| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MYRIP_chr3_39804609_40265321 | 40084296 | T | TATAATAC others(813): Show |
intron_variant | MODIFIER | HG02486.hp2 NA21309.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0106a0001c0004t0003g0165 | 2 | 170 | 0.0118 | 820 | c.332 others(839): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| NEDD4L_chr18_58039226_58406539 | 58209319 | C | CCTCCTCG others(813): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0102 | 1 | 118 | 0.0085 | 820 | c.123 others(839): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NOTCH1_chr9_136489433_136551048 | 136535645 | T | TCCCAGGG others(813): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0248 | 1 | 324 | 0.0031 | 820 | c.140 others(837): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| OPRK1_chr8_53220724_53256637 | 53253023 | C | CTTCATAA others(813): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00673.hp2 others(48): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(6): Show | a0001c0001t0001g0099a0001c0001t0001g0173a0001c0001t0004g0007others(31): Show | 51 | 372 | 0.1371 | 820 | c.-16 others(831): Show |
OPRK1 | ENSG00000082556.14 | transcript | ENST00000265572.8 | protein_coding | 1387 | chr8 | TogoVar | ||||||
| OPRK1_chr8_53220724_53256637 | 53253023 | C | CTTCATAA others(813): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0008a0001c0001t0001g0030a0001c0001t0001g0031others(15): Show | 25 | 372 | 0.0672 | 820 | c.-16 others(831): Show |
OPRK1 | ENSG00000082556.14 | transcript | ENST00000265572.8 | protein_coding | 1387 | chr8 | TogoVar | ||||||
| OPRK1_chr8_53220724_53256637 | 53253023 | C | CTTCATAA others(813): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00621.hp1 others(100): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0077others(69): Show | 103 | 372 | 0.2769 | 820 | c.-16 others(831): Show |
OPRK1 | ENSG00000082556.14 | transcript | ENST00000265572.8 | protein_coding | 1387 | chr8 | TogoVar | ||||||
| PCBP3_chr21_45638725_45947450 | 45909792 | C | CCCCCCCC others(813): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0279 | 1 | 292 | 0.0034 | 820 | c.471 others(835): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCDH11X_chrX_91774375_92628230 | 92437620 | T | TGCTTTTG others(813): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0023 | 1 | 154 | 0.0065 | 820 | c.334 others(841): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(813): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0018 | 1 | 262 | 0.0038 | 820 | c.129 others(837): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
| PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(813): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0117 | 1 | 262 | 0.0038 | 820 | c.129 others(837): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
| PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(813): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 250 | 0.0040 | 820 | c.309 others(839): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(813): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 250 | 0.0040 | 820 | c.309 others(839): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(813): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 312 | 0.0032 | 820 | c.306 others(839): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PRPF6_chr20_63976132_64038100 | 64012433 | A | AGAGGAGG others(813): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 294 | 0.0034 | 820 | c.152 others(839): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 494803 | A | AGAGGTGG others(813): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0265 | 1 | 295 | 0.0034 | 820 | c.126 others(839): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBBP8_chr18_22928328_23031486 | 23022668 | T | TAAAATAA others(813): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0190 | 1 | 330 | 0.0030 | 820 | c.259 others(837): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| RNF170_chr8_42848301_42901605 | 42884900 | T | TCATGTTG others(813): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02615.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002a0001c0002t0002g0008a0001c0002t0002g0122others(6): Show | 13 | 208 | 0.0625 | 820 | c.137 others(837): Show |
RNF170 | ENSG00000120925.16 | transcript | ENST00000527424.6 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
| RNF170_chr8_42848301_42901605 | 42884900 | T | TCATGTTG others(813): Show |
intron_variant | MODIFIER | HG03209.hp2 NA20129.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132a0001c0001t0002g0133a0001c0001t0002g0134 | 3 | 208 | 0.0144 | 820 | c.137 others(837): Show |
RNF170 | ENSG00000120925.16 | transcript | ENST00000527424.6 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
| RNF170_chr8_42848301_42901605 | 42884900 | T | TCATGTTG others(813): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0028a0001c0001t0005g0136a0001c0001t0005g0137others(1): Show | 4 | 208 | 0.0192 | 820 | c.137 others(837): Show |
RNF170 | ENSG00000120925.16 | transcript | ENST00000527424.6 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
| RNF170_chr8_42848301_42901605 | 42884900 | T | TCATGTTG others(813): Show |
intron_variant | MODIFIER | HG02886.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0178a0001c0001t0003g0179 | 2 | 208 | 0.0096 | 820 | c.137 others(837): Show |
RNF170 | ENSG00000120925.16 | transcript | ENST00000527424.6 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
| RNF170_chr8_42848301_42901605 | 42884900 | T | TCATGTTG others(813): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 208 | 0.0048 | 820 | c.137 others(837): Show |
RNF170 | ENSG00000120925.16 | transcript | ENST00000527424.6 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
| RNF170_chr8_42848301_42901605 | 42884900 | T | TCATGTTG others(813): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0021 | 1 | 208 | 0.0048 | 820 | c.137 others(837): Show |
RNF170 | ENSG00000120925.16 | transcript | ENST00000527424.6 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
| RNF170_chr8_42848301_42901605 | 42884900 | T | TCATGTTG others(813): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(151): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(140): Show | 154 | 208 | 0.7404 | 820 | c.137 others(837): Show |
RNF170 | ENSG00000120925.16 | transcript | ENST00000527424.6 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
| RNF170_chr8_42848301_42901605 | 42884900 | T | TCATGTTG others(813): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 208 | 0.0048 | 820 | c.137 others(837): Show |
RNF170 | ENSG00000120925.16 | transcript | ENST00000527424.6 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
| RNF170_chr8_42848301_42901605 | 42884900 | T | TCATGTTG others(813): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 208 | 0.0048 | 820 | c.137 others(837): Show |
RNF170 | ENSG00000120925.16 | transcript | ENST00000527424.6 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
| RNF170_chr8_42848301_42901605 | 42884900 | T | TCATGTTG others(813): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0170 | 3 | 208 | 0.0144 | 820 | c.137 others(837): Show |
RNF170 | ENSG00000120925.16 | transcript | ENST00000527424.6 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
| RNF170_chr8_42848301_42901605 | 42884900 | T | TCATGTTG others(813): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 208 | 0.0048 | 820 | c.137 others(837): Show |
RNF170 | ENSG00000120925.16 | transcript | ENST00000527424.6 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80274587 | T | TGGGGGGT others(813): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01109.hp2 others(1): Show |
a0001a0002a0068 | a0001c0001a0002c0002a0068c0054 | a0001c0001t0002a0001c0001t0054a0002c0002t0014others(1): Show | a0001c0001t0002g0147a0001c0001t0054g0088a0002c0002t0014g0120others(1): Show | 4 | 292 | 0.0137 | 820 | c.261 others(837): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RUSC2_chr9_35485111_35566895 | 35495159 | T | TTTTATAT others(813): Show |
intron_variant | MODIFIER | HG02486.hp1 NA18998.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011 | a0001c0001t0001g0194a0001c0001t0006g0193a0001c0001t0011g0248 | 3 | 322 | 0.0093 | 820 | c.-93 others(837): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
| SCARA5_chr8_27864883_27997673 | 27918978 | A | AGGAGGAG others(813): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 314 | 0.0032 | 820 | c.916 others(837): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
| SCARB1_chr12_124771856_124868864 | 124839644 | T | TCCCAACA others(813): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0268 | 1 | 356 | 0.0028 | 820 | c.127 others(839): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
| SCARB1_chr12_124771856_124868864 | 124839644 | T | TCCCAACA others(813): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0161 | 1 | 356 | 0.0028 | 820 | c.127 others(839): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
| SLC6A11_chr3_10811228_10945714 | 10873417 | A | ATCCTATC others(813): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0017 | a0003c0017t0007 | a0003c0017t0007g0354 | 1 | 362 | 0.0028 | 820 | c.757 others(837): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168654719 | C | CTCCTGAG others(813): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0005 | 1 | 180 | 0.0056 | 820 | c.128 others(839): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 11/12 | chr6 | TogoVar | ||||||
| SPPL2B_chr19_2323684_2360095 | 2348048 | C | CTCATTCG others(813): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 414 | 0.0024 | 820 | c.135 others(839): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(813): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 322 | 0.0031 | 820 | c.597 others(837): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
| SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(813): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02647.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026a0001c0002t0001g0027a0001c0002t0001g0028others(2): Show | 5 | 270 | 0.0185 | 820 | c.-78 others(839): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| THEG_chr19_356747_381026 | 377527 | T | TACCCCCA others(813): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0004 | a0004c0007 | a0004c0007t0012 | a0004c0007t0012g0138 | 1 | 370 | 0.0027 | 820 | c.-15 others(831): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1502 | chr19 | TogoVar | ||||||
| THOP1_chr19_2780503_2820807 | 2818308 | T | TCAGAGCA others(813): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0036 | 2 | 370 | 0.0054 | 820 | c.*50 others(831): Show |
THOP1 | ENSG00000172009.15 | transcript | ENST00000307741.11 | protein_coding | 2502 | chr19 | TogoVar | ||||||
| TPPP_chr5_654862_698352 | 689512 | G | GGACACAG others(813): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 409 | 0.0024 | 820 | c.-5+ others(835): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
| TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(813): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0172 | 1 | 174 | 0.0058 | 820 | c.41- others(837): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TSNARE1_chr8_142207080_142408182 | 142242243 | T | TGCCGTAT others(813): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158 | 1 | 238 | 0.0042 | 820 | c.144 others(841): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
| TTLL8_chr22_50013575_50063298 | 50029267 | A | ATCCTGAA others(813): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0100 | 1 | 224 | 0.0045 | 820 | c.225 others(839): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
| WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(813): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0095 | 1 | 228 | 0.0044 | 820 | c.127 others(837): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(813): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 246 | 0.0041 | 820 | c.-10 others(837): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
| ZDHHC11B_chr5_705355_789729 | 781571 | G | GGACACAG others(813): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0040 | 1 | 271 | 0.0037 | 820 | c.-23 others(839): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
| ZNF554_chr19_2814868_2841735 | 2818308 | T | TCAGAGCA others(813): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0008t0010 | a0001c0001t0003g0168a0001c0008t0010g0167 | 2 | 410 | 0.0049 | 820 | c.-17 others(831): Show |
ZNF554 | ENSG00000172006.12 | transcript | ENST00000317243.10 | protein_coding | 1559 | chr19 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1592579 | A | AAAGCCAC others(814): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 106 | 0.0094 | 821 | c.100 others(842): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ANO3_chr11_26327130_26668289 | 26396991 | C | CAGACTTC others(814): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0003a0001c0012t0007 | a0001c0001t0003g0132a0001c0012t0007g0153 | 2 | 190 | 0.0105 | 821 | c.47- others(838): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ATP10A_chr15_25673712_25868327 | 25758645 | A | ACTCATTC others(814): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0268 | 1 | 300 | 0.0033 | 821 | c.654 others(840): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar |