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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TTLL9_chr20_31865634_31950000 | 31890150 | C | CTTCTTTC others(25): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01167.hp2 HG01515.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0004 | a0001c0001t0003g0024 a0001c0002t0001g0245 a0001c0002t0004g0150 |
3 | 190 | 0.0158 | 32 | c.113 others(49): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TTLL9_chr20_31865634_31950000 | 31890154 | C | CTTCCTTC others(25): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02922.hp1 HG04199.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0020a0001c0002t0001 | a0001c0001t0007g0167 a0001c0001t0020g0027 a0001c0002t0001g0226 |
3 | 41 | 0.0732 | 32 | c.113 others(49): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TTLL9_chr20_31865634_31950000 | 31890154 | C | CTTCCTTC others(25): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01884.hp2 HG02717.hp1 others(2): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0002a0001c0001t0010a0001c0002t0006others(2): Show | a0001c0001t0002g0093 a0001c0001t0010g0165 a0001c0002t0006g0201 others(2): Show |
5 | 43 | 0.1163 | 32 | c.113 others(49): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TTLL9_chr20_31865634_31950000 | 31890154 | C | CTTCTTTC others(25): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01496.hp2 HG01952.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0124 a0001c0001t0002g0170 a0001c0001t0003g0029 others(6): Show |
9 | 47 | 0.1915 | 32 | c.113 others(49): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TTN_chr2_178520989_178812423 | 178677335 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG02698.hp1 NA18612.hp1 NA18987.hp2 others(1): Show |
a0092a0140a0161others(1): Show | a0092c0167a0140c0206a0161c0184others(1): Show | a0092c0167t0001a0140c0206t0003a0161c0184t0002others(1): Show | a0092c0167t0001g0031 a0140c0206t0003g0009 a0161c0184t0002g0035 others(1): Show |
4 | 77 | 0.0519 | 32 | c.342 others(49): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 146/362 | chr2 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49123757 | A | ATTTTTTT others(25): Show |
downstream_gene_variant | MODIFIER | NA18940.hp1 NA18967.hp1 NA18974.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 5 | 164 | 0.0305 | 32 | c.*42 others(43): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 4024 | chr12 | TogoVar | |||||||
TUBGCP3_chr13_112480011_112593153 | 112491035 | T | TCTATCAT others(25): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 310 | 0.0032 | 32 | c.244 others(51): Show |
TUBGCP3 | ENSG00000126216.15 | transcript | ENST00000261965.8 | protein_coding | 20/21 | chr13 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23016969 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | NA18992.hp1 NA19009.hp1 |
a0001a0006 | a0001c0002a0006c0014 | a0001c0002t0002a0006c0014t0002 | a0001c0002t0002g0105 a0006c0014t0002g0254 |
2 | 165 | 0.0121 | 32 | c.175 others(49): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 13/22 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23016986 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 328 | 0.0030 | 32 | c.175 others(49): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 13/22 | chr15 | TogoVar | |||||||
TUBGCP6_chr22_50212694_50250023 | 50231699 | A | AATACAAA others(25): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0194 | 1 | 434 | 0.0023 | 32 | c.111 others(51): Show |
TUBGCP6 | ENSG00000128159.12 | transcript | ENST00000248846.10 | protein_coding | 3/24 | chr22 | TogoVar | |||||||
TULP4_chr6_158307465_158516828 | 158331733 | G | GTGTATAT others(25): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0186 | 1 | 123 | 0.0081 | 32 | c.252 others(51): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158385842 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0010 | a0002c0010t0013 | a0002c0010t0013g0081 | 1 | 92 | 0.0109 | 32 | c.253 others(51): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158453485 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 92 | 0.0109 | 32 | c.859 others(49): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TUNAR_chr14_95871832_95930571 | 95872180 | C | CAAAAAAA others(25): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 177 | 0.0056 | 32 | c.-49 others(43): Show |
TUNAR | ENSG00000250366.4 | transcript | ENST00000503525.3 | protein_coding | 4651 | chr14 | TogoVar | |||||||
TUSC3_chr8_15535263_15771638 | 15570954 | G | GTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18953.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 a0001c0001t0001g0280 |
2 | 54 | 0.0370 | 32 | c.138 others(51): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15617120 | A | ATGTGTGT others(25): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0155 | 1 | 93 | 0.0108 | 32 | c.139 others(49): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15648725 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 38 | 0.0263 | 32 | c.309 others(49): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TVP23A_chr16_10761675_10823794 | 10764620 | A | AGTCTATT others(25): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0119 | 1 | 408 | 0.0025 | 32 | c.*44 others(43): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 2054 | chr16 | TogoVar | |||||||
TVP23A_chr16_10761675_10823794 | 10803268 | T | TGTGTGTG others(25): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0066 | 1 | 362 | 0.0028 | 32 | c.89+ others(49): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
TVP23B_chr17_18776183_18811714 | 18783075 | C | CTATTTAT others(25): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 100 | 0.0100 | 32 | c.12+ others(47): Show |
TVP23B | ENSG00000171928.14 | transcript | ENST00000307767.13 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TVP23C_chr17_15531980_15568483 | 15565672 | C | CTGGCCTG others(25): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0243 | 1 | 422 | 0.0024 | 32 | c.-22 others(43): Show |
TVP23C | ENSG00000175106.17 | transcript | ENST00000518321.6 | protein_coding | 2190 | chr17 | TogoVar | |||||||
TXLNG_chrX_16781466_16849519 | 16782389 | A | AATATATA others(25): Show |
upstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 10 | 0.1000 | 32 | c.-40 others(43): Show |
TXLNG | ENSG00000086712.13 | transcript | ENST00000380122.10 | protein_coding | 4076 | chrX | TogoVar | |||||||
TXLNG_chrX_16781466_16849519 | 16830830 | C | CGTGTGTG others(25): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03540.hp1 HG03540.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0101 a0001c0001t0001g0122 a0001c0001t0001g0228 others(5): Show |
8 | 18 | 0.4444 | 32 | c.864 others(49): Show |
TXLNG | ENSG00000086712.13 | transcript | ENST00000380122.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530349 | T | TATAATAT others(25): Show |
intron_variant | MODIFIER | HG01074.hp1 HG03139.hp1 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0138 a0003c0004t0004g0142 |
2 | 148 | 0.0135 | 32 | c.392 others(49): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52552637 | C | CTCCCGCC others(25): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0204 | 1 | 236 | 0.0042 | 32 | c.-50 others(41): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 133 | chr14 | TogoVar | |||||||
TXNDC8_chr9_110298476_110342863 | 110299979 | A | ATATATAT others(25): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 274 | 0.0036 | 32 | c.*37 others(43): Show |
TXNDC8 | ENSG00000204193.12 | transcript | ENST00000423740.7 | protein_coding | 3496 | chr9 | TogoVar | |||||||
TXNIP_chr1_145987435_146001579 | 145999209 | T | TCAAGCAG others(25): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 406 | 0.0025 | 32 | c.-29 others(43): Show |
TXNIP | ENSG00000265972.6 | transcript | ENST00000582401.6 | protein_coding | 2631 | chr1 | TogoVar | |||||||
TXNRD1_chr12_104210779_104355307 | 104254644 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA19001.hp2 NA19240.hp2 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0001a0001c0011t0005 | a0001c0003t0001g0147 a0001c0011t0005g0116 |
2 | 207 | 0.0097 | 32 | c.243 others(49): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104254644 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03098.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0003a0001c0007t0005 | a0001c0003t0003g0098 a0001c0003t0003g0100 a0001c0007t0005g0282 |
3 | 208 | 0.0144 | 32 | c.243 others(49): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104254644 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0297 | 1 | 206 | 0.0049 | 32 | c.243 others(49): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104254644 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0141 | 1 | 206 | 0.0049 | 32 | c.243 others(49): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104267241 | C | CTCGTTCT others(25): Show |
intron_variant | MODIFIER | NA18947.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 a0001c0001t0001g0237 |
2 | 14 | 0.1429 | 32 | c.304 others(49): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104267241 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 others(41): Show |
44 | 56 | 0.7857 | 32 | c.304 others(49): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104267283 | C | CTTTCTTT others(25): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0109 | 1 | 296 | 0.0034 | 32 | c.304 others(49): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 3/16 | chr12 | TogoVar | |||||||
TXNRD1_chr12_104210779_104355307 | 104267653 | C | CCTTCTTT others(25): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0090 | 1 | 300 | 0.0033 | 32 | c.304 others(49): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 3/16 | chr12 | TogoVar | |||||||
TYR_chr11_89172875_89300759 | 89198754 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0284 | 1 | 212 | 0.0047 | 32 | c.103 others(51): Show |
TYR | ENSG00000077498.9 | transcript | ENST00000263321.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67210764 | G | GTCCGTCC others(25): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01069.hp1 others(51): Show |
a0002a0007a0011 | a0002c0003a0002c0004a0002c0007others(2): Show | a0002c0003t0002a0002c0003t0004a0002c0003t0013others(5): Show | a0002c0003t0002g0123 a0002c0003t0002g0124 a0002c0003t0002g0136 others(51): Show |
54 | 309 | 0.1748 | 32 | c.197 others(53): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67210764 | G | GTCTGTCC others(25): Show |
intron_variant | MODIFIER | HG03195.hp1 NA19240.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0210 a0002c0003t0002g0211 |
2 | 257 | 0.0078 | 32 | c.197 others(53): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UACA_chr15_70649554_70768558 | 70700301 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03453.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0023 | a0001c0003t0002g0209 a0001c0003t0023g0301 |
2 | 260 | 0.0077 | 32 | c.79- others(45): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70700318 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0271 | 1 | 264 | 0.0038 | 32 | c.79- others(45): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70712051 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02074.hp2 NA18967.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0022 a0001c0003t0002g0024 a0001c0003t0002g0203 |
3 | 247 | 0.0121 | 32 | c.79- others(49): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70735147 | T | TAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01123.hp2 HG01257.hp2 others(35): Show |
a0001a0002a0012 | a0001c0001a0001c0003a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0115 others(35): Show |
38 | 144 | 0.2639 | 32 | c.78+ others(49): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70735149 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0006 | a0006c0010 | a0006c0010t0003 | a0006c0010t0003g0295 | 1 | 308 | 0.0032 | 32 | c.78+ others(49): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UBA2_chr19_34423381_34476251 | 34457179 | A | AAAAAATA others(25): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0249 | 1 | 90 | 0.0111 | 32 | c.124 others(51): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34457179 | A | AAAATATA others(25): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0210 | 1 | 90 | 0.0111 | 32 | c.124 others(51): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA3_chr3_69049730_69085365 | 69066014 | T | TCCTATCT others(25): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 418 | 0.0024 | 32 | c.429 others(49): Show |
UBA3 | ENSG00000144744.18 | transcript | ENST00000361055.9 | protein_coding | 6/17 | chr3 | TogoVar | |||||||
UBAC2_chr13_99195854_99391504 | 99232399 | G | GAGATAGA others(25): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 201 | 0.0050 | 32 | c.32- others(47): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99232399 | G | GAGATAGA others(25): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0322 | 1 | 201 | 0.0050 | 32 | c.32- others(47): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99232399 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00609.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 others(10): Show |
13 | 213 | 0.0610 | 32 | c.32- others(47): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99330458 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA20129.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 a0001c0001t0003g0121 |
2 | 17 | 0.1176 | 32 | c.562 others(49): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |