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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC183_chr9_136791338_136812741 | 136803223 | C | CCCAGGGC others(1760): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0007 | a0007c0018 | a0007c0018t0002 | a0007c0018t0002g0116 | 1 | 355 | 0.0028 | 1767 | c.666 others(1782): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647405 | T | TCCTCCTC others(1760): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 266 | 0.0038 | 1767 | c.*52 others(1778): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2061 | chr15 | TogoVar | |||||||
GJD4_chr10_35600341_35613935 | 35610827 | C | CAAATAAC others(1760): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0031 | 1 | 180 | 0.0056 | 1767 | c.*22 others(1778): Show |
GJD4 | ENSG00000177291.4 | transcript | ENST00000321660.2 | protein_coding | 1893 | chr10 | TogoVar | |||||||
GRM6_chr5_178973327_179000320 | 178999617 | C | CACCCGCC others(1760): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 | a0004 | a0004c0007 | a0004c0007t0006 | a0004c0007t0006g0022 | 1 | 355 | 0.0028 | 1767 | c.-43 others(1778): Show |
GRM6 | ENSG00000113262.16 | transcript | ENST00000517717.3 | protein_coding | 4298 | chr5 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514822 | T | TTCACACT others(1760): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0253 | 1 | 262 | 0.0038 | 1767 | c.104 others(1786): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1760): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0182 | 1 | 11 | 0.0909 | 1767 | c.104 others(1786): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1760): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 11 | 0.0909 | 1767 | c.104 others(1786): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1760): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 11 | 0.0909 | 1767 | c.104 others(1786): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1760): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 11 | 0.0909 | 1767 | c.104 others(1786): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1760): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 11 | 0.0909 | 1767 | c.104 others(1786): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1760): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0233 | 1 | 11 | 0.0909 | 1767 | c.104 others(1786): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1760): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 3 | 0.3333 | 1767 | c.-12 others(1786): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344644 | A | AGGGGGTT others(1760): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0188 | 1 | 342 | 0.0029 | 1767 | c.4-1 others(1780): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143981429 | G | GTGGTGAT others(1760): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0014 | a0014c0018 | a0014c0018t0001 | a0014c0018t0001g0052 | 1 | 271 | 0.0037 | 1767 | c.255 others(1786): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313409 | T | TCCCAGTG others(1760): Show |
intron_variant | MODIFIER | HG02886.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0312 a0001c0001t0003g0313 |
2 | 334 | 0.0060 | 1767 | c.327 others(1784): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1760): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 146 | 0.0068 | 1767 | c.114 others(1784): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 415528 | C | CGAATCTG others(1761): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0076 | 1 | 256 | 0.0039 | 1768 | c.441 others(1785): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACACAC others(1761): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 316 | 0.0032 | 1768 | c.193 others(1785): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACACAC others(1761): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 316 | 0.0032 | 1768 | c.193 others(1785): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802884 | C | CCCAAGGC others(1761): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0059 | 1 | 382 | 0.0026 | 1768 | c.666 others(1783): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20356850 | T | TGGTCACA others(1761): Show |
intron_variant | MODIFIER | NA18947.hp2 NA19007.hp2 NA19070.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030 a0002c0002t0001g0151 a0002c0002t0001g0152 others(1): Show |
4 | 233 | 0.0172 | 1768 | c.351 others(1787): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(1761): Show |
intron_variant | MODIFIER | NA18967.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 a0001c0001t0001g0157 |
2 | 17 | 0.1176 | 1768 | c.164 others(1787): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(1761): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0012a0001c0008t0001 | a0001c0001t0012g0034 a0001c0008t0001g0025 |
2 | 5 | 0.4000 | 1768 | c.347 others(1789): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(1761): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 4 | 0.2500 | 1768 | c.347 others(1789): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(1761): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03098.hp2 NA21309.hp1 |
a0001a0002 | a0001c0002a0001c0010a0002c0017 | a0001c0002t0001a0001c0010t0002a0002c0017t0015 | a0001c0002t0001g0021 a0001c0010t0002g0014 a0002c0017t0015g0037 |
3 | 6 | 0.5000 | 1768 | c.347 others(1789): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1761): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0301 | 1 | 7 | 0.1429 | 1768 | c.*16 others(1779): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1761): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0214 | 1 | 7 | 0.1429 | 1768 | c.*16 others(1779): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1761): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0326 | 1 | 7 | 0.1429 | 1768 | c.*16 others(1779): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1761): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0341 | 1 | 7 | 0.1429 | 1768 | c.*16 others(1779): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1761): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0256 | 1 | 7 | 0.1429 | 1768 | c.*16 others(1779): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1761): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 7 | 0.1429 | 1768 | c.*16 others(1779): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1761): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 7 | 0.1429 | 1768 | c.*22 others(1779): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1761): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 7 | 0.1429 | 1768 | c.*22 others(1779): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1761): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 7 | 0.1429 | 1768 | c.*22 others(1779): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1761): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 7 | 0.1429 | 1768 | c.*22 others(1779): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1761): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 7 | 0.1429 | 1768 | c.*22 others(1779): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1761): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0064 | 1 | 7 | 0.1429 | 1768 | c.*22 others(1779): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1761): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 7 | 0.1429 | 1768 | c.*22 others(1779): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TGGTGGTG others(1761): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01169.hp1 others(10): Show |
a0002a0003a0005others(7): Show | a0002c0001a0003c0011a0003c0020others(9): Show | a0002c0001t0037a0003c0011t0005a0003c0011t0072others(10): Show | a0002c0001t0037g0035 a0003c0011t0005g0051 a0003c0011t0072g0018 others(10): Show |
13 | 36 | 0.3611 | 1768 | c.366 others(1787): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364461 | C | CCACCCAC others(1761): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0008 | 1 | 256 | 0.0039 | 1768 | c.129 others(1785): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1761): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024 | 1 | 3 | 0.3333 | 1768 | c.-12 others(1787): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811333 | C | CTCCCTCC others(1761): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0109 | 1 | 139 | 0.0072 | 1768 | c.773 others(1783): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344644 | A | AGGGGGTT others(1761): Show |
intron_variant | MODIFIER | NA18977.hp2 NA18980.hp2 NA19091.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 | 3 | 344 | 0.0087 | 1768 | c.4-1 others(1781): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344644 | A | AGGGGGTT others(1761): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0207 | 1 | 342 | 0.0029 | 1768 | c.4-1 others(1781): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344644 | A | AGGGGGTT others(1761): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0213 | 1 | 342 | 0.0029 | 1768 | c.4-1 others(1781): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803145 | G | GCCGGGGG others(1761): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0112 | 1 | 187 | 0.0053 | 1768 | c.-50 others(1779): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4802 | chr9 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1761): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0299 | 1 | 126 | 0.0079 | 1768 | c.45- others(1783): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311361 | G | GCCTCATC others(1761): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02818.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0007a0001c0005t0007 | a0001c0001t0007g0067 a0001c0005t0007g0005 |
3 | 332 | 0.0090 | 1768 | c.327 others(1785): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311871 | G | GCCTCATC others(1761): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0321 | 1 | 340 | 0.0029 | 1768 | c.327 others(1785): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1761): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 146 | 0.0068 | 1768 | c.114 others(1785): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar |