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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLMN_chr14_95176940_95324908 | 95292428 | T | TCCCCCA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(205): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(73): Show | a0001c0001t0001g0068a0001c0001t0001g0085a0001c0001t0001g0094others(201): Show | 208 | 276 | 0.7536 | 6 | c.82+ others(23): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123128035 | C | CAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG01243.hp1 HG01361.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0039a0001c0001t0002g0202a0001c0001t0003g0113others(11): Show | 14 | 254 | 0.0551 | 6 | c.29- others(23): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123135259 | C | CAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG02165.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0029a0001c0001t0001g0040a0001c0001t0002g0228others(6): Show | 9 | 254 | 0.0354 | 6 | c.29- others(23): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123139860 | T | TAAAATA | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0074a0001c0001t0002g0208a0001c0001t0004g0094others(8): Show | 11 | 254 | 0.0433 | 6 | c.29- others(23): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123141173 | C | CTTTTTT | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0004g0046others(4): Show | 7 | 254 | 0.0276 | 6 | c.29- others(23): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLN3_chr16_28472279_28497074 | 28478617 | T | TAAAAAA | intron_variant | MODIFIER | HG01255.hp2 NA18962.hp2 NA18971.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0003 | a0001c0001t0001g0104a0001c0001t0001g0107a0001c0001t0001g0110others(3): Show | 6 | 360 | 0.0167 | 6 | c.105 others(23): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 14/15 | chr16 | TogoVar | ||||||
CLN3_chr16_28472279_28497074 | 28481417 | A | AACACAC | intron_variant | MODIFIER | HG01071.hp2 HG02132.hp1 NA18962.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0111a0001c0001t0001g0112others(3): Show | 6 | 360 | 0.0167 | 6 | c.105 others(23): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 14/15 | chr16 | TogoVar | ||||||
CLN3_chr16_28472279_28497074 | 28481419 | C | CACACAT | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG03098.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0209a0002c0002t0001g0267a0002c0002t0001g0268 | 3 | 360 | 0.0083 | 6 | c.105 others(23): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 14/15 | chr16 | TogoVar | ||||||
CLN3_chr16_28472279_28497074 | 28481456 | A | ACACACG | intron_variant | MODIFIER | HG02895.hp2 HG02965.hp2 HG02970.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0001g0053others(2): Show | 5 | 360 | 0.0139 | 6 | c.105 others(23): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 14/15 | chr16 | TogoVar | ||||||
CLN3_chr16_28472279_28497074 | 28481458 | A | ACACACG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00642.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0058others(15): Show | 28 | 360 | 0.0778 | 6 | c.105 others(23): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 14/15 | chr16 | TogoVar | ||||||
CLN3_chr16_28472279_28497074 | 28492643 | A | AATATAT | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0002 | a0001c0001t0001g0148a0001c0001t0001g0150a0001c0001t0001g0171others(1): Show | 4 | 360 | 0.0111 | 6 | c.-70 others(15): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 570 | chr16 | TogoVar | ||||||
CLN6_chr15_68201992_68234728 | 68202807 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02818.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0011 | a0001c0001t0005g0039a0001c0001t0005g0199a0001c0001t0005g0205others(6): Show | 10 | 324 | 0.0309 | 6 | c.*53 others(17): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 4184 | chr15 | TogoVar | ||||||
CLN6_chr15_68201992_68234728 | 68207979 | G | GACACAC | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0039a0001c0001t0005g0040a0001c0001t0005g0198others(6): Show | 11 | 324 | 0.0340 | 6 | c.*15 others(15): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 7/7 | 160 | chr15 | TogoVar | |||||
CLN8_chr8_1758789_1791570 | 1764357 | C | CAGGCGG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(287): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(75): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(179): Show | 290 | 413 | 0.7022 | 6 | c.-12 others(23): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLN8_chr8_1758789_1791570 | 1781953 | T | TTGTGTG | 3_prime_UTR_variant | MODIFIER | HG01496.hp2 HG02257.hp1 HG02895.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0056a0001c0001t0057others(4): Show | a0001c0001t0014g0054a0001c0001t0014g0160a0001c0001t0014g0161others(6): Show | 10 | 413 | 0.0242 | 6 | c.*14 others(17): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 3/3 | 1415 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
CLNK_chr4_10481395_10689768 | 10481571 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00741.hp2 others(64): Show |
a0001a0002a0008 | a0001c0001a0001c0004a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0024others(64): Show | 67 | 320 | 0.2094 | 6 | c.*88 others(17): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 4823 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10482493 | A | AATATAT | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00741.hp2 others(52): Show |
a0001a0002a0008 | a0001c0001a0001c0004a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0024a0001c0001t0001g0039others(52): Show | 55 | 320 | 0.1719 | 6 | c.*79 others(17): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 3901 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10524087 | A | AGAGGAG | intron_variant | MODIFIER | HG01257.hp2 HG01261.hp1 HG01433.hp1 others(31): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0052a0001c0001t0001g0134a0001c0001t0003g0124others(31): Show | 34 | 320 | 0.1063 | 6 | c.731 others(23): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 14/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10537637 | C | CTTTCTT | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01928.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020a0001c0001t0050 | a0001c0001t0003g0200a0001c0001t0020g0069a0001c0001t0050g0209 | 3 | 320 | 0.0094 | 6 | c.602 others(23): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10605825 | C | CAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp2 HG01192.hp2 others(14): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0065a0001c0001t0002g0282a0001c0001t0003g0203others(14): Show | 17 | 320 | 0.0531 | 6 | c.12- others(21): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10616790 | G | GTATATA | intron_variant | MODIFIER | NA18950.hp1 NA18983.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0070 | a0001c0001t0002g0122a0001c0001t0011g0120a0001c0001t0070g0121 | 3 | 320 | 0.0094 | 6 | c.12- others(23): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10655328 | C | CAGAGAG | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0022g0055 | 3 | 320 | 0.0094 | 6 | c.11+ others(23): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10655334 | C | CAGAGAG | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0196a0001c0001t0002g0065a0001c0001t0004g0281others(5): Show | 8 | 320 | 0.0250 | 6 | c.11+ others(23): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10682129 | G | GTGTGTA | intron_variant | MODIFIER | HG00741.hp2 HG01433.hp1 HG03098.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0003a0001c0001t0003g0124a0002c0002t0001g0002 | 3 | 320 | 0.0094 | 6 | c.-43 others(23): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 1/18 | chr4 | TogoVar | ||||||
CLNS1A_chr11_77609530_77642794 | 77637243 | T | TAAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG02132.hp1 HG02165.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0052others(7): Show | 14 | 408 | 0.0343 | 6 | c.125 others(21): Show |
CLNS1A | ENSG00000074201.9 | transcript | ENST00000525428.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55445068 | G | GCTTTTC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp2 others(106): Show |
a0001a0003a0006 | a0001c0001a0001c0012a0001c0014others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0081a0001c0001t0001g0082others(105): Show | 109 | 338 | 0.3225 | 6 | c.154 others(23): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 18/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55448594 | A | ACGCGCG | intron_variant | MODIFIER | HG01167.hp1 HG01261.hp1 HG02145.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0022a0001c0001t0031others(2): Show | a0001c0001t0006g0031a0001c0001t0022g0065a0001c0001t0022g0070others(4): Show | 7 | 338 | 0.0207 | 6 | c.153 others(23): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 18/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55448601 | C | CGCGCGT | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00673.hp1 others(13): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(7): Show | a0001c0001t0003g0018a0001c0001t0003g0030a0001c0001t0003g0055others(13): Show | 16 | 338 | 0.0473 | 6 | c.153 others(23): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 18/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55462844 | T | TTGTGTG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp2 others(93): Show |
a0001a0006 | a0001c0001a0001c0012a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(15): Show | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0084others(93): Show | 96 | 338 | 0.2840 | 6 | c.559 others(21): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 9/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55492357 | T | TAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp2 others(77): Show |
a0001a0006 | a0001c0001a0001c0012a0006c0013 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0082a0001c0001t0001g0083others(76): Show | 80 | 338 | 0.2367 | 6 | c.-13 others(25): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 2/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55498603 | C | CTTATTA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(187): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0012a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(45): Show | a0001c0001t0001g0001a0001c0001t0001g0081a0001c0001t0001g0083others(186): Show | 190 | 338 | 0.5621 | 6 | c.-13 others(25): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 2/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55544165 | G | GACACAC | intron_variant | MODIFIER | HG02630.hp2 HG03195.hp2 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0011a0002c0003t0005 | a0001c0001t0011g0320a0001c0001t0011g0321a0002c0003t0005g0324 | 3 | 338 | 0.0089 | 6 | c.-29 others(25): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 1/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55545052 | C | CTTTTTT | intron_variant | MODIFIER | HG01257.hp1 HG01261.hp2 HG02895.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0001g0175a0001c0001t0007g0172a0001c0001t0010g0173others(4): Show | 7 | 338 | 0.0207 | 6 | c.-29 others(25): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 1/22 | chr4 | TogoVar | ||||||
CLPB_chr11_72280495_72439531 | 72286800 | C | CGTGTGT | 3_prime_UTR_variant | MODIFIER | HG01516.hp1 HG02015.hp1 NA18952.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0046a0001c0001t0047a0001c0001t0049others(5): Show | a0001c0001t0046g0071a0001c0001t0047g0069a0001c0001t0049g0068others(5): Show | 8 | 206 | 0.0388 | 6 | c.*65 others(17): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 17/17 | 6566 | chr11 | TogoVar | |||||
CLPB_chr11_72280495_72439531 | 72297636 | G | GGTGTGT | intron_variant | MODIFIER | HG00738.hp1 HG01928.hp2 HG02273.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0078others(1): Show | a0001c0001t0001g0060a0001c0001t0013g0189a0001c0001t0078g0065others(1): Show | 4 | 206 | 0.0194 | 6 | c.142 others(25): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
CLPSL2_chr6_35771598_35784552 | 35772722 | G | GTATATA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG00738.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008others(2): Show | 28 | 460 | 0.0609 | 6 | c.-38 others(17): Show |
CLPSL2 | ENSG00000196748.10 | transcript | ENST00000403376.4 | protein_coding | 3875 | chr6 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333123 | C | CGGATGA | intron_variant | MODIFIER | HG02280.hp2 HG02809.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0167a0001c0001t0001g0226a0001c0001t0006g0347others(1): Show | 4 | 370 | 0.0108 | 6 | c.891 others(23): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333220 | A | ATTGGAT | intron_variant | MODIFIER | HG00140.hp2 HG02615.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0325a0001c0001t0003g0343a0001c0001t0003g0344 | 3 | 370 | 0.0081 | 6 | c.891 others(23): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333222 | C | CAGATGA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(77): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0014others(68): Show | 80 | 370 | 0.2162 | 6 | c.891 others(23): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333222 | C | CGGATGA | intron_variant | MODIFIER | HG01074.hp1 HG03139.hp2 HG03209.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0004 | a0001c0001t0001g0328a0001c0001t0001g0329a0001c0001t0001g0336others(1): Show | 4 | 370 | 0.0108 | 6 | c.891 others(23): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333251 | C | CGGATGA | intron_variant | MODIFIER | HG03471.hp1 HG03516.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0311 | 3 | 370 | 0.0081 | 6 | c.891 others(23): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333252 | A | AGATGAG | intron_variant | MODIFIER | HG00140.hp2 HG01261.hp1 HG01884.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0016others(37): Show | 46 | 370 | 0.1243 | 6 | c.891 others(23): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1342039 | T | TGTGTGC | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01346.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0232a0001c0001t0001g0233a0001c0001t0002g0245others(6): Show | 9 | 370 | 0.0243 | 6 | c.264 others(21): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 2/16 | chr5 | TogoVar | ||||||
CLPTM1_chr19_44950380_44998341 | 44954150 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02572.hp1 HG02572.hp2 others(5): Show |
a0001a0009 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0234a0001c0005t0001g0034a0001c0006t0001g0030others(5): Show | 8 | 374 | 0.0214 | 6 | c.-12 others(17): Show |
CLPTM1 | ENSG00000104853.16 | transcript | ENST00000337392.10 | protein_coding | 1229 | chr19 | TogoVar | ||||||
CLPTM1_chr19_44950380_44998341 | 44954274 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(60): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0047others(56): Show | 63 | 374 | 0.1685 | 6 | c.-11 others(17): Show |
CLPTM1 | ENSG00000104853.16 | transcript | ENST00000337392.10 | protein_coding | 1105 | chr19 | TogoVar | ||||||
CLPTM1_chr19_44950380_44998341 | 44973761 | G | GTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(59): Show |
a0001a0005 | a0001c0001a0005c0020 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(54): Show | 62 | 374 | 0.1658 | 6 | c.309 others(21): Show |
CLPTM1 | ENSG00000104853.16 | transcript | ENST00000337392.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CLPTM1_chr19_44950380_44998341 | 44973765 | T | TTTTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(170): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0013others(140): Show | 173 | 374 | 0.4626 | 6 | c.309 others(21): Show |
CLPTM1 | ENSG00000104853.16 | transcript | ENST00000337392.10 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CLPX_chr15_65143219_65190342 | 65160592 | T | TTCTCTC | intron_variant | MODIFIER | HG02109.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144a0001c0001t0002g0149 | 2 | 190 | 0.0105 | 6 | c.716 others(23): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 6/13 | chr15 | TogoVar | ||||||
CLPX_chr15_65143219_65190342 | 65168383 | C | CAAAAAA | intron_variant | MODIFIER | HG02109.hp2 HG02809.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0024others(3): Show | 6 | 190 | 0.0316 | 6 | c.359 others(23): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 3/13 | chr15 | TogoVar | ||||||
CLRN1_chr3_150921567_150977727 | 150941178 | C | CATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(162): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0012others(148): Show | 165 | 408 | 0.4044 | 6 | c.433 others(21): Show |
CLRN1 | ENSG00000163646.12 | transcript | ENST00000327047.6 | protein_coding | 2/2 | chr3 | TogoVar |