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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BTBD9_chr6_38163451_38644929 | 38440439 | G | GACT | intron_variant | MODIFIER | HG02630.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0099a0001c0001t0165 | a0001c0001t0099g0177 a0001c0001t0165g0078 |
2 | 224 | 0.0089 | 3 | c.115 others(24): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38465834 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00741.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0016others(17): Show | a0001c0001t0001g0212 a0001c0001t0010g0145 a0001c0001t0016g0034 others(17): Show |
20 | 224 | 0.0893 | 3 | c.115 others(26): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38471547 | C | CGTT | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG01261.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014a0001c0001t0016others(24): Show | a0001c0001t0005g0025 a0001c0001t0014g0030 a0001c0001t0016g0069 others(24): Show |
27 | 224 | 0.1205 | 3 | c.115 others(26): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38475370 | C | CAAT | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG01261.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014a0001c0001t0016others(24): Show | a0001c0001t0005g0025 a0001c0001t0014g0030 a0001c0001t0016g0069 others(24): Show |
27 | 224 | 0.1205 | 3 | c.115 others(26): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38498457 | T | TAAA | intron_variant | MODIFIER | HG00323.hp1 HG01071.hp2 HG01167.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(8): Show | a0001c0001t0003g0056 a0001c0001t0007g0017 a0001c0001t0007g0018 others(11): Show |
14 | 224 | 0.0625 | 3 | c.115 others(24): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38501806 | A | AAGG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(179): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(145): Show | a0001c0001t0001g0101 a0001c0001t0001g0197 a0001c0001t0001g0198 others(179): Show |
182 | 224 | 0.8125 | 3 | c.115 others(24): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38505964 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01109.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0015a0001c0001t0016others(20): Show | a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0015g0076 others(21): Show |
24 | 224 | 0.1071 | 3 | c.115 others(24): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38507828 | A | ATTT | intron_variant | MODIFIER | HG02132.hp1 NA18970.hp1 NA18973.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020a0001c0001t0053others(2): Show | a0001c0001t0002g0202 a0001c0001t0020g0129 a0001c0001t0020g0131 others(3): Show |
6 | 224 | 0.0268 | 3 | c.115 others(24): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38509169 | A | AGGT | intron_variant | MODIFIER | HG02132.hp1 NA18970.hp1 NA18973.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0020others(3): Show | a0001c0001t0002g0202 a0001c0001t0006g0130 a0001c0001t0020g0129 others(4): Show |
7 | 224 | 0.0313 | 3 | c.115 others(24): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38527263 | C | CAAA | intron_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG02922.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0038a0001c0001t0054others(8): Show | a0001c0001t0002g0102 a0001c0001t0038g0187 a0001c0001t0054g0084 others(8): Show |
11 | 224 | 0.0491 | 3 | c.115 others(24): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38534475 | C | CAAA | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG03654.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0010others(7): Show | a0001c0001t0006g0130 a0001c0001t0009g0019 a0001c0001t0010g0016 others(7): Show |
10 | 224 | 0.0446 | 3 | c.115 others(24): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38534475 | C | CCAA | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01261.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0017a0001c0001t0045others(13): Show | a0001c0001t0016g0069 a0001c0001t0017g0004 a0001c0001t0017g0006 others(14): Show |
17 | 224 | 0.0759 | 3 | c.115 others(24): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74749679 | G | GTTT | intron_variant | MODIFIER | HG01167.hp1 HG02486.hp2 HG02723.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0002a0002c0002t0002a0002c0002t0007others(1): Show | a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0206 others(4): Show |
7 | 360 | 0.0194 | 3 | c.428 others(18): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74749745 | C | CAAA | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00735.hp1 others(42): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0003a0003c0003t0005a0003c0003t0006others(5): Show | a0003c0003t0003g0007 a0003c0003t0003g0022 a0003c0003t0003g0033 others(34): Show |
45 | 360 | 0.1250 | 3 | c.428 others(18): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74749931 | C | CAAA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02145.hp1 others(10): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0002a0001c0001t0004a0002c0002t0002others(2): Show | a0001c0001t0002g0155 a0001c0001t0004g0208 a0002c0002t0002g0045 others(8): Show |
13 | 360 | 0.0361 | 3 | c.428 others(18): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74783587 | C | CTTT | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02145.hp2 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0013others(5): Show | a0001c0001t0001g0109 a0002c0002t0001g0043 a0002c0002t0001g0046 others(7): Show |
10 | 360 | 0.0278 | 3 | c.64+ others(20): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74786967 | A | ATTT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00738.hp1 others(46): Show |
a0002a0004a0005 | a0002c0002a0004c0004a0005c0005 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0002c0002t0001g0009 a0002c0002t0001g0042 a0002c0002t0001g0043 others(41): Show |
49 | 360 | 0.1361 | 3 | c.64+ others(18): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74798892 | T | TTTG | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(140): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0019 others(120): Show |
143 | 360 | 0.3972 | 3 | c.-45 others(14): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 4370 | chr4 | TogoVar | |||||||
BTD_chr3_15596745_15658714 | 15606042 | C | CAAA | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02280.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0056a0001c0001t0077others(1): Show | a0001c0001t0011g0004 a0001c0001t0056g0004 a0001c0001t0077g0048 others(1): Show |
10 | 416 | 0.0240 | 3 | c.-17 others(20): Show |
BTD | ENSG00000169814.17 | transcript | ENST00000643237.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BTD_chr3_15596745_15658714 | 15626780 | C | CAAA | intron_variant | MODIFIER | HG02056.hp2 HG03209.hp2 HG03516.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025a0001c0001t0029 | a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0178 others(4): Show |
8 | 416 | 0.0192 | 3 | c.-16 others(20): Show |
BTD | ENSG00000169814.17 | transcript | ENST00000643237.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BTF3L4_chr1_52051295_52095716 | 52053099 | C | CAAA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00609.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0091 a0001c0001t0003g0017 a0001c0001t0003g0018 others(41): Show |
46 | 276 | 0.1667 | 3 | c.-32 others(14): Show |
BTF3L4 | ENSG00000134717.18 | transcript | ENST00000313334.13 | protein_coding | 3195 | chr1 | TogoVar | |||||||
BTF3L4_chr1_52051295_52095716 | 52073492 | A | ATGC | intron_variant | MODIFIER | HG02027.hp2 HG02071.hp2 HG02129.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0021a0001c0001t0023 | a0001c0001t0004g0003 a0001c0001t0004g0047 a0001c0001t0004g0050 others(5): Show |
8 | 276 | 0.0290 | 3 | c.168 others(20): Show |
BTF3L4 | ENSG00000134717.18 | transcript | ENST00000313334.13 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BTF3L4_chr1_52051295_52095716 | 52078229 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(140): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(130): Show |
143 | 276 | 0.5181 | 3 | c.169 others(20): Show |
BTF3L4 | ENSG00000134717.18 | transcript | ENST00000313334.13 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BTF3L4_chr1_52051295_52095716 | 52088913 | A | ATTT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG01167.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012a0001c0001t0014others(1): Show | a0001c0001t0009g0004 a0001c0001t0009g0053 a0001c0001t0009g0054 others(10): Show |
13 | 276 | 0.0471 | 3 | c.*21 others(14): Show |
BTF3L4 | ENSG00000134717.18 | transcript | ENST00000313334.13 | protein_coding | 6/6 | 2174 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BTF3_chr5_73493442_73510667 | 73502158 | C | CAAA | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01891.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 a0001c0002t0001g0045 a0001c0002t0001g0083 others(1): Show |
7 | 408 | 0.0172 | 3 | c.202 others(18): Show |
BTF3 | ENSG00000145741.17 | transcript | ENST00000380591.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTF3_chr5_73493442_73510667 | 73504267 | C | CTTT | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG00735.hp1 others(61): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0011 others(19): Show |
64 | 408 | 0.1569 | 3 | c.518 others(16): Show |
BTF3 | ENSG00000145741.17 | transcript | ENST00000380591.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTG2_chr1_203300519_203314602 | 203302507 | C | CAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG02165.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0017 |
6 | 436 | 0.0138 | 3 | c.-31 others(14): Show |
BTG2 | ENSG00000159388.6 | transcript | ENST00000290551.5 | protein_coding | 3011 | chr1 | TogoVar | |||||||
BTG3_chr21_17588653_17617901 | 17614102 | T | TAAA | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(84): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(24): Show |
87 | 402 | 0.2164 | 3 | c.-14 others(14): Show |
BTG3 | ENSG00000154640.15 | transcript | ENST00000348354.7 | protein_coding | 1202 | chr21 | TogoVar | |||||||
BTG3_chr21_17588653_17617901 | 17617300 | A | ATTG | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02055.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0020 a0001c0001t0001g0043 a0001c0001t0001g0122 others(3): Show |
10 | 402 | 0.0249 | 3 | c.-46 others(14): Show |
BTG3 | ENSG00000154640.15 | transcript | ENST00000348354.7 | protein_coding | 4400 | chr21 | TogoVar | |||||||
BTG4_chr11_111489815_111517386 | 111496892 | G | GAAA | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00741.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0026 others(5): Show |
19 | 354 | 0.0537 | 3 | c.510 others(18): Show |
BTG4 | ENSG00000137707.14 | transcript | ENST00000692032.1 | protein_coding | 4/4 | chr11 | TogoVar | |||||||
BTK_chrX_101344450_101391191 | 101345233 | C | CAAA | downstream_gene_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0184 | 1 | 303 | 0.0033 | 3 | c.*46 others(14): Show |
BTK | ENSG00000010671.18 | transcript | ENST00000308731.8 | protein_coding | 4216 | chrX | TogoVar | |||||||
BTK_chrX_101344450_101391191 | 101345993 | G | GATC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(172): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(159): Show |
175 | 303 | 0.5776 | 3 | c.*38 others(14): Show |
BTK | ENSG00000010671.18 | transcript | ENST00000308731.8 | protein_coding | 3456 | chrX | TogoVar | |||||||
BTK_chrX_101344450_101391191 | 101352162 | C | CAAA | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG01256.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(25): Show |
34 | 303 | 0.1122 | 3 | c.190 others(22): Show |
BTK | ENSG00000010671.18 | transcript | ENST00000308731.8 | protein_coding | 18/18 | chrX | TogoVar | |||||||
BTK_chrX_101344450_101391191 | 101363887 | C | CATT | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG01168.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003 | a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0001g0043 others(14): Show |
20 | 303 | 0.0660 | 3 | c.392 others(20): Show |
BTK | ENSG00000010671.18 | transcript | ENST00000308731.8 | protein_coding | 5/18 | chrX | TogoVar | |||||||
BTK_chrX_101344450_101391191 | 101367044 | G | GTTC | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0213 | 1 | 303 | 0.0033 | 3 | c.391 others(20): Show |
BTK | ENSG00000010671.18 | transcript | ENST00000308731.8 | protein_coding | 5/18 | chrX | TogoVar | |||||||
BTK_chrX_101344450_101391191 | 101367393 | T | TCTG | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0213 | 1 | 303 | 0.0033 | 3 | c.391 others(20): Show |
BTK | ENSG00000010671.18 | transcript | ENST00000308731.8 | protein_coding | 5/18 | chrX | TogoVar | |||||||
BTK_chrX_101344450_101391191 | 101378083 | A | ATTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(81): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0021 others(75): Show |
84 | 303 | 0.2772 | 3 | c.-30 others(20): Show |
BTK | ENSG00000010671.18 | transcript | ENST00000308731.8 | protein_coding | 1/18 | chrX | TogoVar | |||||||
BTK_chrX_101344450_101391191 | 101387347 | C | CTTT | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0040 | 1 | 303 | 0.0033 | 3 | c.-13 others(14): Show |
BTK | ENSG00000010671.18 | transcript | ENST00000308731.8 | protein_coding | 1157 | chrX | TogoVar | |||||||
BTLA_chr3_112458966_112504472 | 112488228 | C | CTTT | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01070.hp2 others(17): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0003c0003t0005others(3): Show | a0001c0001t0001g0261 a0001c0001t0002g0032 a0001c0001t0002g0262 others(14): Show |
20 | 344 | 0.0581 | 3 | c.89- others(18): Show |
BTLA | ENSG00000186265.10 | transcript | ENST00000334529.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
BTLA_chr3_112458966_112504472 | 112498568 | C | CTTT | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02486.hp2 others(5): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0002c0002t0010a0002c0002t0011others(2): Show | a0002c0002t0002g0171 a0002c0002t0010g0174 a0002c0002t0011g0048 others(5): Show |
8 | 344 | 0.0233 | 3 | c.88+ others(16): Show |
BTLA | ENSG00000186265.10 | transcript | ENST00000334529.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
BTN2A1_chr6_26452955_26474637 | 26458677 | C | CCCT | conservative_inframe_insertion | MODERATE | HG01884.hp1 HG02896.hp2 HG02897.hp2 others(2): Show |
a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0002 a0005c0009t0001g0030 |
5 | 420 | 0.0119 | 3 | c.58_ others(8): Show |
p.Leu others(5): Show |
BTN2A1 | ENSG00000112763.17 | transcript | ENST00000312541.10 | protein_coding | 2/8 | 279/2890 | 61/1584 | 21/527 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
BTN2A2_chr6_26378108_26399874 | 26381844 | A | ATTT | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01884.hp2 HG01891.hp1 others(29): Show |
a0001a0013 | a0001c0001a0013c0011 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0018 others(7): Show |
32 | 390 | 0.0821 | 3 | c.-13 others(14): Show |
BTN2A2 | ENSG00000124508.17 | transcript | ENST00000356709.9 | protein_coding | 1263 | chr6 | TogoVar | |||||||
BTN3A2_chr6_26360198_26383312 | 26374181 | C | CGTG | intron_variant | MODIFIER | HG01358.hp1 HG02055.hp1 HG02258.hp1 others(10): Show |
a0001 | a0001c0004 | a0001c0004t0009a0001c0004t0019a0001c0004t0020others(1): Show | a0001c0004t0009g0080 a0001c0004t0009g0081 a0001c0004t0009g0083 others(9): Show |
13 | 382 | 0.0340 | 3 | c.965 others(18): Show |
BTN3A2 | ENSG00000186470.14 | transcript | ENST00000377708.7 | protein_coding | 8/10 | chr6 | TogoVar | |||||||
BTN3A2_chr6_26360198_26383312 | 26374201 | T | TAAA | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01361.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0010a0001c0004t0018 | a0001c0001t0001g0026 a0001c0001t0001g0140 a0001c0001t0001g0145 others(6): Show |
11 | 382 | 0.0288 | 3 | c.965 others(16): Show |
BTN3A2 | ENSG00000186470.14 | transcript | ENST00000377708.7 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BTN3A2_chr6_26360198_26383312 | 26376232 | A | AAAG | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00733.hp1 others(32): Show |
a0004a0005 | a0004c0005a0005c0006 | a0004c0005t0003a0004c0005t0049a0005c0006t0003 | a0004c0005t0003g0001 a0004c0005t0003g0029 a0004c0005t0003g0030 others(6): Show |
35 | 382 | 0.0916 | 3 | c.*47 others(12): Show |
BTN3A2 | ENSG00000186470.14 | transcript | ENST00000377708.7 | protein_coding | 11/11 | 1868 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BTN3A2_chr6_26360198_26383312 | 26381844 | A | ATTT | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG02055.hp2 others(26): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(7): Show | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0174 others(19): Show |
29 | 382 | 0.0759 | 3 | c.*60 others(14): Show |
BTN3A2 | ENSG00000186470.14 | transcript | ENST00000377708.7 | protein_coding | 3533 | chr6 | TogoVar | |||||||
BTNL2_chr6_32388339_32412181 | 32394272 | A | AGTT | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00735.hp2 others(99): Show |
a0003a0004a0005 | a0003c0004a0003c0013a0003c0021others(3): Show | a0003c0004t0002a0003c0013t0002a0003c0021t0002others(3): Show | a0003c0004t0002g0044 a0003c0004t0002g0070 a0003c0004t0002g0071 others(47): Show |
102 | 453 | 0.2252 | 3 | c.136 others(20): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
BTNL2_chr6_32388339_32412181 | 32400750 | A | ATAC | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01192.hp1 others(29): Show |
a0003a0006 | a0003c0008a0006c0007 | a0003c0008t0001a0006c0007t0001 | a0003c0008t0001g0006 a0003c0008t0001g0024 a0003c0008t0001g0122 others(7): Show |
32 | 453 | 0.0706 | 3 | c.730 others(20): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
BTNL2_chr6_32388339_32412181 | 32401207 | C | CAAA | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01123.hp2 others(9): Show |
a0001a0003 | a0001c0005a0003c0004a0003c0008 | a0001c0005t0001a0003c0004t0002a0003c0008t0001 | a0001c0005t0001g0052 a0003c0004t0002g0070 a0003c0004t0002g0074 others(3): Show |
12 | 453 | 0.0265 | 3 | c.730 others(18): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
BTNL2_chr6_32388339_32412181 | 32405813 | T | TTTG | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01071.hp1 others(70): Show |
a0002a0014 | a0002c0002a0014c0015 | a0002c0002t0001a0014c0015t0001 | a0002c0002t0001g0002 a0002c0002t0001g0011 a0002c0002t0001g0016 others(27): Show |
73 | 453 | 0.1612 | 3 | c.80- others(16): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 1/7 | chr6 | TogoVar |