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(3078): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0102 | 1 | 174 | 0.0057 | 3085 | c.294 others(3102): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3078): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0100 | 1 | 174 | 0.0057 | 3085 | c.294 others(3102): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3078): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0103 | 1 | 174 | 0.0057 | 3085 | c.294 others(3102): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3078): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0110 | 1 | 174 | 0.0057 | 3085 | c.294 others(3102): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3078): Show |
intron_variant | MODIFIER | HG02165.hp2 NA18964.hp1 NA19012.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0005t0004 | a0001c0001t0001g0091 a0001c0001t0004g0108 a0001c0005t0004g0111 |
3 | 176 | 0.0170 | 3085 | c.294 others(3102): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3078): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0043 | 1 | 8 | 0.1250 | 3085 | c.400 others(3104): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602360 | T | TCTCCTGC others(3078): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0068 | a0002c0068t0004 | a0002c0068t0004g0300 | 1 | 212 | 0.0047 | 3085 | c.633 others(3102): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3078): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0138 | 1 | 233 | 0.0043 | 3085 | c.-91 others(3106): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
PPP4R1_chr18_9541794_9619559 | 9603210 | A | AATGTCAG others(3078): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 315 | 0.0032 | 3085 | c.53- others(3100): Show |
PPP4R1 | ENSG00000154845.16 | transcript | ENST00000400556.8 | protein_coding | 2/19 | chr18 | TogoVar | |||||||
ZNF461_chr19_36631618_36671837 | 36661642 | T | TAAGATGA others(3078): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0138 | 1 | 341 | 0.0029 | 3085 | c.9+3 others(3098): Show |
ZNF461 | ENSG00000197808.14 | transcript | ENST00000588268.6 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3079): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092 | 1 | 174 | 0.0057 | 3086 | c.294 others(3103): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(3079): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0008 | a0008c0015 | a0008c0015t0002 | a0008c0015t0002g0109 | 1 | 174 | 0.0057 | 3086 | c.294 others(3103): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585576 | C | CACAGCCC others(3079): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0067 | 1 | 197 | 0.0051 | 3086 | c.294 others(3103): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3079): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0044 | 1 | 8 | 0.1250 | 3086 | c.400 others(3105): 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(3079): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 248 | 0.0040 | 3086 | c.307 others(3105): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3079): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 62 | 0.0161 | 3086 | c.*24 others(3097): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3079): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 7 | 0.1429 | 3086 | c.*27 others(3097): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3079): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 7 | 0.1429 | 3086 | c.*27 others(3097): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3079): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 7 | 0.1429 | 3086 | c.*27 others(3097): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3079): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 7 | 0.1429 | 3086 | c.*27 others(3097): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3079): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0201 a0001c0001t0001g0242 |
3 | 9 | 0.3333 | 3086 | c.*27 others(3097): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(3079): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0014 | a0002c0014t0025 | a0002c0014t0025g0129 | 1 | 192 | 0.0052 | 3086 | c.89- others(3099): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1297494 | G | GTACAGTC others(3080): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 100 | 0.0100 | 3087 | c.810 others(3104): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3080): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0032 | a0002c0032t0001 | a0002c0032t0001g0256 | 1 | 4 | 0.2500 | 3087 | c.115 others(3106): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323565 | T | TGTGTGTG others(3080): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0025 | 1 | 145 | 0.0069 | 3087 | c.-47 others(3098): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4770 | chrX | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3080): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 62 | 0.0161 | 3087 | c.*24 others(3098): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3080): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0071 | 1 | 19 | 0.0526 | 3087 | c.389 others(3106): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3080): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18944.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0081 a0004c0004t0001g0202 |
2 | 304 | 0.0066 | 3087 | c.192 others(3102): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333251 | C | CGGATGAG others(3081): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0196 | 1 | 302 | 0.0033 | 3088 | c.891 others(3105): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
DOCK2_chr5_169632275_170088382 | 169949681 | T | TGATCTTT others(3081): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 171 | 0.0058 | 3088 | c.280 others(3109): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716360 | T | TGTGGTGG others(3081): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 127 | 0.0079 | 3088 | c.86- others(3101): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3081): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0049 | a0001c0002t0049g0087 | 1 | 8 | 0.1250 | 3088 | c.400 others(3107): 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(3081): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0170 | 1 | 8 | 0.1250 | 3088 | c.400 others(3107): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586251 | G | GGCCGGGG others(3081): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0294 | 1 | 222 | 0.0045 | 3088 | c.157 others(3103): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949681 | T | TGATCTTT others(3081): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0189 | 1 | 297 | 0.0034 | 3088 | c.-91 others(3109): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
LRCH1_chr13_46548170_46749898 | 46584008 | A | ATAGAATA others(3081): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 266 | 0.0038 | 3088 | c.307 others(3107): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3081): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 7 | 0.1429 | 3088 | c.*27 others(3099): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3081): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0198 | 1 | 303 | 0.0033 | 3088 | c.192 others(3103): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3081): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 207 | 0.0048 | 3088 | c.*41 others(3103): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(3081): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 35 | 0.0286 | 3088 | c.-28 others(3107): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
CFAP206_chr6_87402972_87469465 | 87407647 | T | TTTTACTT others(3082): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0246 | 1 | 367 | 0.0027 | 3089 | c.-44 others(3098): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 324 | chr6 | TogoVar | |||||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3082): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0200 | 1 | 303 | 0.0033 | 3089 | c.192 others(3104): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3082): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0201 | 1 | 303 | 0.0033 | 3089 | c.192 others(3104): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3083): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 4 | 0.2500 | 3090 | c.115 others(3109): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3083): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0015 | a0015c0039 | a0015c0039t0028 | a0015c0039t0028g0096 | 1 | 217 | 0.0046 | 3090 | c.258 others(3107): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3083): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0005 | a0001c0005t0015 | a0001c0005t0015g0052 | 1 | 19 | 0.0526 | 3090 | c.389 others(3109): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3083): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0273 | 1 | 207 | 0.0048 | 3090 | c.*41 others(3105): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3084): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 50 | 0.0200 | 3091 | c.147 others(3108): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP206_chr6_87402972_87469465 | 87407647 | T | TTTTACTT others(3084): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02922.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0239 a0001c0007t0001g0240 |
2 | 368 | 0.0054 | 3091 | c.-44 others(3100): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 324 | chr6 | TogoVar | |||||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(3084): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0059 | 1 | 129 | 0.0078 | 3091 | c.280 others(3112): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |