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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B4GALT6_chr18_31617246_31689581 | 31649575 | CAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00735.hp2 others(63): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0013 a0001c0001t0002g0152 a0001c0001t0002g0164 others(55): Show |
66 | 306 | 0.2157 | -3 | c.347 others(20): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
B4GALT6_chr18_31617246_31689581 | 31670763 | TTTA | T | intron_variant | MODIFIER | NA18988.hp1 NA18993.hp1 NA19072.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 others(1): Show |
4 | 306 | 0.0131 | -3 | c.116 others(20): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 1/8 | chr18 | TogoVar | |||||||
B4GALT6_chr18_31617246_31689581 | 31687981 | TGGG | T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022 | a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 others(2): Show |
5 | 306 | 0.0163 | -3 | c.-35 others(14): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 3401 | chr18 | TogoVar | |||||||
B4GALT7_chr5_177595132_177615330 | 177608487 | GCCC | G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(86): Show |
a0001a0008 | a0001c0001a0001c0004a0008c0011 | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 others(26): Show |
89 | 458 | 0.1943 | -3 | c.640 others(16): Show |
B4GALT7 | ENSG00000027847.14 | transcript | ENST00000029410.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
B4GAT1_chr11_66340374_66352629 | 66345681 | TAAC | T | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 NA18960.hp1 NA18994.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 4 | 412 | 0.0097 | -3 | c.*36 others(12): Show |
B4GAT1 | ENSG00000174684.7 | transcript | ENST00000311181.5 | protein_coding | 2/2 | 365 | chr11 | TogoVar | ||||||
B9D1_chr17_19338175_19367723 | 19340033 | ACCC | A | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01884.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0008a0002c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0017 others(9): Show |
28 | 354 | 0.0791 | -3 | c.*32 others(14): Show |
B9D1 | ENSG00000108641.20 | transcript | ENST00000261499.11 | protein_coding | 3141 | chr17 | TogoVar | |||||||
B9D1_chr17_19338175_19367723 | 19340788 | CAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp1 others(130): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(51): Show |
133 | 354 | 0.3757 | -3 | c.*25 others(14): Show |
B9D1 | ENSG00000108641.20 | transcript | ENST00000261499.11 | protein_coding | 2386 | chr17 | TogoVar | |||||||
B9D2_chr19_41349417_41369149 | 41350307 | CTTT | C | downstream_gene_variant | MODIFIER | HG01516.hp1 HG03041.hp1 NA18946.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0026 others(2): Show |
6 | 360 | 0.0167 | -3 | c.*43 others(14): Show |
B9D2 | ENSG00000123810.9 | transcript | ENST00000243578.8 | protein_coding | 4109 | chr19 | TogoVar | |||||||
BAALC_chr8_103135725_103235305 | 103162756 | TTAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(248): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 others(217): Show |
251 | 332 | 0.7560 | -3 | c.160 others(22): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAALC_chr8_103135725_103235305 | 103169093 | GTTA | G | intron_variant | MODIFIER | HG01884.hp2 HG01993.hp1 HG02451.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0002g0074 others(13): Show |
16 | 332 | 0.0482 | -3 | c.160 others(22): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAALC_chr8_103135725_103235305 | 103171340 | AAGG | A | intron_variant | MODIFIER | HG00140.hp1 HG01123.hp2 HG01255.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 others(3): Show |
7 | 332 | 0.0211 | -3 | c.160 others(22): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAALC_chr8_103135725_103235305 | 103177167 | TTTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(53): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0230 others(42): Show |
56 | 332 | 0.1687 | -3 | c.161 others(22): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAALC_chr8_103135725_103235305 | 103221731 | ATCT | A | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01358.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0081 a0001c0001t0008g0156 a0001c0001t0008g0239 others(3): Show |
6 | 332 | 0.0181 | -3 | c.328 others(20): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAALC_chr8_103135725_103235305 | 103230198 | GCTA | G | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp2 others(84): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0006 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 others(69): Show |
87 | 332 | 0.2621 | -3 | c.*21 others(14): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 3/3 | 2102 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BAAT_chr9_101355417_101390006 | 101367113 | AAAG | A | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02630.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0008a0003c0003t0003a0003c0003t0004others(2): Show | a0001c0001t0008g0025 a0001c0001t0008g0172 a0003c0003t0003g0018 others(4): Show |
12 | 418 | 0.0287 | -3 | c.669 others(20): Show |
BAAT | ENSG00000136881.12 | transcript | ENST00000259407.7 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
BAAT_chr9_101355417_101390006 | 101370320 | CTTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02896.hp1 others(8): Show |
a0003a0004 | a0003c0003a0004c0005 | a0003c0003t0003a0003c0003t0004a0003c0003t0018others(2): Show | a0003c0003t0003g0149 a0003c0003t0003g0150 a0003c0003t0004g0147 others(7): Show |
11 | 418 | 0.0263 | -3 | c.466 others(18): Show |
BAAT | ENSG00000136881.12 | transcript | ENST00000259407.7 | protein_coding | 2/3 | chr9 | TogoVar | |||||||
BABAM1_chr19_17262443_17284337 | 17273561 | TTTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(73): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(26): Show |
76 | 424 | 0.1793 | -3 | c.345 others(18): Show |
BABAM1 | ENSG00000105393.16 | transcript | ENST00000598188.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BABAM1_chr19_17262443_17284337 | 17280981 | CAAA | C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01256.hp2 HG02055.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 others(10): Show |
16 | 424 | 0.0377 | -3 | c.*19 others(14): Show |
BABAM1 | ENSG00000105393.16 | transcript | ENST00000598188.6 | protein_coding | 1645 | chr19 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 27887728 | AATC | A | upstream_gene_variant | MODIFIER | HG00738.hp1 HG02922.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 others(1): Show |
4 | 158 | 0.0253 | -3 | c.-31 others(14): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3000 | chr2 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 27907518 | TGTG | T | intron_variant | MODIFIER | HG00639.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 a0001c0001t0002g0047 |
2 | 158 | 0.0127 | -3 | c.128 others(22): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 27938811 | CCTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0052 a0001c0001t0001g0053 others(13): Show |
16 | 158 | 0.1013 | -3 | c.205 others(20): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 27961722 | CTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG02735.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(3): Show |
6 | 158 | 0.0380 | -3 | c.206 others(22): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 27966214 | TTTC | T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(73): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0031 others(73): Show |
76 | 158 | 0.4810 | -3 | c.206 others(22): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28017352 | ATGT | A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(73): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0032 others(73): Show |
76 | 158 | 0.4810 | -3 | c.301 others(20): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28040294 | CTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp2 HG01099.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0045 a0001c0001t0001g0052 others(12): Show |
15 | 158 | 0.0949 | -3 | c.496 others(20): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28122778 | ATTG | A | intron_variant | MODIFIER | HG01496.hp1 HG02559.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0045 a0001c0001t0002g0140 a0001c0001t0002g0141 |
3 | 158 | 0.0190 | -3 | c.571 others(20): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28126147 | TTTA | T | intron_variant | MODIFIER | HG01346.hp1 HG02109.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0138 a0001c0001t0002g0006 a0001c0001t0002g0007 others(1): Show |
4 | 158 | 0.0253 | -3 | c.571 others(20): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28168106 | CAAG | C | intron_variant | MODIFIER | HG02735.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0025 |
2 | 158 | 0.0127 | -3 | c.680 others(22): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | chr2 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 28177977 | TGGA | T | intron_variant | MODIFIER | HG02897.hp1 HG03139.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0020 others(1): Show |
4 | 158 | 0.0253 | -3 | c.680 others(22): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28220051 | TTTC | T | intron_variant | MODIFIER | HG01346.hp1 HG01891.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0133 a0001c0001t0001g0134 others(4): Show |
7 | 158 | 0.0443 | -3 | c.681 others(22): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28231785 | CTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00733.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0017 a0001c0001t0001g0040 a0001c0001t0001g0052 others(12): Show |
15 | 158 | 0.0949 | -3 | c.681 others(20): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28254444 | ATTG | A | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 |
3 | 158 | 0.0190 | -3 | c.934 others(20): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28263145 | AAAG | A | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01081.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0044 a0001c0001t0001g0045 others(13): Show |
16 | 158 | 0.1013 | -3 | c.934 others(22): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28263185 | GATT | G | intron_variant | MODIFIER | HG02897.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0043 a0001c0001t0002g0020 |
2 | 158 | 0.0127 | -3 | c.934 others(22): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28315130 | GAGA | G | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00735.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0040 others(13): Show |
16 | 158 | 0.1013 | -3 | c.108 others(24): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28318268 | AAAC | A | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01167.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025 a0001c0001t0002g0021 a0001c0001t0002g0029 others(9): Show |
12 | 158 | 0.0760 | -3 | c.108 others(24): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28319959 | TCCA | T | intron_variant | MODIFIER | HG00733.hp2 HG01167.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0121 others(3): Show |
6 | 158 | 0.0380 | -3 | c.108 others(24): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28341770 | TTTG | T | downstream_gene_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG02145.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0004 a0001c0001t0002g0036 a0001c0001t0002g0037 others(9): Show |
12 | 158 | 0.0760 | -3 | c.*32 others(14): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 2870 | chr2 | TogoVar | |||||||
BACE1_chr11_117280698_117321256 | 117292181 | CTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG01069.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0125 others(18): Show |
23 | 400 | 0.0575 | -3 | c.841 others(18): Show |
BACE1 | ENSG00000186318.18 | transcript | ENST00000313005.11 | protein_coding | 5/8 | chr11 | TogoVar | |||||||
BACE2_chr21_41163160_41287530 | 41184691 | CATT | C | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG00741.hp2 others(32): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0002g0148 a0001c0001t0003g0178 a0001c0001t0003g0230 others(32): Show |
35 | 272 | 0.1287 | -3 | c.312 others(22): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
BACE2_chr21_41163160_41287530 | 41206877 | TTAA | T | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01071.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0002g0087 a0001c0001t0004g0023 a0001c0001t0004g0072 others(34): Show |
37 | 272 | 0.1360 | -3 | c.313 others(22): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | TogoVar | |||||||
BACE2_chr21_41163160_41287530 | 41217631 | CGTT | C | intron_variant | MODIFIER | HG00741.hp2 HG02109.hp1 HG02257.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(5): Show | a0001c0001t0001g0165 a0001c0001t0007g0002 a0001c0001t0007g0201 others(7): Show |
10 | 272 | 0.0368 | -3 | c.313 others(20): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 89922684 | TTTG | T | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01109.hp1 HG01109.hp2 others(16): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(16): Show | a0001c0001t0001g0141 a0001c0001t0004g0036 a0001c0001t0011g0091 others(16): Show |
19 | 194 | 0.0979 | -3 | c.*97 others(14): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 3843 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 89930228 | CTTT | C | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01192.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0024a0001c0001t0049a0001c0001t0058others(8): Show | a0001c0001t0024g0065 a0001c0001t0024g0128 a0001c0001t0049g0031 others(9): Show |
12 | 194 | 0.0619 | -3 | c.*21 others(14): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 9/9 | 2177 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 89940834 | TTAA | T | intron_variant | MODIFIER | HG02965.hp2 HG02970.hp1 |
a0001 | a0001c0002 | a0001c0002t0061a0001c0002t0069 | a0001c0002t0061g0026 a0001c0002t0069g0087 |
2 | 194 | 0.0103 | -3 | c.183 others(22): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 89954051 | TGAA | T | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0038a0001c0001t0042a0001c0001t0058others(3): Show | a0001c0001t0038g0148 a0001c0001t0042g0094 a0001c0001t0058g0080 others(3): Show |
6 | 194 | 0.0309 | -3 | c.244 others(20): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 89955982 | TAGA | T | intron_variant | MODIFIER | HG00738.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0084 | a0001c0001t0058g0080 a0001c0001t0084g0021 |
2 | 194 | 0.0103 | -3 | c.244 others(20): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90014465 | TATA | T | intron_variant | MODIFIER | HG03669.hp1 HG03927.hp1 |
a0001 | a0001c0002 | a0001c0002t0053a0001c0002t0129 | a0001c0002t0053g0040 a0001c0002t0129g0191 |
2 | 194 | 0.0103 | -3 | c.-12 others(20): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90034523 | GAAT | G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00621.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0040a0001c0001t0102a0001c0002t0039others(3): Show | a0001c0001t0040g0111 a0001c0001t0102g0011 a0001c0002t0039g0112 others(3): Show |
6 | 194 | 0.0309 | -3 | c.-12 others(22): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90065270 | CTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG00741.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(13): Show | a0001c0001t0001g0100 a0001c0001t0003g0047 a0001c0001t0008g0097 others(13): Show |
16 | 194 | 0.0825 | -3 | c.-13 others(22): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar |