| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP11A_chr13_112685038_112892168 | 112714047 | G | GACCCCTG others(341): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02559.hp2 others(5): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0023a0001c0002t0004a0001c0002t0034others(4): Show | a0001c0001t0023g0157a0001c0001t0023g0158a0001c0002t0004g0041others(5): Show | 8 | 254 | 0.0315 | 348 | c.39+ others(365): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70608759 | T | TGTTACTT others(341): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0070 | 1 | 76 | 0.0132 | 348 | c.691 others(367): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BACH2_chr6_89921528_90301843 | 90020581 | T | TAAGAAAT others(341): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0094 | a0001c0003t0094g0059 | 1 | 194 | 0.0052 | 348 | c.-12 others(367): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | ||||||
| BCL11A_chr2_60452194_60558654 | 60467318 | G | GTGGTGAT others(341): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0138 | 1 | 262 | 0.0038 | 348 | c.487 others(365): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| C2orf80_chr2_208160347_208195030 | 208176907 | G | GTATACAT others(341): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0279 | 1 | 342 | 0.0029 | 348 | c.366 others(365): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
| C4orf19_chr4_37448925_37598510 | 37585204 | A | ATTGAGGG others(341): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0013 | a0001c0001t0011g0111a0001c0001t0011g0134a0001c0001t0011g0283others(2): Show | 5 | 354 | 0.0141 | 348 | c.-22 others(365): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| C4orf19_chr4_37448925_37598510 | 37585313 | C | CAGAGGTG others(341): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0331a0001c0001t0030g0336 | 2 | 354 | 0.0057 | 348 | c.-22 others(365): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| C4orf19_chr4_37448925_37598510 | 37585351 | T | TGAGGGAG others(341): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 354 | 0.0028 | 348 | c.-22 others(365): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| C4orf19_chr4_37448925_37598510 | 37585351 | T | TGAGGGAG others(341): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 354 | 0.0028 | 348 | c.-22 others(365): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| C4orf19_chr4_37448925_37598510 | 37585534 | G | GGAGGGGA others(341): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0117 | 1 | 354 | 0.0028 | 348 | c.-22 others(365): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| C9orf85_chr9_71906639_71978457 | 71929860 | T | TAAACTTA others(341): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152a0001c0001t0001g0225 | 2 | 250 | 0.0080 | 348 | c.103 others(367): Show |
C9orf85 | ENSG00000155621.15 | transcript | ENST00000334731.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CACNA1A_chr19_13201442_13511479 | 13381387 | A | AGACCCTG others(341): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0008 | a0008c0012 | a0008c0012t0003 | a0008c0012t0003g0091 | 1 | 218 | 0.0046 | 348 | c.540 others(365): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
| CACNA1H_chr16_1148106_1226768 | 1185667 | G | GGAGGCAG others(341): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0299 | 1 | 338 | 0.0030 | 348 | c.300 others(365): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185667 | G | GGAGGCGG others(341): Show |
intron_variant | MODIFIER | NA19005.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0052a0001c0001t0005g0269 | 2 | 338 | 0.0059 | 348 | c.300 others(365): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185667 | G | GGAGGCGG others(341): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(51): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0087a0001c0091others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(50): Show | 54 | 338 | 0.1598 | 348 | c.300 others(365): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185667 | G | GGAGGCGG others(341): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 338 | 0.0030 | 348 | c.300 others(365): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185689 | G | GGGTGAGT others(341): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0078 | 1 | 338 | 0.0030 | 348 | c.300 others(365): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNG7_chr19_53904278_53948950 | 53921634 | T | TCCCAGGC others(341): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0316 | 1 | 364 | 0.0028 | 348 | c.424 others(365): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CALCOCO2_chr17_48826035_48870245 | 48858046 | A | ATAGAATA others(341): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0031 | 1 | 328 | 0.0031 | 348 | c.100 others(367): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | chr17 | TogoVar | ||||||
| CALHM5_chr6_116506639_116529788 | 116522977 | T | TAAAATGT others(341): Show |
3_prime_UTR_variant | MODIFIER | HG03041.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0101a0001c0001t0141 | a0001c0001t0101g0002a0001c0001t0141g0002 | 2 | 402 | 0.0050 | 348 | c.*70 others(359): Show |
CALHM5 | ENSG00000178033.6 | transcript | ENST00000368599.4 | protein_coding | 2/2 | 7005 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
| CAMK2B_chr7_44212154_44330594 | 44328554 | A | AGTGATGG others(341): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(145): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0193a0001c0001t0002g0020a0001c0001t0002g0076others(140): Show | 148 | 242 | 0.6116 | 348 | c.-31 others(359): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 2961 | chr7 | TogoVar | ||||||
| CAMK2B_chr7_44212154_44330594 | 44328554 | A | AGTGATGG others(341): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0035 | 1 | 242 | 0.0041 | 348 | c.-31 others(359): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 2961 | chr7 | TogoVar | ||||||
| CAPN15_chr16_522712_559636 | 550778 | T | TCCCCGGT others(341): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0011 | a0011c0027 | a0011c0027t0024 | a0011c0027t0024g0273 | 1 | 410 | 0.0024 | 348 | c.206 others(365): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CBFA2T3_chr16_88869858_88982207 | 88975155 | T | TCCACCCT others(341): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 284 | 0.0035 | 348 | c.151 others(365): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
| CCDC63_chr12_110841987_110912535 | 110905917 | A | ATATAAAA others(341): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 288 | 0.0035 | 348 | c.154 others(367): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CCSER1_chr4_90122394_91610295 | 90372928 | T | TAAAGAAA others(341): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 38 | 0.0263 | 348 | c.151 others(369): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CD109_chr6_73691203_73833313 | 73795114 | C | CAAGATTT others(341): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0316 | 1 | 362 | 0.0028 | 348 | c.287 others(367): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 23/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(341): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0023 | 1 | 442 | 0.0023 | 348 | c.*27 others(359): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | ||||||
| CDHR2_chr5_176544342_176600824 | 176591689 | A | ATGATGGT others(341): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01934.hp2 HG01975.hp2 others(13): Show |
a0003a0009a0015 | a0003c0002a0003c0036a0009c0015others(1): Show | a0003c0002t0001a0003c0036t0001a0009c0015t0001others(1): Show | a0003c0002t0001g0019a0003c0002t0001g0072a0003c0002t0001g0106others(12): Show | 16 | 344 | 0.0465 | 348 | c.373 others(365): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CDK19_chr6_110604978_110820469 | 110666104 | C | CAAAGAAT others(341): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0114 | 1 | 300 | 0.0033 | 348 | c.456 others(365): Show |
CDK19 | ENSG00000155111.15 | transcript | ENST00000368911.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
| CENPJ_chr13_24877279_24927861 | 24881903 | G | GATATATA others(341): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0008 | 1 | 440 | 0.0023 | 348 | c.*12 others(359): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 375 | chr13 | TogoVar | ||||||
| CENPJ_chr13_24877279_24927861 | 24882001 | T | TATAGATA others(341): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 440 | 0.0023 | 348 | c.*11 others(359): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 277 | chr13 | TogoVar | ||||||
| CFAP44_chr3_113281930_113446493 | 113328300 | A | ATCTCTTT others(341): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0054 | 1 | 348 | 0.0029 | 348 | c.411 others(365): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132888742 | C | CCCTGCCA others(341): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG02280.hp1 others(5): Show |
a0017a0021a0022others(5): Show | a0017c0094a0021c0016a0022c0042others(5): Show | a0017c0094t0001a0021c0016t0001a0022c0042t0001others(5): Show | a0017c0094t0001g0119a0021c0016t0001g0170a0022c0042t0001g0166others(5): Show | 8 | 246 | 0.0325 | 348 | c.330 others(367): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
| CFAP61_chr20_20047532_20365698 | 20355435 | G | GTACTCAC others(341): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(83): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0006others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0187a0001c0001t0002g0035a0001c0001t0002g0036others(83): Show | 86 | 236 | 0.3644 | 348 | c.351 others(367): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CHM_chrX_85856180_86052558 | 85911163 | G | GTGTGTAT others(341): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18984.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0049a0001c0002t0002g0073 | 2 | 245 | 0.0082 | 348 | c.124 others(363): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | ||||||
| CIP2A_chr3_108544864_108594438 | 108575619 | T | TGTATATA others(341): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0305 | 1 | 372 | 0.0027 | 348 | c.894 others(363): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | ||||||
| CIP2A_chr3_108544864_108594438 | 108575721 | T | TGTATATA others(341): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0142 | 1 | 372 | 0.0027 | 348 | c.894 others(363): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | ||||||
| CLPTM1L_chr5_1312752_1350099 | 1329574 | T | TTGGTGGA others(341): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG01255.hp2 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0002 | a0001c0001t0002g0002a0001c0009t0002g0270 | 4 | 370 | 0.0108 | 348 | c.108 others(365): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | ||||||
| CNBD2_chr20_35963590_36035700 | 35975453 | A | ACCACGCC others(341): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0013 | a0013c0012 | a0013c0012t0001 | a0013c0012t0001g0237 | 1 | 268 | 0.0037 | 348 | c.190 others(363): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124811988 | T | TATTTATA others(341): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 64 | 0.0156 | 348 | c.321 others(369): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124811988 | T | TATTTATA others(341): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02257.hp2 HG02717.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0005g0040others(7): Show | 10 | 64 | 0.1563 | 348 | c.321 others(369): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124812017 | T | TATTTATA others(341): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02723.hp2 HG02897.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0007a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0007g0039a0001c0002t0001g0064a0001c0002t0002g0060others(2): Show | 5 | 64 | 0.0781 | 348 | c.321 others(369): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COL21A1_chr6_56051590_56252580 | 56098628 | T | TATATAAA others(341): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0067 | 1 | 264 | 0.0038 | 348 | c.181 others(367): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
| COL4A1_chr13_110143963_110312157 | 110255668 | C | CAAGAAGG others(341): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0195 | 1 | 344 | 0.0029 | 348 | c.85- others(365): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
| COL6A2_chr21_46093112_46137848 | 46135873 | T | TCCCTCCC others(341): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0008 | a0008c0027 | a0008c0027t0003 | a0008c0027t0003g0013 | 2 | 364 | 0.0055 | 348 | c.*33 others(359): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3026 | chr21 | TogoVar | ||||||
| COQ2_chr4_83258824_83289798 | 83278090 | T | TAAAAGGT others(341): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0055 | 1 | 344 | 0.0029 | 348 | c.420 others(363): Show |
COQ2 | ENSG00000173085.15 | transcript | ENST00000647002.2 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
| CREB1_chr2_207524962_207610988 | 207607677 | T | TATCATAC others(341): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0256 | 1 | 308 | 0.0033 | 348 | c.*10 others(361): Show |
CREB1 | ENSG00000118260.15 | transcript | ENST00000353267.8 | protein_coding | 1690 | chr2 | TogoVar | ||||||
| CROT_chr7_87340664_87404794 | 87351513 | A | ATTAGCTC others(341): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0015 | 2 | 282 | 0.0071 | 348 | c.115 others(365): Show |
CROT | ENSG00000005469.12 | transcript | ENST00000331536.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CSNK1D_chr17_82237667_82278700 | 82260262 | T | TGTGACTG others(341): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 320 | 0.0031 | 348 | c.188 others(365): Show |
CSNK1D | ENSG00000141551.15 | transcript | ENST00000314028.11 | protein_coding | 2/8 | chr17 | TogoVar |