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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(389): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0028 | 1 | 72 | 0.0139 | 396 | c.309 others(415): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61985041 | T | TGTGGTAT others(389): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 72 | 0.0139 | 396 | c.309 others(415): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TCF12_chr15_56913644_57294853 | 57075836 | T | TTTCTTTC others(389): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0016 | 1 | 298 | 0.0034 | 396 | c.222 others(415): Show |
TCF12 | ENSG00000140262.18 | transcript | ENST00000333725.10 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1272785 | C | CCACATCA others(389): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 186 | 0.0054 | 396 | c.228 others(413): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1272985 | C | CAACCGCC others(389): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 82 | 0.0122 | 396 | c.228 others(413): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TFDP1_chr13_113579753_113646473 | 113593582 | G | GTGTGCTG others(389): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18997.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 a0001c0001t0001g0199 |
2 | 346 | 0.0058 | 396 | c.12+ others(411): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
THEG_chr19_356747_381026 | 376879 | C | CCCCACCC others(389): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 325 | 0.0031 | 396 | c.-91 others(405): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 854 | chr19 | TogoVar | |||||||
TLCD3A_chr17_727596_747968 | 727781 | T | TGGGCTCA others(389): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 268 | 0.0037 | 396 | c.-48 others(407): Show |
TLCD3A | ENSG00000167695.15 | transcript | ENST00000308278.13 | protein_coding | 4814 | chr17 | TogoVar | |||||||
TMCO3_chr13_113486021_113555229 | 113543432 | C | CCCCCCCG others(389): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0278 | 1 | 355 | 0.0028 | 396 | c.169 others(415): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747687 | C | CGGGAGGC others(389): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0261 | 1 | 244 | 0.0041 | 396 | c.189 others(411): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM232_chr5_110414496_110731671 | 110610240 | A | AAGGAAGG others(389): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02717.hp2 others(3): Show |
a0001a0015 | a0001c0001a0015c0025 | a0001c0001t0003a0001c0001t0007a0015c0025t0003 | a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0161 others(3): Show |
6 | 43 | 0.1395 | 396 | c.903 others(413): Show |
TMEM232 | ENSG00000186952.15 | transcript | ENST00000455884.7 | protein_coding | 8/13 | chr5 | TogoVar | |||||||
TOLLIP_chr11_1269371_1314632 | 1287478 | A | AGCCTCCC others(389): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0009 | a0001c0009t0017 | a0001c0009t0017g0083 | 1 | 342 | 0.0029 | 396 | c.519 others(413): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
TOR4A_chr9_137272726_137287641 | 137273768 | A | AATAATTT others(389): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01074.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0001 |
3 | 4 | 0.7500 | 396 | c.-41 others(407): Show |
TOR4A | ENSG00000198113.3 | transcript | ENST00000357503.3 | protein_coding | 3957 | chr9 | TogoVar | |||||||
TOR4A_chr9_137272726_137287641 | 137273768 | A | AATAATTT others(389): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 NA18995.hp1 NA19064.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0001 a0001c0001t0005g0001 |
4 | 5 | 0.8000 | 396 | c.-41 others(407): Show |
TOR4A | ENSG00000198113.3 | transcript | ENST00000357503.3 | protein_coding | 3957 | chr9 | TogoVar | |||||||
TOR4A_chr9_137272726_137287641 | 137273768 | A | AATAATTT others(389): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 2 | 0.5000 | 396 | c.-41 others(407): Show |
TOR4A | ENSG00000198113.3 | transcript | ENST00000357503.3 | protein_coding | 3957 | chr9 | TogoVar | |||||||
TOR4A_chr9_137272726_137287641 | 137273768 | A | AATAATTT others(389): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0007a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(34): Show |
238 | 239 | 0.9958 | 396 | c.-41 others(407): Show |
TOR4A | ENSG00000198113.3 | transcript | ENST00000357503.3 | protein_coding | 3957 | chr9 | TogoVar | |||||||
TOR4A_chr9_137272726_137287641 | 137273768 | A | AATAATTT others(389): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 2 | 0.5000 | 396 | c.-41 others(407): Show |
TOR4A | ENSG00000198113.3 | transcript | ENST00000357503.3 | protein_coding | 3957 | chr9 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930908 | C | CAGGGGTT others(389): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 NA19089.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0004 | a0001c0001t0001g0008 a0001c0006t0004g0073 |
2 | 294 | 0.0068 | 396 | c.*46 others(407): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4461 | chr11 | TogoVar | |||||||
TRIM2_chr4_153199443_153344317 | 153222058 | A | AAGGAAGG others(389): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0172 | 1 | 87 | 0.0115 | 396 | c.30+ others(413): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TRIM2_chr4_153199443_153344317 | 153222058 | A | AAGGAAGG others(389): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 87 | 0.0115 | 396 | c.30+ others(413): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TRIM2_chr4_153199443_153344317 | 153222058 | A | AAGGAAGG others(389): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0125 a0001c0001t0001g0162 a0001c0001t0001g0179 others(66): Show |
69 | 155 | 0.4452 | 396 | c.30+ others(413): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TRIM2_chr4_153199443_153344317 | 153222058 | A | AAGGAAGG others(389): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0215 | 1 | 87 | 0.0115 | 396 | c.30+ others(413): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TRPV3_chr17_3505502_3562812 | 3519602 | C | CTGGATGG others(389): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0018 | a0001c0018t0006 | a0001c0018t0006g0153 | 1 | 35 | 0.0286 | 396 | c.181 others(413): Show |
TRPV3 | ENSG00000167723.15 | transcript | ENST00000576742.6 | protein_coding | 14/17 | chr17 | TogoVar | |||||||
TRPV3_chr17_3505502_3562812 | 3519764 | A | AGATGGAT others(389): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02970.hp2 others(1): Show |
a0005a0008 | a0005c0038a0008c0031a0008c0051 | a0005c0038t0017a0008c0031t0008a0008c0051t0006 | a0005c0038t0017g0188 a0005c0038t0017g0189 a0008c0031t0008g0222 others(1): Show |
4 | 397 | 0.0101 | 396 | c.181 others(413): Show |
TRPV3 | ENSG00000167723.15 | transcript | ENST00000576742.6 | protein_coding | 14/17 | chr17 | TogoVar | |||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(389): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 8 | 0.1250 | 396 | c.657 others(411): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(389): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 8 | 0.1250 | 396 | c.657 others(411): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222038 | C | CCACCACC others(389): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 350 | 0.0029 | 396 | c.*27 others(407): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2238 | chr6 | TogoVar | |||||||
UBE2J2_chr1_1248912_1278854 | 1248971 | G | GCGAGGGA others(389): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 254 | 0.0039 | 396 | c.*62 others(407): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4940 | chr1 | TogoVar | |||||||
UBE2J2_chr1_1248912_1278854 | 1249037 | G | GCGAGGGA others(389): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 83 | 0.0120 | 396 | c.*61 others(407): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4874 | chr1 | TogoVar | |||||||
UBE2J2_chr1_1248912_1278854 | 1249037 | G | GCGAGGGA others(389): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(40): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0262 a0001c0001t0002g0003 a0001c0001t0002g0004 others(38): Show |
43 | 125 | 0.3440 | 396 | c.*61 others(407): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4874 | chr1 | TogoVar | |||||||
UBE2J2_chr1_1248912_1278854 | 1249037 | G | GCGAGGGA others(389): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 83 | 0.0120 | 396 | c.*61 others(407): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4874 | chr1 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(389): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 74 | 0.0135 | 396 | c.218 others(413): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679372 | T | TACATGTT others(389): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0034 | 1 | 71 | 0.0141 | 396 | c.82+ others(411): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UNC5C_chr4_95157504_95553973 | 95196757 | A | ATATATAT others(389): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0155 | 1 | 59 | 0.0169 | 396 | c.213 others(415): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
VCX2_chrX_8164944_8176267 | 8169228 | C | CCTCTTCC others(389): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 109 | 0.0092 | 396 | c.*80 others(405): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 715 | chrX | TogoVar | |||||||
VPS16_chr20_2835745_2871732 | 2842868 | A | AGATAGAT others(389): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 301 | 0.0033 | 396 | c.53+ others(411): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ZNF16_chr8_144925358_144955880 | 144946552 | G | GGGTCTGT others(389): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 | 1 | 318 | 0.0031 | 396 | c.-9- others(409): Show |
ZNF16 | ENSG00000170631.15 | transcript | ENST00000394909.7 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
ZNF732_chr4_265675_310474 | 299342 | A | AGTATATA others(389): Show |
intron_variant | MODIFIER | HG03471.hp1 HG06807.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0009 | 2 | 323 | 0.0062 | 396 | c.4-3 others(409): Show |
ZNF732 | ENSG00000186777.13 | transcript | ENST00000419098.6 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ZNF862_chr7_149833375_149872479 | 149858908 | A | ATGGGCCA others(389): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0062 | 1 | 92 | 0.0109 | 396 | c.111 others(413): Show |
ZNF862 | ENSG00000106479.11 | transcript | ENST00000223210.5 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZNF862_chr7_149833375_149872479 | 149859070 | C | CGCGTGGG others(389): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0080 | 1 | 202 | 0.0050 | 396 | c.111 others(413): Show |
ZNF862 | ENSG00000106479.11 | transcript | ENST00000223210.5 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AK1_chr9_127861486_127882675 | 127882566 | G | GGAAAGGA others(390): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 15 | 0.0667 | 397 | c.-49 others(408): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 4892 | chr9 | TogoVar | |||||||
AK1_chr9_127861486_127882675 | 127882566 | G | GGAAAGGA others(390): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 HG02738.hp1 HG04204.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0018 a0002c0002t0002g0039 a0002c0002t0002g0125 |
3 | 17 | 0.1765 | 397 | c.-49 others(408): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 4892 | chr9 | TogoVar | |||||||
ARHGDIG_chr16_275591_288010 | 285909 | C | CCCAACCC others(390): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0007 | 1 | 420 | 0.0024 | 397 | c.*30 others(408): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 2900 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 285909 | C | CCCAACCC others(390): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0084 | 1 | 360 | 0.0028 | 397 | c.*22 others(408): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1530 | chr16 | TogoVar | |||||||
BCL2L1_chr20_31659458_31727868 | 31689270 | G | GGGAAGGG others(390): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03041.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 |
3 | 6 | 0.5000 | 397 | c.565 others(416): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
BCL2L1_chr20_31659458_31727868 | 31689275 | G | GGGTAGGG others(390): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 184 | 0.0054 | 397 | c.565 others(416): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
CACNA1I_chr22_39565753_39694735 | 39602018 | C | CTCCCTCC others(390): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0004 | a0004c0006 | a0004c0006t0014 | a0004c0006t0014g0217 | 1 | 22 | 0.0455 | 397 | c.482 others(414): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54970467 | G | GTTCCTCA others(390): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 3 | 0.3333 | 397 | c.255 others(414): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 29/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 53990710 | T | TCCAGGCC others(390): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG01257.hp1 HG01258.hp2 others(8): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(5): Show | a0001c0001t0001g0182 a0001c0001t0002g0340 a0001c0001t0022g0248 others(8): Show |
11 | 157 | 0.0701 | 397 | c.-21 others(408): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 926 | chr19 | TogoVar | |||||||
CACNG8_chr19_53957937_53995215 | 53990710 | T | TCCAGGCC others(390): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG01257.hp2 HG01258.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0021a0001c0001t0037a0001c0001t0069others(5): Show | a0001c0001t0021g0181 a0001c0001t0021g0193 a0001c0001t0021g0252 others(8): Show |
11 | 147 | 0.0748 | 397 | c.*78 others(408): Show |
CACNG8 | ENSG00000142408.7 | transcript | ENST00000270458.4 | protein_coding | 496 | chr19 | TogoVar |