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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IL21R_chr16_27397174_27457042 | 27412247 | ACACAAGG others(79): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0299 | 1 | 372 | 0.0027 | -86 | c.-17 others(103): Show |
IL21R | ENSG00000103522.17 | transcript | ENST00000337929.8 | protein_coding | 1/8 | chr16 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1360220 | TTCTCTGT others(79): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(57): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0020others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0026 others(57): Show |
60 | 115 | 0.5217 | -86 | c.759 others(103): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1367335 | GTGAGCGG others(79): Show |
G | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 115 | 0.0087 | -86 | c.874 others(103): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | chrX | TogoVar | |||||||
INPP5B_chr1_37855697_37952053 | 37939144 | AGGTCGTA others(79): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0002 | 2 | 346 | 0.0058 | -86 | c.391 others(103): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 6/23 | chr1 | TogoVar | |||||||
IQCA1_chr2_236319151_236512476 | 236488971 | GTGGGCTC others(79): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0025 | 1 | 208 | 0.0048 | -86 | c.457 others(101): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 3/18 | chr2 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7624756 | AACCTGGG others(79): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0007 | a0007c0067 | a0007c0067t0007 | a0007c0067t0007g0147 | 1 | 342 | 0.0029 | -86 | c.653 others(103): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITSN2_chr2_24197864_24365536 | 24251371 | GTATATAT others(79): Show |
G | intron_variant | MODIFIER | HG02717.hp1 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0064 |
2 | 224 | 0.0089 | -86 | c.312 others(103): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 25/39 | chr2 | TogoVar | |||||||
ITSN2_chr2_24197864_24365536 | 24251387 | ATATATAT others(79): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00642.hp2 others(54): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0005a0001c0018others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0040 others(54): Show |
57 | 224 | 0.2545 | -86 | c.312 others(103): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 25/39 | chr2 | TogoVar | |||||||
ITSN2_chr2_24197864_24365536 | 24251497 | GTATATAT others(79): Show |
G | intron_variant | MODIFIER | NA18964.hp2 NA18969.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0166 a0002c0002t0001g0186 |
2 | 224 | 0.0089 | -86 | c.312 others(103): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 25/39 | chr2 | TogoVar | |||||||
JAM3_chr11_134064072_134157001 | 134092515 | GCCCTCTT others(79): Show |
G | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 390 | 0.0026 | -86 | c.76+ others(103): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JAM3_chr11_134064072_134157001 | 134092521 | TTTATTCA others(79): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0089 |
2 | 390 | 0.0051 | -86 | c.76+ others(103): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JAM3_chr11_134064072_134157001 | 134092893 | ACCCTCCT others(79): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0005 | a0005c0009 | a0005c0009t0059 | a0005c0009t0059g0153 | 1 | 390 | 0.0026 | -86 | c.76+ others(103): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JAM3_chr11_134064072_134157001 | 134094267 | AACGTCAC others(79): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00733.hp2 HG00735.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0035others(1): Show | a0001c0001t0002g0001 a0001c0001t0002g0033 a0001c0001t0004g0003 others(31): Show |
41 | 390 | 0.1051 | -86 | c.76+ others(103): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JAM3_chr11_134064072_134157001 | 134094269 | CGTCACTT others(79): Show |
C | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0116 | 1 | 390 | 0.0026 | -86 | c.76+ others(103): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759726 | ACACATAT others(79): Show |
A | intron_variant | MODIFIER | HG03139.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0201 a0001c0001t0003g0203 |
2 | 232 | 0.0086 | -86 | c.-67 others(105): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759903 | TATCTATA others(79): Show |
T | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 232 | 0.0043 | -86 | c.-67 others(105): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNV2_chr9_2712510_2735037 | 2722454 | ATAGAAGT others(79): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG03942.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0056 | 2 | 442 | 0.0045 | -86 | c.135 others(105): Show |
KCNV2 | ENSG00000168263.9 | transcript | ENST00000382082.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45229051 | CCAAACAC others(79): Show |
C | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0104 | 1 | 398 | 0.0025 | -86 | c.64+ others(103): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIF1B_chr1_10205570_10386603 | 10274673 | GAATGCAC others(79): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(126): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0022others(7): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(28): Show | a0001c0001t0002g0255 a0001c0001t0008g0170 a0001c0001t0008g0171 others(126): Show |
129 | 300 | 0.4300 | -86 | c.883 others(101): Show |
KIF1B | ENSG00000054523.20 | transcript | ENST00000676179.1 | protein_coding | 10/48 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 168044330 | AGGGTGAG others(79): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 | 2 | 375 | 0.0053 | -86 | c.986 others(101): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KLHL30_chr2_238133668_238157947 | 238137276 | GCTGGGCT others(79): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00741.hp2 others(41): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0009a0001c0043others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0009t0001others(18): Show | a0001c0001t0001g0252 a0001c0001t0001g0306 a0001c0001t0001g0307 others(37): Show |
44 | 450 | 0.0978 | -86 | c.-15 others(97): Show |
KLHL30 | ENSG00000168427.9 | transcript | ENST00000409223.2 | protein_coding | 1391 | chr2 | TogoVar | |||||||
LAT2_chr7_74205006_74234834 | 74214333 | AATATATA others(79): Show |
A | intron_variant | MODIFIER | NA18955.hp2 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0096 |
2 | 344 | 0.0058 | -86 | c.-21 others(103): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LAT2_chr7_74205006_74234834 | 74214501 | TATATATA others(79): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01074.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0065 a0001c0001t0001g0138 others(3): Show |
7 | 344 | 0.0204 | -86 | c.-21 others(103): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LAT2_chr7_74205006_74234834 | 74214545 | TATATATA others(79): Show |
T | intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 344 | 0.0029 | -86 | c.-21 others(103): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LATS2_chr13_20968036_21066586 | 21007603 | GTGTGTAT others(79): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0058 | 1 | 316 | 0.0032 | -86 | c.343 others(105): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21007622 | GTGTATAT others(79): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02723.hp2 others(2): Show |
a0003 | a0003c0008a0003c0009 | a0003c0008t0046a0003c0009t0009a0003c0009t0016others(2): Show | a0003c0008t0046g0288 a0003c0009t0009g0308 a0003c0009t0016g0307 others(2): Show |
5 | 316 | 0.0158 | -86 | c.343 others(105): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
LDHAL6A_chr11_18450856_18484601 | 18467939 | ACACACAT others(79): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02723.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0029 a0001c0001t0008g0263 a0001c0001t0008g0265 others(1): Show |
5 | 420 | 0.0119 | -86 | c.418 others(103): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
LEKR1_chr3_156821353_157051129 | 156899369 | TACATATA others(79): Show |
T | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 244 | 0.0041 | -86 | c.264 others(105): Show |
LEKR1 | ENSG00000197980.14 | transcript | ENST00000356539.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 948898 | CAGAGTCA others(79): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0279 | 1 | 294 | 0.0034 | -86 | c.503 others(103): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
LMNTD2_chr11_549850_565738 | 562772 | TGCAGGTG others(79): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0017 | 1 | 387 | 0.0026 | -86 | c.-21 others(97): Show |
LMNTD2 | ENSG00000185522.9 | transcript | ENST00000329451.8 | protein_coding | 2035 | chr11 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364658 | ATCTACCT others(79): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG02717.hp2 |
a0001 | a0001c0006 | a0001c0006t0017a0001c0006t0027 | a0001c0006t0017g0105 a0001c0006t0027g0107 |
2 | 290 | 0.0069 | -86 | c.129 others(103): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
MACROD2_chr20_13990516_16058197 | 14702564 | TACACATA others(79): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01168.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0002g0015 others(3): Show |
6 | 24 | 0.2500 | -86 | c.418 others(105): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MACROD2_chr20_13990516_16058197 | 15021070 | ATGTGTGT others(79): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0009 | 1 | 24 | 0.0417 | -86 | c.419 others(107): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MAFK_chr7_1525702_1548043 | 1526161 | GGGGGGGG others(79): Show |
G | upstream_gene_variant | MODIFIER | NA18997.hp1 NA19086.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011 | a0001c0001t0002g0019 a0001c0001t0003g0006 a0001c0001t0011g0085 |
3 | 380 | 0.0079 | -86 | c.-47 others(97): Show |
MAFK | ENSG00000198517.10 | transcript | ENST00000343242.9 | protein_coding | 4540 | chr7 | TogoVar | |||||||
MAFK_chr7_1525702_1548043 | 1526179 | AAAGGAGA others(79): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(157): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0014 a0001c0001t0001g0045 a0001c0001t0001g0046 others(63): Show |
160 | 380 | 0.4211 | -86 | c.-47 others(97): Show |
MAFK | ENSG00000198517.10 | transcript | ENST00000343242.9 | protein_coding | 4522 | chr7 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19238433 | AATATATA others(79): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00642.hp1 others(25): Show |
a0001a0003a0004others(21): Show | a0001c0001a0003c0039a0004c0008others(23): Show | a0001c0001t0001a0003c0039t0001a0004c0008t0001others(23): Show | a0001c0001t0001g0057 a0001c0001t0001g0129 a0003c0039t0001g0134 others(25): Show |
28 | 152 | 0.1842 | -86 | c.299 others(107): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAPK8IP3_chr16_1701195_1775351 | 1738349 | TGTGACCA others(79): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02486.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0002a0001c0004t0007a0001c0005t0005others(3): Show | a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0319 others(7): Show |
10 | 330 | 0.0303 | -86 | c.603 others(103): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MAPK9_chr5_180228143_180297083 | 180296869 | ACACACAC others(79): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01167.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0003g0122 a0001c0001t0004g0322 a0001c0001t0004g0326 others(20): Show |
23 | 372 | 0.0618 | -86 | c.-51 others(97): Show |
MAPK9 | ENSG00000050748.18 | transcript | ENST00000452135.7 | protein_coding | 4787 | chr5 | TogoVar | |||||||
MAS1_chr6_159885988_159922447 | 159921619 | ACACTAAT others(79): Show |
A | downstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0130 | 1 | 348 | 0.0029 | -86 | c.*13 others(99): Show |
MAS1 | ENSG00000130368.7 | transcript | ENST00000674077.2 | protein_coding | 4173 | chr6 | TogoVar | |||||||
METRNL_chr17_83074609_83100122 | 83090420 | CCCCCCGC others(79): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0183 | 1 | 399 | 0.0025 | -86 | c.557 others(103): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MIER2_chr19_300573_349796 | 309573 | GACACACA others(79): Show |
G | intron_variant | MODIFIER | NA18946.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0052 |
2 | 384 | 0.0052 | -86 | c.985 others(101): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 10/13 | chr19 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50488407 | TGGTGCTT others(79): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0004 | a0001c0001t0007g0063 a0001c0003t0004g0041 |
2 | 436 | 0.0046 | -86 | c.408 others(101): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543276 | GGTGAATG others(79): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01884.hp1 HG01884.hp2 others(9): Show |
a0002a0003a0005others(4): Show | a0002c0008a0003c0003a0005c0004others(4): Show | a0002c0008t0001a0003c0003t0005a0005c0004t0001others(5): Show | a0002c0008t0001g0090 a0003c0003t0005g0242 a0005c0004t0001g0018 others(9): Show |
12 | 286 | 0.0420 | -86 | c.153 others(103): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543647 | GGGGACAG others(79): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG03516.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0238 a0003c0003t0002g0262 |
2 | 286 | 0.0070 | -86 | c.153 others(104): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543942 | GGGACAGT others(79): Show |
G | intron_variant | MODIFIER | HG02965.hp1 NA19043.hp1 |
a0003a0004 | a0003c0003a0004c0014 | a0003c0003t0002a0004c0014t0001 | a0003c0003t0002g0256 a0004c0014t0001g0230 |
2 | 286 | 0.0070 | -86 | c.153 others(105): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544179 | TGGGGGGA others(79): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 |
a0003a0016 | a0003c0003a0016c0024 | a0003c0003t0005a0016c0024t0005 | a0003c0003t0005g0242 a0016c0024t0005g0138 |
2 | 286 | 0.0070 | -86 | c.153 others(105): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MS4A1_chr11_60450847_60475752 | 60451487 | GCAGCCAC others(79): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0037 others(14): Show |
58 | 446 | 0.1300 | -86 | c.-47 others(97): Show |
MS4A1 | ENSG00000156738.18 | transcript | ENST00000345732.9 | protein_coding | 4359 | chr11 | TogoVar | |||||||
MS4A5_chr11_60424572_60452792 | 60451487 | GCAGCCAC others(79): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG01361.hp1 others(61): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0006c0009others(1): Show | a0001c0001t0001a0001c0002t0001a0006c0009t0001others(1): Show | a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0002t0001g0003 others(23): Show |
64 | 462 | 0.1385 | -86 | c.*37 others(97): Show |
MS4A5 | ENSG00000166930.7 | transcript | ENST00000300190.7 | protein_coding | 3696 | chr11 | TogoVar | |||||||
MTTP_chr4_99569824_99628997 | 99601385 | GAATTCCC others(79): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01123.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 |
3 | 364 | 0.0082 | -86 | c.123 others(103): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MUC5B_chr11_1218066_1267172 | 1245031 | AGTGCTGA others(79): Show |
A | frameshift_variant | HIGH | HG03130.hp1 | a0107 | a0107c0113 | a0107c0113t0003 | a0107c0113t0003g0173 | 1 | 350 | 0.0029 | -86 | c.815 others(95): Show |
p.Val others(6): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 8210/17911 | 8152/17289 | 2718/5762 | chr11 | TogoVar |