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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNJ6_chr21_37602373_37921457 | 37685517 | T | TAAAAATA others(309): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02895.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0167a0001c0001t0190 | a0001c0001t0027g0048 a0001c0001t0167g0015 a0001c0001t0190g0198 |
3 | 198 | 0.0152 | 316 | c.946 others(335): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37685517 | T | TAAAAATA others(309): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0020a0001c0001t0021others(5): Show | a0001c0001t0001g0132 a0001c0001t0020g0023 a0001c0001t0021g0143 others(5): Show |
8 | 198 | 0.0404 | 316 | c.946 others(335): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37685517 | T | TAAAAATA others(309): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0159 | a0001c0002t0159g0058 | 1 | 198 | 0.0051 | 316 | c.946 others(335): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37685523 | T | TACAAAAA others(309): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0019a0001c0001t0060a0001c0001t0061others(26): Show | a0001c0001t0019g0032 a0001c0001t0060g0113 a0001c0001t0061g0172 others(28): Show |
31 | 198 | 0.1566 | 316 | c.946 others(335): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758039 | T | TATATATA others(309): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 232 | 0.0043 | 316 | c.-67 others(335): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758039 | T | TATATATA others(309): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 232 | 0.0043 | 316 | c.-67 others(335): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758709 | G | GATATATA others(309): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0203 | 1 | 232 | 0.0043 | 316 | c.-67 others(335): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCTD16_chr5_144165873_144490686 | 144448067 | T | TAACAAGC others(309): Show |
intron_variant | MODIFIER | HG02922.hp1 NA18906.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0029a0001c0002t0005 | a0001c0001t0029g0150 a0001c0002t0005g0084 a0001c0002t0005g0098 |
3 | 156 | 0.0192 | 316 | c.833 others(335): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6991435 | T | TAAAAATC others(309): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0201 | 1 | 266 | 0.0038 | 316 | c.178 others(333): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM6A_chrX_44868188_45117779 | 45048879 | A | ACTCAAGT others(309): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 199 | 0.0050 | 316 | c.655 others(333): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDSR_chr18_63322726_63372206 | 63341118 | T | TAAATATG others(309): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 406 | 0.0025 | 316 | c.694 others(333): Show |
KDSR | ENSG00000119537.18 | transcript | ENST00000645214.2 | protein_coding | 7/9 | chr18 | TogoVar | |||||||
KIAA0753_chr17_6573147_6645711 | 6635337 | T | TAAAAGCA others(309): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0165 | 1 | 370 | 0.0027 | 316 | c.-68 others(331): Show |
KIAA0753 | ENSG00000198920.11 | transcript | ENST00000361413.8 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
KIAA0825_chr5_94145851_94623604 | 94608454 | T | TATATATA others(309): Show |
intron_variant | MODIFIER | HG02083.hp2 HG03688.hp2 NA19002.hp2 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0006a0001c0001t0016a0005c0009t0012 | a0001c0001t0006g0050 a0001c0001t0016g0051 a0005c0009t0012g0053 |
3 | 54 | 0.0556 | 316 | c.-15 others(337): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
KIAA0825_chr5_94145851_94623604 | 94608474 | A | ATATTATA others(309): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0003 | 1 | 54 | 0.0185 | 316 | c.-15 others(337): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
KIAA0825_chr5_94145851_94623604 | 94608474 | A | ATATTATA others(309): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0003 | a0002c0003t0030 | a0002c0003t0030g0036 | 1 | 54 | 0.0185 | 316 | c.-15 others(337): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
KIAA0825_chr5_94145851_94623604 | 94608474 | A | ATATTATA others(309): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0010a0001c0005t0027 | a0001c0001t0010g0001 a0001c0005t0027g0002 |
2 | 54 | 0.0370 | 316 | c.-15 others(337): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45229170 | C | CAACCACC others(309): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0348 | 1 | 398 | 0.0025 | 316 | c.64+ others(333): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIF14_chr1_200546500_200625751 | 200607057 | T | TAAAAAAC others(309): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG02735.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0044 | a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0013g0322 others(1): Show |
4 | 390 | 0.0103 | 316 | c.155 others(333): Show |
KIF14 | ENSG00000118193.12 | transcript | ENST00000367350.5 | protein_coding | 5/29 | chr1 | TogoVar | |||||||
KIF14_chr1_200546500_200625751 | 200607057 | T | TAAAAAAC others(309): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02970.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0011 a0001c0001t0019g0246 |
3 | 390 | 0.0077 | 316 | c.155 others(333): Show |
KIF14 | ENSG00000118193.12 | transcript | ENST00000367350.5 | protein_coding | 5/29 | chr1 | TogoVar | |||||||
KIF16B_chr20_16267104_16578448 | 16288498 | G | GTGATAAG others(309): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 | 1 | 250 | 0.0040 | 316 | c.379 others(337): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 25/25 | chr20 | TogoVar | |||||||
KIF16B_chr20_16267104_16578448 | 16288814 | G | GTGATAAG others(309): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02280.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0013others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0013t0002others(3): Show | a0001c0001t0002g0066 a0001c0001t0002g0086 a0001c0001t0002g0096 others(9): Show |
12 | 250 | 0.0480 | 316 | c.379 others(337): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 25/25 | chr20 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997385 | G | GGCGGGGG others(309): Show |
upstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0143 | 1 | 375 | 0.0027 | 316 | c.-20 others(327): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 285 | chr6 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 168035444 | A | AGGCGGGG others(309): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0065 | 1 | 375 | 0.0027 | 316 | c.317 others(333): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KLHL18_chr3_47277944_47351816 | 47316707 | G | GTATGTGT others(309): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02602.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0221 |
3 | 338 | 0.0089 | 316 | c.130 others(333): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL18_chr3_47277944_47351816 | 47316707 | G | GTATGTGT others(309): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01515.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0198 others(4): Show |
7 | 338 | 0.0207 | 316 | c.130 others(333): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL23_chr2_169728832_169756878 | 169750102 | A | ATATACGT others(309): Show |
3_prime_UTR_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0092 | a0001c0001t0092g0229 | 1 | 400 | 0.0025 | 316 | c.*37 others(325): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 4/4 | 371 | chr2 | TogoVar | ||||||
KLHL23_chr2_169728832_169756878 | 169750102 | A | ATATACGT others(309): Show |
3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG01175.hp1 HG02148.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0085a0001c0001t0095 | a0001c0001t0020g0001 a0001c0001t0020g0025 a0001c0001t0020g0032 others(3): Show |
6 | 400 | 0.0150 | 316 | c.*37 others(325): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 4/4 | 371 | chr2 | TogoVar | ||||||
KLHL23_chr2_169728832_169756878 | 169750102 | A | ATATACGT others(309): Show |
3_prime_UTR_variant | MODIFIER | HG01975.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0032 a0001c0001t0043g0033 |
2 | 400 | 0.0050 | 316 | c.*37 others(325): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 4/4 | 371 | chr2 | TogoVar | ||||||
KLHL41_chr2_169504702_169531258 | 169523993 | T | TAGACCCT others(309): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 422 | 0.0024 | 316 | c.171 others(335): Show |
KLHL41 | ENSG00000239474.7 | transcript | ENST00000284669.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KNSTRN_chr15_40377721_40399288 | 40380648 | G | GCCATTTT others(309): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01516.hp2 others(10): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0005 | a0002c0002t0001a0003c0003t0001a0005c0005t0001 | a0002c0002t0001g0006 a0002c0002t0001g0031 a0003c0003t0001g0006 others(1): Show |
13 | 374 | 0.0348 | 316 | c.-21 others(327): Show |
KNSTRN | ENSG00000128944.14 | transcript | ENST00000249776.13 | protein_coding | 2072 | chr15 | TogoVar | |||||||
KRT81_chr12_52280913_52296534 | 52291701 | T | TAAAAGAT others(309): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG02257.hp2 HG02486.hp2 others(6): Show |
a0003 | a0003c0004a0003c0037 | a0003c0004t0001a0003c0037t0001 | a0003c0004t0001g0004 a0003c0004t0001g0011 a0003c0037t0001g0087 |
9 | 454 | 0.0198 | 316 | c.-23 others(325): Show |
KRT81 | ENSG00000205426.11 | transcript | ENST00000327741.9 | protein_coding | 168 | chr12 | TogoVar | |||||||
KRT86_chr12_52269645_52314163 | 52291701 | T | TAAAAGAT others(309): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02257.hp2 HG02486.hp1 others(6): Show |
a0001a0007 | a0001c0002a0007c0019 | a0001c0002t0003a0007c0019t0003 | a0001c0002t0003g0149 a0001c0002t0003g0229 a0001c0002t0003g0230 others(6): Show |
9 | 414 | 0.0217 | 316 | c.-4- others(333): Show |
KRT86 | ENSG00000170442.12 | transcript | ENST00000423955.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62192159 | T | TAATTTTT others(309): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0015 | a0015c0021 | a0015c0021t0011 | a0015c0021t0011g0357 | 1 | 414 | 0.0024 | 316 | c.-29 others(327): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2689 | chr1 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129507083 | T | TAGAAATT others(309): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0003 | a0003c0061 | a0003c0061t0003 | a0003c0061t0003g0045 | 1 | 88 | 0.0114 | 316 | c.870 others(333): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 61/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174471 | T | TATATATA others(309): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01981.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0229 a0002c0002t0002g0247 |
2 | 284 | 0.0070 | 316 | c.126 others(333): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LEPR_chr1_65415668_65646559 | 65590243 | T | TAAAATTA others(309): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02922.hp1 |
a0003 | a0003c0011a0003c0014 | a0003c0011t0026a0003c0014t0047 | a0003c0011t0026g0105 a0003c0014t0047g0190 |
2 | 216 | 0.0093 | 316 | c.495 others(333): Show |
LEPR | ENSG00000116678.20 | transcript | ENST00000349533.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471560 | A | ATATATTT others(309): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0052 | 1 | 260 | 0.0039 | 316 | c.125 others(333): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471567 | T | TTTATATA others(309): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 260 | 0.0039 | 316 | c.125 others(333): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507611 | C | CAGGATTT others(309): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 260 | 0.0039 | 316 | c.624 others(333): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LINGO1_chr15_77608027_77637912 | 77620235 | T | TAAAAATT others(309): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0182 | 1 | 386 | 0.0026 | 316 | c.7-4 others(329): Show |
LINGO1 | ENSG00000169783.13 | transcript | ENST00000355300.7 | protein_coding | 1/1 | chr15 | TogoVar | |||||||
LIPH_chr3_185501262_185557588 | 185544949 | T | TTCTGTTG others(309): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0006 | 1 | 358 | 0.0028 | 316 | c.49+ others(331): Show |
LIPH | ENSG00000163898.10 | transcript | ENST00000296252.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
LMBRD1_chr6_69669010_69802010 | 69739487 | T | TAAAAAGG others(309): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0059 | 1 | 348 | 0.0029 | 316 | c.563 others(333): Show |
LMBRD1 | ENSG00000168216.13 | transcript | ENST00000649934.3 | protein_coding | 6/15 | chr6 | TogoVar | |||||||
LMLN_chr3_197955217_198048720 | 198004562 | C | CATCTATC others(309): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0003 | a0003c0004 | a0003c0004t0050 | a0003c0004t0050g0079 | 1 | 258 | 0.0039 | 316 | c.131 others(335): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LMO7_chr13_75631330_75864866 | 75705912 | T | TAAAGGAT others(309): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0015 | a0015c0028 | a0015c0028t0004 | a0015c0028t0004g0133 | 1 | 272 | 0.0037 | 316 | c.70- others(331): Show |
LMO7 | ENSG00000136153.20 | transcript | ENST00000377534.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LOC102725191_chr7_12499441_12546270 | 12526940 | A | ACTTTCCA others(309): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0198 | 1 | 422 | 0.0024 | 316 | c.544 others(333): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LOC102725191_chr7_12499441_12546270 | 12527001 | C | CTGAAATG others(309): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 422 | 0.0024 | 316 | c.544 others(333): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LOC102725191_chr7_12499441_12546270 | 12527001 | C | CTGAAATG others(309): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(193): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0007a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0021 others(161): Show |
196 | 422 | 0.4645 | 316 | c.544 others(333): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LOC102725191_chr7_12499441_12546270 | 12527001 | C | CTGAAATG others(309): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0048 | 1 | 422 | 0.0024 | 316 | c.544 others(333): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LOC102725191_chr7_12499441_12546270 | 12527001 | C | CTGAAATG others(309): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0192 | 1 | 422 | 0.0024 | 316 | c.544 others(333): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LOC122526780_chr17_6631780_6645316 | 6635337 | T | TAAAAGCA others(309): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 428 | 0.0023 | 316 | c.*14 others(327): Show |
LOC122526780 | ENSG00000282936.3 | transcript | ENST00000713584.1 | protein_coding | 1442 | chr17 | TogoVar |