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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMYD3_chr1_245744347_246512279 | 246325070 | G | GGGGGGGC others(420): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 150 | 0.0067 | 427 | c.531 others(444): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 965110 | A | ACCCCAGT others(420): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0014 | 1 | 190 | 0.0053 | 427 | c.72+ others(444): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 965285 | A | ACCCCAAT others(420): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0163 | 1 | 190 | 0.0053 | 427 | c.72+ others(444): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(420): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 251 | 0.0040 | 427 | c.*34 others(436): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(420): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0110 | 1 | 251 | 0.0040 | 427 | c.*34 others(436): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(420): Show |
downstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0132 | 1 | 251 | 0.0040 | 427 | c.*34 others(436): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(420): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 251 | 0.0040 | 427 | c.*34 others(436): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(420): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0185 | 1 | 260 | 0.0039 | 427 | c.138 others(446): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167109065 | T | TATATTTA others(420): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 144 | 0.0069 | 427 | c.190 others(446): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167109065 | T | TATATTTA others(420): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 144 | 0.0069 | 427 | c.190 others(446): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(420): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0004 | a0001c0004t0126 | a0001c0004t0126g0076 | 1 | 276 | 0.0036 | 427 | c.-18 others(446): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(420): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0169 | 1 | 276 | 0.0036 | 427 | c.-18 others(446): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(420): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0082 | 1 | 276 | 0.0036 | 427 | c.-18 others(446): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(420): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0003 | a0001c0003t0098 | a0001c0003t0098g0053 | 1 | 276 | 0.0036 | 427 | c.-18 others(446): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(420): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0003 | a0001c0003t0089 | a0001c0003t0089g0074 | 1 | 276 | 0.0036 | 427 | c.-18 others(446): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 47128213 | C | CCTCCCCT others(420): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0055 | 1 | 112 | 0.0089 | 427 | c.142 others(448): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235412166 | C | CCCTCCCC others(420): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0247 | 1 | 268 | 0.0037 | 427 | c.186 others(444): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377528 | G | GCCCCCAC others(420): Show |
upstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 370 | 0.0027 | 427 | c.-15 others(438): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1503 | chr19 | TogoVar | |||||||
TRAF7_chr16_2150782_2183129 | 2164202 | G | GCCTGGTT others(420): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 320 | 0.0031 | 427 | c.81+ others(440): Show |
TRAF7 | ENSG00000131653.14 | transcript | ENST00000326181.11 | protein_coding | 2/20 | chr16 | TogoVar | |||||||
TRIM28_chr19_58539064_58555715 | 58540921 | G | GACCCTGC others(420): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02451.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0041 |
23 | 402 | 0.0572 | 427 | c.-38 others(438): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 3142 | chr19 | TogoVar | |||||||
TRMO_chr9_97899489_97927500 | 97913251 | T | TAATCATT others(420): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03225.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0050 a0002c0002t0002g0053 |
2 | 374 | 0.0054 | 427 | c.409 others(442): Show |
TRMO | ENSG00000136932.15 | transcript | ENST00000375119.8 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
TRMO_chr9_97899489_97927500 | 97913251 | T | TAATCATT others(420): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(40): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 others(23): Show |
43 | 374 | 0.1150 | 427 | c.409 others(442): Show |
TRMO | ENSG00000136932.15 | transcript | ENST00000375119.8 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
TRMO_chr9_97899489_97927500 | 97913251 | T | TAATCATT others(420): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0022 | 2 | 374 | 0.0054 | 427 | c.409 others(442): Show |
TRMO | ENSG00000136932.15 | transcript | ENST00000375119.8 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
TRMO_chr9_97899489_97927500 | 97913251 | T | TAATCATT others(420): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02895.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0084 a0002c0002t0002g0086 |
2 | 374 | 0.0054 | 427 | c.409 others(442): Show |
TRMO | ENSG00000136932.15 | transcript | ENST00000375119.8 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63941959 | T | TGGGTGTG others(420): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 356 | 0.0028 | 427 | c.924 others(442): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 8/14 | chr20 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63942260 | G | GAATGGGG others(420): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02895.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0061 a0001c0001t0001g0198 a0001c0001t0001g0199 others(1): Show |
4 | 356 | 0.0112 | 427 | c.924 others(444): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 8/14 | chr20 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7678970 | T | TTATATAT others(420): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02717.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0039a0001c0001t0059a0001c0001t0061others(1): Show | a0001c0001t0039g0153 a0001c0001t0059g0151 a0001c0001t0061g0152 others(1): Show |
4 | 250 | 0.0160 | 427 | c.82+ others(442): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679000 | T | TATATTTA others(420): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0145 | 1 | 250 | 0.0040 | 427 | c.82+ others(442): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UNC13A_chr19_17596336_17693354 | 17631180 | T | TCCCTCCC others(420): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 320 | 0.0031 | 427 | c.342 others(444): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 28/43 | chr19 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215805835 | T | TTTGGGAT others(420): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02647.hp2 HG03453.hp1 others(1): Show |
a0024a0030a0050others(1): Show | a0024c0032a0030c0003a0050c0013others(1): Show | a0024c0032t0005a0030c0003t0001a0050c0013t0001others(1): Show | a0024c0032t0005g0032 a0030c0003t0001g0018 a0050c0013t0001g0023 others(1): Show |
4 | 74 | 0.0541 | 427 | c.974 others(446): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 49/71 | chr1 | TogoVar | |||||||
VCX2_chrX_8164944_8176267 | 8169723 | C | CCCTCCCT others(420): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0021 | 1 | 115 | 0.0087 | 427 | c.*30 others(436): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 220 | chrX | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11604262 | A | ATGAATTC others(420): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0123 |
2 | 388 | 0.0052 | 427 | c.83- others(442): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 645960 | C | CGCGTGGC others(420): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0003 | a0003c0004 | a0003c0004t0022 | a0003c0004t0022g0005 | 1 | 232 | 0.0043 | 427 | c.608 others(444): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 7/21 | chr17 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370969 | G | GATATATA others(420): Show |
upstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 350 | 0.0029 | 427 | c.-35 others(438): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3399 | chr10 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76401788 | C | CCCCCGCG others(420): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0310 | 1 | 346 | 0.0029 | 427 | c.181 others(448): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF85_chr19_20918251_20955697 | 20919183 | A | ATATATAT others(420): Show |
upstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 383 | 0.0026 | 427 | c.-42 others(438): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4067 | chr19 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975305 | A | ATAGATAA others(421): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 306 | 0.0033 | 428 | c.130 others(447): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975362 | T | TATAAATA others(421): Show |
intron_variant | MODIFIER | HG02717.hp2 NA20129.hp2 |
a0001 | a0001c0002a0001c0015 | a0001c0002t0006a0001c0015t0009 | a0001c0002t0006g0177 a0001c0015t0009g0292 |
2 | 306 | 0.0065 | 428 | c.130 others(447): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109209976 | C | CACACACG others(421): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG06807.hp2 |
a0001a0007a0014 | a0001c0064a0007c0037a0014c0121 | a0001c0064t0009a0007c0037t0004a0014c0121t0004 | a0001c0064t0009g0184 a0007c0037t0004g0073 a0014c0121t0004g0169 |
3 | 308 | 0.0097 | 428 | c.324 others(445): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(421): Show |
downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 352 | 0.0028 | 428 | c.*51 others(439): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(421): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0004 | a0004c0013 | a0004c0013t0039 | a0004c0013t0039g0069 | 1 | 262 | 0.0038 | 428 | c.106 others(447): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AFDN_chr6_167821911_167977023 | 167976167 | C | CAGGAGGC others(421): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0016 | a0016c0018 | a0016c0018t0002 | a0016c0018t0002g0239 | 1 | 326 | 0.0031 | 428 | c.*62 others(439): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 4145 | chr6 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830944 | A | AGGGGAAG others(421): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0033 | 1 | 80 | 0.0125 | 428 | c.667 others(447): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
APOOL_chrX_84998877_85098315 | 85088046 | G | GTATTTAT others(421): Show |
3_prime_UTR_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0235 | 1 | 256 | 0.0039 | 428 | c.*39 others(437): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP10A_chr15_25673712_25868327 | 25758477 | A | ATTCCGAC others(421): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0011 | a0011c0008 | a0011c0008t0001 | a0011c0008t0001g0197 | 1 | 300 | 0.0033 | 428 | c.655 others(447): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758645 | A | ACTCATTC others(421): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0015 | a0015c0047 | a0015c0047t0001 | a0015c0047t0001g0055 | 1 | 300 | 0.0033 | 428 | c.654 others(447): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758645 | A | ATTCCGAC others(421): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0007 | a0007c0086 | a0007c0086t0001 | a0007c0086t0001g0279 | 1 | 300 | 0.0033 | 428 | c.654 others(447): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758781 | A | ACTCATTC others(421): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02698.hp2 HG03688.hp2 others(1): Show |
a0001a0006a0013 | a0001c0001a0006c0007a0013c0010 | a0001c0001t0001a0006c0007t0002a0013c0010t0001 | a0001c0001t0001g0066 a0006c0007t0002g0294 a0013c0010t0001g0178 others(1): Show |
4 | 300 | 0.0133 | 428 | c.654 others(447): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83026615 | T | TACACAGA others(421): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01891.hp1 HG02132.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(1): Show | a0001c0001t0001g0051 a0001c0001t0001g0179 a0001c0001t0002g0058 others(5): Show |
8 | 266 | 0.0301 | 428 | c.297 others(445): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1417813 | C | CACTGTGT others(421): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0026 | a0001c0026t0018 | a0001c0026t0018g0183 | 1 | 360 | 0.0028 | 428 | c.92- others(445): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar |