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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BICRAL_chr6_42777052_42873556 | 42814519 | ATTT | A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(69): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0124a0001c0001t0001g0139a0001c0001t0001g0140others(69): Show | 72 | 270 | 0.2667 | -3 | c.-6+ others(18): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRAL_chr6_42777052_42873556 | 42841183 | ATTT | A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(90): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0014others(90): Show | 93 | 270 | 0.3444 | -3 | c.184 others(24): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRAL_chr6_42777052_42873556 | 42844508 | CAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00639.hp1 others(25): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0125a0001c0001t0001g0139a0001c0001t0001g0148others(25): Show | 28 | 270 | 0.1037 | -3 | c.184 others(22): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRAL_chr6_42777052_42873556 | 42845195 | GTTT | G | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG01516.hp1 others(9): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0083a0001c0001t0001g0180a0001c0001t0001g0221others(9): Show | 12 | 270 | 0.0444 | -3 | c.184 others(22): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47607110 | TTTC | T | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG01261.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0003others(9): Show | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0048others(36): Show | 39 | 312 | 0.1250 | -3 | c.-21 others(14): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 2023 | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47608836 | AGAG | A | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01891.hp1 HG02257.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0002a0002c0005others(5): Show | a0001c0003t0003a0001c0003t0006a0002c0002t0002others(7): Show | a0001c0003t0003g0206a0001c0003t0003g0301a0001c0003t0006g0302others(9): Show | 12 | 312 | 0.0385 | -3 | c.-43 others(12): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 297 | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47608893 | GTTT | G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(123): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0051others(122): Show | 126 | 312 | 0.4039 | -3 | c.-38 others(12): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 240 | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47624992 | CTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00673.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0028a0001c0001t0001g0032others(20): Show | 23 | 312 | 0.0737 | -3 | c.-10 others(24): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47629577 | CGAT | C | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG03453.hp1 others(1): Show |
a0001a0002 | a0001c0003a0001c0008a0002c0009others(1): Show | a0001c0003t0006a0001c0008t0006a0002c0009t0002others(1): Show | a0001c0003t0006g0103a0001c0008t0006g0288a0002c0009t0002g0287others(1): Show | 4 | 312 | 0.0128 | -3 | c.-10 others(24): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47639629 | ATTT | A | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01433.hp2 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0004others(9): Show | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0106others(25): Show | 28 | 312 | 0.0897 | -3 | c.-10 others(24): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47641070 | ATTT | A | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01070.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0003t0006a0001c0008t0006others(5): Show | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0102others(27): Show | 30 | 312 | 0.0962 | -3 | c.-10 others(24): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47656261 | AAAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(130): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(20): Show | a0001c0001t0001g0014a0001c0001t0001g0043a0001c0001t0001g0048others(130): Show | 133 | 312 | 0.4263 | -3 | c.-10 others(24): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47659733 | CGTT | C | intron_variant | MODIFIER | HG00438.hp1 HG02630.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0008a0001c0017 | a0001c0001t0002a0001c0008t0006a0001c0017t0006 | a0001c0001t0002g0256a0001c0008t0006g0239a0001c0017t0006g0308 | 3 | 312 | 0.0096 | -3 | c.-10 others(24): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47674229 | TGAG | T | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02886.hp2 others(5): Show |
a0001a0002a0014 | a0001c0003a0001c0013a0002c0036others(1): Show | a0001c0003t0003a0001c0003t0006a0001c0013t0006others(2): Show | a0001c0003t0003g0013a0001c0003t0006g0100a0001c0003t0006g0103others(5): Show | 8 | 312 | 0.0256 | -3 | c.84+ others(16): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47689681 | GATT | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(237): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0006a0001c0008others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0019others(237): Show | 240 | 312 | 0.7692 | -3 | c.228 others(22): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47700639 | CAAT | C | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0003a0001c0008a0001c0013others(1): Show | a0001c0003t0006a0001c0008t0006a0001c0013t0006others(1): Show | a0001c0003t0006g0100a0001c0003t0006g0103a0001c0003t0006g0302others(6): Show | 9 | 312 | 0.0289 | -3 | c.359 others(20): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47706276 | CAAA | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01243.hp1 HG01255.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0004others(6): Show | a0001c0001t0001g0043a0001c0001t0001g0218a0001c0003t0003g0013others(15): Show | 18 | 312 | 0.0577 | -3 | c.*38 others(14): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 3000 | chr19 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17736457 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(184): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(179): Show | 187 | 362 | 0.5166 | -3 | c.577 others(18): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17739176 | ATCT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(226): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(221): Show | 229 | 362 | 0.6326 | -3 | c.363 others(18): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 4/5 | chr22 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17742274 | TGGA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(87): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0019others(84): Show | 90 | 362 | 0.2486 | -3 | c.223 others(20): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 3/5 | chr22 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17746355 | TAAG | T | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0032a0001c0001t0001g0061a0001c0001t0001g0078others(2): Show | 5 | 362 | 0.0138 | -3 | c.13- others(18): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 2/5 | chr22 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17755082 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(230): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(224): Show | 233 | 362 | 0.6437 | -3 | c.-58 others(20): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17756417 | TTTC | T | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02622.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0098a0001c0001t0001g0130others(9): Show | 12 | 362 | 0.0332 | -3 | c.-58 others(20): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17756429 | TTTC | T | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp2 HG01256.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0022a0001c0001t0001g0032a0001c0001t0001g0068others(32): Show | 35 | 362 | 0.0967 | -3 | c.-58 others(20): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17756464 | TTTC | T | intron_variant | MODIFIER | HG02630.hp1 HG02970.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0128a0001c0001t0003g0143a0001c0001t0003g0185others(2): Show | 5 | 362 | 0.0138 | -3 | c.-58 others(20): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
BIK_chr22_43105750_43134712 | 43107143 | TCTC | T | upstream_gene_variant | MODIFIER | HG02895.hp2 HG02976.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0060a0001c0001t0001g0184a0001c0001t0003g0067 | 3 | 386 | 0.0078 | -3 | c.-36 others(14): Show |
BIK | ENSG00000100290.3 | transcript | ENST00000216115.3 | protein_coding | 3606 | chr22 | TogoVar | ||||||
BIK_chr22_43105750_43134712 | 43107317 | GAAA | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01167.hp1 HG01168.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0003a0001c0001t0001g0021a0001c0001t0001g0029others(13): Show | 26 | 386 | 0.0674 | -3 | c.-34 others(14): Show |
BIK | ENSG00000100290.3 | transcript | ENST00000216115.3 | protein_coding | 3432 | chr22 | TogoVar | ||||||
BIK_chr22_43105750_43134712 | 43126029 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp2 others(29): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(10): Show | 32 | 386 | 0.0829 | -3 | c.162 others(20): Show |
BIK | ENSG00000100290.3 | transcript | ENST00000216115.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BIK_chr22_43105750_43134712 | 43130417 | CTTT | C | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01168.hp1 HG01169.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0072a0001c0001t0001g0073others(3): Show | 6 | 386 | 0.0155 | -3 | c.*11 others(14): Show |
BIK | ENSG00000100290.3 | transcript | ENST00000216115.3 | protein_coding | 706 | chr22 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127105467 | CCCT | C | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG01106.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0169a0001c0001t0001g0170a0001c0001t0001g0171others(12): Show | 16 | 344 | 0.0465 | -3 | c.84+ others(18): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51277299 | CAAA | C | downstream_gene_variant | MODIFIER | HG00609.hp2 HG02109.hp2 NA18957.hp2 others(8): Show |
a0001a0002 | a0001c0004a0002c0007 | a0001c0004t0001a0002c0007t0001 | a0001c0004t0001g0291a0001c0004t0001g0305a0001c0004t0001g0306others(8): Show | 11 | 400 | 0.0275 | -3 | c.*41 others(14): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 3738 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51279916 | CTTT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00597.hp2 others(33): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0005others(2): Show | a0001c0001t0002a0003c0003t0001a0004c0005t0001others(3): Show | a0001c0001t0002g0210a0001c0001t0002g0232a0003c0003t0001g0116others(32): Show | 36 | 400 | 0.0900 | -3 | c.*15 others(14): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1121 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51283552 | ATCC | A | intron_variant | MODIFIER | HG02451.hp1 HG02647.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020a0001c0001t0002g0217a0001c0001t0002g0218others(3): Show | 6 | 400 | 0.0150 | -3 | c.166 others(22): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 12/12 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51289221 | TAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0019a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0010others(182): Show | 196 | 400 | 0.4900 | -3 | c.151 others(22): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 10/12 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51294136 | TAAC | T | intron_variant | MODIFIER | HG01361.hp1 HG02976.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241a0001c0001t0001g0248a0001c0001t0001g0265 | 3 | 400 | 0.0075 | -3 | c.761 others(20): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51295392 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00642.hp1 others(49): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0009a0001c0019others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0002others(5): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0018others(46): Show | 52 | 400 | 0.1300 | -3 | c.761 others(18): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51295578 | ATAT | A | intron_variant | MODIFIER | HG02071.hp2 NA19054.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138a0001c0001t0001g0150a0001c0001t0001g0304 | 3 | 400 | 0.0075 | -3 | c.761 others(18): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51320631 | ATTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(89): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0004t0001a0003c0003t0001 | a0001c0001t0001g0017a0001c0001t0001g0163a0001c0001t0001g0276others(87): Show | 92 | 400 | 0.2300 | -3 | c.81+ others(18): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51320634 | CTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00597.hp2 others(45): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0007others(4): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(6): Show | a0001c0001t0001g0079a0001c0001t0001g0271a0001c0001t0001g0272others(43): Show | 48 | 400 | 0.1200 | -3 | c.81+ others(18): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51320801 | AGAG | A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0055a0002c0002t0001g0056a0002c0002t0001g0059others(3): Show | 7 | 400 | 0.0175 | -3 | c.81+ others(18): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22616866 | CTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0146a0001c0001t0001g0147others(47): Show | 51 | 386 | 0.1321 | -3 | c.*45 others(14): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 3551 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22619618 | ACAT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(150): Show |
a0001a0003a0004 | a0001c0001a0001c0009a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0032a0001c0001t0002g0005a0001c0001t0002g0006others(144): Show | 153 | 386 | 0.3964 | -3 | c.*18 others(14): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 799 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22620417 | GTTT | G | splice_region_variant | LOW | HG00323.hp1 HG00621.hp2 HG00735.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0009a0001c0011others(1): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0020others(4): Show | a0001c0001t0004g0014a0001c0001t0004g0208a0001c0001t0004g0209others(20): Show | 24 | 386 | 0.0622 | -3 | c.*10 others(14): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 9/9 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22640175 | CCTT | C | intron_variant | MODIFIER | HG02976.hp2 HG03098.hp1 HG03579.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0018 | a0001c0001t0010g0102a0001c0001t0010g0103a0001c0001t0010g0104others(2): Show | 5 | 386 | 0.0130 | -3 | c.58- others(18): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22645165 | CAAA | C | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017 | a0001c0001t0004g0014a0001c0001t0004g0208a0001c0001t0004g0209others(4): Show | 8 | 386 | 0.0207 | -3 | c.9-3 others(14): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22649968 | TATC | T | intron_variant | MODIFIER | HG01099.hp2 HG02486.hp1 HG03209.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0003 | a0001c0001t0007g0292a0001c0001t0007g0324a0001c0001t0007g0325others(3): Show | 6 | 386 | 0.0155 | -3 | c.9-5 others(16): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22661938 | GCAC | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(288): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0011others(268): Show | 291 | 386 | 0.7539 | -3 | c.8+7 others(16): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22667292 | GCTA | G | intron_variant | MODIFIER | HG01099.hp2 HG03209.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0324a0001c0001t0007g0325a0001c0001t0007g0326others(1): Show | 4 | 386 | 0.0104 | -3 | c.8+1 others(16): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIRC3_chr11_102312484_102344403 | 102322777 | TAAA | T | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG01256.hp2 HG02258.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0008a0001c0001t0016a0003c0005t0020 | a0001c0001t0008g0037a0001c0001t0008g0048a0001c0001t0008g0050others(4): Show | 9 | 384 | 0.0234 | -3 | c.-17 others(14): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 1707 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
BIRC5_chr17_78209253_78230635 | 78220427 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(178): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0009others(54): Show | 181 | 432 | 0.4190 | -3 | c.340 others(20): Show |
BIRC5 | ENSG00000089685.15 | transcript | ENST00000350051.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |