| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EXD3_chr9_137301896_137428162 | 137406254 | GAAAGGAA others(747): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0029 | a0029c0036 | a0029c0036t0001 | a0029c0036t0001g0003 | 1 | 82 | 0.0122 | -754 | c.-47 others(19): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 1/21 | chr9 | TogoVar | ||||||
| ITGA8_chr10_15508954_15724922 | 15531876 | CGCAGGTT others(747): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0004 | a0004c0004 | a0004c0004t0009 | a0004c0004t0009g0043 | 1 | 220 | 0.0046 | -754 | c.288 others(18): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 27/29 | chr10 | TogoVar | ||||||
| MAPK8IP3_chr16_1701195_1775351 | 1737112 | ATCTGTGT others(747): Show |
A | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0236 | 1 | 330 | 0.0030 | -754 | c.603 others(17): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SPDYE3_chr7_100302702_100327196 | 100323916 | ACTTTCTC others(747): Show |
A | downstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 344 | 0.0029 | -754 | c.*30 others(11): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 1721 | chr7 | TogoVar | ||||||
| CCDC65_chr12_48899133_48926576 | 48908386 | TTACTAAG others(746): Show |
T | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 376 | 0.0027 | -753 | c.300 others(17): Show |
CCDC65 | ENSG00000139537.11 | transcript | ENST00000320516.5 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CTNNA2_chr2_79508051_80653780 | 80452161 | TTACATTT others(746): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02630.hp2 HG03041.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0011a0001c0014others(1): Show | a0001c0001t0001a0001c0011t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0031a0001c0001t0001g0033a0001c0001t0001g0067others(4): Show | 7 | 68 | 0.1029 | -753 | c.129 others(21): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 9/18 | chr2 | TogoVar | ||||||
| GDPGP1_chr15_90229209_90250811 | 90247103 | ATAGCTGA others(746): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0039a0001c0001t0075others(3): Show | a0001c0001t0018g0002a0001c0001t0039g0002a0001c0001t0039g0030others(4): Show | 10 | 438 | 0.0228 | -753 | c.*50 others(11): Show |
GDPGP1 | ENSG00000183208.13 | transcript | ENST00000329600.8 | protein_coding | 1293 | chr15 | TogoVar | ||||||
| MINPP1_chr10_87499893_87558461 | 87516040 | GCTGGTCT others(746): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(134): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0019others(108): Show | 137 | 412 | 0.3325 | -753 | c.933 others(17): Show |
MINPP1 | ENSG00000107789.16 | transcript | ENST00000371996.9 | protein_coding | 3/4 | chr10 | TogoVar | ||||||
| RUNDC3B_chr7_87623398_87837296 | 87626018 | ATATATAG others(746): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 NA18963.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0023a0001c0001t0027 | a0001c0001t0012g0152a0001c0001t0023g0039a0001c0001t0027g0154 | 3 | 202 | 0.0149 | -753 | c.-28 others(11): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2379 | chr7 | TogoVar | ||||||
| TRARG1_chr17_1274662_1305978 | 1276948 | CCAACATG others(746): Show |
C | upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 402 | 0.0025 | -753 | c.-30 others(11): Show |
TRARG1 | ENSG00000184811.4 | transcript | ENST00000333813.4 | protein_coding | 2713 | chr17 | TogoVar | ||||||
| TTLL13_chr15_90244556_90270477 | 90247103 | ATAGCTGA others(746): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG02630.hp2 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0043a0003c0003t0005g0201a0003c0003t0005g0202others(6): Show | 10 | 432 | 0.0232 | -753 | c.-27 others(11): Show |
TTLL13 | ENSG00000213471.10 | transcript | ENST00000641754.2 | protein_coding | 2452 | chr15 | TogoVar | ||||||
| A4GALT_chr22_42687121_42725870 | 42705440 | GAAAATAC others(745): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(113): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(15): Show | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(111): Show | 116 | 406 | 0.2857 | -752 | c.-18 others(20): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25757973 | ACTCATTC others(745): Show |
A | intron_variant | MODIFIER | HG02135.hp2 NA19010.hp1 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0001 | a0003c0003t0001g0078a0004c0004t0001g0083 | 2 | 300 | 0.0067 | -752 | c.654 others(19): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25757984 | TCACCTGC others(745): Show |
T | intron_variant | MODIFIER | HG02273.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0007 | 1 | 300 | 0.0033 | -752 | c.654 others(19): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132304431 | CCTCGCCC others(745): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0011a0001c0001t0001g0040a0001c0001t0001g0042others(27): Show | 30 | 183 | 0.1639 | -752 | c.239 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| GRID2_chr4_92298966_93779566 | 92439606 | TGGGGATG others(745): Show |
T | intron_variant | MODIFIER | HG01978.hp2 NA18942.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001 | a0001c0001t0006g0020a0001c0002t0001g0026 | 2 | 34 | 0.0588 | -752 | c.88+ others(19): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| TCF3_chr19_1604292_1657615 | 1628083 | ACGGGGGT others(745): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0005 | a0001c0005t0052 | a0001c0005t0052g0205 | 1 | 352 | 0.0028 | -752 | c.299 others(16): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| UBAP1_chr9_34174043_34257523 | 34181521 | CTCCCGCG others(745): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00621.hp2 others(48): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0002g0163a0001c0001t0002g0214a0001c0001t0002g0215others(48): Show | 51 | 342 | 0.1491 | -752 | c.-8+ others(15): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| AHRR_chr5_316714_443285 | 391438 | CGGGCGCA others(744): Show |
C | intron_variant | MODIFIER | HG02273.hp1 | a0004 | a0004c0003 | a0004c0003t0007 | a0004c0003t0007g0235 | 1 | 268 | 0.0037 | -751 | c.351 others(19): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 398025 | GCGTCACC others(744): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 216 | 0.0046 | -751 | c.106 others(17): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393135 | GGGGAAGG others(744): Show |
G | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0283 | 1 | 346 | 0.0029 | -751 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| C1orf159_chr1_1076823_1121089 | 1077299 | GCCGGGAG others(743): Show |
G | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 326 | 0.0031 | -750 | c.*48 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4523 | chr1 | TogoVar | ||||||
| CCDC200_chr17_43216420_43233623 | 43232873 | CCCCAGTG others(743): Show |
C | upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142 | 1 | 334 | 0.0030 | -750 | c.-50 others(11): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 4251 | chr17 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61783847 | AAGGCCCT others(743): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0089 | 1 | 106 | 0.0094 | -750 | c.576 others(19): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CROCC2_chr2_240901336_240998311 | 240907943 | CGGGTGAC others(743): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00738.hp2 others(52): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0003c0003others(17): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(20): Show | a0001c0001t0001g0058a0001c0001t0003g0064a0002c0002t0001g0057others(52): Show | 55 | 350 | 0.1571 | -750 | c.78+ others(15): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DOC2B_chr17_137789_186650 | 170765 | AGGCCAGG others(743): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216a0001c0001t0002g0247a0001c0001t0002g0248 | 3 | 339 | 0.0089 | -750 | c.453 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 171140 | AGCACCAG others(743): Show |
A | intron_variant | MODIFIER | HG02976.hp2 HG03486.hp2 |
a0001 | a0001c0002 | a0001c0002t0023a0001c0002t0024 | a0001c0002t0023g0272a0001c0002t0024g0273 | 2 | 339 | 0.0059 | -750 | c.453 others(16): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 519116 | AAACCACC others(743): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0226 | 1 | 272 | 0.0037 | -750 | c.238 others(21): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
| PRUNE2_chr9_76606376_76911114 | 76782489 | GACAACTA others(743): Show |
G | intron_variant | MODIFIER | NA19007.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0062 | 1 | 240 | 0.0042 | -750 | c.756 others(19): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | ||||||
| RNF223_chr1_1065967_1079306 | 1077299 | GCCGGGAG others(743): Show |
G | upstream_gene_variant | MODIFIER | HG02145.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0011a0001c0001t0007g0012 | 2 | 324 | 0.0062 | -750 | c.-40 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 2994 | chr1 | TogoVar | ||||||
| VGLL4_chr3_11551069_11648915 | 11604277 | CATTTGAT others(743): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0210 | 1 | 388 | 0.0026 | -750 | c.83- others(15): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
| AKR1C1_chr10_4958415_4988283 | 4959901 | ATTTATTT others(742): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp2 others(24): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0001t0013a0001c0001t0016others(7): Show | a0001c0001t0004g0010a0001c0001t0004g0018a0001c0001t0004g0096others(13): Show | 27 | 426 | 0.0634 | -749 | c.-35 others(11): Show |
AKR1C1 | ENSG00000187134.14 | transcript | ENST00000380872.9 | protein_coding | 3513 | chr10 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61783878 | AAATGTAA others(742): Show |
A | intron_variant | MODIFIER | HG02647.hp1 NA18906.hp1 NA18906.hp2 |
a0001a0002 | a0001c0012a0002c0002a0002c0016 | a0001c0012t0001a0002c0002t0005a0002c0016t0004 | a0001c0012t0001g0008a0002c0002t0005g0096a0002c0016t0004g0042 | 3 | 106 | 0.0283 | -749 | c.576 others(19): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RAD21L1_chr20_1221044_1260876 | 1258659 | TTCCCTCT others(742): Show |
T | downstream_gene_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0037 | 1 | 364 | 0.0028 | -749 | c.*42 others(11): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 2784 | chr20 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1094082 | ATGGTAGA others(742): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0094 | 1 | 190 | 0.0053 | -749 | c.211 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TRIM7_chr5_181188924_181210196 | 181208672 | TGGCGCGG others(742): Show |
T | upstream_gene_variant | MODIFIER | NA19011.hp1 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0010 | 1 | 394 | 0.0025 | -749 | c.-43 others(11): Show |
TRIM7 | ENSG00000146054.18 | transcript | ENST00000274773.12 | protein_coding | 3477 | chr5 | TogoVar | ||||||
| ZNF573_chr19_37733302_37784586 | 37783837 | GCCTCCCG others(742): Show |
G | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0311 | 1 | 350 | 0.0029 | -749 | c.-50 others(11): Show |
ZNF573 | ENSG00000189144.15 | transcript | ENST00000536220.7 | protein_coding | 4252 | chr19 | TogoVar | ||||||
| AFDN_chr6_167821911_167977023 | 167940707 | ATGTGTGG others(741): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0111 | 1 | 326 | 0.0031 | -748 | c.310 others(19): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 23/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| AKR1C1_chr10_4958415_4988283 | 4959900 | TATTTATT others(741): Show |
T | upstream_gene_variant | MODIFIER | HG01074.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0167 | a0001c0001t0004g0018a0001c0001t0167g0092 | 2 | 426 | 0.0047 | -748 | c.-35 others(11): Show |
AKR1C1 | ENSG00000187134.14 | transcript | ENST00000380872.9 | protein_coding | 3514 | chr10 | TogoVar | ||||||
| DIRAS1_chr19_2709567_2726372 | 2713556 | TCCCATCC others(741): Show |
T | downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 412 | 0.0024 | -748 | c.*29 others(11): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 1010 | chr19 | TogoVar | ||||||
| DPP6_chr7_154047398_154899285 | 154057183 | GTTTGAGG others(741): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02965.hp1 NA19043.hp2 |
a0001 | a0001c0003a0001c0018 | a0001c0003t0007a0001c0003t0008a0001c0018t0009 | a0001c0003t0007g0024a0001c0003t0008g0025a0001c0018t0009g0023 | 3 | 38 | 0.0790 | -748 | c.243 others(17): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(741): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202a0001c0001t0001g0226 | 2 | 350 | 0.0057 | -748 | c.*24 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186519 | GACACGGG others(741): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0335a0001c0001t0003g0336 | 2 | 350 | 0.0057 | -748 | c.*19 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2470 | chr16 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805599 | TCCCCCCT others(741): Show |
T | upstream_gene_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0138 | 1 | 319 | 0.0031 | -748 | c.-36 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3593 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805609 | GCCCAGGA others(741): Show |
G | upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 319 | 0.0031 | -748 | c.-36 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3583 | chr2 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132148992 | CGCCGCCT others(741): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0010 | a0010c0040 | a0010c0040t0001 | a0010c0040t0001g0196 | 1 | 294 | 0.0034 | -748 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NPIPB15_chr16_74371306_74397115 | 74396367 | CACTTGAA others(741): Show |
C | downstream_gene_variant | MODIFIER | HG01255.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0057 | 1 | 261 | 0.0038 | -748 | c.*42 others(11): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 4253 | chr16 | TogoVar | ||||||
| PPP1R8_chr1_27825782_27856676 | 27853337 | GTGAGGGG others(741): Show |
G | downstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 340 | 0.0029 | -748 | c.*28 others(11): Show |
PPP1R8 | ENSG00000117751.18 | transcript | ENST00000311772.10 | protein_coding | 1662 | chr1 | TogoVar | ||||||
| RGS12_chr4_3288021_3444913 | 3444165 | AGCTGGGC others(741): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0229 | 1 | 312 | 0.0032 | -748 | c.*44 others(11): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 4253 | chr4 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1094194 | AAAGGCCT others(741): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0104 | 1 | 190 | 0.0053 | -748 | c.211 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |