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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C8orf82_chr8_144520733_144534111 | 144531242 | C | CAGGGCAG others(45): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01123.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0014 | a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0002g0033 others(1): Show |
6 | 398 | 0.0151 | 52 | c.-23 others(63): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2132 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531242 | C | CAGGGCAG others(45): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 398 | 0.0025 | 52 | c.-23 others(63): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2132 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531244 | G | GGGCAGGG others(45): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 398 | 0.0025 | 52 | c.-23 others(63): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2134 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531301 | C | CAGGGCAG others(45): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 NA20300.hp1 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0010 | 2 | 398 | 0.0050 | 52 | c.-23 others(63): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2191 | chr8 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49327479 | T | TTTTTAGT others(45): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0134 | 1 | 324 | 0.0031 | 52 | c.834 others(69): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49441228 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0005t0004 | a0001c0001t0001g0064 a0001c0001t0004g0062 a0001c0001t0004g0063 others(1): Show |
4 | 324 | 0.0124 | 52 | c.-24 others(71): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
CABLES2_chr20_62383634_62412285 | 62406703 | A | ACCTCTGT others(45): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02055.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0008 | a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0004t0008g0033 others(1): Show |
6 | 400 | 0.0150 | 52 | c.362 others(67): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CACFD1_chr9_133454978_133475848 | 133460459 | A | AGGGCGGG others(45): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 420 | 0.0024 | 52 | c.121 others(67): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACFD1_chr9_133454978_133475848 | 133460463 | C | CGGGGGGG others(45): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 420 | 0.0024 | 52 | c.121 others(67): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13255713 | C | CTCCCTCC others(45): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0039 | a0039c0083 | a0039c0083t0005 | a0039c0083t0005g0168 | 1 | 218 | 0.0046 | 52 | c.459 others(69): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 28/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13413884 | A | AAGAAAAG others(45): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01934.hp1 |
a0001a0012 | a0001c0001a0012c0109 | a0001c0001t0004a0012c0109t0008 | a0001c0001t0004g0155 a0012c0109t0008g0036 |
2 | 218 | 0.0092 | 52 | c.539 others(71): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13413888 | A | AAGAAAAG others(45): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0014 | a0014c0120 | a0014c0120t0004 | a0014c0120t0004g0066 | 1 | 218 | 0.0046 | 52 | c.539 others(71): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2059429 | G | GAAGCCGA others(45): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0034 | 1 | 104 | 0.0096 | 52 | c.49+ others(67): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2105977 | G | GGGCATCC others(45): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0024 | 1 | 104 | 0.0096 | 52 | c.50- others(67): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185607 | G | GGGCCGGG others(45): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02630.hp2 others(2): Show |
a0002a0014a0015 | a0002c0010a0014c0026a0015c0017 | a0002c0010t0001a0014c0026t0003a0015c0017t0003 | a0002c0010t0001g0019 a0014c0026t0003g0109 a0015c0017t0003g0107 others(2): Show |
5 | 338 | 0.0148 | 52 | c.300 others(69): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185607 | G | GGGCCGGG others(45): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 338 | 0.0030 | 52 | c.300 others(69): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36653450 | A | AGTGCCTC others(45): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01516.hp2 HG01884.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(18): Show | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0035 others(26): Show |
29 | 214 | 0.1355 | 52 | c.211 others(71): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36653486 | C | CGGGCTGG others(45): Show |
intron_variant | MODIFIER | HG02970.hp1 HG02976.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0041a0001c0001t0045a0001c0001t0046others(1): Show | a0001c0001t0041g0010 a0001c0001t0045g0027 a0001c0001t0046g0011 others(1): Show |
4 | 214 | 0.0187 | 52 | c.211 others(71): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36653499 | G | GTGTGTGC others(45): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0200 | 1 | 214 | 0.0047 | 52 | c.211 others(71): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG6_chr19_53986637_54017666 | 54011205 | A | AAAAAAAA others(45): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 430 | 0.0023 | 52 | c.545 others(67): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53920028 | C | CTTGCCCC others(45): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 364 | 0.0028 | 52 | c.424 others(69): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53920865 | T | TCTGGTAT others(45): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0316 | 1 | 364 | 0.0028 | 52 | c.424 others(69): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85431860 | C | CATATATA others(45): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0009g0037 |
3 | 146 | 0.0206 | 52 | c.62- others(71): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85431860 | C | CATATGTA others(45): Show |
intron_variant | MODIFIER | HG03239.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0099 |
2 | 146 | 0.0137 | 52 | c.62- others(71): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122705879 | A | AATAAATA others(45): Show |
intron_variant | MODIFIER | HG02965.hp2 HG02970.hp1 HG03130.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0066 others(3): Show |
6 | 126 | 0.0476 | 52 | c.453 others(71): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122705879 | A | AATAAATA others(45): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0086 | 1 | 126 | 0.0079 | 52 | c.453 others(71): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62446932 | T | TCATGCCA others(45): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 160 | 0.0063 | 52 | c.363 others(71): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 26/29 | chr3 | TogoVar | |||||||
CALD1_chr7_134774634_134975729 | 134929621 | C | CACACACA others(45): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03540.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0253 a0002c0002t0004g0254 |
2 | 262 | 0.0076 | 52 | c.218 others(67): Show |
CALD1 | ENSG00000122786.20 | transcript | ENST00000361675.7 | protein_coding | 4/14 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72106698 | G | GAGGAAGG others(45): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 142 | 0.0070 | 52 | c.245 others(67): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72271575 | A | AAAAAAAA others(45): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0002 | 1 | 142 | 0.0070 | 52 | c.244 others(69): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72338527 | G | GTGTGTGT others(45): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 142 | 0.0070 | 52 | c.120 others(71): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 2/6 | chr7 | TogoVar | |||||||
CAMKMT_chr2_44356947_44777592 | 44588872 | T | TGGGGGGG others(45): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0183 a0001c0001t0002g0044 |
2 | 198 | 0.0101 | 52 | c.377 others(73): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMLG_chr5_134733548_134757157 | 134749981 | A | AGGGGGGG others(45): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068 | 1 | 366 | 0.0027 | 52 | c.700 others(67): Show |
CAMLG | ENSG00000164615.6 | transcript | ENST00000297156.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30796146 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02897.hp1 HG03098.hp1 others(3): Show |
a0001a0014 | a0001c0001a0014c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0090 a0001c0001t0002g0061 a0001c0001t0002g0068 others(3): Show |
6 | 384 | 0.0156 | 52 | c.-32 others(69): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30796185 | C | CATATATA others(45): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 384 | 0.0026 | 52 | c.-32 others(69): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30796186 | A | ACATATAT others(45): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0242 | 1 | 384 | 0.0026 | 52 | c.-32 others(69): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30800122 | A | AAGAAAGA others(45): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0261 | 1 | 384 | 0.0026 | 52 | c.-33 others(69): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 550778 | T | TCCCCGGT others(45): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0389 | 1 | 410 | 0.0024 | 52 | c.206 others(69): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19366283 | A | AATATATA others(45): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 364 | 0.0028 | 52 | c.330 others(69): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
CARF_chr2_202907275_202993263 | 202986883 | T | TATACGTA others(45): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp1 | a0006 | a0006c0010 | a0006c0010t0107 | a0006c0010t0107g0026 | 1 | 334 | 0.0030 | 52 | c.*32 others(63): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3263 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202986885 | T | TATATACA others(45): Show |
3_prime_UTR_variant | MODIFIER | HG02486.hp1 HG03831.hp2 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0047 a0001c0001t0025g0074 a0001c0001t0025g0091 |
3 | 334 | 0.0090 | 52 | c.*32 others(63): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3267 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202986885 | T | TATATACA others(45): Show |
3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG02602.hp1 HG03704.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0072 | a0001c0001t0014g0073 a0001c0001t0014g0102 a0001c0001t0014g0103 others(3): Show |
6 | 334 | 0.0180 | 52 | c.*32 others(63): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3267 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202986887 | T | TATACATA others(45): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0032 | 1 | 334 | 0.0030 | 52 | c.*32 others(63): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3267 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202986887 | T | TATACATA others(45): Show |
3_prime_UTR_variant | MODIFIER | HG00609.hp2 HG01099.hp1 HG01255.hp2 others(21): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0061a0001c0005t0092 | a0001c0001t0002g0005 a0001c0001t0002g0036 a0001c0001t0002g0082 others(20): Show |
24 | 334 | 0.0719 | 52 | c.*32 others(63): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3267 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202986887 | T | TATATACA others(45): Show |
3_prime_UTR_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0071 | 1 | 334 | 0.0030 | 52 | c.*32 others(63): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3269 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25313683 | G | GCATATAT others(45): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 NA18945.hp2 others(1): Show |
a0001a0005 | a0001c0003a0001c0004a0001c0018others(1): Show | a0001c0003t0002a0001c0004t0002a0001c0018t0001others(1): Show | a0001c0003t0002g0052 a0001c0004t0002g0015 a0001c0018t0001g0094 others(1): Show |
4 | 186 | 0.0215 | 52 | c.138 others(71): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25450980 | T | TCCTCTCC others(45): Show |
intron_variant | MODIFIER | NA18943.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0080 a0001c0001t0005g0095 |
2 | 186 | 0.0108 | 52 | c.614 others(67): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25459210 | T | TTTTCTTT others(45): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0013 | a0002c0013t0010 | a0002c0013t0010g0047 | 1 | 186 | 0.0054 | 52 | c.615 others(69): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARS1_chr11_2995929_3062423 | 3031996 | T | TTCCTTCC others(45): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 321 | 0.0031 | 52 | c.802 others(69): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110677538 | T | TCAGACAG others(45): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02486.hp1 HG02572.hp1 others(7): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0009t0002 | a0001c0003t0001g0018 a0001c0003t0001g0233 a0001c0003t0001g0246 others(6): Show |
10 | 372 | 0.0269 | 52 | c.656 others(67): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar |