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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(464): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 HG01993.hp2 HG02698.hp2 others(3): Show |
a0002a0005 | a0002c0001a0005c0008 | a0002c0001t0002a0005c0008t0002 | a0002c0001t0002g0004 a0002c0001t0002g0007 a0005c0008t0002g0010 |
6 | 354 | 0.0170 | 471 | c.*69 others(482): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
CFAP276_chr1_109100951_109117747 | 109108012 | T | TGTGTTGG others(464): Show |
stop_gained others(1): Show |
HIGH | HG01243.hp1 HG02559.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0046 a0004c0006t0001g0055 |
2 | 404 | 0.0050 | 471 | c.106 others(478): Show |
p.Thr others(482): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 2/5 | 174/655 | 106/510 | 36/169 | chr1 | TogoVar | |||
COL6A1_chr21_45976770_46010048 | 45988422 | G | GGTCCAGA others(464): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0019 | 1 | 128 | 0.0078 | 471 | c.805 others(486): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(464): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0007 | a0007c0116 | a0007c0116t0004 | a0007c0116t0004g0039 | 1 | 126 | 0.0079 | 471 | c.416 others(492): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(464): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG01070.hp1 others(13): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0262 others(13): Show |
16 | 336 | 0.0476 | 471 | c.348 others(488): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 477392 | A | AGGGAGGG others(464): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0001 | 1 | 88 | 0.0114 | 471 | c.158 others(488): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DNM2_chr19_10713079_10836903 | 10758435 | C | CTCCTTCC others(464): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 278 | 0.0036 | 471 | c.162 others(488): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DNM2_chr19_10713079_10836903 | 10758443 | T | TTCCTTCC others(464): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0276 | 1 | 278 | 0.0036 | 471 | c.162 others(488): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DNM2_chr19_10713079_10836903 | 10758443 | T | TTCCTTCC others(464): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0149 | 1 | 278 | 0.0036 | 471 | c.162 others(488): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400090 | A | ACCACCTC others(464): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0015 | a0015c0058 | a0015c0058t0001 | a0015c0058t0001g0021 | 1 | 256 | 0.0039 | 471 | c.323 others(488): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927877 | C | CGGTGGTG others(464): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0116 | 1 | 288 | 0.0035 | 471 | c.190 others(490): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXOC3L4_chr14_103089725_103115559 | 103109689 | C | CCTCCCTC others(464): Show |
intron_variant | MODIFIER | NA18973.hp1 NA18979.hp1 |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0279 a0002c0005t0002g0314 |
2 | 404 | 0.0050 | 471 | c.197 others(488): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FAM174B_chr15_92612448_92660775 | 92631012 | A | ATATATTA others(464): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 394 | 0.0025 | 471 | c.345 others(486): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77248111 | T | TGTGGGTT others(464): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 HG02809.hp1 HG03130.hp1 |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0131a0002c0006t0046 | a0001c0002t0131g0247 a0002c0006t0046g0248 a0002c0006t0046g0249 |
3 | 366 | 0.0082 | 471 | c.-24 others(482): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1736 | chr18 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252950 | T | TCACCACC others(464): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0114 | a0001c0001t0114g0057 | 1 | 366 | 0.0027 | 471 | c.666 others(488): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308398 | T | TCACCACC others(464): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 422 | 0.0024 | 471 | c.961 others(488): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GPBP1_chr5_57169059_57269673 | 57249839 | T | TCCCGTCC others(464): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02257.hp2 |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0003a0009c0011t0003 | a0001c0001t0003g0215 a0001c0001t0003g0226 a0009c0011t0003g0214 |
3 | 290 | 0.0103 | 471 | c.972 others(486): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGCGCC others(464): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0032 | a0032c0149 | a0032c0149t0002 | a0032c0149t0002g0065 | 1 | 408 | 0.0025 | 471 | c.633 others(486): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGCGCC others(464): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0109 | a0001c0109t0011 | a0001c0109t0011g0380 | 1 | 408 | 0.0025 | 471 | c.633 others(486): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGCGCC others(464): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01891.hp2 HG02129.hp1 others(21): Show |
a0001a0002a0004others(2): Show | a0001c0007a0001c0008a0001c0014others(15): Show | a0001c0007t0002a0001c0007t0006a0001c0008t0002others(20): Show | a0001c0007t0002g0027 a0001c0007t0006g0249 a0001c0008t0002g0379 others(21): Show |
24 | 408 | 0.0588 | 471 | c.633 others(486): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGCGCC others(464): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01257.hp1 HG01258.hp1 others(2): Show |
a0001a0003a0006 | a0001c0001a0001c0021a0003c0058others(1): Show | a0001c0001t0001a0001c0021t0001a0003c0058t0005others(1): Show | a0001c0001t0001g0178 a0001c0021t0001g0242 a0003c0058t0005g0349 others(1): Show |
5 | 408 | 0.0123 | 471 | c.633 others(486): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGCGCC others(464): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03041.hp2 HG03139.hp1 others(1): Show |
a0001a0002 | a0001c0018a0001c0030a0001c0100others(1): Show | a0001c0018t0001a0001c0030t0004a0001c0100t0004others(1): Show | a0001c0018t0001g0383 a0001c0030t0004g0374 a0001c0100t0004g0028 others(1): Show |
4 | 408 | 0.0098 | 471 | c.633 others(486): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGCGCC others(464): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00673.hp1 others(42): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0007others(22): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0003others(27): Show | a0001c0001t0002g0016 a0001c0001t0002g0077 a0001c0001t0004g0068 others(41): Show |
45 | 408 | 0.1103 | 471 | c.633 others(486): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGCGCC others(464): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0055 a0001c0001t0004g0387 |
2 | 408 | 0.0049 | 471 | c.633 others(486): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGCGCC others(464): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0244 | 1 | 408 | 0.0025 | 471 | c.633 others(486): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGCGCC others(464): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0025 | a0001c0025t0002 | a0001c0025t0002g0038 | 1 | 408 | 0.0025 | 471 | c.633 others(486): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGCGCC others(464): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(114): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0007others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(64): Show | a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0134 others(112): Show |
117 | 408 | 0.2868 | 471 | c.633 others(486): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGCGCC others(464): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0093 | 1 | 408 | 0.0025 | 471 | c.633 others(486): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGCGCC others(464): Show |
intron_variant | MODIFIER | NA18962.hp1 NA19056.hp1 |
a0001a0003 | a0001c0001a0003c0034 | a0001c0001t0001a0003c0034t0003 | a0001c0001t0001g0226 a0003c0034t0003g0225 |
2 | 408 | 0.0049 | 471 | c.633 others(486): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGTGCC others(464): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0231 | 1 | 408 | 0.0025 | 471 | c.633 others(486): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGTGCC others(464): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(84): Show |
a0001a0002a0003others(10): Show | a0001c0003a0001c0005a0001c0017others(33): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(49): Show | a0001c0003t0001g0018 a0001c0003t0001g0087 a0001c0003t0001g0090 others(83): Show |
87 | 408 | 0.2132 | 471 | c.633 others(486): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGTGCC others(464): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0201 | 1 | 408 | 0.0025 | 471 | c.633 others(486): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602946 | G | GCCTGGGG others(464): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0037 | a0002c0037t0001 | a0002c0037t0001g0330 | 1 | 408 | 0.0025 | 471 | c.633 others(486): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41544953 | T | TCTACCAC others(464): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0041 | a0005c0041t0059 | a0005c0041t0059g0080 | 1 | 134 | 0.0075 | 471 | c.520 others(492): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
INO80_chr15_40973880_41121280 | 41031545 | A | AGGAAGGG others(464): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0003 | 1 | 282 | 0.0036 | 471 | c.290 others(490): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
INO80_chr15_40973880_41121280 | 41031545 | A | AGGAAGGG others(464): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 a0001c0001t0003g0043 |
2 | 282 | 0.0071 | 471 | c.290 others(490): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163304 | C | CCCCTCCA others(464): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0042 | a0001c0042t0056 | a0001c0042t0056g0072 | 1 | 282 | 0.0036 | 471 | c.258 others(488): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173135 | T | TCCCCCTC others(464): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0137 | 1 | 158 | 0.0063 | 471 | c.*11 others(492): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1969684 | T | TAAATATA others(464): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 389 | 0.0026 | 471 | c.-51 others(482): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 3992 | chr8 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240786702 | G | GCATCAGG others(464): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0088 | 1 | 330 | 0.0030 | 471 | c.430 others(486): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471609 | A | ATTTATAT others(464): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 260 | 0.0039 | 471 | c.125 others(488): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 857682 | G | GCAGTGGT others(464): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0172 | 1 | 294 | 0.0034 | 471 | c.153 others(490): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 857706 | C | CAGTGGTG others(464): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 294 | 0.0034 | 471 | c.153 others(490): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCGGTG others(464): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0266 | 1 | 414 | 0.0024 | 471 | c.171 others(488): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
LSM7_chr19_2316521_2333586 | 2333198 | T | TGCTGGGA others(464): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 436 | 0.0023 | 471 | c.-46 others(482): Show |
LSM7 | ENSG00000130332.15 | transcript | ENST00000252622.15 | protein_coding | 4613 | chr19 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186475 | G | GGGAGGAA others(464): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 350 | 0.0029 | 471 | c.*27 others(482): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2514 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186952 | G | GGAGGAAC others(464): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 350 | 0.0029 | 471 | c.*22 others(482): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2037 | chr16 | TogoVar | |||||||
MMD2_chr7_4900998_4964187 | 4960054 | G | GTGGGAAG others(464): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0242 a0001c0002t0001g0243 others(1): Show |
4 | 382 | 0.0105 | 471 | c.-10 others(482): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 868 | chr7 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64177565 | C | CGGGGGCG others(464): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01496.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0016a0001c0002t0002others(2): Show | a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0016g0039 others(6): Show |
9 | 223 | 0.0404 | 471 | c.-98 others(490): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | chr20 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCGGTG others(464): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 384 | 0.0026 | 471 | c.-41 others(482): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar |