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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BTBD9_chr6_38163451_38644929 | 38454454 | TATATTTA others(21): Show |
T | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0116 | 1 | 222 | 0.0045 | -28 | c.115 others(51): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38465707 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0070 | 1 | 155 | 0.0065 | -28 | c.115 others(51): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTLA_chr3_112458966_112504472 | 112469607 | GTATATAT others(21): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG03195.hp2 |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0029 | a0002c0002t0006g0260 a0002c0002t0029g0174 |
2 | 216 | 0.0093 | -28 | c.594 others(43): Show |
BTLA | ENSG00000186265.10 | transcript | ENST00000334529.10 | protein_coding | 4/4 | chr3 | TogoVar | |||||||
BTNL2_chr6_32388339_32412181 | 32392504 | AAAAAAAA others(21): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0162 | 1 | 452 | 0.0022 | -28 | c.*86 others(37): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 834 | chr6 | TogoVar | |||||||
BZW1_chr2_200806910_200832338 | 200826391 | AGATAGAT others(21): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0005 | 1 | 381 | 0.0026 | -28 | c.*42 others(39): Show |
BZW1 | ENSG00000082153.18 | transcript | ENST00000409600.6 | protein_coding | 12/12 | 4214 | chr2 | TogoVar | ||||||
BZW1_chr2_200806910_200832338 | 200826395 | AGATAGAT others(21): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0074 | 1 | 321 | 0.0031 | -28 | c.*42 others(39): Show |
BZW1 | ENSG00000082153.18 | transcript | ENST00000409600.6 | protein_coding | 12/12 | 4218 | chr2 | TogoVar | ||||||
BZW2_chr7_16641181_16711517 | 16710688 | GGGAAGGA others(21): Show |
G | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01255.hp1 HG01361.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 others(14): Show |
18 | 397 | 0.0453 | -28 | c.*46 others(39): Show |
BZW2 | ENSG00000136261.16 | transcript | ENST00000258761.8 | protein_coding | 4172 | chr7 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23323894 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02965.hp1 NA19070.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0131 a0001c0001t0001g0250 a0001c0002t0001g0008 |
3 | 123 | 0.0244 | -28 | c.328 others(45): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf71_chr10_49294170_49332492 | 49319682 | CTATATAT others(21): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0004 | a0004c0052 | a0004c0052t0002 | a0004c0052t0002g0094 | 1 | 33 | 0.0303 | -28 | c.-14 others(47): Show |
C10orf71 | ENSG00000177354.12 | transcript | ENST00000374144.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
C10orf88_chr10_122925901_122959227 | 122926889 | CAGAAAGA others(21): Show |
C | downstream_gene_variant | MODIFIER | HG03225.hp1 HG03491.hp1 NA19030.hp1 |
a0001a0003a0008 | a0001c0001a0003c0002a0008c0004 | a0001c0001t0001a0003c0002t0001a0008c0004t0009 | a0001c0001t0001g0012 a0003c0002t0001g0025 a0008c0004t0009g0034 |
3 | 185 | 0.0162 | -28 | c.*55 others(39): Show |
C10orf88 | ENSG00000119965.13 | transcript | ENST00000481909.2 | protein_coding | 4011 | chr10 | TogoVar | |||||||
C10orf90_chr10_126419997_126675693 | 126669132 | TCTGATTT others(21): Show |
T | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 216 | 0.0046 | -28 | c.240 others(45): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
C10orf90_chr10_126419997_126675693 | 126672770 | CCAGGACT others(21): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp2 NA19043.hp2 NA19064.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0014others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0008t0003others(2): Show | a0001c0001t0003g0199 a0001c0001t0008g0022 a0001c0008t0003g0124 others(2): Show |
5 | 195 | 0.0256 | -28 | c.-23 others(39): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2078 | chr10 | TogoVar | |||||||
C11orf65_chr11_108377755_108472529 | 108430897 | AACACACA others(21): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00733.hp1 others(53): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0008 | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(52): Show |
56 | 57 | 0.9825 | -28 | c.174 others(43): Show |
C11orf65 | ENSG00000166323.13 | transcript | ENST00000393084.6 | protein_coding | 3/8 | chr11 | TogoVar | |||||||
C12orf40_chr12_39621183_39726914 | 39711733 | GTGTATGT others(21): Show |
G | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 358 | 0.0028 | -28 | c.141 others(47): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39713245 | TACACACA others(21): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 358 | 0.0028 | -28 | c.141 others(47): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf4_chr12_4482735_4543469 | 4528896 | TACACACA others(21): Show |
T | intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 71 | 0.0141 | -28 | c.506 others(43): Show |
C12orf4 | ENSG00000047621.12 | transcript | ENST00000261250.8 | protein_coding | 4/13 | chr12 | TogoVar | |||||||
C12orf60_chr12_14798670_14829415 | 14823061 | TACTCAAA others(21): Show |
T | frameshift_variant | HIGH | HG02965.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0001 | 1 | 386 | 0.0026 | -28 | c.129 others(35): Show |
p.Gln others(4): Show |
C12orf60 | ENSG00000182993.5 | transcript | ENST00000330828.3 | protein_coding | 2/2 | 235/1586 | 129/738 | 43/245 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
C13orf42_chr13_51077119_51116274 | 51114635 | GATAGATA others(21): Show |
G | upstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 445 | 0.0022 | -28 | c.-34 others(39): Show |
C13orf42 | ENSG00000226792.8 | transcript | ENST00000563710.7 | protein_coding | 3362 | chr13 | TogoVar | |||||||
C13orf46_chr13_113948705_113979076 | 113954823 | GGTGGAGA others(21): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(131): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0008a0005c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0004 a0001c0001t0002g0002 a0001c0001t0002g0003 others(70): Show |
134 | 412 | 0.3252 | -28 | c.*19 others(39): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | 1922 | chr13 | TogoVar | ||||||
C14orf132_chr14_96034362_96098971 | 96069256 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(123): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(103): Show |
126 | 137 | 0.9197 | -28 | c.28- others(45): Show |
C14orf132 | ENSG00000227051.7 | transcript | ENST00000555004.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
C16orf89_chr16_5039122_5070956 | 5055938 | CGTGTGTG others(21): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0259 | 1 | 39 | 0.0256 | -28 | c.763 others(42): Show |
C16orf89 | ENSG00000153446.16 | transcript | ENST00000472572.8 | protein_coding | 5/7 | chr16 | TogoVar | |||||||
C17orf58_chr17_67986099_68001469 | 68000846 | TTATATAT others(21): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02293.hp2 NA18942.hp1 others(3): Show |
a0002a0005 | a0002c0002a0002c0004a0005c0009 | a0002c0002t0001a0002c0004t0001a0005c0009t0001 | a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0157 others(3): Show |
6 | 123 | 0.0488 | -28 | c.-46 others(39): Show |
C17orf58 | ENSG00000186665.10 | transcript | ENST00000580729.3 | protein_coding | 4378 | chr17 | TogoVar | |||||||
C17orf58_chr17_67986099_68001469 | 68000873 | TATATATA others(21): Show |
T | upstream_gene_variant | MODIFIER | NA19055.hp1 NA19077.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0001 | a0001c0001t0002g0059 a0002c0004t0001g0002 |
3 | 410 | 0.0073 | -28 | c.-47 others(39): Show |
C17orf58 | ENSG00000186665.10 | transcript | ENST00000580729.3 | protein_coding | 4405 | chr17 | TogoVar | |||||||
C19orf12_chr19_29693937_29720261 | 29719540 | TAATATAT others(21): Show |
T | upstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 416 | 0.0024 | -28 | c.-44 others(39): Show |
C19orf12 | ENSG00000131943.20 | transcript | ENST00000323670.14 | protein_coding | 4280 | chr19 | TogoVar | |||||||
C1QTNF12_chr1_1237453_1251722 | 1241269 | CAGATCCA others(21): Show |
C | downstream_gene_variant | MODIFIER | NA18956.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036 | 1 | 326 | 0.0031 | -28 | c.*12 others(39): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 1183 | chr1 | TogoVar | |||||||
C1S_chr12_7055718_7076032 | 7073518 | TCACACAC others(21): Show |
T | downstream_gene_variant | MODIFIER | HG03017.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 133 | 0.0150 | -28 | c.*28 others(39): Show |
C1S | ENSG00000182326.17 | transcript | ENST00000360817.10 | protein_coding | 2487 | chr12 | TogoVar | |||||||
C1orf100_chr1_244347635_244394663 | 244360535 | CACACACA others(21): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0001g0372 a0001c0001t0001g0375 others(3): Show |
6 | 450 | 0.0133 | -28 | c.-13 others(45): Show |
C1orf100 | ENSG00000173728.11 | transcript | ENST00000308105.5 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
C1orf100_chr1_244347635_244394663 | 244360536 | ACACACAC others(21): Show |
A | intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 450 | 0.0022 | -28 | c.-13 others(45): Show |
C1orf100 | ENSG00000173728.11 | transcript | ENST00000308105.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1077303 | GGAGGCTG others(21): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp1 HG03540.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0129 a0001c0001t0003g0245 a0001c0001t0014g0225 |
3 | 323 | 0.0093 | -28 | c.*55 others(39): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4519 | chr1 | TogoVar | |||||||
C1orf21_chr1_184382029_184634019 | 184630308 | TCACACAC others(21): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01243.hp2 HG01255.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 others(69): Show |
72 | 74 | 0.9730 | -28 | c.*10 others(41): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 1290 | chr1 | TogoVar | |||||||
C1orf43_chr1_154201720_154225590 | 154203172 | AATATATA others(21): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01169.hp2 HG01891.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0114 a0001c0001t0002g0002 a0001c0001t0002g0003 others(8): Show |
35 | 66 | 0.5303 | -28 | c.*42 others(39): Show |
C1orf43 | ENSG00000143612.21 | transcript | ENST00000368521.10 | protein_coding | 3547 | chr1 | TogoVar | |||||||
C1orf94_chr1_34171907_34224131 | 34207262 | GGTGTGTG others(21): Show |
G | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 25 | 0.0400 | -28 | c.144 others(45): Show |
C1orf94 | ENSG00000142698.15 | transcript | ENST00000488417.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C22orf31_chr22_29053672_29066831 | 29064675 | ATTTTTTT others(21): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG01099.hp2 HG06807.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0002t0001g0064 a0002c0003t0001g0003 others(1): Show |
4 | 34 | 0.1176 | -28 | c.-29 others(39): Show |
C22orf31 | ENSG00000100249.5 | transcript | ENST00000216071.5 | protein_coding | 2845 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32148227 | GTGTGTGT others(21): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00673.hp2 HG01175.hp1 others(7): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0005 | 10 | 333 | 0.0300 | -28 | c.*12 others(39): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 778 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32148235 | GTGTACAT others(21): Show |
G | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG03139.hp1 others(2): Show |
a0002a0005 | a0002c0002a0005c0008 | a0002c0002t0006a0005c0008t0002 | a0002c0002t0006g0044 a0005c0008t0002g0043 a0005c0008t0002g0115 others(1): Show |
5 | 391 | 0.0128 | -28 | c.*12 others(39): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 770 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32148237 | GTACATAT others(21): Show |
G | downstream_gene_variant | MODIFIER | HG02895.hp2 | a0009 | a0009c0017 | a0009c0017t0002 | a0009c0017t0002g0114 | 1 | 352 | 0.0028 | -28 | c.*12 others(39): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 768 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32148240 | CATATATA others(21): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0111 |
8 | 256 | 0.0313 | -28 | c.*12 others(39): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 765 | chr22 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74077819 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(12): Show |
a0002a0003a0006others(1): Show | a0002c0003a0002c0028a0003c0002others(2): Show | a0002c0003t0001a0002c0028t0001a0003c0002t0001others(2): Show | a0002c0003t0001g0018 a0002c0003t0001g0170 a0002c0003t0001g0187 others(12): Show |
15 | 315 | 0.0476 | -28 | c.460 others(45): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 23/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74116927 | CGTGTATA others(21): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0007 | a0007c0026 | a0007c0026t0001 | a0007c0026t0001g0005 | 1 | 315 | 0.0032 | -28 | c.152 others(47): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117047 | TGTATATA others(21): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG04228.hp2 NA18943.hp2 others(3): Show |
a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0302 a0010c0010t0001g0303 a0010c0010t0001g0305 others(3): Show |
6 | 315 | 0.0190 | -28 | c.152 others(47): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117061 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0195 | 1 | 311 | 0.0032 | -28 | c.152 others(47): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117075 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00609.hp2 others(12): Show |
a0001a0034a0035 | a0001c0001a0034c0031a0035c0039 | a0001c0001t0001a0034c0031t0001a0035c0039t0001 | a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0122 others(12): Show |
15 | 245 | 0.0612 | -28 | c.152 others(47): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404255 | GGGGACGG others(21): Show |
G | downstream_gene_variant | MODIFIER | HG00609.hp1 HG02572.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0015a0001c0001t0032others(3): Show | a0001c0001t0014g0009 a0001c0001t0015g0010 a0001c0001t0032g0030 others(3): Show |
6 | 317 | 0.0189 | -28 | c.*28 others(39): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1189 | chr19 | TogoVar | |||||||
C2CD6_chr2_201482421_201624178 | 201515202 | GTTTTTTT others(21): Show |
G | intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 142 | 0.0070 | -28 | c.150 others(49): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 13/15 | chr2 | TogoVar | |||||||
C2_chr6_31922717_31950672 | 31934288 | ATGGTGGA others(21): Show |
A | splice_donor_variant others(3): Show |
HIGH | HG00323.hp2 HG01123.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0083 a0003c0005t0001g0086 |
2 | 394 | 0.0051 | -28 | c.841 others(38): Show |
p.Val others(13): Show |
C2 | ENSG00000166278.16 | transcript | ENST00000299367.10 | protein_coding | 6/18 | 877/2610 | 841/2259 | 281/752 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
C2orf15_chr2_99136707_99156669 | 99136798 | CAAAAAAA others(21): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 274 | 0.0036 | -28 | c.-54 others(39): Show |
C2orf15 | ENSG00000273045.7 | transcript | ENST00000650052.2 | protein_coding | 4908 | chr2 | TogoVar | |||||||
C2orf92_chr2_97664713_97708066 | 97665715 | CTCTCTCT others(21): Show |
C | upstream_gene_variant | MODIFIER | NA18972.hp2 NA18995.hp2 NA19089.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0064 |
3 | 308 | 0.0097 | -28 | c.-40 others(39): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 3997 | chr2 | TogoVar | |||||||
C2orf92_chr2_97664713_97708066 | 97665717 | CTCTCTCT others(21): Show |
C | upstream_gene_variant | MODIFIER | NA19002.hp1 NA19054.hp1 NA19080.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0043 a0002c0002t0001g0052 |
3 | 308 | 0.0097 | -28 | c.-40 others(39): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 3995 | chr2 | TogoVar | |||||||
C2orf92_chr2_97664713_97708066 | 97665719 | CTCTCTCT others(21): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01192.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0009 others(6): Show |
10 | 304 | 0.0329 | -28 | c.-40 others(39): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 3993 | chr2 | TogoVar | |||||||
C2orf92_chr2_97664713_97708066 | 97665721 | CTCTCTCT others(21): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00642.hp2 HG01071.hp2 others(17): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0005a0003c0003others(2): Show | a0002c0002t0001a0002c0005t0001a0003c0003t0001others(2): Show | a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0009 others(13): Show |
20 | 304 | 0.0658 | -28 | c.-40 others(39): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 3991 | chr2 | TogoVar |