| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NFATC1_chr18_79390930_79534323 | 79400833 | C | CCCCTCCC others(163): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0184 | 1 | 322 | 0.0031 | 170 | c.127 others(187): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NFATC1_chr18_79390930_79534323 | 79400834 | C | CCCTCCCC others(163): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0005 | a0001c0005t0016 | a0001c0005t0016g0147 | 1 | 322 | 0.0031 | 170 | c.127 others(187): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NFATC1_chr18_79390930_79534323 | 79400835 | C | CCTCCCCC others(163): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0179 | 1 | 322 | 0.0031 | 170 | c.127 others(187): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8661037 | C | CCCTTCCT others(163): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0006 | a0006c0006 | a0006c0006t0017 | a0006c0006t0017g0287 | 1 | 366 | 0.0027 | 170 | c.-16 others(191): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NFILZ_chr19_8625633_8686151 | 8678097 | C | CCATCCAT others(163): Show |
3_prime_UTR_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0002 | a0002c0002t0167 | a0002c0002t0167g0162 | 1 | 366 | 0.0027 | 170 | c.*47 others(179): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| NFILZ_chr19_8625633_8686151 | 8678101 | C | CCATCCAT others(163): Show |
3_prime_UTR_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0002 | a0002c0002t0107 | a0002c0002t0107g0228 | 1 | 366 | 0.0027 | 170 | c.*47 others(179): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| NLRP13_chr19_55890945_55937336 | 55930882 | A | ATATATAT others(163): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0006 | a0006c0043 | a0006c0043t0001 | a0006c0043t0001g0085 | 1 | 440 | 0.0023 | 170 | c.319 others(187): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
| NLRP13_chr19_55890945_55937336 | 55931710 | A | AAAGAAAG others(163): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0247 | 1 | 440 | 0.0023 | 170 | c.319 others(185): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
| NLRP8_chr19_55942832_55993629 | 55993508 | C | CCCCCCCT others(163): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0005 | a0001c0005t0018 | a0001c0005t0018g0097 | 1 | 350 | 0.0029 | 170 | c.*55 others(181): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4880 | chr19 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132148904 | C | CGCCGCCT others(163): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 294 | 0.0034 | 170 | c.901 others(183): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132149006 | T | TACCACAC others(163): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0195 | 1 | 294 | 0.0034 | 170 | c.901 others(185): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NOP14_chr4_2932936_2968406 | 2955454 | A | AGCGCCCC others(163): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01928.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0021 | a0001c0001t0001g0009a0001c0001t0005g0161a0001c0001t0021g0185 | 6 | 422 | 0.0142 | 170 | c.473 others(185): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
| NPAS3_chr14_32933879_33809173 | 33087198 | A | AATATATA others(163): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02622.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0035a0002c0005t0015 | a0001c0001t0035g0076a0002c0005t0015g0068 | 2 | 92 | 0.0217 | 170 | c.140 others(189): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| NPAS3_chr14_32933879_33809173 | 33087198 | A | ACTATATA others(163): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0022 | 1 | 92 | 0.0109 | 170 | c.140 others(189): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 2/11 | chr14 | TogoVar | ||||||
| NTSR1_chr20_62703836_62767771 | 62755448 | T | TCCTCCCT others(163): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0008 | a0008c0015 | a0008c0015t0056 | a0008c0015t0056g0253 | 1 | 316 | 0.0032 | 170 | c.916 others(185): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| NTS_chr12_85869295_85887992 | 85879256 | A | ATATTTTA others(163): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01169.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0044a0001c0001t0001g0080others(1): Show | 6 | 420 | 0.0143 | 170 | c.360 others(185): Show |
NTS | ENSG00000133636.11 | transcript | ENST00000256010.7 | protein_coding | 3/3 | chr12 | TogoVar | ||||||
| NTS_chr12_85869295_85887992 | 85879256 | A | ATATTTTA others(163): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 420 | 0.0024 | 170 | c.360 others(185): Show |
NTS | ENSG00000133636.11 | transcript | ENST00000256010.7 | protein_coding | 3/3 | chr12 | TogoVar | ||||||
| NUTM2F_chr9_94313198_94333644 | 94313314 | T | TAATATAT others(163): Show |
downstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 322 | 0.0031 | 170 | c.*51 others(181): Show |
NUTM2F | ENSG00000130950.15 | transcript | ENST00000253262.9 | protein_coding | 4883 | chr9 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 949071 | G | GGCCTCCT others(163): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 242 | 0.0041 | 170 | c.360 others(189): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 949090 | G | GGCCTCCT others(163): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 242 | 0.0041 | 170 | c.360 others(189): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| OBI1_chr13_78609289_78664155 | 78659308 | A | AAGAAAGA others(163): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 296 | 0.0034 | 170 | c.-18 others(179): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 154 | chr13 | TogoVar | ||||||
| ODAD3_chr19_11415605_11440121 | 11424597 | A | ATATATAT others(163): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02056.hp2 HG02083.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118a0001c0001t0001g0126a0001c0001t0001g0129others(1): Show | 4 | 398 | 0.0101 | 170 | c.964 others(185): Show |
ODAD3 | ENSG00000198003.12 | transcript | ENST00000356392.9 | protein_coding | 7/12 | chr19 | TogoVar | ||||||
| ODAD3_chr19_11415605_11440121 | 11424885 | A | ATACCTAT others(163): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 398 | 0.0025 | 170 | c.964 others(185): Show |
ODAD3 | ENSG00000198003.12 | transcript | ENST00000356392.9 | protein_coding | 7/12 | chr19 | TogoVar | ||||||
| ODAD3_chr19_11415605_11440121 | 11424885 | A | ATACCTAT others(163): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 398 | 0.0025 | 170 | c.964 others(185): Show |
ODAD3 | ENSG00000198003.12 | transcript | ENST00000356392.9 | protein_coding | 7/12 | chr19 | TogoVar | ||||||
| ODAD3_chr19_11415605_11440121 | 11424885 | A | ATACCTAT others(163): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 398 | 0.0025 | 170 | c.964 others(185): Show |
ODAD3 | ENSG00000198003.12 | transcript | ENST00000356392.9 | protein_coding | 7/12 | chr19 | TogoVar | ||||||
| OLFM1_chr9_135082668_135126180 | 135124699 | G | GAAAGAGA others(163): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 360 | 0.0028 | 170 | c.*45 others(181): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3520 | chr9 | TogoVar | ||||||
| OR11H4_chr14_20234286_20249349 | 20236873 | T | TATATTAC others(163): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 HG03453.hp1 NA18988.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0189a0001c0001t0001g0204 | 4 | 439 | 0.0091 | 170 | c.-24 others(181): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 2412 | chr14 | TogoVar | ||||||
| OR11H4_chr14_20234286_20249349 | 20236907 | T | TATATTAC others(163): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014others(21): Show | 27 | 439 | 0.0615 | 170 | c.-24 others(181): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 2378 | chr14 | TogoVar | ||||||
| OR11H4_chr14_20234286_20249349 | 20236941 | T | TATATTAC others(163): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 HG02273.hp2 HG02300.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0031a0001c0001t0001g0168a0001c0001t0002g0031others(1): Show | 4 | 439 | 0.0091 | 170 | c.-24 others(181): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 2344 | chr14 | TogoVar | ||||||
| OR11H4_chr14_20234286_20249349 | 20236975 | T | TATATTAC others(163): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 439 | 0.0023 | 170 | c.-23 others(181): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 2310 | chr14 | TogoVar | ||||||
| OR11H4_chr14_20234286_20249349 | 20237063 | T | TAAAATAT others(163): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 439 | 0.0023 | 170 | c.-22 others(181): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 2222 | chr14 | TogoVar | ||||||
| OR5AN1_chr11_59353895_59376714 | 59356682 | A | AGAGGGGA others(163): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0059 | 1 | 358 | 0.0028 | 170 | c.-26 others(181): Show |
OR5AN1 | ENSG00000176495.3 | transcript | ENST00000641998.1 | protein_coding | 2212 | chr11 | TogoVar | ||||||
| OR9A4_chr7_141911399_141925625 | 141913841 | A | AAAATAAA others(163): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 446 | 0.0022 | 170 | c.-28 others(181): Show |
OR9A4 | ENSG00000258083.2 | transcript | ENST00000641559.1 | protein_coding | 2557 | chr7 | TogoVar | ||||||
| OSGIN1_chr16_83948240_83971332 | 83950975 | A | ACACGTAC others(163): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0024 | 1 | 350 | 0.0029 | 170 | c.-24 others(181): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2264 | chr16 | TogoVar | ||||||
| OSGIN1_chr16_83948240_83971332 | 83950975 | A | ACACGTAC others(163): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(116): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(75): Show | 119 | 350 | 0.3400 | 170 | c.-24 others(181): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2264 | chr16 | TogoVar | ||||||
| PADI4_chr1_17303197_17369004 | 17351967 | C | CCAGGGAG others(163): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0142 | 1 | 372 | 0.0027 | 170 | c.115 others(189): Show |
PADI4 | ENSG00000159339.13 | transcript | ENST00000375448.4 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PAK2_chr3_196734857_196837647 | 196811297 | C | CTCCCCTC others(163): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0014 | 2 | 178 | 0.0112 | 170 | c.773 others(185): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PALLD_chr4_168492052_168933441 | 168793354 | C | CATATATA others(163): Show |
intron_variant | MODIFIER | HG00597.hp1 HG03041.hp2 |
a0002a0004 | a0002c0003a0004c0025 | a0002c0003t0005a0004c0025t0005 | a0002c0003t0005g0132a0004c0025t0005g0101 | 2 | 156 | 0.0128 | 170 | c.196 others(191): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PALLD_chr4_168492052_168933441 | 168835647 | T | TAAAGAAT others(163): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0138 | 1 | 156 | 0.0064 | 170 | c.196 others(191): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PASD1_chrX_151558675_151681739 | 151562905 | T | TCGGGGGG others(163): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0134 | 1 | 221 | 0.0045 | 170 | c.-96 others(179): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 769 | chrX | TogoVar | ||||||
| PASD1_chrX_151558675_151681739 | 151562909 | G | GGGGGGGC others(163): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 221 | 0.0045 | 170 | c.-95 others(179): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 765 | chrX | TogoVar | ||||||
| PASD1_chrX_151558675_151681739 | 151562916 | C | CGGGGGGT others(163): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 NA20300.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0197a0001c0003t0002g0201 | 2 | 221 | 0.0091 | 170 | c.-95 others(179): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 758 | chrX | TogoVar | ||||||
| PCBP3_chr21_45638725_45947450 | 45909791 | C | CCCCCCCC others(163): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 292 | 0.0034 | 170 | c.471 others(185): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45909792 | C | CCCCCCCC others(163): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 292 | 0.0034 | 170 | c.471 others(185): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45943991 | T | TCCAGGTG others(163): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090a0001c0001t0003g0098 | 2 | 292 | 0.0069 | 170 | c.*22 others(181): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 1542 | chr21 | TogoVar | ||||||
| PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAAGAAA others(163): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0220 | 1 | 342 | 0.0029 | 170 | c.20- others(185): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAAGAAA others(163): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0159 | 1 | 342 | 0.0029 | 170 | c.20- others(185): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| PDXK_chr21_43714129_43767299 | 43741370 | G | GGCGGGGG others(163): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0347 | 1 | 358 | 0.0028 | 170 | c.143 others(185): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PELI2_chr14_56113411_56306524 | 56200142 | A | AATATTTG others(163): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(125): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0011a0001c0001t0001g0021a0001c0001t0001g0023others(124): Show | 128 | 368 | 0.3478 | 170 | c.207 others(189): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PELI2_chr14_56113411_56306524 | 56200204 | C | CCTTGCCC others(163): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 2 | 368 | 0.0054 | 170 | c.207 others(189): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |