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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRM8_chr7_126433598_127257941 | 126763584 | C | CTAGTTTC others(45): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00738.hp1 others(22): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0033 others(22): Show |
25 | 108 | 0.2315 | 52 | c.135 others(71): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59227004 | T | TCTTTCTT others(45): Show |
intron_variant | MODIFIER | HG02145.hp2 NA20752.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0158 a0003c0005t0001g0114 |
2 | 408 | 0.0049 | 52 | c.382 others(69): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GRP_chr18_59215158_59235771 | 59227012 | T | TCTTTCTT others(45): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 408 | 0.0025 | 52 | c.382 others(69): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GRTP1_chr13_113319163_113369130 | 113332381 | C | CGTGCACA others(45): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 288 | 0.0035 | 52 | c.563 others(69): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113352362 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00733.hp1 others(47): Show |
a0001a0004a0013others(2): Show | a0001c0001a0004c0005a0013c0014others(2): Show | a0001c0001t0001a0001c0001t0002a0004c0005t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0047 a0001c0001t0001g0104 others(46): Show |
50 | 288 | 0.1736 | 52 | c.341 others(69): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
GSG1L2_chr17_9795608_9827079 | 9816870 | C | CTGTGTGT others(45): Show |
intron_variant | MODIFIER | HG02257.hp2 NA18522.hp1 |
a0001a0009 | a0001c0003a0009c0013 | a0001c0003t0002a0009c0013t0018 | a0001c0003t0002g0131 a0009c0013t0018g0132 |
2 | 474 | 0.0042 | 52 | c.310 others(69): Show |
GSG1L2 | ENSG00000214978.8 | transcript | ENST00000399363.5 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27979642 | G | GGAAAGAA others(45): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02145.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0007 a0001c0001t0003g0202 a0001c0002t0001g0013 others(1): Show |
4 | 240 | 0.0167 | 52 | c.350 others(71): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27979661 | A | AAGAAAGA others(45): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0060 | 1 | 240 | 0.0042 | 52 | c.350 others(71): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27979697 | A | AAGAAAGA others(45): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0078 | 1 | 240 | 0.0042 | 52 | c.350 others(71): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
GTDC1_chr2_143933068_144337512 | 144084819 | A | ACTTTCAG others(45): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0034 | 1 | 124 | 0.0081 | 52 | c.521 others(71): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | |||||||
GTF2F2_chr13_45115510_45289893 | 45212520 | C | CTCTTTCT others(45): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(23): Show |
26 | 210 | 0.1238 | 52 | c.386 others(69): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169686 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG03831.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0033others(1): Show | a0001c0001t0002g0038 a0001c0001t0002g0250 a0001c0001t0002g0270 others(3): Show |
6 | 384 | 0.0156 | 52 | c.-34 others(67): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GUCA2A_chr1_42157690_42169745 | 42166943 | G | GTGTGTGT others(45): Show |
upstream_gene_variant | MODIFIER | NA18997.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 436 | 0.0023 | 52 | c.-22 others(63): Show |
GUCA2A | ENSG00000197273.4 | transcript | ENST00000357001.3 | protein_coding | 2199 | chr1 | TogoVar | |||||||
GXYLT1_chr12_42076845_42149874 | 42098762 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0203 | 1 | 398 | 0.0025 | 52 | c.865 others(67): Show |
GXYLT1 | ENSG00000151233.11 | transcript | ENST00000398675.8 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
GYG2_chrX_2823930_2887818 | 2844532 | A | ATATATGT others(45): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0126 | 1 | 316 | 0.0032 | 52 | c.149 others(69): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GYG2_chrX_2823930_2887818 | 2844755 | C | CACACGCA others(45): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00741.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0052 a0001c0001t0001g0181 a0001c0001t0001g0196 others(15): Show |
18 | 316 | 0.0570 | 52 | c.149 others(69): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
H1-7_chr12_48323980_48335279 | 48332921 | A | ACCCCCCC others(45): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 | a0010 | a0010c0008 | a0010c0008t0001 | a0010c0008t0001g0000 | 1 | 424 | 0.0024 | 52 | c.*28 others(63): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2643 | chr12 | TogoVar | |||||||
H1-7_chr12_48323980_48335279 | 48332921 | A | ACCCCCCC others(45): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0000 | 1 | 424 | 0.0024 | 52 | c.*28 others(63): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2643 | chr12 | TogoVar | |||||||
HACD1_chr10_17584032_17622374 | 17591780 | A | ATTTCTTT others(45): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(139): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0010others(5): Show | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0020 others(122): Show |
142 | 410 | 0.3463 | 52 | c.785 others(69): Show |
HACD1 | ENSG00000165996.14 | transcript | ENST00000361271.8 | protein_coding | 6/6 | chr10 | TogoVar | |||||||
HADH_chr4_107984889_108040171 | 108022201 | A | ATGTGTGT others(45): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 304 | 0.0033 | 52 | c.547 others(69): Show |
HADH | ENSG00000138796.18 | transcript | ENST00000309522.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119389137 | C | CATATATA others(45): Show |
intron_variant | MODIFIER | HG01934.hp2 NA18954.hp2 NA18967.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0222 a0001c0002t0003g0055 |
3 | 428 | 0.0070 | 52 | c.771 others(69): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119389137 | C | CATATATA others(45): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02165.hp1 NA18972.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0233 |
3 | 428 | 0.0070 | 52 | c.771 others(69): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119389148 | A | ATGTGTAT others(45): Show |
intron_variant | MODIFIER | HG02976.hp1 NA18522.hp2 |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0284 a0001c0004t0006g0285 |
2 | 428 | 0.0047 | 52 | c.771 others(69): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAPLN3_chr15_88872294_88900544 | 88897514 | T | TGGCCCCA others(45): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00733.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0233 a0001c0002t0001g0010 a0001c0002t0001g0172 others(5): Show |
14 | 436 | 0.0321 | 52 | c.-21 others(63): Show |
HAPLN3 | ENSG00000140511.12 | transcript | ENST00000359595.8 | protein_coding | 1971 | chr15 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164711 | G | GGCGGGGC others(45): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 NA18963.hp2 NA18967.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 370 | 0.0135 | 52 | c.-12 others(63): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1266 | chr16 | TogoVar | |||||||
HBZ_chr16_147644_159503 | 154177 | G | GGGTCGCG others(45): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 432 | 0.0023 | 52 | c.300 others(65): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HBZ_chr16_147644_159503 | 154177 | G | GGGTCGCG others(45): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 432 | 0.0023 | 52 | c.300 others(65): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HCFC2_chr12_104059531_104111524 | 104087470 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0164 | 1 | 382 | 0.0026 | 52 | c.123 others(69): Show |
HCFC2 | ENSG00000111727.12 | transcript | ENST00000229330.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HCK_chr20_32047242_32106856 | 32094799 | A | AAGAAAGA others(45): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 290 | 0.0035 | 52 | c.124 others(69): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45376251 | A | AGAATATA others(45): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 226 | 0.0044 | 52 | c.123 others(73): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 605332 | T | TGGGGACC others(45): Show |
intron_variant | MODIFIER | HG01123.hp2 HG03654.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0002 | a0001c0001t0002g0169 a0001c0008t0002g0128 |
2 | 408 | 0.0049 | 52 | c.121 others(69): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 605368 | C | CGGGCCCT others(45): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01261.hp2 HG02148.hp2 |
a0001a0003a0010 | a0001c0024a0003c0065a0010c0133 | a0001c0024t0001a0003c0065t0001a0010c0133t0001 | a0001c0024t0001g0036 a0003c0065t0001g0034 a0010c0133t0001g0033 |
3 | 408 | 0.0074 | 52 | c.121 others(69): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 605429 | T | TCAGAGGT others(45): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0022 | a0001c0022t0004 | a0001c0022t0004g0247 | 1 | 408 | 0.0025 | 52 | c.121 others(69): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 605585 | T | TCAGAGGT others(45): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02145.hp2 HG02280.hp2 |
a0002 | a0002c0010a0002c0039a0002c0089 | a0002c0010t0001a0002c0039t0005a0002c0089t0004 | a0002c0010t0001g0359 a0002c0039t0005g0338 a0002c0089t0004g0358 |
3 | 408 | 0.0074 | 52 | c.121 others(69): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 605637 | A | ACAGAGGT others(45): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0112 | a0001c0112t0003 | a0001c0112t0003g0159 | 1 | 408 | 0.0025 | 52 | c.121 others(69): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 605644 | T | TGGGGACC others(45): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01261.hp2 |
a0003a0010 | a0003c0065a0010c0133 | a0003c0065t0001a0010c0133t0001 | a0003c0065t0001g0034 a0010c0133t0001g0033 |
2 | 408 | 0.0049 | 52 | c.121 others(69): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 605648 | G | GACCCAGG others(45): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0036 | 1 | 408 | 0.0025 | 52 | c.121 others(69): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239232736 | C | CCCTCACC others(45): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0164 | 1 | 242 | 0.0041 | 52 | c.94+ others(67): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 3/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239232814 | T | TCCCTCAC others(45): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02896.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0006a0001c0003t0002a0001c0003t0007others(2): Show | a0001c0001t0006g0227 a0001c0003t0002g0144 a0001c0003t0007g0124 others(2): Show |
5 | 242 | 0.0207 | 52 | c.94+ others(67): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 3/26 | chr2 | TogoVar | |||||||
HDAC9_chr7_18490749_19007416 | 18786486 | C | CTTCCTTC others(45): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02630.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0006t0009 | a0001c0001t0006g0039 a0001c0006t0009g0042 |
2 | 156 | 0.0128 | 52 | c.221 others(71): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18786486 | C | CTTTCTTC others(45): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0153 | 1 | 156 | 0.0064 | 52 | c.221 others(71): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HDGFL3_chr15_83122753_83212823 | 83176939 | C | CCTTCTCA others(45): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01109.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0011others(15): Show | a0001c0001t0004g0002 a0001c0001t0004g0086 a0001c0001t0004g0087 others(43): Show |
48 | 246 | 0.1951 | 52 | c.85- others(69): Show |
HDGFL3 | ENSG00000166503.9 | transcript | ENST00000299633.7 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36984215 | A | AAAAAAAA others(45): Show |
intron_variant | MODIFIER | HG02083.hp2 NA19080.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0168 a0002c0003t0002g0169 |
2 | 314 | 0.0064 | 52 | c.591 others(71): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36984215 | A | AAAAAAAA others(45): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0174 | 1 | 314 | 0.0032 | 52 | c.591 others(71): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 37037145 | G | GAGATGGA others(45): Show |
intron_variant | MODIFIER | HG01978.hp1 HG04199.hp1 NA18982.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0120 a0001c0002t0001g0247 a0001c0002t0001g0273 others(1): Show |
4 | 314 | 0.0127 | 52 | c.321 others(69): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 21/35 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 37037145 | G | GATATATA others(45): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18959.hp2 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0001a0002c0003t0002 | a0001c0004t0001g0096 a0002c0003t0002g0049 |
2 | 314 | 0.0064 | 52 | c.321 others(69): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 21/35 | chr2 | TogoVar | |||||||
HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(45): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0008 | a0008c0026 | a0008c0026t0144 | a0008c0026t0144g0327 | 1 | 362 | 0.0028 | 52 | c.373 others(71): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | |||||||
HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(45): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02735.hp1 HG06807.hp1 |
a0001a0012 | a0001c0002a0012c0029 | a0001c0002t0005a0001c0002t0024a0012c0029t0048 | a0001c0002t0005g0293 a0001c0002t0024g0139 a0012c0029t0048g0037 |
3 | 362 | 0.0083 | 52 | c.373 others(71): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | |||||||
HEG1_chr3_124960710_125060997 | 124987952 | C | CACACACA others(45): Show |
intron_variant | MODIFIER | HG01928.hp2 HG04184.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0130 a0001c0002t0001g0143 |
2 | 362 | 0.0055 | 52 | c.373 others(71): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 14/16 | chr3 | TogoVar | |||||||
HELB_chr12_66297493_66343199 | 66327064 | A | AATATATA others(45): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0023 | a0023c0042 | a0023c0042t0002 | a0023c0042t0002g0188 | 1 | 390 | 0.0026 | 52 | c.267 others(71): Show |
HELB | ENSG00000127311.10 | transcript | ENST00000247815.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |