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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRTC3_chr15_90524923_90650345 | 90647220 | A | ACAATCCT others(19): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 | a0003 | a0003c0013 | a0003c0013t0004 | a0003c0013t0004g0014 | 1 | 198 | 0.0051 | 26 | c.*50 others(37): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1876 | chr15 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647292 | T | TCCTCCTC others(19): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 NA18940.hp1 NA18944.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0004 a0001c0004t0004g0005 a0001c0004t0004g0007 others(3): Show |
6 | 274 | 0.0219 | 26 | c.*51 others(37): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1948 | chr15 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647301 | A | ACAATCCT others(19): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG02074.hp2 NA20752.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0059 a0001c0001t0001g0209 a0002c0002t0005g0114 |
3 | 215 | 0.0140 | 26 | c.*51 others(37): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1957 | chr15 | TogoVar | |||||||
CRX_chr19_47816937_47848324 | 47820134 | T | TGTGTGTG others(19): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02622.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0007 a0001c0001t0001g0189 a0001c0001t0001g0190 others(2): Show |
5 | 149 | 0.0336 | 26 | c.-19 others(37): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1802 | chr19 | TogoVar | |||||||
CRX_chr19_47816937_47848324 | 47820134 | T | TGTGTGTG others(19): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(138): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(120): Show |
141 | 285 | 0.4947 | 26 | c.-19 others(37): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1802 | chr19 | TogoVar | |||||||
CRYBA4_chr22_26616963_26635669 | 26627359 | C | CCCTCCCT others(19): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 303 | 0.0033 | 26 | c.301 others(41): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218690 | A | AAGAGAGA others(19): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 291 | 0.0034 | 26 | c.-10 others(37): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 948 | chr22 | TogoVar | |||||||
CRYBB2_chr22_25214639_25236869 | 25218820 | A | AAGAAAGA others(19): Show |
upstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 355 | 0.0028 | 26 | c.-87 others(35): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 818 | chr22 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106377621 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01884.hp1 HG01891.hp1 |
a0006a0007a0031 | a0006c0005a0007c0007a0031c0035 | a0006c0005t0004a0007c0007t0012a0031c0035t0001 | a0006c0005t0004g0112 a0007c0007t0012g0149 a0031c0035t0001g0254 |
3 | 222 | 0.0135 | 26 | c.173 others(45): 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(19): Show |
intron_variant | MODIFIER | HG03098.hp1 NA19010.hp2 |
a0001a0066 | a0001c0001a0066c0077 | a0001c0001t0001a0066c0077t0001 | a0001c0001t0001g0194 a0066c0077t0001g0204 |
2 | 32 | 0.0625 | 26 | c.174 others(43): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG3_chr3_97817011_97949984 | 97841218 | G | GTATATGT others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02280.hp1 others(6): Show |
a0002a0006a0016others(1): Show | a0002c0018a0006c0008a0016c0019others(1): Show | a0002c0018t0001a0006c0008t0001a0016c0019t0001others(1): Show | a0002c0018t0001g0159 a0006c0008t0001g0151 a0006c0008t0001g0152 others(6): Show |
9 | 314 | 0.0287 | 26 | c.150 others(43): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CRYBG3_chr3_97817011_97949984 | 97946586 | G | GTATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0027 | 1 | 116 | 0.0086 | 26 | c.*32 others(37): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 1603 | chr3 | TogoVar | |||||||
CRYGN_chr7_151423832_151445141 | 151428290 | C | CTTCTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG01496.hp2 HG02015.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0003g0005 others(7): Show |
27 | 214 | 0.1262 | 26 | c.*17 others(37): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 541 | chr7 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20466682 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 108 | 0.0093 | 26 | c.276 others(45): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20497259 | A | ACATACAC others(19): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02109.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0089 a0001c0001t0001g0120 a0001c0001t0001g0216 others(11): Show |
14 | 248 | 0.0565 | 26 | c.150 others(43): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
CRYZL1_chr21_33584341_33646741 | 33605530 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02559.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0184 others(1): Show |
4 | 6 | 0.6667 | 26 | c.332 others(43): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 6/12 | chr21 | TogoVar | |||||||
CSAD_chr12_53152663_53185925 | 53184114 | G | GGTGTGTG others(19): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 200 | 0.0050 | 26 | c.-34 others(37): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 3190 | chr12 | TogoVar | |||||||
CSAG1_chrX_152722484_152738721 | 152729992 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01346.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0003 | a0001c0001t0001g0087 a0002c0002t0002g0007 a0002c0002t0002g0069 others(1): Show |
15 | 232 | 0.0647 | 26 | c.17- others(41): Show |
CSAG1 | ENSG00000198930.13 | transcript | ENST00000452779.3 | protein_coding | 2/3 | chrX | TogoVar | |||||||
CSAG1_chrX_152722484_152738721 | 152730009 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01081.hp1 HG02602.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 a0002c0002t0002g0017 a0002c0002t0002g0034 others(2): Show |
18 | 227 | 0.0793 | 26 | c.17- others(41): Show |
CSAG1 | ENSG00000198930.13 | transcript | ENST00000452779.3 | protein_coding | 2/3 | chrX | TogoVar | |||||||
CSAG2_chrX_152703261_152714273 | 152709625 | G | GAGAGAGA others(19): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 205 | 0.0049 | 26 | c.-51 others(35): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 353 | chrX | TogoVar | |||||||
CSDE1_chr1_114711916_114762984 | 114736601 | A | ACATATTC others(19): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02145.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0146 a0001c0001t0001g0151 others(11): Show |
15 | 326 | 0.0460 | 26 | c.500 others(41): Show |
CSDE1 | ENSG00000009307.17 | transcript | ENST00000358528.9 | protein_coding | 6/19 | chr1 | TogoVar | |||||||
CSE1L_chr20_49041312_49101949 | 49065312 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | NA18978.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 a0001c0001t0002g0069 |
2 | 251 | 0.0080 | 26 | c.229 others(41): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3/24 | chr20 | TogoVar | |||||||
CSE1L_chr20_49041312_49101949 | 49065313 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 a0001c0001t0002g0048 |
2 | 257 | 0.0078 | 26 | c.229 others(41): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1281182 | T | TCCTCCTC others(19): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03453.hp2 |
a0002a0003 | a0002c0003a0003c0018 | a0002c0003t0001a0003c0018t0005 | a0002c0003t0001g0003 a0003c0018t0005g0129 |
2 | 157 | 0.0127 | 26 | c.-26 others(43): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | chrX | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19408949 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01261.hp2 others(9): Show |
a0001a0002a0007 | a0001c0002a0001c0006a0002c0003others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0006t0002others(3): Show | a0001c0002t0002g0027 a0001c0002t0002g0046 a0001c0002t0002g0103 others(9): Show |
12 | 87 | 0.1379 | 26 | c.122 others(43): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19513436 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0227 | 1 | 100 | 0.0100 | 26 | c.-29 others(45): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19513436 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0048 | a0001c0002t0048g0238 | 1 | 100 | 0.0100 | 26 | c.-29 others(45): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19513436 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 100 | 0.0100 | 26 | c.-29 others(45): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19514475 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0093 | 1 | 44 | 0.0227 | 26 | c.-29 others(45): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19514475 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 NA19011.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0019a0002c0003t0007a0002c0003t0012others(1): Show | a0001c0001t0019g0016 a0002c0003t0007g0176 a0002c0003t0012g0066 others(1): Show |
4 | 47 | 0.0851 | 26 | c.-29 others(45): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19553620 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00738.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0002a0001c0002t0005others(4): Show | a0001c0001t0002g0217 a0001c0002t0002g0008 a0001c0002t0002g0067 others(8): Show |
11 | 151 | 0.0728 | 26 | c.-29 others(47): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19599472 | A | AAAAGAAA others(19): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0048 | 1 | 44 | 0.0227 | 26 | c.-29 others(45): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666809 | A | AAGAAAGA others(19): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0004 | a0004c0009 | a0004c0009t0003 | a0004c0009t0003g0107 | 1 | 172 | 0.0058 | 26 | c.-39 others(47): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT2_chr10_43133445_43190302 | 43188636 | A | AAAATCAA others(19): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 396 | 0.0025 | 26 | c.*50 others(37): Show |
CSGALNACT2 | ENSG00000169826.8 | transcript | ENST00000374466.4 | protein_coding | 3335 | chr10 | TogoVar | |||||||
CSH1_chr17_63889918_63901574 | 63898148 | C | CTTTCTTT others(19): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 NA18747.hp1 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0003c0008t0001 | a0001c0001t0001g0001 a0003c0008t0001g0025 |
2 | 280 | 0.0071 | 26 | c.-16 others(37): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1575 | chr17 | TogoVar | |||||||
CSH1_chr17_63889918_63901574 | 63898152 | C | CTTTCTTT others(19): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 NA18968.hp2 NA18999.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 294 | 0.0170 | 26 | c.-16 others(37): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1579 | chr17 | TogoVar | |||||||
CSH1_chr17_63889918_63901574 | 63898164 | C | CTTTCTTT others(19): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 291 | 0.0034 | 26 | c.-16 others(37): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1591 | chr17 | TogoVar | |||||||
CSH1_chr17_63889918_63901574 | 63898168 | C | CTTTCTTT others(19): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0009 | 1 | 285 | 0.0035 | 26 | c.-16 others(37): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1595 | chr17 | TogoVar | |||||||
CSH1_chr17_63889918_63901574 | 63898172 | C | CTCTCTTT others(19): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0015 | 1 | 236 | 0.0042 | 26 | c.-16 others(37): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1599 | chr17 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 2974063 | G | GTGGTAGA others(19): Show |
intron_variant | MODIFIER | HG01255.hp1 NA20129.hp2 |
a0001a0002 | a0001c0111a0002c0031 | a0001c0111t0045a0002c0031t0015 | a0001c0111t0045g0063 a0002c0031t0015g0001 |
2 | 50 | 0.0400 | 26 | c.874 others(43): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 56/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3155359 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 6 | 0.1667 | 26 | c.591 others(45): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 39/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3182841 | G | GGGGTGTG others(19): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01261.hp2 HG01934.hp1 others(7): Show |
a0001a0002a0004others(5): Show | a0001c0003a0001c0073a0001c0093others(7): Show | a0001c0003t0019a0001c0073t0006a0001c0093t0009others(7): Show | a0001c0003t0019g0107 a0001c0073t0006g0108 a0001c0093t0009g0007 others(7): Show |
10 | 18 | 0.5556 | 26 | c.562 others(45): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 36/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3182841 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02572.hp2 NA19060.hp1 |
a0001a0008a0012 | a0001c0007a0008c0029a0012c0011 | a0001c0007t0001a0008c0029t0013a0012c0011t0072 | a0001c0007t0001g0035 a0008c0029t0013g0054 a0012c0011t0072g0101 |
3 | 11 | 0.2727 | 26 | c.562 others(45): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 36/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3237695 | C | CAAATATA others(19): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG01123.hp2 others(3): Show |
a0001a0002a0012 | a0001c0002a0001c0003a0001c0049others(3): Show | a0001c0002t0061a0001c0003t0008a0001c0049t0002others(3): Show | a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0049t0002g0071 others(3): Show |
6 | 126 | 0.0476 | 26 | c.415 others(45): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 26/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3237823 | C | CAAATATA others(19): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01934.hp2 |
a0003a0014 | a0003c0099a0014c0098 | a0003c0099t0012a0014c0098t0027 | a0003c0099t0012g0020 a0014c0098t0027g0019 |
2 | 51 | 0.0392 | 26 | c.415 others(45): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 26/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3382507 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0073 | a0001c0073t0006 | a0001c0073t0006g0108 | 1 | 77 | 0.0130 | 26 | c.278 others(45): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 18/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3411972 | A | ATATATAC others(19): Show |
intron_variant | MODIFIER | HG02886.hp2 NA18982.hp1 |
a0002a0003 | a0002c0078a0003c0086 | a0002c0078t0044a0003c0086t0002 | a0002c0078t0044g0064 a0003c0086t0002g0118 |
2 | 75 | 0.0267 | 26 | c.156 others(45): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3439281 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01255.hp1 |
a0002a0010 | a0002c0031a0010c0096 | a0002c0031t0015a0010c0096t0065 | a0002c0031t0015g0001 a0010c0096t0065g0116 |
2 | 107 | 0.0187 | 26 | c.156 others(47): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3520019 | C | CATATACA others(19): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0019 | a0001c0019t0078 | a0001c0019t0078g0105 | 1 | 122 | 0.0082 | 26 | c.134 others(47): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3520020 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03516.hp1 |
a0004a0007 | a0004c0014a0007c0083 | a0004c0014t0055a0007c0083t0004 | a0004c0014t0055g0056 a0007c0083t0004g0006 |
2 | 76 | 0.0263 | 26 | c.134 others(47): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar |