regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHCHD6_chr3_126699240_126965420 | 126862846 | TCCTCCTC others(11): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02615.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0088a0001c0001t0001g0112a0001c0001t0001g0113others(2): Show | 5 | 216 | 0.0232 | -18 | c.495 others(37): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126864752 | ACTCCTCC others(11): Show |
A | intron_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 | 1 | 216 | 0.0046 | -18 | c.495 others(37): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126864841 | ACCATCAT others(11): Show |
A | intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 1 | 216 | 0.0046 | -18 | c.495 others(37): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126913207 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0028a0003c0004t0001g0029 | 2 | 216 | 0.0093 | -18 | c.496 others(35): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCT1_chr17_60417489_60436426 | 60419817 | AATTATTA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01358.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 5 | 322 | 0.0155 | -18 | c.-27 others(29): Show |
CHCT1 | ENSG00000141371.13 | transcript | ENST00000269127.5 | protein_coding | 2671 | chr17 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98883826 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0045 | 1 | 334 | 0.0030 | -18 | c.256 others(35): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98883847 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02723.hp2 HG02895.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0012a0002c0002t0002 | a0001c0003t0012g0301a0001c0003t0012g0302a0002c0002t0002g0112others(2): Show | 5 | 334 | 0.0150 | -18 | c.256 others(35): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98883849 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0304 | 1 | 334 | 0.0030 | -18 | c.256 others(35): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6607671 | AACACACA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG03098.hp2 HG04115.hp2 NA18941.hp1 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0016 | a0001c0002t0002a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0002t0002g0040a0001c0003t0002g0095a0001c0003t0003g0018others(8): Show | 11 | 374 | 0.0294 | -18 | c.-46 others(27): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 293 | chr12 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41498799 | ATGTATGT others(11): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02055.hp2 others(10): Show |
a0001a0011 | a0001c0001a0001c0025a0011c0020 | a0001c0001t0001a0001c0001t0013a0001c0025t0001others(1): Show | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0001g0204others(10): Show | 13 | 324 | 0.0401 | -18 | c.915 others(33): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 6/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41498803 | ATGTATGT others(11): Show |
A | intron_variant | MODIFIER | HG01258.hp1 HG01934.hp1 HG02148.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(1): Show | a0001c0001t0001g0222a0001c0001t0001g0294a0001c0001t0011g0225others(4): Show | 7 | 324 | 0.0216 | -18 | c.915 others(33): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 6/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41498807 | ATGTATGT others(11): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01070.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0002g0240a0001c0001t0002g0241a0001c0001t0002g0242others(5): Show | 8 | 324 | 0.0247 | -18 | c.915 others(33): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 6/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41585424 | TGGTTGCA others(11): Show |
T | intron_variant | MODIFIER | NA18946.hp2 NA19065.hp1 |
a0008 | a0008c0011 | a0008c0011t0008 | a0008c0011t0008g0006a0008c0011t0008g0007 | 2 | 324 | 0.0062 | -18 | c.-24 others(37): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21457628 | CAAAAAAA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02886.hp1 HG02897.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0168a0001c0001t0003g0185a0002c0002t0001g0182 | 3 | 260 | 0.0115 | -18 | c.-18 others(29): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1506 | chr14 | TogoVar | ||||||
CHD9NB_chr16_53036484_53057897 | 53051768 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(84): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0194a0001c0001t0002g0030a0001c0001t0002g0100others(32): Show | 87 | 406 | 0.2143 | -18 | c.-18 others(35): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHD9NB_chr16_53036484_53057897 | 53056003 | CCTTTTTT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0021a0001c0001t0002g0003a0001c0001t0002g0049others(19): Show | 30 | 406 | 0.0739 | -18 | c.-34 others(29): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 3107 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53051768 | AATATATA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00733.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0013others(6): Show | a0001c0001t0001g0159a0001c0001t0001g0185a0001c0001t0001g0188others(37): Show | 40 | 238 | 0.1681 | -18 | c.-34 others(29): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 3222 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53056003 | CCTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0003g0016others(17): Show | 20 | 238 | 0.0840 | -18 | c.-16 others(35): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53070516 | CCTTCCTT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(121): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0014a0001c0001t0001g0110a0001c0001t0001g0111others(121): Show | 124 | 238 | 0.5210 | -18 | c.-16 others(39): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53171861 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG03831.hp2 NA19066.hp1 others(1): Show |
a0002 | a0002c0002a0002c0019 | a0002c0002t0001a0002c0019t0001 | a0002c0002t0001g0034a0002c0002t0001g0035a0002c0002t0001g0205others(1): Show | 4 | 238 | 0.0168 | -18 | c.145 others(39): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHEK2_chr22_28682743_28746820 | 28728290 | TAAAAAGA others(11): Show |
T | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 384 | 0.0026 | -18 | c.320 others(35): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 2/14 | chr22 | TogoVar | ||||||
CHERP_chr19_16512894_16547437 | 16522777 | GACTCGAG others(11): Show |
G | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 330 | 0.0030 | -18 | c.198 others(35): Show |
CHERP | ENSG00000085872.15 | transcript | ENST00000546361.7 | protein_coding | 11/16 | chr19 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132866577 | TGTTACAA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(96): Show |
a0002a0004a0006 | a0002c0002a0002c0007a0002c0011others(3): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(36): Show | a0002c0002t0002g0009a0002c0002t0002g0045a0002c0002t0002g0046others(91): Show | 99 | 378 | 0.2619 | -18 | c.583 others(35): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 6/17 | chr12 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5918810 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 2 | 440 | 0.0046 | -18 | c.190 others(35): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CHGB_chr20_5906510_5930353 | 5926084 | TATATATA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG02273.hp1 HG02523.hp1 others(10): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0032others(4): Show | 13 | 440 | 0.0296 | -18 | c.*10 others(29): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 732 | chr20 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 252361 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG03130.hp2 HG03195.hp2 others(1): Show |
a0004a0007a0011 | a0004c0004a0007c0006a0011c0011 | a0004c0004t0001a0007c0006t0001a0011c0011t0050 | a0004c0004t0001g0044a0004c0004t0001g0045a0007c0006t0001g0043others(1): Show | 4 | 290 | 0.0138 | -18 | c.-95 others(35): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 314323 | CTATGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp2 HG02970.hp1 |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0008 | a0002c0002t0004a0003c0003t0004a0006c0008t0020 | a0002c0002t0004g0010a0003c0003t0004g0009a0006c0008t0020g0038 | 3 | 290 | 0.0103 | -18 | c.-94 others(35): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 314327 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0222 | 1 | 290 | 0.0035 | -18 | c.-94 others(35): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHMP5_chr9_33260049_33287070 | 33264394 | AGGGTCAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0035 | 2 | 328 | 0.0061 | -18 | c.-68 others(27): Show |
CHMP5 | ENSG00000086065.14 | transcript | ENST00000223500.9 | protein_coding | 654 | chr9 | TogoVar | ||||||
CHMP7_chr8_23238637_23266999 | 23250620 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | NA18963.hp2 NA19000.hp2 NA19070.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0031 | a0001c0001t0003g0152a0001c0001t0003g0153a0001c0001t0003g0154others(1): Show | 4 | 438 | 0.0091 | -18 | c.471 others(35): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHM_chrX_85856180_86052558 | 86021126 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 245 | 0.0041 | -18 | c.116 others(35): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 86026102 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG04199.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0236a0001c0001t0004g0237a0001c0002t0002g0072 | 3 | 245 | 0.0122 | -18 | c.116 others(35): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174807446 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG01891.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0057others(15): Show | 18 | 276 | 0.0652 | -18 | c.110 others(37): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29273343 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0015a0001c0002t0002g0163 | 2 | 232 | 0.0086 | -18 | c.49+ others(35): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRDL1_chrX_110668856_110800817 | 110689061 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(44): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0003a0001c0002t0004a0001c0002t0006others(7): Show | a0001c0002t0003g0001a0001c0002t0003g0004a0001c0002t0003g0018others(43): Show | 47 | 172 | 0.2733 | -18 | c.779 others(33): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689072 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG02602.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0033 | 2 | 172 | 0.0116 | -18 | c.779 others(33): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689817 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG02040.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0063 | 3 | 172 | 0.0174 | -18 | c.779 others(35): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689879 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01099.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(4): Show | a0001c0001t0001g0059a0001c0001t0001g0062a0001c0001t0001g0064others(11): Show | 14 | 172 | 0.0814 | -18 | c.779 others(35): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110697814 | CCACACAC others(11): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02886.hp2 HG02922.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0036a0001c0002t0004a0001c0002t0007others(1): Show | a0001c0001t0036g0003a0001c0002t0004g0043a0001c0002t0007g0023others(1): Show | 4 | 172 | 0.0233 | -18 | c.609 others(35): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 7/11 | chrX | TogoVar | ||||||
CHRDL2_chr11_74691429_74736426 | 74719381 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0054 | 1 | 392 | 0.0026 | -18 | c.83- others(31): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
CHRM1_chr11_62903679_62926363 | 62916320 | GAGGCAAG others(11): Show |
G | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 420 | 0.0024 | -18 | c.-79 others(35): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
CHRM1_chr11_62903679_62926363 | 62924662 | CTCTCTCT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0075 | 1 | 420 | 0.0024 | -18 | c.-35 others(29): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 3300 | chr11 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 137003473 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00609.hp1 others(72): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0012a0001c0001t0001g0168a0001c0001t0001g0170others(71): Show | 75 | 320 | 0.2344 | -18 | c.-47 others(37): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239385936 | AGTGTGTG others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01106.hp2 HG02615.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014a0001c0001t0057 | a0001c0001t0013g0085a0001c0001t0014g0095a0001c0001t0057g0084 | 3 | 116 | 0.0259 | -18 | c.-18 others(29): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 631 | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239404392 | GAAAGAAA others(11): Show |
G | intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0087 | 1 | 116 | 0.0086 | -18 | c.-52 others(39): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239766672 | TATATAGA others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01261.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0005a0001c0001t0015a0001c0001t0018others(2): Show | a0001c0001t0005g0077a0001c0001t0015g0063a0001c0001t0018g0042others(2): Show | 5 | 116 | 0.0431 | -18 | c.-14 others(39): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239874285 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0005 | a0001c0005t0048 | a0001c0005t0048g0081 | 1 | 116 | 0.0086 | -18 | c.-19 others(37): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM5_chr15_33963497_34072458 | 33994798 | CTACTCTT others(11): Show |
C | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 338 | 0.0030 | -18 | c.-40 others(39): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRM5_chr15_33963497_34072458 | 34048022 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(105): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0069others(103): Show | 108 | 338 | 0.3195 | -18 | c.-76 others(35): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA10_chr11_3660587_3676384 | 3663076 | ATCATCTC others(11): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0044 | 1 | 450 | 0.0022 | -18 | c.*30 others(29): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 2510 | chr11 | TogoVar |