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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFDP1_chr16_75288710_75438503 | 75349678 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 314 | 0.0032 | 14 | c.651 others(33): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349682 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 314 | 0.0032 | 14 | c.651 others(33): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349698 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 314 | 0.0032 | 14 | c.651 others(33): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349698 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0167 others(4): Show |
7 | 314 | 0.0223 | 14 | c.651 others(33): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75363942 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01109.hp2 others(24): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0001a0001c0001t0002a0002c0003t0002others(1): Show | a0001c0001t0001g0286 a0001c0001t0002g0147 a0001c0001t0002g0153 others(24): Show |
27 | 314 | 0.0860 | 14 | c.650 others(33): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75384852 | C | CAATATAT others(7): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 314 | 0.0032 | 14 | c.650 others(33): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75436131 | G | GAGTGAAT others(7): Show |
upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 314 | 0.0032 | 14 | c.-27 others(25): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 2629 | chr16 | TogoVar | |||||||
CFD_chr19_854664_868641 | 862357 | A | AGAGGGTT others(7): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03239.hp1 HG03688.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 a0001c0001t0002g0060 |
4 | 287 | 0.0139 | 14 | c.615 others(29): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CFD_chr19_854664_868641 | 864042 | C | CCACACAC others(7): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 NA18959.hp2 NA18971.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0002 a0001c0001t0004g0005 |
4 | 287 | 0.0139 | 14 | c.*80 others(23): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 402 | chr19 | TogoVar | |||||||
CFD_chr19_854664_868641 | 864060 | A | ACACACAC others(7): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG02132.hp1 HG02257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(1): Show |
6 | 287 | 0.0209 | 14 | c.*82 others(23): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 420 | chr19 | TogoVar | |||||||
CFD_chr19_854664_868641 | 864060 | A | ACACACAC others(7): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02055.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0034 others(2): Show |
7 | 287 | 0.0244 | 14 | c.*82 others(23): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 420 | chr19 | TogoVar | |||||||
CFHR1_chr1_196814731_196837189 | 196824748 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02015.hp1 HG02056.hp2 others(12): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0031 a0001c0003t0002g0004 a0001c0003t0002g0040 others(1): Show |
15 | 275 | 0.0546 | 14 | c.59- others(27): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR3_chr1_196769840_196800407 | 196772694 | G | GTATATAT others(7): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 NA21309.hp1 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0009 | a0002c0001t0002g0054 a0002c0001t0009g0003 |
2 | 261 | 0.0077 | 14 | c.-21 others(25): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 2145 | chr1 | TogoVar | |||||||
CFHR4_chr1_196883052_196923633 | 196885599 | T | TATATATA others(7): Show |
upstream_gene_variant | MODIFIER | HG02897.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 | 1 | 350 | 0.0029 | 14 | c.-25 others(25): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 2452 | chr1 | TogoVar | |||||||
CFHR4_chr1_196883052_196923633 | 196885599 | T | TATATATA others(7): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 NA18944.hp1 NA18966.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0056 |
5 | 350 | 0.0143 | 14 | c.-25 others(25): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 2452 | chr1 | TogoVar | |||||||
CFHR4_chr1_196883052_196923633 | 196885599 | T | TATATATA others(7): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 NA18967.hp1 NA18998.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 3 | 350 | 0.0086 | 14 | c.-25 others(25): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 2452 | chr1 | TogoVar | |||||||
CFHR5_chr1_196972556_197014678 | 197013558 | C | CATGATAA others(7): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 356 | 0.0028 | 14 | c.*48 others(25): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 3881 | chr1 | TogoVar | |||||||
CFH_chr1_196647043_196752504 | 196658407 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 308 | 0.0033 | 14 | c.58+ others(29): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196671587 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0210 | 1 | 308 | 0.0033 | 14 | c.59- others(29): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196693955 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02735.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0070 a0004c0004t0001g0139 |
2 | 308 | 0.0065 | 14 | c.133 others(33): 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(7): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02004.hp1 |
a0003a0008 | a0003c0003a0008c0009 | a0003c0003t0001a0008c0009t0001 | a0003c0003t0001g0091 a0008c0009t0001g0127 |
2 | 308 | 0.0065 | 14 | c.151 others(31): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714666 | T | TAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0074 a0003c0003t0001g0184 |
2 | 308 | 0.0065 | 14 | c.151 others(31): 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(7): Show |
intron_variant | MODIFIER | HG03834.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 a0001c0001t0001g0283 |
2 | 308 | 0.0065 | 14 | c.151 others(31): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714668 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03490.hp1 HG03492.hp2 others(1): Show |
a0001a0014 | a0001c0001a0014c0026 | a0001c0001t0001a0014c0026t0001 | a0001c0001t0001g0211 a0001c0001t0001g0278 a0001c0001t0001g0282 others(1): Show |
4 | 308 | 0.0130 | 14 | c.151 others(31): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714668 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0164 | 1 | 308 | 0.0033 | 14 | c.151 others(31): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196714668 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 308 | 0.0033 | 14 | c.151 others(31): 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(7): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03239.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0038 a0004c0004t0001g0135 |
2 | 308 | 0.0065 | 14 | c.151 others(31): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753324 | T | TATATTTA others(7): Show |
intron_variant | MODIFIER | NA18978.hp2 NA19066.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 a0001c0002t0001g0086 |
2 | 354 | 0.0057 | 14 | c.905 others(29): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109753383 | T | TATATTTA others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00733.hp1 others(69): Show |
a0001a0004a0005others(3): Show | a0001c0002a0004c0005a0005c0007others(3): Show | a0001c0002t0001a0001c0002t0004a0004c0005t0001others(4): Show | a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0022 others(68): Show |
72 | 354 | 0.2034 | 14 | c.905 others(29): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109783811 | T | TAATATAT others(7): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01978.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0055 others(1): Show |
4 | 354 | 0.0113 | 14 | c.58- others(31): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CFI_chr4_109735695_109806999 | 109783812 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18999.hp2 NA19000.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 others(1): Show |
4 | 354 | 0.0113 | 14 | c.58- others(31): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CFTR_chr7_117475025_117673665 | 117499429 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01891.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0003t0003a0001c0004t0002others(1): Show | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(14): Show |
18 | 202 | 0.0891 | 14 | c.54- others(29): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117548333 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG01516.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0004t0001others(2): Show | a0001c0001t0002g0151 a0001c0001t0004g0009 a0001c0004t0001g0006 others(6): Show |
9 | 202 | 0.0446 | 14 | c.121 others(31): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117612011 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03139.hp1 HG03225.hp2 others(1): Show |
a0001a0006 | a0001c0001a0001c0004a0006c0016 | a0001c0001t0002a0001c0001t0004a0001c0004t0002others(1): Show | a0001c0001t0002g0063 a0001c0001t0004g0135 a0001c0004t0002g0016 others(1): Show |
4 | 202 | 0.0198 | 14 | c.336 others(31): 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(7): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG03654.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0004t0001a0002c0002t0001 | a0001c0001t0002g0044 a0001c0004t0001g0006 a0001c0004t0001g0007 others(1): Show |
4 | 202 | 0.0198 | 14 | c.336 others(31): 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(7): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0150 | 1 | 202 | 0.0050 | 14 | c.336 others(31): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73449476 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01891.hp1 others(15): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0006others(3): Show | a0001c0002t0002a0001c0002t0025a0001c0002t0026others(8): Show | a0001c0002t0002g0002 a0001c0002t0002g0211 a0001c0002t0025g0208 others(12): Show |
18 | 410 | 0.0439 | 14 | c.657 others(31): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0008 | a0008c0018 | a0008c0018t0009 | a0008c0018t0009g0202 | 1 | 410 | 0.0024 | 14 | c.-13 others(25): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73456388 | A | AATAATAG others(7): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0139 | 1 | 410 | 0.0024 | 14 | c.-42 others(25): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 4092 | chr6 | TogoVar | |||||||
CGGBP1_chr3_88046950_88064005 | 88050344 | A | ATTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 358 | 0.0028 | 14 | c.*51 others(25): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 1605 | chr3 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57383292 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02145.hp1 HG02486.hp2 others(9): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0268 a0001c0001t0002g0267 a0001c0001t0004g0274 others(9): Show |
12 | 294 | 0.0408 | 14 | c.-16 others(31): 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(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00735.hp1 others(29): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0015others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0129 a0001c0001t0001g0165 a0001c0001t0001g0234 others(29): Show |
32 | 294 | 0.1088 | 14 | c.-15 others(33): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57442182 | G | GAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0028 | a0028c0034 | a0028c0034t0004 | a0028c0034t0004g0035 | 1 | 294 | 0.0034 | 14 | c.169 others(31): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57442182 | G | GGAAAAAA others(7): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0257 | 1 | 294 | 0.0034 | 14 | c.169 others(31): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3/18 | chr15 | TogoVar | |||||||
CGREF1_chr2_27095594_27124128 | 27106411 | C | CCTGATAT others(7): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0060 | 1 | 352 | 0.0028 | 14 | c.-11 others(31): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CGREF1_chr2_27095594_27124128 | 27116871 | T | TTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG00558.hp2 HG03654.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 |
3 | 352 | 0.0085 | 14 | c.-12 others(31): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CGREF1_chr2_27095594_27124128 | 27116923 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0113 | 1 | 352 | 0.0028 | 14 | c.-12 others(31): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CGRRF1_chr14_54504906_54544292 | 54513627 | T | TTATGTTA others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 NA19005.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0188 a0002c0002t0002g0189 |
2 | 338 | 0.0059 | 14 | c.104 others(31): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CGRRF1_chr14_54504906_54544292 | 54535359 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG03041.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0047 others(8): Show |
12 | 338 | 0.0355 | 14 | c.571 others(31): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CHAD_chr17_50459496_50473880 | 50461927 | G | GGTGTGTG others(7): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 386 | 0.0026 | 14 | c.*31 others(25): Show |
CHAD | ENSG00000136457.10 | transcript | ENST00000508540.6 | protein_coding | 2568 | chr17 | TogoVar |