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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BTBD2_chr19_1980448_2020714 | 2015545 | GGCGGCGG others(4): Show |
G | frameshift_variant | HIGH | HG02602.hp1 | a0014 | a0014c0024 | a0014c0024t0002 | a0014c0024t0002g0015 | 1 | 364 | 0.0028 | -11 | c.148 others(18): Show |
p.Ala others(4): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 1/9 | 169/2629 | 148/1578 | 50/525 | chr19 | TogoVar | ||
BTBD2_chr19_1980448_2020714 | 2015548 | GGCGGCGG others(4): Show |
G | frameshift_variant | HIGH | NA19087.hp2 | a0015 | a0015c0022 | a0015c0022t0018 | a0015c0022t0018g0013 | 1 | 364 | 0.0028 | -11 | c.145 others(18): Show |
p.Ala others(4): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 1/9 | 166/2629 | 145/1578 | 49/525 | chr19 | TogoVar | ||
BTBD2_chr19_1980448_2020714 | 2018320 | ATTTTTTT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 HG03225.hp1 NA18522.hp1 others(1): Show |
a0003a0005a0013 | a0003c0006a0005c0010a0013c0023 | a0003c0006t0002a0003c0006t0004a0005c0010t0005others(1): Show | a0003c0006t0002g0140a0003c0006t0004g0141a0005c0010t0005g0116others(1): Show | 4 | 364 | 0.0110 | -11 | c.-26 others(22): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 2607 | chr19 | TogoVar | ||||||
BTBD2_chr19_1980448_2020714 | 2019619 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp2 others(59): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0011others(10): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0002others(18): Show | a0001c0001t0002g0263a0001c0003t0001g0240a0001c0003t0001g0314others(59): Show | 62 | 364 | 0.1703 | -11 | c.-39 others(22): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 3906 | chr19 | TogoVar | ||||||
BTBD7_chr14_93232550_93338036 | 93290511 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02027.hp1 HG03688.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0044 | a0002c0002t0008g0135a0002c0002t0008g0138a0002c0002t0008g0139others(6): Show | 9 | 375 | 0.0240 | -11 | c.116 others(30): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 3/10 | chr14 | TogoVar | ||||||
BTBD7_chr14_93232550_93338036 | 93310770 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00738.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0041 | a0001c0001t0004g0178a0001c0001t0004g0245a0001c0001t0004g0246others(2): Show | 5 | 375 | 0.0133 | -11 | c.-10 others(32): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
BTBD7_chr14_93232550_93338036 | 93320583 | GAGAATTA others(4): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02818.hp2 HG02886.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0010a0002c0002t0051a0002c0002t0053 | a0002c0002t0010g0258a0002c0002t0010g0260a0002c0002t0010g0261others(4): Show | 7 | 375 | 0.0187 | -11 | c.-10 others(32): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
BTBD8_chr1_92075345_92189723 | 92106660 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0006 | 1 | 158 | 0.0063 | -11 | c.545 others(28): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BTBD8_chr1_92075345_92189723 | 92119893 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02109.hp2 HG02258.hp2 others(8): Show |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0001a0003c0005t0003 | a0001c0003t0001g0029a0001c0003t0001g0030a0001c0003t0001g0031others(8): Show | 11 | 158 | 0.0696 | -11 | c.663 others(28): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BTBD8_chr1_92075345_92189723 | 92139932 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0011 | 1 | 158 | 0.0063 | -11 | c.833 others(26): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BTBD8_chr1_92075345_92189723 | 92175794 | CAAAAAAG others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG02145.hp2 others(1): Show |
a0001a0006 | a0001c0003a0006c0011 | a0001c0003t0003a0006c0011t0001 | a0001c0003t0003g0011a0001c0003t0003g0012a0006c0011t0001g0137others(1): Show | 4 | 158 | 0.0253 | -11 | c.163 others(30): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BTBD9_chr6_38163451_38644929 | 38171554 | GGGTGTGT others(4): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0185 | a0001c0001t0185g0173 | 1 | 224 | 0.0045 | -11 | c.*34 others(22): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 11/11 | 3420 | chr6 | TogoVar | |||||
BTBD9_chr6_38163451_38644929 | 38171846 | CAAAAAAA others(4): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG01109.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0101a0001c0001t0001g0197a0001c0001t0001g0198others(28): Show | 31 | 224 | 0.1384 | -11 | c.*31 others(22): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 11/11 | 3128 | chr6 | TogoVar | |||||
BTBD9_chr6_38163451_38644929 | 38171872 | AAAAAAAA others(4): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0170a0001c0001t0171 | a0001c0001t0170g0178a0001c0001t0171g0188 | 2 | 224 | 0.0089 | -11 | c.*31 others(22): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 11/11 | 3102 | chr6 | TogoVar | |||||
BTBD9_chr6_38163451_38644929 | 38171875 | AAAAAAAA others(4): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01255.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0208a0001c0001t0023g0222 | 2 | 224 | 0.0089 | -11 | c.*30 others(22): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 11/11 | 3099 | chr6 | TogoVar | |||||
BTBD9_chr6_38163451_38644929 | 38217318 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01256.hp1 HG03540.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0057a0001c0001t0058a0001c0001t0059others(2): Show | a0001c0001t0057g0066a0001c0001t0058g0041a0001c0001t0059g0223others(2): Show | 5 | 224 | 0.0223 | -11 | c.156 others(32): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 9/10 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38266614 | GAAAGAAA others(4): Show |
G | intron_variant | MODIFIER | HG02809.hp2 NA20805.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0174a0001c0001t0184 | a0001c0001t0003g0056a0001c0001t0174g0098a0001c0001t0184g0170 | 3 | 224 | 0.0134 | -11 | c.145 others(32): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 8/10 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38367799 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02280.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0025a0001c0001t0063others(6): Show | a0001c0001t0021g0088a0001c0001t0021g0091a0001c0001t0025g0123others(7): Show | 10 | 224 | 0.0446 | -11 | c.115 others(32): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38375892 | AAAGAAAG others(4): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0179 | 1 | 224 | 0.0045 | -11 | c.115 others(32): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38557015 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0125 | a0001c0001t0125g0029 | 1 | 224 | 0.0045 | -11 | c.115 others(32): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
BTC_chr4_74739759_74799523 | 74795264 | AAGAAAAG others(4): Show |
A | upstream_gene_variant | MODIFIER | HG01175.hp1 HG01934.hp2 HG01978.hp2 others(7): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0020others(2): Show | a0002c0002t0001g0101a0002c0002t0001g0102a0002c0002t0001g0104others(7): Show | 10 | 360 | 0.0278 | -11 | c.-95 others(20): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 742 | chr4 | TogoVar | ||||||
BTF3L4_chr1_52051295_52095716 | 52080519 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02818.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0065a0001c0001t0011g0061a0001c0001t0011g0062others(2): Show | 5 | 276 | 0.0181 | -11 | c.169 others(28): Show |
BTF3L4 | ENSG00000134717.18 | transcript | ENST00000313334.13 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BTF3_chr5_73493442_73510667 | 73504267 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG01891.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 3 | 408 | 0.0074 | -11 | c.518 others(24): Show |
BTF3 | ENSG00000145741.17 | transcript | ENST00000380591.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BTG2_chr1_203300519_203314602 | 203301989 | ATTTTTTT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02723.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0019 | a0001c0001t0001g0008a0001c0001t0003g0006a0001c0001t0019g0006 | 9 | 436 | 0.0206 | -11 | c.-36 others(22): Show |
BTG2 | ENSG00000159388.6 | transcript | ENST00000290551.5 | protein_coding | 3529 | chr1 | TogoVar | ||||||
BTN3A2_chr6_26360198_26383312 | 26374201 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG00741.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0018a0002c0002t0002others(4): Show | a0001c0001t0001g0198a0001c0004t0018g0209a0002c0002t0002g0004others(16): Show | 35 | 382 | 0.0916 | -11 | c.965 others(24): Show |
BTN3A2 | ENSG00000186470.14 | transcript | ENST00000377708.7 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BTNL2_chr6_32388339_32412181 | 32404054 | GTATTCCT others(4): Show |
G | intron_variant | MODIFIER | NA19001.hp1 | a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0185 | 1 | 453 | 0.0022 | -11 | c.428 others(26): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
BTNL2_chr6_32388339_32412181 | 32405805 | CTGTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG02040.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0117a0001c0001t0001g0118others(1): Show | 9 | 453 | 0.0199 | -11 | c.80- others(24): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
BTNL2_chr6_32388339_32412181 | 32406940 | GGCTTGGC others(4): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02559.hp2 others(6): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0044a0003c0004t0002g0077a0003c0004t0002g0078others(5): Show | 9 | 453 | 0.0199 | -11 | c.79+ others(23): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
BTNL8_chr5_180894159_180955906 | 180896323 | TTTTATTT others(4): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01071.hp1 others(22): Show |
a0002a0003a0004others(2): Show | a0002c0005a0003c0006a0004c0004others(3): Show | a0002c0005t0001a0003c0006t0001a0004c0004t0001others(4): Show | a0002c0005t0001g0061a0003c0006t0001g0021a0003c0006t0001g0145others(17): Show | 25 | 190 | 0.1316 | -11 | c.-29 others(22): Show |
BTNL8 | ENSG00000113303.12 | transcript | ENST00000340184.9 | protein_coding | 2835 | chr5 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101356935 | CCTGGCTA others(4): Show |
C | intron_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001 | 1 | 266 | 0.0038 | -11 | c.48+ others(26): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101368464 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(67): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0005 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(9): Show | a0001c0001t0002g0014a0001c0001t0002g0020a0001c0001t0002g0034others(67): Show | 70 | 266 | 0.2632 | -11 | c.48+ others(28): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTRC_chr10_101349165_101562313 | 101381962 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01167.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0118others(8): Show | 11 | 266 | 0.0414 | -11 | c.48+ others(28): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTRC_chr10_101349165_101562313 | 101443987 | TACCAGTC others(4): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0059a0001c0001t0006g0060 | 2 | 266 | 0.0075 | -11 | c.156 others(30): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101482385 | GTTTGTTT others(4): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0009 | 1 | 266 | 0.0038 | -11 | c.324 others(28): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTRC_chr10_101349165_101562313 | 101509243 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0259 | 1 | 266 | 0.0038 | -11 | c.325 others(30): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BTRC_chr10_101349165_101562313 | 101522366 | ACAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG01934.hp2 HG02056.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0008 | a0001c0001t0002g0054a0001c0001t0002g0062a0001c0001t0002g0071others(11): Show | 14 | 266 | 0.0526 | -11 | c.556 others(26): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 5/14 | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101522409 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 266 | 0.0038 | -11 | c.556 others(26): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BUB1B_chr15_40156069_40226123 | 40193468 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02258.hp1 HG02451.hp1 others(6): Show |
a0005 | a0005c0006 | a0005c0006t0001a0005c0006t0002 | a0005c0006t0001g0026a0005c0006t0001g0027a0005c0006t0001g0028others(6): Show | 9 | 352 | 0.0256 | -11 | c.105 others(30): Show |
BUB1B | ENSG00000156970.13 | transcript | ENST00000287598.11 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BUD23_chr7_73678597_73703212 | 73684923 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp2 HG00738.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0011a0001c0001t0002g0102a0001c0001t0002g0165others(8): Show | 21 | 374 | 0.0562 | -11 | c.86+ others(26): Show |
BUD23 | ENSG00000071462.13 | transcript | ENST00000265758.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BZW1_chr2_200806910_200832338 | 200826394 | TAGATAGA others(4): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0001 | 1 | 388 | 0.0026 | -11 | c.*42 others(22): Show |
BZW1 | ENSG00000082153.18 | transcript | ENST00000409600.6 | protein_coding | 12/12 | 4217 | chr2 | TogoVar | |||||
BZW1_chr2_200806910_200832338 | 200826395 | AGATAGAT others(4): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG01071.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022a0001c0001t0050others(6): Show | a0001c0001t0002g0001a0001c0001t0022g0001a0001c0001t0050g0001others(6): Show | 37 | 388 | 0.0954 | -11 | c.*42 others(22): Show |
BZW1 | ENSG00000082153.18 | transcript | ENST00000409600.6 | protein_coding | 12/12 | 4218 | chr2 | TogoVar | |||||
BZW1_chr2_200806910_200832338 | 200826401 | ATAGATAT others(4): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02622.hp2 HG03540.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0059a0001c0001t0136 | a0001c0001t0059g0006a0001c0001t0136g0006 | 3 | 388 | 0.0077 | -11 | c.*42 others(22): Show |
BZW1 | ENSG00000082153.18 | transcript | ENST00000409600.6 | protein_coding | 12/12 | 4225 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
BZW2_chr7_16641181_16711517 | 16647917 | CACTGGGG others(4): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01069.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0002g0001a0001c0001t0002g0010others(10): Show | 19 | 418 | 0.0455 | -11 | c.-8+ others(26): Show |
BZW2 | ENSG00000136261.16 | transcript | ENST00000258761.8 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
C10orf120_chr10_122692709_122704846 | 122699140 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 446 | 0.0022 | -11 | c.252 others(26): Show |
C10orf120 | ENSG00000183559.12 | transcript | ENST00000329446.5 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126477076 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG02451.hp2 HG02976.hp2 others(6): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0003t0001others(4): Show | a0001c0001t0001g0011a0001c0001t0003g0199a0002c0003t0001g0200others(6): Show | 9 | 218 | 0.0413 | -11 | c.153 others(32): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 4/9 | chr10 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126565097 | TAATATAT others(4): Show |
T | intron_variant | MODIFIER | HG02630.hp2 NA18522.hp1 |
a0003 | a0003c0002a0003c0013 | a0003c0002t0005a0003c0013t0002 | a0003c0002t0005g0025a0003c0013t0002g0151 | 2 | 218 | 0.0092 | -11 | c.314 others(30): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126649058 | CTCTCTCT others(4): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG02055.hp2 HG02615.hp2 others(1): Show |
a0002a0003a0005others(1): Show | a0002c0011a0003c0002a0005c0006others(1): Show | a0002c0011t0001a0003c0002t0005a0005c0006t0001others(1): Show | a0002c0011t0001g0163a0003c0002t0005g0025a0005c0006t0001g0005others(1): Show | 4 | 218 | 0.0184 | -11 | c.241 others(28): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126649060 | CTCTCTCT others(4): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03195.hp2 |
a0002a0006 | a0002c0004a0006c0007 | a0002c0004t0001a0006c0007t0003 | a0002c0004t0001g0113a0006c0007t0003g0114 | 2 | 218 | 0.0092 | -11 | c.241 others(28): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
C10orf95_chr10_102444837_102456543 | 102450822 | GCGGCGCA others(4): Show |
G | frameshift_variant | HIGH | HG03579.hp1 | a0000 | a0000c0004 | a0000c0004t0002 | a0000c0004t0002g0014 | 1 | 452 | 0.0022 | -11 | c.261 others(18): Show |
p.Pro others(4): Show |
C10orf95 | ENSG00000120055.7 | transcript | ENST00000625129.1 | protein_coding | 2/2 | 483/1469 | 261/642 | 87/213 | chr10 | TogoVar | ||
C11orf16_chr11_8915076_8937947 | 8922730 | TAAACATC others(4): Show |
T | intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 410 | 0.0024 | -11 | c.120 others(30): Show |
C11orf16 | ENSG00000176029.14 | transcript | ENST00000326053.10 | protein_coding | 5/6 | chr11 | TogoVar |