view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BBS9_chr7_33124564_33611069 | 33204259 | CCGG | C | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp2 HG03209.hp1 others(1): Show |
a0006 | a0006c0011a0006c0012 | a0006c0011t0001a0006c0012t0007a0006c0012t0015 | a0006c0011t0001g0236 a0006c0011t0001g0238 a0006c0012t0007g0235 others(1): Show |
4 | 268 | 0.0149 | -3 | c.442 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | chr7 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33204260 | CGGT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(210): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0009a0001c0010others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 others(210): Show |
213 | 268 | 0.7948 | -3 | c.442 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33275098 | ATAT | A | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02630.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0022 | a0001c0001t0001a0004c0004t0001a0004c0022t0001 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0004c0004t0001g0182 others(5): Show |
8 | 268 | 0.0299 | -3 | c.101 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33280575 | AACT | A | intron_variant | MODIFIER | HG02258.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 a0001c0001t0001g0266 |
2 | 268 | 0.0075 | -3 | c.101 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33280908 | TTTG | T | intron_variant | MODIFIER | HG00280.hp2 HG02615.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0263 others(2): Show |
5 | 268 | 0.0187 | -3 | c.101 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33281366 | CTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG01884.hp1 HG01975.hp1 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0020a0001c0026others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 others(29): Show |
32 | 268 | 0.1194 | -3 | c.101 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33312210 | ATGT | A | intron_variant | MODIFIER | HG00423.hp2 HG01975.hp1 HG01981.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0020a0001c0026others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 others(27): Show |
30 | 268 | 0.1119 | -3 | c.101 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33316412 | TGAG | T | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00738.hp1 others(35): Show |
a0001a0004a0010 | a0001c0001a0001c0010a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0106 others(35): Show |
38 | 268 | 0.1418 | -3 | c.101 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33322356 | CTTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG02723.hp2 others(7): Show |
a0002a0006a0009others(1): Show | a0002c0002a0006c0011a0009c0008others(1): Show | a0002c0002t0001a0002c0002t0002a0006c0011t0001others(3): Show | a0002c0002t0001g0130 a0002c0002t0001g0137 a0002c0002t0001g0138 others(7): Show |
10 | 268 | 0.0373 | -3 | c.101 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33332676 | CAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02258.hp2 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0001a0005c0005t0007 | a0005c0005t0001g0140 a0005c0005t0001g0180 a0005c0005t0007g0128 others(1): Show |
4 | 268 | 0.0149 | -3 | c.101 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33332678 | AAAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(219): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0009a0001c0010others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 others(219): Show |
222 | 268 | 0.8284 | -3 | c.101 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33334643 | TAAG | T | intron_variant | MODIFIER | HG02258.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 a0001c0001t0001g0266 |
2 | 268 | 0.0075 | -3 | c.101 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33343857 | AGAT | A | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0154 others(7): Show |
10 | 268 | 0.0373 | -3 | c.127 others(20): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 11/22 | chr7 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33382459 | CAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp1 HG01106.hp2 others(16): Show |
a0001a0005 | a0001c0001a0001c0010a0001c0023others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0055 a0001c0001t0002g0134 a0001c0001t0003g0038 others(16): Show |
19 | 268 | 0.0709 | -3 | c.179 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33467564 | CCAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00642.hp1 others(30): Show |
a0001a0006a0010 | a0001c0001a0001c0013a0001c0021others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0136 a0001c0001t0001g0153 a0001c0001t0001g0156 others(30): Show |
33 | 268 | 0.1231 | -3 | c.211 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33490363 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp2 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0055 a0001c0001t0001g0080 a0001c0001t0001g0110 others(25): Show |
28 | 268 | 0.1045 | -3 | c.211 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33541212 | CCTT | C | intron_variant | MODIFIER | HG01255.hp2 HG02257.hp2 HG02451.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0118 others(6): Show |
9 | 268 | 0.0336 | -3 | c.252 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33561702 | AAAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00733.hp1 others(32): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0009a0001c0021others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0001g0109 others(32): Show |
35 | 268 | 0.1306 | -3 | c.252 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33565839 | ACTG | A | intron_variant | MODIFIER | HG01109.hp1 HG02965.hp2 HG03471.hp1 others(2): Show |
a0001a0006 | a0001c0001a0001c0013a0006c0012 | a0001c0001t0001a0001c0001t0010a0001c0013t0010others(1): Show | a0001c0001t0001g0231 a0001c0001t0010g0117 a0001c0001t0010g0170 others(2): Show |
5 | 268 | 0.0187 | -3 | c.252 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107519158 | AAGG | A | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0210 a0001c0001t0016g0211 |
2 | 222 | 0.0090 | -3 | c.-41 others(14): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3803 | chr3 | TogoVar | |||||||
BBX_chr3_107517962_107816339 | 107523218 | AGCG | A | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01256.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0042others(7): Show | a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0013 others(13): Show |
16 | 222 | 0.0721 | -3 | c.-15 others(20): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107552371 | AAAG | A | intron_variant | MODIFIER | HG01168.hp1 HG01433.hp2 HG03017.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0165 a0001c0001t0002g0138 a0001c0001t0002g0139 others(3): Show |
6 | 222 | 0.0270 | -3 | c.-84 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | chr3 | TogoVar | |||||||
BBX_chr3_107517962_107816339 | 107555070 | AAAC | A | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01256.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0042others(4): Show | a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0013 others(10): Show |
13 | 222 | 0.0586 | -3 | c.-84 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107584086 | TATC | T | intron_variant | MODIFIER | HG01975.hp1 HG02886.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0021 | a0001c0001t0001g0217 a0001c0001t0004g0218 a0001c0001t0021g0101 others(1): Show |
4 | 222 | 0.0180 | -3 | c.-84 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107584672 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00733.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0055 a0001c0001t0001g0072 a0001c0001t0001g0112 others(31): Show |
34 | 222 | 0.1532 | -3 | c.-84 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107594937 | GTTA | G | intron_variant | MODIFIER | HG02055.hp2 HG03540.hp2 HG03579.hp1 |
a0003a0007 | a0003c0003a0007c0006 | a0003c0003t0032a0003c0003t0033a0007c0006t0048 | a0003c0003t0032g0016 a0003c0003t0033g0005 a0007c0006t0048g0004 |
3 | 222 | 0.0135 | -3 | c.-83 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107616005 | CTTT | C | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01071.hp2 others(34): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 others(34): Show |
37 | 222 | 0.1667 | -3 | c.-83 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107632077 | TTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(87): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 others(87): Show |
90 | 222 | 0.4054 | -3 | c.-83 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107660505 | TAAA | T | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG01346.hp2 others(28): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0004a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0018 a0001c0001t0001g0217 a0001c0001t0002g0031 others(28): Show |
31 | 222 | 0.1396 | -3 | c.-10 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107662643 | GTTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01081.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0104 a0001c0001t0001g0165 a0001c0001t0002g0138 others(14): Show |
17 | 222 | 0.0766 | -3 | c.-10 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107700406 | TTCA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00733.hp2 others(71): Show |
a0001a0004a0007 | a0001c0001a0001c0008a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0053 others(71): Show |
74 | 222 | 0.3333 | -3 | c.-9- others(20): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107700414 | CATT | C | intron_variant | MODIFIER | HG01975.hp1 HG02976.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0001t0021a0001c0007t0014 | a0001c0001t0004g0017 a0001c0001t0021g0101 a0001c0007t0014g0047 |
3 | 222 | 0.0135 | -3 | c.-9- others(18): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107708191 | ATCT | A | intron_variant | MODIFIER | HG03453.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 a0001c0001t0002g0139 |
2 | 222 | 0.0090 | -3 | c.-9- others(18): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107718287 | TATA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00733.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0065 a0001c0001t0003g0157 a0001c0001t0005g0019 others(12): Show |
15 | 222 | 0.0676 | -3 | c.405 others(20): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107737884 | GTTT | G | intron_variant | MODIFIER | HG00735.hp2 HG02809.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0052others(1): Show | a0001c0001t0002g0214 a0001c0001t0006g0046 a0001c0001t0006g0049 others(3): Show |
6 | 222 | 0.0270 | -3 | c.669 others(20): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107743918 | GTTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01081.hp1 others(61): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0072 a0001c0001t0001g0104 a0001c0001t0001g0140 others(61): Show |
64 | 222 | 0.2883 | -3 | c.670 others(18): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107769642 | ATCG | A | intron_variant | MODIFIER | HG01081.hp1 HG01346.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0035 | a0001c0001t0004g0106 a0001c0001t0004g0179 a0001c0001t0035g0107 |
3 | 222 | 0.0135 | -3 | c.907 others(20): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107772911 | TAGA | T | disruptive_inframe_deletion | MODERATE | HG00733.hp1 HG00738.hp1 HG01175.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005a0002c0002t0050others(1): Show | a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0008 others(6): Show |
9 | 222 | 0.0405 | -3 | c.119 others(12): Show |
p.Glu others(6): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 11/18 | 1498/9009 | 1197/2826 | 399/941 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
BCAM_chr19_44804103_44826421 | 44812964 | AAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(25): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0002c0008others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0001others(8): Show | a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0062 others(16): Show |
28 | 410 | 0.0683 | -3 | c.505 others(18): Show |
BCAM | ENSG00000187244.12 | transcript | ENST00000270233.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BCAM_chr19_44804103_44826421 | 44813073 | TGGA | T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(21): Show |
a0001a0002a0004others(2): Show | a0001c0004a0002c0008a0002c0010others(4): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0009others(6): Show | a0001c0004t0001g0065 a0001c0004t0002g0009 a0001c0004t0002g0010 others(12): Show |
24 | 410 | 0.0585 | -3 | c.505 others(18): Show |
BCAM | ENSG00000187244.12 | transcript | ENST00000270233.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BCAM_chr19_44804103_44826421 | 44823716 | CTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00621.hp2 others(69): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0032others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0032t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(29): Show |
72 | 410 | 0.1756 | -3 | c.*27 others(14): Show |
BCAM | ENSG00000187244.12 | transcript | ENST00000270233.12 | protein_coding | 2296 | chr19 | TogoVar | |||||||
BCAN_chr1_156637117_156664528 | 156640414 | CTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00609.hp2 others(50): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(4): Show | a0001c0001t0001g0102 a0001c0001t0001g0159 a0001c0001t0001g0315 others(35): Show |
53 | 420 | 0.1262 | -3 | c.-18 others(14): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1702 | chr1 | TogoVar | |||||||
BCAN_chr1_156637117_156664528 | 156664023 | AAAG | A | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02145.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0004 | a0001c0001t0001a0001c0007t0001a0003c0004t0001 | a0001c0001t0001g0059 a0001c0001t0001g0152 a0001c0001t0001g0159 others(10): Show |
14 | 420 | 0.0333 | -3 | c.*48 others(14): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 4496 | chr1 | TogoVar | |||||||
BCAP29_chr7_107575246_107625478 | 107578072 | TTAA | T | upstream_gene_variant | MODIFIER | NA18612.hp1 NA18953.hp2 NA18956.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(17): Show |
24 | 398 | 0.0603 | -3 | c.-22 others(14): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 2173 | chr7 | TogoVar | |||||||
BCAP29_chr7_107575246_107625478 | 107588311 | TGTG | T | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0327 a0001c0001t0007g0328 a0001c0001t0007g0329 others(4): Show |
7 | 398 | 0.0176 | -3 | c.193 others(20): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107599002 | TCTA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(255): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(231): Show |
258 | 398 | 0.6482 | -3 | c.481 others(20): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107604685 | GTTT | G | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01256.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0047 a0001c0001t0001g0098 others(4): Show |
10 | 398 | 0.0251 | -3 | c.589 others(20): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107624916 | CTTT | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00735.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(65): Show |
74 | 398 | 0.1859 | -3 | c.*65 others(14): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 4439 | chr7 | TogoVar | |||||||
BCAP31_chrX_153695492_153729387 | 153696065 | AATT | A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG01175.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0099 others(2): Show |
5 | 267 | 0.0187 | -3 | c.*48 others(14): Show |
BCAP31 | ENSG00000185825.17 | transcript | ENST00000345046.12 | protein_coding | 4426 | chrX | TogoVar | |||||||
BCAP31_chrX_153695492_153729387 | 153696270 | GGCT | G | downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 267 | 0.0038 | -3 | c.*46 others(14): Show |
BCAP31 | ENSG00000185825.17 | transcript | ENST00000345046.12 | protein_coding | 4221 | chrX | TogoVar |