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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LNX2_chr13_27540913_27625529 | 27583255 | T | TGTGTGCG others(34): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0018 | 1 | 107 | 0.0093 | 41 | c.-10 others(60): Show |
LNX2 | ENSG00000139517.9 | transcript | ENST00000316334.5 | protein_coding | 1/9 | chr13 | TogoVar | |||||||
LOC114841035_chr11_64236095_64249132 | 64237126 | G | GAGAGAGA others(34): Show |
upstream_gene_variant | MODIFIER | HG01978.hp2 HG02040.hp2 HG02300.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0001 |
7 | 235 | 0.0298 | 41 | c.-41 others(52): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3968 | chr11 | TogoVar | |||||||
LOC127933115_chrX_23778278_23788367 | 23780502 | A | ATATATAT others(34): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 109 | 0.0092 | 41 | c.-27 others(52): Show |
LOC127933115 | ENSG00000288706.1 | transcript | ENST00000683890.1 | protein_coding | 2775 | chrX | TogoVar | |||||||
LOC127933115_chrX_23778278_23788367 | 23780502 | A | ATATATAT others(34): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 109 | 0.0092 | 41 | c.-27 others(52): Show |
LOC127933115 | ENSG00000288706.1 | transcript | ENST00000683890.1 | protein_coding | 2775 | chrX | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89323584 | C | CAGGGCAG others(34): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 314 | 0.0032 | 41 | c.10- others(56): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89415829 | C | CAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 114 | 0.0088 | 41 | c.9+2 others(54): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC647264_chr13_63827361_63838053 | 63833748 | T | TATATATA others(34): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 415 | 0.0048 | 41 | c.-75 others(50): Show |
LOC647264 | ENSG00000285566.2 | transcript | ENST00000648713.2 | protein_coding | 696 | chr13 | TogoVar | |||||||
LONP1_chr19_5686834_5725146 | 5702497 | C | CGCCCGGC others(34): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02027.hp2 NA18943.hp1 others(3): Show |
a0003a0012 | a0003c0003a0012c0014 | a0003c0003t0001a0012c0014t0001 | a0003c0003t0001g0332 a0003c0003t0001g0333 a0003c0003t0001g0334 others(3): Show |
6 | 371 | 0.0162 | 41 | c.136 others(60): Show |
LONP1 | ENSG00000196365.12 | transcript | ENST00000360614.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
LPP_chr3_188149157_188895671 | 188602164 | A | AATATATA others(34): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0003 | a0002c0003t0014 | a0002c0003t0014g0027 | 1 | 59 | 0.0169 | 41 | c.430 others(58): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LPP_chr3_188149157_188895671 | 188843786 | C | CAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0068 | 1 | 32 | 0.0313 | 41 | c.141 others(62): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRCH1_chr13_46548170_46749898 | 46573866 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 | 1 | 90 | 0.0111 | 41 | c.307 others(60): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LRCH3_chr3_197786254_197893436 | 197817334 | G | GTGTGTGT others(34): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0004 | a0001c0004t0061 | a0001c0004t0061g0029 | 1 | 290 | 0.0034 | 41 | c.534 others(54): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRCOL1_chr12_132598151_132615582 | 132598232 | C | CCCCTCCT others(34): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03098.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0001 | a0002c0002t0002g0029 a0003c0003t0001g0006 |
3 | 354 | 0.0085 | 41 | c.*51 others(52): Show |
LRCOL1 | ENSG00000204583.10 | transcript | ENST00000376608.9 | protein_coding | 4918 | chr12 | TogoVar | |||||||
LRFN2_chr6_40386591_40592364 | 40577103 | C | CTCTTCTC others(34): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 208 | 0.0048 | 41 | c.-19 others(58): Show |
LRFN2 | ENSG00000156564.10 | transcript | ENST00000338305.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
LRFN2_chr6_40386591_40592364 | 40577108 | C | CTCTTCTC others(34): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02027.hp1 HG02486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0006t0001others(1): Show | a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 others(5): Show |
8 | 125 | 0.0640 | 41 | c.-19 others(58): Show |
LRFN2 | ENSG00000156564.10 | transcript | ENST00000338305.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
LRFN5_chr14_41601876_41909549 | 41610661 | T | TAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0039 | 1 | 49 | 0.0204 | 41 | c.-19 others(60): Show |
LRFN5 | ENSG00000165379.14 | transcript | ENST00000298119.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LRIT3_chr4_109843107_109877315 | 109850402 | C | CTTTCTTT others(34): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0006 | 1 | 321 | 0.0031 | 41 | c.117 others(58): Show |
LRIT3 | ENSG00000183423.12 | transcript | ENST00000594814.6 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
LRP1B_chr2_140226423_142136016 | 141544310 | C | CTTCTTCT others(34): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0027 | 1 | 27 | 0.0370 | 41 | c.206 others(60): Show |
LRP1B | ENSG00000168702.18 | transcript | ENST00000389484.8 | protein_coding | 2/90 | chr2 | TogoVar | |||||||
LRRC14B_chr5_186495_201334 | 196705 | A | ATGTCACC others(34): Show |
downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 465 | 0.0022 | 41 | c.*13 others(52): Show |
LRRC14B | ENSG00000185028.4 | transcript | ENST00000328278.4 | protein_coding | 372 | chr5 | TogoVar | |||||||
LRRC40_chr1_70139805_70210579 | 70190677 | T | TAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02132.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0117 |
2 | 92 | 0.0217 | 41 | c.152 others(58): Show |
LRRC40 | ENSG00000066557.6 | transcript | ENST00000370952.4 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
LRRC4C_chr11_40109209_41464652 | 41034464 | T | TATATATG others(34): Show |
intron_variant | MODIFIER | HG03098.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0027 |
2 | 47 | 0.0426 | 41 | c.-49 others(64): Show |
LRRC4C | ENSG00000148948.8 | transcript | ENST00000528697.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
LRRC56_chr11_532527_559912 | 555205 | A | AGGGGCGG others(34): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0021 | 1 | 384 | 0.0026 | 41 | c.*92 others(50): Show |
LRRC56 | ENSG00000161328.11 | transcript | ENST00000270115.8 | protein_coding | 294 | chr11 | TogoVar | |||||||
LRRC61_chr7_150318355_150343156 | 150340846 | T | TGCTTAGC others(34): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 41 | c.*32 others(52): Show |
LRRC61 | ENSG00000127399.15 | transcript | ENST00000359623.9 | protein_coding | 2691 | chr7 | TogoVar | |||||||
LRRC75A_chr17_16436577_16497193 | 16476585 | G | GTAAAAAC others(34): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0199 | 1 | 340 | 0.0029 | 41 | c.247 others(60): Show |
LRRC75A | ENSG00000181350.12 | transcript | ENST00000470794.2 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
LRRC7_chr1_69562922_70149364 | 69781786 | A | AAAGAAAG others(34): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0008 | a0001c0008t0024 | a0001c0008t0024g0107 | 1 | 55 | 0.0182 | 41 | c.304 others(60): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRK1_chr15_100914357_101083257 | 100962823 | A | ACATATAT others(34): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0083 | a0001c0083t0175 | a0001c0083t0175g0081 | 1 | 81 | 0.0123 | 41 | c.98- others(58): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 2/33 | chr15 | TogoVar | |||||||
LRRK1_chr15_100914357_101083257 | 100962823 | A | ACATATAT others(34): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG02280.hp2 others(2): Show |
a0001a0002a0003 | a0001c0066a0001c0070a0001c0103others(2): Show | a0001c0066t0229a0001c0070t0152a0001c0103t0051others(2): Show | a0001c0066t0229g0076 a0001c0070t0152g0073 a0001c0103t0051g0323 others(2): Show |
5 | 85 | 0.0588 | 41 | c.98- others(58): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 2/33 | chr15 | TogoVar | |||||||
LRRN1_chr3_3794431_3854834 | 3834525 | G | GATATATA others(34): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0003 | 1 | 28 | 0.0357 | 41 | c.-27 others(60): Show |
LRRN1 | ENSG00000175928.6 | transcript | ENST00000319331.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRRN1_chr3_3794431_3854834 | 3834527 | T | TATATATA others(34): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01261.hp2 |
a0004 | a0004c0010a0004c0013 | a0004c0010t0006a0004c0013t0031 | a0004c0010t0006g0323 a0004c0013t0031g0017 |
3 | 415 | 0.0072 | 41 | c.-27 others(60): Show |
LRRN1 | ENSG00000175928.6 | transcript | ENST00000319331.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRRTM3_chr10_66921036_67106551 | 66978552 | A | AAAAAAAT others(34): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 47 | 0.0213 | 41 | c.153 others(62): Show |
LRRTM3 | ENSG00000198739.11 | transcript | ENST00000361320.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRTM3_chr10_66921036_67106551 | 66978552 | A | ATAAAAAA others(34): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0265 | 1 | 47 | 0.0213 | 41 | c.153 others(62): Show |
LRRTM3 | ENSG00000198739.11 | transcript | ENST00000361320.5 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
LRRTM4_chr2_76742685_77527376 | 76812776 | C | CCCTCCTC others(34): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 101 | 0.0099 | 41 | c.155 others(62): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
LSAMP_chr3_115797374_116450487 | 116113420 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0075 | 1 | 33 | 0.0303 | 41 | c.156 others(60): Show |
LSAMP | ENSG00000185565.13 | transcript | ENST00000490035.7 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
LSAMP_chr3_115797374_116450487 | 116113420 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0003 | 1 | 33 | 0.0303 | 41 | c.156 others(60): Show |
LSAMP | ENSG00000185565.13 | transcript | ENST00000490035.7 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
LSP1_chr11_1848084_1897263 | 1881607 | G | GCCTCGAG others(34): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0167 | 1 | 292 | 0.0034 | 41 | c.356 others(55): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LTBP2_chr14_74493183_74617237 | 74563247 | T | TCCTTTCG others(34): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0025 | 1 | 280 | 0.0036 | 41 | c.831 others(58): Show |
LTBP2 | ENSG00000119681.12 | transcript | ENST00000261978.9 | protein_coding | 3/35 | chr14 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186425 | G | GGAGGAAC others(34): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 302 | 0.0033 | 41 | c.*27 others(52): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2564 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186714 | G | GGAGGAAC others(34): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 311 | 0.0032 | 41 | c.*24 others(52): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2275 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186833 | G | GGAGGAAC others(34): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 307 | 0.0033 | 41 | c.*23 others(52): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2156 | chr16 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24774678 | A | ATATTCTA others(34): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0115 | 1 | 104 | 0.0096 | 41 | c.396 others(60): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 5/11 | chr11 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24774678 | A | ATATTCTA others(34): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03041.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0013 | a0001c0001t0006g0086 a0001c0003t0013g0046 |
2 | 105 | 0.0190 | 41 | c.396 others(60): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 5/11 | chr11 | TogoVar | |||||||
LY86_chr6_6583720_6659982 | 6657546 | G | GGATCCAA others(34): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 421 | 0.0024 | 41 | c.*29 others(52): Show |
LY86 | ENSG00000112799.9 | transcript | ENST00000230568.5 | protein_coding | 2565 | chr6 | TogoVar | |||||||
LYPLA1_chr8_54041367_54106947 | 54084133 | A | AAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0135 | 1 | 258 | 0.0039 | 41 | c.101 others(60): Show |
LYPLA1 | ENSG00000120992.18 | transcript | ENST00000316963.8 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
LYSMD1_chr1_151154748_151170902 | 151160238 | C | CAAAAAAA others(34): Show |
3_prime_UTR_variant | MODIFIER | HG03491.hp2 NA19007.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0040a0002c0002t0040 | a0001c0001t0040g0140 a0002c0002t0040g0094 |
2 | 36 | 0.0556 | 41 | c.*64 others(50): Show |
LYSMD1 | ENSG00000163155.12 | transcript | ENST00000368908.10 | protein_coding | 3/3 | 643 | chr1 | TogoVar | ||||||
LYZL2_chr10_30606779_30634753 | 30611718 | G | GAAAGAAA others(34): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 NA18997.hp1 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0232 |
3 | 311 | 0.0096 | 41 | c.*23 others(50): Show |
LYZL2 | ENSG00000151033.10 | transcript | ENST00000647634.2 | protein_coding | 60 | chr10 | TogoVar | |||||||
MACC1_chr7_20129655_20222384 | 20160280 | A | ATAAGGTG others(34): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 NA18943.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0043a0002c0002t0095others(1): Show | a0002c0002t0001g0212 a0002c0002t0043g0062 a0002c0002t0043g0085 others(2): Show |
5 | 314 | 0.0159 | 41 | c.116 others(54): Show |
MACC1 | ENSG00000183742.13 | transcript | ENST00000400331.10 | protein_coding | 4/6 | chr7 | TogoVar | |||||||
MACF1_chr1_39199695_39492138 | 39307901 | C | CTTTTTTT others(34): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0181 | 1 | 23 | 0.0435 | 41 | c.279 others(60): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 23/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MACIR_chr5_103253763_103283660 | 103261654 | C | CTTTCTTT others(34): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0012 | a0001c0001t0004g0219 a0001c0002t0012g0218 |
2 | 336 | 0.0060 | 41 | c.-11 others(60): Show |
MACIR | ENSG00000181751.10 | transcript | ENST00000319933.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MACIR_chr5_103253763_103283660 | 103261658 | C | CTTTCTTT others(34): Show |
intron_variant | MODIFIER | HG01257.hp1 NA18946.hp1 NA18973.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 a0001c0001t0002g0223 |
5 | 345 | 0.0145 | 41 | c.-11 others(60): Show |
MACIR | ENSG00000181751.10 | transcript | ENST00000319933.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MACIR_chr5_103253763_103283660 | 103261662 | C | CTTTCTTT others(34): Show |
intron_variant | MODIFIER | HG03516.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 2 | 347 | 0.0058 | 41 | c.-11 others(60): Show |
MACIR | ENSG00000181751.10 | transcript | ENST00000319933.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |