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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LPCAT1_chr5_1456427_1528960 | 1459008 | GAGCCTCA others(75): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(235): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(38): Show | a0001c0001t0002g0040 a0001c0001t0002g0109 a0001c0001t0002g0113 others(223): Show |
238 | 384 | 0.6198 | -82 | c.*45 others(93): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 2418 | chr5 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1459519 | CATGTGAG others(75): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0237 | 1 | 384 | 0.0026 | -82 | c.*40 others(93): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 1907 | chr5 | TogoVar | |||||||
LRRFIP1_chr2_237622587_237786643 | 237660428 | ACAGAGTA others(75): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 274 | 0.0036 | -82 | c.96+ others(99): Show |
LRRFIP1 | ENSG00000124831.20 | transcript | ENST00000308482.14 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LRRK2_chr12_40219997_40374285 | 40247505 | CATGTATA others(75): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01884.hp1 others(4): Show |
a0001a0003a0025 | a0001c0002a0003c0011a0003c0014others(2): Show | a0001c0002t0011a0003c0011t0004a0003c0014t0001others(2): Show | a0001c0002t0011g0315 a0003c0011t0004g0343 a0003c0011t0004g0367 others(4): Show |
7 | 218 | 0.0321 | -82 | c.839 others(99): Show |
LRRK2 | ENSG00000188906.17 | transcript | ENST00000298910.12 | protein_coding | 7/50 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LRRTM4_chr2_76742685_77527376 | 76807389 | TATATATA others(75): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 128 | 0.0078 | -82 | c.155 others(103): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
LTBP2_chr14_74493183_74617237 | 74584001 | AGCGCCAA others(75): Show |
A | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0156 | 1 | 280 | 0.0036 | -82 | c.830 others(99): Show |
LTBP2 | ENSG00000119681.12 | transcript | ENST00000261978.9 | protein_coding | 3/35 | chr14 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186798 | GGGGAACA others(75): Show |
G | downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 332 | 0.0030 | -82 | c.*23 others(93): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2191 | chr16 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1929834 | CCACTGCC others(75): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0077 | 1 | 246 | 0.0041 | -82 | c.180 others(101): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1930107 | CCACTGCC others(75): Show |
C | intron_variant | MODIFIER | HG03516.hp2 NA19043.hp1 |
a0001 | a0001c0006a0001c0011 | a0001c0006t0001a0001c0011t0001 | a0001c0006t0001g0237 a0001c0011t0001g0244 |
2 | 257 | 0.0078 | -82 | c.180 others(101): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1930252 | CGTCCCCT others(75): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0077 | 1 | 262 | 0.0038 | -82 | c.180 others(101): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 2058325 | CGCGGGGC others(75): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(58): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(6): Show | a0001c0001t0001g0085 a0001c0001t0001g0181 a0001c0001t0005g0222 others(58): Show |
61 | 262 | 0.2328 | -82 | c.121 others(103): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 12/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 2171471 | AAAGGACA others(75): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01891.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0081 a0001c0001t0001g0165 a0001c0001t0001g0223 others(20): Show |
23 | 262 | 0.0878 | -82 | c.987 others(101): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 10/18 | chr7 | TogoVar | |||||||
MAFA_chr8_143423064_143435732 | 143425223 | GGGGGGTC others(75): Show |
G | downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 444 | 0.0023 | -82 | c.*40 others(93): Show |
MAFA | ENSG00000182759.4 | transcript | ENST00000333480.3 | protein_coding | 2840 | chr8 | TogoVar | |||||||
MAPK9_chr5_180228143_180297083 | 180296873 | ACACACAC others(75): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01928.hp2 HG01975.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0023 a0001c0001t0004g0277 a0001c0001t0006g0015 others(6): Show |
9 | 370 | 0.0243 | -82 | c.-51 others(93): Show |
MAPK9 | ENSG00000050748.18 | transcript | ENST00000452135.7 | protein_coding | 4791 | chr5 | TogoVar | |||||||
MARCO_chr2_118937194_118999660 | 118986637 | GAAAGAAA others(75): Show |
G | intron_variant | MODIFIER | HG02004.hp1 HG02080.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0053 a0001c0001t0001g0057 |
3 | 392 | 0.0077 | -82 | c.106 others(101): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAST2_chr1_45798612_46041122 | 45906476 | AGTTAAAA others(75): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02886.hp2 NA18906.hp1 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0120 a0002c0007t0001g0134 a0002c0007t0001g0135 |
3 | 286 | 0.0105 | -82 | c.500 others(101): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113012791 | TGATGCGG others(75): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02486.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0004a0001c0010 | a0001c0001t0024a0001c0004t0001a0001c0010t0022 | a0001c0001t0024g0019 a0001c0004t0001g0102 a0001c0010t0022g0016 |
3 | 114 | 0.0263 | -82 | c.80- others(97): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94243008 | TACACGTG others(75): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG02723.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0044 | a0001c0001t0001g0039 a0001c0002t0044g0272 |
2 | 273 | 0.0073 | -82 | c.-66 others(101): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | chr15 | TogoVar | |||||||
MED16_chr19_862963_898187 | 873248 | GGGACTCC others(75): Show |
G | intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 | 1 | 54 | 0.0185 | -82 | c.190 others(99): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | TogoVar | |||||||
MEF2A_chr15_99560984_99721488 | 99602673 | TGTGTGTG others(75): Show |
T | intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0318 | 1 | 374 | 0.0027 | -82 | c.-14 others(101): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MGRN1_chr16_4619826_4695972 | 4655458 | AATCACAG others(75): Show |
A | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 332 | 0.0030 | -82 | c.444 others(99): Show |
MGRN1 | ENSG00000102858.13 | transcript | ENST00000262370.12 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MIA2_chr14_39228915_39355694 | 39277672 | TTATATAT others(75): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02738.hp2 |
a0002a0006 | a0002c0001a0006c0005 | a0002c0001t0002a0006c0005t0002 | a0002c0001t0002g0008 a0006c0005t0002g0237 |
2 | 247 | 0.0081 | -82 | c.201 others(99): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MLXIP_chr12_122073756_122152344 | 122124326 | CCCCACCC others(75): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01934.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0015 | a0001c0001t0001g0111 a0001c0001t0001g0145 a0001c0001t0001g0146 others(2): Show |
5 | 352 | 0.0142 | -82 | c.414 others(99): Show |
MLXIP | ENSG00000175727.15 | transcript | ENST00000319080.12 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MMP21_chr10_125761453_125780821 | 125780548 | ATGTTCAC others(75): Show |
A | upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 450 | 0.0022 | -82 | c.-48 others(93): Show |
MMP21 | ENSG00000154485.5 | transcript | ENST00000368808.3 | protein_coding | 4728 | chr10 | TogoVar | |||||||
MOBP_chr3_39462680_39508027 | 39469000 | ATATATAC others(75): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 396 | 0.0025 | -82 | c.-89 others(99): Show |
MOBP | ENSG00000168314.19 | transcript | ENST00000684792.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MOK_chr14_102223836_102310164 | 102298335 | TACTCTGT others(75): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 250 | 0.0040 | -82 | c.7+6 others(95): Show |
MOK | ENSG00000080823.23 | transcript | ENST00000361847.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
MRM3_chr17_777353_797509 | 790651 | CCTGTGCC others(75): Show |
C | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 438 | 0.0023 | -82 | c.728 others(97): Show |
MRM3 | ENSG00000171861.11 | transcript | ENST00000304478.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29375527 | ATATATAT others(75): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0027 | 1 | 82 | 0.0122 | -82 | c.311 others(103): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MUC22_chr6_31005474_31040402 | 31021367 | GCACTCTG others(75): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0045 | a0045c0049 | a0045c0049t0001 | a0045c0049t0001g0174 | 1 | 460 | 0.0022 | -82 | c.71- others(97): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MUC22_chr6_31005474_31040402 | 31021527 | GCACTCTG others(75): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG02056.hp2 HG02080.hp1 others(10): Show |
a0006a0011a0045others(1): Show | a0006c0006a0011c0014a0011c0042others(2): Show | a0006c0006t0001a0011c0014t0001a0011c0042t0001others(2): Show | a0006c0006t0001g0182 a0011c0014t0001g0007 a0011c0042t0001g0007 others(2): Show |
13 | 460 | 0.0283 | -82 | c.71- others(97): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195767686 | GGCCACCC others(75): Show |
G | intron_variant | MODIFIER | HG02027.hp2 HG02074.hp1 NA18947.hp1 others(16): Show |
a0002a0014 | a0002c0002a0002c0124a0014c0023 | a0002c0002t0002a0002c0124t0002a0014c0023t0002 | a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0004 others(14): Show |
19 | 245 | 0.0776 | -82 | c.135 others(102): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | |||||||
MX2_chr21_41357027_41414393 | 41401131 | TACAATTT others(75): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0012 | a0012c0023 | a0012c0023t0015 | a0012c0023t0015g0239 | 1 | 372 | 0.0027 | -82 | c.141 others(99): Show |
MX2 | ENSG00000183486.14 | transcript | ENST00000330714.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57687858 | TATATAAT others(75): Show |
T | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019 | 1 | 338 | 0.0030 | -82 | c.*33 others(93): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2495 | chr15 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504103 | CCAGTGCC others(75): Show |
C | upstream_gene_variant | MODIFIER | HG02165.hp1 NA19005.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0005a0001c0015t0005 | a0001c0001t0005g0205 a0001c0015t0005g0206 |
2 | 382 | 0.0052 | -82 | c.-42 others(93): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4120 | chr22 | TogoVar | |||||||
NEDD4L_chr18_58039226_58406539 | 58170643 | AGGACAGA others(75): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG02040.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0111 a0001c0001t0002g0035 a0001c0001t0002g0075 others(8): Show |
11 | 114 | 0.0965 | -82 | c.122 others(99): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NEDD4L_chr18_58039226_58406539 | 58170971 | AGGACAGA others(75): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0018 | 1 | 110 | 0.0091 | -82 | c.122 others(99): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NEDD4L_chr18_58039226_58406539 | 58171053 | GGGACAGA others(75): Show |
G | intron_variant | MODIFIER | NA18612.hp1 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0002g0043 |
2 | 87 | 0.0230 | -82 | c.122 others(99): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NEDD4L_chr18_58039226_58406539 | 58171306 | AACACTGC others(75): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01496.hp1 HG01943.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0064 others(4): Show |
7 | 113 | 0.0619 | -82 | c.122 others(99): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241807649 | CTCCCTCC others(75): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02155.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0155 a0001c0004t0001g0108 |
2 | 305 | 0.0066 | -82 | c.-16 others(93): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1543 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807837 | CGCAGGCC others(75): Show |
C | upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 214 | 0.0047 | -82 | c.-14 others(93): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1355 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807930 | CTCCCTCC others(75): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00741.hp2 HG01981.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0001a0002c0003t0002 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0128 others(5): Show |
8 | 310 | 0.0258 | -82 | c.-13 others(93): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1262 | chr2 | TogoVar | |||||||
NFKBIB_chr19_38894969_38913889 | 38902484 | TGCTTTTG others(75): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(134): Show |
357 | 452 | 0.7898 | -82 | c.179 others(99): Show |
NFKBIB | ENSG00000104825.17 | transcript | ENST00000313582.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NGB_chr14_77260483_77276206 | 77269721 | TCTCTCTT others(75): Show |
T | intron_variant | MODIFIER | HG01258.hp1 HG01261.hp2 HG02155.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(2): Show |
10 | 304 | 0.0329 | -82 | c.90- others(95): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
NHSL1_chr6_138417043_138504494 | 138500665 | AGGGAAAG others(75): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 HG03098.hp1 |
a0003 | a0003c0006 | a0003c0006t0006 | a0003c0006t0006g0190 a0003c0006t0006g0206 |
2 | 311 | 0.0064 | -82 | c.-14 others(93): Show |
NHSL1 | ENSG00000135540.12 | transcript | ENST00000343505.10 | protein_coding | 1172 | chr6 | TogoVar | |||||||
NKD2_chr5_1003802_1043943 | 1022342 | TGTCTCAG others(75): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(54): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0022 others(45): Show |
57 | 192 | 0.2969 | -82 | c.142 others(99): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1022459 | TGTGGGTG others(75): Show |
T | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 317 | 0.0032 | -82 | c.142 others(99): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
NKD2_chr5_1003802_1043943 | 1022748 | TGTGGGTG others(75): Show |
T | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0265 | 1 | 315 | 0.0032 | -82 | c.142 others(99): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
NKD2_chr5_1003802_1043943 | 1022890 | TTTGTCCC others(75): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG02004.hp1 NA18962.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0008g0093 others(2): Show |
5 | 182 | 0.0275 | -82 | c.142 others(99): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1023259 | GTTGTCCC others(75): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01261.hp2 HG01978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0196 a0001c0001t0001g0197 others(1): Show |
4 | 145 | 0.0276 | -82 | c.142 others(99): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1023429 | CCTGCTCT others(75): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG02071.hp1 |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0001a0006c0013t0017 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0006c0013t0017g0097 |
3 | 318 | 0.0094 | -82 | c.142 others(99): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |