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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(937): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 273 | 0.0037 | 944 | c.107 others(961): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(937): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0375 | 1 | 273 | 0.0037 | 944 | c.107 others(961): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(937): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0058 | 1 | 273 | 0.0037 | 944 | c.107 others(961): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCTATC others(937): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0111 | 1 | 273 | 0.0037 | 944 | c.107 others(961): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(937): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 201 | 0.0050 | 944 | c.107 others(961): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(937): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 | 1 | 201 | 0.0050 | 944 | c.107 others(961): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(937): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0108 | 1 | 201 | 0.0050 | 944 | c.107 others(961): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(937): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 224 | 0.0045 | 944 | c.107 others(961): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642164 | G | GGGGGGGG others(937): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0115 | 1 | 420 | 0.0024 | 944 | c.*65 others(955): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4450 | chr20 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67444510 | T | TGGGGGGG others(937): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02970.hp1 |
a0004a0007 | a0004c0005a0007c0015 | a0004c0005t0001a0007c0015t0001 | a0004c0005t0001g0264 a0004c0005t0001g0265 a0007c0015t0001g0194 |
3 | 223 | 0.0135 | 944 | c.106 others(965): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(937): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 28 | 0.0357 | 944 | c.113 others(963): 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(937): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 28 | 0.0357 | 944 | c.113 others(963): 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(937): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 28 | 0.0357 | 944 | c.113 others(963): 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(937): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0028 | a0001c0001t0012g0192 a0001c0001t0028g0018 |
2 | 29 | 0.0690 | 944 | c.113 others(963): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
THBS2_chr6_169210785_169258846 | 169242825 | T | TTCCCACC others(937): Show |
intron_variant | MODIFIER | NA18966.hp1 NA18990.hp2 |
a0001 | a0001c0001a0001c0043 | a0001c0001t0001a0001c0043t0001 | a0001c0001t0001g0064 a0001c0043t0001g0165 |
2 | 359 | 0.0056 | 944 | c.695 others(959): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157312850 | G | GGCCTCAT others(937): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 298 | 0.0034 | 944 | c.327 others(961): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157312850 | G | GGCCTCAT others(937): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 298 | 0.0034 | 944 | c.327 others(961): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TP73_chr1_3647516_3741201 | 3693924 | C | CCTCCTCC others(937): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0018 | a0001c0018t0009 | a0001c0018t0009g0328 | 1 | 342 | 0.0029 | 944 | c.186 others(963): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TP73_chr1_3647516_3741201 | 3694310 | C | CCCCTCCT others(937): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0008 | a0002c0008t0019 | a0002c0008t0019g0209 | 1 | 340 | 0.0029 | 944 | c.186 others(963): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(937): Show |
intron_variant | MODIFIER | HG02922.hp2 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0002c0003t0005 | a0001c0001t0006g0088 a0002c0003t0005g0019 |
2 | 99 | 0.0202 | 944 | c.41- others(961): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(937): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0021 | 1 | 62 | 0.0161 | 944 | c.*53 others(955): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(937): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 62 | 0.0161 | 944 | c.*53 others(955): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(937): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0158 | 1 | 2 | 0.5000 | 944 | c.*53 others(955): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(937): Show |
downstream_gene_variant | MODIFIER | HG02273.hp2 NA19067.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0009a0001c0005t0009 | a0001c0002t0009g0054 a0001c0005t0009g0007 |
2 | 3 | 0.6667 | 944 | c.*53 others(955): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(938): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0171 | 1 | 12 | 0.0833 | 945 | c.387 others(964): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100162448 | T | TGTATATA others(938): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0173 | 1 | 40 | 0.0250 | 945 | c.118 others(964): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(938): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 30 | 0.0333 | 945 | c.505 others(964): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344420 | G | GTGTGTGT others(938): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0004 | a0004c0003 | a0004c0003t0018 | a0004c0003t0018g0102 | 1 | 119 | 0.0084 | 945 | c.62+ others(958): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1408167 | C | CTCCAGCC others(938): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0181 | 1 | 180 | 0.0056 | 945 | c.164 others(964): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(938): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0029 | a0029c0029 | a0029c0029t0002 | a0029c0029t0002g0170 | 1 | 218 | 0.0046 | 945 | c.666 others(960): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(938): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 70 | 0.0143 | 945 | c.*51 others(956): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(938): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 HG02132.hp1 HG02165.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0003 | a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0053 others(14): Show |
21 | 90 | 0.2333 | 945 | c.*51 others(956): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(938): Show |
downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 70 | 0.0143 | 945 | c.*51 others(956): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(938): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG02257.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0003 | a0001c0001t0001g0006 a0001c0001t0001g0169 a0001c0001t0001g0206 others(3): Show |
6 | 75 | 0.0800 | 945 | c.*51 others(956): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(938): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG01884.hp2 HG02074.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0003 | a0001c0001t0001g0006 a0001c0001t0001g0168 a0001c0001t0001g0178 others(3): Show |
7 | 76 | 0.0921 | 945 | c.*51 others(956): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 262244 | T | TAGATCTA others(938): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 258 | 0.0039 | 945 | c.-95 others(964): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(938): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 127 | 0.0079 | 945 | c.-95 others(964): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(938): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0249 | 1 | 127 | 0.0079 | 945 | c.-95 others(964): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(938): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02897.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0001 | a0001c0001t0002g0006 a0001c0001t0006g0009 a0001c0002t0001g0008 |
3 | 6 | 0.5000 | 945 | c.347 others(966): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(938): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0002 | 1 | 4 | 0.2500 | 945 | c.347 others(966): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1298686 | T | TCCTACCC others(938): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0044 | 1 | 54 | 0.0185 | 945 | c.811 others(962): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19461746 | C | CCACATTC others(938): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0082 | 1 | 155 | 0.0065 | 945 | c.635 others(962): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
EP400_chr12_131944942_132085460 | 131998636 | T | TCTTTGTA others(938): Show |
intron_variant | MODIFIER | HG01952.hp1 NA18945.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0179 a0002c0001t0001g0111 |
2 | 75 | 0.0267 | 945 | c.282 others(964): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41544953 | T | TCTACCAC others(938): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0037 | 1 | 19 | 0.0526 | 945 | c.520 others(966): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399220 | C | CCACCACC others(938): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0294 | 1 | 288 | 0.0035 | 945 | c.-25 others(962): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399223 | C | CCACCACC others(938): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 295 | 0.0034 | 945 | c.-25 others(962): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399424 | T | TCACCACC others(938): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 174 | 0.0057 | 945 | c.-25 others(962): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152653 | C | CTACCACC others(938): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 270 | 0.0037 | 945 | c.804 others(962): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
IDI1_chr10_1034419_1054119 | 1038848 | C | CACAGGGA others(938): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 370 | 0.0027 | 945 | c.*23 others(956): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 570 | chr10 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(938): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0183 | 1 | 5 | 0.2000 | 945 | c.-41 others(960): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |