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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001g0079 a0001c0001t0001g0123 a0001c0001t0001g0212 others(1): Show |
4 | 223 | 0.0179 | -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 | 238 | 0.0084 | -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 | 440 | 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 | 330 | 0.0212 | -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 | a0002c0002t0001g0075 | 1 | 304 | 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 | 230 | 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 | a0001c0001t0002g0108 | 1 | 416 | 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 | a0001c0027t0096 | a0001c0027t0096g0060 | 1 | 196 | 0.0051 | -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 | a0001c0001t0003g0092 | 1 | 382 | 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 | a0008c0011t0002g0284 | 1 | 384 | 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 | a0002c0002t0001g0030 | 1 | 358 | 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 | 272 | 0.0110 | -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 | a0001c0001t0025 | a0001c0001t0025g0104 | 1 | 228 | 0.0044 | -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 | a0001c0002t0016 | a0001c0002t0016g0237 a0001c0002t0016g0267 |
2 | 386 | 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 | a0001c0001t0008g0148 | 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 | a0022 | a0022c0032 | a0022c0032t0001 | a0022c0032t0001g0246 | 1 | 292 | 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 |
a0004a0031 | a0004c0006a0004c0008a0004c0043others(2): Show | a0004c0006t0001a0004c0008t0001a0004c0008t0002others(3): Show | a0004c0006t0001g0018 a0004c0006t0001g0026 a0004c0006t0001g0028 others(23): Show |
32 | 398 | 0.0804 | -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 | 178 | 0.0112 | -4071 | c.-21 others(19): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SULT1A2_chr16_28586943_28602050 | 28597983 | ACTGAGGC others(4060): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 418 | 0.0024 | -4067 | c.-50 others(10): Show |
SULT1A2 | ENSG00000197165.11 | transcript | ENST00000335715.9 | protein_coding | 934 | chr16 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5619548 | GAAGGAGC others(4056): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0147 | 1 | 162 | 0.0062 | -4063 | c.181 others(19): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 16/24 | chr12 | TogoVar | |||||||
ECPAS_chr9_111355685_111489383 | 111403388 | ACACAAAT others(4056): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01516.hp1 others(36): Show |
a0002a0008 | a0002c0004a0002c0006a0002c0010others(2): Show | a0002c0004t0001a0002c0006t0001a0002c0010t0001others(2): Show | a0002c0004t0001g0313 a0002c0004t0001g0314 a0002c0004t0001g0315 others(35): Show |
39 | 354 | 0.1102 | -4063 | c.265 others(19): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 24/49 | chr9 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122604797 | TGGGGGGC others(4053): Show |
T | exon_loss_variant | HIGH | NA18966.hp2 NA19066.hp2 |
a0068a0077 | a0068c0077a0077c0067 | a0068c0077t0004a0077c0067t0004 | a0068c0077t0004g0218 a0077c0067t0004g0132 |
2 | 282 | 0.0071 | -4060 | c.369 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 31/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122613317 | CGTGGGAG others(4053): Show |
C | exon_loss_variant | HIGH | NA18955.hp1 NA18957.hp2 NA18964.hp2 others(2): Show |
a0013 | a0013c0016a0013c0069 | a0013c0016t0002a0013c0069t0001 | a0013c0016t0002g0205 a0013c0016t0002g0206 a0013c0016t0002g0207 others(2): Show |
5 | 282 | 0.0177 | -4060 | c.450 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 38/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TRIM47_chr17_75869164_75883581 | 75879289 | TCAGGTGA others(4053): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02258.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0006 a0002c0002t0003g0045 a0002c0002t0003g0046 others(1): Show |
13 | 374 | 0.0348 | -4060 | c.-48 others(10): Show |
TRIM47 | ENSG00000132481.7 | transcript | ENST00000254816.6 | protein_coding | 709 | chr17 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(4052): Show |
C | exon_loss_variant | HIGH | HG03831.hp1 HG06807.hp1 |
a0043a0054 | a0043c0092a0054c0113 | a0043c0092t0002a0054c0113t0003 | a0043c0092t0002g0046 a0054c0113t0003g0265 |
2 | 282 | 0.0071 | -4059 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122601959 | TGTCAGCC others(4052): Show |
T | exon_loss_variant | HIGH | HG00673.hp2 HG01081.hp2 HG01099.hp2 others(18): Show |
a0001a0012a0046others(2): Show | a0001c0001a0001c0004a0001c0074others(5): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0003others(6): Show | a0001c0001t0002g0165 a0001c0001t0002g0179 a0001c0001t0002g0183 others(18): Show |
21 | 282 | 0.0745 | -4059 | c.366 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122602824 | TTAAGATG others(4052): Show |
T | exon_loss_variant | HIGH | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(42): Show |
a0001a0012a0021others(11): Show | a0001c0001a0001c0004a0001c0027others(16): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0003others(19): Show | a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0145 others(42): Show |
45 | 282 | 0.1596 | -4059 | c.447 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 37/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 164136368 | CTAAGTGC others(4052): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 102 | 0.0098 | -4059 | c.-32 others(21): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21104690 | ATTGCCTA others(4048): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(2): Show | a0001c0001t0001g0005 a0001c0001t0011g0003 a0001c0001t0012g0045 others(2): Show |
5 | 80 | 0.0625 | -4055 | c.62- others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
ZNF490_chr19_12571100_12615813 | 12584062 | GGCCTCCC others(4047): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(145): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(40): Show | a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 others(145): Show |
148 | 366 | 0.4044 | -4054 | c.163 others(16): Show |
ZNF490 | ENSG00000188033.10 | transcript | ENST00000311437.11 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
SULT1A2_chr16_28586943_28602050 | 28597997 | TTTCCAGG others(4046): Show |
T | upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0035 | 1 | 418 | 0.0024 | -4053 | c.-50 others(11): Show |
SULT1A2 | ENSG00000197165.11 | transcript | ENST00000335715.9 | protein_coding | 948 | chr16 | TogoVar | |||||||
WWC2_chr4_183094257_183325777 | 183226357 | AGGAAACT others(4043): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02970.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0018a0007c0009t0013 | a0001c0001t0018g0235 a0001c0001t0018g0236 a0007c0009t0013g0182 others(1): Show |
4 | 242 | 0.0165 | -4050 | c.523 others(18): Show |
WWC2 | ENSG00000151718.16 | transcript | ENST00000403733.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ZNF878_chr19_12038805_12057961 | 12053911 | GTGATCCG others(4043): Show |
G | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG02027.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0053 |
7 | 346 | 0.0202 | -4050 | c.-51 others(11): Show |
ZNF878 | ENSG00000257446.4 | transcript | ENST00000547628.2 | protein_coding | 951 | chr19 | TogoVar | |||||||
CNTNAP5_chr2_124020287_124926219 | 124449314 | CCATCTCA others(4041): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 64 | 0.0156 | -4048 | c.918 others(17): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88039225 | CGAGGTCA others(4035): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 230 | 0.0044 | -4042 | c.324 others(19): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TBC1D5_chr3_17152168_17747631 | 17500138 | TCCAACTC others(4035): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp2 HG01433.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(21): Show |
24 | 162 | 0.1482 | -4042 | c.97+ others(15): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 3/22 | chr3 | TogoVar | |||||||
KCNJ15_chr21_38251991_38312357 | 38279148 | AGTATTTT others(4033): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0092 | 1 | 406 | 0.0025 | -4040 | c.-11 others(21): Show |
KCNJ15 | ENSG00000157551.19 | transcript | ENST00000398938.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1637052 | ACATGAGG others(4023): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG03453.hp2 NA20300.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0072 a0001c0001t0001g0205 a0003c0005t0001g0004 |
3 | 223 | 0.0135 | -4030 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97364152 | ATATGTAG others(4022): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0125 | 1 | 147 | 0.0068 | -4029 | c.300 others(21): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MBD5_chr2_148016091_148521971 | 148442153 | TGGTGTTT others(4020): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02145.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0008 a0001c0001t0002g0185 a0001c0001t0004g0158 others(3): Show |
6 | 188 | 0.0319 | -4027 | c.-55 others(21): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 113984344 | TACCCATC others(4011): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 67 | 0.0149 | -4018 | c.224 others(19): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 22/23 | chr13 | TogoVar | |||||||
HMGCLL1_chr6_55429373_55584192 | 55476844 | GGTTATAC others(4007): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009 | a0001c0001t0007g0210 a0001c0001t0009g0149 a0001c0001t0009g0150 |
3 | 334 | 0.0090 | -4014 | c.795 others(19): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17499383 | ATGCGGGC others(3999): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 162 | 0.0062 | -4006 | c.97+ others(15): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 3/22 | chr3 | TogoVar | |||||||
DOCK5_chr8_25179689_25420711 | 25262880 | CATGATCT others(3996): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02723.hp2 NA18522.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0009a0001c0035others(1): Show | a0001c0002t0084a0001c0009t0059a0001c0035t0044others(1): Show | a0001c0002t0084g0001 a0001c0009t0059g0008 a0001c0035t0044g0203 others(1): Show |
4 | 210 | 0.0191 | -4003 | c.128 others(17): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 2/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IHO1_chr3_49194498_49263106 | 49197178 | GACGGGGT others(3996): Show |
G | splice_donor_variant others(4): Show |
HIGH | HG01109.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0002 | 1 | 196 | 0.0051 | -4003 | c.-24 others(14): Show |
IHO1 | ENSG00000173421.17 | transcript | ENST00000452691.7 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 67927714 | TGCGCCCG others(3993): Show |
T | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 360 | 0.0028 | -4000 | c.283 others(18): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 23/24 | chr10 | TogoVar | |||||||
XYLT1_chr16_17096769_17475960 | 17381792 | GACAGTCT others(3991): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01109.hp1 HG01952.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0058 a0001c0001t0001g0082 a0001c0001t0002g0049 others(6): Show |
9 | 156 | 0.0577 | -3998 | c.364 others(19): Show |
XYLT1 | ENSG00000103489.12 | transcript | ENST00000261381.7 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
FAM118B_chr11_126206782_126267968 | 126235657 | CACAGGTG others(3988): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 346 | 0.0029 | -3995 | c.86+ others(14): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FRYL_chr4_48492357_48785279 | 48719895 | TAATCCCA others(3987): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 282 | 0.0036 | -3994 | c.-38 others(20): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 1/63 | chr4 | TogoVar | |||||||
LLPH_chr12_66111555_66135750 | 66131757 | TGGTAAAC others(3986): Show |
T | upstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 364 | 0.0028 | -3993 | c.-50 others(11): Show |
LLPH | ENSG00000139233.7 | transcript | ENST00000266604.7 | protein_coding | 1008 | chr12 | TogoVar |