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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFH_chr1_196647043_196752504 | 196703982 | C | CAAAAA | intron_variant | MODIFIER | HG01928.hp1 HG02132.hp1 HG02300.hp1 others(5): Show |
a0002a0004a0021 | a0002c0002a0004c0024a0021c0028 | a0002c0002t0001a0004c0024t0001a0021c0028t0001 | a0002c0002t0001g0033 a0002c0002t0001g0081 a0002c0002t0001g0082 others(5): Show |
8 | 53 | 0.1509 | 5 | c.133 others(24): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109752977 | A | ATATAT | intron_variant | MODIFIER | HG00639.hp2 HG01256.hp1 HG03017.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 others(15): Show |
18 | 352 | 0.0511 | 5 | c.905 others(20): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109753418 | A | ATTTAT | intron_variant | MODIFIER | HG00673.hp1 HG02027.hp2 HG02080.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0303 a0001c0001t0001g0311 a0002c0003t0001g0299 others(15): Show |
18 | 349 | 0.0516 | 5 | c.905 others(20): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109757823 | T | TTTTAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(334): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(318): Show |
337 | 352 | 0.9574 | 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 | a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0183 others(32): Show |
35 | 45 | 0.7778 | 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 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0001t0002g0045 others(17): Show |
148 | 286 | 0.5175 | 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 | a0001c0001t0001g0133 a0001c0001t0001g0187 a0001c0001t0002g0163 others(4): Show |
7 | 185 | 0.0378 | 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 | a0001c0001t0063a0001c0002t0021a0001c0002t0125 | a0001c0001t0063g0045 a0001c0002t0021g0067 a0001c0002t0125g0028 |
3 | 163 | 0.0184 | 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 | a0001c0001t0065a0001c0001t0092a0001c0001t0093others(12): Show | a0001c0001t0065g0196 a0001c0001t0092g0134 a0001c0001t0093g0013 others(18): Show |
22 | 178 | 0.1236 | 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 | a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0047 others(21): Show |
65 | 301 | 0.2159 | 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(69): Show |
a0001a0004a0006others(5): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(69): Show |
72 | 199 | 0.3618 | 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 | a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0024 |
3 | 200 | 0.0150 | 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 | a0001c0003t0004g0060 a0001c0003t0009g0303 a0001c0003t0010g0006 others(13): Show |
21 | 400 | 0.0525 | 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 | a0002c0005t0009g0128 a0002c0005t0028g0127 a0002c0005t0028g0129 others(2): Show |
5 | 408 | 0.0123 | 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 | a0001c0003t0005g0193 a0001c0003t0005g0194 a0001c0003t0036g0049 others(39): Show |
47 | 286 | 0.1643 | 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 |
a0001a0002a0008others(1): Show | a0001c0003a0002c0001a0002c0005others(4): Show | a0001c0003t0001a0002c0001t0001a0002c0001t0005others(25): Show | a0001c0003t0001g0246 a0002c0001t0001g0001 a0002c0001t0001g0003 others(107): Show |
138 | 395 | 0.3494 | 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(277): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0006others(14): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0007others(68): Show | a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0015 others(222): Show |
280 | 407 | 0.6880 | 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 | a0001c0002t0002g0007 a0001c0002t0006g0119 a0001c0002t0006g0123 others(12): Show |
20 | 48 | 0.4167 | 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 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0106 others(2): Show |
8 | 204 | 0.0392 | 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 | a0001c0001t0008 | a0001c0001t0008g0016 | 3 | 374 | 0.0080 | 5 | c.-17 others(14): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 1/3 | 167 | chr19 | TogoVar | ||||||
CGB2_chr19_49026890_49038238 | 49036877 | T | TTCCCC | downstream_gene_variant | MODIFIER | HG00597.hp1 HG02027.hp1 HG03490.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 374 | 0.0107 | 5 | c.*36 others(16): Show |
CGB2 | ENSG00000104818.15 | transcript | ENST00000359342.7 | protein_coding | 3640 | 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 | 310 | 0.0323 | 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(24): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0040a0002c0002t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0040g0065 a0002c0002t0003g0003 others(4): Show |
27 | 100 | 0.2700 | 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 | 327 | 0.0275 | 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 | a0001c0001t0003g0002 a0001c0001t0012g0016 a0001c0001t0035g0058 |
10 | 101 | 0.0990 | 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 | a0001c0001t0001g0139 a0001c0001t0001g0227 a0001c0001t0001g0248 others(18): Show |
21 | 48 | 0.4375 | 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(33): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0040others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(17): Show | a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0079 others(33): Show |
36 | 68 | 0.5294 | 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(35): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0081 others(35): Show |
38 | 72 | 0.5278 | 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 | a0003c0003t0009 | a0003c0003t0009g0044 a0003c0003t0009g0161 |
3 | 358 | 0.0084 | 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(330): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(21): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(275): Show |
333 | 350 | 0.9514 | 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 | a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0002g0186 others(83): Show |
125 | 138 | 0.9058 | 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 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 others(7): Show |
11 | 136 | 0.0809 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0019 others(2): Show |
15 | 304 | 0.0493 | 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 | a0001c0001t0003g0323 a0001c0003t0003g0277 a0001c0003t0003g0279 others(6): Show |
9 | 29 | 0.3103 | 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(363): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0007others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(349): Show |
366 | 378 | 0.9683 | 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 |
a0001a0002a0014others(2): Show | a0001c0001a0002c0002a0002c0011others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0011others(4): Show | a0001c0001t0001g0238 a0001c0001t0001g0256 a0001c0001t0001g0258 others(108): Show |
117 | 382 | 0.3063 | 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 | a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 others(4): Show |
7 | 204 | 0.0343 | 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 | a0001c0001t0001g0298 a0001c0001t0006g0280 a0001c0001t0017g0282 others(3): Show |
6 | 136 | 0.0441 | 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 | a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0296 others(11): Show |
14 | 202 | 0.0693 | 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 | a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 others(48): Show |
51 | 296 | 0.1723 | 5 | c.524 others(24): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132919100 | C | CTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00621.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0138 a0001c0001t0001g0140 others(11): Show |
14 | 96 | 0.1458 | 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 | a0001c0001t0001g0009 a0001c0001t0001g0127 a0001c0001t0001g0131 others(9): Show |
12 | 106 | 0.1132 | 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 | a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 others(2): Show |
5 | 214 | 0.0234 | 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 | a0001c0001t0001g0166 a0001c0001t0001g0196 a0001c0001t0001g0197 others(3): Show |
6 | 10 | 0.6000 | 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 | a0001c0001t0001g0137 a0001c0001t0001g0143 a0002c0002t0001g0013 others(8): Show |
11 | 202 | 0.0545 | 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(71): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0004a0001c0007others(8): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(10): Show | a0001c0001t0001g0248 a0001c0001t0001g0313 a0001c0001t0001g0314 others(57): Show |
74 | 75 | 0.9867 | 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 | a0002c0002t0001g0124 a0003c0003t0002g0015 a0003c0003t0002g0158 others(3): Show |
8 | 140 | 0.0571 | 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(271): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0007others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(19): Show | a0001c0001t0001g0208 a0001c0001t0003g0011 a0001c0001t0003g0017 others(215): Show |
274 | 416 | 0.6587 | 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 | a0001c0001t0003g0011 a0001c0001t0003g0017 a0001c0001t0003g0035 others(36): Show |
48 | 50 | 0.9600 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(83): Show |
111 | 338 | 0.3284 | 5 | c.232 others(22): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |