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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIRAS1_chr19_2709567_2726372 | 2713518 | C | CCCTCACT others(961): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 412 | 0.0024 | 968 | c.*36 others(979): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 1048 | chr19 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522695 | G | GCCCAGCC others(961): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 358 | 0.0028 | 968 | c.236 others(987): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(961): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03139.hp1 |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0304 a0004c0004t0004g0306 |
2 | 358 | 0.0056 | 968 | c.236 others(987): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(961): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02976.hp1 |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0213 a0004c0004t0004g0214 a0004c0004t0004g0217 |
3 | 358 | 0.0084 | 968 | c.236 others(987): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(961): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0341 | 1 | 358 | 0.0028 | 968 | c.236 others(987): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(961): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0084 | 1 | 358 | 0.0028 | 968 | c.236 others(987): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(961): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01516.hp1 |
a0009a0012 | a0009c0012a0012c0020 | a0009c0012t0003a0012c0020t0003 | a0009c0012t0003g0232 a0012c0020t0003g0079 |
2 | 358 | 0.0056 | 968 | c.236 others(987): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(961): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 358 | 0.0028 | 968 | c.236 others(987): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(961): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 | 1 | 358 | 0.0028 | 968 | c.236 others(987): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(961): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0283 | 1 | 298 | 0.0034 | 968 | c.126 others(985): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947705 | G | GTGGTGAT others(961): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0041 | a0001c0041t0002 | a0001c0041t0002g0103 | 1 | 136 | 0.0074 | 968 | c.47- others(985): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619124 | C | CCCCCCCG others(961): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 250 | 0.0040 | 968 | c.-10 others(987): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 659603 | G | GCATCCTG others(961): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 378 | 0.0027 | 968 | c.*49 others(979): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4596 | chr8 | TogoVar | |||||||
GCAT_chr22_37802934_37821897 | 37817170 | C | CGAAATTA others(961): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0025 | 2 | 390 | 0.0051 | 968 | c.*45 others(977): Show |
GCAT | ENSG00000100116.17 | transcript | ENST00000248924.11 | protein_coding | 274 | chr22 | TogoVar | |||||||
GRAMD4_chr22_46615386_46684785 | 46635113 | A | AGCCACTC others(961): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0184 | 1 | 328 | 0.0031 | 968 | c.163 others(985): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323471 | G | GAATATAT others(961): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0019 | 1 | 323 | 0.0031 | 968 | c.-15 others(979): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1498 | chr21 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79886166 | G | GGGAACAT others(961): Show |
intron_variant | MODIFIER | HG01106.hp2 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0033 a0002c0002t0002g0311 |
2 | 312 | 0.0064 | 968 | c.625 others(987): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIF1A_chr2_240708767_240825219 | 240786702 | G | GCATCAGG others(961): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0116 | 1 | 330 | 0.0030 | 968 | c.430 others(983): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240786744 | G | GCCCCTGA others(961): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0027 | 1 | 330 | 0.0030 | 968 | c.430 others(983): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997164 | G | GCGGGGGA others(961): Show |
upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 375 | 0.0027 | 968 | c.-23 others(979): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 506 | chr6 | TogoVar | |||||||
MRTFA_chr22_40405289_40641719 | 40537541 | T | TGGGGGGG others(961): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0147 | 1 | 256 | 0.0039 | 968 | c.241 others(987): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149872 | C | CGCCGCCT others(961): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 294 | 0.0034 | 968 | c.901 others(983): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150717 | C | CACCACAC others(961): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0205 | 1 | 294 | 0.0034 | 968 | c.902 others(983): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TCCCCTCC others(961): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0040 | 1 | 326 | 0.0031 | 968 | c.433 others(985): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950726 | T | TGCACATA others(961): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0018 | a0001c0018t0004 | a0001c0018t0004g0064 | 1 | 350 | 0.0029 | 968 | c.-26 others(979): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2513 | chr16 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(961): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0086 | 1 | 178 | 0.0056 | 968 | c.773 others(983): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(961): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0231 | 1 | 308 | 0.0033 | 968 | c.371 others(985): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(961): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0272 | 1 | 308 | 0.0033 | 968 | c.371 others(985): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(961): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0016 | a0016c0014 | a0016c0014t0001 | a0016c0014t0001g0259 | 1 | 308 | 0.0033 | 968 | c.371 others(985): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099856 | G | GCCCCCAC others(961): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0061 | 1 | 67 | 0.0149 | 968 | c.56- others(985): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251089 | T | TCACCACC others(961): Show |
downstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 375 | 0.0027 | 968 | c.*44 others(979): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3074 | chr10 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 934179 | G | GGGGGCGG others(961): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0009 | a0009c0014 | a0009c0014t0004 | a0009c0014t0004g0258 | 1 | 434 | 0.0023 | 968 | c.843 others(985): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(961): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 420 | 0.0024 | 968 | c.107 others(985): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(961): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 420 | 0.0024 | 968 | c.107 others(985): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(961): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 420 | 0.0024 | 968 | c.107 others(985): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(961): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 420 | 0.0024 | 968 | c.107 others(985): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325270 | G | GGGGGGCA others(961): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 150 | 0.0067 | 968 | c.531 others(985): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(961): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0055 | 1 | 268 | 0.0037 | 968 | c.*73 others(979): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 47170899 | C | CGGAGAGA others(961): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01515.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0004a0003c0005t0001 | a0001c0001t0001g0071 a0001c0001t0004g0092 a0003c0005t0001g0066 |
3 | 112 | 0.0268 | 968 | c.142 others(987): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TMEM114_chr16_8564500_8595511 | 8564901 | A | ATGAGTGA others(961): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 416 | 0.0024 | 968 | c.*48 others(979): Show |
TMEM114 | ENSG00000232258.7 | transcript | ENST00000620492.5 | protein_coding | 4598 | chr16 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(962): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03704.hp1 |
a0013a0061 | a0013c0023a0061c0052 | a0013c0023t0001a0061c0052t0001 | a0013c0023t0001g0219 a0061c0052t0001g0214 |
2 | 360 | 0.0056 | 969 | c.170 others(990): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20669000 | A | AGCCGCCC others(962): Show |
intron_variant | MODIFIER | HG03710.hp2 NA18940.hp1 NA18974.hp1 others(3): Show |
a0001a0005a0030 | a0001c0001a0001c0005a0005c0006others(2): Show | a0001c0001t0001a0001c0005t0001a0005c0006t0001others(2): Show | a0001c0001t0001g0254 a0001c0001t0001g0277 a0001c0005t0001g0275 others(3): Show |
6 | 360 | 0.0167 | 969 | c.170 others(990): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20669000 | A | AGCCGCCC others(962): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0261 | 1 | 360 | 0.0028 | 969 | c.170 others(990): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(962): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0004 | a0004c0013 | a0004c0013t0039 | a0004c0013t0039g0069 | 1 | 262 | 0.0038 | 969 | c.775 others(984): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(962): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0198 | 1 | 210 | 0.0048 | 969 | c.273 others(986): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(962): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02965.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0001a0001c0001t0002a0005c0013t0001 | a0001c0001t0001g0290 a0001c0001t0002g0251 a0001c0001t0002g0257 others(2): Show |
5 | 326 | 0.0153 | 969 | c.327 others(986): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2520198 | A | ACCAATGG others(962): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 104 | 0.0096 | 969 | c.139 others(988): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882453 | C | CGGGAGAA others(962): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0007 | 1 | 288 | 0.0035 | 969 | c.303 others(988): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CDC16_chr13_114229897_114277723 | 114231509 | C | CGGGTGGA others(962): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 380 | 0.0026 | 969 | c.-35 others(980): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3387 | chr13 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(962): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0017 | a0017c0042 | a0017c0042t0001 | a0017c0042t0001g0210 | 1 | 236 | 0.0042 | 969 | c.342 others(990): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |