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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TUSC3_chr8_15535263_15771638 | 15555139 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00597.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(5): Show | a0001c0001t0003g0024 a0001c0001t0003g0030 a0001c0001t0003g0031 others(71): Show |
74 | 187 | 0.3957 | -7 | c.138 others(26): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15648725 | CAAAAAAA | C | intron_variant | MODIFIER | HG02056.hp2 HG02886.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0242 a0001c0001t0002g0246 a0001c0001t0002g0256 others(3): Show |
6 | 43 | 0.1395 | -7 | c.309 others(24): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUT1_chr11_62570052_62596523 | 62578063 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(199): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(101): Show |
202 | 260 | 0.7769 | -7 | c.116 others(24): Show |
TUT1 | ENSG00000149016.16 | transcript | ENST00000476907.6 | protein_coding | 5/8 | chr11 | TogoVar | |||||||
TUT4_chr1_52418275_52558092 | 52498900 | AATTATAT | A | intron_variant | MODIFIER | HG01243.hp1 HG01257.hp2 HG01258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0121 others(6): Show |
9 | 220 | 0.0409 | -7 | c.100 others(26): Show |
TUT4 | ENSG00000134744.14 | transcript | ENST00000257177.9 | protein_coding | 4/29 | chr1 | TogoVar | |||||||
TUT4_chr1_52418275_52558092 | 52545966 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02486.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(14): Show |
17 | 156 | 0.1090 | -7 | c.-94 others(24): Show |
TUT4 | ENSG00000134744.14 | transcript | ENST00000257177.9 | protein_coding | 1/29 | chr1 | TogoVar | |||||||
TVP23A_chr16_10761675_10823794 | 10770868 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0033 a0001c0001t0001g0172 a0001c0001t0002g0040 others(4): Show |
7 | 171 | 0.0409 | -7 | c.583 others(22): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 6/7 | chr16 | TogoVar | |||||||
TVP23A_chr16_10761675_10823794 | 10793901 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01891.hp1 HG02257.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0002g0097 a0001c0001t0008g0093 a0001c0001t0008g0094 others(10): Show |
13 | 127 | 0.1024 | -7 | c.90- others(24): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
TVP23A_chr16_10761675_10823794 | 10794300 | ACATCATT | A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0005g0266 a0001c0001t0006g0364 a0001c0001t0006g0365 others(8): Show |
11 | 408 | 0.0270 | -7 | c.90- others(24): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
TVP23A_chr16_10761675_10823794 | 10816228 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01891.hp1 HG02559.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0012a0001c0001t0022a0001c0001t0024others(8): Show | a0001c0001t0012g0395 a0001c0001t0012g0397 a0001c0001t0022g0387 others(10): Show |
13 | 288 | 0.0451 | -7 | c.89+ others(22): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870691 | ACCACATC | A | intron_variant | MODIFIER | HG02280.hp1 HG03471.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 others(1): Show |
4 | 260 | 0.0154 | -7 | c.*35 others(26): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TXK_chr4_48061393_48139250 | 48066198 | TTTTTTTC | T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(61): Show |
a0001a0004a0005 | a0001c0001a0001c0007a0001c0009others(2): Show | a0001c0001t0001a0001c0007t0001a0001c0009t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(52): Show |
64 | 360 | 0.1778 | -7 | c.*14 others(18): Show |
TXK | ENSG00000074966.11 | transcript | ENST00000264316.9 | protein_coding | 194 | chr4 | TogoVar | |||||||
TXK_chr4_48061393_48139250 | 48104545 | TATATATA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0006a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0006g0244 a0001c0002t0001g0017 a0001c0002t0001g0092 others(47): Show |
58 | 360 | 0.1611 | -7 | c.501 others(22): Show |
TXK | ENSG00000074966.11 | transcript | ENST00000264316.9 | protein_coding | 6/14 | chr4 | TogoVar | |||||||
TXNDC11_chr16_11674083_11747857 | 11694097 | CTTTTTTT | C | intron_variant | MODIFIER | HG02027.hp1 NA18522.hp2 NA18949.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0011others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0011t0001others(1): Show | a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0001g0231 others(4): Show |
7 | 139 | 0.0504 | -7 | c.110 others(26): Show |
TXNDC11 | ENSG00000153066.13 | transcript | ENST00000283033.10 | protein_coding | 7/11 | chr16 | TogoVar | |||||||
TXNDC12_chr1_52015131_52060191 | 52046865 | AAATATAT | A | intron_variant | MODIFIER | HG01175.hp2 HG02109.hp1 HG02698.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0099 a0001c0001t0003g0026 a0001c0001t0003g0142 others(8): Show |
12 | 246 | 0.0488 | -7 | c.98- others(22): Show |
TXNDC12 | ENSG00000117862.13 | transcript | ENST00000371626.9 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
TXNDC8_chr9_110298476_110342863 | 110314425 | CTTTTTCT | C | intron_variant | MODIFIER | HG01891.hp2 HG02965.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0289 a0001c0001t0001g0291 others(1): Show |
4 | 408 | 0.0098 | -7 | c.196 others(24): Show |
TXNDC8 | ENSG00000204193.12 | transcript | ENST00000423740.7 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
TXNDC9_chr2_99313982_99341333 | 99330290 | CAAAAAAA | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01358.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0039 a0001c0001t0001g0113 others(6): Show |
14 | 41 | 0.3415 | -7 | c.190 others(24): Show |
TXNDC9 | ENSG00000115514.12 | transcript | ENST00000264255.8 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
TXNL4A_chr18_79965813_79993563 | 79969352 | AAAGAAAG | A | downstream_gene_variant | MODIFIER | NA18962.hp1 NA18998.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0096 |
3 | 388 | 0.0077 | -7 | c.*43 others(18): Show |
TXNL4A | ENSG00000141759.15 | transcript | ENST00000269601.10 | protein_coding | 1460 | chr18 | TogoVar | |||||||
TXNL4A_chr18_79965813_79993563 | 79969387 | GAAAGAAA | G | downstream_gene_variant | MODIFIER | HG01928.hp1 HG02258.hp1 HG02615.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0004g0102 others(4): Show |
9 | 384 | 0.0234 | -7 | c.*42 others(18): Show |
TXNL4A | ENSG00000141759.15 | transcript | ENST00000269601.10 | protein_coding | 1425 | chr18 | TogoVar | |||||||
TXNRD1_chr12_104210779_104355307 | 104252661 | TTTATATA | T | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0002 | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0020 others(3): Show |
6 | 163 | 0.0368 | -7 | c.243 others(22): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104252690 | ATTTTTTT | A | intron_variant | MODIFIER | HG01952.hp2 HG02922.hp2 HG02976.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0193 others(4): Show |
7 | 117 | 0.0598 | -7 | c.243 others(24): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD2_chr22_19870522_19946818 | 19871907 | AGGTGGGG | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(31): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0004t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0074 a0001c0001t0001g0091 others(30): Show |
34 | 370 | 0.0919 | -7 | c.*39 others(18): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 3614 | chr22 | TogoVar | |||||||
TXNRD2_chr22_19870522_19946818 | 19882234 | CAGGCTGG | C | intron_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02257.hp2 others(3): Show |
a0004 | a0004c0007a0004c0009a0004c0010others(1): Show | a0004c0007t0002a0004c0009t0002a0004c0010t0002others(1): Show | a0004c0007t0002g0345 a0004c0007t0002g0346 a0004c0007t0002g0354 others(3): Show |
6 | 370 | 0.0162 | -7 | c.108 others(26): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 12/17 | chr22 | TogoVar | |||||||
TXNRD2_chr22_19870522_19946818 | 19909524 | ACACACAC | A | intron_variant | MODIFIER | HG01081.hp1 HG01256.hp2 HG01258.hp1 others(8): Show |
a0004a0005a0006 | a0004c0008a0004c0028a0005c0005others(1): Show | a0004c0008t0002a0004c0028t0002a0005c0005t0001others(1): Show | a0004c0008t0002g0184 a0004c0008t0002g0200 a0004c0008t0002g0215 others(7): Show |
11 | 370 | 0.0297 | -7 | c.662 others(24): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 8/17 | chr22 | TogoVar | |||||||
TYMS_chr18_652653_678578 | 659583 | AGTTGGAT | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01515.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 others(1): Show |
4 | 480 | 0.0083 | -7 | c.206 others(20): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 666920 | GAGATGGT | G | intron_variant | MODIFIER | HG00323.hp2 HG01358.hp1 HG01975.hp1 others(57): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(32): Show |
60 | 461 | 0.1302 | -7 | c.455 others(24): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
TYMS_chr18_652653_678578 | 667166 | GTGATGGT | G | intron_variant | MODIFIER | HG02809.hp2 HG03041.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0015 a0001c0001t0011g0068 |
3 | 480 | 0.0063 | -7 | c.455 others(24): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
TYROBP_chr19_35899403_35913295 | 35899557 | TAAAAAAA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(46): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0017 others(12): Show |
49 | 193 | 0.2539 | -7 | c.*50 others(18): Show |
TYROBP | ENSG00000011600.12 | transcript | ENST00000262629.9 | protein_coding | 4845 | chr19 | TogoVar | |||||||
TYSND1_chr10_70132981_70151700 | 70151259 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(61): Show |
a0001a0009 | a0001c0003a0001c0013a0009c0011 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(5): Show | a0001c0003t0001g0067 a0001c0003t0002g0005 a0001c0003t0002g0017 others(16): Show |
64 | 80 | 0.8000 | -7 | c.-46 others(18): Show |
TYSND1 | ENSG00000156521.14 | transcript | ENST00000287078.7 | protein_coding | 4560 | chr10 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72592160 | TAAAAAAA | T | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01257.hp2 others(15): Show |
a0001a0004a0007 | a0001c0002a0004c0005a0004c0010others(1): Show | a0001c0002t0001a0004c0005t0001a0004c0010t0001others(1): Show | a0001c0002t0001g0205 a0001c0002t0001g0208 a0004c0005t0001g0159 others(15): Show |
18 | 196 | 0.0918 | -7 | c.178 others(28): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 13/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72700155 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00558.hp2 others(86): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0007a0001c0018others(9): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 others(86): Show |
89 | 132 | 0.6742 | -7 | c.137 others(26): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 10/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72703019 | TATATATA | T | intron_variant | MODIFIER | HG01081.hp2 HG01258.hp1 NA18951.hp1 |
a0001a0004 | a0001c0001a0001c0002a0004c0025 | a0001c0001t0001a0001c0002t0001a0004c0025t0001 | a0001c0001t0001g0047 a0001c0002t0001g0243 a0004c0025t0001g0161 |
3 | 284 | 0.0106 | -7 | c.137 others(26): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 10/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72730643 | AAGAAGGG | A | intron_variant | MODIFIER | NA18946.hp1 NA18982.hp2 NA19000.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0206 a0001c0002t0001g0225 a0001c0002t0001g0236 others(1): Show |
4 | 284 | 0.0141 | -7 | c.108 others(26): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72811291 | GAAAGAAA | G | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00639.hp2 others(113): Show |
a0001a0004a0007others(2): Show | a0001c0001a0001c0007a0001c0018others(10): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(113): Show |
116 | 284 | 0.4085 | -7 | c.238 others(22): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 3/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72828598 | TAATATCA | T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp1 others(93): Show |
a0001a0002a0006others(2): Show | a0001c0002a0001c0006a0001c0007others(5): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0001others(5): Show | a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0205 others(93): Show |
96 | 284 | 0.3380 | -7 | c.-53 others(16): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 399 | chr7 | TogoVar | |||||||
TYW1_chr7_66991833_67244514 | 67002843 | CTTTTTCT | C | intron_variant | MODIFIER | HG02451.hp2 HG02615.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0035 others(3): Show |
6 | 362 | 0.0166 | -7 | c.273 others(24): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67073767 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01070.hp2 others(22): Show |
a0002a0011 | a0002c0003a0002c0004a0011c0009 | a0002c0003t0004a0002c0004t0002a0002c0004t0004others(1): Show | a0002c0003t0004g0172 a0002c0003t0004g0205 a0002c0003t0004g0206 others(22): Show |
25 | 179 | 0.1397 | -7 | c.127 others(26): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67132671 | TCTTTCCC | T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01069.hp1 others(71): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0021a0002c0003others(7): Show | a0001c0001t0001a0001c0021t0001a0002c0003t0002others(10): Show | a0001c0001t0001g0125 a0001c0001t0001g0208 a0001c0001t0001g0233 others(71): Show |
74 | 362 | 0.2044 | -7 | c.169 others(28): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67187052 | ATTTTTTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(63): Show |
a0001a0006a0009 | a0001c0001a0001c0002a0006c0019others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 others(63): Show |
66 | 96 | 0.6875 | -7 | c.180 others(26): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67240128 | CTTTTCTT | C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02451.hp1 others(7): Show |
a0004a0005a0010 | a0004c0006a0004c0011a0005c0010others(1): Show | a0004c0006t0005a0004c0011t0005a0005c0010t0005others(1): Show | a0004c0006t0005g0008 a0004c0006t0005g0107 a0004c0006t0005g0108 others(7): Show |
10 | 360 | 0.0278 | -7 | c.*16 others(18): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 615 | chr7 | TogoVar | |||||||
TYW3_chr1_74728152_74771677 | 74732597 | CGGGGGGG | C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG01074.hp2 others(37): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0151 others(21): Show |
40 | 52 | 0.7692 | -7 | c.-64 others(16): Show |
TYW3 | ENSG00000162623.16 | transcript | ENST00000370867.8 | protein_coding | 554 | chr1 | TogoVar | |||||||
U2SURP_chr3_142996570_143065725 | 143003677 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00621.hp1 others(113): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(108): Show |
116 | 181 | 0.6409 | -7 | c.45+ others(22): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UACA_chr15_70649554_70768558 | 70692016 | AACTATCT | A | intron_variant | MODIFIER | HG02922.hp2 HG03195.hp2 HG03486.hp1 others(3): Show |
a0001a0009 | a0001c0008a0009c0022 | a0001c0008t0006a0001c0008t0010a0009c0022t0018 | a0001c0008t0006g0001 a0001c0008t0006g0262 a0001c0008t0010g0125 others(1): Show |
6 | 308 | 0.0195 | -7 | c.302 others(22): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 3/18 | chr15 | TogoVar | |||||||
UAP1L1_chr9_137072517_137089538 | 137085367 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(46): Show |
293 | 322 | 0.9099 | -7 | c.*26 others(18): Show |
UAP1L1 | ENSG00000197355.11 | transcript | ENST00000409858.8 | protein_coding | 830 | chr9 | TogoVar | |||||||
UBA1_chrX_47188829_47220128 | 47208619 | ATTTTTTT | A | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 HG02809.hp1 others(3): Show |
a0001a0008 | a0001c0001a0001c0008a0008c0011 | a0001c0001t0001a0001c0008t0001a0008c0011t0001 | a0001c0001t0001g0027 a0001c0001t0001g0106 a0001c0008t0001g0046 others(2): Show |
6 | 142 | 0.0423 | -7 | c.193 others(24): Show |
UBA1 | ENSG00000130985.17 | transcript | ENST00000335972.11 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34458558 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00639.hp1 others(87): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0013a0001c0001t0015others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0113 a0001c0001t0001g0114 others(78): Show |
90 | 95 | 0.9474 | -7 | c.124 others(24): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34461811 | AAAACTAG | A | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01071.hp2 others(16): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0012a0001c0006t0003 | a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0012 others(11): Show |
19 | 318 | 0.0597 | -7 | c.149 others(26): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA6_chr4_67607652_67706155 | 67703256 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(46): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0003a0001c0002t0008a0001c0002t0016others(7): Show | a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0003g0024 others(44): Show |
49 | 196 | 0.2500 | -7 | c.-21 others(18): Show |
UBA6 | ENSG00000033178.13 | transcript | ENST00000322244.10 | protein_coding | 2102 | chr4 | TogoVar | |||||||
UBAC2_chr13_99195854_99391504 | 99281810 | CTTATGGA | C | intron_variant | MODIFIER | HG02895.hp2 HG03579.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0311 |
3 | 378 | 0.0079 | -7 | c.390 others(26): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99338040 | TTTTTTTC | T | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG00735.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0022 a0001c0001t0001g0259 a0001c0001t0003g0093 others(8): Show |
11 | 378 | 0.0291 | -7 | c.562 others(24): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBALD2_chr17_76260348_76276298 | 76267490 | CTTTTTTT | C | intron_variant | MODIFIER | HG00621.hp2 HG02257.hp2 HG03239.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0007 a0001c0001t0002g0007 a0001c0002t0002g0007 others(2): Show |
11 | 189 | 0.0582 | -7 | c.183 others(24): Show |
UBALD2 | ENSG00000185262.9 | transcript | ENST00000327490.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |