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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V0D2_chr8_86093910_86159225 | 86094209 | CCTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(124): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(121): Show | 127 | 360 | 0.3528 | -3 | c.-47 others(14): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 4700 | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86101462 | GAAA | G | intron_variant | MODIFIER | HG01081.hp2 HG02145.hp1 HG02615.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0019a0001c0001t0001g0110a0001c0001t0001g0116others(11): Show | 14 | 360 | 0.0389 | -3 | c.130 others(20): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86118082 | TTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG01243.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0031a0001c0001t0001g0037others(18): Show | 21 | 360 | 0.0583 | -3 | c.302 others(20): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86121578 | AAGG | A | intron_variant | MODIFIER | HG04115.hp2 NA18972.hp2 NA19012.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232a0001c0001t0002g0233a0001c0001t0002g0242others(2): Show | 5 | 360 | 0.0139 | -3 | c.302 others(20): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86145282 | AAAG | A | intron_variant | MODIFIER | HG01070.hp2 HG01993.hp1 HG02165.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0012a0001c0001t0001g0118a0001c0001t0001g0124others(5): Show | 8 | 360 | 0.0222 | -3 | c.639 others(20): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86145290 | AAAG | A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01074.hp1 others(47): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0025a0001c0001t0001g0028a0001c0001t0001g0052others(47): Show | 50 | 360 | 0.1389 | -3 | c.639 others(20): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86145298 | AAAG | A | intron_variant | MODIFIER | HG01934.hp2 HG02523.hp1 NA18942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0195a0001c0001t0001g0205a0001c0001t0001g0272others(2): Show | 5 | 360 | 0.0139 | -3 | c.639 others(20): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86145315 | AAAG | A | intron_variant | MODIFIER | HG00735.hp1 HG02486.hp1 HG03195.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0001 | a0001c0001t0002g0265a0003c0003t0001g0293a0003c0003t0001g0294others(1): Show | 4 | 360 | 0.0111 | -3 | c.639 others(20): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86151752 | TTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp2 HG00733.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0179a0001c0001t0002g0180a0001c0001t0002g0182others(16): Show | 19 | 360 | 0.0528 | -3 | c.891 others(18): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86151755 | CTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG02896.hp1 HG03041.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001 | a0001c0001t0005g0287a0001c0001t0005g0288a0001c0001t0005g0289others(4): Show | 7 | 360 | 0.0194 | -3 | c.891 others(18): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 172998609 | TAAA | T | intron_variant | MODIFIER | HG00408.hp1 HG01109.hp2 HG01123.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007others(52): Show | 57 | 292 | 0.1952 | -3 | c.152 others(20): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173009765 | CTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01891.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0271a0001c0001t0001g0277a0001c0001t0001g0278others(4): Show | 7 | 292 | 0.0240 | -3 | c.153 others(22): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173024214 | AAAG | A | intron_variant | MODIFIER | HG01261.hp2 HG02129.hp1 HG02135.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0041a0001c0001t0001g0063a0001c0001t0001g0069others(10): Show | 13 | 292 | 0.0445 | -3 | c.*36 others(20): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173027178 | CAAA | C | intron_variant | MODIFIER | HG02683.hp1 HG03130.hp1 HG03239.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0264a0001c0001t0001g0265a0001c0001t0001g0266others(3): Show | 6 | 292 | 0.0206 | -3 | c.*36 others(20): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173032254 | TTTA | T | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00741.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(45): Show | 50 | 292 | 0.1712 | -3 | c.*37 others(20): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173032262 | TTTA | T | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0005a0001c0001t0001g0249a0001c0001t0002g0238others(1): Show | 5 | 292 | 0.0171 | -3 | c.*37 others(20): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E2_chr7_149868969_149885695 | 149872075 | ATTT | A | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01361.hp2 HG01952.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0019others(9): Show | 15 | 438 | 0.0343 | -3 | c.-19 others(14): Show |
ATP6V0E2 | ENSG00000171130.19 | transcript | ENST00000425642.3 | protein_coding | 1893 | chr7 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113752021 | GTAT | G | intron_variant | MODIFIER | NA18961.hp1 NA18980.hp1 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169a0001c0001t0001g0170a0001c0001t0001g0171 | 3 | 312 | 0.0096 | -3 | c.-14 others(20): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1A_chr3_113742035_113817056 | 113770377 | GAAC | G | intron_variant | MODIFIER | HG01891.hp2 HG03098.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0019 | a0001c0001t0007g0281a0001c0001t0007g0282a0001c0001t0019g0283 | 3 | 312 | 0.0096 | -3 | c.-13 others(20): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1A_chr3_113742035_113817056 | 113791708 | TCTC | T | intron_variant | MODIFIER | HG01934.hp2 HG01952.hp1 HG02040.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0137a0001c0001t0001g0183a0001c0001t0001g0224others(5): Show | 9 | 312 | 0.0289 | -3 | c.988 others(20): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1A_chr3_113742035_113817056 | 113803746 | TAAA | T | intron_variant | MODIFIER | HG02145.hp2 HG02698.hp2 HG02738.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022a0001c0001t0023 | a0001c0001t0003g0119a0001c0001t0003g0120a0001c0001t0003g0121others(10): Show | 13 | 312 | 0.0417 | -3 | c.158 others(18): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1A_chr3_113742035_113817056 | 113813467 | CAGG | C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG03098.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0019 | a0001c0001t0007g0281a0001c0001t0007g0282a0001c0001t0019g0283 | 3 | 312 | 0.0096 | -3 | c.*40 others(14): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1412 | chr3 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113813733 | CTTG | C | downstream_gene_variant | MODIFIER | HG01106.hp1 HG02818.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0021a0001c0001t0004g0022a0001c0001t0004g0023others(3): Show | 6 | 312 | 0.0192 | -3 | c.*43 others(14): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1678 | chr3 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70934062 | CAAA | C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0025a0001c0001t0001g0027a0001c0001t0001g0028others(8): Show | 11 | 440 | 0.0250 | -3 | c.-18 others(14): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1837 | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70934075 | AAAT | A | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01243.hp1 others(10): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0002c0006others(4): Show | a0001c0001t0001a0002c0003t0001a0002c0006t0001others(4): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0035others(9): Show | 13 | 440 | 0.0296 | -3 | c.-18 others(14): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1824 | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70934077 | ATAT | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(109): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(12): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(13): Show | a0001c0001t0001g0032a0001c0002t0001g0041a0002c0003t0001g0280others(105): Show | 112 | 440 | 0.2546 | -3 | c.-18 others(14): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1822 | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70957087 | CTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp1 HG01167.hp2 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0035others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0035t0004others(6): Show | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0029others(21): Show | 26 | 440 | 0.0591 | -3 | c.175 others(18): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70965548 | TAAA | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02809.hp1 others(7): Show |
a0001a0002a0003 | a0001c0017a0002c0012a0003c0022 | a0001c0017t0004a0001c0017t0009a0002c0012t0005others(2): Show | a0001c0017t0004g0046a0001c0017t0009g0124a0002c0012t0005g0273others(7): Show | 10 | 440 | 0.0227 | -3 | c.*42 others(12): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 118 | chr2 | TogoVar | ||||||
ATP6V1C1_chr8_103016083_103078051 | 103030668 | CGAG | C | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0044a0001c0002t0006g0281 | 3 | 412 | 0.0073 | -3 | c.-40 others(20): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103035317 | ATTG | A | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0023others(5): Show | a0001c0001t0003g0286a0001c0001t0004g0288a0001c0001t0023g0287others(16): Show | 28 | 412 | 0.0680 | -3 | c.-39 others(20): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103046677 | AATC | A | intron_variant | MODIFIER | HG01358.hp1 HG01884.hp1 HG02145.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0032 | a0001c0001t0011g0081a0001c0001t0011g0082a0001c0001t0011g0084others(1): Show | 4 | 412 | 0.0097 | -3 | c.201 others(20): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103047421 | AATG | A | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00642.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0040others(42): Show | 56 | 412 | 0.1359 | -3 | c.201 others(20): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
ATP6V1C1_chr8_103016083_103078051 | 103047460 | ACAC | A | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01099.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0015a0001c0001t0005g0016a0001c0001t0005g0019others(8): Show | 19 | 412 | 0.0461 | -3 | c.201 others(20): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
ATP6V1C1_chr8_103016083_103078051 | 103050719 | TGAG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026a0001c0001t0027others(2): Show | a0001c0001t0002g0003a0001c0001t0002g0008a0001c0001t0002g0014others(59): Show | 85 | 412 | 0.2063 | -3 | c.287 others(18): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103062161 | GTTT | G | intron_variant | MODIFIER | HG01261.hp1 HG02132.hp2 HG03209.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0007a0001c0001t0030a0003c0007t0007 | a0001c0001t0007g0006a0001c0001t0007g0272a0001c0001t0007g0273others(4): Show | 10 | 412 | 0.0243 | -3 | c.642 others(18): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10728962 | CAAA | C | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp1 NA18960.hp1 others(4): Show |
a0001a0002a0007 | a0001c0001a0002c0018a0007c0017 | a0001c0001t0001a0001c0001t0026a0002c0018t0013others(1): Show | a0001c0001t0001g0296a0001c0001t0001g0297a0001c0001t0001g0298others(4): Show | 7 | 354 | 0.0198 | -3 | c.197 others(20): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10730653 | CTTT | C | intron_variant | MODIFIER | HG01256.hp1 HG01496.hp2 HG01884.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0144a0001c0001t0002g0174a0001c0001t0002g0175others(8): Show | 11 | 354 | 0.0311 | -3 | c.197 others(20): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10736801 | CTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00639.hp1 others(52): Show |
a0001a0002a0007 | a0001c0001a0001c0016a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(21): Show | a0001c0001t0001g0296a0001c0001t0001g0297a0001c0001t0001g0298others(52): Show | 55 | 354 | 0.1554 | -3 | c.197 others(22): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10737260 | CAAA | C | intron_variant | MODIFIER | HG01255.hp2 HG01496.hp2 HG01884.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0071a0001c0001t0002g0202a0001c0001t0006g0101others(10): Show | 13 | 354 | 0.0367 | -3 | c.197 others(22): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10743981 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(187): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0015others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0030a0001c0001t0001g0047a0001c0001t0001g0050others(186): Show | 190 | 354 | 0.5367 | -3 | c.198 others(20): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10743995 | AAAT | A | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02647.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0008a0002c0002t0004a0002c0002t0007others(3): Show | a0001c0001t0008g0245a0002c0002t0004g0238a0002c0002t0004g0239others(4): Show | 7 | 354 | 0.0198 | -3 | c.198 others(20): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10749664 | ATTC | A | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 NA19030.hp1 |
a0001a0002 | a0001c0001a0001c0015a0002c0002 | a0001c0001t0007a0001c0015t0006a0002c0002t0024 | a0001c0001t0007g0237a0001c0015t0006g0247a0002c0002t0024g0235 | 3 | 354 | 0.0085 | -3 | c.198 others(20): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10749823 | GTAT | G | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG00741.hp1 others(3): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0002 | a0002c0002t0001g0261a0002c0002t0001g0274a0002c0002t0001g0276others(3): Show | 6 | 354 | 0.0170 | -3 | c.198 others(20): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10756372 | AAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(84): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0013others(84): Show | 87 | 354 | 0.2458 | -3 | c.283 others(20): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10757003 | CTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00673.hp2 others(26): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(11): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0064others(26): Show | 29 | 354 | 0.0819 | -3 | c.283 others(20): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10757412 | CTTA | C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp1 others(78): Show |
a0001a0002a0006 | a0001c0001a0001c0016a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0025a0001c0001t0001g0047others(77): Show | 81 | 354 | 0.2288 | -3 | c.283 others(20): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10762834 | GTCC | G | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG02257.hp2 others(1): Show |
a0002 | a0002c0002a0002c0003a0002c0005 | a0002c0002t0003a0002c0002t0008a0002c0003t0004others(1): Show | a0002c0002t0003g0243a0002c0002t0008g0242a0002c0003t0004g0135others(1): Show | 4 | 354 | 0.0113 | -3 | c.284 others(20): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10782829 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(66): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0011a0002c0002t0002others(3): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0016others(64): Show | 69 | 354 | 0.1949 | -3 | c.119 others(20): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10789980 | ATTT | A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00597.hp2 others(64): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0002a0001c0006t0005a0002c0002t0002others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0018a0001c0001t0002g0059others(63): Show | 67 | 354 | 0.1893 | -3 | c.*67 others(14): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 4871 | chr2 | TogoVar | ||||||
ATP6V1D_chr14_67332872_67364804 | 67355449 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(106): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0008a0001c0001t0001g0019a0001c0001t0001g0020others(57): Show | 109 | 348 | 0.3132 | -3 | c.42- others(18): Show |
ATP6V1D | ENSG00000100554.12 | transcript | ENST00000216442.12 | protein_coding | 1/8 | chr14 | TogoVar |