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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFH_chr1_196647043_196752504 | 196679020 | AAGGAAAA others(5): Show |
A | intron_variant | MODIFIER | NA19063.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0123 | 1 | 308 | 0.0033 | -12 | c.620 others(27): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 5/21 | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196681347 | CACTTTGA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp1 others(74): Show |
a0001a0002a0004others(4): Show | a0001c0008a0002c0002a0004c0004others(6): Show | a0001c0008t0001a0002c0002t0001a0004c0004t0001others(6): Show | a0001c0008t0001g0174a0001c0008t0001g0176a0001c0008t0001g0228others(74): Show | 77 | 308 | 0.2500 | -12 | c.790 others(29): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196692746 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00609.hp1 others(37): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0001c0010others(9): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(9): Show | a0001c0001t0001g0215a0001c0001t0001g0223a0001c0001t0001g0225others(36): Show | 40 | 308 | 0.1299 | -12 | c.133 others(31): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196693955 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG01168.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0092 | 1 | 308 | 0.0033 | -12 | c.133 others(31): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196714660 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0004 | a0004c0015 | a0004c0015t0001 | a0004c0015t0001g0145 | 1 | 308 | 0.0033 | -12 | c.151 others(29): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFI_chr4_109735695_109806999 | 109753283 | ATATTTAT others(5): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0149 | 1 | 354 | 0.0028 | -12 | c.905 others(27): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109756837 | CTACAAGA others(5): Show |
C | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 354 | 0.0028 | -12 | c.904 others(27): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109756888 | GGAAAGAA others(5): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00733.hp2 HG00741.hp1 others(39): Show |
a0001a0010a0011 | a0001c0001a0001c0002a0010c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0153others(39): Show | 42 | 354 | 0.1186 | -12 | c.904 others(27): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114013 | GATATATA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0075a0001c0001t0079 | a0001c0001t0075g0204a0001c0001t0079g0203 | 2 | 234 | 0.0086 | -12 | c.-26 others(23): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2150 | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114040 | ATATATAT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0173 | 1 | 234 | 0.0043 | -12 | c.-25 others(23): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2123 | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201158849 | CATCATTA others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02280.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0042a0001c0002t0043a0001c0002t0118others(1): Show | a0001c0002t0042g0045a0001c0002t0043g0173a0001c0002t0118g0174others(1): Show | 4 | 234 | 0.0171 | -12 | c.794 others(29): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFLAR_chr2_201111164_201181687 | 201158852 | CATTATTA others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0101 | 1 | 234 | 0.0043 | -12 | c.794 others(29): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFLAR_chr2_201111164_201181687 | 201165241 | CTTATTAT others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG01099.hp1 HG01496.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0109a0001c0001t0110a0001c0002t0014others(2): Show | a0001c0001t0109g0093a0001c0001t0110g0010a0001c0002t0014g0092others(4): Show | 7 | 234 | 0.0299 | -12 | c.*13 others(23): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 10/10 | 1304 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CFTR_chr7_117475025_117673665 | 117556512 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 202 | 0.0050 | -12 | c.139 others(31): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117573047 | TCTCTCTC others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(19): Show |
a0001a0009a0013 | a0001c0003a0001c0008a0009c0015others(1): Show | a0001c0003t0003a0001c0008t0003a0001c0008t0010others(2): Show | a0001c0003t0003g0001a0001c0003t0003g0113a0001c0003t0003g0114others(18): Show | 22 | 202 | 0.1089 | -12 | c.158 others(33): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117612011 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02895.hp1 NA20805.hp1 |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0003a0002c0002t0002 | a0001c0006t0003g0198a0002c0002t0002g0147 | 2 | 202 | 0.0099 | -12 | c.336 others(29): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CGAS_chr6_73418711_73457297 | 73427278 | CTTTATTT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0009a0002c0001others(3): Show | a0001c0003t0005a0001c0003t0015a0001c0003t0027others(9): Show | a0001c0003t0005g0203a0001c0003t0005g0204a0001c0003t0015g0013others(23): Show | 29 | 410 | 0.0707 | -12 | c.121 others(31): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
CGB1_chr19_49030569_49041895 | 49035137 | ATATTATT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02647.hp2 HG02895.hp2 HG02897.hp1 others(2): Show |
a0000 | a0000c0004 | a0000c0004t0001 | a0000c0004t0001g0010a0000c0004t0001g0023 | 5 | 376 | 0.0133 | -12 | c.*46 others(21): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 431 | chr19 | TogoVar | ||||||
CGB3_chr19_49017869_49029333 | 49027239 | AAAAAATA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0017 | 1 | 391 | 0.0026 | -12 | c.-32 others(23): Show |
CGB3 | ENSG00000104827.12 | transcript | ENST00000357383.4 | protein_coding | 2907 | chr19 | TogoVar | ||||||
CGB7_chr19_49049274_49062749 | 49060036 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | -12 | c.-39 others(23): Show |
CGB7 | ENSG00000196337.14 | transcript | ENST00000684222.1 | protein_coding | 2288 | chr19 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57374187 | CCCTTCCC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02622.hp1 others(5): Show |
a0005a0008a0009others(2): Show | a0005c0006a0008c0010a0009c0014others(2): Show | a0005c0006t0038a0008c0010t0005a0008c0010t0028others(3): Show | a0005c0006t0038g0095a0008c0010t0005g0094a0008c0010t0005g0140others(5): Show | 8 | 294 | 0.0272 | -12 | c.-23 others(23): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 2317 | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57374538 | TTGTGTGT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02280.hp2 HG02818.hp1 others(2): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0038a0005c0006others(2): Show | a0001c0001t0002a0002c0038t0012a0005c0006t0008others(2): Show | a0001c0001t0002g0033a0002c0038t0012g0123a0005c0006t0008g0004others(2): Show | 5 | 294 | 0.0170 | -12 | c.-20 others(23): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1966 | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57405772 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0001c0011others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(38): Show | a0001c0001t0001g0044a0001c0001t0001g0102a0001c0001t0001g0104others(78): Show | 82 | 294 | 0.2789 | -12 | c.-16 others(31): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57405799 | TTTCTTTC others(5): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG01928.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0015others(4): Show | a0001c0001t0002a0001c0005t0001a0001c0005t0002others(6): Show | a0001c0001t0002g0212a0001c0005t0001g0222a0001c0005t0001g0257others(8): Show | 11 | 294 | 0.0374 | -12 | c.-16 others(31): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57437619 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0008 | a0002c0008t0017 | a0002c0008t0017g0013 | 1 | 294 | 0.0034 | -12 | c.-15 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57447805 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02683.hp1 HG02895.hp1 others(3): Show |
a0001a0002a0006 | a0001c0001a0001c0011a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0010a0001c0011t0022others(3): Show | a0001c0001t0002g0216a0001c0001t0010g0262a0001c0011t0022g0152others(3): Show | 6 | 294 | 0.0204 | -12 | c.180 others(31): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57473896 | CTTCTTTT others(5): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0199 | 1 | 294 | 0.0034 | -12 | c.240 others(33): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57473899 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0006 | a0006c0007 | a0006c0007t0005 | a0006c0007t0005g0125 | 1 | 294 | 0.0034 | -12 | c.240 others(33): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57475492 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG01069.hp2 others(42): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0008others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0129a0001c0001t0001g0226a0001c0001t0001g0247others(41): Show | 45 | 294 | 0.1531 | -12 | c.240 others(33): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57529559 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00733.hp1 others(36): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0005a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0129a0001c0001t0001g0261a0001c0001t0002g0060others(36): Show | 39 | 294 | 0.1327 | -12 | c.320 others(29): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGREF1_chr2_27095594_27124128 | 27116871 | TTCTCTCT others(5): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp2 HG01169.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0320a0001c0002t0001g0014a0001c0002t0002g0008others(6): Show | 11 | 352 | 0.0313 | -12 | c.-12 others(29): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27121387 | TTTTTTTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG02451.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0151a0001c0002t0005g0009a0001c0002t0005g0036 | 4 | 352 | 0.0114 | -12 | c.-25 others(23): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 2260 | chr2 | TogoVar | ||||||
CHAC1_chr15_40948471_40961512 | 40951595 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(32): Show | 290 | 420 | 0.6905 | -12 | c.-19 others(23): Show |
CHAC1 | ENSG00000128965.13 | transcript | ENST00000617768.5 | protein_coding | 1875 | chr15 | TogoVar | ||||||
CHADL_chr22_41224513_41245931 | 41227461 | CCCCGTCA others(5): Show |
C | downstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 414 | 0.0024 | -12 | c.*22 others(23): Show |
CHADL | ENSG00000100399.16 | transcript | ENST00000216241.14 | protein_coding | 2051 | chr22 | TogoVar | ||||||
CHADL_chr22_41224513_41245931 | 41242143 | CATATATA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG02055.hp2 HG02071.hp2 others(24): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(15): Show | 27 | 414 | 0.0652 | -12 | c.-12 others(23): Show |
CHADL | ENSG00000100399.16 | transcript | ENST00000216241.14 | protein_coding | 1213 | chr22 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4401608 | AAAGGAAG others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG02523.hp2 HG02818.hp1 others(7): Show |
a0004a0005a0012others(1): Show | a0004c0005a0005c0006a0005c0018others(2): Show | a0004c0005t0002a0005c0006t0002a0005c0018t0002others(2): Show | a0004c0005t0002g0354a0005c0006t0002g0356a0005c0006t0002g0357others(7): Show | 10 | 384 | 0.0260 | -12 | c.-11 others(23): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 1031 | chr19 | TogoVar | ||||||
CHAMP1_chr13_114309503_114332322 | 114321604 | GTTGGGCT others(5): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00733.hp2 others(115): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0009a0001c0001t0001g0017a0001c0001t0001g0022others(65): Show | 118 | 414 | 0.2850 | -12 | c.-56 others(27): Show |
CHAMP1 | ENSG00000198824.8 | transcript | ENST00000361283.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49624718 | AGGATGGA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(155): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0050a0001c0001t0001g0169a0001c0001t0001g0254others(143): Show | 158 | 418 | 0.3780 | -12 | c.753 others(27): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49624730 | CGGATGGA others(5): Show |
C | intron_variant | MODIFIER | NA18949.hp1 NA18954.hp1 NA18993.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0002a0001c0001t0007a0001c0003t0010others(1): Show | a0001c0001t0002g0273a0001c0001t0007g0240a0001c0003t0010g0238others(1): Show | 4 | 418 | 0.0096 | -12 | c.753 others(27): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49647740 | TTTCCTTC others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01978.hp1 HG01981.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0027others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0218a0001c0001t0003g0031a0001c0001t0003g0032others(20): Show | 25 | 418 | 0.0598 | -12 | c.128 others(29): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49649866 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0005t0005others(3): Show | a0001c0001t0001g0349a0001c0001t0014g0279a0001c0005t0005g0350others(3): Show | 6 | 418 | 0.0144 | -12 | c.151 others(29): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHCHD2_chr7_56096573_56111476 | 56098962 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 442 | 0.0023 | -12 | c.*28 others(23): Show |
CHCHD2 | ENSG00000106153.13 | transcript | ENST00000395422.4 | protein_coding | 2610 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132799007 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00597.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(34): Show | 37 | 310 | 0.1194 | -12 | c.525 others(29): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132807606 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01243.hp2 others(14): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0157others(14): Show | 17 | 310 | 0.0548 | -12 | c.525 others(31): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132834947 | CATTTATT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(73): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0028others(73): Show | 76 | 310 | 0.2452 | -12 | c.524 others(29): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132874574 | AGAATATT others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0015others(63): Show | 66 | 310 | 0.2129 | -12 | c.453 others(31): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 5/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132921628 | CACAACAA others(5): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 310 | 0.0032 | -12 | c.370 others(31): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132967625 | TTAAATAA others(5): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG02055.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0050a0001c0001t0001g0051others(1): Show | 4 | 310 | 0.0129 | -12 | c.369 others(29): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 133006484 | TAAATAAA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(83): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0015others(83): Show | 86 | 310 | 0.2774 | -12 | c.251 others(31): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 133050340 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0050a0001c0001t0001g0051 | 3 | 310 | 0.0097 | -12 | c.169 others(31): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 2/7 | chr7 | TogoVar |