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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPED1_chr7_120983711_121302442 | 121027742 | GTAA | G | intron_variant | MODIFIER | HG01099.hp1 HG01978.hp2 HG02055.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0132a0001c0001t0003g0001a0001c0001t0003g0008others(18): Show | 21 | 140 | 0.1500 | -3 | c.433 others(22): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121047646 | TTTC | T | intron_variant | MODIFIER | HG01928.hp2 HG01975.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0022a0001c0003t0003g0023 | 2 | 140 | 0.0143 | -3 | c.540 others(18): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121059625 | CATA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(68): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0047a0001c0001t0001g0071a0001c0001t0001g0083others(68): Show | 71 | 140 | 0.5071 | -3 | c.541 others(20): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121073807 | ATTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00621.hp2 others(51): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(15): Show | a0001c0001t0001g0101a0001c0001t0002g0033a0001c0001t0002g0051others(51): Show | 54 | 140 | 0.3857 | -3 | c.616 others(20): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121088763 | CAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00639.hp1 others(17): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0008a0003c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0056a0001c0001t0001g0071a0001c0001t0001g0083others(17): Show | 20 | 140 | 0.1429 | -3 | c.617 others(20): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121120966 | TAAA | T | intron_variant | MODIFIER | HG02486.hp2 HG02723.hp2 HG02818.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0002g0051a0001c0001t0003g0010a0001c0003t0001g0081others(4): Show | 7 | 140 | 0.0500 | -3 | c.919 others(20): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121150752 | CATT | C | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00741.hp1 others(20): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0059others(20): Show | 23 | 140 | 0.1643 | -3 | c.205 others(22): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121167725 | ATTT | A | intron_variant | MODIFIER | HG02280.hp1 HG02895.hp1 HG03041.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0056a0001c0001t0001g0092a0001c0001t0002g0033others(4): Show | 7 | 140 | 0.0500 | -3 | c.205 others(24): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121194041 | TATA | T | intron_variant | MODIFIER | HG01070.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0061a0001c0001t0005g0018 | 2 | 140 | 0.0143 | -3 | c.205 others(24): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 16/22 | chr7 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121229400 | GTGT | G | intron_variant | MODIFIER | HG02809.hp2 HG03579.hp2 NA18522.hp2 others(1): Show |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0001a0001c0003t0008a0003c0005t0001 | a0001c0003t0001g0038a0001c0003t0008g0030a0001c0003t0008g0045others(1): Show | 4 | 140 | 0.0286 | -3 | c.205 others(22): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121260223 | GTTT | G | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01099.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0062a0001c0001t0002g0122a0001c0001t0002g0132others(8): Show | 11 | 140 | 0.0786 | -3 | c.231 others(22): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121263679 | TTTG | T | intron_variant | MODIFIER | HG02486.hp2 HG02818.hp1 HG02965.hp2 others(4): Show |
a0003 | a0003c0005a0003c0006a0003c0016 | a0003c0005t0001a0003c0005t0003a0003c0006t0001others(1): Show | a0003c0005t0001g0046a0003c0005t0003g0016a0003c0005t0003g0017others(4): Show | 7 | 140 | 0.0500 | -3 | c.231 others(22): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121289713 | TTGA | T | intron_variant | MODIFIER | HG01496.hp1 HG02572.hp1 HG02622.hp1 others(1): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0010 | a0001c0001t0002a0001c0003t0002a0001c0003t0009others(1): Show | a0001c0001t0002g0088a0001c0003t0002g0125a0001c0003t0009g0117others(1): Show | 4 | 140 | 0.0286 | -3 | c.286 others(22): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121299302 | ATAG | A | downstream_gene_variant | MODIFIER | HG02572.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0056a0001c0003t0001g0126 | 2 | 140 | 0.0143 | -3 | c.*36 others(14): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 1861 | chr7 | TogoVar | ||||||
CPE_chr4_165374008_165503547 | 165377813 | CAAA | C | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01358.hp1 HG02056.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0002 | a0001c0001t0001g0085a0001c0001t0001g0094a0001c0001t0001g0131others(4): Show | 7 | 332 | 0.0211 | -3 | c.-14 others(14): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1194 | chr4 | TogoVar | ||||||
CPE_chr4_165374008_165503547 | 165392525 | ATAT | A | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0170others(1): Show | 4 | 332 | 0.0121 | -3 | c.307 others(22): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPE_chr4_165374008_165503547 | 165392881 | AAAT | A | intron_variant | MODIFIER | HG02135.hp1 HG03688.hp1 HG03831.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0002g0058others(2): Show | 5 | 332 | 0.0151 | -3 | c.307 others(22): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPE_chr4_165374008_165503547 | 165411530 | GCTT | G | intron_variant | MODIFIER | HG00673.hp1 HG01928.hp1 HG02080.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0089a0001c0001t0001g0091a0001c0002t0003g0042others(10): Show | 13 | 332 | 0.0392 | -3 | c.307 others(22): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPE_chr4_165374008_165503547 | 165422288 | CGTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(105): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0040others(105): Show | 108 | 332 | 0.3253 | -3 | c.308 others(22): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPE_chr4_165374008_165503547 | 165423361 | TTTC | T | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0002 | a0001c0001t0001g0006a0001c0001t0001g0154a0001c0001t0001g0157others(5): Show | 8 | 332 | 0.0241 | -3 | c.308 others(22): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPE_chr4_165374008_165503547 | 165440865 | CCTT | C | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(1): Show | a0001c0001t0001g0174a0001c0001t0002g0159a0001c0001t0002g0160others(5): Show | 8 | 332 | 0.0241 | -3 | c.308 others(22): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPE_chr4_165374008_165503547 | 165446795 | TCTC | T | intron_variant | MODIFIER | HG01070.hp2 HG02055.hp2 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0135a0001c0001t0001g0166a0001c0001t0001g0167others(4): Show | 7 | 332 | 0.0211 | -3 | c.308 others(22): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPE_chr4_165374008_165503547 | 165459702 | CAGG | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(87): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0028others(87): Show | 90 | 332 | 0.2711 | -3 | c.308 others(20): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPE_chr4_165374008_165503547 | 165459914 | CAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp1 HG01109.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(46): Show | 53 | 332 | 0.1596 | -3 | c.308 others(20): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPE_chr4_165374008_165503547 | 165472425 | TTTG | T | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp1 HG01109.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0071others(41): Show | 47 | 332 | 0.1416 | -3 | c.672 others(20): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPE_chr4_165374008_165503547 | 165473332 | ACCT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(256): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(253): Show | 259 | 332 | 0.7801 | -3 | c.672 others(20): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPE_chr4_165374008_165503547 | 165481011 | TATA | T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(97): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0017a0001c0001t0001g0023a0001c0001t0001g0024others(97): Show | 100 | 332 | 0.3012 | -3 | c.673 others(20): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 3/8 | chr4 | TogoVar | ||||||
CPE_chr4_165374008_165503547 | 165481013 | TATA | T | intron_variant | MODIFIER | HG01069.hp2 HG01074.hp2 HG01255.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0019others(4): Show | 7 | 332 | 0.0211 | -3 | c.673 others(20): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 3/8 | chr4 | TogoVar | ||||||
CPE_chr4_165374008_165503547 | 165481014 | ATAT | A | intron_variant | MODIFIER | HG01070.hp2 HG01106.hp2 HG01167.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0020others(8): Show | 11 | 332 | 0.0331 | -3 | c.673 others(20): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPE_chr4_165374008_165503547 | 165481016 | ATTT | A | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0002 | a0001c0001t0001g0170a0001c0001t0002g0142a0001c0001t0002g0155others(5): Show | 8 | 332 | 0.0241 | -3 | c.673 others(20): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPE_chr4_165374008_165503547 | 165499215 | TGAG | T | downstream_gene_variant | MODIFIER | HG01081.hp1 HG02451.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0048a0001c0004t0002g0165a0001c0004t0002g0197others(1): Show | 4 | 332 | 0.0121 | -3 | c.*16 others(14): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 669 | chr4 | TogoVar | ||||||
CPE_chr4_165374008_165503547 | 165501217 | CAAA | C | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02630.hp2 HG03516.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061a0001c0001t0002g0142a0001c0001t0002g0160others(3): Show | 6 | 332 | 0.0181 | -3 | c.*36 others(14): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 2671 | chr4 | TogoVar | ||||||
CPE_chr4_165374008_165503547 | 165502534 | CATT | C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00621.hp1 others(35): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0008a0001c0001t0002g0011a0001c0001t0002g0012others(35): Show | 38 | 332 | 0.1145 | -3 | c.*49 others(14): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 3988 | chr4 | TogoVar | ||||||
CPHXL2_chr16_75655227_75682009 | 75664644 | AAAG | A | intron_variant | MODIFIER | HG02486.hp1 HG02647.hp2 HG06807.hp1 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0001 | a0001c0001t0001g0091a0001c0001t0001g0119a0006c0010t0001g0092 | 3 | 392 | 0.0077 | -3 | c.208 others(20): Show |
CPHXL2 | ENSG00000284484.1 | transcript | ENST00000640173.1 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
CPHXL2_chr16_75655227_75682009 | 75666608 | CAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01515.hp2 HG02055.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021a0001c0001t0001g0028a0001c0001t0001g0070others(10): Show | 15 | 392 | 0.0383 | -3 | c.207 others(20): Show |
CPHXL2 | ENSG00000284484.1 | transcript | ENST00000640173.1 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
CPHXL2_chr16_75655227_75682009 | 75668226 | TATA | T | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0001 | a0001c0001t0004g0040a0001c0001t0004g0248a0001c0004t0001g0179others(1): Show | 5 | 392 | 0.0128 | -3 | c.207 others(20): Show |
CPHXL2 | ENSG00000284484.1 | transcript | ENST00000640173.1 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
CPHXL2_chr16_75655227_75682009 | 75668228 | TATA | T | intron_variant | MODIFIER | HG00323.hp1 HG01257.hp2 HG01258.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0027a0001c0001t0001g0030others(26): Show | 34 | 392 | 0.0867 | -3 | c.207 others(20): Show |
CPHXL2 | ENSG00000284484.1 | transcript | ENST00000640173.1 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
CPHXL2_chr16_75655227_75682009 | 75675355 | TATA | T | intron_variant | MODIFIER | HG00323.hp1 HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0177 | 3 | 392 | 0.0077 | -3 | c.13+ others(18): Show |
CPHXL2 | ENSG00000284484.1 | transcript | ENST00000640173.1 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CPLANE1_chr5_37101235_37254376 | 37154459 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG01192.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0016a0003c0004others(1): Show | a0001c0001t0001a0001c0016t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0070a0001c0001t0001g0075a0001c0001t0001g0077others(17): Show | 20 | 268 | 0.0746 | -3 | c.812 others(20): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 41/52 | chr5 | TogoVar | ||||||
CPLANE1_chr5_37101235_37254376 | 37187060 | CAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp2 HG01081.hp2 others(43): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0009a0001c0010others(11): Show | a0001c0001t0001a0001c0009t0001a0001c0010t0001others(14): Show | a0001c0001t0001g0070a0001c0001t0001g0072a0001c0001t0001g0074others(43): Show | 46 | 268 | 0.1716 | -3 | c.408 others(20): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 23/52 | chr5 | TogoVar | ||||||
CPLANE1_chr5_37101235_37254376 | 37193179 | GACA | G | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02258.hp1 others(11): Show |
a0003 | a0003c0004a0003c0013 | a0003c0004t0001a0003c0013t0001 | a0003c0004t0001g0053a0003c0004t0001g0054a0003c0004t0001g0055others(11): Show | 14 | 268 | 0.0522 | -3 | c.381 others(22): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 21/52 | chr5 | TogoVar | ||||||
CPLANE1_chr5_37101235_37254376 | 37223332 | GTTC | G | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG02055.hp1 others(15): Show |
a0003a0004a0006others(2): Show | a0003c0004a0004c0003a0006c0005others(2): Show | a0003c0004t0001a0004c0003t0001a0004c0003t0012others(3): Show | a0003c0004t0001g0244a0003c0004t0001g0245a0004c0003t0001g0238others(15): Show | 18 | 268 | 0.0672 | -3 | c.258 others(20): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 14/52 | chr5 | TogoVar | ||||||
CPLANE1_chr5_37101235_37254376 | 37235567 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(83): Show |
a0001a0005a0008others(5): Show | a0001c0001a0001c0009a0001c0010others(13): Show | a0001c0001t0001a0001c0009t0001a0001c0010t0001others(13): Show | a0001c0001t0001g0067a0001c0001t0001g0069a0001c0001t0001g0070others(83): Show | 86 | 268 | 0.3209 | -3 | c.938 others(20): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 8/52 | chr5 | TogoVar | ||||||
CPLANE2_chr1_16226692_16242183 | 16235677 | CTTT | C | intron_variant | MODIFIER | HG02717.hp2 HG02723.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0008a0001c0001t0010g0054 | 9 | 380 | 0.0237 | -3 | c.112 others(18): Show |
CPLANE2 | ENSG00000132881.12 | transcript | ENST00000375599.8 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
CPLANE2_chr1_16226692_16242183 | 16238458 | CAAA | C | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01168.hp1 HG02145.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(4): Show | 15 | 380 | 0.0395 | -3 | c.-17 others(14): Show |
CPLANE2 | ENSG00000132881.12 | transcript | ENST00000375599.8 | protein_coding | 1276 | chr1 | TogoVar | ||||||
CPLANE2_chr1_16226692_16242183 | 16241058 | CTTT | C | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02717.hp2 HG02723.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0051a0001c0001t0009g0032others(2): Show | 12 | 380 | 0.0316 | -3 | c.-43 others(14): Show |
CPLANE2 | ENSG00000132881.12 | transcript | ENST00000375599.8 | protein_coding | 3876 | chr1 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 800724 | TAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00609.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0002g0014a0001c0001t0002g0017a0001c0001t0002g0018others(61): Show | 70 | 416 | 0.1683 | -3 | c.32- others(18): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 800733 | AAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0383a0001c0001t0002g0129a0001c0001t0002g0272others(56): Show | 61 | 416 | 0.1466 | -3 | c.32- others(18): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 800735 | ATAT | A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02280.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0025 | a0001c0001t0003g0134a0001c0001t0003g0135a0001c0001t0003g0136others(13): Show | 16 | 416 | 0.0385 | -3 | c.32- others(18): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
CPLX2_chr5_175866578_175889021 | 175874885 | GAGA | G | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01891.hp1 others(39): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(12): Show | a0001c0001t0001g0004a0001c0001t0004g0004a0001c0001t0004g0042others(18): Show | 42 | 378 | 0.1111 | -3 | c.-89 others(20): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |