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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNG2_chr22_36555857_36708752 | 36706226 | C | CTCTTCTT others(44): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0072 | a0001c0001t0008g0150a0001c0001t0072g0148 | 2 | 214 | 0.0094 | 51 | c.-36 others(62): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 2475 | chr22 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36706226 | C | CTCTTCTT others(44): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0146 | 1 | 214 | 0.0047 | 51 | c.-36 others(62): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 2475 | chr22 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36706226 | C | CTCTTCTT others(44): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0194 | 1 | 214 | 0.0047 | 51 | c.-36 others(62): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 2475 | chr22 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36706233 | T | TCTTCTTC others(44): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG02523.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0081 | a0001c0001t0003g0141a0001c0001t0003g0145a0001c0001t0006g0156others(2): Show | 5 | 214 | 0.0234 | 51 | c.-36 others(62): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 2482 | chr22 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 54011205 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 430 | 0.0023 | 51 | c.545 others(66): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53906084 | C | CCTCCTCC others(44): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0052 | 1 | 364 | 0.0028 | 51 | c.-34 others(62): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3193 | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53906084 | C | CCTCCTCC others(44): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 364 | 0.0028 | 51 | c.-34 others(62): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3193 | chr19 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12694083 | G | GTATAATA others(44): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0035 | 1 | 214 | 0.0047 | 51 | c.299 others(70): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12694088 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0086 | 1 | 214 | 0.0047 | 51 | c.299 others(70): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12694101 | A | ATTATATA others(44): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01433.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0071a0001c0001t0002g0193a0001c0001t0003g0167others(4): Show | 7 | 214 | 0.0327 | 51 | c.299 others(70): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | chr10 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44410218 | T | TAGCTTAG others(44): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 198 | 0.0051 | 51 | c.376 others(70): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44410218 | T | TAGCTTAG others(44): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(117): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0015others(117): Show | 120 | 198 | 0.6061 | 51 | c.376 others(70): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44410218 | T | TAGCTTAG others(44): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01106.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0037a0001c0001t0001g0039a0001c0001t0001g0040others(12): Show | 15 | 198 | 0.0758 | 51 | c.376 others(70): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44410245 | A | AGTCTATA others(44): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 198 | 0.0051 | 51 | c.376 others(70): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44588600 | T | TGGGGGGG others(44): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02559.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0144a0001c0001t0003g0038a0001c0001t0003g0121others(2): Show | 5 | 198 | 0.0253 | 51 | c.377 others(72): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44588822 | T | TGGGGGGG others(44): Show |
intron_variant | MODIFIER | HG03579.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0076a0001c0001t0002g0022 | 2 | 198 | 0.0101 | 51 | c.377 others(72): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAND2_chr3_12791680_12839803 | 12838567 | C | CCTACAAA others(44): Show |
downstream_gene_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0295 | 1 | 378 | 0.0027 | 51 | c.*45 others(62): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 3765 | chr3 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004330 | G | GTTAGGGA others(44): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0094 | 1 | 394 | 0.0025 | 51 | c.-14 others(70): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CANX_chr5_179693967_179736641 | 179710707 | C | CAAAAAAA others(44): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0070 | 1 | 380 | 0.0026 | 51 | c.721 others(66): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181574 | C | CCACACTC others(44): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0235 | 1 | 460 | 0.0022 | 51 | c.193 others(68): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181824 | C | CCACACTC others(44): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 460 | 0.0022 | 51 | c.193 others(68): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544718 | T | TCGTCTCC others(44): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0339 | 1 | 410 | 0.0024 | 51 | c.-22 others(68): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544874 | T | TCACGTCG others(44): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0391 | 1 | 410 | 0.0024 | 51 | c.-22 others(68): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN5_chr11_77061971_77131155 | 77098582 | C | CGGCTGGC others(44): Show |
intron_variant | MODIFIER | HG00597.hp1 HG03831.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0088a0001c0001t0002g0218a0001c0001t0009g0081 | 3 | 382 | 0.0079 | 51 | c.297 others(68): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN6_chrX_111240099_111275483 | 111270389 | C | CCTGCTGC others(44): Show |
5_prime_UTR_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0035 | 1 | 242 | 0.0041 | 51 | c.-35 others(58): Show |
CAPN6 | ENSG00000077274.9 | transcript | ENST00000324068.2 | protein_coding | 1/13 | 6454 | chrX | TogoVar | |||||
CARD19_chr9_93091217_93118283 | 93115945 | G | GCTAAGCT others(44): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0014 | 1 | 358 | 0.0028 | 51 | c.*28 others(62): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 2663 | chr9 | TogoVar | ||||||
CARD9_chr9_136358956_136378669 | 136378012 | C | CCCAGGTC others(44): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 406 | 0.0025 | 51 | c.-45 others(62): Show |
CARD9 | ENSG00000187796.16 | transcript | ENST00000371732.10 | protein_coding | 4344 | chr9 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25450975 | T | TCTCTCTT others(44): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0004 | a0004c0011 | a0004c0011t0003 | a0004c0011t0003g0113 | 1 | 186 | 0.0054 | 51 | c.614 others(66): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25450975 | T | TTCTCTCC others(44): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01074.hp1 HG01433.hp2 others(4): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0013 | a0001c0006t0001a0001c0006t0003a0001c0006t0004others(3): Show | a0001c0006t0001g0126a0001c0006t0003g0049a0001c0006t0003g0069others(4): Show | 7 | 186 | 0.0376 | 51 | c.614 others(66): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25459267 | T | TTTCTTTC others(44): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 186 | 0.0054 | 51 | c.615 others(68): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CASR_chr3_122178668_122296629 | 122252448 | A | AGAAAGAA others(44): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01243.hp2 HG02280.hp1 others(4): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0032a0003c0004t0008others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0088a0001c0001t0032g0187others(3): Show | 7 | 314 | 0.0223 | 51 | c.-24 others(70): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CATSPER4_chr1_26185602_26207964 | 26206481 | A | AAAGAAAG others(44): Show |
downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0033 | 1 | 398 | 0.0025 | 51 | c.*39 others(62): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 3518 | chr1 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5733307 | T | TTTCTTTC others(44): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 336 | 0.0030 | 51 | c.277 others(66): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244621167 | A | ATATATAG others(44): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 206 | 0.0049 | 51 | c.264 others(70): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CCDC105_chr19_15005726_15028276 | 15018713 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 | 1 | 440 | 0.0023 | 51 | c.676 others(68): Show |
CCDC105 | ENSG00000160994.4 | transcript | ENST00000292574.4 | protein_coding | 2/6 | chr19 | TogoVar | ||||||
CCDC105_chr19_15005726_15028276 | 15018715 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0087 | 1 | 440 | 0.0023 | 51 | c.676 others(68): Show |
CCDC105 | ENSG00000160994.4 | transcript | ENST00000292574.4 | protein_coding | 2/6 | chr19 | TogoVar | ||||||
CCDC125_chr5_69275175_69337801 | 69325899 | G | GTGATGGC others(44): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 341 | 0.0029 | 51 | c.-40 others(68): Show |
CCDC125 | ENSG00000183323.13 | transcript | ENST00000396496.7 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
CCDC187_chr9_136244973_136309094 | 136259302 | G | GGGGGGAG others(44): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0083 | a0083c0199 | a0083c0199t0003 | a0083c0199t0003g0330 | 1 | 400 | 0.0025 | 51 | c.429 others(66): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 21/25 | chr9 | TogoVar | ||||||
CCDC200_chr17_43216420_43233623 | 43225677 | A | AAGTATAT others(44): Show |
intron_variant | MODIFIER | HG03688.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232a0001c0001t0002g0233 | 2 | 334 | 0.0060 | 51 | c.106 others(68): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
CCDC200_chr17_43216420_43233623 | 43225693 | T | TATATATA others(44): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142 | 1 | 334 | 0.0030 | 51 | c.106 others(68): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
CCDC200_chr17_43216420_43233623 | 43225693 | T | TATATATA others(44): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 334 | 0.0030 | 51 | c.106 others(68): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
CCDC38_chr12_95862048_95947614 | 95907478 | T | TGGGGCGG others(44): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01081.hp2 HG01109.hp1 others(30): Show |
a0001a0006a0009 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0027a0001c0001t0001g0028others(29): Show | 33 | 350 | 0.0943 | 51 | c.305 others(68): Show |
CCDC38 | ENSG00000165972.13 | transcript | ENST00000344280.8 | protein_coding | 4/15 | chr12 | TogoVar | ||||||
CCDC38_chr12_95862048_95947614 | 95907478 | T | TGGGGCGG others(44): Show |
intron_variant | MODIFIER | NA18612.hp1 NA19055.hp1 NA19088.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0287a0002c0003t0002g0288a0002c0003t0002g0320 | 3 | 350 | 0.0086 | 51 | c.305 others(68): Show |
CCDC38 | ENSG00000165972.13 | transcript | ENST00000344280.8 | protein_coding | 4/15 | chr12 | TogoVar | ||||||
CCDC38_chr12_95862048_95947614 | 95908636 | A | AGAGGGAG others(44): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02257.hp2 HG03130.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0106a0001c0001t0001g0151a0001c0001t0002g0305others(5): Show | 8 | 350 | 0.0229 | 51 | c.305 others(68): Show |
CCDC38 | ENSG00000165972.13 | transcript | ENST00000344280.8 | protein_coding | 4/15 | chr12 | TogoVar | ||||||
CCDC60_chr12_119329729_119546040 | 119398083 | C | CGGGGGGA others(44): Show |
intron_variant | MODIFIER | HG02155.hp2 HG03710.hp2 HG04204.hp2 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0002a0006c0006t0003 | a0001c0001t0001g0188a0001c0001t0002g0113a0006c0006t0003g0173 | 3 | 256 | 0.0117 | 51 | c.91- others(68): Show |
CCDC60 | ENSG00000183273.7 | transcript | ENST00000327554.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC60_chr12_119329729_119546040 | 119398083 | C | CGGGGGGA others(44): Show |
intron_variant | MODIFIER | NA18979.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101a0001c0001t0002g0108 | 2 | 256 | 0.0078 | 51 | c.91- others(68): Show |
CCDC60 | ENSG00000183273.7 | transcript | ENST00000327554.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC60_chr12_119329729_119546040 | 119398083 | C | CGGGGGGA others(44): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 256 | 0.0039 | 51 | c.91- others(68): Show |
CCDC60 | ENSG00000183273.7 | transcript | ENST00000327554.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC60_chr12_119329729_119546040 | 119398083 | C | CGGGGGGA others(44): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0126 | 1 | 256 | 0.0039 | 51 | c.91- others(68): Show |
CCDC60 | ENSG00000183273.7 | transcript | ENST00000327554.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC60_chr12_119329729_119546040 | 119398083 | C | CGGGGGGA others(44): Show |
intron_variant | MODIFIER | HG01978.hp2 NA19009.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0106a0002c0002t0002g0134 | 2 | 256 | 0.0078 | 51 | c.91- others(68): Show |
CCDC60 | ENSG00000183273.7 | transcript | ENST00000327554.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CCDC60_chr12_119329729_119546040 | 119398094 | A | AGGGGGTG others(44): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0135 | 1 | 256 | 0.0039 | 51 | c.91- others(68): Show |
CCDC60 | ENSG00000183273.7 | transcript | ENST00000327554.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |