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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRPPA_chr7_16082525_16426538 | 16209273 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01071.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0010a0001c0001t0073others(5): Show | a0001c0001t0004g0006 a0001c0001t0004g0106 a0001c0001t0010g0128 others(7): Show |
10 | 126 | 0.0794 | 22 | c.125 others(41): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 9/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16236950 | G | GCACACAC others(15): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0253 | 1 | 131 | 0.0076 | 22 | c.112 others(43): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 8/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16286097 | A | AAAAAATA others(15): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0059 | a0002c0002t0059g0269 | 1 | 76 | 0.0132 | 22 | c.836 others(39): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 5/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16303477 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG03491.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(7): Show | a0001c0001t0002g0024 a0001c0001t0002g0098 a0001c0001t0009g0165 others(9): Show |
12 | 98 | 0.1224 | 22 | c.790 others(39): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 4/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0202 | 1 | 112 | 0.0089 | 22 | c.535 others(41): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 112 | 0.0089 | 22 | c.535 others(41): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18689564 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01884.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0015others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0127 others(7): Show |
10 | 207 | 0.0483 | 22 | c.126 others(39): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18689583 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0048 a0001c0001t0001g0061 a0001c0001t0001g0062 others(5): Show |
8 | 154 | 0.0519 | 22 | c.126 others(39): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18689583 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02257.hp2 HG03130.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0016 | a0002c0002t0003g0223 a0002c0002t0003g0225 a0002c0002t0016g0103 |
3 | 149 | 0.0201 | 22 | c.126 others(39): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724226 | T | TGTGGGGT others(15): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 272 | 0.0037 | 22 | c.127 others(41): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18728815 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02683.hp2 NA18985.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0079 others(2): Show |
5 | 95 | 0.0526 | 22 | c.127 others(41): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18786763 | C | CTTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01074.hp2 HG02165.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0015 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0068 others(2): Show |
5 | 53 | 0.0943 | 22 | c.*93 others(33): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 4431 | chr19 | TogoVar | |||||||
CRX_chr19_47816937_47848324 | 47820134 | T | TGTGTGCA others(15): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01978.hp1 HG02080.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(4): Show | a0001c0001t0001g0037 a0001c0001t0003g0202 a0001c0001t0013g0127 others(6): Show |
9 | 153 | 0.0588 | 22 | c.-19 others(33): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1802 | chr19 | TogoVar | |||||||
CRY2_chr11_45842475_45888244 | 45844931 | T | TAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010 | 1 | 306 | 0.0033 | 22 | c.-25 others(33): Show |
CRY2 | ENSG00000121671.12 | transcript | ENST00000616080.2 | protein_coding | 2543 | chr11 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106422344 | A | ATTTATTT others(15): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0062 | a0062c0045 | a0062c0045t0004 | a0062c0045t0004g0068 | 1 | 100 | 0.0100 | 22 | c.174 others(41): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106447547 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA18612.hp1 NA19063.hp2 |
a0001 | a0001c0001a0001c0067 | a0001c0001t0001a0001c0067t0001 | a0001c0001t0001g0119 a0001c0067t0001g0013 |
2 | 32 | 0.0625 | 22 | c.174 others(39): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG3_chr3_97817011_97949984 | 97946586 | G | GTATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02970.hp1 others(2): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0027 a0004c0005t0001g0162 a0004c0005t0001g0163 others(2): Show |
5 | 120 | 0.0417 | 22 | c.*32 others(33): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 1603 | chr3 | TogoVar | |||||||
CRYGN_chr7_151423832_151445141 | 151428290 | C | CTTCTTCT others(15): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 188 | 0.0053 | 22 | c.*17 others(33): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 541 | chr7 | TogoVar | |||||||
CRYGN_chr7_151423832_151445141 | 151428290 | C | CTTCTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01358.hp1 HG02145.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0003t0001 | a0001c0001t0002g0004 a0001c0001t0002g0031 a0001c0001t0002g0116 others(3): Show |
11 | 198 | 0.0556 | 22 | c.*17 others(33): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 541 | chr7 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20466682 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02809.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0069 a0001c0002t0001g0092 |
2 | 109 | 0.0183 | 22 | c.276 others(41): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20481991 | T | TGGCCATC others(15): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0045 | 1 | 248 | 0.0040 | 22 | c.276 others(39): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
CRYZL1_chr21_33584341_33646741 | 33605530 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01070.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0031 others(68): Show |
72 | 74 | 0.9730 | 22 | c.332 others(39): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 6/12 | chr21 | TogoVar | |||||||
CSAD_chr12_53152663_53185925 | 53184114 | G | GGTGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 201 | 0.0100 | 22 | c.-34 others(33): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 3190 | chr12 | TogoVar | |||||||
CSAD_chr12_53152663_53185925 | 53184150 | T | TGTGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 233 | 0.0043 | 22 | c.-35 others(33): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 3226 | chr12 | TogoVar | |||||||
CSAG1_chrX_152722484_152738721 | 152729992 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01123.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0003 | a0001c0001t0001g0036 a0001c0001t0001g0086 a0001c0001t0001g0088 others(8): Show |
16 | 233 | 0.0687 | 22 | c.17- others(37): Show |
CSAG1 | ENSG00000198930.13 | transcript | ENST00000452779.3 | protein_coding | 2/3 | chrX | TogoVar | |||||||
CSAG1_chrX_152722484_152738721 | 152730009 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00733.hp1 NA19088.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0032 | 2 | 211 | 0.0095 | 22 | c.17- others(37): Show |
CSAG1 | ENSG00000198930.13 | transcript | ENST00000452779.3 | protein_coding | 2/3 | chrX | TogoVar | |||||||
CSAG2_chrX_152703261_152714273 | 152709605 | A | AAGAGAGA others(15): Show |
upstream_gene_variant | MODIFIER | HG01071.hp1 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 85 | 0.0235 | 22 | c.-51 others(31): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 333 | chrX | TogoVar | |||||||
CSAG2_chrX_152703261_152714273 | 152709625 | G | GAGAGAGA others(15): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 205 | 0.0049 | 22 | c.-51 others(31): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 353 | chrX | TogoVar | |||||||
CSAG2_chrX_152703261_152714273 | 152709629 | G | GAGAGAGA others(15): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 168 | 0.0060 | 22 | c.-51 others(31): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 357 | chrX | TogoVar | |||||||
CSDC2_chr22_41556010_41581666 | 41561045 | G | GACACACA others(15): Show |
5_prime_UTR_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0010 | 1 | 173 | 0.0058 | 22 | c.-25 others(31): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 1/4 | 10913 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49065312 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 250 | 0.0040 | 22 | c.229 others(37): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3/24 | chr20 | TogoVar | |||||||
CSE1L_chr20_49041312_49101949 | 49065313 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01109.hp1 NA18956.hp1 NA18979.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0003 | a0001c0001t0002a0001c0001t0007a0005c0003t0002 | a0001c0001t0002g0027 a0001c0001t0002g0067 a0001c0001t0002g0087 others(2): Show |
5 | 260 | 0.0192 | 22 | c.229 others(37): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150084400 | A | AAAGAAAG others(15): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0219 | 1 | 404 | 0.0025 | 22 | c.49+ others(37): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
CSF1R_chr5_150048295_150091554 | 150085277 | G | GAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0357 | 1 | 111 | 0.0090 | 22 | c.49+ others(37): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19408949 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01099.hp1 others(13): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(11): Show | a0001c0001t0001g0131 a0001c0001t0002g0059 a0001c0001t0017g0165 others(13): Show |
16 | 91 | 0.1758 | 22 | c.122 others(39): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19513432 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0007 | a0007c0014 | a0007c0014t0006 | a0007c0014t0006g0230 | 1 | 231 | 0.0043 | 22 | c.-29 others(41): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19513436 | C | CTCTATAT others(15): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 100 | 0.0100 | 22 | c.-29 others(41): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19513436 | C | CTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0130 | 1 | 100 | 0.0100 | 22 | c.-29 others(41): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19514475 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0003 | a0002c0003t0020 | a0002c0003t0020g0078 | 1 | 44 | 0.0227 | 22 | c.-29 others(41): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19541553 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0132 | 1 | 74 | 0.0135 | 22 | c.-29 others(43): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19553620 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01243.hp2 HG02015.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0006others(8): Show | a0001c0001t0001g0065 a0001c0001t0001g0137 a0001c0002t0002g0084 others(10): Show |
13 | 153 | 0.0850 | 22 | c.-29 others(43): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19577401 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG01884.hp1 others(1): Show |
a0002a0005a0006 | a0002c0003a0005c0011a0006c0021 | a0002c0003t0005a0002c0003t0011a0005c0011t0003others(1): Show | a0002c0003t0005g0093 a0002c0003t0011g0188 a0005c0011t0003g0180 others(1): Show |
4 | 221 | 0.0181 | 22 | c.-29 others(43): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19599472 | A | AAAAGAAA others(15): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02647.hp2 HG03225.hp1 others(2): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0010a0001c0002t0005a0001c0002t0006others(2): Show | a0001c0001t0010g0150 a0001c0002t0005g0172 a0001c0002t0006g0047 others(2): Show |
5 | 48 | 0.1042 | 22 | c.-29 others(41): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSH1_chr17_63889918_63901574 | 63898148 | C | CTTTCTTT others(15): Show |
upstream_gene_variant | MODIFIER | NA18972.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 280 | 0.0071 | 22 | c.-16 others(33): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1575 | chr17 | TogoVar | |||||||
CSH1_chr17_63889918_63901574 | 63898152 | C | CTTTCTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 290 | 0.0034 | 22 | c.-16 others(33): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1579 | chr17 | TogoVar | |||||||
CSH1_chr17_63889918_63901574 | 63898156 | C | CTTTCTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 NA18974.hp2 NA19059.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 300 | 0.0100 | 22 | c.-16 others(33): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1583 | chr17 | TogoVar | |||||||
CSH1_chr17_63889918_63901574 | 63898172 | C | CTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003 | 1 | 236 | 0.0042 | 22 | c.-16 others(33): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1599 | chr17 | TogoVar | |||||||
CSH1_chr17_63889918_63901574 | 63898172 | C | CTCTCTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0010 | 1 | 236 | 0.0042 | 22 | c.-16 others(33): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1599 | chr17 | TogoVar | |||||||
CSK_chr15_74777080_74808197 | 74786013 | T | TTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02818.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0182 |
8 | 171 | 0.0468 | 22 | c.-66 others(39): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CSK_chr15_74777080_74808197 | 74786013 | T | TTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02896.hp1 HG02896.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0007 | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(2): Show | a0001c0001t0001g0076 a0001c0001t0012g0077 a0001c0001t0014g0143 others(2): Show |
5 | 168 | 0.0298 | 22 | c.-66 others(39): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |