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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYRIP_chr3_39804609_40265321 | 40084517 | G | GTAGATAA others(469): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 3 | 0.3333 | 476 | c.332 others(495): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40084517 | G | GTAGATAA others(469): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0008 | a0002c0008t0008 | a0002c0008t0008g0026 | 1 | 3 | 0.3333 | 476 | c.332 others(495): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40084517 | G | GTAGATAA others(469): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 3 | 0.3333 | 476 | c.332 others(495): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40084517 | G | GTAGATAA others(469): Show |
intron_variant | MODIFIER | HG02922.hp1 NA19066.hp2 |
a0003a0006 | a0003c0003a0006c0016 | a0003c0003t0002a0006c0016t0008 | a0003c0003t0002g0163 a0006c0016t0008g0028 |
2 | 4 | 0.5000 | 476 | c.332 others(495): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40084517 | G | GTAGATAA others(469): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18946.hp2 NA18982.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0071 a0001c0001t0001g0156 a0003c0003t0002g0162 others(1): Show |
4 | 6 | 0.6667 | 476 | c.332 others(495): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40084517 | G | GTAGATAA others(469): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0086 | 1 | 3 | 0.3333 | 476 | c.332 others(495): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCGGT others(469): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 86 | 0.0116 | 476 | c.-41 others(487): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124438778 | C | CAGAGAGA others(469): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0010 | a0010c0061 | a0010c0061t0019 | a0010c0061t0019g0033 | 1 | 40 | 0.0250 | 476 | c.816 others(491): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124438778 | C | CAGAGAGA others(469): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0002 | a0002c0016 | a0002c0016t0004 | a0002c0016t0004g0011 | 1 | 40 | 0.0250 | 476 | c.816 others(491): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAT others(469): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0111 | 1 | 118 | 0.0085 | 476 | c.-75 others(495): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571084 | T | TGTGTGTG others(469): Show |
downstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 476 | c.*26 others(487): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1590 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571108 | T | TGTCTGGC others(469): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0001 | 1 | 350 | 0.0029 | 476 | c.*26 others(487): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571108 | T | TGTGTGTC others(469): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 351 | 0.0057 | 476 | c.*26 others(487): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(469): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0093 | 1 | 276 | 0.0036 | 476 | c.195 others(493): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535607 | G | GGTGCAGG others(469): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0198 | 1 | 284 | 0.0035 | 476 | c.140 others(493): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(469): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0014 | 1 | 38 | 0.0263 | 476 | c.342 others(495): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(469): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0085a0001c0001t0087 | a0001c0001t0085g0305 a0001c0001t0087g0303 |
2 | 206 | 0.0097 | 476 | c.154 others(493): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
OR2T6_chr1_248370746_248396811 | 248383435 | A | AGTGTTTC others(469): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG01167.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0017a0002c0002t0009 | a0001c0001t0001g0006 a0001c0001t0017g0025 a0002c0002t0009g0026 others(1): Show |
17 | 357 | 0.0476 | 476 | c.-15 others(495): Show |
OR2T6 | ENSG00000198104.4 | transcript | ENST00000641644.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T6_chr1_248370746_248396811 | 248383435 | A | AGTGTTTC others(469): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 342 | 0.0058 | 476 | c.-15 others(495): Show |
OR2T6 | ENSG00000198104.4 | transcript | ENST00000641644.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T6_chr1_248370746_248396811 | 248383502 | A | ATGTGTTT others(469): Show |
intron_variant | MODIFIER | NA18990.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 2 | 402 | 0.0050 | 476 | c.-15 others(495): Show |
OR2T6 | ENSG00000198104.4 | transcript | ENST00000641644.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OSGIN1_chr16_83948240_83971332 | 83950478 | T | TACATGCA others(469): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 235 | 0.0043 | 476 | c.-29 others(487): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2761 | chr16 | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70554949 | T | TCCCCTCC others(469): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0007 | a0007c0034 | a0007c0034t0008 | a0007c0034t0008g0206 | 1 | 292 | 0.0034 | 476 | c.226 others(495): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(469): Show |
upstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 182 | 0.0055 | 476 | c.-26 others(487): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCNT_chr21_46319156_46450769 | 46399277 | C | CTCCCTGT others(469): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00621.hp1 others(54): Show |
a0003a0010a0012others(8): Show | a0003c0003a0003c0080a0003c0084others(10): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0005others(12): Show | a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0132 others(54): Show |
57 | 329 | 0.1733 | 476 | c.458 others(493): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 24/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 309566 | T | TGTCCCCG others(469): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG01358.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 others(1): Show |
4 | 333 | 0.0120 | 476 | c.368 others(493): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 309607 | C | CCCAGTGA others(469): Show |
intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01109.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0161 others(7): Show |
12 | 243 | 0.0494 | 476 | c.368 others(493): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 309755 | T | TGGCCGCC others(469): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0267 | 1 | 335 | 0.0030 | 476 | c.368 others(493): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59434007 | T | TTCTTTAG others(469): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 20 | 0.0500 | 476 | c.456 others(497): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571108 | T | TGTCTGGC others(469): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0176 | 1 | 320 | 0.0031 | 476 | c.-10 others(493): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571108 | T | TGTGTGTC others(469): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18943.hp1 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0005 | a0002c0001t0001g0021 a0002c0001t0005g0190 |
2 | 321 | 0.0062 | 476 | c.-10 others(493): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571108 | T | TGTGTGTC others(469): Show |
intron_variant | MODIFIER | HG01975.hp1 NA18964.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0193 a0002c0001t0001g0194 |
2 | 321 | 0.0062 | 476 | c.-10 others(493): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
PTPN4_chr2_119754922_119989899 | 119843893 | A | ACCTCCCG others(469): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 68 | 0.0147 | 476 | c.139 others(495): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPN4_chr2_119754922_119989899 | 119843893 | A | ACCTCCCG others(469): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG01081.hp2 others(24): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0062 others(24): Show |
27 | 94 | 0.2872 | 476 | c.139 others(495): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPN4_chr2_119754922_119989899 | 119843893 | A | ACCTCCCG others(469): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 68 | 0.0147 | 476 | c.139 others(495): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPN4_chr2_119754922_119989899 | 119843893 | A | ACCTCCCG others(469): Show |
intron_variant | MODIFIER | HG00735.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 a0001c0001t0001g0125 |
2 | 69 | 0.0290 | 476 | c.139 others(495): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPN4_chr2_119754922_119989899 | 119843893 | A | ACCTCCCG others(469): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 68 | 0.0147 | 476 | c.139 others(495): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPN4_chr2_119754922_119989899 | 119843893 | A | ACCTCCCG others(469): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01070.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0042 others(28): Show |
31 | 98 | 0.3163 | 476 | c.139 others(495): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 43095897 | C | CCCACCTC others(469): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01261.hp2 HG02109.hp1 others(7): Show |
a0001a0002a0006others(1): Show | a0001c0003a0001c0026a0002c0001others(4): Show | a0001c0003t0001a0001c0003t0020a0001c0026t0007others(5): Show | a0001c0003t0001g0038 a0001c0003t0020g0047 a0001c0026t0007g0059 others(7): Show |
10 | 62 | 0.1613 | 476 | c.88+ others(493): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099650 | C | CACAGCAG others(469): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 61 | 0.0164 | 476 | c.56- others(493): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RBM33_chr7_155639661_155786480 | 155673689 | C | CACGCATA others(469): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0262 | 1 | 302 | 0.0033 | 476 | c.171 others(491): Show |
RBM33 | ENSG00000184863.11 | transcript | ENST00000401878.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RGPD5_chr2_109789305_109862705 | 109794586 | G | GGGGGGAG others(469): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0004 | a0004c0004 | a0004c0004t0014 | a0004c0004t0014g0031 | 1 | 39 | 0.0256 | 476 | c.72+ others(487): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77292742 | T | TTGAGGCT others(469): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0085 | 1 | 115 | 0.0087 | 476 | c.389 others(497): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 272932 | A | ATCAGGGA others(469): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0087 | 1 | 123 | 0.0081 | 476 | c.438 others(493): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158228874 | A | AACACACA others(469): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 158 | 0.0063 | 476 | c.494 others(495): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158228874 | A | AACACACA others(469): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 158 | 0.0063 | 476 | c.494 others(495): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1166026 | C | CCAGATCT others(469): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0185 | 1 | 79 | 0.0127 | 476 | c.-12 others(495): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339818 | T | TTCTACCC others(469): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0122 | 1 | 122 | 0.0082 | 476 | c.89- others(489): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 4083708 | T | TCCTCCCT others(469): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0003 | a0003c0033 | a0003c0033t0002 | a0003c0033t0002g0103 | 1 | 45 | 0.0222 | 476 | c.332 others(495): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2280914 | C | CTGAGAGG others(469): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0254 | 1 | 322 | 0.0031 | 476 | c.970 others(495): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
SLA2_chr20_36607318_36651196 | 36642163 | C | CTCTCAAA others(469): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(199): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(195): Show |
202 | 335 | 0.6030 | 476 | c.-43 others(491): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 1/7 | chr20 | TogoVar |