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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S1PR4_chr19_3173769_3185332 | 3178090 | CTCGGGCT others(110): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | -117 | c.-70 others(9): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 678 | chr19 | TogoVar | |||||||
S1PR4_chr19_3173769_3185332 | 3178130 | TCGGGCTC others(110): Show |
T | upstream_gene_variant | MODIFIER | HG02622.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 |
2 | 418 | 0.0048 | -117 | c.-66 others(9): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 638 | chr19 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 246560 | CAGAGAAG others(110): Show |
C | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135 | 1 | 266 | 0.0038 | -117 | c.155 others(19): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SEC14L1_chr17_77135969_77222101 | 77216186 | TTAGTAGG others(110): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0367 | 1 | 430 | 0.0023 | -117 | c.*22 others(11): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 17/17 | 2204 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SERPINB7_chr18_63770418_63810370 | 63770480 | TCTTGACC others(110): Show |
T | upstream_gene_variant | MODIFIER | NA19006.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0071 | 1 | 432 | 0.0023 | -117 | c.-52 others(11): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 4937 | chr18 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402349 | CGGCCCCG others(110): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 242 | 0.0041 | -117 | c.*34 others(11): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3366 | chr11 | TogoVar | |||||||
SLC25A11_chr17_4932130_4945046 | 4933822 | AAGCCCGA others(110): Show |
A | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 434 | 0.0046 | -117 | c.*38 others(11): Show |
SLC25A11 | ENSG00000108528.14 | transcript | ENST00000225665.12 | protein_coding | 3307 | chr17 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79919968 | ACAGGAAC others(110): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0337 | 1 | 352 | 0.0028 | -117 | c.392 others(15): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
SLC7A1_chr13_29504414_29600688 | 29558697 | GAGTGAAT others(110): Show |
G | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0173 | 1 | 330 | 0.0030 | -117 | c.-11 others(19): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
SLC7A1_chr13_29504414_29600688 | 29558892 | GGGGGAGT others(110): Show |
G | intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0181 | 1 | 330 | 0.0030 | -117 | c.-11 others(19): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18827519 | CTTTGGTA others(110): Show |
C | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0104 | 1 | 300 | 0.0033 | -117 | c.974 others(17): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 55/62 | chr16 | TogoVar | |||||||
SNAPC1_chr14_61757420_61801428 | 61793564 | ATTTGTTT others(110): Show |
A | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 356 | 0.0028 | -117 | c.107 others(17): Show |
SNAPC1 | ENSG00000023608.5 | transcript | ENST00000216294.5 | protein_coding | 9/9 | chr14 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7448890 | CCCTCCCT others(110): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0005 | a0005c0022 | a0005c0022t0039 | a0005c0022t0039g0153 | 1 | 168 | 0.0060 | -117 | c.548 others(19): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7482166 | TGTTCAGA others(110): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG01952.hp1 others(20): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(20): Show | a0001c0001t0003g0053 a0001c0001t0005g0067 a0001c0001t0010g0129 others(20): Show |
23 | 168 | 0.1369 | -117 | c.549 others(19): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPOCK2_chr10_72054034_72093551 | 72092484 | CTGCAGGG others(110): Show |
C | upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017 | 1 | 372 | 0.0027 | -117 | c.-42 others(11): Show |
SPOCK2 | ENSG00000107742.14 | transcript | ENST00000373109.7 | protein_coding | 3934 | chr10 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45586983 | AAATTATT others(110): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0095 | 1 | 358 | 0.0028 | -117 | c.649 others(17): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 4/20 | chr2 | TogoVar | |||||||
SS18L1_chr20_62138769_62187514 | 62151900 | ATCCCCAG others(110): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 316 | 0.0032 | -117 | c.70- others(15): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
STK3_chr8_98449633_98830688 | 98825777 | CGCCCCGC others(110): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01099.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0112 others(3): Show |
6 | 170 | 0.0353 | -117 | c.-35 others(9): Show |
STK3 | ENSG00000104375.17 | transcript | ENST00000419617.7 | protein_coding | 90 | chr8 | TogoVar | |||||||
STON1_chr2_48525154_48603513 | 48564491 | TCTTCTTC others(110): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG01168.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0004 | a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0208 others(7): Show |
10 | 376 | 0.0266 | -117 | c.-47 others(19): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STON1_chr2_48525154_48603513 | 48564497 | TCTTCTTC others(110): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 NA18964.hp2 others(1): Show |
a0002a0006 | a0002c0002a0006c0012 | a0002c0002t0001a0002c0002t0002a0006c0012t0001 | a0002c0002t0001g0192 a0002c0002t0002g0078 a0006c0012t0001g0071 others(1): Show |
4 | 376 | 0.0106 | -117 | c.-47 others(19): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SULF1_chr8_69487847_69665912 | 69626119 | CACAATCC others(110): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(171): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(171): Show |
174 | 296 | 0.5878 | -117 | c.185 others(18): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SULF1_chr8_69487847_69665912 | 69626151 | AAGGCCCC others(110): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126 | 1 | 296 | 0.0034 | -117 | c.185 others(18): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TAF13_chr1_109059140_109081003 | 109071958 | ATATATAT others(110): Show |
A | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 414 | 0.0024 | -117 | c.106 others(17): Show |
TAF13 | ENSG00000197780.11 | transcript | ENST00000338366.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48497504 | TGAGGCCT others(110): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 258 | 0.0039 | -117 | c.112 others(17): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48736355 | TCGCACTC others(110): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG01884.hp2 HG01943.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 a0001c0001t0002g0046 a0001c0001t0002g0048 others(4): Show |
7 | 258 | 0.0271 | -117 | c.391 others(19): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCERG1L_chr10_131087391_131316721 | 131228428 | GGAGTCTC others(110): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00735.hp2 others(40): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0043 others(40): Show |
43 | 324 | 0.1327 | -117 | c.856 others(19): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | |||||||
TESC_chr12_117033923_117104416 | 117075868 | TATGTGTG others(110): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0069 |
4 | 312 | 0.0128 | -117 | c.59- others(13): Show |
TESC | ENSG00000088992.18 | transcript | ENST00000335209.12 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
TMEM144_chr4_158205486_158260416 | 158257036 | TATATAGT others(110): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00642.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0026 others(41): Show |
51 | 274 | 0.1861 | -117 | c.*35 others(11): Show |
TMEM144 | ENSG00000164124.11 | transcript | ENST00000296529.11 | protein_coding | 1621 | chr4 | TogoVar | |||||||
TMEM255A_chrX_120253650_120316461 | 120296970 | TATTATAT others(110): Show |
T | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 303 | 0.0033 | -117 | c.202 others(17): Show |
TMEM255A | ENSG00000125355.16 | transcript | ENST00000371369.9 | protein_coding | 2/8 | chrX | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113804613 | GGTTAGCT others(110): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01169.hp1 others(38): Show |
a0001a0010 | a0001c0002a0001c0006a0001c0022others(1): Show | a0001c0002t0007a0001c0002t0008a0001c0002t0011others(26): Show | a0001c0002t0007g0114 a0001c0002t0007g0123 a0001c0002t0007g0171 others(37): Show |
41 | 260 | 0.1577 | -117 | c.670 others(15): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TRAPPC9_chr8_139722725_140462744 | 139747470 | AGGGGTCA others(110): Show |
A | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0010 | 1 | 98 | 0.0102 | -117 | c.305 others(21): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 21/22 | chr8 | TogoVar | |||||||
TRAPPC9_chr8_139722725_140462744 | 139748196 | GGGAGGTG others(110): Show |
G | intron_variant | MODIFIER | HG02895.hp1 NA21309.hp1 |
a0001a0007 | a0001c0005a0007c0017 | a0001c0005t0030a0007c0017t0001 | a0001c0005t0030g0063 a0007c0017t0001g0062 |
2 | 98 | 0.0204 | -117 | c.305 others(21): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 21/22 | chr8 | TogoVar | |||||||
TRIO_chr5_14138342_14515204 | 14455468 | GGTGCTGA others(110): Show |
G | intron_variant | MODIFIER | HG01884.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0007 a0001c0001t0012g0006 |
2 | 198 | 0.0101 | -117 | c.520 others(19): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 34/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TSPAN32_chr11_2297013_2323204 | 2300108 | GAGGGTGG others(110): Show |
G | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 412 | 0.0024 | -117 | c.-20 others(11): Show |
TSPAN32 | ENSG00000064201.16 | transcript | ENST00000182290.9 | protein_coding | 1904 | chr11 | TogoVar | |||||||
TYMS_chr18_652653_678578 | 667436 | TGATGGTG others(110): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0358 a0001c0001t0004g0359 a0001c0001t0004g0360 |
3 | 482 | 0.0062 | -117 | c.455 others(17): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667454 | TGATGATG others(110): Show |
T | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0266 | 1 | 482 | 0.0021 | -117 | c.455 others(17): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
UNC5A_chr5_176805559_176885898 | 176859526 | GTCCTTGC others(110): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG02818.hp1 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0235 a0001c0005t0002g0241 |
2 | 268 | 0.0075 | -117 | c.71- others(15): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
UNC5D_chr8_35230475_35801540 | 35465395 | GAATATTG others(110): Show |
G | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 64 | 0.0156 | -117 | c.104 others(19): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
USP7_chr16_8887097_8968906 | 8953626 | GTGCGGCG others(110): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(199): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0019 others(195): Show |
202 | 338 | 0.5976 | -117 | c.79+ others(15): Show |
USP7 | ENSG00000187555.17 | transcript | ENST00000344836.9 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
USP7_chr16_8887097_8968906 | 8953665 | GTGCGGCG others(110): Show |
G | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 | 1 | 338 | 0.0030 | -117 | c.79+ others(15): Show |
USP7 | ENSG00000187555.17 | transcript | ENST00000344836.9 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
USP7_chr16_8887097_8968906 | 8953704 | GTGCGGCG others(110): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02698.hp1 HG02818.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0203 a0001c0001t0001g0299 a0001c0001t0002g0069 others(15): Show |
18 | 338 | 0.0533 | -117 | c.79+ others(15): Show |
USP7 | ENSG00000187555.17 | transcript | ENST00000344836.9 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
USP7_chr16_8887097_8968906 | 8953716 | CGGAGGCA others(110): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0115 others(1): Show |
4 | 338 | 0.0118 | -117 | c.79+ others(15): Show |
USP7 | ENSG00000187555.17 | transcript | ENST00000344836.9 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
USP7_chr16_8887097_8968906 | 8953977 | CTGCGGCG others(110): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01433.hp2 HG02683.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 others(1): Show |
4 | 338 | 0.0118 | -117 | c.79+ others(15): Show |
USP7 | ENSG00000187555.17 | transcript | ENST00000344836.9 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
WFIKKN2_chr17_50830586_50847353 | 50836475 | CGGACCAG others(110): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG01081.hp2 others(14): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0001a0001c0005t0004a0001c0008t0001others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0005t0004g0013 others(5): Show |
17 | 418 | 0.0407 | -117 | c.210 others(15): Show |
WFIKKN2 | ENSG00000173714.8 | transcript | ENST00000311378.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ZBED6_chr1_203790623_203859124 | 203841860 | GGAGGGGC others(110): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0027 a0001c0001t0006g0031 |
2 | 384 | 0.0052 | -117 | c.*37 others(21): Show |
ZBED6 | ENSG00000257315.4 | transcript | ENST00000550078.3 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZC3H11A_chr1_203790623_203859124 | 203841860 | GGAGGGGC others(110): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG06807.hp2 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0169 a0001c0003t0006g0173 |
2 | 384 | 0.0052 | -117 | c.104 others(19): Show |
ZC3H11A | ENSG00000058673.17 | transcript | ENST00000367210.3 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF200_chr16_3217325_3240158 | 3235608 | CGCCCTAC others(110): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02818.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0008a0001c0005t0001 | a0001c0001t0008g0046 a0001c0005t0001g0047 |
2 | 390 | 0.0051 | -117 | c.-82 others(9): Show |
ZNF200 | ENSG00000010539.12 | transcript | ENST00000414144.7 | protein_coding | 451 | chr16 | TogoVar | |||||||
ZNF383_chr19_37213214_37253740 | 37253419 | GTGGTGGC others(110): Show |
G | downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0070 | 1 | 404 | 0.0025 | -117 | c.*97 others(11): Show |
ZNF383 | ENSG00000188283.12 | transcript | ENST00000684119.1 | protein_coding | 4680 | chr19 | TogoVar | |||||||
ZNF618_chr9_113871309_114061593 | 113900688 | GCTGTCTC others(110): Show |
G | intron_variant | MODIFIER | NA18963.hp1 NA19000.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0018 | a0001c0001t0001g0194 a0001c0010t0018g0231 |
2 | 264 | 0.0076 | -117 | c.33+ others(17): Show |
ZNF618 | ENSG00000157657.15 | transcript | ENST00000374126.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ZNF618_chr9_113871309_114061593 | 113900833 | AAACCCGA others(110): Show |
A | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 264 | 0.0038 | -117 | c.33+ others(17): Show |
ZNF618 | ENSG00000157657.15 | transcript | ENST00000374126.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |