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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPLX2_chr5_175866578_175889021 | 175871458 | A | AGAGAGGG others(17): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01943.hp1 HG01952.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0041 | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0014others(3): Show | 19 | 378 | 0.0503 | 24 | c.-33 others(33): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 119 | chr5 | TogoVar | ||||||
CPLX2_chr5_175866578_175889021 | 175871458 | A | AGAGGGAG others(17): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0001 | 1 | 378 | 0.0027 | 24 | c.-33 others(33): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 119 | chr5 | TogoVar | ||||||
CPLX2_chr5_175866578_175889021 | 175871464 | A | AGAGAGAA others(17): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG01993.hp1 HG02109.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(2): Show | a0001c0001t0001g0004a0001c0001t0004g0049a0001c0001t0013g0004others(2): Show | 6 | 378 | 0.0159 | 24 | c.-33 others(33): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 113 | chr5 | TogoVar | ||||||
CPM_chr12_68846175_68938171 | 68847196 | T | TTATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00733.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0014a0001c0001t0024others(4): Show | a0001c0001t0001g0072a0001c0001t0014g0118a0001c0001t0024g0216others(11): Show | 14 | 340 | 0.0412 | 24 | c.*92 others(35): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 3978 | chr12 | TogoVar | ||||||
CPNE3_chr8_86509435_86566498 | 86527946 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0166 | 1 | 340 | 0.0029 | 24 | c.-10 others(39): Show |
CPNE3 | ENSG00000085719.13 | transcript | ENST00000517490.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPNE3_chr8_86509435_86566498 | 86552962 | G | GCCCCCCC others(17): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 | 1 | 340 | 0.0029 | 24 | c.112 others(43): Show |
CPNE3 | ENSG00000085719.13 | transcript | ENST00000517490.6 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPNE4_chr3_131528569_132040014 | 131698233 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 94 | 0.0106 | 24 | c.433 others(41): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 4/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131792623 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0015 | a0001c0001t0001g0010a0001c0005t0015g0091 | 2 | 94 | 0.0213 | 24 | c.181 others(43): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131942463 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0025 | 1 | 94 | 0.0106 | 24 | c.-1- others(41): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CPNE6_chr14_24066562_24083087 | 24082438 | T | TCCCCCCC others(17): Show |
downstream_gene_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 440 | 0.0023 | 24 | c.*45 others(35): Show |
CPNE6 | ENSG00000100884.10 | transcript | ENST00000689861.1 | protein_coding | 4352 | chr14 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587785 | C | CCCCGTGT others(17): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0200 | 1 | 348 | 0.0029 | 24 | c.927 others(39): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89597981 | C | CATCCGTC others(17): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 348 | 0.0029 | 24 | c.*13 others(35): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 736 | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89598266 | A | ATCCGTCC others(17): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 348 | 0.0029 | 24 | c.*16 others(35): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 1021 | chr16 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38704826 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01243.hp2 HG01361.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0008others(1): Show | a0001c0001t0001g0091a0001c0001t0001g0120a0001c0002t0002g0049others(9): Show | 12 | 342 | 0.0351 | 24 | c.915 others(41): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 13/19 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38704834 | A | ATGTGTAT others(17): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0212a0001c0001t0003g0220 | 2 | 342 | 0.0059 | 24 | c.915 others(41): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 13/19 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38717427 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0273 | 1 | 342 | 0.0029 | 24 | c.914 others(41): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 13/19 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38717429 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01071.hp1 HG02293.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0116others(4): Show | 7 | 342 | 0.0205 | 24 | c.914 others(41): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 13/19 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38760435 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02896.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0334a0001c0001t0007g0335a0001c0001t0007g0336others(1): Show | 4 | 342 | 0.0117 | 24 | c.722 others(39): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 10/19 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38795867 | G | GGATAGAT others(17): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0113 | 1 | 342 | 0.0029 | 24 | c.408 others(43): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 6/19 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38842837 | A | AAAAAGTG others(17): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0302 | 1 | 342 | 0.0029 | 24 | c.291 others(41): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 4/19 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38902393 | G | GAGAAAGA others(17): Show |
intron_variant | MODIFIER | HG02630.hp1 NA18939.hp2 NA18981.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0096a0001c0001t0001g0115a0001c0001t0001g0120others(5): Show | 8 | 342 | 0.0234 | 24 | c.98+ others(39): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38902417 | A | AAGAAAGA others(17): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02486.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0087a0001c0001t0001g0290a0001c0001t0004g0291 | 3 | 342 | 0.0088 | 24 | c.98+ others(39): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
CPO_chr2_206934518_206974474 | 206935766 | T | TATCCATC others(17): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0161 | 1 | 422 | 0.0024 | 24 | c.-38 others(35): Show |
CPO | ENSG00000144410.5 | transcript | ENST00000272852.4 | protein_coding | 3751 | chr2 | TogoVar | ||||||
CPO_chr2_206934518_206974474 | 206935784 | C | CCCATCCA others(17): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG02895.hp2 HG02897.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0103a0001c0001t0001g0105others(6): Show | 10 | 422 | 0.0237 | 24 | c.-38 others(35): Show |
CPO | ENSG00000144410.5 | transcript | ENST00000272852.4 | protein_coding | 3733 | chr2 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96730866 | C | CATACATA others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01884.hp1 HG01975.hp1 others(8): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0056others(8): Show | 11 | 126 | 0.0873 | 24 | c.-34 others(43): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96730866 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 126 | 0.0079 | 24 | c.-34 others(43): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96737355 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 126 | 0.0079 | 24 | c.-34 others(43): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96854530 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18979.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060a0001c0002t0001g0106 | 2 | 126 | 0.0159 | 24 | c.641 others(43): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96926540 | T | TTCTTCCT others(17): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0053 | 1 | 126 | 0.0079 | 24 | c.850 others(43): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96926576 | C | CTCTTCCT others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0120 | 1 | 126 | 0.0079 | 24 | c.850 others(43): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96926576 | C | CTCTTCCT others(17): Show |
intron_variant | MODIFIER | HG02004.hp2 NA19009.hp1 NA19066.hp1 |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0001a0006c0010t0001 | a0001c0002t0001g0058a0001c0002t0001g0065a0006c0010t0001g0045 | 3 | 126 | 0.0238 | 24 | c.850 others(43): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96926576 | C | CTCTTCCT others(17): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 126 | 0.0079 | 24 | c.850 others(43): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96926576 | C | CTCTTCTT others(17): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02723.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0041a0001c0001t0001g0105a0001c0001t0002g0022others(1): Show | 4 | 126 | 0.0318 | 24 | c.850 others(43): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 97122932 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066 | 1 | 126 | 0.0079 | 24 | c.125 others(45): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPSF2_chr14_92116969_92177145 | 92165854 | C | CTTTTTTT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0128 | 1 | 388 | 0.0026 | 24 | c.*41 others(35): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 16/16 | 4136 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
CPSF2_chr14_92116969_92177145 | 92173330 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0135 | a0001c0001t0006g0014a0001c0001t0135g0189 | 2 | 388 | 0.0052 | 24 | c.*11 others(37): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1186 | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92173330 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0163 | a0001c0001t0005g0002a0001c0001t0163g0014 | 2 | 388 | 0.0052 | 24 | c.*11 others(37): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1186 | chr14 | TogoVar | ||||||
CPSF3_chr2_9418654_9478101 | 9436774 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02135.hp2 NA19070.hp2 NA19079.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186a0001c0001t0001g0187a0001c0001t0001g0188others(1): Show | 4 | 230 | 0.0174 | 24 | c.760 others(39): Show |
CPSF3 | ENSG00000119203.14 | transcript | ENST00000238112.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CPSF3_chr2_9418654_9478101 | 9436774 | A | AAATAATA others(17): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01934.hp1 HG02027.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0030others(2): Show | 5 | 230 | 0.0217 | 24 | c.760 others(39): Show |
CPSF3 | ENSG00000119203.14 | transcript | ENST00000238112.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CPSF4_chr7_99433943_99462373 | 99440655 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0090 | 1 | 364 | 0.0028 | 24 | c.103 others(41): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPSF4_chr7_99433943_99462373 | 99440655 | C | CGCATATA others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0101 | 1 | 364 | 0.0028 | 24 | c.103 others(41): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99440674 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0119 | 1 | 364 | 0.0028 | 24 | c.103 others(41): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPSF6_chr12_69234569_69279358 | 69249152 | C | CGGTGGGG others(17): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 392 | 0.0026 | 24 | c.61- others(39): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CPSF7_chr11_61397729_61434975 | 61434591 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 | 1 | 190 | 0.0053 | 24 | c.-47 others(35): Show |
CPSF7 | ENSG00000149532.16 | transcript | ENST00000439958.8 | protein_coding | 4617 | chr11 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49701110 | C | CCCCCCTC others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00621.hp2 others(84): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0038others(81): Show | 87 | 350 | 0.2486 | 24 | c.454 others(39): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CPT1C_chr19_49686116_49718731 | 49703563 | T | TCCTCCCT others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG03017.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0236a0001c0001t0001g0250a0001c0001t0003g0092others(3): Show | 6 | 350 | 0.0171 | 24 | c.694 others(41): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CPT1C_chr19_49686116_49718731 | 49703587 | C | CCTTCCCT others(17): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02109.hp2 HG02965.hp2 |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0002a0003c0007t0002 | a0001c0002t0002g0198a0001c0002t0002g0207a0003c0007t0002g0208 | 3 | 350 | 0.0086 | 24 | c.694 others(41): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CPT1C_chr19_49686116_49718731 | 49703595 | C | CCCTCCCT others(17): Show |
intron_variant | MODIFIER | HG03453.hp2 NA19002.hp2 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0133a0001c0001t0001g0139a0001c0001t0002g0171 | 3 | 350 | 0.0086 | 24 | c.694 others(41): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CPT1C_chr19_49686116_49718731 | 49703595 | C | CCCTCCCT others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01168.hp1 HG01928.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0005a0001c0001t0002g0041a0001c0001t0002g0042others(4): Show | 8 | 350 | 0.0229 | 24 | c.694 others(41): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CPT1C_chr19_49686116_49718731 | 49703595 | C | CCCTCCCT others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02055.hp1 HG02523.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0048a0001c0001t0002g0049a0001c0001t0002g0065others(4): Show | 7 | 350 | 0.0200 | 24 | c.694 others(41): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |