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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TRPM8_chr2_233912373_234024522 | 233927831 | CCTTCCTT others(43): Show |
C | intron_variant | MODIFIER | HG02132.hp1 NA18968.hp1 NA19088.hp2 |
a0003a0007a0015 | a0003c0005a0007c0018a0015c0020 | a0003c0005t0003a0007c0018t0039a0015c0020t0020 | a0003c0005t0003g0305 a0007c0018t0039g0164 a0015c0020t0020g0157 |
3 | 308 | 0.0097 | -50 | c.117 others(67): Show |
TRPM8 | ENSG00000144481.17 | transcript | ENST00000324695.9 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRPM8_chr2_233912373_234024522 | 233927835 | CCTTCCTT others(43): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01071.hp2 HG01109.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0005a0003c0011others(1): Show | a0001c0001t0003a0003c0005t0001a0003c0005t0002others(3): Show | a0001c0001t0003g0171 a0003c0005t0001g0166 a0003c0005t0001g0167 others(5): Show |
8 | 310 | 0.0258 | -50 | c.117 others(67): Show |
TRPM8 | ENSG00000144481.17 | transcript | ENST00000324695.9 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRPM8_chr2_233912373_234024522 | 233927839 | CCTTCCTT others(43): Show |
C | intron_variant | MODIFIER | NA18612.hp1 NA19004.hp1 |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0152 a0003c0005t0002g0163 |
2 | 297 | 0.0067 | -50 | c.117 others(67): Show |
TRPM8 | ENSG00000144481.17 | transcript | ENST00000324695.9 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRPV6_chr7_142866208_142890745 | 142890654 | ACACACAC others(43): Show |
A | upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 264 | 0.0038 | -50 | c.-50 others(61): Show |
TRPV6 | ENSG00000165125.22 | transcript | ENST00000359396.9 | protein_coding | 4910 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar | ||||||
TSC2_chr16_2042985_2094491 | 2091243 | GCTGCCGG others(43): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01346.hp1 HG02735.hp2 others(2): Show |
a0001 | a0001c0008a0001c0014 | a0001c0008t0009a0001c0014t0009 | a0001c0008t0009g0030 a0001c0008t0009g0031 a0001c0008t0009g0034 others(2): Show |
5 | 316 | 0.0158 | -50 | c.*26 others(61): Show |
TSC2 | ENSG00000103197.19 | transcript | ENST00000219476.9 | protein_coding | 1753 | chr16 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142326442 | CGAACCAG others(43): Show |
C | intron_variant | MODIFIER | HG01975.hp1 NA20300.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0142 a0002c0002t0001g0143 |
2 | 235 | 0.0085 | -50 | c.893 others(67): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 6/13 | chr8 | TogoVar | |||||||
TSPAN10_chr17_81632196_81653749 | 81652803 | ATCCTAGG others(43): Show |
A | downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -50 | c.*45 others(61): Show |
TSPAN10 | ENSG00000182612.11 | transcript | ENST00000611590.2 | protein_coding | 4055 | chr17 | TogoVar | |||||||
TSPAN4_chr11_837852_872111 | 859434 | CGGCTCAC others(43): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 322 | 0.0031 | -50 | c.64- others(65): Show |
TSPAN4 | ENSG00000214063.12 | transcript | ENST00000397397.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TSPAN9_chr12_3072379_3291559 | 3226710 | GTGTATGT others(43): Show |
G | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0107 | a0001c0001t0107g0212 | 1 | 285 | 0.0035 | -50 | c.63+ others(67): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TSPAN9_chr12_3072379_3291559 | 3226712 | GTATGTAT others(43): Show |
G | intron_variant | MODIFIER | HG03239.hp1 HG04115.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0042a0001c0002t0098 | a0001c0001t0042g0124 a0001c0002t0098g0198 |
2 | 255 | 0.0078 | -50 | c.63+ others(67): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TSPAN9_chr12_3072379_3291559 | 3226716 | GTATGTGT others(43): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01123.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008 | a0001c0001t0001g0209 a0001c0001t0007g0135 a0001c0001t0007g0208 others(1): Show |
4 | 275 | 0.0145 | -50 | c.63+ others(67): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TSPAN9_chr12_3072379_3291559 | 3226720 | GTGTGTGT others(43): Show |
G | intron_variant | MODIFIER | HG01952.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0048 | a0001c0001t0016g0273 a0001c0001t0048g0068 |
2 | 286 | 0.0070 | -50 | c.63+ others(67): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TTC21B_chr2_165868362_165958776 | 165927122 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 406 | 0.0025 | -50 | c.138 others(69): Show |
TTC21B | ENSG00000123607.16 | transcript | ENST00000243344.8 | protein_coding | 11/28 | chr2 | TogoVar | |||||||
TTC27_chr2_32623050_32826051 | 32754777 | CCTCCCCC others(43): Show |
C | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 | 1 | 322 | 0.0031 | -50 | c.145 others(69): Show |
TTC27 | ENSG00000018699.13 | transcript | ENST00000317907.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TTC27_chr2_32623050_32826051 | 32754828 | CCCCCCCC others(43): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02273.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0013 a0001c0002t0001g0114 |
2 | 322 | 0.0062 | -50 | c.145 others(69): Show |
TTC27 | ENSG00000018699.13 | transcript | ENST00000317907.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TTC39C_chr18_24009754_24140600 | 24023933 | CATATATA others(43): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01109.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0014others(3): Show | a0001c0001t0004g0011 a0001c0001t0008g0109 a0001c0001t0014g0098 others(3): Show |
6 | 298 | 0.0201 | -50 | c.167 others(67): Show |
TTC39C | ENSG00000168234.13 | transcript | ENST00000317571.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TTLL11_chr9_121810674_122098308 | 121826487 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 172 | 0.0058 | -50 | c.184 others(69): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 8/8 | chr9 | TogoVar | |||||||
TTLL11_chr9_121810674_122098308 | 121971394 | TGGGGGGG others(43): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0002 | a0003c0002t0004 | a0003c0002t0004g0164 | 1 | 144 | 0.0069 | -50 | c.148 others(69): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
TUSC3_chr8_15535263_15771638 | 15639260 | CGATGCTA others(43): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0157 | 1 | 370 | 0.0027 | -50 | c.309 others(69): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TXLNB_chr6_139235061_139296998 | 139288932 | AGGCTTTA others(43): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0132 | 1 | 292 | 0.0034 | -50 | c.-14 others(63): Show |
TXLNB | ENSG00000164440.15 | transcript | ENST00000358430.8 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52529676 | ATATATAT others(43): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 NA18957.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0055 a0002c0003t0005g0056 a0002c0003t0005g0061 others(2): Show |
5 | 230 | 0.0217 | -50 | c.392 others(67): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
TXNL4A_chr18_79965813_79993563 | 79991891 | GGTGGTCG others(43): Show |
G | upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0014 | 1 | 388 | 0.0026 | -50 | c.-35 others(61): Show |
TXNL4A | ENSG00000141759.15 | transcript | ENST00000269601.10 | protein_coding | 3329 | chr18 | TogoVar | |||||||
TXNRD1_chr12_104210779_104355307 | 104323585 | ACCCCCAC others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(111): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(111): Show |
114 | 300 | 0.3800 | -50 | c.121 others(69): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67184613 | TTTTATTT others(43): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01070.hp2 others(6): Show |
a0002a0010 | a0002c0004a0010c0020 | a0002c0004t0002a0002c0004t0004a0010c0020t0008 | a0002c0004t0002g0283 a0002c0004t0004g0288 a0002c0004t0004g0290 others(6): Show |
9 | 299 | 0.0301 | -50 | c.180 others(69): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
U2SURP_chr3_142996570_143065725 | 143047569 | GGGGGGCT others(43): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0235 | 1 | 376 | 0.0027 | -50 | c.254 others(69): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UBE2Z_chr17_48903407_48934056 | 48933862 | TTCCAACA others(43): Show |
T | downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 328 | 0.0030 | -50 | c.*67 others(61): Show |
UBE2Z | ENSG00000159202.18 | transcript | ENST00000360943.10 | protein_coding | 4807 | chr17 | TogoVar | |||||||
UBE4A_chr11_118354600_118404211 | 118355430 | CGTATATG others(43): Show |
C | upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 318 | 0.0031 | -50 | c.-42 others(61): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 4169 | chr11 | TogoVar | |||||||
UBE4A_chr11_118354600_118404211 | 118355540 | CATATGTA others(43): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG01106.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015 | a0001c0001t0005g0213 a0001c0001t0005g0215 a0001c0001t0005g0216 others(4): Show |
7 | 318 | 0.0220 | -50 | c.-41 others(61): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 4059 | chr11 | TogoVar | |||||||
UBL3_chr13_29759371_29855617 | 29835089 | AATATATA others(43): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0250 | 1 | 292 | 0.0034 | -50 | c.27+ others(67): Show |
UBL3 | ENSG00000122042.10 | transcript | ENST00000380680.5 | protein_coding | 1/4 | chr13 | TogoVar | |||||||
UBTD1_chr10_97493924_97576206 | 97528627 | ACCCCCAC others(43): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(271): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(268): Show |
274 | 302 | 0.9073 | -50 | c.70+ others(67): Show |
UBTD1 | ENSG00000165886.5 | transcript | ENST00000370664.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UGT2B4_chr4_69475165_69500905 | 69497564 | AAAGATAA others(43): Show |
A | upstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 434 | 0.0023 | -50 | c.-17 others(61): Show |
UGT2B4 | ENSG00000156096.15 | transcript | ENST00000305107.7 | protein_coding | 1660 | chr4 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41856540 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG04184.hp2 |
a0003a0016 | a0003c0003a0016c0015 | a0003c0003t0001a0016c0015t0001 | a0003c0003t0001g0061 a0016c0015t0001g0005 |
2 | 70 | 0.0286 | -50 | c.165 others(71): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 17/36 | chr3 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42078147 | AGGGCCAG others(43): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00597.hp1 others(90): Show |
a0001a0002a0003others(44): Show | a0001c0001a0001c0008a0001c0020others(55): Show | a0001c0001t0004a0001c0008t0001a0001c0020t0001others(64): Show | a0001c0001t0004g0068 a0001c0008t0001g0211 a0001c0020t0001g0029 others(88): Show |
93 | 390 | 0.2385 | -50 | c.319 others(67): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42078147 | AGGGCCAG others(43): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0113 | 1 | 298 | 0.0034 | -50 | c.319 others(72): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | chr21 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42078235 | TAGAAACC others(43): Show |
T | intron_variant | MODIFIER | NA19056.hp2 | a0024 | a0024c0183 | a0024c0183t0001 | a0024c0183t0001g0173 | 1 | 305 | 0.0033 | -50 | c.319 others(67): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42078297 | GGGGCCAG others(43): Show |
G | intron_variant | MODIFIER | NA18941.hp2 NA19087.hp1 |
a0002a0053 | a0002c0005a0053c0065 | a0002c0005t0001a0053c0065t0001 | a0002c0005t0001g0148 a0053c0065t0001g0007 |
2 | 394 | 0.0051 | -50 | c.319 others(67): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42078347 | CGGGCCAG others(43): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0016 | a0016c0032 | a0016c0032t0005 | a0016c0032t0005g0088 a0016c0032t0005g0089 |
2 | 259 | 0.0077 | -50 | c.319 others(67): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42078446 | CGGGGCCA others(43): Show |
C | intron_variant | MODIFIER | NA18943.hp2 NA18955.hp2 NA18960.hp2 others(4): Show |
a0001a0003a0005others(1): Show | a0001c0119a0003c0046a0005c0013others(1): Show | a0001c0119t0001a0003c0046t0007a0005c0013t0001others(1): Show | a0001c0119t0001g0335 a0003c0046t0007g0336 a0005c0013t0001g0006 others(3): Show |
7 | 397 | 0.0176 | -50 | c.319 others(67): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42078585 | TAGAAACC others(43): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02129.hp2 |
a0004a0008 | a0004c0007a0008c0012 | a0004c0007t0002a0008c0012t0004 | a0004c0007t0002g0203 a0008c0012t0004g0155 |
2 | 346 | 0.0058 | -50 | c.319 others(67): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42078697 | GGGGCCAG others(43): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02896.hp1 others(1): Show |
a0013a0027 | a0013c0029a0027c0039 | a0013c0029t0001a0027c0039t0018 | a0013c0029t0001g0380 a0013c0029t0001g0381 a0013c0029t0001g0382 others(1): Show |
4 | 240 | 0.0167 | -50 | c.319 others(67): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMPS_chr3_124725452_124754273 | 124750364 | TGGGGCGG others(43): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(83): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0002c0002t0002a0002c0002t0009others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0038 a0002c0002t0002g0003 others(37): Show |
86 | 432 | 0.1991 | -50 | c.*62 others(61): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 1092 | chr3 | TogoVar | |||||||
UNC13C_chr15_53973441_54633605 | 54552401 | TATATAAT others(43): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(124): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(88): Show | a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0002g0067 others(124): Show |
127 | 144 | 0.8819 | -50 | c.587 others(69): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 28/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC5B_chr10_71207570_71307864 | 71296712 | GATATTCC others(43): Show |
G | frameshift_variant others(3): Show |
HIGH | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 366 | 0.0027 | -50 | c.247 others(62): Show |
p.His others(5): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 15/17 | 2891/6841 | 2475/2838 | 825/945 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
UNC5B_chr10_71207570_71307864 | 71296733 | TCTGGCAG others(43): Show |
T | frameshift_variant others(3): Show |
HIGH | HG01981.hp2 HG02273.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0049 | a0001c0002t0002g0121 a0001c0002t0049g0086 |
2 | 361 | 0.0055 | -50 | c.248 others(62): Show |
p.Glu others(5): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 15/17 | 2903/6841 | 2487/2838 | 829/945 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
UNC5B_chr10_71207570_71307864 | 71296739 | AGAGGTGA others(43): Show |
A | intron_variant | MODIFIER | HG02015.hp2 NA19054.hp2 |
a0001a0005 | a0001c0028a0005c0011 | a0001c0028t0004a0005c0011t0023 | a0001c0028t0004g0286 a0005c0011t0023g0101 |
2 | 360 | 0.0056 | -50 | c.249 others(65): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UNC5B_chr10_71207570_71307864 | 71296762 | CATATTCC others(43): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG02055.hp2 HG02559.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0013a0001c0001t0014a0001c0002t0002others(4): Show | a0001c0001t0013g0234 a0001c0001t0014g0029 a0001c0002t0002g0102 others(5): Show |
8 | 348 | 0.0230 | -50 | c.249 others(65): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UNC5B_chr10_71207570_71307864 | 71296783 | ACTGGCGG others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00558.hp1 others(76): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(44): Show | a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0072 others(74): Show |
79 | 315 | 0.2508 | -50 | c.249 others(67): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93576966 | TGAGACCT others(43): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00673.hp2 others(29): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0020others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0020t0001others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0030 others(29): Show |
32 | 192 | 0.1667 | -50 | c.221 others(67): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 17/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UPF1_chr19_18826959_18873230 | 18829592 | CATATATA others(43): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02818.hp2 NA20129.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0176 a0001c0003t0004g0179 a0001c0003t0004g0180 |
3 | 373 | 0.0080 | -50 | c.-26 others(61): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 2366 | chr19 | TogoVar | |||||||
USP13_chr3_179648040_179794401 | 179727982 | CCCACCTC others(43): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02486.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0260 a0001c0001t0003g0026 a0001c0001t0004g0261 others(2): Show |
5 | 298 | 0.0168 | -50 | c.108 others(69): Show |
USP13 | ENSG00000058056.10 | transcript | ENST00000263966.8 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |