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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANO1_chr11_70073317_70194530 | 70126762 | C | TGGTGCAG others(91): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0015 | a0015c0028 | a0015c0028t0001 | a0015c0028t0001g0155 | 1 | 60 | 0.0167 | 98 | c.109 others(115): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 10/25 | chr11 | TogoVar | |||||||
ANO1_chr11_70073317_70194530 | 70126794 | G | GTGAATGC others(91): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(152): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0050 others(151): Show |
155 | 296 | 0.5236 | 98 | c.109 others(115): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO1_chr11_70073317_70194530 | 70126934 | G | GTGAGACG others(91): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00673.hp1 others(41): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0043 others(41): Show |
44 | 300 | 0.1467 | 98 | c.109 others(115): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO1_chr11_70073317_70194530 | 70126987 | G | GACATGAA others(91): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG01074.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0045 others(27): Show |
30 | 300 | 0.1000 | 98 | c.109 others(115): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO1_chr11_70073317_70194530 | 70126995 | T | TGCTAGAG others(91): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0009 | a0009c0030 | a0009c0030t0001 | a0009c0030t0001g0266 | 1 | 300 | 0.0033 | 98 | c.109 others(115): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO7_chr2_241183677_241230976 | 241218039 | G | GGGGGGCA others(91): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0006 | a0006c0006 | a0006c0006t0017 | a0006c0006t0017g0257 | 1 | 392 | 0.0026 | 98 | c.217 others(115): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89854895 | G | GGGGGGGG others(91): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01169.hp2 HG01258.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0008 | a0001c0001t0003g0067 a0001c0001t0003g0078 a0001c0001t0003g0090 others(16): Show |
19 | 300 | 0.0633 | 98 | c.345 others(117): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
APLP2_chr11_130064894_130149805 | 130090949 | A | ACCCCCAC others(91): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02818.hp2 HG03195.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0012 | a0002c0002t0008g0258 a0002c0002t0008g0259 a0002c0002t0008g0260 others(1): Show |
4 | 216 | 0.0185 | 98 | c.106 others(117): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
APLP2_chr11_130064894_130149805 | 130090949 | A | ACCCCCAC others(91): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 213 | 0.0047 | 98 | c.106 others(117): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
APLP2_chr11_130064894_130149805 | 130091031 | C | CGGGCGGG others(91): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 259 | 0.0039 | 98 | c.106 others(117): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
APOBEC3B_chr22_38977347_38997779 | 38988683 | C | CTCTCTTT others(91): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0163 | 1 | 82 | 0.0122 | 98 | c.570 others(113): Show |
APOBEC3B | ENSG00000179750.16 | transcript | ENST00000333467.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ARHGAP8_chr22_44747575_44867784 | 44800566 | C | CCTCCCCG others(91): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03471.hp1 |
a0001a0009 | a0001c0001a0009c0026 | a0001c0001t0003a0009c0026t0005 | a0001c0001t0003g0201 a0009c0026t0005g0066 |
2 | 368 | 0.0054 | 98 | c.80- others(113): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ARHGAP8_chr22_44747575_44867784 | 44800725 | G | GGCGCCCC others(91): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01496.hp1 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0269 a0001c0008t0001g0275 |
2 | 320 | 0.0063 | 98 | c.80- others(113): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 2/11 | chr22 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1897380 | G | GATCGGAT others(91): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01891.hp2 HG02015.hp1 others(10): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0002g0215 a0001c0002t0001g0046 a0001c0003t0001g0198 others(10): Show |
13 | 362 | 0.0359 | 98 | c.155 others(115): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1897458 | T | CTGTGGGC others(91): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0024 | a0002c0024t0044 | a0002c0024t0044g0115 | 1 | 362 | 0.0028 | 98 | c.155 others(115): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 14/28 | chr8 | TogoVar | |||||||
ARHGEF7_chr13_111110310_111310732 | 111221346 | T | TAGAGATA others(91): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0272 | 1 | 260 | 0.0038 | 98 | c.670 others(115): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ARHGEF7_chr13_111110310_111310732 | 111221346 | T | TAGATATA others(91): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01943.hp2 HG02148.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014 | a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0014g0147 others(2): Show |
5 | 264 | 0.0189 | 98 | c.670 others(115): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45899671 | T | TTATATAT others(91): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01081.hp2 HG01168.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0020 | a0001c0001t0001a0001c0001t0012a0002c0003t0001others(1): Show | a0001c0001t0001g0099 a0001c0001t0001g0230 a0001c0001t0001g0231 others(14): Show |
17 | 263 | 0.0646 | 98 | c.536 others(117): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARTN_chr1_43928801_43942240 | 43938442 | T | TGCAGCCG others(91): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 392 | 0.0051 | 98 | c.*16 others(109): Show |
ARTN | ENSG00000117407.17 | transcript | ENST00000372359.10 | protein_coding | 1203 | chr1 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62362518 | T | TATATAAA others(91): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 310 | 0.0032 | 98 | c.491 others(115): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 117016642 | A | AACCTATA others(91): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0009 | 1 | 72 | 0.0139 | 98 | c.142 others(117): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 81993360 | C | CTTCTTTC others(91): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0169 | 1 | 48 | 0.0208 | 98 | c.108 others(115): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160653838 | A | AAATATAT others(91): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01516.hp1 HG02257.hp2 others(9): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0018 a0001c0001t0001g0228 a0001c0001t0002g0174 others(9): Show |
12 | 163 | 0.0736 | 98 | c.676 others(115): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653921 | A | AATATATG others(91): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02451.hp1 |
a0001a0015 | a0001c0005a0015c0026 | a0001c0005t0016a0015c0026t0002 | a0001c0005t0016g0109 a0015c0026t0002g0035 |
2 | 99 | 0.0202 | 98 | c.676 others(115): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194491800 | T | TCATCTCT others(91): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0016a0001c0002t0023 | a0001c0001t0012g0256 a0001c0001t0012g0257 a0001c0001t0012g0258 others(4): Show |
7 | 282 | 0.0248 | 98 | c.-53 others(109): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 4799 | chr3 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89677954 | T | TTATATAT others(91): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0326 | 1 | 165 | 0.0061 | 98 | c.-22 others(119): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP7A_chrX_77905693_78055395 | 77910191 | T | TGATGCAC others(91): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0003 | a0003c0004 | a0003c0004t0009 | a0003c0004t0009g0132 | 1 | 231 | 0.0043 | 98 | c.-66 others(107): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 501 | chrX | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63916544 | G | GGTTAATG others(91): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0079 | 1 | 298 | 0.0034 | 98 | c.394 others(115): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70003479 | A | ATATATAT others(91): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0036 | a0002c0002t0036g0017 | 1 | 51 | 0.0196 | 98 | c.522 others(119): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 829232 | T | TAAGGAAG others(91): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 164 | 0.0061 | 98 | c.216 others(113): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
B4GALNT2_chr17_49127769_49181840 | 49150166 | G | GCCCAGCC others(91): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01361.hp1 HG01515.hp1 others(5): Show |
a0001a0011 | a0001c0001a0011c0013 | a0001c0001t0001a0011c0013t0001 | a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0055 others(5): Show |
8 | 378 | 0.0212 | 98 | c.354 others(115): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 3/10 | chr17 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 28026957 | T | TTAATATA others(91): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 150 | 0.0067 | 98 | c.495 others(115): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 5/11 | chr2 | TogoVar | |||||||
BCKDK_chr16_31103386_31117791 | 31105141 | A | AGTCCGGG others(91): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 15 | 0.0667 | 98 | c.-35 others(109): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 3244 | chr16 | TogoVar | |||||||
BDP1_chr5_71450651_71572820 | 71525448 | C | CCCCCACC others(91): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18944.hp2 |
a0002a0036 | a0002c0002a0036c0040 | a0002c0002t0001a0036c0040t0001 | a0002c0002t0001g0154 a0036c0040t0001g0153 |
2 | 324 | 0.0062 | 98 | c.577 others(117): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 25/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202384569 | T | TTTCTTTC others(91): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0149 | 1 | 12 | 0.0833 | 98 | c.76+ others(113): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202535064 | T | TCGGCTGG others(91): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 219 | 0.0046 | 98 | c.127 others(117): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BRD1_chr22_49768283_49832873 | 49775835 | C | CTGTGTGA others(91): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02615.hp2 HG03654.hp1 others(2): Show |
a0001a0006 | a0001c0001a0001c0005a0006c0011 | a0001c0001t0001a0001c0005t0001a0006c0011t0001 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 others(2): Show |
5 | 256 | 0.0195 | 98 | c.323 others(113): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 11/12 | chr22 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1430116 | C | CGGTCTGG others(91): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01516.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0036 a0001c0001t0003g0223 a0001c0001t0004g0139 others(1): Show |
4 | 340 | 0.0118 | 98 | c.92- others(113): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1430163 | C | CGGTCTGG others(91): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01891.hp1 HG03239.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0002c0002t0016a0002c0002t0023others(1): Show | a0001c0001t0013g0026 a0002c0002t0016g0254 a0002c0002t0023g0230 others(3): Show |
6 | 315 | 0.0190 | 98 | c.92- others(113): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1430190 | T | TCAGCAGT others(91): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0244 | 1 | 283 | 0.0035 | 98 | c.92- others(113): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1430210 | C | CGGTCTGG others(91): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 335 | 0.0030 | 98 | c.92- others(113): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1432053 | C | CGGTCTGG others(91): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0231 | 1 | 347 | 0.0029 | 98 | c.92- others(113): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BSG_chr19_567596_588493 | 570682 | G | GGAGGGGC others(91): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0146 | 1 | 128 | 0.0078 | 98 | c.-19 others(109): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1913 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 570682 | G | GGAGGGGG others(91): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0020a0001c0002t0001a0001c0003t0006 | a0001c0001t0020g0024 a0001c0002t0001g0001 a0001c0003t0006g0003 others(2): Show |
8 | 135 | 0.0593 | 98 | c.-19 others(109): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1913 | chr19 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38374305 | A | ATATATAT others(91): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0218 | 1 | 196 | 0.0051 | 98 | c.115 others(119): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38374306 | T | TATATATA others(91): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0121 | a0001c0001t0121g0078 | 1 | 220 | 0.0045 | 98 | c.115 others(119): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTN1A1_chr6_26495303_26515425 | 26514199 | T | TTATATAT others(91): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01361.hp1 HG04184.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0004g0049 |
5 | 183 | 0.0273 | 98 | c.*50 others(109): Show |
BTN1A1 | ENSG00000124557.14 | transcript | ENST00000684113.1 | protein_coding | 3775 | chr6 | TogoVar | |||||||
BTN1A1_chr6_26495303_26515425 | 26514199 | T | TTATATAT others(91): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 179 | 0.0056 | 98 | c.*50 others(109): Show |
BTN1A1 | ENSG00000124557.14 | transcript | ENST00000684113.1 | protein_coding | 3775 | chr6 | TogoVar | |||||||
BTRC_chr10_101349165_101562313 | 101366866 | A | ATATTTAT others(91): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0015 | 1 | 264 | 0.0038 | 98 | c.48+ others(115): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
C10orf143_chr10_130058896_130115830 | 130096569 | A | AAGAAAAT others(91): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(230): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(162): Show |
233 | 392 | 0.5944 | 98 | c.69+ others(115): Show |
C10orf143 | ENSG00000237489.5 | transcript | ENST00000637128.2 | protein_coding | 1/3 | chr10 | TogoVar |