| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(793): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 115 | 0.0087 | 800 | c.*29 others(811): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
| VCX2_chrX_8164944_8176267 | 8169616 | C | CCACCTCT others(793): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0004 | 1 | 110 | 0.0091 | 800 | c.*41 others(809): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 327 | chrX | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1548029 | C | CTTTTTTT others(794): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0066 | 1 | 106 | 0.0094 | 801 | c.101 others(822): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
| AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(794): Show |
downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 10 | 0.1000 | 801 | c.*10 others(814): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
| AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(794): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 10 | 0.1000 | 801 | c.*10 others(814): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
| AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(794): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 NA18963.hp2 NA18975.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0077 | a0001c0001t0012g0000 a0001c0001t0077g0000 |
4 | 13 | 0.3077 | 801 | c.*10 others(814): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
| AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(794): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02015.hp1 HG02040.hp1 others(19): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0002a0001c0001t0012a0001c0001t0018others(4): Show | a0001c0001t0002g0000 a0001c0001t0012g0000 a0001c0001t0018g0000 others(4): Show |
22 | 31 | 0.7097 | 801 | c.*10 others(814): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
| AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(794): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0000 | 1 | 10 | 0.1000 | 801 | c.*10 others(814): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
| ARFRP1_chr20_63693647_63712976 | 63693699 | A | ACCTCCAC others(794): Show |
downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0030 | 1 | 189 | 0.0053 | 801 | c.*67 others(812): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4947 | chr20 | TogoVar | |||||||
| ARHGAP19_chr10_97217179_97297637 | 97251782 | A | ATGGGAAG others(794): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 237 | 0.0042 | 801 | c.927 others(818): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
| ARHGEF10_chr8_1818926_1963641 | 1825050 | A | ACCCGCAC others(794): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0042 | a0001c0003t0042g0122 | 1 | 353 | 0.0028 | 801 | c.-48 others(816): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(794): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0048 | 1 | 72 | 0.0139 | 801 | c.273 others(818): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ASB5_chr4_176208673_176274222 | 176218955 | A | AATATATA others(794): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0189 | 1 | 262 | 0.0038 | 801 | c.671 others(818): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
| AVEN_chr15_33861227_34044204 | 33894705 | C | CAGGCTGA others(794): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01081.hp2 others(14): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0003a0004c0004t0001 | a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 others(14): Show |
17 | 23 | 0.7391 | 801 | c.446 others(820): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
| AVEN_chr15_33861227_34044204 | 33894705 | C | CAGGCTGA others(794): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02622.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0034 a0001c0001t0001g0116 a0001c0001t0005g0022 others(4): Show |
7 | 13 | 0.5385 | 801 | c.446 others(820): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
| AVEN_chr15_33861227_34044204 | 33894705 | C | CAGGCTGA others(794): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02622.hp2 others(12): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0004c0004t0001others(2): Show | a0001c0001t0001g0057 a0001c0001t0001g0078 a0001c0001t0001g0088 others(12): Show |
15 | 21 | 0.7143 | 801 | c.446 others(820): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
| BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(794): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 8 | 0.1250 | 801 | c.-70 others(810): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
| C2CD4C_chr19_400445_414147 | 404897 | G | GGGGGGAA others(794): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0127 | a0001c0001t0127g0101 | 1 | 286 | 0.0035 | 801 | c.*21 others(812): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 547 | chr19 | TogoVar | |||||||
| C2CD4C_chr19_400445_414147 | 410763 | G | GTCCTGGG others(794): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0172 | 1 | 237 | 0.0042 | 801 | c.-17 others(812): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1617 | chr19 | TogoVar | |||||||
| CAPN11_chr6_44153820_44189401 | 44181824 | C | CCACACTC others(794): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 265 | 0.0038 | 801 | c.193 others(818): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61823304 | G | GGTGATGA others(794): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0096 | 1 | 96 | 0.0104 | 801 | c.577 others(820): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(794): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0053 | 1 | 38 | 0.0263 | 801 | c.248 others(818): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(794): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0025 | 1 | 38 | 0.0263 | 801 | c.248 others(818): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(794): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01106.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0121 a0002c0003t0003g0122 a0002c0003t0003g0145 others(3): Show |
6 | 43 | 0.1395 | 801 | c.248 others(818): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| CFAP20DC_chr3_58737008_59055025 | 58786706 | T | TAAGATAT others(794): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 | 1 | 150 | 0.0067 | 801 | c.223 others(822): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
| CFAP46_chr10_132803392_132947570 | 132888439 | C | CCCGCCAC others(794): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0130 | 1 | 211 | 0.0047 | 801 | c.330 others(820): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
| DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(794): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0112 | 1 | 97 | 0.0103 | 801 | c.923 others(820): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
| DOCK1_chr10_126900428_127457516 | 126948184 | A | ATGGTGGT others(794): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0014 | 1 | 48 | 0.0208 | 801 | c.47- others(818): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 400827 | T | TCACCACC others(794): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0010 | a0010c0154 | a0010c0154t0001 | a0010c0154t0001g0067 | 1 | 166 | 0.0060 | 801 | c.323 others(820): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| EML1_chr14_99788413_99947060 | 99928098 | G | GAGGTGGT others(794): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0002 | 2 | 263 | 0.0076 | 801 | c.190 others(820): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | chr14 | TogoVar | |||||||
| EXD3_chr9_137301896_137428162 | 137355619 | A | ACGGAGGA others(794): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 71 | 0.0141 | 801 | c.757 others(816): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
| F2_chr11_46714213_46744506 | 46721218 | A | ATTTTTAG others(794): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00597.hp2 others(65): Show |
a0002a0003 | a0002c0002a0003c0010 | a0002c0002t0001a0003c0010t0001 | a0002c0002t0001g0002 a0002c0002t0001g0017 a0002c0002t0001g0018 others(42): Show |
68 | 343 | 0.1983 | 801 | c.316 others(816): Show |
F2 | ENSG00000180210.15 | transcript | ENST00000311907.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| F2_chr11_46714213_46744506 | 46721294 | G | GGCCTCAA others(794): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0189 | 1 | 348 | 0.0029 | 801 | c.316 others(816): Show |
F2 | ENSG00000180210.15 | transcript | ENST00000311907.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(794): Show |
upstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 270 | 0.0037 | 801 | c.-51 others(812): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | |||||||
| ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(794): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0176 | 1 | 124 | 0.0081 | 801 | c.*65 others(812): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
| LHFPL3_chr7_104323603_104913561 | 104824253 | A | ATTATATA others(794): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0016 | 1 | 67 | 0.0149 | 801 | c.683 others(820): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
| LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(794): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0002 | a0002c0003 | a0002c0003t0057 | a0002c0003t0057g0090 | 1 | 6 | 0.1667 | 801 | c.368 others(818): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
| LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCAC others(794): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 215 | 0.0047 | 801 | c.129 others(818): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| MAP3K15_chrX_19355059_19520508 | 19478121 | G | GGAGAGGG others(794): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0100 | 1 | 12 | 0.0833 | 801 | c.525 others(818): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
| MICAL3_chr22_17782649_18029561 | 17877086 | G | GTTAGGGA others(794): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0006 | a0006c0011 | a0006c0011t0017 | a0006c0011t0017g0159 | 1 | 267 | 0.0037 | 801 | c.224 others(820): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
| MICAL3_chr22_17782649_18029561 | 17877198 | G | GGGAGGTT others(794): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03540.hp1 |
a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0130 a0002c0005t0005g0131 |
2 | 224 | 0.0089 | 801 | c.224 others(820): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
| MPPED1_chr22_43407014_43512848 | 43432640 | A | AGGGAGGA others(794): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 64 | 0.0156 | 801 | c.225 others(818): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(794): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 6 | 0.1667 | 801 | c.-8+ others(814): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
| MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(794): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0128 | 1 | 6 | 0.1667 | 801 | c.-8+ others(814): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
| MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(794): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01515.hp2 NA20300.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 |
3 | 8 | 0.3750 | 801 | c.-8+ others(814): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
| NOS3_chr7_150986017_151019588 | 150995787 | A | ACCCACCC others(794): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 |
3 | 321 | 0.0093 | 801 | c.270 others(816): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| PAK2_chr3_196734857_196837647 | 196811213 | T | TTCCTTCC others(794): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0126 | 1 | 161 | 0.0062 | 801 | c.773 others(816): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(794): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 5 | 0.2000 | 801 | c.*15 others(812): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
| PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(794): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 6 | 0.3333 | 801 | c.*15 others(812): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
| PTPN4_chr2_119754922_119989899 | 119843900 | G | GGACGGGG others(794): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 201 | 0.0050 | 801 | c.139 others(820): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |