| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BECN2_chr1_241952767_241964062 | 241959206 | TGGCTAAT others(2172): Show |
T | downstream_gene_variant | MODIFIER | HG02132.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 442 | 0.0045 | -2179 | c.*14 others(10): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 145 | chr1 | TogoVar | |||||||
| OR7G1_chr19_9109828_9120763 | 9112268 | GCATGCCT others(2170): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00738.hp2 others(26): Show |
a0004a0006a0009others(3): Show | a0004c0004a0006c0007a0009c0013others(3): Show | a0004c0004t0001a0006c0007t0001a0009c0013t0001others(3): Show | a0004c0004t0001g0000 a0006c0007t0001g0000 a0009c0013t0001g0000 others(3): Show |
29 | 408 | 0.0711 | -2177 | c.*38 others(10): Show |
OR7G1 | ENSG00000161807.3 | transcript | ENST00000541538.1 | protein_coding | 2559 | chr19 | TogoVar | |||||||
| BRSK2_chr11_1384934_1467689 | 1429738 | CGGTCTGG others(2167): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0176 | 1 | 358 | 0.0028 | -2174 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| CYP3A43_chr7_99823013_99871093 | 99863766 | AAAAATTA others(2166): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG01109.hp2 HG01243.hp1 HG01884.hp2 others(25): Show |
a0002a0003a0006 | a0002c0010a0002c0011a0002c0014others(3): Show | a0002c0010t0001a0002c0011t0001a0002c0014t0001others(3): Show | a0002c0010t0001g0036 a0002c0010t0001g0171 a0002c0011t0001g0037 others(13): Show |
28 | 324 | 0.0864 | -2173 | c.141 others(12): Show |
p.Ile others(13): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 13/13 | 1417/1512 | 473/503 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||
| DLGAP2_chr8_732628_1713476 | 1405216 | GTGTATTG others(2166): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0007 | 1 | 40 | 0.0250 | -2173 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| SMAD9_chr13_36839831_36925238 | 36900383 | TGATTCTC others(2166): Show |
T | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 297 | 0.0034 | -2173 | c.-18 others(21): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805559 | CTCCCCCC others(2165): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0088 | 1 | 293 | 0.0034 | -2172 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1273 | chr2 | TogoVar | |||||||
| CAND1_chr12_67264358_67324953 | 67276938 | CATTCCAT others(2164): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0097 | 1 | 326 | 0.0031 | -2171 | c.69- others(15): Show |
CAND1 | ENSG00000111530.13 | transcript | ENST00000545606.6 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
| RGPD3_chr2_106398406_106473413 | 106403070 | ATTAATGA others(2163): Show |
A | exon_loss_variant others(5): Show |
HIGH | NA18980.hp1 | a0037 | a0037c0037 | a0037c0037t0006 | a0037c0037t0006g0053 | 1 | 380 | 0.0026 | -2170 | c.526 others(13): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 23/23 | chr2 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805291 | TCCCCCCT others(2159): Show |
T | downstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0074 | 1 | 262 | 0.0038 | -2166 | c.*11 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1005 | chr2 | TogoVar | |||||||
| ALDOA_chr16_30060760_30075414 | 30072078 | GGAGGCAG others(2158): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 2 | 368 | 0.0054 | -2165 | c.*18 others(11): Show |
ALDOA | ENSG00000149925.22 | transcript | ENST00000642816.3 | protein_coding | 1665 | chr16 | TogoVar | |||||||
| LOC112694756_chr16_30048151_30075414 | 30072078 | GGAGGCAG others(2158): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 a0001c0001t0001g0124 |
2 | 330 | 0.0061 | -2165 | c.*34 others(11): Show |
LOC112694756 | ENSG00000285043.3 | transcript | ENST00000338110.11 | protein_coding | 1665 | chr16 | TogoVar | |||||||
| PPP4C_chr16_30070994_30090376 | 30072078 | GGAGGCAG others(2158): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 a0001c0001t0002g0084 |
2 | 366 | 0.0055 | -2165 | c.-40 others(11): Show |
PPP4C | ENSG00000149923.14 | transcript | ENST00000279387.12 | protein_coding | 3915 | chr16 | TogoVar | |||||||
| WDR20_chr14_102134897_102215527 | 102171220 | AATTACAG others(2157): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 262 | 0.0038 | -2164 | c.250 others(19): Show |
WDR20 | ENSG00000140153.18 | transcript | ENST00000342702.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744930 | GGGGGTCG others(2156): Show |
G | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0303 | 1 | 323 | 0.0031 | -2163 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ZNF385D_chr3_21407218_21756210 | 21682212 | GTTTAGCT others(2155): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp2 HG02965.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0048a0001c0003t0004a0001c0003t0011 | a0001c0001t0048g0006 a0001c0003t0004g0050 a0001c0003t0011g0017 |
3 | 235 | 0.0128 | -2162 | c.23- others(17): Show |
ZNF385D | ENSG00000151789.13 | transcript | ENST00000281523.8 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
| P2RX5_chr17_3668227_3701155 | 3685658 | CCCAGCCT others(2153): Show |
C | intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0113 | 1 | 205 | 0.0049 | -2160 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
| PRAMEF5_chr1_13249198_13268435 | 13254878 | CCCAAAGT others(2153): Show |
C | intron_variant | MODIFIER | HG01517.hp2 HG02132.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0050 a0002c0002t0002g0051 |
2 | 142 | 0.0141 | -2160 | c.-23 others(16): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245974625 | GGCCCAGG others(2153): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0119 | 1 | 135 | 0.0074 | -2160 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
| P2RX5_chr17_3668227_3701155 | 3685659 | CCAGCCTG others(2152): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0132 | 1 | 219 | 0.0046 | -2159 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1237992 | TCCCCCCC others(2151): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0062 | 1 | 68 | 0.0147 | -2158 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| PRAMEF26_chr1_13143907_13161009 | 13155217 | AAAAAAAA others(2151): Show |
A | splice_donor_variant others(4): Show |
HIGH | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0035 | 1 | 228 | 0.0044 | -2158 | c.-15 others(13): Show |
PRAMEF26 | ENSG00000280267.7 | transcript | ENST00000624207.2 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
| FAM25A_chr10_87015294_87029730 | 87026070 | CTGTCTTG others(2150): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 442 | 0.0023 | -2157 | c.*13 others(11): Show |
FAM25A | ENSG00000188100.9 | transcript | ENST00000343959.5 | protein_coding | 1341 | chr10 | TogoVar | |||||||
| CCDC200_chr17_43216420_43233623 | 43231467 | CCGAGGGG others(2149): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0026 | 1 | 332 | 0.0030 | -2156 | c.-50 others(11): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 2845 | chr17 | TogoVar | |||||||
| DENND1B_chr1_197499748_197780480 | 197751769 | AGGAGGCG others(2149): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0268 | 1 | 278 | 0.0036 | -2156 | c.82+ others(17): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
| GRIP1_chr12_66342431_66684076 | 66398194 | CTGCCAAC others(2149): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG03486.hp1 NA20129.hp1 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0018 a0002c0002t0007g0088 a0002c0002t0007g0194 |
3 | 222 | 0.0135 | -2156 | c.198 others(19): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 16/24 | chr12 | TogoVar | |||||||
| PRAMEF25_chr1_13065774_13082884 | 13069405 | TTTTTTTT others(2149): Show |
T | splice_donor_variant others(4): Show |
HIGH | HG01070.hp2 HG02109.hp2 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0080 a0002c0002t0007g0081 |
2 | 156 | 0.0128 | -2156 | c.-15 others(13): Show |
PRAMEF25 | ENSG00000229571.7 | transcript | ENST00000619661.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| TRPC5_chrX_111763011_112087776 | 111943871 | GGTGGTGC others(2149): Show |
G | intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 159 | 0.0063 | -2156 | c.378 others(17): Show |
TRPC5 | ENSG00000072315.4 | transcript | ENST00000262839.3 | protein_coding | 2/10 | chrX | TogoVar | |||||||
| FAM107B_chr10_14513557_14779897 | 14710482 | TGTTTAAA others(2148): Show |
T | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 270 | 0.0037 | -2155 | c.412 others(19): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
| FBXO47_chr17_38931432_38972403 | 38939322 | AAATATAT others(2147): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 342 | 0.0029 | -2154 | c.108 others(18): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 9/10 | chr17 | TogoVar | |||||||
| KCNC2_chr12_75035078_75214839 | 75126511 | AATTATAA others(2147): Show |
A | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 314 | 0.0032 | -2154 | c.688 others(19): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
| FBXO47_chr17_38931432_38972403 | 38939323 | AATATATA others(2146): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 173 | 0.0058 | -2153 | c.108 others(18): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 9/10 | chr17 | TogoVar | |||||||
| SNTG2_chr2_945849_1372613 | 1343724 | TTTTCCCC others(2145): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0017 | a0017c0036 | a0017c0036t0001 | a0017c0036t0001g0070 | 1 | 188 | 0.0053 | -2152 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PRAMEF6_chr1_12933472_12952580 | 12944074 | AAGTCCTG others(2144): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show |
a0003a0016 | a0003c0003a0016c0018 | a0003c0003t0004a0016c0018t0004 | a0003c0003t0004g0006 a0003c0003t0004g0044 a0003c0003t0004g0045 others(1): Show |
6 | 90 | 0.0667 | -2151 | c.-23 others(17): Show |
PRAMEF6 | ENSG00000232423.6 | transcript | ENST00000376189.5 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
| KCNG4_chr16_84213657_84245012 | 84241102 | GGTGCCTG others(2143): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02572.hp1 |
a0001a0007 | a0001c0002a0007c0010 | a0001c0002t0007a0007c0010t0005 | a0001c0002t0007g0181 a0007c0010t0005g0208 |
2 | 470 | 0.0043 | -2150 | c.-36 others(11): Show |
KCNG4 | ENSG00000168418.8 | transcript | ENST00000308251.6 | protein_coding | 1091 | chr16 | TogoVar | |||||||
| LIMA1_chr12_50170788_50288520 | 50172807 | TGGCCTCC others(2143): Show |
T | downstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0148 a0001c0001t0004g0149 |
2 | 292 | 0.0068 | -2150 | c.*21 others(11): Show |
LIMA1 | ENSG00000050405.14 | transcript | ENST00000341247.9 | protein_coding | 2980 | chr12 | TogoVar | |||||||
| CSMD1_chr8_2930361_4999914 | 4652883 | TAAGAATC others(2142): Show |
T | intron_variant | MODIFIER | HG03540.hp2 NA18522.hp2 |
a0002a0031 | a0002c0072a0031c0113 | a0002c0072t0003a0031c0113t0013 | a0002c0072t0003g0066 a0031c0113t0013g0043 |
2 | 126 | 0.0159 | -2149 | c.86- others(17): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
| PLPP4_chr10_120452227_120597065 | 120467142 | AATCTCGG others(2142): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(253): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0001 a0001c0001t0001g0085 a0001c0001t0001g0086 others(252): Show |
256 | 326 | 0.7853 | -2149 | c.56+ others(16): Show |
PLPP4 | ENSG00000203805.11 | transcript | ENST00000398250.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| PLPP4_chr10_120452227_120597065 | 120467165 | GCCTCCCA others(2142): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0249 | 1 | 326 | 0.0031 | -2149 | c.56+ others(16): Show |
PLPP4 | ENSG00000203805.11 | transcript | ENST00000398250.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| KDM4B_chr19_4964113_5158598 | 4974059 | CCACTGCA others(2141): Show |
C | intron_variant | MODIFIER | NA18944.hp2 NA18954.hp1 |
a0001a0005 | a0001c0001a0005c0033 | a0001c0001t0001a0005c0033t0001 | a0001c0001t0001g0183 a0005c0033t0001g0182 |
2 | 268 | 0.0075 | -2148 | c.-10 others(19): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| NTSR1_chr20_62703836_62767771 | 62741271 | GGCTTCTG others(2141): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG01109.hp1 HG01167.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0094 others(41): Show |
47 | 314 | 0.1497 | -2148 | c.715 others(19): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| PRAMEF5_chr1_13249198_13268435 | 13255550 | ATCTCACA others(2139): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show |
a0008 | a0008c0009 | a0008c0009t0006 | a0008c0009t0006g0053 a0008c0009t0006g0054 a0008c0009t0006g0055 others(1): Show |
4 | 142 | 0.0282 | -2146 | c.-23 others(17): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRAMEF5_chr1_13249198_13268435 | 13255470 | GTGGCCGA others(2137): Show |
G | intron_variant | MODIFIER | HG01106.hp2 | a0014 | a0014c0014 | a0014c0014t0006 | a0014c0014t0006g0057 | 1 | 142 | 0.0070 | -2144 | c.-23 others(17): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 253850 | CGTCTGTC others(2137): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0095 | 1 | 118 | 0.0085 | -2144 | c.439 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
| BCL7A_chr12_122016884_122067044 | 122045131 | AGCACTTT others(2136): Show |
A | intron_variant | MODIFIER | HG02698.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0020 | a0001c0001t0014g0258 a0001c0001t0020g0184 |
2 | 360 | 0.0056 | -2143 | c.439 others(17): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| TMED8_chr14_77330029_77382094 | 77349370 | TGCCTCCC others(2136): Show |
T | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 326 | 0.0031 | -2143 | c.197 others(16): Show |
TMED8 | ENSG00000100580.8 | transcript | ENST00000216468.8 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
| FGF12_chr3_192134390_192732541 | 192672100 | CTTCTATA others(2135): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0066 | 1 | 90 | 0.0111 | -2142 | c.13+ others(17): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
| NOTCH4_chr6_32189843_32229067 | 32205125 | GTGCAAGA others(2135): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG02132.hp2 NA18946.hp1 others(12): Show |
a0007 | a0007c0008a0007c0068 | a0007c0008t0001a0007c0068t0001 | a0007c0008t0001g0032 a0007c0008t0001g0033 a0007c0008t0001g0259 others(8): Show |
15 | 436 | 0.0344 | -2142 | c.286 others(18): Show |
NOTCH4 | ENSG00000204301.6 | transcript | ENST00000375023.3 | protein_coding | 18/29 | chr6 | TogoVar | |||||||
| ASMT_chrX_1610059_1648081 | 1637186 | GTCCTGTG others(2132): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG03239.hp1 HG03831.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0024 a0002c0002t0001g0015 a0002c0002t0001g0042 others(1): Show |
4 | 214 | 0.0187 | -2139 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| TRAF6_chr11_36478769_36515272 | 36484987 | TTCCCCCA others(2132): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0041 | a0001c0001t0038g0272 a0001c0001t0041g0208 |
2 | 386 | 0.0052 | -2139 | c.*27 others(11): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 7/7 | 2712 | chr11 | TogoVar |