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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4939): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0163 | 1 | 23 | 0.0435 | 4946 | c.137 others(4963): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4939): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172 | 1 | 23 | 0.0435 | 4946 | c.137 others(4963): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4939): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0166 | 1 | 23 | 0.0435 | 4946 | c.137 others(4963): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964887 | G | GGGAAATT others(4939): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0171 | 1 | 266 | 0.0038 | 4946 | c.137 others(4963): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4940): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 3 | 0.3333 | 4947 | c.-34 others(4962): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4940): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 2 | 4 | 0.5000 | 4947 | c.-34 others(4962): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4940): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 3 | 0.3333 | 4947 | c.-34 others(4962): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4940): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0145 | 1 | 3 | 0.3333 | 4947 | c.-34 others(4962): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(4940): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0118 | 1 | 20 | 0.0500 | 4947 | c.206 others(4966): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
ARFRP1_chr20_63693647_63712976 | 63693651 | T | TCCACCAC others(4942): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 202 | 0.0050 | 4949 | c.*67 others(4960): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4995 | chr20 | TogoVar | |||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTTCCTTC others(4942): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 2 | 0.5000 | 4949 | c.125 others(4966): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4942): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 3 | 0.3333 | 4949 | c.-34 others(4964): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4942): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02451.hp2 |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0007c0007t0001 | a0001c0001t0001g0028 a0007c0007t0001g0028 |
2 | 4 | 0.5000 | 4949 | c.-34 others(4964): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4942): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 3 | 0.3333 | 4949 | c.-34 others(4964): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4942): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 3 | 0.3333 | 4949 | c.-34 others(4964): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4942): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 2 | 4 | 0.5000 | 4949 | c.-34 others(4964): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4942): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01071.hp2 others(24): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0013a0001c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0089 a0001c0001t0001g0126 others(2): Show |
27 | 29 | 0.9310 | 4949 | c.-34 others(4964): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4942): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 3 | 0.3333 | 4949 | c.-34 others(4964): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4942): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 3 | 0.3333 | 4949 | c.-34 others(4964): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4942): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 3 | 0.3333 | 4949 | c.-34 others(4964): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(4943): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0086 | 1 | 2 | 0.5000 | 4950 | c.477 others(4971): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 25055084 | C | CACATGTA others(4943): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 116 | 0.0086 | 4950 | c.858 others(4967): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4944): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 3 | 0.3333 | 4951 | c.-34 others(4966): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4944): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 2 | 4 | 0.5000 | 4951 | c.-34 others(4966): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4944): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 3 | 0.3333 | 4951 | c.-34 others(4966): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294562 | A | AACTCTAG others(4944): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 296 | 0.0034 | 4951 | c.340 others(4968): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
HBG2_chr11_5248188_5259781 | 5254113 | C | CTCCTTAG others(4945): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 203 | 0.0049 | 4952 | c.315 others(4967): Show |
HBG2 | ENSG00000196565.15 | transcript | ENST00000336906.6 | protein_coding | 2/2 | chr11 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544524 | G | GGACAGTG others(4946): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0055 | 1 | 265 | 0.0038 | 4953 | c.153 others(4972): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1223081 | G | GCTGTGGA others(4948): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 188 | 0.0053 | 4955 | c.719 others(4974): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111809 | G | GCACCTCC others(4949): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0023 | a0001c0023t0009 | a0001c0023t0009g0308 | 1 | 283 | 0.0035 | 4956 | c.401 others(4973): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(4949): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 154 | 0.0065 | 4956 | c.136 others(4973): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(4949): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 154 | 0.0065 | 4956 | c.136 others(4973): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4949): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 8 | 0.1250 | 4956 | c.-45 others(4965): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GACAGCCA others(4950): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 198 | 0.0051 | 4957 | c.340 others(4974): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(4950): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0199 | 1 | 198 | 0.0051 | 4957 | c.340 others(4974): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(4951): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0015 a0001c0002t0011g0016 |
2 | 43 | 0.0465 | 4958 | c.139 others(4979): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294258 | G | GCAAGTTA others(4951): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 282 | 0.0035 | 4958 | c.340 others(4975): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1223101 | G | GACCGCTG others(4952): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 164 | 0.0061 | 4959 | c.719 others(4978): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35914283 | A | AGTGTGTG others(4954): Show |
downstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 225 | 0.0044 | 4961 | c.*35 others(4972): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2598 | chr9 | TogoVar | |||||||
HBG1_chr11_5243269_5254857 | 5253698 | G | GCGCACAC others(4957): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 NA18978.hp2 NA19079.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 159 | 0.0252 | 4964 | c.-38 others(4975): Show |
HBG1 | ENSG00000213934.9 | transcript | ENST00000330597.5 | protein_coding | 3842 | chr11 | TogoVar | |||||||
HBG1_chr11_5243269_5254857 | 5253698 | G | GCGCACAC others(4957): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 156 | 0.0064 | 4964 | c.-38 others(4975): Show |
HBG1 | ENSG00000213934.9 | transcript | ENST00000330597.5 | protein_coding | 3842 | chr11 | TogoVar | |||||||
HBG2_chr11_5248188_5259781 | 5253698 | G | GCGCACAC others(4957): Show |
intron_variant | MODIFIER | NA18959.hp2 NA19079.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 159 | 0.0189 | 4964 | c.316 others(4979): Show |
HBG2 | ENSG00000196565.15 | transcript | ENST00000336906.6 | protein_coding | 2/2 | chr11 | TogoVar | |||||||
HBG2_chr11_5248188_5259781 | 5253698 | G | GCGCACAC others(4957): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 157 | 0.0064 | 4964 | c.316 others(4979): Show |
HBG2 | ENSG00000196565.15 | transcript | ENST00000336906.6 | protein_coding | 2/2 | chr11 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(4957): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 | 1 | 112 | 0.0089 | 4964 | c.719 others(4983): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35914283 | A | AGTGTGTG others(4958): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 225 | 0.0044 | 4965 | c.*35 others(4976): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2598 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914283 | A | AGTGTGTG others(4958): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 225 | 0.0044 | 4965 | c.*35 others(4976): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2598 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914283 | A | AGTGTGTG others(4958): Show |
downstream_gene_variant | MODIFIER | NA18953.hp1 NA18959.hp1 NA18963.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 230 | 0.0261 | 4965 | c.*35 others(4976): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2598 | chr9 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4959): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18952.hp1 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0112 a0001c0001t0001g0113 |
3 | 57 | 0.0526 | 4966 | c.891 others(4981): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4959): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 55 | 0.0182 | 4966 | c.891 others(4981): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
SP140L_chr2_230322193_230408732 | 230338021 | G | GTTCTGTG others(4959): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02015.hp1 HG02451.hp2 others(1): Show |
a0004a0005 | a0004c0005a0005c0008 | a0004c0005t0001a0005c0008t0001 | a0004c0005t0001g0082 a0004c0005t0001g0088 a0004c0005t0001g0089 others(1): Show |
4 | 298 | 0.0134 | 4966 | c.107 others(4983): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |