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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIGLEC5_chr19_51605960_51635401 | 51630492 | ATCACGTG others(4902): Show |
A | upstream_gene_variant | MODIFIER | HG03491.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0290 | 1 | 414 | 0.0024 | -4909 | c.-50 others(10): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 92 | chr19 | TogoVar | |||||||
C2orf78_chr2_73779183_73822148 | 73799983 | CACAAACA others(4897): Show |
C | intron_variant | MODIFIER | HG02922.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 212 | 0.0094 | -4904 | c.98- others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NACC2_chr9_136001537_136100289 | 136069476 | AAGGCGGA others(4897): Show |
A | intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 348 | 0.0029 | -4904 | c.-60 others(19): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
C2orf78_chr2_73779183_73822148 | 73784423 | TTTAAAAA others(4894): Show |
T | intron_variant | MODIFIER | HG02895.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0185 | 1 | 212 | 0.0047 | -4901 | c.97+ others(13): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73785037 | GTCAATGC others(4894): Show |
G | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 212 | 0.0047 | -4901 | c.97+ others(15): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73797982 | AGGGAGAG others(4893): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02647.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0166 |
3 | 212 | 0.0142 | -4900 | c.97+ others(17): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73798125 | AAAAGGGG others(4893): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00621.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0117 others(12): Show |
16 | 212 | 0.0755 | -4900 | c.98- others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73801460 | CGTCTTAC others(4893): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01071.hp1 HG01192.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0030 others(15): Show |
20 | 212 | 0.0943 | -4900 | c.98- others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73802088 | GGCTGACA others(4893): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 212 | 0.0047 | -4900 | c.98- others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73802182 | GAGGCACG others(4893): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG03579.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0112 a0001c0001t0001g0141 |
3 | 212 | 0.0142 | -4900 | c.98- others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152320452 | GTGGCCAG others(4893): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0154 | 1 | 172 | 0.0058 | -4900 | c.389 others(17): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 3/58 | chr7 | TogoVar | |||||||
C2orf78_chr2_73779183_73822148 | 73783350 | GATTCAAG others(4884): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG01167.hp1 HG02258.hp1 HG02280.hp2 others(3): Show |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0001 a0003c0002t0002g0021 |
6 | 212 | 0.0283 | -4891 | c.-95 others(12): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76505236 | GATACACG others(4884): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(139): Show |
a0001a0002a0005others(12): Show | a0001c0001a0001c0004a0001c0018others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0020 others(139): Show |
142 | 274 | 0.5183 | -4891 | c.236 others(20): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 15/23 | chr16 | TogoVar | |||||||
SIGLEC5_chr19_51605960_51635401 | 51630515 | GGGGGCTG others(4879): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(114): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0022others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0002others(17): Show | a0001c0001t0001g0039 a0001c0001t0001g0135 a0001c0001t0001g0136 others(90): Show |
117 | 414 | 0.2826 | -4886 | c.-50 others(10): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 115 | chr19 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134268536 | CACGGTGA others(4861): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00738.hp1 others(35): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0001g0062 others(35): Show |
38 | 250 | 0.1520 | -4868 | c.70- others(16): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2277338 | AAGAAAGA others(4860): Show |
A | intron_variant | MODIFIER | HG02004.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0043 | 1 | 50 | 0.0200 | -4867 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18415003 | GTATTTAA others(4857): Show |
G | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 200 | 0.0050 | -4864 | c.333 others(19): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18415003 | GTATTTAA others(4857): Show |
G | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0294 | 1 | 302 | 0.0033 | -4864 | c.171 others(19): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2277420 | AGGGGAAA others(4857): Show |
A | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 50 | 0.0200 | -4864 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
SIGLEC5_chr19_51605960_51635401 | 51630537 | TCCCACCC others(4857): Show |
T | upstream_gene_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 414 | 0.0024 | -4864 | c.-50 others(10): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 137 | chr19 | TogoVar | |||||||
NUP43_chr6_149719315_149751529 | 149725573 | GAGCAAAA others(4854): Show |
G | frameshift_variant others(2): Show |
HIGH | NA18945.hp1 | a0000 | a0000c0005 | a0000c0005t0031 | a0000c0005t0031g0054 | 1 | 328 | 0.0031 | -4861 | c.913 others(14): Show |
p.Gly others(5): Show |
NUP43 | ENSG00000120253.14 | transcript | ENST00000340413.7 | protein_coding | 8/8 | 2572/3831 | 914/1143 | 305/380 | chr6 | TogoVar | |||
DHRSX_chrX_2214506_2505976 | 2277436 | AAGAGAGA others(4853): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0016 | 1 | 50 | 0.0200 | -4860 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
SIGLEC5_chr19_51605960_51635401 | 51630542 | CCCCGACT others(4852): Show |
C | upstream_gene_variant | MODIFIER | NA18978.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0178 | 1 | 414 | 0.0024 | -4859 | c.-50 others(10): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 142 | chr19 | TogoVar | |||||||
MOXD1_chr6_132291055_132406475 | 132386421 | AACAAAAC others(4851): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01515.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 others(4): Show |
8 | 318 | 0.0252 | -4858 | c.264 others(18): Show |
MOXD1 | ENSG00000079931.15 | transcript | ENST00000367963.8 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
MOXD1_chr6_132291055_132406475 | 132386422 | ACAAAACA others(4850): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0242 | 1 | 318 | 0.0031 | -4857 | c.264 others(18): Show |
MOXD1 | ENSG00000079931.15 | transcript | ENST00000367963.8 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
EPHA3_chr3_89102621_89487134 | 89482281 | CCACATGT others(4846): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG02165.hp1 NA18981.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0002a0003c0004t0014 | a0003c0004t0002g0025 a0003c0004t0002g0167 a0003c0004t0002g0171 others(1): Show |
4 | 200 | 0.0200 | -4853 | c.*27 others(11): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 148 | chr3 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178420751 | GGGCTTTG others(4831): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0146 | 1 | 236 | 0.0042 | -4838 | c.362 others(21): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
LINGO3_chr19_2282164_2313154 | 2296984 | CGGGAGGC others(4829): Show |
C | intron_variant | MODIFIER | NA18959.hp1 NA19064.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0039 | a0002c0002t0003g0183 a0002c0002t0039g0043 |
2 | 418 | 0.0048 | -4836 | c.-47 others(17): Show |
LINGO3 | ENSG00000220008.4 | transcript | ENST00000698372.1 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
MCM9_chr6_118808455_118940159 | 118843886 | AGAAAGCA others(4828): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02895.hp1 HG03041.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 others(4): Show |
7 | 348 | 0.0201 | -4835 | c.132 others(20): Show |
MCM9 | ENSG00000111877.18 | transcript | ENST00000619706.5 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
FNDC3B_chr3_172034578_172406669 | 172242515 | GAAGCTAC others(4827): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0005 | a0001c0005t0063 | a0001c0005t0063g0084 | 1 | 196 | 0.0051 | -4834 | c.265 others(16): Show |
FNDC3B | ENSG00000075420.13 | transcript | ENST00000415807.7 | protein_coding | 4/25 | chr3 | TogoVar | |||||||
OR13C5_chr9_104593457_104604413 | 104599580 | TACAGAAA others(4826): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02486.hp2 HG02572.hp1 others(1): Show |
a0009 | a0009c0009 | a0009c0009t0000 | a0009c0009t0000g0000 | 4 | 424 | 0.0094 | -4833 | c.-50 others(10): Show |
OR13C5 | ENSG00000277556.1 | transcript | ENST00000374779.3 | protein_coding | 168 | chr9 | TogoVar | |||||||
ZFP2_chr5_178890913_178938212 | 178921361 | CCATCCCT others(4826): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0007a0001c0004t0009a0001c0004t0020others(1): Show | a0001c0001t0007g0044 a0001c0004t0009g0040 a0001c0004t0009g0041 others(7): Show |
10 | 392 | 0.0255 | -4833 | c.-78 others(17): Show |
ZFP2 | ENSG00000198939.8 | transcript | ENST00000361362.7 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 62214434 | TAACTTAC others(4825): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01993.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0003t0002g0051 |
3 | 244 | 0.0123 | -4832 | c.92- others(17): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
ZNF675_chr19_23647801_23692212 | 23678611 | CTCTAATA others(4820): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0241 a0001c0001t0001g0242 |
4 | 376 | 0.0106 | -4827 | c.3+3 others(13): Show |
ZNF675 | ENSG00000197372.10 | transcript | ENST00000359788.9 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
KLHL1_chr13_69695597_70113452 | 69827834 | CACAATCC others(4815): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01358.hp2 HG01993.hp1 others(15): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(6): Show | a0001c0003t0001g0070 a0001c0003t0001g0095 a0001c0003t0001g0102 others(15): Show |
18 | 182 | 0.0989 | -4822 | c.141 others(20): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
CDCA2_chr8_25454233_25512911 | 25494833 | TAAGAGGA others(4812): Show |
T | intron_variant | MODIFIER | HG00099.hp1 | a0012 | a0012c0013 | a0012c0013t0002 | a0012c0013t0002g0158 | 1 | 326 | 0.0031 | -4819 | c.167 others(19): Show |
CDCA2 | ENSG00000184661.14 | transcript | ENST00000330560.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MBD3L5_chr19_7025578_7038011 | 7033199 | ATCTCGGC others(4805): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp1 HG02622.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0029 a0002c0002t0001g0002 |
2 | 249 | 0.0080 | -4812 | c.*30 others(10): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 189 | chr19 | TogoVar | |||||||
EPPK1_chr8_143852324_143883467 | 143860569 | TGGCGGCG others(4796): Show |
T | conservative_inframe_deletion | MODERATE | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
a0027a0152 | a0027c0042a0152c0293 | a0027c0042t0001a0027c0042t0004a0152c0293t0001 | a0027c0042t0001g0035 a0027c0042t0004g0034 a0152c0293t0001g0102 |
3 | 424 | 0.0071 | -4803 | c.788 others(10): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 12759/16005 | 7882/15267 | 2628/5088 | chr8 | TogoVar | |||
GRIK2_chr6_101388708_102075083 | 101866738 | TAGCCATT others(4793): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 116 | 0.0086 | -4800 | c.152 others(20): Show |
GRIK2 | ENSG00000164418.22 | transcript | ENST00000369134.9 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ORC4_chr2_147925396_148025737 | 148014691 | ATAAAAAA others(4793): Show |
A | intron_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0135 | 1 | 336 | 0.0030 | -4800 | c.-18 others(17): Show |
ORC4 | ENSG00000115947.14 | transcript | ENST00000392857.10 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
EPPK1_chr8_143852324_143883467 | 143859400 | CTCCACGG others(4790): Show |
C | disruptive_inframe_deletion | MODERATE | NA19030.hp1 NA19064.hp1 |
a0223a0246 | a0223c0325a0246c0113 | a0223c0325t0016a0246c0113t0002 | a0223c0325t0016g0194 a0246c0113t0002g0083 |
2 | 424 | 0.0047 | -4797 | c.905 others(10): Show |
p.Glu others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13928/16005 | 9057/15267 | 3019/5088 | chr8 | TogoVar | |||
SCAF8_chr6_154728416_154839221 | 154797105 | ATTTTATA others(4790): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 a0001c0001t0002g0038 |
2 | 282 | 0.0071 | -4797 | c.606 others(15): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20709161 | CGCAGTCT others(4786): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG01109.hp1 others(28): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0002c0003others(18): Show | a0001c0001t0001a0001c0001t0010a0001c0005t0001others(19): Show | a0001c0001t0001g0279 a0001c0001t0010g0332 a0001c0005t0001g0185 others(28): Show |
31 | 360 | 0.0861 | -4793 | c.242 others(19): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZNF182_chrX_47969851_48008989 | 47970057 | TTCACTTA others(4785): Show |
T | downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 270 | 0.0037 | -4792 | c.*13 others(11): Show |
ZNF182 | ENSG00000147118.12 | transcript | ENST00000376943.8 | protein_coding | 4793 | chrX | TogoVar | |||||||
NDST3_chr4_118029486_118263634 | 118204256 | TAATTCGG others(4781): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00735.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0020a0001c0002t0001others(9): Show | a0001c0001t0001g0184 a0001c0001t0020g0113 a0001c0002t0001g0029 others(39): Show |
42 | 216 | 0.1944 | -4788 | c.154 others(21): Show |
NDST3 | ENSG00000164100.9 | transcript | ENST00000296499.6 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
THRB_chr3_24112153_24499850 | 24125043 | ATTCACAG others(4775): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02970.hp1 | a0000 | a0000c0004 | a0000c0004t0054 | a0000c0004t0054g0131 | 1 | 178 | 0.0056 | -4782 | c.886 others(18): Show |
THRB | ENSG00000151090.20 | transcript | ENST00000646209.2 | protein_coding | 10/11 | chr3 | TogoVar | |||||||
DAZ4_chrY_24828919_24912040 | 24861624 | GTGAAGTA others(4773): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00609.hp1 HG01074.hp2 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(25): Show |
28 | 41 | 0.6829 | -4780 | c.121 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ4_chrY_24828919_24912040 | 24861656 | GACTATAT others(4773): Show |
G | exon_loss_variant | HIGH | HG02027.hp1 HG03942.hp1 |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0001a0006c0006t0001 | a0002c0002t0001g0009 a0006c0006t0001g0037 |
2 | 41 | 0.0488 | -4780 | c.128 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23274561 | ATTTTCCA others(4762): Show |
A | exon_loss_variant | HIGH | HG02647.hp2 | a0012 | a0012c0014 | a0012c0014t0001 | a0012c0014t0001g0003 | 1 | 54 | 0.0185 | -4769 | c.165 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ4_chrY_24828919_24912040 | 24887215 | AATGGCAG others(4762): Show |
A | exon_loss_variant | HIGH | NA19072.hp1 NA19076.hp1 |
a0005a0011 | a0005c0005a0011c0010 | a0005c0005t0001a0011c0010t0001 | a0005c0005t0001g0001 a0011c0010t0001g0038 |
2 | 41 | 0.0488 | -4769 | c.178 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 23/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar |