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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMIM17_chr19_56638159_56662247 | 56647420 | T | TGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03130.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0036 | a0001c0001t0012g0199 a0001c0001t0012g0200 a0001c0001t0036g0105 |
3 | 418 | 0.0072 | 18 | c.170 others(33): Show |
SMIM17 | ENSG00000268182.6 | transcript | ENST00000598409.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SMIM31_chr4_164749131_164808795 | 164758801 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0081 | 1 | 364 | 0.0028 | 18 | c.-26 others(35): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMIM35_chr11_117998634_118091963 | 118021047 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01975.hp1 HG02055.hp2 others(19): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0007a0002c0002t0011a0002c0002t0029others(1): Show | a0002c0002t0007g0003 a0002c0002t0007g0010 a0002c0002t0007g0011 others(19): Show |
22 | 408 | 0.0539 | 18 | c.8-5 others(31): Show |
SMIM35 | ENSG00000255274.10 | transcript | ENST00000689828.1 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
SMIM35_chr11_117998634_118091963 | 118045330 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG01975.hp1 HG01993.hp1 HG02056.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0021 others(10): Show |
13 | 408 | 0.0319 | 18 | c.8-2 others(33): Show |
SMIM35 | ENSG00000255274.10 | transcript | ENST00000689828.1 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
SMIM35_chr11_117998634_118091963 | 118048946 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02055.hp1 HG02572.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0235 a0001c0001t0003g0042 a0001c0001t0010g0358 others(2): Show |
5 | 408 | 0.0123 | 18 | c.8-3 others(33): Show |
SMIM35 | ENSG00000255274.10 | transcript | ENST00000689828.1 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
SMIM35_chr11_117998634_118091963 | 118051825 | G | GATACTAA others(11): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01346.hp1 HG02647.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0001g0108 a0001c0001t0003g0109 a0001c0001t0010g0360 others(3): Show |
6 | 408 | 0.0147 | 18 | c.7+3 others(33): Show |
SMIM35 | ENSG00000255274.10 | transcript | ENST00000689828.1 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55500790 | A | ATGTATTA others(11): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01257.hp2 HG01891.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0302 others(18): Show |
21 | 340 | 0.0618 | 18 | c.*17 others(39): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55508431 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03540.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0253 |
3 | 340 | 0.0088 | 18 | c.*17 others(37): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMKR1_chr7_129497531_129517918 | 129499488 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 422 | 0.0024 | 18 | c.-33 others(29): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 3042 | chr7 | TogoVar | |||||||
SMN1_chr5_70920087_70958015 | 70936151 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0021 |
2 | 36 | 0.0556 | 18 | c.82- others(33): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SMN2_chr5_70044669_70082595 | 70049196 | T | TACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0013 |
2 | 108 | 0.0185 | 18 | c.-49 others(27): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 472 | chr5 | TogoVar | |||||||
SMOC1_chr14_69874416_70037366 | 69924968 | G | GCAGGGGA others(11): Show |
intron_variant | MODIFIER | HG02818.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0051 |
2 | 270 | 0.0074 | 18 | c.100 others(37): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SMOC1_chr14_69874416_70037366 | 69965377 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01256.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0125 a0001c0001t0001g0155 a0001c0001t0001g0228 others(10): Show |
14 | 270 | 0.0519 | 18 | c.379 others(37): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SMOC1_chr14_69874416_70037366 | 69965404 | T | TAATAATA others(11): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0024 | 1 | 270 | 0.0037 | 18 | c.379 others(37): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SMOC1_chr14_69874416_70037366 | 69965404 | T | TAATAATA others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01081.hp2 others(8): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0004t0006 | a0001c0002t0001g0137 a0001c0002t0002g0138 a0001c0002t0002g0169 others(8): Show |
11 | 270 | 0.0407 | 18 | c.379 others(37): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168448396 | G | GATGGGGA others(11): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0162 | 1 | 180 | 0.0056 | 18 | c.84+ others(33): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168599581 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 180 | 0.0056 | 18 | c.824 others(33): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168599611 | A | ACACATAC others(11): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0162 | 1 | 180 | 0.0056 | 18 | c.824 others(33): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168664384 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02809.hp1 HG03130.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0008t0002 | a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0008t0002g0042 |
3 | 180 | 0.0167 | 18 | c.132 others(35): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOX_chr20_4143828_4192727 | 4166115 | G | GTTGTCAG others(11): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0401 a0001c0003t0001g0402 |
2 | 428 | 0.0047 | 18 | c.-26 others(35): Show |
SMOX | ENSG00000088826.18 | transcript | ENST00000305958.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SMOX_chr20_4143828_4192727 | 4166115 | G | GTTGTCAG others(11): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01496.hp2 HG02083.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0035 a0001c0002t0001g0013 a0001c0002t0001g0189 others(12): Show |
17 | 428 | 0.0397 | 18 | c.-26 others(35): Show |
SMOX | ENSG00000088826.18 | transcript | ENST00000305958.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SMO_chr7_129183633_129218545 | 129196327 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0085 | 1 | 410 | 0.0024 | 18 | c.331 others(35): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SMPD2_chr6_109435724_109448919 | 109448097 | G | GACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0004 | 1 | 438 | 0.0023 | 18 | c.*41 others(29): Show |
SMPD2 | ENSG00000135587.9 | transcript | ENST00000258052.8 | protein_coding | 4179 | chr6 | TogoVar | |||||||
SMR3B_chr4_70378131_70395244 | 70391000 | T | TATATATA others(11): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 462 | 0.0022 | 18 | c.*11 others(29): Show |
SMR3B | ENSG00000171201.12 | transcript | ENST00000304915.8 | protein_coding | 757 | chr4 | TogoVar | |||||||
SMS_chrX_21935709_21999837 | 21988662 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01928.hp1 HG01978.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0187 a0001c0001t0001g0224 a0001c0001t0001g0234 others(6): Show |
9 | 298 | 0.0302 | 18 | c.945 others(35): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMTNL2_chr17_4579529_4613319 | 4606163 | C | CCAGGCTG others(11): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 442 | 0.0023 | 18 | c.126 others(37): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMTN_chr22_31076318_31109624 | 31107583 | G | GCCCCGCC others(11): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0088 others(3): Show |
19 | 362 | 0.0525 | 18 | c.*32 others(29): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 2960 | chr22 | TogoVar | |||||||
SMTN_chr22_31076318_31109624 | 31107602 | C | CCCCGCCC others(11): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 362 | 0.0028 | 18 | c.*33 others(29): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 2979 | chr22 | TogoVar | |||||||
SMU1_chr9_33036765_33081674 | 33039536 | C | CATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 NA18906.hp2 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0069 | a0001c0001t0002g0024 a0001c0001t0005g0044 a0001c0001t0069g0056 |
3 | 418 | 0.0072 | 18 | c.*77 others(29): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 2228 | chr9 | TogoVar | |||||||
SMU1_chr9_33036765_33081674 | 33049764 | C | CCACACAC others(11): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02129.hp1 HG03209.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0083 others(1): Show |
6 | 418 | 0.0144 | 18 | c.129 others(37): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 10/11 | chr9 | TogoVar | |||||||
SMUG1_chr12_54175366_54193985 | 54190332 | G | GCACAGCC others(11): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02486.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0006a0002c0002t0009a0004c0005t0006 | a0001c0001t0006g0055 a0002c0002t0009g0048 a0002c0002t0009g0093 others(5): Show |
10 | 438 | 0.0228 | 18 | c.-14 others(29): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 1348 | chr12 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64566561 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 | 1 | 174 | 0.0058 | 18 | c.101 others(37): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 10/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64605744 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02886.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0024 | a0001c0001t0016g0043 a0001c0002t0024g0167 |
2 | 174 | 0.0115 | 18 | c.91+ others(31): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 2/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64613673 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0091 | 1 | 174 | 0.0058 | 18 | c.53- others(33): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMYD2_chr1_214276159_214342131 | 214299465 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02922.hp1 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0263 a0001c0001t0003g0031 a0001c0001t0003g0034 |
3 | 380 | 0.0079 | 18 | c.174 others(35): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245791952 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0114 | 1 | 150 | 0.0067 | 18 | c.107 others(39): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245797828 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 150 | 0.0067 | 18 | c.107 others(39): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245833073 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 | 1 | 150 | 0.0067 | 18 | c.107 others(39): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245896389 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 150 | 0.0067 | 18 | c.813 others(37): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245921547 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 150 | 0.0067 | 18 | c.703 others(35): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 7/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246023807 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02165.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0002g0017 others(3): Show |
6 | 150 | 0.0400 | 18 | c.532 others(37): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246125077 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02886.hp1 HG03195.hp2 |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0006t0001a0002c0003t0001 | a0001c0001t0001g0018 a0001c0006t0001g0048 a0002c0003t0001g0137 |
3 | 150 | 0.0200 | 18 | c.532 others(39): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246125079 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 150 | 0.0067 | 18 | c.532 others(39): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246310186 | C | CTGTGGGA others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03225.hp2 NA18522.hp2 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0108 a0002c0003t0002g0114 a0002c0003t0002g0150 |
3 | 150 | 0.0200 | 18 | c.531 others(37): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246348060 | T | TCATATAT others(11): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0098 | 1 | 150 | 0.0067 | 18 | c.228 others(35): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246348060 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02451.hp2 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0123 a0002c0007t0001g0132 |
2 | 150 | 0.0133 | 18 | c.228 others(35): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246481593 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0099 | 1 | 150 | 0.0067 | 18 | c.164 others(37): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246481621 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0106 | 1 | 150 | 0.0067 | 18 | c.164 others(37): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246481621 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 150 | 0.0067 | 18 | c.164 others(37): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1794105 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0027 | 1 | 390 | 0.0026 | 18 | c.153 others(37): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar |