| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHMP1A_chr16_89639435_89662708 | 89648362 | A | ACACCCAG others(35): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 392 | 0.0026 | 42 | c.252 others(57): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89648362 | A | AGACCCAG others(35): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 392 | 0.0026 | 42 | c.252 others(57): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89648370 | C | CGCGGGGT others(35): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 392 | 0.0026 | 42 | c.252 others(57): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89648370 | C | CGCGGGGT others(35): Show |
intron_variant | MODIFIER | HG01257.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0050a0001c0001t0007g0159 | 2 | 392 | 0.0051 | 42 | c.252 others(57): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89648393 | C | CGCCGACG others(35): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 392 | 0.0026 | 42 | c.252 others(57): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89648412 | C | CGCGGGGT others(35): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075 | 1 | 392 | 0.0026 | 42 | c.252 others(57): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89648412 | C | CGCGGGGT others(35): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0168 | 1 | 392 | 0.0026 | 42 | c.252 others(57): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHMP1A_chr16_89639435_89662708 | 89648412 | C | CGCGGGGT others(35): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 392 | 0.0026 | 42 | c.252 others(57): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
| CHN2_chr7_29189775_29519328 | 29273326 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18612.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0004 | a0001c0001t0009g0043a0001c0002t0004g0074 | 2 | 232 | 0.0086 | 42 | c.49+ others(59): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHN2_chr7_29189775_29519328 | 29472281 | A | ACACACAC others(35): Show |
intron_variant | MODIFIER | NA18972.hp2 NA19074.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0058a0001c0002t0002g0030 | 2 | 232 | 0.0086 | 42 | c.577 others(59): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHRM2_chr7_136863652_137025213 | 136867990 | A | ATATATTC others(35): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0041 | 1 | 320 | 0.0031 | 42 | c.-12 others(53): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 661 | chr7 | TogoVar | ||||||
| CHRM3_chr1_239381568_239920450 | 239407417 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0104 | 1 | 116 | 0.0086 | 42 | c.-52 others(63): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239407417 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 116 | 0.0086 | 42 | c.-52 others(63): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239662893 | C | CTCCTCTT others(35): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02738.hp1 HG03831.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0001g0098a0001c0001t0001g0105a0001c0001t0006g0065others(5): Show | 8 | 116 | 0.0690 | 42 | c.-24 others(63): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239684770 | G | GAAAGAAA others(35): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG01433.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0025others(1): Show | a0001c0001t0002g0059a0001c0001t0002g0107a0001c0001t0007g0060others(2): Show | 5 | 116 | 0.0431 | 42 | c.-14 others(61): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CIB4_chr2_26576205_26646366 | 26589042 | T | TTCTTCTT others(35): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0088 | 1 | 344 | 0.0029 | 42 | c.329 others(59): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
| CIP2A_chr3_108544864_108594438 | 108569168 | C | CTATATAT others(35): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01934.hp1 HG01952.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0324a0001c0001t0004g0331a0001c0001t0004g0332others(4): Show | 7 | 372 | 0.0188 | 42 | c.111 others(59): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | ||||||
| CIP2A_chr3_108544864_108594438 | 108569181 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG01952.hp1 HG03130.hp1 HG03834.hp2 others(1): Show |
a0001a0013 | a0001c0001a0013c0018 | a0001c0001t0002a0013c0018t0002 | a0001c0001t0002g0186a0001c0001t0002g0192a0001c0001t0002g0200others(1): Show | 4 | 372 | 0.0108 | 42 | c.111 others(59): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | ||||||
| CIP2A_chr3_108544864_108594438 | 108569181 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01074.hp1 HG02056.hp1 others(9): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0006a0001c0013t0002 | a0001c0001t0002g0163a0001c0001t0002g0170a0001c0001t0002g0176others(9): Show | 12 | 372 | 0.0323 | 42 | c.111 others(59): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | ||||||
| CIP2A_chr3_108544864_108594438 | 108569181 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG04184.hp1 HG06807.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0004a0004c0004t0005 | a0001c0001t0004g0341a0004c0004t0005g0013 | 2 | 372 | 0.0054 | 42 | c.111 others(59): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | ||||||
| CIPC_chr14_77093258_77122287 | 77119367 | G | GAAGGAAG others(35): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0010 | 1 | 426 | 0.0024 | 42 | c.*50 others(53): Show |
CIPC | ENSG00000198894.8 | transcript | ENST00000361786.7 | protein_coding | 2081 | chr14 | TogoVar | ||||||
| CKAP4_chr12_106232881_106253020 | 106237526 | C | CAAAAAAA others(35): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 418 | 0.0024 | 42 | c.*14 others(53): Show |
CKAP4 | ENSG00000136026.14 | transcript | ENST00000378026.5 | protein_coding | 354 | chr12 | TogoVar | ||||||
| CLCN4_chrX_10151975_10242660 | 10216895 | G | GTATATAT others(35): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0148 | 1 | 264 | 0.0038 | 42 | c.197 others(61): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CLCN4_chrX_10151975_10242660 | 10216918 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0151 | 1 | 264 | 0.0038 | 42 | c.197 others(61): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CLDN10_chr13_95547720_95584759 | 95575590 | C | CGTGTGTG others(35): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0124 | 1 | 400 | 0.0025 | 42 | c.465 others(59): Show |
CLDN10 | ENSG00000134873.10 | transcript | ENST00000299339.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CLDN17_chr21_30160565_30171805 | 30170182 | C | CTCTTCTT others(35): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 436 | 0.0023 | 42 | c.-35 others(53): Show |
CLDN17 | ENSG00000156282.5 | transcript | ENST00000286808.5 | protein_coding | 3378 | chr21 | TogoVar | ||||||
| CLDN17_chr21_30160565_30171805 | 30170182 | C | CTCTTCTT others(35): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp1 others(118): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0002others(5): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0010t0002g0000others(5): Show | 121 | 436 | 0.2775 | 42 | c.-35 others(53): Show |
CLDN17 | ENSG00000156282.5 | transcript | ENST00000286808.5 | protein_coding | 3378 | chr21 | TogoVar | ||||||
| CLEC10A_chr17_7069537_7085251 | 7070600 | A | AAAAGAAA others(35): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0027 | 1 | 458 | 0.0022 | 42 | c.*44 others(53): Show |
CLEC10A | ENSG00000132514.14 | transcript | ENST00000416562.7 | protein_coding | 3936 | chr17 | TogoVar | ||||||
| CLEC2B_chr12_9847369_9874354 | 9853071 | A | AAGAAAGA others(35): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0068 | a0001c0001t0064g0175a0001c0001t0068g0168 | 2 | 454 | 0.0044 | 42 | c.*22 others(51): Show |
CLEC2B | ENSG00000110852.5 | transcript | ENST00000228438.3 | protein_coding | 5/5 | 228 | chr12 | TogoVar | |||||
| CLEC2B_chr12_9847369_9874354 | 9853083 | A | AAGAAAGA others(35): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00639.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0057 | a0001c0001t0003g0007a0001c0001t0003g0016a0001c0001t0003g0029others(14): Show | 32 | 454 | 0.0705 | 42 | c.*21 others(51): Show |
CLEC2B | ENSG00000110852.5 | transcript | ENST00000228438.3 | protein_coding | 5/5 | 216 | chr12 | TogoVar | |||||
| CLEC4G_chr19_7723957_7737110 | 7732906 | A | AAAAAAAA others(35): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 432 | 0.0023 | 42 | c.-80 others(51): Show |
CLEC4G | ENSG00000182566.15 | transcript | ENST00000328853.11 | protein_coding | 797 | chr19 | TogoVar | ||||||
| CLEC4G_chr19_7723957_7737110 | 7732906 | A | AAAAAAAA others(35): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 432 | 0.0046 | 42 | c.-80 others(51): Show |
CLEC4G | ENSG00000182566.15 | transcript | ENST00000328853.11 | protein_coding | 797 | chr19 | TogoVar | ||||||
| CLEC4G_chr19_7723957_7737110 | 7732906 | A | AAAAAATA others(35): Show |
upstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 432 | 0.0023 | 42 | c.-80 others(51): Show |
CLEC4G | ENSG00000182566.15 | transcript | ENST00000328853.11 | protein_coding | 797 | chr19 | TogoVar | ||||||
| CLEC4G_chr19_7723957_7737110 | 7732906 | A | AAAATATA others(35): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 432 | 0.0023 | 42 | c.-80 others(51): Show |
CLEC4G | ENSG00000182566.15 | transcript | ENST00000328853.11 | protein_coding | 797 | chr19 | TogoVar | ||||||
| CLIC5_chr6_45893456_46020860 | 45958423 | T | TTTATATA others(35): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 340 | 0.0029 | 42 | c.64- others(57): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
| CLIC5_chr6_45893456_46020860 | 45958435 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0025 | 1 | 340 | 0.0029 | 42 | c.64- others(57): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
| CLN3_chr16_28472279_28497074 | 28492643 | A | AATATATA others(35): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0259 | 1 | 360 | 0.0028 | 42 | c.-70 others(51): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 570 | chr16 | TogoVar | ||||||
| CLNK_chr4_10481395_10689768 | 10654384 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01071.hp1 others(8): Show |
a0001a0004a0006 | a0001c0001a0004c0006a0006c0011 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0003g0005a0001c0001t0005g0004a0001c0001t0005g0296others(8): Show | 11 | 320 | 0.0344 | 42 | c.11+ others(59): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
| CLNK_chr4_10481395_10689768 | 10654393 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG01070.hp2 NA20905.hp1 |
a0003 | a0003c0003 | a0003c0003t0008a0003c0003t0048 | a0003c0003t0008g0115a0003c0003t0048g0110 | 2 | 320 | 0.0063 | 42 | c.11+ others(59): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
| CLPTM1L_chr5_1312752_1350099 | 1314265 | T | TTGCAAGG others(35): Show |
downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 370 | 0.0027 | 42 | c.*41 others(53): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 3486 | chr5 | TogoVar | ||||||
| CLPTM1L_chr5_1312752_1350099 | 1333252 | A | AGATGAGG others(35): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 370 | 0.0027 | 42 | c.891 others(59): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
| CLSTN2_chr3_139930185_140582397 | 140515138 | C | CTAGGTTT others(35): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01433.hp2 others(16): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002others(1): Show | a0001c0006t0004a0001c0006t0031a0001c0008t0009others(8): Show | a0001c0006t0004g0098a0001c0006t0031g0024a0001c0008t0009g0042others(16): Show | 19 | 110 | 0.1727 | 42 | c.134 others(63): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CLUL1_chr18_591988_655182 | 627027 | G | GAGAAAGA others(35): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 414 | 0.0024 | 42 | c.424 others(55): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CLUL1_chr18_591988_655182 | 627030 | A | AGAAAGAG others(35): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216a0001c0001t0001g0299 | 2 | 414 | 0.0048 | 42 | c.424 others(55): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | ||||||
| CMIP_chr16_81439808_81716762 | 81598968 | C | CAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0101 | 1 | 268 | 0.0037 | 42 | c.301 others(59): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CMTM4_chr16_66609750_66701743 | 66633104 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0018 | 1 | 320 | 0.0031 | 42 | c.363 others(59): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
| CNBD1_chr8_86861415_87387859 | 87361689 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 152 | 0.0066 | 42 | c.130 others(61): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CNBP_chr3_129162827_129188896 | 129188530 | G | GCAGCTGC others(35): Show |
upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0267 | 1 | 430 | 0.0023 | 42 | c.-47 others(53): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 4635 | chr3 | TogoVar | ||||||
| CNGA2_chrX_151729746_151750564 | 151742927 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02976.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0112a0003c0003t0002g0117 | 2 | 336 | 0.0060 | 42 | c.590 others(57): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CNGA2_chrX_151729746_151750564 | 151742929 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0030 | 2 | 336 | 0.0060 | 42 | c.590 others(57): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar |