_201111164_201181687 | 201134640 | T | TTAAAA | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01071.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0066a0001c0001t0093a0001c0001t0094others(12): Show | a0001c0001t0066g0196a0001c0001t0093g0134a0001c0001t0094g0012others(18): Show | 22 | 234 | 0.0940 | 5 | c.388 others(22): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFP_chrX_47618282_47634930 | 47621323 | T | TTTTTC | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00733.hp2 others(62): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0048a0001c0001t0001g0050a0001c0001t0001g0054others(22): Show | 65 | 303 | 0.2145 | 5 | c.*29 others(16): Show |
CFP | ENSG00000126759.14 | transcript | ENST00000396992.8 | protein_coding | 1958 | chrX | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117545984 | A | AATTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(70): Show |
a0001a0004a0007others(5): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(70): Show | 73 | 202 | 0.3614 | 5 | c.121 others(24): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117569645 | G | GAGAAA | intron_variant | MODIFIER | NA18988.hp1 NA19011.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0024 | 3 | 202 | 0.0149 | 5 | c.158 others(24): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CGAS_chr6_73418711_73457297 | 73426281 | C | CAAAAT | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG01109.hp1 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0021a0002c0005others(3): Show | a0001c0003t0004a0001c0003t0009a0001c0003t0010others(9): Show | a0001c0003t0004g0056a0001c0003t0009g0324a0001c0003t0010g0014others(16): Show | 21 | 410 | 0.0512 | 5 | c.121 others(22): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73426329 | T | TAAATG | intron_variant | MODIFIER | HG01109.hp1 HG02717.hp1 HG03516.hp2 others(2): Show |
a0002a0003a0009 | a0002c0005a0003c0007a0009c0020 | a0002c0005t0009a0002c0005t0028a0003c0007t0009others(1): Show | a0002c0005t0009g0129a0002c0005t0028g0128a0002c0005t0028g0131others(2): Show | 5 | 410 | 0.0122 | 5 | c.121 others(22): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73426349 | G | GATAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(44): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0006a0002c0001others(5): Show | a0001c0003t0005a0001c0003t0036a0001c0006t0003others(7): Show | a0001c0003t0005g0203a0001c0003t0005g0204a0001c0003t0036g0040others(39): Show | 47 | 410 | 0.1146 | 5 | c.121 others(22): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73450097 | G | GAGAGA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(135): Show |
a0001a0002a0007others(1): Show | a0001c0003a0002c0001a0002c0005others(4): Show | a0001c0003t0001a0002c0001t0001a0002c0001t0005others(25): Show | a0001c0003t0001g0265a0002c0001t0001g0006a0002c0001t0001g0007others(120): Show | 138 | 410 | 0.3366 | 5 | c.657 others(22): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73453169 | C | CACAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(278): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0006others(14): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0007others(69): Show | a0001c0002t0002g0001a0001c0002t0002g0002a0001c0002t0002g0024others(244): Show | 281 | 410 | 0.6854 | 5 | c.-98 others(14): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 873 | chr6 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02258.hp1 others(17): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0006others(1): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0008others(7): Show | a0001c0002t0002g0002a0001c0002t0006g0120a0001c0002t0006g0124others(13): Show | 20 | 410 | 0.0488 | 5 | c.-13 others(16): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | ||||||
CGA_chr6_87080498_87100106 | 87090637 | A | ATTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp1 HG01516.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018a0001c0001t0001g0045a0001c0001t0001g0112others(2): Show | 8 | 420 | 0.0191 | 5 | c.-7- others(20): Show |
CGA | ENSG00000135346.9 | transcript | ENST00000627148.3 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
CGB1_chr19_49030569_49041895 | 49036877 | T | TTCCCC | 5_prime_UTR_variant | MODIFIER | HG00597.hp1 HG02027.hp1 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0016 | 3 | 376 | 0.0080 | 5 | c.-17 others(14): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 1/3 | 167 | chr19 | TogoVar | |||||
CGB5_chr19_49038848_49050311 | 49047250 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG01071.hp2 HG02055.hp2 HG02145.hp2 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 10 | 382 | 0.0262 | 5 | c.*19 others(16): Show |
CGB5 | ENSG00000189052.7 | transcript | ENST00000301408.7 | protein_coding | 1940 | chr19 | TogoVar | ||||||
CGB7_chr19_49049274_49062749 | 49060036 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00735.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0040a0002c0002t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0040g0064a0002c0002t0003g0003others(4): Show | 28 | 422 | 0.0664 | 5 | c.-39 others(16): Show |
CGB7 | ENSG00000196337.14 | transcript | ENST00000684222.1 | protein_coding | 2288 | chr19 | TogoVar | ||||||
CGB8_chr19_49042638_49054111 | 49047250 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0003 | 9 | 394 | 0.0228 | 5 | c.*40 others(14): Show |
CGB8 | ENSG00000213030.6 | transcript | ENST00000448456.4 | protein_coding | 387 | chr19 | TogoVar | ||||||
CGGBP1_chr3_88046950_88064005 | 88050344 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01071.hp2 HG01981.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0035 | a0001c0001t0003g0002a0001c0001t0012g0016a0001c0001t0035g0058 | 10 | 358 | 0.0279 | 5 | c.*51 others(16): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 1605 | chr3 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57437619 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01070.hp1 others(18): Show |
a0001a0004a0007others(3): Show | a0001c0001a0004c0004a0007c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0139a0001c0001t0001g0232a0001c0001t0001g0248others(18): Show | 21 | 294 | 0.0714 | 5 | c.-15 others(20): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57464670 | T | TTTTCC | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG01070.hp1 others(34): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0040others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(17): Show | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0001t0001g0078others(34): Show | 37 | 294 | 0.1259 | 5 | 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 | 57498245 | G | GTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp1 HG00741.hp1 others(36): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0065a0001c0001t0001g0071a0001c0001t0001g0082others(36): Show | 39 | 294 | 0.1327 | 5 | c.240 others(26): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGN_chr1_151506387_151543692 | 151527951 | T | TATATA | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG03579.hp1 |
a0003 | a0003c0003 | a0003c0003t0008 | a0003c0003t0008g0041a0003c0003t0008g0181 | 3 | 382 | 0.0079 | 5 | c.189 others(22): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27105550 | T | TTTTTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(331): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(305): Show | 334 | 352 | 0.9489 | 5 | c.-11 others(22): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27107254 | T | TTTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(122): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(8): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0002g0212others(110): Show | 125 | 352 | 0.3551 | 5 | c.-11 others(22): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CGRRF1_chr14_54504906_54544292 | 54513566 | T | TTTATG | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01928.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0004 | a0001c0001t0001g0036a0001c0001t0001g0042a0001c0001t0001g0043others(7): Show | 11 | 338 | 0.0325 | 5 | c.104 others(22): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CHAC1_chr15_40948471_40961512 | 40951595 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG02074.hp2 HG02615.hp2 HG02896.hp1 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0011others(3): Show | 15 | 420 | 0.0357 | 5 | c.-19 others(16): Show |
CHAC1 | ENSG00000128965.13 | transcript | ENST00000617768.5 | protein_coding | 1875 | chr15 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4399319 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01515.hp1 HG01975.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0006 | a0001c0001t0003a0001c0003t0003a0001c0003t0007others(1): Show | a0001c0001t0003g0323a0001c0003t0003g0277a0001c0003t0003g0279others(6): Show | 9 | 384 | 0.0234 | 5 | c.-34 others(16): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 3320 | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4437735 | T | TTTTTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(364): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0007others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(350): Show | 367 | 384 | 0.9557 | 5 | c.267 others(24): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1A_chr19_4397640_4448397 | 4438354 | T | TTTTTG | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(114): Show |
a0001a0002a0009others(2): Show | a0001c0001a0002c0002a0002c0011others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0011others(4): Show | a0001c0001t0001g0238a0001c0001t0001g0256a0001c0001t0001g0258others(108): Show | 117 | 384 | 0.3047 | 5 | c.267 others(24): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36390333 | C | CAAAAG | intron_variant | MODIFIER | HG01981.hp1 NA18940.hp2 NA18960.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0019 | a0001c0001t0002g0205a0001c0001t0002g0247a0001c0001t0002g0248others(4): Show | 7 | 346 | 0.0202 | 5 | c.260 others(22): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36391907 | A | ATTTTT | intron_variant | MODIFIER | HG01358.hp2 HG02109.hp2 HG02486.hp1 others(3): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(3): Show | a0001c0001t0001g0318a0001c0001t0006g0300a0001c0001t0017g0302others(3): Show | 6 | 346 | 0.0173 | 5 | c.377 others(20): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36396358 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02148.hp2 HG02258.hp2 others(11): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0299a0001c0001t0001g0303a0001c0001t0001g0316others(11): Show | 14 | 346 | 0.0405 | 5 | c.482 others(22): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHCHD3_chr7_132779870_133087090 | 132822820 | A | AAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00733.hp2 others(48): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0017others(48): Show | 51 | 310 | 0.1645 | 5 | c.524 others(24): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132887648 | A | AATAAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(306): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(306): Show | 309 | 310 | 0.9968 | 5 | c.370 others(22): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132919100 | C | CTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00621.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0138a0001c0001t0001g0140others(11): Show | 14 | 310 | 0.0452 | 5 | c.370 others(24): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 133013206 | A | AAAAAG | intron_variant | MODIFIER | HG00621.hp2 HG01175.hp2 HG01928.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0127a0001c0001t0001g0131others(9): Show | 12 | 310 | 0.0387 | 5 | c.251 others(24): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126737842 | A | AGGGGC | intron_variant | MODIFIER | HG01255.hp1 HG02451.hp2 HG02559.hp1 others(2): Show |
a0002a0006 | a0002c0002a0006c0008 | a0002c0002t0002a0006c0008t0002 | a0002c0002t0002g0094a0002c0002t0002g0095a0002c0002t0002g0096others(2): Show | 5 | 216 | 0.0232 | 5 | c.411 others(22): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126824560 | C | CAAAAA | intron_variant | MODIFIER | HG01167.hp1 HG02135.hp1 HG02738.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0166a0001c0001t0001g0196a0001c0001t0001g0197others(3): Show | 6 | 216 | 0.0278 | 5 | c.412 others(24): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126892953 | G | GTTGTT | intron_variant | MODIFIER | HG00408.hp2 HG01361.hp2 HG02004.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0137a0001c0001t0001g0143a0002c0002t0001g0013others(8): Show | 11 | 216 | 0.0509 | 5 | c.496 others(24): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHD1L_chr1_147237684_147300762 | 147249404 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(72): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0004a0001c0007others(8): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(10): Show | a0001c0001t0001g0251a0001c0001t0001g0316a0001c0001t0001g0317others(57): Show | 75 | 418 | 0.1794 | 5 | c.128 others(22): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHD1L_chr1_147237684_147300762 | 147261401 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG02970.hp1 NA18939.hp2 others(5): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0008 | a0002c0002t0001a0003c0003t0002a0005c0008t0001 | a0002c0002t0001g0130a0003c0003t0002g0012a0003c0003t0002g0162others(3): Show | 8 | 418 | 0.0191 | 5 | c.576 others(22): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHD1L_chr1_147237684_147300762 | 147276344 | C | CAGCCA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0007others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(19): Show | a0001c0001t0001g0211a0001c0001t0003g0015a0001c0001t0003g0019others(220): Show | 275 | 418 | 0.6579 | 5 | c.153 others(20): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 14/22 | chr1 | TogoVar | ||||||
CHD1L_chr1_147237684_147300762 | 147278222 | G | GTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG01074.hp2 others(45): Show |
a0001a0003a0005 | a0001c0001a0001c0007a0001c0009others(3): Show | a0001c0001t0003a0001c0007t0001a0001c0009t0003others(3): Show | a0001c0001t0003g0015a0001c0001t0003g0019a0001c0001t0003g0036others(37): Show | 48 | 418 | 0.1148 | 5 | c.154 others(24): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHD1L_chr1_147237684_147300762 | 147288322 | C | CATAAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(108): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0006a0001c0013others(6): Show | a0001c0001t0001a0001c0006t0001a0001c0013t0001others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(83): Show | 111 | 418 | 0.2656 | 5 | c.232 others(22): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHD1L_chr1_147237684_147300762 | 147288347 | G | GAAAGA | intron_variant | MODIFIER | HG01261.hp2 HG02129.hp1 HG02630.hp1 others(6): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0003a0004c0005t0002g0060a0004c0005t0002g0061others(2): Show | 9 | 418 | 0.0215 | 5 | c.232 others(22): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHD1L_chr1_147237684_147300762 | 147299782 | G | GTCCCA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(260): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0007others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(18): Show | a0001c0001t0001g0211a0001c0001t0001g0317a0001c0001t0003g0015others(210): Show | 263 | 418 | 0.6292 | 5 | c.*42 others(16): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 4021 | chr1 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98854349 | C | CAATAG | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(100): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0009 | a0001c0003t0002a0001c0003t0005a0001c0003t0006others(15): Show | a0001c0003t0002g0002a0001c0003t0002g0048a0001c0003t0002g0049others(96): Show | 103 | 334 | 0.3084 | 5 | c.*20 others(16): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 36/36 | 2030 | chr5 | TogoVar |