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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD17C_chr15_80690310_80760621 | 80723138 | A | ATGTGTG | intron_variant | MODIFIER | HG01109.hp1 HG01361.hp1 HG01978.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0064a0001c0001t0001g0157a0001c0001t0001g0170others(6): Show | 9 | 360 | 0.0250 | 6 | c.591 others(25): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89127706 | C | CATATAT | intron_variant | MODIFIER | HG01884.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0094a0001c0001t0008g0102 | 2 | 234 | 0.0086 | 6 | c.194 others(25): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89127718 | T | TATACAC | intron_variant | MODIFIER | NA18906.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0227a0001c0001t0010g0032 | 2 | 234 | 0.0086 | 6 | c.194 others(25): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89127722 | C | CACATAT | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01099.hp2 others(29): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0044others(29): Show | 32 | 234 | 0.1368 | 6 | c.194 others(25): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89127722 | C | CATATAT | intron_variant | MODIFIER | HG02735.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0042 | a0001c0001t0011g0138a0001c0001t0042g0057 | 2 | 234 | 0.0086 | 6 | c.194 others(25): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89135143 | C | CTTTTCT | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01884.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0097others(16): Show | 19 | 234 | 0.0812 | 6 | c.195 others(25): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89146355 | C | CGTGTGT | intron_variant | MODIFIER | HG01433.hp1 HG02809.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0118a0001c0001t0002g0024a0001c0001t0004g0013others(2): Show | 5 | 234 | 0.0214 | 6 | c.195 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89149214 | A | AACACAC | intron_variant | MODIFIER | HG02004.hp1 HG02602.hp2 HG02735.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0060a0001c0001t0001g0075a0001c0001t0001g0087others(10): Show | 13 | 234 | 0.0556 | 6 | c.195 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89170080 | C | CTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01258.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0015a0001c0001t0001g0074others(16): Show | 19 | 234 | 0.0812 | 6 | c.539 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89205128 | T | TTCTCTC | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG03041.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0072others(19): Show | 22 | 234 | 0.0940 | 6 | c.*97 others(17): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21653077 | A | AAAAAAG | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01106.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0036a0001c0001t0001g0043a0001c0001t0001g0044others(52): Show | 55 | 304 | 0.1809 | 6 | c.105 others(25): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 8/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21668200 | C | CAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01109.hp1 HG01243.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0045a0001c0001t0002g0147a0001c0001t0002g0149others(16): Show | 19 | 304 | 0.0625 | 6 | c.556 others(23): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21668217 | A | AAAAAAG | intron_variant | MODIFIER | HG01070.hp2 HG01169.hp2 HG01891.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0108a0001c0001t0001g0117others(7): Show | 11 | 304 | 0.0362 | 6 | c.556 others(23): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21680851 | A | AATGTGT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00741.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0039a0001c0001t0001g0040others(20): Show | 24 | 304 | 0.0790 | 6 | c.555 others(23): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21689549 | C | CAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG01928.hp2 HG02074.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009 | a0001c0001t0002g0147a0001c0001t0002g0219a0001c0001t0002g0236others(6): Show | 9 | 304 | 0.0296 | 6 | c.510 others(23): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43715085 | C | CTGTGTG | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01192.hp1 others(10): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0106a0001c0001t0002g0040a0001c0001t0002g0121others(10): Show | 13 | 286 | 0.0455 | 6 | c.773 others(19): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58252229 | G | GTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG00738.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0228a0001c0001t0001g0235a0001c0001t0001g0248others(7): Show | 10 | 302 | 0.0331 | 6 | c.-26 others(23): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58271766 | G | GTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0235a0001c0001t0001g0248a0001c0001t0002g0073others(29): Show | 32 | 302 | 0.1060 | 6 | c.523 others(21): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58284874 | T | TATAATA | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0252a0001c0001t0001g0274a0001c0001t0013g0253 | 3 | 302 | 0.0099 | 6 | c.682 others(21): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD8_chr19_17287131_17308425 | 17301776 | T | TTGTGTG | intron_variant | MODIFIER | HG00408.hp1 HG01257.hp1 HG01258.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0012others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0167a0001c0001t0004g0023a0001c0001t0004g0024others(21): Show | 27 | 386 | 0.0700 | 6 | c.-8- others(19): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761617 | C | CATATAT | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01175.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0187a0001c0001t0002g0166a0001c0001t0002g0167others(17): Show | 20 | 358 | 0.0559 | 6 | c.821 others(23): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TACACAC | intron_variant | MODIFIER | HG02615.hp1 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0164a0001c0001t0001g0232a0001c0001t0008g0016 | 3 | 358 | 0.0084 | 6 | c.821 others(23): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TATACAC | intron_variant | MODIFIER | HG00735.hp1 HG02056.hp2 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0001g0133a0001c0001t0001g0160others(3): Show | 6 | 358 | 0.0168 | 6 | c.821 others(23): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26816986 | T | TTGTGTG | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG01928.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0019others(18): Show | 21 | 358 | 0.0587 | 6 | c.285 others(23): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26818631 | C | CAAAAAA | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp2 HG01192.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0004g0075a0001c0001t0004g0077a0001c0001t0004g0078others(23): Show | 26 | 358 | 0.0726 | 6 | c.285 others(23): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26833769 | T | TACACAC | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG02572.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0004g0077a0001c0001t0004g0078a0001c0001t0004g0096others(8): Show | 11 | 358 | 0.0307 | 6 | c.118 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26834548 | A | AACACAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0031others(20): Show | 23 | 358 | 0.0643 | 6 | c.118 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26851348 | A | ATTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006 | a0001c0001t0003g0003a0001c0001t0003g0005a0001c0001t0003g0006others(15): Show | 18 | 358 | 0.0503 | 6 | c.117 others(23): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26858454 | C | CTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG02015.hp1 HG02015.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0020others(39): Show | 42 | 358 | 0.1173 | 6 | c.117 others(23): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203331348 | C | CTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0186a0001c0001t0001g0207a0001c0001t0001g0218others(57): Show | 60 | 320 | 0.1875 | 6 | c.117 others(23): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203358071 | T | TTGTGTG | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02027.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0140a0001c0001t0002g0002a0001c0001t0002g0035others(19): Show | 22 | 320 | 0.0688 | 6 | c.118 others(23): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203370186 | T | TTCTCTC | intron_variant | MODIFIER | HG02083.hp1 HG02486.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0023 | a0001c0001t0002g0018a0001c0001t0002g0032a0001c0001t0002g0035others(4): Show | 7 | 320 | 0.0219 | 6 | c.285 others(23): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203385139 | C | CTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00642.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0030others(2): Show | a0001c0001t0002g0193a0001c0001t0002g0194a0001c0001t0002g0197others(33): Show | 36 | 320 | 0.1125 | 6 | c.480 others(23): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203392275 | T | TCACCAC | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00733.hp2 others(49): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0224a0001c0001t0001g0270a0001c0001t0001g0298others(49): Show | 52 | 320 | 0.1625 | 6 | c.578 others(23): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203392314 | C | CCAACAA | intron_variant | MODIFIER | HG03098.hp2 HG03491.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0008a0001c0001t0002g0052a0001c0001t0004g0148 | 3 | 320 | 0.0094 | 6 | c.578 others(23): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203395432 | A | AATATAT | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0098a0001c0001t0009g0158a0001c0001t0009g0159others(1): Show | 4 | 320 | 0.0125 | 6 | c.726 others(21): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203434056 | C | CTATCTA | downstream_gene_variant | MODIFIER | HG01515.hp1 HG03225.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181a0001c0001t0001g0270a0001c0001t0001g0299 | 3 | 320 | 0.0094 | 6 | c.*67 others(17): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1888 | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203434058 | A | ATCTATC | downstream_gene_variant | MODIFIER | HG00280.hp1 HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0244 | 3 | 320 | 0.0094 | 6 | c.*67 others(17): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1890 | chr2 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100830106 | C | CATATAT | intron_variant | MODIFIER | HG02027.hp1 HG02132.hp1 NA18977.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0008a0002c0002t0006a0002c0006t0004others(1): Show | a0001c0001t0008g0194a0002c0002t0006g0183a0002c0006t0004g0235others(1): Show | 4 | 238 | 0.0168 | 6 | c.245 others(23): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 32/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100830110 | C | CATATAT | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG01123.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0008others(1): Show | a0001c0001t0021a0001c0004t0002a0002c0008t0001others(1): Show | a0001c0001t0021g0075a0001c0001t0021g0106a0001c0004t0002g0024others(2): Show | 5 | 238 | 0.0210 | 6 | c.245 others(23): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 32/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100867640 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00733.hp2 others(21): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0001c0005others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0093a0001c0001t0003g0085a0001c0001t0005g0096others(21): Show | 24 | 238 | 0.1008 | 6 | c.911 others(21): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 9/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100922523 | C | CGATGGT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(47): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0005others(19): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0014others(27): Show | a0001c0001t0006g0203a0001c0001t0006g0216a0001c0001t0008g0196others(47): Show | 50 | 238 | 0.2101 | 6 | c.259 others(23): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 2/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100933631 | C | CTATATA | intron_variant | MODIFIER | NA19009.hp1 NA19086.hp2 |
a0001a0002 | a0001c0009a0002c0006 | a0001c0009t0001a0002c0006t0001 | a0001c0009t0001g0086a0002c0006t0001g0163 | 2 | 238 | 0.0084 | 6 | c.80- others(21): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 1/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100933632 | A | AATATAT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(163): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0005others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(76): Show | a0001c0001t0001g0137a0001c0001t0002g0066a0001c0001t0002g0072others(163): Show | 166 | 238 | 0.6975 | 6 | c.80- others(21): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 1/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100940829 | T | TATATAG | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG02486.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0005a0002c0002others(3): Show | a0001c0004t0003a0001c0004t0005a0001c0004t0009others(6): Show | a0001c0004t0003g0023a0001c0004t0005g0017a0001c0004t0009g0218others(6): Show | 9 | 238 | 0.0378 | 6 | c.80- others(23): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 1/67 | chr3 | TogoVar | ||||||
ABI3_chr17_49205707_49228225 | 49220846 | A | AAATAAT | intron_variant | MODIFIER | HG02976.hp2 HG03486.hp2 NA18945.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0055a0001c0001t0001g0114others(3): Show | 7 | 448 | 0.0156 | 6 | c.802 others(21): Show |
ABI3 | ENSG00000108798.9 | transcript | ENST00000225941.6 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABL1_chr9_130830254_130892675 | 130835751 | T | TTTTCTC | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(183): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(33): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(174): Show | 186 | 278 | 0.6691 | 6 | c.79+ others(19): Show |
ABL1 | ENSG00000097007.20 | transcript | ENST00000318560.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ABL1_chr9_130830254_130892675 | 130876411 | C | CTTTTCT | intron_variant | MODIFIER | HG01123.hp2 HG01243.hp2 HG01361.hp2 others(35): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0007a0001c0001t0009a0001c0001t0011others(19): Show | a0001c0001t0007g0018a0001c0001t0007g0258a0001c0001t0007g0259others(33): Show | 38 | 278 | 0.1367 | 6 | c.127 others(25): Show |
ABL1 | ENSG00000097007.20 | transcript | ENST00000318560.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ABL1_chr9_130830254_130892675 | 130876411 | C | CTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp2 HG01071.hp1 others(31): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0224a0001c0001t0002g0013a0001c0001t0002g0015others(29): Show | 34 | 278 | 0.1223 | 6 | c.127 others(25): Show |
ABL1 | ENSG00000097007.20 | transcript | ENST00000318560.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ABL2_chr1_179094330_179234677 | 179124464 | C | CTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00733.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(29): Show | a0001c0001t0001g0149a0001c0001t0001g0190a0001c0001t0001g0201others(46): Show | 49 | 350 | 0.1400 | 6 | c.687 others(23): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 4/11 | chr1 | TogoVar |