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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SAMD11_chr1_918923_949574 | 934148 | A | AGGGGAGG others(1736): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0307 | 1 | 298 | 0.0034 | 1743 | c.843 others(1760): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1737): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 76 | 0.0132 | 1744 | c.955 others(1761): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181908 | T | TCACACAC others(1737): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 421 | 0.0024 | 1744 | c.193 others(1761): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065098 | A | ATAGTATT others(1737): Show |
upstream_gene_variant | MODIFIER | HG01978.hp2 | a0007 | a0007c0043 | a0007c0043t0002 | a0007c0043t0002g0058 | 1 | 330 | 0.0030 | 1744 | c.-25 others(1755): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2233 | chr11 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1737): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 47 | 0.0213 | 1744 | c.338 others(1763): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1737): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 27 | 0.0370 | 1744 | c.147 others(1763): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1737): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 | 1 | 11 | 0.0909 | 1744 | c.104 others(1763): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1737): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0141 a0001c0001t0003g0153 a0001c0001t0003g0228 |
3 | 13 | 0.2308 | 1744 | c.104 others(1763): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1737): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0244 | 1 | 11 | 0.0909 | 1744 | c.104 others(1763): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997135 | T | TGGGGGCG others(1737): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 a0001c0001t0002g0266 |
2 | 371 | 0.0054 | 1744 | c.-23 others(1755): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 535 | chr6 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364365 | G | GCTTACAC others(1737): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0009 | 1 | 246 | 0.0041 | 1744 | c.129 others(1763): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952193 | G | GAGACCAA others(1737): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0140 | 1 | 152 | 0.0066 | 1744 | c.360 others(1763): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1737): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0016 | a0001c0016t0007 | a0001c0016t0007g0123 | 1 | 2 | 0.5000 | 1744 | c.162 others(1763): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1737): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 217 | 0.0046 | 1744 | c.-93 others(1761): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VCX_chrX_7838171_7849143 | 7844261 | G | GGTGGTGT others(1737): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0001 | 2 | 235 | 0.0085 | 1744 | c.*24 others(1753): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 119 | chrX | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1738): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01952.hp2 HG01975.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0252 a0001c0001t0001g0253 |
4 | 33 | 0.1212 | 1745 | c.445 others(1760): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1738): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0146 | 1 | 47 | 0.0213 | 1745 | c.338 others(1764): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1738): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02071.hp2 NA19079.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 a0001c0002t0001g0229 a0001c0002t0001g0250 |
3 | 13 | 0.2308 | 1745 | c.104 others(1764): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1738): Show |
intron_variant | MODIFIER | HG02129.hp2 NA18994.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0052 a0001c0001t0001g0217 a0001c0001t0010g0263 |
3 | 13 | 0.2308 | 1745 | c.104 others(1764): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1738): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 11 | 0.0909 | 1745 | c.104 others(1764): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1738): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0060 | 1 | 11 | 0.0909 | 1745 | c.104 others(1764): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1738): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02055.hp2 HG02145.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0002 | a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0003t0001g0082 others(4): Show |
7 | 17 | 0.4118 | 1745 | c.104 others(1764): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202205211 | C | CACACACA others(1738): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18998.hp2 NA19002.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0127 a0001c0001t0001g0158 a0002c0002t0002g0141 |
3 | 204 | 0.0147 | 1745 | c.212 others(1764): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1738): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0120 | 1 | 18 | 0.0556 | 1745 | c.-28 others(1764): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934959 | C | CGGGGGGG others(1738): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0304 | 1 | 420 | 0.0024 | 1745 | c.843 others(1760): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75280137 | T | TATATATA others(1738): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0095 | 1 | 46 | 0.0217 | 1745 | c.176 others(1762): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44181908 | T | TCACACAC others(1739): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 421 | 0.0024 | 1746 | c.193 others(1763): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181908 | T | TCACACAC others(1739): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 421 | 0.0024 | 1746 | c.193 others(1763): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1739): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0010 | a0010c0066 | a0010c0066t0001 | a0010c0066t0001g0235 | 1 | 13 | 0.0769 | 1746 | c.109 others(1765): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400975 | C | CACCACCA others(1739): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0114 | a0002c0114t0001 | a0002c0114t0001g0015 | 1 | 155 | 0.0065 | 1746 | c.323 others(1765): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1739): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0137 | 1 | 11 | 0.0909 | 1746 | c.104 others(1765): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1739): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0034 | 1 | 11 | 0.0909 | 1746 | c.104 others(1765): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1739): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0123 | 1 | 11 | 0.0909 | 1746 | c.104 others(1765): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1739): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0100 | 1 | 11 | 0.0909 | 1746 | c.104 others(1765): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1739): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0016 | 1 | 3 | 0.3333 | 1746 | c.-12 others(1765): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841612 | A | AGCATCTC others(1739): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 140 | 0.0071 | 1746 | c.361 others(1765): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1739): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 135 | 0.0074 | 1746 | c.*31 others(1757): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAC others(1739): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 82 | 0.0122 | 1746 | c.147 others(1763): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79495503 | A | AGGGGTGG others(1739): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 152 | 0.0066 | 1746 | c.-31 others(1767): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47089406 | T | TTAATGTT others(1739): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 117 | 0.0085 | 1746 | c.347 others(1761): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | chrX | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744883 | C | CCCTGGCT others(1739): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0013 | a0001c0013t0013 | a0001c0013t0013g0064 | 1 | 150 | 0.0067 | 1746 | c.655 others(1763): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1739): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0097 | 1 | 18 | 0.0556 | 1746 | c.-28 others(1765): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432165 | T | TAGGGTGG others(1739): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0186 | 1 | 278 | 0.0036 | 1746 | c.101 others(1763): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(1739): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02280.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0034 a0001c0008t0001g0039 |
2 | 95 | 0.0211 | 1746 | c.206 others(1765): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
TMEM178B_chr7_141069064_141485380 | 141337156 | C | CACCACCA others(1739): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0046 | 1 | 34 | 0.0294 | 1746 | c.497 others(1767): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRPM3_chr9_70524060_71126621 | 70969529 | T | TAATAAAC others(1739): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18522.hp2 |
a0003 | a0003c0015a0003c0027 | a0003c0015t0033a0003c0027t0035 | a0003c0015t0033g0002 a0003c0027t0035g0007 |
2 | 210 | 0.0095 | 1746 | c.178 others(1767): Show |
TRPM3 | ENSG00000083067.26 | transcript | ENST00000677713.2 | protein_coding | 1/25 | chr9 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(1740): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 82 | 0.0122 | 1747 | c.106 others(1766): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41775806 | G | GTTCTCAC others(1740): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0016a0001c0005t0019 | a0001c0001t0016g0016 a0001c0005t0019g0015 |
2 | 135 | 0.0148 | 1747 | c.278 others(1766): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 3/26 | chrX | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255704 | G | GGGCAGGC others(1740): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 260 | 0.0038 | 1747 | c.85- others(1764): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1740): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 57 | 0.0175 | 1747 | c.*31 others(1758): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar |