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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLM1_chr9_86021146_86104558 | 86053681 | T | TCCACACA others(198): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02723.hp1 HG02886.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0204a0001c0004t0001g0202a0001c0004t0001g0203 | 3 | 314 | 0.0096 | 205 | c.310 others(222): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218250 | A | ACCCACCA others(198): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 106 | 0.0094 | 205 | c.*27 others(216): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1081 | chr8 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626003 | T | TGGGGGTC others(198): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0077 | 1 | 400 | 0.0025 | 205 | c.-5+ others(218): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GRAMD1B_chr11_123425269_123632767 | 123457117 | A | AGAAAGAA others(198): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0062 | a0001c0002t0062g0114 | 1 | 282 | 0.0036 | 205 | c.375 others(224): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169680 | T | TGTATATT others(198): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0143 | 1 | 384 | 0.0026 | 205 | c.-34 others(220): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
HNRNPU_chr1_244845297_244869543 | 244863395 | G | GACACACA others(198): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 346 | 0.0029 | 205 | c.691 others(220): Show |
HNRNPU | ENSG00000153187.21 | transcript | ENST00000640218.2 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29507379 | C | CCCCTTCT others(198): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008 | a0001c0001t0002g0057a0001c0001t0004g0079a0001c0001t0008g0059 | 3 | 135 | 0.0222 | 205 | c.703 others(226): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1360948 | T | TCTCTCTC others(198): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 115 | 0.0087 | 205 | c.759 others(222): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132159926 | G | GGTCTCTC others(198): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00639.hp2 |
a0003a0004 | a0003c0002a0004c0036 | a0003c0002t0001a0004c0036t0001 | a0003c0002t0001g0001a0003c0002t0001g0034a0004c0036t0001g0039 | 3 | 158 | 0.0190 | 205 | c.222 others(224): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KLHDC4_chr16_87702812_87770986 | 87726258 | G | GCCCCGTC others(198): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 380 | 0.0026 | 205 | c.759 others(220): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 7/11 | chr16 | TogoVar | ||||||
LRRC24_chr8_144517388_144532033 | 144531241 | A | AGCGAGCA others(198): Show |
upstream_gene_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 398 | 0.0025 | 205 | c.-43 others(216): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4209 | chr8 | TogoVar | ||||||
LYAR_chr4_4262701_4295154 | 4263813 | A | ACTAACTT others(198): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0097 | 1 | 436 | 0.0023 | 205 | c.*40 others(216): Show |
LYAR | ENSG00000145220.14 | transcript | ENST00000343470.9 | protein_coding | 3887 | chr4 | TogoVar | ||||||
MAN1B1_chr9_137081985_137114183 | 137114078 | G | GCGTGCCC others(198): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0116 | 1 | 404 | 0.0025 | 205 | c.*54 others(216): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 4896 | chr9 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19477854 | A | AGGGGGGA others(198): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0017 | a0017c0024 | a0017c0024t0006 | a0017c0024t0006g0160 | 1 | 163 | 0.0061 | 205 | c.525 others(222): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19477854 | A | AGGGGGGA others(198): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 163 | 0.0061 | 205 | c.525 others(222): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19477854 | A | AGGGGGGA others(198): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 163 | 0.0061 | 205 | c.525 others(222): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19478003 | G | GTGAGAGG others(198): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 163 | 0.0061 | 205 | c.525 others(222): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113011687 | G | GGTGTGGA others(198): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 116 | 0.0086 | 205 | c.80- others(220): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MINAR1_chr15_79427336_79477304 | 79438239 | G | GGGTGGGT others(198): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0244 | 1 | 390 | 0.0026 | 205 | c.-51 others(222): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | chr15 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237542803 | G | GGGCACGG others(198): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 286 | 0.0035 | 205 | c.153 others(222): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237542803 | G | GGGCACGG others(198): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18964.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041a0002c0002t0001g0066 | 2 | 286 | 0.0070 | 205 | c.153 others(222): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237544127 | G | GGGGGGAC others(198): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0066 | 1 | 286 | 0.0035 | 205 | c.153 others(224): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43432643 | G | GGAGAGAG others(198): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01099.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0152others(7): Show | 10 | 250 | 0.0400 | 205 | c.225 others(222): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43432643 | G | GGGAGGAG others(198): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0084 | 1 | 250 | 0.0040 | 205 | c.225 others(222): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43432643 | G | GGGAGGAG others(198): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01515.hp1 HG03688.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0183a0001c0002t0003g0184a0001c0002t0003g0249 | 3 | 250 | 0.0120 | 205 | c.225 others(222): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43432644 | G | GAGAGAGA others(198): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18968.hp2 NA18984.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0004t0001 | a0001c0001t0002g0216a0001c0001t0004g0217a0001c0004t0001g0114 | 3 | 250 | 0.0120 | 205 | c.225 others(222): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432680 | A | AGAGAGAT others(198): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0233 | 1 | 250 | 0.0040 | 205 | c.225 others(222): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43432876 | A | AAAGGGAG others(198): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0198 | 1 | 250 | 0.0040 | 205 | c.225 others(222): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767614 | T | TGGAGGAG others(198): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0254 | 1 | 388 | 0.0026 | 205 | c.159 others(222): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767748 | G | GGGGGCGC others(198): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 388 | 0.0026 | 205 | c.159 others(222): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767853 | G | GAGGCGCG others(198): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0258 | 1 | 388 | 0.0026 | 205 | c.159 others(222): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 769181 | G | GGCCCCAG others(198): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0294 | 1 | 388 | 0.0026 | 205 | c.*44 others(214): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 320 | chr16 | TogoVar | ||||||
MTERF3_chr8_96234402_96266610 | 96250678 | A | AAAGAAGA others(198): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 294 | 0.0034 | 205 | c.677 others(220): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 109023305 | T | TATATATA others(198): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03579.hp2 |
a0001a0006 | a0001c0061a0006c0033 | a0001c0061t0001a0006c0033t0003 | a0001c0061t0001g0031a0006c0033t0003g0014 | 2 | 152 | 0.0132 | 205 | c.279 others(224): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109023305 | T | TATATATA others(198): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02717.hp2 |
a0001a0008 | a0001c0002a0008c0023 | a0001c0002t0004a0008c0023t0001 | a0001c0002t0004g0048a0008c0023t0001g0103 | 2 | 152 | 0.0132 | 205 | c.279 others(224): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYT1L_chr2_1784113_2336275 | 1952726 | C | CCCTCCCT others(198): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02559.hp2 HG02615.hp2 others(6): Show |
a0001 | a0001c0003a0001c0005a0001c0012others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(6): Show | a0001c0003t0001g0067a0001c0003t0002g0017a0001c0003t0003g0077others(6): Show | 9 | 104 | 0.0865 | 205 | c.153 others(222): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 8/24 | chr2 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64178470 | G | GCAGAGCC others(198): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(147): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0006a0001c0001t0001g0048a0001c0001t0001g0049others(146): Show | 150 | 223 | 0.6727 | 205 | c.-98 others(224): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64178485 | A | AGTGGGAT others(198): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03942.hp1 HG04199.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0003a0001c0005t0023 | a0001c0005t0001g0027a0001c0005t0001g0028a0001c0005t0003g0025others(1): Show | 4 | 223 | 0.0179 | 205 | c.-98 others(224): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64178485 | A | AGTGGGAT others(198): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0121 | 1 | 223 | 0.0045 | 205 | c.-98 others(224): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64178485 | A | AGTGGGAT others(198): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01074.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0129a0001c0001t0001g0158a0001c0001t0001g0191others(20): Show | 23 | 223 | 0.1031 | 205 | c.-98 others(224): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64178500 | A | AACGTGGG others(198): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18612.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0013a0001c0006t0015 | a0001c0001t0001g0023a0001c0001t0013g0022a0001c0006t0015g0024 | 3 | 223 | 0.0135 | 205 | c.-98 others(224): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64178500 | A | AACGTGGG others(198): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02622.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0008a0001c0001t0010others(3): Show | a0001c0001t0003g0014a0001c0001t0003g0015a0001c0001t0003g0021others(5): Show | 8 | 223 | 0.0359 | 205 | c.-98 others(224): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NACAD_chr7_45075437_45093969 | 45079309 | A | AGGGGACA others(198): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 HG02976.hp2 NA18906.hp2 |
a0007a0028 | a0007c0007a0028c0078 | a0007c0007t0001a0028c0078t0001 | a0007c0007t0001g0025a0028c0078t0001g0077 | 3 | 410 | 0.0073 | 205 | c.*11 others(216): Show |
NACAD | ENSG00000136274.9 | transcript | ENST00000490531.3 | protein_coding | 1127 | chr7 | TogoVar | ||||||
NALCN_chr13_101048776_101421508 | 101391820 | T | TAAAAAAT others(198): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 176 | 0.0057 | 205 | c.291 others(222): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 3/43 | chr13 | TogoVar | ||||||
NBAS_chr2_15161916_15566334 | 15541919 | C | CCTGCCCG others(198): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01934.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0166a0002c0002t0001g0167a0002c0002t0001g0186others(3): Show | 6 | 224 | 0.0268 | 205 | c.380 others(222): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 6/51 | chr2 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158667406 | T | TCCCTTAC others(198): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 378 | 0.0027 | 205 | c.148 others(224): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158667664 | T | TCCTTACC others(198): Show |
intron_variant | MODIFIER | NA18980.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223a0001c0001t0001g0268 | 2 | 378 | 0.0053 | 205 | c.148 others(224): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158668244 | C | CCCTTACC others(198): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0207 | 1 | 378 | 0.0027 | 205 | c.147 others(224): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
NEDD4L_chr18_58039226_58406539 | 58170807 | A | AGGACAGA others(198): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0078a0001c0001t0004g0072 | 2 | 118 | 0.0170 | 205 | c.122 others(222): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NEDD4L_chr18_58039226_58406539 | 58170848 | A | AGGACAGA others(198): Show |
intron_variant | MODIFIER | HG02056.hp1 NA19060.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0029a0001c0005t0046 | a0001c0001t0029g0016a0001c0005t0046g0071 | 2 | 118 | 0.0170 | 205 | c.122 others(222): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |