| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CLVS1_chr8_61282970_61506629 | 61357494 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03516.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0018 | a0001c0001t0009g0012a0001c0001t0009g0013a0001c0001t0018g0011 | 3 | 184 | 0.0163 | -13 | c.456 others(32): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CLVS2_chr6_122991235_123077925 | 123057334 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02897.hp2 HG06807.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(4): Show | a0001c0001t0001g0065a0001c0001t0006g0193a0001c0001t0011g0064others(4): Show | 7 | 336 | 0.0208 | -13 | c.896 others(30): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CLYBL_chr13_99601690_99897570 | 99608847 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02280.hp1 others(15): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(15): Show | 18 | 218 | 0.0826 | -13 | c.62+ others(28): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CLYBL_chr13_99601690_99897570 | 99644204 | ATGTGTAT others(6): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG01433.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0051a0001c0001t0001g0114a0001c0001t0001g0115others(2): Show | 5 | 218 | 0.0229 | -13 | c.62+ others(30): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CLYBL_chr13_99601690_99897570 | 99748429 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 218 | 0.0046 | -13 | c.63- others(30): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CLYBL_chr13_99601690_99897570 | 99768516 | TTTTTTTT others(6): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(36): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0062others(36): Show | 39 | 218 | 0.1789 | -13 | c.63- others(28): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | chr13 | TogoVar | ||||||
| CLYBL_chr13_99601690_99897570 | 99771020 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG03130.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0053a0001c0001t0001g0078a0001c0001t0001g0084others(2): Show | 5 | 218 | 0.0229 | -13 | c.63- others(28): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CLYBL_chr13_99601690_99897570 | 99833030 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 218 | 0.0046 | -13 | c.250 others(32): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CMAS_chr12_22041218_22070668 | 22041945 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0195a0001c0001t0004g0047a0001c0001t0004g0176others(3): Show | 7 | 450 | 0.0156 | -13 | c.-43 others(24): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 4272 | chr12 | TogoVar | ||||||
| CMAS_chr12_22041218_22070668 | 22041970 | AAAAAAAA others(6): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(105): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0123a0001c0001t0001g0145a0001c0001t0001g0212others(61): Show | 108 | 450 | 0.2400 | -13 | c.-43 others(24): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 4247 | chr12 | TogoVar | ||||||
| CMAS_chr12_22041218_22070668 | 22053400 | CATATACA others(6): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 450 | 0.0022 | -13 | c.261 others(30): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CMAS_chr12_22041218_22070668 | 22057225 | TTACACAC others(6): Show |
T | intron_variant | MODIFIER | NA18974.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0236 | 1 | 450 | 0.0022 | -13 | c.560 others(30): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 3/7 | chr12 | TogoVar | ||||||
| CMBL_chr5_10272595_10312902 | 10303520 | GAACGACA others(6): Show |
G | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0210 | 1 | 350 | 0.0029 | -13 | c.-20 others(30): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 1/5 | chr5 | TogoVar | ||||||
| CMBL_chr5_10272595_10312902 | 10312700 | CTAGTTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 350 | 0.0029 | -13 | c.-51 others(24): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 4799 | chr5 | TogoVar | ||||||
| CMC1_chr3_28236619_28330142 | 28326075 | TATCTCAT others(6): Show |
T | downstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 338 | 0.0030 | -13 | c.*64 others(24): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 934 | chr3 | TogoVar | ||||||
| CMC2_chr16_80961448_81011885 | 80994056 | AATTGATT others(6): Show |
A | intron_variant | MODIFIER | HG01433.hp2 NA21309.hp1 |
a0002 | a0002c0002 | a0002c0002t0062a0002c0002t0063 | a0002c0002t0062g0164a0002c0002t0063g0163 | 2 | 408 | 0.0049 | -13 | c.81+ others(28): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
| CMIP_chr16_81439808_81716762 | 81470290 | ATCCAGGC others(6): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0060 | 2 | 268 | 0.0075 | -13 | c.300 others(32): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CMIP_chr16_81439808_81716762 | 81504690 | GTGGGCCT others(6): Show |
G | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 268 | 0.0037 | -13 | c.300 others(32): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
| CMKLR2_chr2_206170316_206218371 | 206172692 | AGGGAGAG others(6): Show |
A | downstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 322 | 0.0031 | -13 | c.*34 others(24): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2623 | chr2 | TogoVar | ||||||
| CMKLR2_chr2_206170316_206218371 | 206172711 | AGGGAGAG others(6): Show |
A | downstream_gene_variant | MODIFIER | HG03239.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0219 | 2 | 322 | 0.0062 | -13 | c.*34 others(24): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2604 | chr2 | TogoVar | ||||||
| CMKLR2_chr2_206170316_206218371 | 206172810 | AGGGAGAG others(6): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01123.hp2 HG01175.hp1 others(6): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0007 | a0001c0001t0001a0001c0001t0002a0002c0003t0003others(1): Show | a0001c0001t0001g0114a0001c0001t0001g0121a0001c0001t0001g0267others(6): Show | 9 | 322 | 0.0280 | -13 | c.*33 others(24): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2505 | chr2 | TogoVar | ||||||
| CMKLR2_chr2_206170316_206218371 | 206173024 | AGGGAGAG others(6): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(72): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0007others(4): Show | a0001c0001t0002g0292a0002c0002t0001g0015a0002c0002t0001g0017others(72): Show | 75 | 322 | 0.2329 | -13 | c.*31 others(24): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2291 | chr2 | TogoVar | ||||||
| CMKLR2_chr2_206170316_206218371 | 206173094 | AGGGAGAG others(6): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01123.hp2 HG01257.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0007 | a0001c0001t0001a0002c0003t0003a0005c0007t0001 | a0001c0001t0001g0267a0001c0001t0001g0289a0001c0001t0001g0290others(3): Show | 6 | 322 | 0.0186 | -13 | c.*30 others(24): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2221 | chr2 | TogoVar | ||||||
| CMKLR2_chr2_206170316_206218371 | 206174106 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01099.hp1 others(23): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0223a0002c0002t0001g0046a0002c0002t0001g0134others(21): Show | 26 | 322 | 0.0808 | -13 | c.*20 others(24): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1209 | chr2 | TogoVar | ||||||
| CMKLR2_chr2_206170316_206218371 | 206179055 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 HG01257.hp1 others(6): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0002a0005c0007t0001 | a0001c0001t0001g0114a0001c0001t0001g0121a0001c0001t0001g0267others(6): Show | 9 | 322 | 0.0280 | -13 | c.-28 others(30): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
| CMPK1_chr1_47328790_47383839 | 47375429 | GCTCATGC others(6): Show |
G | intron_variant | MODIFIER | NA19072.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0200 | 1 | 364 | 0.0028 | -13 | c.645 others(28): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 5/5 | chr1 | TogoVar | ||||||
| CMSS1_chr3_99812862_100186732 | 100074675 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0121 | 1 | 232 | 0.0043 | -13 | c.65- others(30): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CMSS1_chr3_99812862_100186732 | 100155871 | TCTTTTTT others(6): Show |
T | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 232 | 0.0043 | -13 | c.154 others(30): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CMSS1_chr3_99812862_100186732 | 100174629 | AAGAGAAT others(6): Show |
A | intron_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0128 | 1 | 232 | 0.0043 | -13 | c.668 others(30): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CMTM7_chr3_32386853_32460528 | 32404149 | TTTCTTTT others(6): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0038others(67): Show | 72 | 368 | 0.1957 | -13 | c.159 others(32): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CMTM7_chr3_32386853_32460528 | 32442498 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044 | 1 | 368 | 0.0027 | -13 | c.333 others(28): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CMTM8_chr3_32233680_32375321 | 32254293 | ATAATTGC others(6): Show |
A | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 344 | 0.0029 | -13 | c.147 others(32): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CMTM8_chr3_32233680_32375321 | 32279166 | GATTTTTT others(6): Show |
G | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 344 | 0.0029 | -13 | c.147 others(32): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CNBD1_chr8_86861415_87387859 | 86894035 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 152 | 0.0066 | -13 | c.158 others(30): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CNBD1_chr8_86861415_87387859 | 87256007 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 152 | 0.0066 | -13 | c.771 others(32): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CNBD2_chr20_35963590_36035700 | 35993867 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0245 | 1 | 268 | 0.0037 | -13 | c.856 others(30): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CNGA1_chr4_47930977_48021681 | 47942415 | TAAAGAGA others(6): Show |
T | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 366 | 0.0027 | -13 | c.438 others(28): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 8/10 | chr4 | TogoVar | ||||||
| CNGA3_chr2_98341456_98403601 | 98398151 | ATTAGGAA others(6): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0001 | 1 | 338 | 0.0030 | -13 | c.*89 others(22): Show |
CNGA3 | ENSG00000144191.12 | transcript | ENST00000272602.7 | protein_coding | 8/8 | 899 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
| CNGB3_chr8_86569179_86748634 | 86600776 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0188 | 1 | 288 | 0.0035 | -13 | c.178 others(32): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 15/17 | chr8 | TogoVar | ||||||
| CNIH2_chr11_66273175_66289206 | 66277333 | CTGGGCTG others(6): Show |
C | upstream_gene_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 420 | 0.0024 | -13 | c.-11 others(24): Show |
CNIH2 | ENSG00000174871.11 | transcript | ENST00000311445.7 | protein_coding | 841 | chr11 | TogoVar | ||||||
| CNIH2_chr11_66273175_66289206 | 66281696 | ATGAAACC others(6): Show |
A | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 420 | 0.0024 | -13 | c.82- others(26): Show |
CNIH2 | ENSG00000174871.11 | transcript | ENST00000311445.7 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| CNIH3_chr1_224611317_224745554 | 224674272 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp1 HG02647.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0014others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0171a0001c0001t0001g0172others(5): Show | 10 | 358 | 0.0279 | -13 | c.82- others(28): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CNKSR2_chrX_21369418_21659689 | 21477756 | AGGATGTG others(6): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0140 | 1 | 163 | 0.0061 | -13 | c.561 others(30): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 5/21 | chrX | TogoVar | ||||||
| CNKSR3_chr6_154382515_154515685 | 154409202 | TTTGGAAG others(6): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0133 | a0001c0002t0133g0167 | 1 | 342 | 0.0029 | -13 | c.136 others(32): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 12/12 | chr6 | TogoVar | ||||||
| CNN3_chr1_94891957_94932110 | 94918494 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(87): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0164a0001c0001t0001g0177a0001c0001t0001g0179others(58): Show | 90 | 426 | 0.2113 | -13 | c.57+ others(28): Show |
CNN3 | ENSG00000117519.16 | transcript | ENST00000370206.9 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
| CNNM1_chr10_99324356_99399330 | 99331495 | TAGACTAA others(6): Show |
T | intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0007 | 1 | 320 | 0.0031 | -13 | c.157 others(30): Show |
CNNM1 | ENSG00000119946.12 | transcript | ENST00000356713.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CNNM1_chr10_99324356_99399330 | 99359004 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0191a0001c0001t0001g0193a0001c0001t0001g0295others(2): Show | 5 | 320 | 0.0156 | -13 | c.171 others(32): Show |
CNNM1 | ENSG00000119946.12 | transcript | ENST00000356713.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CNNM2_chr10_102913294_103095222 | 102958459 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG03098.hp2 HG04115.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0003t0001 | a0001c0001t0012g0020a0001c0003t0001g0159 | 2 | 270 | 0.0074 | -13 | c.162 others(34): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CNNM4_chr2_96755902_96816874 | 96765024 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp1 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0251a0001c0001t0004g0079a0001c0001t0004g0123others(5): Show | 8 | 270 | 0.0296 | -13 | c.140 others(32): Show |
CNNM4 | ENSG00000158158.12 | transcript | ENST00000377075.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNNM4_chr2_96755902_96816874 | 96774960 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0235 | 1 | 270 | 0.0037 | -13 | c.140 others(34): Show |
CNNM4 | ENSG00000158158.12 | transcript | ENST00000377075.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |