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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA5_chr17_69239311_69332133 | 69303795 | T | TACAC | intron_variant | MODIFIER | HG00609.hp1 HG03195.hp2 NA19009.hp2 |
a0001a0003a0006 | a0001c0002a0003c0003a0006c0009 | a0001c0002t0001a0003c0003t0003a0006c0009t0008 | a0001c0002t0001g0055a0003c0003t0003g0008a0006c0009t0008g0164 | 3 | 350 | 0.0086 | 4 | c.930 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69303829 | T | TACAC | intron_variant | MODIFIER | HG00609.hp1 HG02257.hp2 HG03195.hp2 |
a0003a0006 | a0003c0003a0006c0009 | a0003c0003t0003a0006c0009t0008 | a0003c0003t0003g0008a0006c0009t0008g0163a0006c0009t0008g0164 | 3 | 350 | 0.0086 | 4 | c.930 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69303845 | C | CATAT | intron_variant | MODIFIER | HG02027.hp1 HG02698.hp1 HG02698.hp2 others(14): Show |
a0001a0010 | a0001c0002a0001c0017a0010c0015 | a0001c0002t0001a0001c0002t0013a0001c0017t0001others(1): Show | a0001c0002t0001g0064a0001c0002t0001g0065a0001c0002t0001g0073others(14): Show | 17 | 350 | 0.0486 | 4 | c.930 others(19): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69322363 | C | CAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01070.hp1 others(18): Show |
a0001a0003 | a0001c0002a0001c0004a0001c0017others(1): Show | a0001c0002t0001a0001c0002t0020a0001c0004t0003others(2): Show | a0001c0002t0001g0122a0001c0002t0001g0149a0001c0002t0001g0150others(18): Show | 21 | 350 | 0.0600 | 4 | c.-16 others(21): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69142830 | A | ATGTG | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG03225.hp1 others(1): Show |
a0003a0006a0013 | a0003c0009a0006c0010a0013c0016 | a0003c0009t0001a0006c0010t0001a0013c0016t0001 | a0003c0009t0001g0261a0006c0010t0001g0258a0006c0010t0001g0260others(1): Show | 4 | 326 | 0.0123 | 4 | c.-11 others(15): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 936 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69142832 | G | GTGTA | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02486.hp2 HG02559.hp2 others(3): Show |
a0003a0018 | a0003c0003a0018c0021 | a0003c0003t0001a0018c0021t0001 | a0003c0003t0001g0029a0003c0003t0001g0030a0003c0003t0001g0280others(1): Show | 6 | 326 | 0.0184 | 4 | c.-11 others(15): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 938 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69142854 | G | GTATA | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01074.hp1 HG01167.hp2 others(33): Show |
a0001a0004a0005others(2): Show | a0001c0001a0004c0004a0005c0005others(2): Show | a0001c0001t0001a0004c0004t0002a0005c0005t0002others(2): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0097others(29): Show | 36 | 326 | 0.1104 | 4 | c.-11 others(15): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 960 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69142854 | G | GTGTA | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01361.hp1 others(12): Show |
a0001a0003a0016others(2): Show | a0001c0001a0003c0003a0016c0020others(2): Show | a0001c0001t0001a0003c0003t0001a0016c0020t0001others(2): Show | a0001c0001t0001g0118a0001c0001t0001g0119a0003c0003t0001g0010others(10): Show | 15 | 326 | 0.0460 | 4 | c.-11 others(15): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 960 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69143833 | G | GTAGA | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp2 others(103): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(12): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(96): Show | 106 | 326 | 0.3252 | 4 | c.-21 others(15): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 1939 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69144765 | T | TTTTC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(216): Show |
a0001a0002a0003others(17): Show | a0001c0001a0002c0002a0003c0003others(21): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(182): Show | 219 | 326 | 0.6718 | 4 | c.-30 others(15): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 2871 | chr17 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1059248 | A | ATTAT | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 NA18970.hp1 others(3): Show |
a0002a0004a0007others(2): Show | a0002c0009a0002c0011a0004c0004others(3): Show | a0002c0009t0001a0002c0011t0001a0004c0004t0001others(3): Show | a0002c0009t0001g0008a0002c0011t0001g0012a0004c0004t0001g0021others(3): Show | 6 | 30 | 0.2000 | 4 | c.546 others(21): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCA8_chr17_68862289_68960392 | 68887881 | C | CATAT | intron_variant | MODIFIER | HG02135.hp1 HG02818.hp2 HG03041.hp2 others(11): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0023a0001c0001t0001g0213others(11): Show | 14 | 274 | 0.0511 | 4 | c.314 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68887911 | T | TATCC | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01167.hp2 others(13): Show |
a0001a0030 | a0001c0001a0001c0003a0001c0017others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0017t0001others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0020a0001c0001t0001g0021others(13): Show | 16 | 274 | 0.0584 | 4 | c.314 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68887911 | T | TGTCC | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02922.hp1 others(3): Show |
a0001a0002a0007 | a0001c0005a0002c0006a0002c0022others(1): Show | a0001c0005t0001a0002c0006t0001a0002c0022t0001others(1): Show | a0001c0005t0001g0146a0001c0005t0001g0149a0002c0006t0001g0165others(3): Show | 6 | 274 | 0.0219 | 4 | c.314 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 24/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68893721 | C | CTTTT | intron_variant | MODIFIER | HG02683.hp1 HG02738.hp2 HG02809.hp1 others(4): Show |
a0001a0003a0013others(1): Show | a0001c0001a0003c0007a0013c0056others(1): Show | a0001c0001t0001a0003c0007t0001a0013c0056t0001others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0162a0001c0001t0001g0168others(4): Show | 7 | 274 | 0.0256 | 4 | c.303 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 23/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68896792 | G | GAAAC | intron_variant | MODIFIER | NA18961.hp1 NA18980.hp1 NA18991.hp1 others(1): Show |
a0001a0002a0026 | a0001c0001a0001c0003a0002c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0006t0001others(1): Show | a0001c0001t0001g0157a0001c0003t0001g0066a0002c0006t0001g0161others(1): Show | 4 | 274 | 0.0146 | 4 | c.276 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 21/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68911734 | T | TACAC | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00733.hp1 others(65): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0011others(65): Show | 68 | 274 | 0.2482 | 4 | c.213 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 17/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68922194 | C | CTTTT | intron_variant | MODIFIER | HG02040.hp2 HG02965.hp1 HG03139.hp1 others(7): Show |
a0001a0002a0007 | a0001c0001a0001c0050a0002c0006others(1): Show | a0001c0001t0001a0001c0050t0001a0002c0006t0001others(1): Show | a0001c0001t0001g0208a0001c0001t0001g0209a0001c0001t0001g0229others(7): Show | 10 | 274 | 0.0365 | 4 | c.150 others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68935262 | T | TTGTG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(91): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(14): Show | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0001g0157others(91): Show | 94 | 274 | 0.3431 | 4 | c.466 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68935540 | C | CTATA | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01106.hp2 others(21): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0119a0001c0001t0001g0157a0001c0001t0001g0170others(21): Show | 24 | 274 | 0.0876 | 4 | c.466 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68944316 | T | TTATA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG01433.hp1 others(15): Show |
a0001a0003a0028 | a0001c0001a0001c0002a0001c0048others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0090a0001c0001t0001g0164a0001c0001t0001g0171others(15): Show | 18 | 274 | 0.0657 | 4 | c.-5- others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68944359 | T | TACAC | intron_variant | MODIFIER | HG01099.hp1 HG01346.hp2 NA18951.hp1 |
a0001a0006 | a0001c0001a0006c0014 | a0001c0001t0001a0001c0001t0002a0006c0014t0001 | a0001c0001t0001g0013a0001c0001t0002g0039a0006c0014t0001g0054 | 3 | 274 | 0.0110 | 4 | c.-5- others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68946050 | A | AAATT | intron_variant | MODIFIER | HG00597.hp1 HG01346.hp1 HG02145.hp1 others(18): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0002a0004c0008others(9): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(10): Show | a0001c0001t0001g0011a0001c0001t0007g0265a0001c0002t0001g0004others(18): Show | 21 | 274 | 0.0766 | 4 | c.-6+ others(19): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68956352 | T | TACAC | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02145.hp1 HG02486.hp1 others(6): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0002a0004c0026others(2): Show | a0001c0001t0001a0001c0002t0001a0004c0026t0001others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0041a0001c0001t0001g0197others(6): Show | 9 | 274 | 0.0329 | 4 | c.-13 others(15): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 961 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68958506 | A | ATAAT | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00741.hp2 HG02109.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0006 | a0001c0001t0001a0001c0001t0007a0001c0004t0001others(1): Show | a0001c0001t0001g0175a0001c0001t0001g0227a0001c0001t0001g0230others(6): Show | 9 | 274 | 0.0329 | 4 | c.-34 others(15): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3115 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68958534 | A | ATAAT | upstream_gene_variant | MODIFIER | NA18942.hp1 NA18999.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0050 | a0001c0001t0001a0001c0050t0001 | a0001c0001t0001g0227a0001c0001t0001g0238a0001c0050t0001g0194 | 3 | 274 | 0.0110 | 4 | c.-34 others(15): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3143 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68958883 | A | ATTAT | upstream_gene_variant | MODIFIER | HG01496.hp1 NA18953.hp1 NA18994.hp2 others(2): Show |
a0001a0006 | a0001c0003a0006c0038 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0003t0001g0101a0001c0003t0002g0100a0001c0003t0003g0097others(2): Show | 5 | 274 | 0.0183 | 4 | c.-38 others(15): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3492 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 68989242 | C | CCTCT | intron_variant | MODIFIER | HG00544.hp1 HG02074.hp2 HG02165.hp2 others(3): Show |
a0002a0013 | a0002c0002a0002c0004a0013c0016 | a0002c0002t0002a0002c0004t0002a0013c0016t0002 | a0002c0002t0002g0070a0002c0002t0002g0103a0002c0002t0002g0160others(3): Show | 6 | 312 | 0.0192 | 4 | c.395 others(21): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 30/38 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 68989256 | T | TCACA | intron_variant | MODIFIER | HG04204.hp2 NA19075.hp2 NA20129.hp1 |
a0001a0017 | a0001c0001a0001c0008a0017c0025 | a0001c0001t0001a0001c0008t0001a0017c0025t0002 | a0001c0001t0001g0186a0001c0008t0001g0192a0017c0025t0002g0058 | 3 | 312 | 0.0096 | 4 | c.395 others(21): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 30/38 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 68989256 | T | TCTCA | intron_variant | MODIFIER | HG03098.hp1 HG03225.hp1 NA21309.hp1 |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0020 | a0001c0001t0003a0003c0003t0003a0008c0020t0003 | a0001c0001t0003g0165a0003c0003t0003g0040a0008c0020t0003g0054 | 3 | 312 | 0.0096 | 4 | c.395 others(21): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 30/38 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 69018065 | G | GTCTA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(6): Show |
a0001a0007a0022 | a0001c0001a0007c0009a0022c0018 | a0001c0001t0006a0007c0009t0005a0022c0018t0014 | a0001c0001t0006g0051a0001c0001t0006g0052a0001c0001t0006g0053others(5): Show | 9 | 312 | 0.0289 | 4 | c.276 others(21): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 20/38 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 69021678 | G | GTCCT | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(32): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0006a0002c0002t0002a0003c0003t0003others(7): Show | a0001c0001t0006g0051a0001c0001t0006g0052a0001c0001t0006g0053others(30): Show | 35 | 312 | 0.1122 | 4 | c.240 others(19): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 18/38 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 69022518 | G | GTGTA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(3): Show |
a0007a0022 | a0007c0009a0022c0018 | a0007c0009t0005a0022c0018t0014 | a0007c0009t0005g0010a0007c0009t0005g0295a0007c0009t0005g0296others(2): Show | 6 | 312 | 0.0192 | 4 | c.228 others(21): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 17/38 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 69033303 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0007a0001c0008others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(24): Show | a0001c0001t0001g0007a0001c0001t0001g0162a0001c0001t0001g0163others(226): Show | 240 | 312 | 0.7692 | 4 | c.127 others(21): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 69036871 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(68): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0007a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0007t0001others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0162a0001c0001t0001g0166others(62): Show | 71 | 312 | 0.2276 | 4 | c.801 others(21): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 69041729 | T | TTATC | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG02602.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0003 | a0001c0001t0001g0012a0001c0001t0001g0182a0001c0001t0001g0207others(7): Show | 10 | 312 | 0.0321 | 4 | c.800 others(21): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 69046875 | C | CTATA | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02698.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0008a0003c0003t0001a0003c0003t0003 | a0001c0001t0008g0250a0001c0001t0008g0251a0003c0003t0001g0016others(2): Show | 5 | 312 | 0.0160 | 4 | c.305 others(21): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3/38 | chr17 | TogoVar | ||||||
ABCB10_chr1_229511582_229563707 | 229519819 | G | GTAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(62): Show |
a0001a0003a0006 | a0001c0002a0003c0013a0006c0007 | a0001c0002t0002a0001c0002t0004a0001c0002t0008others(2): Show | a0001c0002t0002g0001a0001c0002t0002g0003a0001c0002t0002g0004others(58): Show | 65 | 284 | 0.2289 | 4 | c.195 others(21): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 11/12 | chr1 | TogoVar | ||||||
ABCB10_chr1_229511582_229563707 | 229529295 | C | CAAAA | intron_variant | MODIFIER | HG01978.hp1 HG02040.hp2 HG02300.hp2 others(3): Show |
a0001a0003a0009 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0121a0001c0001t0001g0131a0001c0001t0001g0136others(3): Show | 6 | 284 | 0.0211 | 4 | c.164 others(21): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 8/12 | chr1 | TogoVar | ||||||
ABCB10_chr1_229511582_229563707 | 229537798 | T | TAAAC | intron_variant | MODIFIER | HG00438.hp2 HG01074.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0198a0001c0001t0001g0199a0001c0001t0001g0204others(4): Show | 7 | 284 | 0.0247 | 4 | c.133 others(23): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 6/12 | chr1 | TogoVar | ||||||
ABCB10_chr1_229511582_229563707 | 229550525 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00738.hp1 others(46): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0013others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0008others(2): Show | a0001c0001t0001g0116a0001c0002t0002g0001a0001c0002t0002g0003others(43): Show | 49 | 284 | 0.1725 | 4 | c.518 others(21): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168939085 | C | CTGTT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(115): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(28): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(50): Show | a0001c0001t0001g0120a0001c0002t0002g0069a0001c0002t0002g0128others(114): Show | 118 | 306 | 0.3856 | 4 | c.261 others(23): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 21/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168943763 | A | ACGTG | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(157): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(28): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(46): Show | a0001c0001t0001g0048a0001c0001t0001g0073a0001c0001t0001g0074others(155): Show | 160 | 306 | 0.5229 | 4 | c.261 others(21): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 21/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168943763 | A | ATGTG | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG02257.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0048others(6): Show | a0001c0001t0001a0001c0002t0007a0001c0048t0007others(6): Show | a0001c0001t0001g0120a0001c0002t0007g0131a0001c0002t0007g0249others(9): Show | 12 | 306 | 0.0392 | 4 | c.261 others(21): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 21/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168950136 | T | TACAC | intron_variant | MODIFIER | HG00733.hp2 HG01255.hp1 HG02258.hp1 |
a0001a0004a0009 | a0001c0038a0004c0009a0009c0060 | a0001c0038t0006a0004c0009t0004a0009c0060t0006 | a0001c0038t0006g0190a0004c0009t0004g0101a0009c0060t0006g0199 | 3 | 306 | 0.0098 | 4 | c.234 others(23): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 19/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168950140 | T | TACAC | intron_variant | MODIFIER | HG01346.hp1 HG01515.hp2 HG03491.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0012a0002c0004t0012 | a0001c0002t0012g0156a0002c0004t0012g0142a0002c0004t0012g0195 | 3 | 306 | 0.0098 | 4 | c.234 others(23): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 19/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168956198 | A | AACTC | intron_variant | MODIFIER | HG01074.hp1 HG01261.hp2 HG02055.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0016a0001c0039others(6): Show | a0001c0001t0001a0001c0016t0008a0001c0016t0033others(9): Show | a0001c0001t0001g0120a0001c0016t0008g0295a0001c0016t0033g0294others(9): Show | 12 | 306 | 0.0392 | 4 | c.234 others(23): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 19/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168968130 | A | ATTTT | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG02055.hp2 others(40): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(21): Show | a0001c0001t0001a0001c0002t0007a0001c0005t0001others(27): Show | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0242others(40): Show | 43 | 306 | 0.1405 | 4 | c.207 others(21): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 17/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168968131 | T | TTTTC | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(140): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0007others(20): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(37): Show | a0001c0001t0001g0048a0001c0001t0001g0077a0001c0001t0001g0078others(139): Show | 143 | 306 | 0.4673 | 4 | c.207 others(21): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 17/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975174 | T | TTAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(217): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0005others(54): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(90): Show | a0001c0001t0001g0048a0001c0001t0001g0073a0001c0001t0001g0074others(216): Show | 220 | 306 | 0.7190 | 4 | c.130 others(23): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar |