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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLSTN2_chr3_139930185_140582397 | 140240138 | CTCTCTCT others(7): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp1 |
a0001a0002 | a0001c0001a0002c0023 | a0001c0001t0006a0002c0023t0010 | a0001c0001t0006g0025a0002c0023t0010g0104 | 2 | 110 | 0.0182 | -14 | c.232 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140240211 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02809.hp1 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0048a0001c0001t0002g0105a0001c0001t0005g0026others(8): Show | 11 | 110 | 0.1000 | -14 | c.232 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140264375 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 110 | 0.0091 | -14 | c.232 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140311287 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01243.hp1 NA18977.hp1 |
a0001a0002 | a0001c0008a0002c0004 | a0001c0008t0016a0002c0004t0001 | a0001c0008t0016g0051a0002c0004t0001g0072 | 2 | 110 | 0.0182 | -14 | c.233 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140402898 | GCTAAACT others(7): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0021 | a0002c0021t0009 | a0002c0021t0009g0030 | 1 | 110 | 0.0091 | -14 | c.233 others(29): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140418503 | TTCTTTCT others(7): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01496.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(11): Show | a0001c0001t0001g0048a0001c0001t0001g0076a0001c0001t0001g0093others(17): Show | 20 | 110 | 0.1818 | -14 | c.638 others(31): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140419520 | CATATGTG others(7): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0092 | 1 | 110 | 0.0091 | -14 | c.638 others(31): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140448209 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0011 | 1 | 110 | 0.0091 | -14 | c.788 others(29): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN3_chr12_7125371_7163945 | 7131898 | ATCAGGGT others(7): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02040.hp2 |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0001a0010c0012t0001 | a0001c0001t0001g0032a0010c0012t0001g0031 | 2 | 394 | 0.0051 | -14 | c.65- others(29): Show |
CLSTN3 | ENSG00000139182.15 | transcript | ENST00000266546.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CLUH_chr17_2684387_2716764 | 2685622 | ATTTTTTT others(7): Show |
A | downstream_gene_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG00741.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0002others(3): Show | a0001c0001t0001g0138a0001c0001t0001g0157a0001c0001t0001g0201others(9): Show | 14 | 420 | 0.0333 | -14 | c.*49 others(25): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 3764 | chr17 | TogoVar | ||||||
CLUH_chr17_2684387_2716764 | 2691925 | CCCCGTGC others(7): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(72): Show |
a0001a0002a0013others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0014others(11): Show | a0001c0001t0001g0006a0001c0001t0001g0027a0001c0001t0001g0144others(48): Show | 75 | 420 | 0.1786 | -14 | c.365 others(29): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 23/25 | chr17 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 626964 | AAGGAAGG others(7): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0106a0001c0001t0003g0114a0001c0001t0003g0115others(1): Show | 4 | 414 | 0.0097 | -14 | c.424 others(29): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 626972 | AAGGAAGG others(7): Show |
A | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0369 | 1 | 414 | 0.0024 | -14 | c.424 others(29): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 633687 | TATTGGCT others(7): Show |
T | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0319 | 1 | 414 | 0.0024 | -14 | c.994 others(29): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 7/9 | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 645810 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00621.hp1 others(50): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0042a0001c0001t0001g0067others(49): Show | 53 | 414 | 0.1280 | -14 | c.139 others(31): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61338964 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0085a0001c0001t0001g0087a0001c0001t0001g0120others(1): Show | 4 | 184 | 0.0217 | -14 | c.456 others(33): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61347626 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG01346.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0066a0001c0001t0001g0096a0001c0001t0001g0104others(26): Show | 29 | 184 | 0.1576 | -14 | c.456 others(33): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61357494 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02451.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0005a0001c0001t0002g0007a0001c0001t0002g0095others(8): Show | 11 | 184 | 0.0598 | -14 | c.456 others(33): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99608061 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01257.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0161a0001c0001t0001g0162a0001c0001t0001g0164others(2): Show | 5 | 218 | 0.0229 | -14 | c.62+ others(29): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99608847 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00673.hp2 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0125others(32): Show | 35 | 218 | 0.1606 | -14 | c.62+ others(29): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99620824 | GAAAGAAA others(7): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02647.hp1 others(10): Show |
a0001a0002a0008 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(10): Show | 13 | 218 | 0.0596 | -14 | c.62+ others(31): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99674142 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 218 | 0.0046 | -14 | c.62+ others(31): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99716169 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG03139.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0061 | 2 | 218 | 0.0092 | -14 | c.63- others(31): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99718816 | CAGTCACT others(7): Show |
C | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 218 | 0.0046 | -14 | c.63- others(31): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99748429 | GTTTTTTT others(7): Show |
G | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 218 | 0.0046 | -14 | c.63- others(31): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99752607 | CCCTCCTG others(7): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG02559.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018a0002c0002t0001g0019 | 2 | 218 | 0.0092 | -14 | c.63- others(31): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99768515 | TTTTTTTT others(7): Show |
T | intron_variant | MODIFIER | HG01975.hp2 HG02165.hp1 HG02451.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0097a0001c0001t0001g0181others(3): Show | 6 | 218 | 0.0275 | -14 | c.63- others(29): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99818446 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 218 | 0.0046 | -14 | c.250 others(33): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99819416 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01106.hp2 HG01169.hp2 others(14): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0017a0001c0001t0001g0036a0001c0001t0001g0064others(14): Show | 17 | 218 | 0.0780 | -14 | c.250 others(33): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CMAS_chr12_22041218_22070668 | 22041969 | AAAAAAAA others(7): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG01109.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0018others(17): Show | 30 | 450 | 0.0667 | -14 | c.-43 others(25): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 4248 | chr12 | TogoVar | ||||||
CMAS_chr12_22041218_22070668 | 22054389 | CGGTTAAT others(7): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp2 others(97): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0050a0001c0001t0001g0057a0001c0001t0001g0060others(81): Show | 100 | 450 | 0.2222 | -14 | c.261 others(29): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
CMAS_chr12_22041218_22070668 | 22057225 | TTACACAC others(7): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006a0001c0001t0001g0187a0001c0001t0001g0208others(2): Show | 11 | 450 | 0.0244 | -14 | c.560 others(31): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CMC1_chr3_28236619_28330142 | 28309941 | CCACACAC others(7): Show |
C | intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 338 | 0.0030 | -14 | c.110 others(31): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMC2_chr16_80961448_81011885 | 80965188 | AAAAAAAA others(7): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0098 | a0002c0002t0098g0302 | 1 | 408 | 0.0025 | -14 | c.*10 others(27): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1259 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965196 | AAAAAACA others(7): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02615.hp2 |
a0002 | a0002c0002 | a0002c0002t0023a0002c0002t0096 | a0002c0002t0023g0027a0002c0002t0096g0108 | 2 | 408 | 0.0049 | -14 | c.*10 others(27): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1251 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965198 | AAAACATA others(7): Show |
A | downstream_gene_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0104 | 1 | 408 | 0.0025 | -14 | c.*10 others(27): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1249 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965202 | CATATATA others(7): Show |
C | downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0126 | a0001c0001t0126g0235 | 1 | 408 | 0.0025 | -14 | c.*10 others(27): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1245 | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81629134 | TAAAAAAA others(7): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0171a0001c0001t0001g0184a0001c0001t0004g0005others(2): Show | 5 | 268 | 0.0187 | -14 | c.477 others(31): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81667787 | AGAGAGAG others(7): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01934.hp1 HG02135.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0133a0001c0001t0001g0139a0001c0001t0001g0247others(4): Show | 7 | 268 | 0.0261 | -14 | c.826 others(31): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81667789 | AGAGAGAG others(7): Show |
A | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0076 | 1 | 268 | 0.0037 | -14 | c.826 others(31): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81667791 | AGAGAGAG others(7): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02809.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0009a0001c0001t0001g0118a0001c0001t0001g0123others(2): Show | 5 | 268 | 0.0187 | -14 | c.826 others(31): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81667793 | AGAGAGAG others(7): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02622.hp2 NA18984.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0002g0223a0001c0001t0006g0126a0001c0001t0007g0234others(1): Show | 4 | 268 | 0.0149 | -14 | c.826 others(31): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMKLR1_chr12_108283046_108344311 | 108333227 | TGTCCTAT others(7): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(116): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0004c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0018others(108): Show | 119 | 400 | 0.2975 | -14 | c.-28 others(33): Show |
CMKLR1 | ENSG00000174600.14 | transcript | ENST00000550402.6 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206173024 | AGGGAGAG others(7): Show |
A | downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 322 | 0.0031 | -14 | c.*31 others(25): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2291 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206174106 | CTTTTTTT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00639.hp2 others(29): Show |
a0002a0006 | a0002c0002a0002c0003a0002c0004others(1): Show | a0002c0002t0001a0002c0003t0001a0002c0004t0001others(1): Show | a0002c0002t0001g0030a0002c0002t0001g0031a0002c0002t0001g0038others(29): Show | 32 | 322 | 0.0994 | -14 | c.*20 others(25): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1209 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206179055 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02135.hp1 HG02630.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0289 | 3 | 322 | 0.0093 | -14 | c.-28 others(31): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206207728 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG00741.hp1 others(18): Show |
a0001a0002a0008 | a0001c0001a0002c0003a0008c0010 | a0001c0001t0001a0002c0003t0003a0008c0010t0003 | a0001c0001t0001g0235a0002c0003t0003g0001a0002c0003t0003g0232others(15): Show | 21 | 322 | 0.0652 | -14 | c.-29 others(31): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
CMPK2_chr2_6843316_6870907 | 6861093 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG03130.hp1 HG03453.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0009others(1): Show | a0001c0001t0001a0001c0004t0003a0001c0004t0004others(2): Show | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(4): Show | 7 | 392 | 0.0179 | -14 | c.992 others(27): Show |
CMPK2 | ENSG00000134326.12 | transcript | ENST00000256722.10 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99817362 | GGGCGAGC others(7): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(148): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0008a0001c0001t0001g0020a0001c0001t0001g0021others(148): Show | 151 | 232 | 0.6509 | -14 | c.-61 others(23): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 499 | chr3 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99872269 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG01261.hp2 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198a0001c0001t0001g0199 | 2 | 232 | 0.0086 | -14 | c.64+ others(31): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |