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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(780): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 27 | 0.0370 | 787 | c.-75 others(806): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 934437 | G | GGCTGCGT others(780): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 411 | 0.0024 | 787 | c.843 others(804): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934437 | G | GGCTGCGT others(780): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0185 | 1 | 411 | 0.0024 | 787 | c.843 others(804): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934322 | G | GTATTCCA others(780): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 283 | 0.0035 | 787 | c.115 others(804): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(780): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 2 | 0.5000 | 787 | c.624 others(802): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197196 | T | TCTATCCA others(780): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0043 | 1 | 416 | 0.0024 | 787 | c.107 others(804): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377320 | C | CCCCACCC others(780): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0256 | 1 | 333 | 0.0030 | 787 | c.-13 others(798): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1295 | chr19 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(780): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0096 | 1 | 24 | 0.0417 | 787 | c.82+ others(802): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467180 | T | TGTGGGGA others(780): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0029 | a0029c0028 | a0029c0028t0006 | a0029c0028t0006g0041 | 1 | 209 | 0.0048 | 787 | c.*79 others(796): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 671 | chrX | TogoVar | |||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(780): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 9 | 0.1111 | 787 | c.4-1 others(800): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318246 | C | CACCTCCC others(781): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0005 | a0005c0005 | a0005c0005t0008 | a0005c0005t0008g0108 | 1 | 246 | 0.0041 | 788 | c.-35 others(799): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3467 | chr5 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(781): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0016 | a0001c0016t0024 | a0001c0016t0024g0053 | 1 | 5 | 0.2000 | 788 | c.234 others(809): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLTCL1_chr22_19174473_19296719 | 19202402 | C | CCGCCATC others(781): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0118 | 1 | 324 | 0.0031 | 788 | c.360 others(805): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19202402 | C | CCGCCATC others(781): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0135 | 1 | 324 | 0.0031 | 788 | c.360 others(805): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(781): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 13 | 0.0769 | 788 | c.109 others(807): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134729517 | T | TGTGTGTG others(781): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0001 | 2 | 178 | 0.0112 | 788 | c.925 others(803): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287088 | T | TACAATGT others(781): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 439 | 0.0023 | 788 | c.51+ others(803): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647359 | A | ACACCCCT others(781): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 140 | 0.0071 | 788 | c.*52 others(799): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2015 | chr15 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(781): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0004 | a0004c0057 | a0004c0057t0080 | a0004c0057t0080g0075 | 1 | 2 | 0.5000 | 788 | c.415 others(809): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(781): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03540.hp1 |
a0002a0008 | a0002c0015a0008c0029 | a0002c0015t0021a0008c0029t0013 | a0002c0015t0021g0008 a0008c0029t0013g0054 |
2 | 3 | 0.6667 | 788 | c.415 others(809): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAT others(781): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0105 | a0001c0105t0001 | a0001c0105t0001g0029 | 1 | 2 | 0.5000 | 788 | c.415 others(809): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(781): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0051 | 1 | 270 | 0.0037 | 788 | c.-51 others(799): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | |||||||
FBXO47_chr17_38931432_38972403 | 38946707 | T | TATATAAA others(781): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 224 | 0.0045 | 788 | c.617 others(805): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(781): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 2 | 0.5000 | 788 | c.123 others(809): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(781): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0004 | a0004c0012 | a0004c0012t0020 | a0004c0012t0020g0032 | 1 | 2 | 0.5000 | 788 | c.123 others(809): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(781): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01071.hp1 others(56): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0033 others(56): Show |
59 | 60 | 0.9833 | 788 | c.123 others(809): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(781): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 130 | 0.0077 | 788 | c.684 others(801): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316000 | G | GACACACA others(781): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0105 | 1 | 78 | 0.0128 | 788 | c.488 others(803): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925848 | A | ATTGGTTG others(781): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0112 | 1 | 364 | 0.0027 | 788 | c.666 others(805): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(781): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 788 | c.507 others(807): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104824178 | A | ATATATAA others(781): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 83 | 0.0120 | 788 | c.683 others(807): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LRRIQ1_chr12_85031351_85250105 | 85112497 | T | TAAGAGTT others(781): Show |
intron_variant | MODIFIER | HG01256.hp2 HG03098.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0156 |
3 | 200 | 0.0150 | 788 | c.337 others(807): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(781): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 125 | 0.0080 | 788 | c.-49 others(799): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MMD2_chr7_4900998_4964187 | 4960054 | G | GTGGGAAG others(781): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0147 | 1 | 164 | 0.0061 | 788 | c.-10 others(799): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 868 | chr7 | TogoVar | |||||||
MYRIP_chr3_39804609_40265321 | 40084296 | T | TATAATAC others(781): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0036 | 1 | 105 | 0.0095 | 788 | c.332 others(807): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TCTCCTCT others(781): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0037 | 1 | 206 | 0.0049 | 788 | c.433 others(805): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(781): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0049 | 1 | 30 | 0.0333 | 788 | c.433 others(805): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(781): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG02258.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0035 |
12 | 146 | 0.0822 | 788 | c.*31 others(799): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(781): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 135 | 0.0074 | 788 | c.*31 others(799): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811357 | C | CCCTTCCT others(781): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0118 | 1 | 17 | 0.0588 | 788 | c.773 others(803): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318246 | C | CACCTCCC others(781): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 330 | 0.0030 | 788 | c.*37 others(799): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3273 | chr5 | TogoVar | |||||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(781): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0173 | 1 | 4 | 0.2500 | 788 | c.328 others(807): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(781): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0176 | 1 | 4 | 0.2500 | 788 | c.328 others(807): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 165509 | G | GGCTCACA others(781): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0015 | a0001c0015t0064 | a0001c0015t0064g0153 | 1 | 127 | 0.0079 | 788 | c.347 others(807): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(781): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 HG01346.hp2 |
a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0108 a0003c0008t0001g0109 |
2 | 200 | 0.0100 | 788 | c.-46 others(799): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(781): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0016 | 1 | 3 | 0.3333 | 788 | c.159 others(805): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9792159 | T | TAGAATAG others(781): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0091 | 1 | 193 | 0.0052 | 788 | c.165 others(805): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35914283 | A | AGTGTGTG others(781): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0003 | 1 | 225 | 0.0044 | 788 | c.*35 others(799): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2598 | chr9 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852416 | C | CCCAGATC others(781): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0065 | 1 | 316 | 0.0032 | 788 | c.645 others(805): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(781): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02895.hp1 HG02896.hp2 |
a0001 | a0001c0011a0001c0062 | a0001c0011t0057a0001c0062t0211 | a0001c0011t0057g0073 a0001c0011t0057g0074 a0001c0062t0211g0192 |
3 | 92 | 0.0326 | 788 | c.272 others(807): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar |