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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(963): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 320 | 0.0031 | 970 | c.380 others(987): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(963): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 320 | 0.0031 | 970 | c.380 others(987): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(963): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 320 | 0.0031 | 970 | c.380 others(987): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(963): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0168 | 1 | 320 | 0.0031 | 970 | c.380 others(987): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(963): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0153 | 1 | 230 | 0.0044 | 970 | c.724 others(989): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(963): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0003 | a0003c0011 | a0003c0011t0002 | a0003c0011t0002g0110 | 1 | 148 | 0.0068 | 970 | c.183 others(989): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DNAJC11_chr1_6629170_6706816 | 6705535 | G | GTCTTGGC others(963): Show |
upstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0249 | 1 | 366 | 0.0027 | 970 | c.-37 others(981): Show |
DNAJC11 | ENSG00000007923.17 | transcript | ENST00000377577.10 | protein_coding | 3720 | chr1 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619524 | T | TGCTCCCC others(963): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 250 | 0.0040 | 970 | c.-10 others(989): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71618411 | T | TGGCATGT others(963): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 192 | 0.0052 | 970 | c.441 others(989): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71618411 | T | TGGCATGT others(963): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 208 | 0.0048 | 970 | c.446 others(989): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HOMEZ_chr14_23267422_23291132 | 23280705 | T | TATATTTT others(963): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0127 | 1 | 394 | 0.0025 | 970 | c.41- others(985): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173147 | C | CCTCTCTC others(963): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0004 | a0004c0011 | a0004c0011t0040 | a0004c0011t0040g0060 | 1 | 158 | 0.0063 | 970 | c.*11 others(991): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514270 | T | TCCTCCCT others(963): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0008 | a0008c0008 | a0008c0008t0005 | a0008c0008t0005g0003 | 1 | 254 | 0.0039 | 970 | c.-84 others(987): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(963): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01978.hp2 HG02300.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0039 | a0001c0001t0009g0001 a0001c0001t0009g0004 a0001c0001t0009g0007 others(2): Show |
5 | 242 | 0.0207 | 970 | c.174 others(989): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(963): Show |
intron_variant | MODIFIER | NA18982.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005 a0001c0001t0009g0006 |
2 | 242 | 0.0083 | 970 | c.174 others(989): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(963): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0161 | 1 | 278 | 0.0036 | 970 | c.115 others(987): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(963): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 272 | 0.0037 | 970 | c.250 others(985): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535781 | A | AGGGGGGA others(963): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 324 | 0.0031 | 970 | c.140 others(987): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841628 | A | AAGCAGGT others(963): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 242 | 0.0041 | 970 | c.361 others(989): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGC others(963): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0066 | 1 | 242 | 0.0041 | 970 | c.360 others(989): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133354205 | G | GTGGTGGT others(963): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01258.hp1 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0016 | a0001c0001t0001g0011 a0001c0001t0008g0010 a0001c0001t0016g0012 |
3 | 68 | 0.0441 | 970 | c.61+ others(989): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(963): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 308 | 0.0033 | 970 | c.371 others(987): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(963): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070 | 1 | 308 | 0.0033 | 970 | c.371 others(987): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(963): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0178 | 1 | 334 | 0.0030 | 970 | c.45- others(985): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTACATTA others(963): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0041 | 1 | 160 | 0.0063 | 970 | c.389 others(991): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 340766 | T | TCCCACCC others(963): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0099 | 1 | 133 | 0.0075 | 970 | c.-21 others(989): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
SART1_chr11_65956734_65985137 | 65971393 | T | TGCTGAGG others(963): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01433.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0219 a0001c0002t0002g0220 |
2 | 384 | 0.0052 | 970 | c.157 others(989): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(963): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0007 | 1 | 186 | 0.0054 | 970 | c.-50 others(981): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(963): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(1): Show | a0001c0001t0001g0157 a0001c0001t0002g0017 a0001c0001t0020g0032 others(1): Show |
4 | 258 | 0.0155 | 970 | c.113 others(989): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(963): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01243.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0072 a0001c0001t0002g0164 a0001c0001t0003g0073 others(1): Show |
4 | 258 | 0.0155 | 970 | c.113 others(989): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(963): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 258 | 0.0039 | 970 | c.113 others(989): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(963): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0225 | 1 | 238 | 0.0042 | 970 | c.392 others(987): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
ADAMTS16_chr5_5135330_5325304 | 5305033 | C | CCCACACC others(964): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0244 | 1 | 332 | 0.0030 | 971 | c.318 others(990): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(964): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0020 | a0020c0048 | a0020c0048t0002 | a0020c0048t0002g0015 | 1 | 218 | 0.0046 | 971 | c.108 others(988): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(964): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0044 | 1 | 262 | 0.0038 | 971 | c.106 others(990): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(964): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 | 1 | 246 | 0.0041 | 971 | c.298 others(988): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
C15orf40_chr15_82989817_83016639 | 82991506 | C | CTGCACTC others(964): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG01433.hp1 |
a0003 | a0003c0003 | a0003c0003t0043 | a0003c0003t0043g0054 | 2 | 406 | 0.0049 | 971 | c.*14 others(984): Show |
C15orf40 | ENSG00000169609.14 | transcript | ENST00000304177.10 | protein_coding | 3310 | chr15 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1003268 | C | CGGGTGAG others(964): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0263 | 1 | 326 | 0.0031 | 971 | c.324 others(988): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(964): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 398 | 0.0025 | 971 | c.-22 others(982): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(964): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030 | 1 | 236 | 0.0042 | 971 | c.342 others(992): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81577154 | C | CATTACCA others(964): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 268 | 0.0037 | 971 | c.301 others(990): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(964): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0004 | a0002c0004t0059 | a0002c0004t0059g0217 | 1 | 270 | 0.0037 | 971 | c.162 others(992): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(964): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 320 | 0.0031 | 971 | c.380 others(988): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(964): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0106 | 1 | 320 | 0.0031 | 971 | c.380 others(988): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(964): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 320 | 0.0031 | 971 | c.380 others(988): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(964): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0008 | a0008c0011 | a0008c0011t0015 | a0008c0011t0015g0213 | 1 | 320 | 0.0031 | 971 | c.380 others(988): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(964): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02809.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0004g0015 a0001c0001t0004g0017 a0001c0001t0005g0023 others(2): Show |
5 | 320 | 0.0156 | 971 | c.380 others(988): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(964): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0154 | 1 | 320 | 0.0031 | 971 | c.380 others(988): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCTC others(964): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0285 | 1 | 320 | 0.0031 | 971 | c.380 others(988): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657102 | G | GGGGGTGC others(964): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0007 | a0001c0007t0015 | a0001c0007t0015g0200 | 1 | 272 | 0.0037 | 971 | c.109 others(990): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |