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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALG6_chr1_63362627_63443553 | 63385184 | CTTTTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00738.hp1 others(54): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0178a0001c0001t0002g0179a0001c0001t0003g0012others(54): Show | 57 | 388 | 0.1469 | -6 | c.83- others(23): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63400331 | ATATACG | A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(93): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0375a0001c0001t0002g0031a0001c0001t0002g0331others(93): Show | 96 | 388 | 0.2474 | -6 | c.168 others(23): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63422154 | AATATAT | A | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011 | a0001c0001t0010g0333a0001c0001t0010g0334a0001c0001t0011g0189others(2): Show | 5 | 388 | 0.0129 | -6 | c.105 others(25): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63422354 | TATATAA | T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00733.hp1 others(92): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0005a0004c0008others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0003g0005a0001c0001t0003g0012a0001c0001t0003g0099others(92): Show | 95 | 388 | 0.2449 | -6 | c.105 others(25): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63422402 | TATATAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(62): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0050others(61): Show | 65 | 388 | 0.1675 | -6 | c.105 others(25): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG8_chr11_78095946_78144626 | 78107198 | AATATAT | A | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG01884.hp1 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0022a0001c0001t0001g0033a0001c0001t0001g0039others(18): Show | 23 | 402 | 0.0572 | -6 | c.103 others(23): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 9/12 | chr11 | TogoVar | ||||||
ALG8_chr11_78095946_78144626 | 78113712 | TAAACAA | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00597.hp2 others(108): Show |
a0001a0006a0008 | a0001c0001a0001c0003a0006c0007others(1): Show | a0001c0001t0001a0001c0003t0001a0006c0007t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(93): Show | 111 | 402 | 0.2761 | -6 | c.777 others(21): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 7/12 | chr11 | TogoVar | ||||||
ALG8_chr11_78095946_78144626 | 78143317 | AACACAC | A | upstream_gene_variant | MODIFIER | HG02055.hp1 HG03225.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107a0001c0001t0001g0336a0001c0001t0001g0338 | 3 | 402 | 0.0075 | -6 | c.-37 others(17): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 3692 | chr11 | TogoVar | ||||||
ALG9_chr11_111777195_111876581 | 111812915 | CAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(100): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0004a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0004g0110a0002c0002t0001g0001a0002c0002t0001g0003others(96): Show | 103 | 314 | 0.3280 | -6 | c.160 others(25): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 13/14 | chr11 | TogoVar | ||||||
ALG9_chr11_111777195_111876581 | 111820920 | GCACACA | G | intron_variant | MODIFIER | HG00597.hp1 NA18968.hp2 NA18989.hp2 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0096a0004c0004t0001g0097a0004c0004t0001g0098others(1): Show | 4 | 314 | 0.0127 | -6 | c.160 others(27): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 13/14 | chr11 | TogoVar | ||||||
ALKAL1_chr8_52529037_52570430 | 52531150 | CATATAT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00558.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(53): Show | 86 | 396 | 0.2172 | -6 | c.*34 others(17): Show |
ALKAL1 | ENSG00000196711.9 | transcript | ENST00000358543.9 | protein_coding | 2886 | chr8 | TogoVar | ||||||
ALKAL1_chr8_52529037_52570430 | 52531210 | TATACAC | T | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02717.hp1 HG02723.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0094a0001c0001t0001g0152a0001c0003t0001g0159others(1): Show | 4 | 396 | 0.0101 | -6 | c.*33 others(17): Show |
ALKAL1 | ENSG00000196711.9 | transcript | ENST00000358543.9 | protein_coding | 2826 | chr8 | TogoVar | ||||||
ALKAL1_chr8_52529037_52570430 | 52531212 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01070.hp2 HG01081.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0019others(9): Show | 14 | 396 | 0.0354 | -6 | c.*33 others(17): Show |
ALKAL1 | ENSG00000196711.9 | transcript | ENST00000358543.9 | protein_coding | 2824 | chr8 | TogoVar | ||||||
ALKAL2_chr2_274558_293091 | 288895 | TCCGCCC | T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG02027.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0026others(5): Show | 11 | 416 | 0.0264 | -6 | c.-94 others(15): Show |
ALKAL2 | ENSG00000189292.17 | transcript | ENST00000403610.9 | protein_coding | 805 | chr2 | TogoVar | ||||||
ALKBH1_chr14_77667404_77713023 | 77683149 | CTTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(72): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0002g0048a0001c0001t0002g0049a0001c0001t0002g0050others(53): Show | 75 | 360 | 0.2083 | -6 | c.456 others(23): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
ALKBH4_chr7_102451238_102469863 | 102458572 | AAATAAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(128): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0019a0001c0001t0001g0100a0001c0001t0001g0110others(44): Show | 131 | 404 | 0.3243 | -6 | c.322 others(21): Show |
ALKBH4 | ENSG00000160993.4 | transcript | ENST00000292566.4 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
ALKBH4_chr7_102451238_102469863 | 102462955 | CTTTTTT | C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02615.hp1 others(6): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0004 | a0001c0001t0003a0003c0005t0003a0004c0004t0003 | a0001c0001t0003g0012a0001c0001t0003g0151a0001c0001t0003g0153others(2): Show | 9 | 404 | 0.0223 | -6 | c.123 others(23): Show |
ALKBH4 | ENSG00000160993.4 | transcript | ENST00000292566.4 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
ALKBH4_chr7_102451238_102469863 | 102465488 | GCTTTTT | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0015 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0010others(19): Show | 73 | 404 | 0.1807 | -6 | c.-65 others(15): Show |
ALKBH4 | ENSG00000160993.4 | transcript | ENST00000292566.4 | protein_coding | 626 | chr7 | TogoVar | ||||||
ALKBH4_chr7_102451238_102469863 | 102467070 | GGTGTGT | G | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG01346.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0027a0001c0001t0001g0050others(6): Show | 15 | 404 | 0.0371 | -6 | c.-22 others(17): Show |
ALKBH4 | ENSG00000160993.4 | transcript | ENST00000292566.4 | protein_coding | 2208 | chr7 | TogoVar | ||||||
ALKBH4_chr7_102451238_102469863 | 102467167 | GTGGGGT | G | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0013a0001c0001t0001g0043a0001c0001t0001g0045others(3): Show | 9 | 404 | 0.0223 | -6 | c.-23 others(17): Show |
ALKBH4 | ENSG00000160993.4 | transcript | ENST00000292566.4 | protein_coding | 2305 | chr7 | TogoVar | ||||||
ALKBH4_chr7_102451238_102469863 | 102467171 | GGTGTGT | G | upstream_gene_variant | MODIFIER | NA18971.hp2 NA18990.hp1 NA19087.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0019a0001c0001t0001g0117a0001c0001t0001g0137others(1): Show | 4 | 404 | 0.0099 | -6 | c.-23 others(17): Show |
ALKBH4 | ENSG00000160993.4 | transcript | ENST00000292566.4 | protein_coding | 2309 | chr7 | TogoVar | ||||||
ALKBH5_chr17_18178828_18214954 | 18203071 | TAAAAAA | T | intron_variant | MODIFIER | HG02809.hp1 HG02818.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136a0001c0001t0002g0225a0001c0001t0002g0226others(3): Show | 6 | 418 | 0.0144 | -6 | c.852 others(23): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALKBH8_chr11_107497727_107570735 | 107530600 | AACACAC | A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0003t0003a0001c0007t0001others(1): Show | a0001c0001t0001g0281a0001c0003t0003g0282a0001c0003t0003g0284others(2): Show | 5 | 400 | 0.0125 | -6 | c.878 others(23): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 8/11 | chr11 | TogoVar | ||||||
ALKBH8_chr11_107497727_107570735 | 107544815 | CCACACA | C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG00738.hp2 others(20): Show |
a0001a0012a0016 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(5): Show | a0001c0001t0001g0113a0001c0001t0001g0124a0001c0001t0001g0138others(19): Show | 23 | 400 | 0.0575 | -6 | c.771 others(23): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 7/11 | chr11 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29206776 | GGTGTGT | G | intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG01884.hp1 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0001c0009others(22): Show | a0001c0004t0001a0001c0004t0008a0001c0006t0001others(24): Show | a0001c0004t0001g0021a0001c0004t0001g0037a0001c0004t0008g0003others(32): Show | 35 | 80 | 0.4375 | -6 | c.393 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 26/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29240152 | CAGAGAG | C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02280.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0001c0016others(11): Show | a0001c0004t0001a0001c0006t0001a0001c0016t0007others(11): Show | a0001c0004t0001g0021a0001c0006t0001g0036a0001c0016t0007g0004others(12): Show | 15 | 80 | 0.1875 | -6 | c.220 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 12/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29354588 | TAGAGAG | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00738.hp2 others(40): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0001c0009others(31): Show | a0001c0004t0001a0001c0004t0008a0001c0006t0001others(33): Show | a0001c0004t0001g0021a0001c0004t0008g0003a0001c0006t0001g0026others(40): Show | 43 | 80 | 0.5375 | -6 | c.128 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 5/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29510441 | AATGATT | A | intron_variant | MODIFIER | HG00140.hp2 HG02145.hp1 |
a0002 | a0002c0001a0002c0014 | a0002c0001t0001a0002c0014t0001 | a0002c0001t0001g0061a0002c0014t0001g0009 | 2 | 80 | 0.0250 | -6 | c.115 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29523858 | GTTTTTT | G | intron_variant | MODIFIER | HG00140.hp2 HG02055.hp2 HG02451.hp1 others(1): Show |
a0001a0002 | a0001c0004a0001c0025a0002c0008others(1): Show | a0001c0004t0001a0001c0025t0011a0002c0008t0001others(1): Show | a0001c0004t0001g0037a0001c0025t0011g0074a0002c0008t0001g0049others(1): Show | 4 | 80 | 0.0500 | -6 | c.115 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29559768 | CGTGTGT | C | intron_variant | MODIFIER | HG02257.hp1 HG02895.hp1 HG03209.hp1 others(1): Show |
a0001a0002a0004 | a0001c0039a0002c0011a0002c0052others(1): Show | a0001c0039t0013a0002c0011t0001a0002c0052t0001others(1): Show | a0001c0039t0013g0079a0002c0011t0001g0042a0002c0052t0001g0017others(1): Show | 4 | 80 | 0.0500 | -6 | c.953 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29706975 | ATGTGTG | A | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG01109.hp2 others(5): Show |
a0001a0003a0004others(1): Show | a0001c0017a0001c0020a0001c0022others(5): Show | a0001c0017t0001a0001c0020t0005a0001c0022t0001others(5): Show | a0001c0017t0001g0012a0001c0020t0005g0005a0001c0022t0001g0007others(5): Show | 8 | 80 | 0.1000 | -6 | c.787 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29710499 | CGTGTGT | C | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG01433.hp2 others(7): Show |
a0001a0003a0005others(1): Show | a0001c0009a0001c0017a0001c0022others(7): Show | a0001c0009t0005a0001c0017t0001a0001c0022t0001others(7): Show | a0001c0009t0005g0054a0001c0017t0001g0012a0001c0022t0001g0007others(7): Show | 10 | 80 | 0.1250 | -6 | c.787 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29785954 | CACACAT | C | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp2 |
a0001 | a0001c0004a0001c0050 | a0001c0004t0008a0001c0050t0014 | a0001c0004t0008g0003a0001c0050t0014g0078 | 2 | 80 | 0.0250 | -6 | c.668 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29830712 | TTAAAAA | T | intron_variant | MODIFIER | HG01074.hp2 HG01433.hp2 HG02145.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0009a0001c0023a0001c0035others(6): Show | a0001c0009t0005a0001c0023t0010a0001c0035t0001others(6): Show | a0001c0009t0005g0018a0001c0023t0010g0076a0001c0035t0001g0068others(6): Show | 9 | 80 | 0.1125 | -6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29830955 | AAAGAAG | A | intron_variant | MODIFIER | HG02572.hp1 HG02970.hp1 NA19240.hp2 |
a0005a0008 | a0005c0013a0005c0046a0008c0057 | a0005c0013t0004a0005c0046t0004a0008c0057t0002 | a0005c0013t0004g0020a0005c0046t0004g0053a0008c0057t0002g0023 | 3 | 80 | 0.0375 | -6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29831174 | AGGAAGG | A | intron_variant | MODIFIER | HG00323.hp2 HG01884.hp1 HG02145.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0009a0001c0017a0001c0020others(6): Show | a0001c0009t0005a0001c0017t0001a0001c0020t0005others(6): Show | a0001c0009t0005g0054a0001c0017t0001g0012a0001c0020t0005g0005others(6): Show | 9 | 80 | 0.1125 | -6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29831223 | GGAAGAA | G | intron_variant | MODIFIER | HG01123.hp1 HG02895.hp2 HG02897.hp1 |
a0002a0003 | a0002c0018a0003c0010 | a0002c0018t0001a0003c0010t0006 | a0002c0018t0001g0008a0003c0010t0006g0001a0003c0010t0006g0002 | 3 | 80 | 0.0375 | -6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29889695 | CAGAGAG | C | intron_variant | MODIFIER | HG01106.hp2 HG02055.hp1 |
a0003a0005 | a0003c0003a0005c0021 | a0003c0003t0002a0005c0021t0004 | a0003c0003t0002g0065a0005c0021t0004g0006 | 2 | 80 | 0.0250 | -6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29894847 | CACACAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG02451.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0058a0002c0008others(3): Show | a0001c0006t0001a0001c0058t0001a0002c0008t0001others(3): Show | a0001c0006t0001g0026a0001c0058t0001g0024a0002c0008t0001g0049others(3): Show | 6 | 80 | 0.0750 | -6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29908280 | GCACACA | G | intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG02055.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0025a0001c0035others(8): Show | a0001c0004t0008a0001c0025t0011a0001c0035t0001others(8): Show | a0001c0004t0008g0003a0001c0025t0011g0074a0001c0035t0001g0068others(8): Show | 11 | 80 | 0.1375 | -6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29909480 | CAGAGAG | C | intron_variant | MODIFIER | HG01106.hp2 HG01433.hp1 HG01884.hp2 |
a0001a0002a0003 | a0001c0027a0002c0007a0003c0003 | a0001c0027t0001a0002c0007t0001a0003c0003t0002 | a0001c0027t0001g0013a0002c0007t0001g0066a0003c0003t0002g0065 | 3 | 80 | 0.0375 | -6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3668566 | CTTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02056.hp2 HG02109.hp1 others(9): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0002a0003c0003t0002a0004c0004t0002 | a0002c0002t0002g0014a0002c0002t0002g0182a0002c0002t0002g0220others(9): Show | 12 | 274 | 0.0438 | -6 | c.-62 others(23): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3698778 | ATACTTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(16): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0065a0002c0002t0001g0124a0002c0002t0002g0001others(12): Show | 19 | 274 | 0.0693 | -6 | c.850 others(23): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 10/11 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73385903 | TGGAGGA | T | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(131): Show |
a0002a0003a0004others(26): Show | a0002c0004a0002c0011a0002c0020others(41): Show | a0002c0004t0001a0002c0011t0001a0002c0020t0001others(41): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(131): Show | 134 | 248 | 0.5403 | -6 | c.69_ others(11): Show |
p.Glu others(11): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 102/12844 | 69/12507 | 23/4168 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
ALMS1_chr2_73380836_73614916 | 73395040 | GTGTGTA | G | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(7): Show |
a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0064a0004c0003t0002g0065a0004c0003t0002g0066others(7): Show | 10 | 248 | 0.0403 | -6 | c.324 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73515768 | TACACAC | T | intron_variant | MODIFIER | HG00609.hp2 HG01099.hp2 HG01169.hp2 others(30): Show |
a0001a0002a0006others(9): Show | a0001c0001a0002c0041a0006c0007others(10): Show | a0001c0001t0001a0002c0041t0001a0006c0007t0001others(11): Show | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(30): Show | 33 | 248 | 0.1331 | -6 | c.954 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73543251 | AACAAGC | A | intron_variant | MODIFIER | HG02622.hp1 HG02970.hp1 HG03195.hp1 others(2): Show |
a0002a0011 | a0002c0023a0011c0024a0011c0048 | a0002c0023t0001a0011c0024t0001a0011c0048t0001 | a0002c0023t0001g0195a0002c0023t0001g0196a0011c0024t0001g0194others(2): Show | 5 | 248 | 0.0202 | -6 | c.990 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73563735 | AAAAAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(15): Show |
a0002a0003a0004others(5): Show | a0002c0004a0002c0011a0002c0052others(7): Show | a0002c0004t0001a0002c0011t0001a0002c0052t0001others(7): Show | a0002c0004t0001g0051a0002c0004t0001g0052a0002c0011t0001g0004others(15): Show | 18 | 248 | 0.0726 | -6 | c.103 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73568995 | CTTTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01175.hp1 others(7): Show |
a0002a0004a0009others(2): Show | a0002c0004a0004c0003a0004c0043others(3): Show | a0002c0004t0001a0004c0003t0002a0004c0043t0002others(3): Show | a0002c0004t0001g0031a0002c0004t0001g0034a0002c0004t0001g0052others(7): Show | 10 | 248 | 0.0403 | -6 | c.103 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALOX12B_chr17_8067636_8092716 | 8087231 | CACACAG | C | intron_variant | MODIFIER | HG01891.hp1 HG02083.hp1 HG02109.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0223a0001c0001t0001g0224a0001c0001t0002g0009others(5): Show | 13 | 462 | 0.0281 | -6 | c.147 others(19): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 1/14 | chr17 | TogoVar |