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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFD_chr19_854664_868641 | 864060 | A | ACACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG01257.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0040 others(1): Show |
5 | 287 | 0.0174 | 8 | c.*82 others(17): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 420 | chr19 | TogoVar | |||||||
CFD_chr19_854664_868641 | 864060 | A | ACACACGC others(1): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0068 a0001c0001t0001g0071 |
5 | 287 | 0.0174 | 8 | c.*82 others(17): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 420 | chr19 | TogoVar | |||||||
CFHR1_chr1_196814731_196837189 | 196824748 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG00639.hp2 others(22): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0002a0001c0003t0002a0002c0001t0001 | a0001c0002t0002g0011 a0001c0002t0002g0015 a0001c0002t0002g0021 others(11): Show |
25 | 275 | 0.0909 | 8 | c.59- others(21): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR1_chr1_196814731_196837189 | 196832784 | A | ATGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG03486.hp1 NA19240.hp1 |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0016 | 3 | 275 | 0.0109 | 8 | c.*78 others(17): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 596 | chr1 | TogoVar | |||||||
CFHR2_chr1_196938738_196964622 | 196945777 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 HG03669.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0091 a0001c0001t0001g0098 |
6 | 370 | 0.0162 | 8 | c.58+ others(23): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR3_chr1_196769840_196800407 | 196795322 | T | TACTCATT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02523.hp1 NA18945.hp1 NA18969.hp1 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0010 | 5 | 261 | 0.0192 | 8 | c.*18 others(19): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 6/6 | 1820 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR5_chr1_196972556_197014678 | 196979256 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01192.hp1 others(29): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0003a0001c0001t0007a0002c0002t0001others(2): Show | a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 others(23): Show |
32 | 356 | 0.0899 | 8 | c.58+ others(23): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR5_chr1_196972556_197014678 | 196999722 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0087 |
3 | 356 | 0.0084 | 8 | c.114 others(27): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196671587 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG01106.hp1 others(9): Show |
a0001 | a0001c0001a0001c0010a0001c0019 | a0001c0001t0001a0001c0010t0001a0001c0019t0001 | a0001c0001t0001g0068 a0001c0001t0001g0198 a0001c0001t0001g0199 others(9): Show |
12 | 308 | 0.0390 | 8 | c.59- others(23): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196692761 | T | TCTCTTTC others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02647.hp1 others(2): Show |
a0001a0004a0010 | a0001c0001a0004c0004a0010c0011 | a0001c0001t0001a0004c0004t0001a0010c0011t0001 | a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0302 others(2): Show |
5 | 308 | 0.0162 | 8 | c.133 others(27): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196692876 | C | CACCTACC others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01109.hp2 others(35): Show |
a0001a0004a0008others(2): Show | a0001c0001a0001c0008a0004c0004others(3): Show | a0001c0001t0001a0001c0008t0001a0004c0004t0001others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0037 others(35): Show |
38 | 308 | 0.1234 | 8 | c.133 others(27): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196693955 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01361.hp1 HG01884.hp2 others(27): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0008a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0008t0001others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0052 others(27): Show |
30 | 308 | 0.0974 | 8 | c.133 others(27): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714635 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01167.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0097 a0003c0003t0001g0099 a0003c0003t0001g0100 others(1): Show |
4 | 308 | 0.0130 | 8 | c.151 others(25): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714668 | T | TATATAGA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01433.hp1 HG02257.hp2 others(2): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0223 a0001c0001t0001g0305 a0003c0003t0001g0157 others(2): Show |
5 | 308 | 0.0162 | 8 | c.151 others(25): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714701 | A | AGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01175.hp1 HG01255.hp2 others(17): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0019a0004c0004others(2): Show | a0001c0001t0001a0001c0019t0001a0004c0004t0001others(2): Show | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0133 others(17): Show |
20 | 308 | 0.0649 | 8 | c.151 others(25): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196748079 | G | GTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02896.hp2 others(2): Show |
a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0001 a0007c0007t0002g0022 a0007c0007t0002g0024 others(1): Show |
5 | 308 | 0.0162 | 8 | c.*76 others(17): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 576 | chr1 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109752965 | T | TATGAATA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01256.hp1 HG03017.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0165 others(14): Show |
17 | 354 | 0.0480 | 8 | c.905 others(23): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109753265 | A | ATTTATTA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01261.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0017 a0001c0001t0001g0160 a0001c0001t0001g0218 others(21): Show |
24 | 354 | 0.0678 | 8 | c.905 others(23): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109753296 | A | ATTTATTA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00609.hp1 others(67): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 others(67): Show |
70 | 354 | 0.1977 | 8 | c.905 others(23): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109753355 | A | ATTTATTA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp2 HG03486.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0018 a0001c0001t0001g0187 a0001c0001t0001g0194 others(6): Show |
9 | 354 | 0.0254 | 8 | c.905 others(23): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109756888 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01106.hp2 others(11): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0220 a0001c0001t0001g0289 a0001c0001t0001g0292 others(11): Show |
14 | 354 | 0.0396 | 8 | c.904 others(23): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109783812 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02258.hp1 NA18991.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 a0001c0002t0001g0104 a0001c0002t0001g0105 |
3 | 354 | 0.0085 | 8 | c.58- others(25): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CFL2_chr14_34704113_34719593 | 34718777 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01496.hp2 HG01884.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0014others(2): Show | a0001c0001t0005g0005 a0001c0001t0005g0017 a0001c0001t0011g0011 others(3): Show |
11 | 431 | 0.0255 | 8 | c.-42 others(19): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4185 | chr14 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201114013 | G | GATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG01257.hp1 HG01884.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0005g0162 others(4): Show |
7 | 234 | 0.0299 | 8 | c.-26 others(19): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2150 | chr2 | TogoVar | |||||||
CFTR_chr7_117475025_117673665 | 117490312 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | NA19070.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0067 a0001c0001t0005g0066 |
2 | 202 | 0.0099 | 8 | c.53+ others(25): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117499429 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(6): Show |
a0001a0015 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0004a0001c0003t0003a0001c0004t0002others(1): Show | a0001c0001t0004g0138 a0001c0003t0003g0021 a0001c0003t0003g0141 others(6): Show |
9 | 202 | 0.0446 | 8 | c.54- others(23): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117518569 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 |
3 | 202 | 0.0149 | 8 | c.273 others(25): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117558553 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG01243.hp2 others(46): Show |
a0001a0012 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(9): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 others(46): Show |
49 | 202 | 0.2426 | 8 | c.139 others(25): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117566248 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0003t0003a0001c0004t0001 | a0001c0001t0002g0004 a0001c0003t0003g0145 a0001c0004t0001g0006 others(2): Show |
5 | 202 | 0.0248 | 8 | c.158 others(27): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117573036 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01496.hp1 HG02818.hp2 others(6): Show |
a0001a0004a0012 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0002a0001c0004t0003a0001c0005t0003others(2): Show | a0001c0001t0002g0046 a0001c0001t0002g0151 a0001c0001t0002g0195 others(6): Show |
9 | 202 | 0.0446 | 8 | c.158 others(29): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117612017 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02080.hp2 HG02165.hp2 others(1): Show |
a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0002a0009c0012t0002 | a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0055 others(1): Show |
4 | 202 | 0.0198 | 8 | c.336 others(25): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117612023 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | NA18993.hp2 NA19010.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0071 a0002c0002t0001g0097 |
2 | 202 | 0.0099 | 8 | c.336 others(25): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117612234 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(35): Show |
a0001a0002a0007others(1): Show | a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0003t0003a0001c0004t0002a0001c0004t0003others(7): Show | a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 others(34): Show |
38 | 202 | 0.1881 | 8 | c.336 others(25): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117638736 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02145.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0002a0001c0003t0003a0001c0006t0003 | a0001c0001t0002g0195 a0001c0003t0003g0180 a0001c0003t0003g0181 others(2): Show |
5 | 202 | 0.0248 | 8 | c.371 others(27): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73427278 | C | CTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(7): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0006a0001c0002t0007a0001c0002t0013others(3): Show | a0001c0002t0006g0125 a0001c0002t0007g0050 a0001c0002t0007g0051 others(7): Show |
10 | 410 | 0.0244 | 8 | c.121 others(27): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73449476 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01255.hp2 others(47): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0006others(5): Show | a0001c0002t0006a0001c0002t0008a0001c0003t0001others(15): Show | a0001c0002t0006g0118 a0001c0002t0006g0120 a0001c0002t0006g0121 others(42): Show |
50 | 410 | 0.1220 | 8 | c.657 others(25): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01070.hp2 HG01099.hp1 others(21): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0005others(1): Show | a0001c0002t0006a0001c0002t0007a0001c0002t0008others(12): Show | a0001c0002t0006g0317 a0001c0002t0007g0071 a0001c0002t0007g0080 others(21): Show |
24 | 410 | 0.0585 | 8 | c.-13 others(19): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | |||||||
CGB3_chr19_49017869_49029333 | 49021572 | A | AGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(133): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0003g0003 others(15): Show |
136 | 391 | 0.3478 | 8 | c.*13 others(19): Show |
CGB3 | ENSG00000104827.12 | transcript | ENST00000357383.4 | protein_coding | 1296 | chr19 | TogoVar | |||||||
CGB7_chr19_49049274_49062749 | 49060036 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG01175.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0002g0003 a0001c0001t0008g0014 a0001c0001t0009g0015 others(4): Show |
23 | 422 | 0.0545 | 8 | c.-39 others(19): Show |
CGB7 | ENSG00000196337.14 | transcript | ENST00000684222.1 | protein_coding | 2288 | chr19 | TogoVar | |||||||
CGGBP1_chr3_88046950_88064005 | 88050344 | A | ATTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(16): Show |
87 | 358 | 0.2430 | 8 | c.*51 others(19): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 1605 | chr3 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57383292 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02630.hp1 HG02818.hp1 others(9): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0003others(7): Show | a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0100 others(9): Show |
12 | 294 | 0.0408 | 8 | c.-16 others(25): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57409037 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(41): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0044 a0001c0001t0001g0078 a0001c0001t0001g0126 others(40): Show |
44 | 294 | 0.1497 | 8 | c.-15 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57413206 | T | TCTCTCTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(149): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0011a0002c0002others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(45): Show | a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0065 others(148): Show |
152 | 294 | 0.5170 | 8 | c.-15 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57413221 | T | TCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02486.hp2 others(8): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0002a0006c0007others(3): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0007others(6): Show | a0001c0001t0001g0190 a0001c0001t0004g0120 a0002c0002t0007g0259 others(8): Show |
11 | 294 | 0.0374 | 8 | c.-15 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57470256 | C | CTCTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01255.hp1 HG02071.hp1 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0019a0001c0005t0001others(11): Show | a0001c0001t0001g0087 a0001c0001t0019g0160 a0001c0005t0001g0245 others(15): Show |
18 | 294 | 0.0612 | 8 | c.240 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57470256 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG00741.hp2 others(26): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0049 a0001c0001t0001g0080 a0001c0001t0001g0139 others(26): Show |
29 | 294 | 0.0986 | 8 | c.240 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57481064 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01074.hp2 others(8): Show |
a0001a0002a0005 | a0001c0001a0001c0015a0002c0002others(2): Show | a0001c0001t0004a0001c0015t0001a0002c0002t0003others(2): Show | a0001c0001t0004g0021 a0001c0015t0001g0022 a0002c0002t0003g0117 others(8): Show |
11 | 294 | 0.0374 | 8 | c.240 others(29): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57513253 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02895.hp2 HG02897.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0010a0001c0001t0021others(3): Show | a0001c0001t0001g0190 a0001c0001t0010g0054 a0001c0001t0021g0116 others(3): Show |
6 | 294 | 0.0204 | 8 | c.240 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57529559 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02572.hp2 HG02630.hp2 others(5): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0005a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0005t0001others(3): Show | a0001c0001t0001g0044 a0001c0001t0001g0268 a0001c0001t0010g0054 others(5): Show |
8 | 294 | 0.0272 | 8 | c.320 others(25): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57543223 | C | CCCAGAGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(98): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0011others(21): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(45): Show | a0001c0001t0002g0001 a0001c0001t0002g0042 a0001c0001t0002g0070 others(97): Show |
101 | 294 | 0.3435 | 8 | c.329 others(25): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 14/18 | chr15 | TogoVar |