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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLGA3_chr12_132763914_132833869 | 132817250 | CCTCCACA others(90): Show |
C | intron_variant | MODIFIER | HG02027.hp1 NA18942.hp2 NA18967.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0005 | a0001c0001t0001g0143 a0004c0005t0005g0118 a0004c0005t0005g0155 |
3 | 306 | 0.0098 | -97 | c.134 others(112): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | |||||||
GOLGA8J_chr15_30077955_30101690 | 30090166 | GTCTCCAG others(90): Show |
G | frameshift_variant others(3): Show |
HIGH | NA19043.hp1 | a0053 | a0053c0047 | a0053c0047t0012 | a0053c0047t0012g0163 | 1 | 344 | 0.0029 | -97 | c.113 others(109): Show |
p.Asn others(5): Show |
GOLGA8J | ENSG00000179938.13 | transcript | ENST00000567927.2 | protein_coding | 13/19 | 1132/1899 | 378/632 | chr15 | TogoVar | ||||
GPHN_chr14_66503147_67186803 | 66545488 | GGGGCGGC others(90): Show |
G | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 232 | 0.0043 | -97 | c.64+ others(114): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66545515 | CCCCCCCA others(90): Show |
C | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 232 | 0.0043 | -97 | c.64+ others(114): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GRAMD1C_chr3_113833788_113952174 | 113849964 | GCGGGGGG others(90): Show |
G | intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 280 | 0.0036 | -97 | c.174 others(114): Show |
GRAMD1C | ENSG00000178075.20 | transcript | ENST00000358160.9 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRIN2A_chr16_9748408_10187428 | 9848683 | TTTTAAAT others(90): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0050a0001c0007t0051 | a0001c0002t0050g0120 a0001c0007t0051g0114 |
2 | 97 | 0.0206 | -97 | c.132 others(115): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 5/12 | chr16 | TogoVar | |||||||
GRIN2B_chr12_13532337_13986602 | 13788675 | AACCCTTA others(90): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(89): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0024others(77): Show | a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0063 others(89): Show |
92 | 192 | 0.4792 | -97 | c.412 others(116): Show |
GRIN2B | ENSG00000273079.7 | transcript | ENST00000609686.4 | protein_coding | 3/13 | chr12 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27805202 | GGGGGTGG others(90): Show |
G | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0139 | 1 | 238 | 0.0042 | -97 | c.898 others(114): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27805493 | TGGGGTGG others(90): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(113): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0023 others(113): Show |
116 | 219 | 0.5297 | -97 | c.898 others(114): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 312225 | CTGGGGCA others(90): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0018 | a0018c0030 | a0018c0030t0004 | a0018c0030t0004g0143 | 1 | 151 | 0.0066 | -97 | c.916 others(112): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 6/9 | chrX | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239068881 | GCCAGCAA others(90): Show |
G | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0004 | a0001c0004t0071 | a0001c0004t0071g0024 | 1 | 240 | 0.0042 | -97 | c.275 others(114): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 22/26 | chr2 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35631826 | TATATAAA others(90): Show |
T | downstream_gene_variant | MODIFIER | HG06807.hp2 NA18942.hp1 NA18944.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 a0001c0001t0004g0202 a0001c0001t0004g0204 others(6): Show |
14 | 389 | 0.0360 | -97 | c.*17 others(108): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 832 | chr7 | TogoVar | |||||||
HHIP_chr4_144641156_144750271 | 144742901 | TTTTATAT others(90): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02056.hp2 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0243 a0001c0001t0002g0261 |
2 | 308 | 0.0065 | -97 | c.*49 others(108): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 13/13 | 4945 | chr4 | TogoVar | ||||||
IL17D_chr13_20698699_20728098 | 20718475 | CGCTCACA others(90): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 344 | 0.0029 | -97 | c.291 others(114): Show |
IL17D | ENSG00000172458.5 | transcript | ENST00000682841.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1366567 | GCCGGGTG others(90): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0100 |
2 | 113 | 0.0177 | -97 | c.874 others(114): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
INPP4B_chr4_142018160_142851301 | 142053969 | AAATGGTT others(90): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02615.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0007 | a0001c0005t0001g0026 a0001c0005t0007g0012 a0001c0005t0007g0029 others(1): Show |
4 | 90 | 0.0444 | -97 | c.264 others(118): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 25/25 | chr4 | TogoVar | |||||||
IQCG_chr3_197884077_197964991 | 197887402 | TCCCCCAG others(90): Show |
T | downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 277 | 0.0036 | -97 | c.*20 others(108): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 1674 | chr3 | TogoVar | |||||||
ISG20_chr15_88634016_88661483 | 88652397 | CCCCCTCC others(90): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01167.hp2 HG01255.hp2 others(29): Show |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0052 others(19): Show |
32 | 429 | 0.0746 | -97 | c.429 others(111): Show |
ISG20 | ENSG00000172183.16 | transcript | ENST00000306072.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ISOC2_chr19_55447985_55466642 | 55450629 | ACAGGGGG others(90): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01243.hp1 others(35): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0010others(6): Show | a0001c0001t0004g0019 a0001c0001t0004g0041 a0001c0001t0004g0082 others(23): Show |
38 | 378 | 0.1005 | -97 | c.*25 others(108): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 2355 | chr19 | TogoVar | |||||||
ITGB3BP_chr1_63435770_63528225 | 63473489 | CGCCCGGC others(90): Show |
C | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 371 | 0.0027 | -97 | c.254 others(114): Show |
ITGB3BP | ENSG00000142856.17 | transcript | ENST00000271002.15 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
IVL_chr1_152903546_152916886 | 152909243 | AAACACAC others(90): Show |
A | intron_variant | MODIFIER | HG02015.hp1 | a0018 | a0018c0023 | a0018c0023t0006 | a0018c0023t0006g0016 | 1 | 424 | 0.0024 | -97 | c.-19 others(112): Show |
IVL | ENSG00000163207.7 | transcript | ENST00000368764.4 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
JARID2_chr6_15241069_15527042 | 15379999 | GGAAGGAG others(90): Show |
G | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 282 | 0.0035 | -97 | c.181 others(114): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JMJD8_chr16_676670_689334 | 679945 | TGATGGGG others(90): Show |
T | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01891.hp2 HG02109.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0011a0002c0002t0005 | a0001c0001t0003g0003 a0001c0001t0011g0015 a0002c0002t0005g0005 others(1): Show |
15 | 362 | 0.0414 | -97 | c.*27 others(108): Show |
JMJD8 | ENSG00000161999.13 | transcript | ENST00000609261.6 | protein_coding | 1724 | chr16 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21714787 | TTATTTTA others(90): Show |
T | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0028 | 1 | 16 | 0.0625 | -97 | c.61+ others(116): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997260 | GGGGGCGG others(90): Show |
G | upstream_gene_variant | MODIFIER | HG03209.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0250 | 1 | 372 | 0.0027 | -97 | c.-22 others(108): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 410 | chr6 | TogoVar | |||||||
KIR3DL1_chr19_54811468_54835778 | 54833509 | AGTGGAGT others(90): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0003a0002c0031a0026c0030 | a0002c0003t0002a0002c0031t0002a0026c0030t0002 | a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 others(12): Show |
62 | 394 | 0.1574 | -97 | c.*32 others(108): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 2732 | chr19 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87726200 | CCCGCGCC others(90): Show |
C | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0373 | 1 | 364 | 0.0027 | -97 | c.759 others(112): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 7/11 | chr16 | TogoVar | |||||||
LAMP1_chr13_113292239_113328672 | 113314600 | GCCTCCTA others(90): Show |
G | intron_variant | MODIFIER | NA18978.hp2 | a0009 | a0009c0011 | a0009c0011t0007 | a0009c0011t0007g0099 | 1 | 354 | 0.0028 | -97 | c.562 others(114): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LAMP1_chr13_113292239_113328672 | 113314724 | GCCCGTGT others(90): Show |
G | intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 354 | 0.0028 | -97 | c.562 others(114): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LAMP1_chr13_113292239_113328672 | 113314732 | GCCTGGGG others(90): Show |
G | intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 354 | 0.0028 | -97 | c.562 others(114): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LCN1_chr9_135516440_135531540 | 135528247 | TCACAGGT others(90): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02055.hp2 HG02109.hp1 others(19): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0058 others(9): Show |
22 | 434 | 0.0507 | -97 | c.*19 others(108): Show |
LCN1 | ENSG00000160349.10 | transcript | ENST00000371781.4 | protein_coding | 1708 | chr9 | TogoVar | |||||||
LCN9_chr9_135658309_135671961 | 135663839 | AGGGGGCC others(90): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0018 | 2 | 419 | 0.0048 | -97 | c.97- others(110): Show |
LCN9 | ENSG00000148386.10 | transcript | ENST00000619315.2 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LCN9_chr9_135658309_135671961 | 135663857 | AGAGGGCA others(90): Show |
A | intron_variant | MODIFIER | HG02074.hp2 HG02559.hp2 HG02818.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0019 a0001c0001t0002g0009 a0001c0001t0007g0013 others(1): Show |
13 | 420 | 0.0310 | -97 | c.97- others(110): Show |
LCN9 | ENSG00000148386.10 | transcript | ENST00000619315.2 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124506696 | GGCGGGTA others(90): Show |
G | intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 256 | 0.0039 | -97 | c.624 others(114): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124506987 | AGGGGGGT others(90): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 215 | 0.0047 | -97 | c.624 others(114): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRBA_chr4_150259435_151020284 | 150420419 | GTATATAT others(90): Show |
G | intron_variant | MODIFIER | HG01515.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0094 |
2 | 128 | 0.0156 | -97 | c.704 others(116): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 46/56 | chr4 | TogoVar | |||||||
LRCH3_chr3_197786254_197893436 | 197887402 | TCCCCCAG others(90): Show |
T | 3_prime_UTR_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0233 | 1 | 289 | 0.0035 | -97 | c.*38 others(108): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 21/21 | 3839 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LRP2_chr2_169122109_169367534 | 169327626 | TGCCGGGC others(90): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG03130.hp1 others(1): Show |
a0015a0021 | a0015c0026a0015c0072a0021c0082 | a0015c0026t0005a0015c0072t0004a0021c0082t0007 | a0015c0026t0005g0007 a0015c0026t0005g0009 a0015c0072t0004g0008 others(1): Show |
4 | 248 | 0.0161 | -97 | c.80- others(112): Show |
LRP2 | ENSG00000081479.15 | transcript | ENST00000649046.1 | protein_coding | 1/78 | chr2 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132374078 | TTGTGATA others(90): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0009a0001c0009t0002 | a0001c0001t0009g0007 a0001c0009t0002g0275 |
3 | 280 | 0.0107 | -97 | c.141 others(114): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19237576 | AATTATAA others(90): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00741.hp1 others(11): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0009a0001c0013others(9): Show | a0001c0003t0001a0001c0009t0001a0001c0013t0002others(9): Show | a0001c0003t0001g0109 a0001c0009t0001g0061 a0001c0013t0002g0073 others(11): Show |
14 | 150 | 0.0933 | -97 | c.299 others(118): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | chr10 | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19452260 | GAAGAGAA others(90): Show |
G | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 154 | 0.0065 | -97 | c.995 others(114): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | |||||||
MAPK10_chr4_86005405_86365053 | 86046031 | AAGACCTA others(90): Show |
A | intron_variant | MODIFIER | HG00621.hp2 NA18962.hp1 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0047 a0001c0003t0005g0056 |
2 | 168 | 0.0119 | -97 | c.111 others(118): Show |
MAPK10 | ENSG00000109339.24 | transcript | ENST00000641462.2 | protein_coding | 11/13 | chr4 | TogoVar | |||||||
MBD3L5_chr19_7025578_7038011 | 7036157 | AATTGTAT others(90): Show |
A | downstream_gene_variant | MODIFIER | NA18947.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 247 | 0.0040 | -97 | c.*32 others(108): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 3147 | chr19 | TogoVar | |||||||
MDGA1_chr6_37625679_37702883 | 37644050 | GCCCCACG others(90): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG02451.hp1 HG02486.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0009 | a0001c0001t0079a0001c0008t0004a0001c0008t0033others(3): Show | a0001c0001t0079g0344 a0001c0008t0004g0293 a0001c0008t0033g0057 others(5): Show |
8 | 399 | 0.0201 | -97 | c.240 others(114): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 13/16 | chr6 | TogoVar | |||||||
ME1_chr6_83205402_83436051 | 83243432 | TATATAAT others(90): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(89): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(89): Show |
92 | 242 | 0.3802 | -97 | c.815 others(114): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 7/13 | chr6 | TogoVar | |||||||
MRM3_chr17_777353_797509 | 793110 | AGCACTGC others(90): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02486.hp1 NA20129.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0090 |
4 | 438 | 0.0091 | -97 | c.*10 others(108): Show |
MRM3 | ENSG00000171861.11 | transcript | ENST00000304478.9 | protein_coding | 602 | chr17 | TogoVar | |||||||
MS4A14_chr11_60391459_60422756 | 60418969 | AAGTATAT others(90): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02717.hp2 |
a0009a0011 | a0009c0021a0011c0019 | a0009c0021t0001a0011c0019t0001 | a0009c0021t0001g0044 a0011c0019t0001g0044 |
2 | 426 | 0.0047 | -97 | c.*19 others(108): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 1214 | chr11 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80691969 | TTATATAG others(90): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0021 | 1 | 341 | 0.0029 | -97 | c.134 others(118): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MTOR_chr1_11101535_11267551 | 11250200 | CGGGGCGG others(90): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0102 | 1 | 254 | 0.0039 | -97 | c.841 others(114): Show |
MTOR | ENSG00000198793.14 | transcript | ENST00000361445.9 | protein_coding | 6/57 | chr1 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64173886 | CCTGCAGC others(90): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0017 | 1 | 220 | 0.0045 | -97 | c.-99 others(114): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |