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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MBD3L5_chr19_7025578_7038011 | 7033787 | GAAATGAA others(4217): Show |
G | downstream_gene_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 248 | 0.0040 | -4224 | c.*89 others(10): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 777 | chr19 | TogoVar | |||||||
PKNOX2_chr11_125159751_125438389 | 125416220 | GTGAACCC others(4216): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0141 a0001c0001t0010g0165 |
2 | 219 | 0.0091 | -4223 | c.936 others(17): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88394913 | CATTCTCC others(4215): Show |
C | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 174 | 0.0057 | -4222 | c.-15 others(20): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 99008576 | CGCAAGCG others(4209): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp1 HG02451.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0367 a0001c0001t0005g0368 a0001c0001t0005g0369 others(1): Show |
4 | 396 | 0.0101 | -4216 | c.-58 others(11): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 785 | chr15 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1395189 | GGAGTCGT others(4203): Show |
G | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0025 | 1 | 39 | 0.0256 | -4210 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1398740 | CCCTCCTC others(4195): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0026 | 1 | 32 | 0.0313 | -4202 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
METAP1D_chr2_171994953_172087430 | 172041305 | AAAAATTA others(4195): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0050 others(64): Show |
67 | 354 | 0.1893 | -4202 | c.41- others(17): Show |
METAP1D | ENSG00000172878.14 | transcript | ENST00000315796.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C16orf89_chr16_5039122_5070956 | 5057216 | AACAGAGT others(4189): Show |
A | exon_loss_variant | HIGH | HG01255.hp1 NA18612.hp2 NA18945.hp2 others(7): Show |
a0003 | a0003c0004a0003c0007 | a0003c0004t0001a0003c0007t0001 | a0003c0004t0001g0033 a0003c0004t0001g0125 a0003c0004t0001g0131 others(6): Show |
10 | 429 | 0.0233 | -4196 | c.359 others(16): Show |
C16orf89 | ENSG00000153446.16 | transcript | ENST00000472572.8 | protein_coding | 4/8 | chr16 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1372326 | GTTTCTAA others(4188): Show |
G | intron_variant | MODIFIER | HG03490.hp2 | a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0042 | 1 | 113 | 0.0088 | -4195 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TSPAN16_chr19_11291160_11320967 | 11316774 | GAGACCAG others(4186): Show |
G | downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 380 | 0.0026 | -4193 | c.*93 others(10): Show |
TSPAN16 | ENSG00000130167.14 | transcript | ENST00000590327.6 | protein_coding | 808 | chr19 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1372258 | ACCAGCCC others(4184): Show |
A | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 113 | 0.0088 | -4191 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | chrX | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120878952 | TAAAATAC others(4182): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 318 | 0.0031 | -4189 | c.23+ others(17): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 63894441 | TGAACTCC others(4176): Show |
T | intron_variant | MODIFIER | HG02071.hp2 | a0036 | a0036c0089 | a0036c0089t0001 | a0036c0089t0001g0061 | 1 | 148 | 0.0068 | -4183 | c.-51 others(19): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 1/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42714234 | GCCTGTAA others(4171): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 250 | 0.0040 | -4178 | c.249 others(17): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HGFAC_chr4_3436968_3454486 | 3444165 | AGCTGGGC others(4171): Show |
A | exon_loss_variant | HIGH | HG00738.hp2 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0057 | 1 | 452 | 0.0022 | -4178 | c.598 others(13): Show |
HGFAC | ENSG00000109758.9 | transcript | ENST00000382774.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC66A1_chr1_19307326_19334300 | 19330124 | GCCTGGCT others(4169): Show |
G | downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 454 | 0.0022 | -4176 | c.*14 others(11): Show |
SLC66A1 | ENSG00000040487.13 | transcript | ENST00000375153.8 | protein_coding | 825 | chr1 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33614342 | TTCCAAAG others(4166): Show |
T | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0100 | 1 | 152 | 0.0066 | -4173 | c.235 others(18): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 19/103 | chr15 | TogoVar | |||||||
SPDYE3_chr7_100302702_100327196 | 100308896 | ATGGTTTG others(4159): Show |
A | exon_loss_variant | HIGH | HG01123.hp2 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0073 | 1 | 341 | 0.0029 | -4166 | c.325 others(13): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21079452 | CTCAGTGT others(4158): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 80 | 0.0125 | -4165 | c.62- others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53582611 | GTGTTCTT others(4153): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0006 | a0006c0007 | a0006c0007t0007 | a0006c0007t0007g0032 | 1 | 234 | 0.0043 | -4160 | c.132 others(20): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 4/10 | chr1 | TogoVar | |||||||
AGAP1_chr2_235489043_236136793 | 235914066 | GGTCTATT others(4152): Show |
G | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0073 | 1 | 97 | 0.0103 | -4159 | c.132 others(19): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HMCN2_chr9_130260760_130439123 | 130268363 | CGAGTGAC others(4151): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01257.hp1 HG01516.hp1 others(7): Show |
a0004a0006a0008others(5): Show | a0004c0005a0004c0171a0006c0198others(6): Show | a0004c0005t0002a0004c0171t0002a0006c0198t0002others(6): Show | a0004c0005t0002g0158 a0004c0171t0002g0155 a0006c0198t0002g0159 others(7): Show |
10 | 256 | 0.0391 | -4158 | c.259 others(17): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 1/97 | chr9 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38431897 | GGGTCTTG others(4146): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0100a0001c0001t0101 | a0001c0001t0100g0142 a0001c0001t0101g0013 |
2 | 222 | 0.0090 | -4153 | c.115 others(21): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
RNF139_chr8_124469880_124493618 | 124480786 | CCCCATCC others(4146): Show |
C | intron_variant | MODIFIER | NA18612.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 406 | 0.0049 | -4153 | c.182 others(16): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
THRB_chr3_24112153_24499850 | 24252882 | CTGTGGAT others(4141): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0059 | 1 | 176 | 0.0057 | -4148 | c.-42 others(19): Show |
THRB | ENSG00000151090.20 | transcript | ENST00000646209.2 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SDCBP2_chr20_1304909_1334139 | 1329994 | GAGCAGAC others(4138): Show |
G | upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 428 | 0.0023 | -4145 | c.-50 others(10): Show |
SDCBP2 | ENSG00000125775.15 | transcript | ENST00000360779.4 | protein_coding | 856 | chr20 | TogoVar | |||||||
TPO_chr2_1408463_1548673 | 1529064 | AACTTCCC others(4133): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0008 | a0008c0011 | a0008c0011t0015 | a0008c0011t0015g0122 | 1 | 126 | 0.0079 | -4140 | c.261 others(20): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IFI16_chr1_159004907_159060151 | 159045042 | CGTGAAGA others(4128): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00642.hp1 HG01192.hp1 HG01516.hp2 others(3): Show |
a0006 | a0006c0010a0006c0019 | a0006c0010t0002a0006c0019t0001 | a0006c0010t0002g0027 a0006c0010t0002g0028 a0006c0010t0002g0212 others(1): Show |
6 | 316 | 0.0190 | -4135 | c.149 others(15): Show |
IFI16 | ENSG00000163565.20 | transcript | ENST00000295809.12 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MMP26_chr11_4699784_4997429 | 4973030 | AGGCACCA others(4128): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 a0001c0001t0001g0132 |
2 | 206 | 0.0097 | -4135 | c.-14 others(21): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FREM2_chr13_38682077_38892131 | 38805148 | GGAAGCAC others(4124): Show |
G | intron_variant | MODIFIER | HG02135.hp1 HG03492.hp2 HG03834.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0068a0002c0010others(5): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(9): Show | a0001c0002t0001g0156 a0001c0002t0004g0141 a0001c0002t0005g0163 others(10): Show |
13 | 260 | 0.0500 | -4131 | c.601 others(21): Show |
FREM2 | ENSG00000150893.11 | transcript | ENST00000280481.9 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
IMMP2L_chr7_110657644_111567492 | 110788328 | CAGTCCAC others(4114): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0043 | 1 | 84 | 0.0119 | -4121 | c.408 others(19): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1395658 | GTATTGAG others(4110): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG02976.hp1 HG03486.hp1 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0005a0002c0001t0019 | a0002c0001t0002g0032 a0002c0001t0005g0035 a0002c0001t0019g0031 |
3 | 40 | 0.0750 | -4117 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1636971 | ACATGAGG others(4104): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02809.hp1 HG02922.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0083 a0001c0001t0001g0122 a0001c0001t0001g0212 others(1): Show |
4 | 209 | 0.0191 | -4111 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PPP2R3A_chr3_135960728_136152894 | 135978191 | GTTATACA others(4103): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0107 a0002c0002t0002g0108 |
2 | 236 | 0.0085 | -4110 | c.-44 others(21): Show |
PPP2R3A | ENSG00000073711.11 | transcript | ENST00000264977.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABRA_chr8_106754483_106775244 | 106771137 | TACTAAAA others(4100): Show |
T | upstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 438 | 0.0023 | -4107 | c.-50 others(10): Show |
ABRA | ENSG00000174429.4 | transcript | ENST00000311955.4 | protein_coding | 894 | chr8 | TogoVar | |||||||
GUCY1A1_chr4_155661848_155742059 | 155673048 | GATTTGAA others(4096): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02818.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0004a0003c0003t0004 | a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0004g0113 others(3): Show |
7 | 328 | 0.0213 | -4103 | c.-11 others(19): Show |
GUCY1A1 | ENSG00000164116.17 | transcript | ENST00000506455.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GBE1_chr3_81484703_81766645 | 81546418 | GAGGGGCT others(4089): Show |
G | intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068 | 1 | 302 | 0.0033 | -4096 | c.161 others(20): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
SLIT2_chr4_20246905_20625561 | 20555010 | CACACCCC others(4089): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0008 | 1 | 228 | 0.0044 | -4096 | c.272 others(19): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 26/36 | chr4 | TogoVar | |||||||
ADAR_chr1_154577057_154613186 | 154592591 | AGGATGAG others(4084): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 414 | 0.0024 | -4091 | c.227 others(18): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 6/14 | chr1 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80909637 | GGGATTAC others(4077): Show |
G | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0027 | a0001c0027t0097 | a0001c0027t0097g0059 | 1 | 194 | 0.0052 | -4084 | c.252 others(18): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 21/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC43A2_chr17_1564268_1633834 | 1599529 | GTCTCTAC others(4077): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 380 | 0.0026 | -4084 | c.501 others(17): Show |
SLC43A2 | ENSG00000167703.15 | transcript | ENST00000301335.10 | protein_coding | 5/13 | chr17 | TogoVar | |||||||
SCARB2_chr4_76153737_76218824 | 76172721 | TTGCCCAG others(4076): Show |
T | exon_loss_variant | HIGH | NA18978.hp1 | a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0264 | 1 | 382 | 0.0026 | -4083 | c.613 others(16): Show |
SCARB2 | ENSG00000138760.11 | transcript | ENST00000264896.8 | protein_coding | 7/12 | chr4 | TogoVar | |||||||
PARL_chr3_183824271_183889880 | 183868938 | AAAAAAAA others(4071): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0033 | 1 | 356 | 0.0028 | -4078 | c.126 others(16): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
ME1_chr6_83205402_83436051 | 83382777 | CAATCTAA others(4070): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG03453.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0208 a0001c0003t0004g0210 a0001c0003t0004g0211 |
3 | 270 | 0.0111 | -4077 | c.362 others(19): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 3/13 | chr6 | TogoVar | |||||||
PHACTR4_chr1_28364740_28505364 | 28377127 | GCCATGTT others(4069): Show |
G | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0104 | 1 | 224 | 0.0045 | -4076 | c.-39 others(18): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15915626 | GTACATCA others(4066): Show |
G | intron_variant | MODIFIER | NA18952.hp2 NA18989.hp1 |
a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0229 a0001c0002t0015g0272 |
2 | 384 | 0.0052 | -4073 | c.111 others(18): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
PCDH11X_chrX_91774375_92628230 | 92129374 | GAGCGAGA others(4066): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0136 | 1 | 154 | 0.0065 | -4073 | c.303 others(21): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | chrX | TogoVar | |||||||
NBEAL1_chr2_203009875_203230194 | 203111919 | TTTGTCAT others(4065): Show |
T | exon_loss_variant | HIGH | HG03688.hp1 | a0016 | a0016c0030 | a0016c0030t0001 | a0016c0030t0001g0246 | 1 | 290 | 0.0034 | -4072 | c.208 others(12): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 16/56 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AKNAD1_chr1_108810901_108862094 | 108825266 | AAGATGAT others(4064): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00558.hp1 HG01070.hp1 HG01074.hp2 others(29): Show |
a0004a0025 | a0004c0004a0004c0008a0004c0036others(2): Show | a0004c0004t0001a0004c0008t0001a0004c0008t0002others(3): Show | a0004c0004t0001g0020 a0004c0004t0001g0031 a0004c0004t0001g0034 others(23): Show |
32 | 396 | 0.0808 | -4071 | c.183 others(19): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 11/16 | chr1 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196767512 | GGAGTCTT others(4064): Show |
G | intron_variant | MODIFIER | HG02630.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0036 | a0001c0001t0021g0042 a0001c0001t0036g0041 |
2 | 176 | 0.0114 | -4071 | c.-21 others(19): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |