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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3105): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0073 | 1 | 222 | 0.0045 | 3112 | c.101 others(3131): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323700 | G | GTGTGTGT others(3105): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0095 | 1 | 152 | 0.0066 | 3112 | c.-49 others(3123): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4905 | chrX | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(3105): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0191 | 1 | 143 | 0.0070 | 3112 | c.58- others(3129): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3106): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0323 | 1 | 322 | 0.0031 | 3113 | c.839 others(3130): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(3106): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 194 | 0.0052 | 3113 | c.573 others(3130): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(3106): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 194 | 0.0052 | 3113 | c.573 others(3130): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3106): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 313 | 0.0064 | 3113 | c.*85 others(3124): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3106): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0055 | 1 | 222 | 0.0045 | 3113 | c.101 others(3132): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3106): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0021 | 1 | 222 | 0.0045 | 3113 | c.101 others(3132): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3106): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0015 | 1 | 222 | 0.0045 | 3113 | c.101 others(3132): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3106): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 4 | 0.2500 | 3113 | c.115 others(3132): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3106): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 4 | 0.2500 | 3113 | c.115 others(3132): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3106): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0026 | a0001c0026t0039 | a0001c0026t0039g0216 | 1 | 8 | 0.1250 | 3113 | c.400 others(3132): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LRCH1_chr13_46548170_46749898 | 46584009 | T | TAGAATAA others(3106): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 248 | 0.0040 | 3113 | c.307 others(3132): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3106): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0261 | 1 | 303 | 0.0033 | 3113 | c.192 others(3128): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(3106): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0069 | 1 | 35 | 0.0286 | 3113 | c.-28 others(3132): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3107): Show |
downstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 312 | 0.0032 | 3114 | c.*85 others(3125): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | |||||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(3107): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0051 | 1 | 129 | 0.0078 | 3114 | c.280 others(3135): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169949681 | T | TGATCTTT others(3107): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0073 | a0001c0073t0003 | a0001c0073t0003g0094 | 1 | 171 | 0.0058 | 3114 | c.280 others(3135): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3107): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 4 | 0.2500 | 3114 | c.115 others(3133): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3107): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0008 | a0002c0008t0022 | a0002c0008t0022g0101 | 1 | 8 | 0.1250 | 3114 | c.400 others(3133): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3107): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0180 | 1 | 8 | 0.1250 | 3114 | c.400 others(3133): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399457 | C | CCACCACC others(3107): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 258 | 0.0039 | 3114 | c.-25 others(3131): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TACGGAAT others(3107): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0076 | 1 | 62 | 0.0161 | 3114 | c.-21 others(3125): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3107): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0088 | 1 | 233 | 0.0043 | 3114 | c.-91 others(3135): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877493 | T | TAGGGAGG others(3107): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0015 | a0001c0015t0023 | a0001c0015t0023g0061 | 1 | 226 | 0.0044 | 3114 | c.224 others(3133): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45797737 | G | GTGGATCC others(3107): Show |
intron_variant | MODIFIER | HG02083.hp1 NA18985.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 |
3 | 4 | 0.7500 | 3114 | c.-12 others(3135): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45797737 | G | GTGGATCC others(3107): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02615.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0023others(1): Show | a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 others(8): Show |
11 | 12 | 0.9167 | 3114 | c.-12 others(3135): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45797737 | G | GTGGATCC others(3107): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 2 | 0.5000 | 3114 | c.-12 others(3135): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45797737 | G | GTGGATCC others(3107): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00544.hp2 others(94): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0039 others(94): Show |
97 | 98 | 0.9898 | 3114 | c.-12 others(3135): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45797737 | G | GTGGATCC others(3107): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 2 | 0.5000 | 3114 | c.-12 others(3135): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45797737 | G | GTGGATCC others(3107): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 2 | 0.5000 | 3114 | c.-12 others(3135): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45797737 | G | GTGGATCC others(3107): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0009 | a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 others(3): Show |
6 | 7 | 0.8571 | 3114 | c.-12 others(3135): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(3107): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0271 | 1 | 228 | 0.0044 | 3114 | c.101 others(3131): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3107): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02300.hp2 NA20300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0057 a0001c0001t0003g0072 a0001c0002t0002g0009 |
3 | 25 | 0.1200 | 3114 | c.284 others(3133): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913479 | G | GGTGTGTG others(3107): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 2 | 413 | 0.0048 | 3114 | c.*27 others(3125): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 1794 | chr9 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(3108): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0286 | 1 | 194 | 0.0052 | 3115 | c.573 others(3132): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3108): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 312 | 0.0032 | 3115 | c.*85 others(3126): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | |||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3108): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0022 | 1 | 312 | 0.0032 | 3115 | c.*85 others(3126): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | |||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3108): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 4 | 0.2500 | 3115 | c.115 others(3134): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3108): Show |
intron_variant | MODIFIER | NA18967.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0092 |
2 | 5 | 0.4000 | 3115 | c.115 others(3134): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3108): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 4 | 0.2500 | 3115 | c.115 others(3134): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LRCH1_chr13_46548170_46749898 | 46584009 | T | TAGAATAA others(3108): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 248 | 0.0040 | 3115 | c.307 others(3134): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGGAG others(3108): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 6 | 0.1667 | 3115 | c.209 others(3130): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3108): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 5 | 0.2000 | 3115 | c.-12 others(3134): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3108): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0214 | 1 | 303 | 0.0033 | 3115 | c.192 others(3130): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917102 | G | GTCGGGTG others(3108): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 | 1 | 269 | 0.0037 | 3115 | c.218 others(3130): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3109): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0329 | 1 | 322 | 0.0031 | 3116 | c.839 others(3133): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(3109): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0284 | 1 | 194 | 0.0052 | 3116 | c.573 others(3133): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3109): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0075 | 1 | 174 | 0.0057 | 3116 | c.294 others(3133): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar |