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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCBP3_chr21_45638725_45947450 | 45924480 | T | TGAGGAGA others(1181): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 292 | 0.0034 | 1188 | c.718 others(1205): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1181): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0261 | 1 | 304 | 0.0033 | 1188 | c.347 others(1203): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(1181): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG03490.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 4 | 375 | 0.0107 | 1188 | c.*44 others(1199): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744487 | C | CCCTGGTT others(1181): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0019 | a0001c0019t0003 | a0001c0019t0003g0135 | 1 | 196 | 0.0051 | 1188 | c.655 others(1205): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744883 | C | CCCTGGCT others(1181): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0008 | a0001c0008t0054 | a0001c0008t0054g0169 | 1 | 196 | 0.0051 | 1188 | c.655 others(1205): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1181): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0039 | 1 | 322 | 0.0031 | 1188 | c.-93 others(1205): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(1181): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0001 | 2 | 280 | 0.0071 | 1188 | c.89- others(1201): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431777 | A | ATAGGGTG others(1181): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0070 | 1 | 376 | 0.0027 | 1188 | c.101 others(1207): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432003 | T | TAGGGTGG others(1181): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0136 | 1 | 376 | 0.0027 | 1188 | c.101 others(1205): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432147 | C | CAGGGTGG others(1181): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0352 | 1 | 376 | 0.0027 | 1188 | c.101 others(1205): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SUFU_chr10_102498972_102638535 | 102637512 | A | ATATTATA others(1181): Show |
downstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 268 | 0.0037 | 1188 | c.*73 others(1199): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3978 | chr10 | TogoVar | ||||||
TAB1_chr22_39394780_39436882 | 39423757 | G | GTAGCGTA others(1181): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0004 | a0004c0007 | a0004c0007t0008 | a0004c0007t0008g0280 | 1 | 312 | 0.0032 | 1188 | c.921 others(1205): Show |
TAB1 | ENSG00000100324.14 | transcript | ENST00000216160.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ADPRHL1_chr13_113394611_113458488 | 113419033 | C | CCCTCCCC others(1182): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0035 | a0035c0046 | a0035c0046t0085 | a0035c0046t0085g0169 | 1 | 262 | 0.0038 | 1189 | c.106 others(1208): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585351 | T | TGAGGGAG others(1182): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 354 | 0.0028 | 1189 | c.-22 others(1206): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(1182): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0176 | 1 | 354 | 0.0028 | 1189 | c.-22 others(1206): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2539330 | A | AGGAGGGT others(1182): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0025 | a0001c0025t0007 | a0001c0025t0007g0012 | 1 | 104 | 0.0096 | 1189 | c.139 others(1210): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1182): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 258 | 0.0039 | 1189 | c.403 others(1204): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1182): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 258 | 0.0039 | 1189 | c.403 others(1204): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1182): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 258 | 0.0039 | 1189 | c.403 others(1204): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1182): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 258 | 0.0039 | 1189 | c.403 others(1204): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1182): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 258 | 0.0039 | 1189 | c.403 others(1204): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1182): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 2 | 258 | 0.0078 | 1189 | c.403 others(1204): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1182): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 | 1 | 258 | 0.0039 | 1189 | c.403 others(1204): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939886 | G | GAAAAAGA others(1182): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 258 | 0.0039 | 1189 | c.403 others(1204): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333412 | C | CACACCGG others(1182): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 370 | 0.0027 | 1189 | c.891 others(1204): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333412 | C | CACACCGG others(1182): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 370 | 0.0027 | 1189 | c.891 others(1204): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(1182): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0101 | 1 | 344 | 0.0029 | 1189 | c.85- others(1206): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(1182): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0015 | a0002c0015t0013 | a0002c0015t0013g0312 | 1 | 344 | 0.0029 | 1189 | c.85- others(1206): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148869593 | C | CGCTCAAA others(1182): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 380 | 0.0026 | 1189 | c.-8+ others(1206): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591765 | G | GGTGTTGA others(1182): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 1 | 397 | 0.0025 | 1189 | c.*50 others(1200): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4036 | chr5 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79885784 | A | AGGACAGG others(1182): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02027.hp2 HG02273.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0031a0002c0002t0002g0035a0002c0002t0002g0054others(8): Show | 11 | 312 | 0.0353 | 1189 | c.625 others(1208): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79885784 | A | AGGACAGG others(1182): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030 | 1 | 312 | 0.0032 | 1189 | c.625 others(1208): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79885784 | A | AGGACAGG others(1182): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0261 | 1 | 312 | 0.0032 | 1189 | c.625 others(1208): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MRPL28_chr16_361969_375538 | 370302 | A | ACTCTCAC others(1182): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 394 | 0.0025 | 1189 | c.-7- others(1200): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150439 | C | CGCCGCCT others(1182): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 294 | 0.0034 | 1189 | c.902 others(1204): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PGAP6_chr16_365788_386978 | 370302 | A | ACTCTCAC others(1182): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0161 | 1 | 376 | 0.0027 | 1189 | c.*16 others(1200): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 485 | chr16 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398660 | G | GCGTCACC others(1182): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0007 | a0007c0034 | a0007c0034t0001 | a0007c0034t0001g0163 | 1 | 216 | 0.0046 | 1189 | c.106 others(1206): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 494827 | T | TGGGAGGT others(1182): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 295 | 0.0034 | 1189 | c.126 others(1208): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 494827 | T | TGGGAGGT others(1182): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03453.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0002c0003t0002 | a0001c0001t0005g0105a0002c0003t0002g0293 | 2 | 295 | 0.0068 | 1189 | c.126 others(1208): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RIMS2_chr8_103495610_104259430 | 103706759 | T | TCTTGGAG others(1182): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0003 | a0003c0009 | a0003c0009t0008 | a0003c0009t0008g0145 | 1 | 172 | 0.0058 | 1189 | c.507 others(1206): Show |
RIMS2 | ENSG00000176406.25 | transcript | ENST00000696799.1 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(1182): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0132 | 1 | 334 | 0.0030 | 1189 | c.45- others(1204): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1182): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01993.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0002t0001 | a0001c0001t0003g0012a0001c0001t0003g0026a0001c0001t0003g0027others(3): Show | 6 | 322 | 0.0186 | 1189 | c.-93 others(1206): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(1182): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0016 | a0016c0036 | a0016c0036t0002 | a0016c0036t0002g0136 | 1 | 280 | 0.0036 | 1189 | c.89- others(1202): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
SLC1A2_chr11_35246205_35424558 | 35248627 | G | GGTGCATG others(1182): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0051 | a0001c0001t0037g0233a0001c0001t0051g0045 | 2 | 306 | 0.0065 | 1189 | c.*12 others(1202): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2577 | chr11 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1182): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 360 | 0.0028 | 1189 | c.*24 others(1200): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675038 | T | TCCTGCCT others(1182): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 326 | 0.0031 | 1189 | c.483 others(1204): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AHRR_chr5_316714_443285 | 415614 | C | CGGGAGGC others(1183): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0093 | 1 | 268 | 0.0037 | 1190 | c.441 others(1207): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1183): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0100 | 1 | 242 | 0.0041 | 1190 | c.927 others(1207): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539583 | C | CTTCATAA others(1183): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02965.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0008t0033 | a0001c0001t0003g0063a0001c0008t0033g0051 | 2 | 104 | 0.0192 | 1190 | c.139 others(1211): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CALN1_chr7_71774491_72417338 | 72209189 | T | TTTCCTTC others(1183): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0114 | 1 | 142 | 0.0070 | 1190 | c.244 others(1209): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar |