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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3109): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0059 | 1 | 174 | 0.0057 | 3116 | c.294 others(3133): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3109): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0096 | 1 | 174 | 0.0057 | 3116 | c.294 others(3133): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3109): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0069 | 1 | 222 | 0.0045 | 3116 | c.101 others(3135): 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(3109): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 4 | 0.2500 | 3116 | c.115 others(3135): 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(3109): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 4 | 0.2500 | 3116 | c.115 others(3135): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3109): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0069 | a0069c0073 | a0069c0073t0001 | a0069c0073t0001g0014 | 1 | 8 | 0.1250 | 3116 | c.723 others(3133): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LRCH1_chr13_46548170_46749898 | 46584009 | T | TAGAATAA others(3109): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 248 | 0.0040 | 3116 | c.307 others(3135): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(3110): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 194 | 0.0052 | 3117 | c.573 others(3134): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3110): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 174 | 0.0057 | 3117 | c.294 others(3134): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3110): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0099 | 1 | 174 | 0.0057 | 3117 | c.294 others(3134): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585576 | C | CACAGCCC others(3110): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0068 | 1 | 197 | 0.0051 | 3117 | c.294 others(3134): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585576 | C | CACAGCCC others(3110): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0066 | 1 | 197 | 0.0051 | 3117 | c.294 others(3134): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3110): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0023 | 1 | 222 | 0.0045 | 3117 | c.101 others(3136): 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(3110): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0012 | a0012c0022 | a0012c0022t0002 | a0012c0022t0002g0093 | 1 | 4 | 0.2500 | 3117 | c.115 others(3136): 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(3110): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0018 | a0001c0018t0011 | a0001c0018t0011g0099 | 1 | 4 | 0.2500 | 3117 | c.115 others(3136): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LRCH1_chr13_46548170_46749898 | 46584008 | A | ATAGAATA others(3110): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 266 | 0.0038 | 3117 | c.307 others(3136): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3110): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0009 | 1 | 5 | 0.2000 | 3117 | c.-12 others(3136): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3111): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0347 | 1 | 322 | 0.0031 | 3118 | c.839 others(3135): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3111): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0339 | 1 | 322 | 0.0031 | 3118 | c.839 others(3135): 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(3111): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0270 | 1 | 194 | 0.0052 | 3118 | c.573 others(3135): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(3111): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0272 | 1 | 194 | 0.0052 | 3118 | c.573 others(3135): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACTC others(3111): Show |
downstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 3 | 0.3333 | 3118 | c.*14 others(3129): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3111): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 4 | 0.2500 | 3118 | c.115 others(3137): 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(3111): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01106.hp1 HG01258.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0088 a0001c0001t0002g0089 a0001c0001t0002g0102 others(4): Show |
7 | 10 | 0.7000 | 3118 | c.115 others(3137): 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(3111): Show |
intron_variant | MODIFIER | NA18954.hp2 NA19063.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0214 a0001c0002t0001g0186 |
2 | 249 | 0.0080 | 3118 | c.307 others(3137): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45797737 | G | GTGGATCC others(3111): Show |
intron_variant | MODIFIER | NA18955.hp1 NA18963.hp1 NA19091.hp2 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0140 a0001c0001t0001g0146 a0004c0007t0001g0141 |
3 | 4 | 0.7500 | 3118 | c.-12 others(3139): 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(3111): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 2 | 0.5000 | 3118 | c.-12 others(3139): 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(3111): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00642.hp2 others(34): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0128 others(34): Show |
37 | 38 | 0.9737 | 3118 | c.-12 others(3139): 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(3111): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0169 |
2 | 3 | 0.6667 | 3118 | c.-12 others(3139): 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(3111): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 2 | 0.5000 | 3118 | c.-12 others(3139): 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(3111): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0189 | 1 | 2 | 0.5000 | 3118 | c.-12 others(3139): 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(3111): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0262 | 1 | 2 | 0.5000 | 3118 | c.-12 others(3139): 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(3111): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 2 | 0.5000 | 3118 | c.-12 others(3139): 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(3111): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0098 | 1 | 2 | 0.5000 | 3118 | c.-12 others(3139): 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(3111): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03209.hp2 HG03225.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 others(3): Show |
6 | 7 | 0.8571 | 3118 | c.-12 others(3139): 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(3111): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 2 | 0.5000 | 3118 | c.-12 others(3139): 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(3111): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236 | 1 | 2 | 0.5000 | 3118 | c.-12 others(3139): 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(3111): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00673.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0002g0215 a0001c0001t0002g0221 a0001c0001t0002g0224 others(52): Show |
56 | 57 | 0.9825 | 3118 | c.-12 others(3139): 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(3111): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0231 | 1 | 2 | 0.5000 | 3118 | c.-12 others(3139): 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(3111): Show |
intron_variant | MODIFIER | HG01891.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 a0001c0001t0002g0220 |
2 | 3 | 0.6667 | 3118 | c.-12 others(3139): 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(3111): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0225 | 1 | 2 | 0.5000 | 3118 | c.-12 others(3139): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3111): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0085 | a0085c0122 | a0085c0122t0001 | a0085c0122t0001g0263 | 1 | 34 | 0.0294 | 3118 | c.299 others(3133): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3111): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0164 | 1 | 5 | 0.2000 | 3118 | c.-12 others(3137): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3111): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 5 | 0.2000 | 3118 | c.-12 others(3137): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(3112): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 2 | 195 | 0.0103 | 3119 | c.573 others(3136): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(3112): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 194 | 0.0052 | 3119 | c.573 others(3136): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3112): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 4 | 0.2500 | 3119 | c.115 others(3138): 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(3112): Show |
intron_variant | MODIFIER | HG03710.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 a0001c0001t0002g0107 |
2 | 5 | 0.4000 | 3119 | c.115 others(3138): 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(3112): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0047 | 1 | 8 | 0.1250 | 3119 | c.400 others(3138): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949686 | T | TTTTTTTT others(3112): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 316 | 0.0032 | 3119 | c.-91 others(3140): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar |