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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BTBD19_chr1_44803523_44820585 | 44814450 | A | ATAAGCAG others(26): Show |
3_prime_UTR_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0039 | 1 | 434 | 0.0023 | 33 | c.*67 others(42): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 8/8 | 679 | chr1 | TogoVar | ||||||
BTBD2_chr19_1980448_2020714 | 2017817 | A | ATATATAT others(26): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0238 | 1 | 195 | 0.0051 | 33 | c.-21 others(44): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 2104 | chr19 | TogoVar | |||||||
BTBD2_chr19_1980448_2020714 | 2017817 | A | ATATATAT others(26): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0331 | 1 | 195 | 0.0051 | 33 | c.-21 others(44): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 2104 | chr19 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74798909 | T | TGTTTTTG others(26): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | 265 | 0.0075 | 33 | c.-45 others(44): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 4387 | chr4 | TogoVar | |||||||
BTD_chr3_15596745_15658714 | 15656442 | C | CGGGAGGA others(26): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0004 | 1 | 414 | 0.0024 | 33 | c.*10 others(46): Show |
BTD | ENSG00000169814.17 | transcript | ENST00000643237.3 | protein_coding | 2729 | chr3 | TogoVar | |||||||
BTRC_chr10_101349165_101562313 | 101387528 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0237 | 1 | 2 | 0.5000 | 33 | c.48+ others(50): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101549713 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0013 | 1 | 49 | 0.0204 | 33 | c.165 others(50): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BUB1B_chr15_40156069_40226123 | 40172120 | T | TAAAGTAA others(26): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0239 | 1 | 350 | 0.0029 | 33 | c.384 others(50): Show |
BUB1B | ENSG00000156970.13 | transcript | ENST00000287598.11 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BUB3_chr10_123149402_123175467 | 123156753 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0047 | 1 | 293 | 0.0034 | 33 | c.266 others(48): Show |
BUB3 | ENSG00000154473.18 | transcript | ENST00000368865.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23308386 | T | TCCCCCCC others(26): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 324 | 0.0031 | 33 | c.547 others(50): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 4/15 | chr10 | TogoVar | |||||||
C10orf90_chr10_126419997_126675693 | 126532842 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18941.hp1 NA19000.hp1 NA19000.hp2 others(1): Show |
a0001a0003a0005 | a0001c0001a0003c0002a0005c0006 | a0001c0001t0001a0003c0002t0004a0005c0006t0009 | a0001c0001t0001g0066 a0003c0002t0004g0084 a0005c0006t0009g0090 others(1): Show |
4 | 31 | 0.1290 | 33 | c.314 others(52): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
C11orf71_chr11_114393532_114405511 | 114394228 | C | CTTTCTTT others(26): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 214 | 0.0047 | 33 | c.*57 others(44): Show |
C11orf71 | ENSG00000180425.11 | transcript | ENST00000623205.2 | protein_coding | 4303 | chr11 | TogoVar | |||||||
C11orf71_chr11_114393532_114405511 | 114394243 | T | TTTTCTTT others(26): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 2 | 411 | 0.0049 | 33 | c.*57 others(44): Show |
C11orf71 | ENSG00000180425.11 | transcript | ENST00000623205.2 | protein_coding | 4288 | chr11 | TogoVar | |||||||
C12orf40_chr12_39621183_39726914 | 39653558 | T | TTCTTTCT others(26): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0032 |
4 | 130 | 0.0308 | 33 | c.686 others(50): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf56_chr12_64259762_64395758 | 64308940 | G | GAAAGAAA others(26): Show |
intron_variant | MODIFIER | HG01515.hp1 NA18951.hp2 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0003a0003c0004t0001 | a0002c0002t0003g0219 a0003c0004t0001g0009 |
2 | 70 | 0.0286 | 33 | c.968 others(50): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
C14orf39_chr14_60430956_60491063 | 60434705 | A | ATAGTTAT others(26): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG01106.hp1 others(71): Show |
a0003a0004a0012 | a0003c0004a0004c0003a0012c0008 | a0003c0004t0002a0003c0004t0004a0003c0004t0005others(4): Show | a0003c0004t0002g0005 a0003c0004t0002g0008 a0003c0004t0002g0034 others(46): Show |
74 | 199 | 0.3719 | 33 | c.*21 others(44): Show |
C14orf39 | ENSG00000179008.9 | transcript | ENST00000321731.8 | protein_coding | 1250 | chr14 | TogoVar | |||||||
C17orf78_chr17_37370985_37397708 | 37390304 | T | TTTTATAT others(26): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0004g0087 |
2 | 283 | 0.0071 | 33 | c.750 others(48): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C19orf38_chr19_10843415_10874790 | 10871637 | G | GGCGGCGG others(26): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 376 | 0.0027 | 33 | c.*22 others(44): Show |
C19orf38 | ENSG00000214212.9 | transcript | ENST00000397820.5 | protein_coding | 1848 | chr19 | TogoVar | |||||||
C1QTNF6_chr22_37175166_37193247 | 37191987 | G | GTTATACT others(26): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0078 | 1 | 444 | 0.0023 | 33 | c.-38 others(44): Show |
C1QTNF6 | ENSG00000133466.14 | transcript | ENST00000337843.7 | protein_coding | 3741 | chr22 | TogoVar | |||||||
C1orf100_chr1_244347635_244394663 | 244373332 | T | TTTATATA others(26): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 133 | 0.0075 | 33 | c.57- others(48): Show |
C1orf100 | ENSG00000173728.11 | transcript | ENST00000308105.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1078805 | A | AGGCTGAG others(26): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 314 | 0.0032 | 33 | c.*40 others(44): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3017 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1108790 | C | CGTTCACC others(26): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02922.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011 a0001c0001t0002g0237 a0001c0001t0002g0238 |
3 | 222 | 0.0135 | 33 | c.-13 others(52): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
C1orf185_chr1_51097228_51153086 | 51111370 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 214 | 0.0047 | 33 | c.17- others(48): Show |
C1orf185 | ENSG00000204006.11 | transcript | ENST00000371759.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf21_chr1_184382029_184634019 | 184559603 | C | CTTCCTTC others(26): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG01255.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0011others(5): Show | a0001c0001t0007g0024 a0001c0001t0007g0137 a0001c0001t0007g0210 others(14): Show |
17 | 228 | 0.0746 | 33 | c.190 others(52): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf54_chr1_150267790_150285916 | 150284003 | T | TTTATTAT others(26): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 369 | 0.0027 | 33 | c.*31 others(44): Show |
C1orf54 | ENSG00000118292.9 | transcript | ENST00000369099.8 | protein_coding | 3088 | chr1 | TogoVar | |||||||
C21orf58_chr21_46296130_46328870 | 46298434 | C | CTTTTTTT others(26): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01361.hp2 HG02004.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 a0002c0002t0001g0090 a0002c0002t0001g0091 others(8): Show |
11 | 181 | 0.0608 | 33 | c.*35 others(44): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 2695 | chr21 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32146142 | A | ATATTATA others(26): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0073 | 1 | 396 | 0.0025 | 33 | c.*33 others(44): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 2863 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(26): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0011 | 1 | 114 | 0.0088 | 33 | c.*16 others(44): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(26): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0011 | 1 | 114 | 0.0088 | 33 | c.*16 others(44): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947112 | T | TTCTCTCC others(26): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0320 | 1 | 239 | 0.0042 | 33 | c.280 others(50): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947137 | T | TCTCTCTC others(26): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0125 | 1 | 116 | 0.0086 | 33 | c.280 others(50): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404125 | T | TGGGGGGG others(26): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0029 | 1 | 184 | 0.0054 | 33 | c.*29 others(44): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1319 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404139 | T | TCCTGTCC others(26): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02622.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0001t0041a0001c0001t0052others(5): Show | a0001c0001t0015g0010 a0001c0001t0041g0034 a0001c0001t0052g0158 others(5): Show |
8 | 251 | 0.0319 | 33 | c.*29 others(44): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1305 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404964 | G | GGGGACGG others(26): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0140 | a0001c0001t0006g0005 a0001c0001t0140g0113 |
2 | 284 | 0.0070 | 33 | c.*21 others(44): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 480 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 405002 | T | TGGGGTCC others(26): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG01123.hp2 HG01884.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0012a0001c0001t0014a0001c0001t0016others(16): Show | a0001c0001t0012g0029 a0001c0001t0014g0009 a0001c0001t0016g0014 others(16): Show |
20 | 133 | 0.1504 | 33 | c.*20 others(44): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 442 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 405043 | C | CCCTGAGG others(26): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0010 | 1 | 292 | 0.0034 | 33 | c.*20 others(44): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 401 | chr19 | TogoVar | |||||||
C2orf69_chr2_199906293_199933273 | 199913285 | T | TTATATAA others(26): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00738.hp2 others(7): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0215 a0001c0001t0003g0161 a0001c0001t0003g0162 others(6): Show |
10 | 405 | 0.0247 | 33 | c.333 others(50): Show |
C2orf69 | ENSG00000178074.6 | transcript | ENST00000319974.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf69_chr2_199906293_199933273 | 199913308 | A | AATATATA others(26): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01975.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 a0001c0001t0003g0210 a0001c0001t0003g0211 |
5 | 410 | 0.0122 | 33 | c.333 others(50): Show |
C2orf69 | ENSG00000178074.6 | transcript | ENST00000319974.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C3orf20_chr3_14670141_14778036 | 14773557 | A | AGGGGAGG others(26): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01071.hp2 others(24): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0349 a0001c0001t0002g0098 a0001c0001t0003g0010 others(23): Show |
27 | 220 | 0.1227 | 33 | c.*68 others(42): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 522 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185079280 | C | CAAAAAAA others(26): Show |
3_prime_UTR_variant | MODIFIER | HG02004.hp2 HG02647.hp2 NA18986.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0017a0002c0002t0093 | a0002c0002t0017g0255 a0002c0002t0017g0272 a0002c0002t0017g0344 others(1): Show |
4 | 259 | 0.0154 | 33 | c.*37 others(44): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 2/2 | 3726 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185120033 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0022 | 1 | 40 | 0.0250 | 33 | c.196 others(52): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0193 | 1 | 55 | 0.0182 | 33 | c.715 others(50): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6003860 | G | GTGATGGT others(26): Show |
intron_variant | MODIFIER | NA18949.hp1 NA19001.hp1 NA19080.hp1 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0001 | a0001c0001t0001g0140 a0001c0001t0001g0169 a0006c0006t0001g0111 |
3 | 91 | 0.0330 | 33 | c.963 others(50): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
C5orf46_chr5_147887722_147911538 | 147911208 | G | GTCTTCTA others(26): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0017 | 1 | 73 | 0.0137 | 33 | c.-47 others(44): Show |
C5orf46 | ENSG00000178776.5 | transcript | ENST00000318315.5 | protein_coding | 4671 | chr5 | TogoVar | |||||||
C7_chr5_40904497_40989643 | 40926953 | A | AAAAAGAA others(26): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02886.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001a0001c0025 | a0001c0001t0005a0001c0001t0012a0001c0025t0011 | a0001c0001t0005g0367 a0001c0001t0005g0368 a0001c0001t0005g0369 others(2): Show |
5 | 378 | 0.0132 | 33 | c.7-1 others(46): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56870681 | T | TAAATTAA others(26): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 353 | 0.0028 | 33 | c.171 others(50): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
C8orf34_chr8_68325955_68824023 | 68332351 | T | TCCCGCCT others(26): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01081.hp1 others(37): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 others(37): Show |
40 | 93 | 0.4301 | 33 | c.327 others(50): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51831667 | A | AAGCAGCA others(26): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0074 | 1 | 37 | 0.0270 | 33 | c.280 others(52): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CA5A_chr16_87883013_87941529 | 87937802 | T | TCTTTCTT others(26): Show |
upstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 392 | 0.0026 | 33 | c.-13 others(44): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 1274 | chr16 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49441226 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0104 | 1 | 286 | 0.0035 | 33 | c.-24 others(52): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 1/10 | chr13 | TogoVar |