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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LPP_chr3_188149157_188895671 | 188784466 | CATATATA others(47): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0015 | a0002c0015t0037 | a0002c0015t0037g0051 | 1 | 76 | 0.0132 | -54 | c.141 others(75): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LRBA_chr4_150259435_151020284 | 150639753 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | NA18939.hp2 NA18950.hp1 NA21309.hp2 |
a0001a0015 | a0001c0001a0001c0005a0015c0029 | a0001c0001t0004a0001c0005t0001a0015c0029t0001 | a0001c0001t0004g0025a0001c0005t0001g0159a0015c0029t0001g0017 | 3 | 180 | 0.0167 | -54 | c.592 others(75): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | ||||||
LRFN5_chr14_41601876_41909549 | 41764786 | GTGCAGAA others(47): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013 | a0001c0001t0006g0276a0001c0001t0006g0278a0001c0001t0013g0279 | 3 | 280 | 0.0107 | -54 | c.-19 others(73): Show |
LRFN5 | ENSG00000165379.14 | transcript | ENST00000298119.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
LRP1B_chr2_140226423_142136016 | 141381938 | TGGAAATT others(47): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02922.hp2 |
a0001 | a0001c0008a0001c0026 | a0001c0008t0001a0001c0026t0001 | a0001c0008t0001g0008a0001c0026t0001g0025 | 2 | 28 | 0.0714 | -54 | c.343 others(73): Show |
LRP1B | ENSG00000168702.18 | transcript | ENST00000389484.8 | protein_coding | 3/90 | chr2 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132352412 | CGAGGCCT others(47): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01070.hp2 others(8): Show |
a0002 | a0002c0004 | a0002c0004t0010a0002c0004t0011a0002c0004t0016others(1): Show | a0002c0004t0010g0011a0002c0004t0010g0013a0002c0004t0010g0014others(8): Show | 11 | 290 | 0.0379 | -54 | c.107 others(71): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132356351 | GCCAAGAT others(47): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01123.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0118others(5): Show | 8 | 290 | 0.0276 | -54 | c.117 others(71): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132356401 | ATCCCCCA others(47): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00735.hp2 others(70): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0023others(20): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(69): Show | 73 | 290 | 0.2517 | -54 | c.117 others(71): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69717824 | AAGAAAGA others(47): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0017 | a0001c0017t0052 | a0001c0017t0052g0017 | 1 | 108 | 0.0093 | -54 | c.100 others(73): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC9_chr14_59915144_60071817 | 59975097 | ATATACAT others(47): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00639.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0082others(15): Show | 18 | 322 | 0.0559 | -54 | c.163 others(71): Show |
LRRC9 | ENSG00000131951.12 | transcript | ENST00000570145.2 | protein_coding | 13/32 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
LSG1_chr3_194635791_194677191 | 194645535 | GACACACA others(47): Show |
G | intron_variant | MODIFIER | NA18969.hp2 NA18995.hp1 NA19012.hp2 |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0320a0002c0002t0009g0324a0002c0002t0009g0325 | 3 | 408 | 0.0074 | -54 | c.162 others(71): Show |
LSG1 | ENSG00000041802.11 | transcript | ENST00000265245.10 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
LTBP2_chr14_74493183_74617237 | 74564189 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0011 | a0011c0050 | a0011c0050t0003 | a0011c0050t0003g0272 | 1 | 282 | 0.0036 | -54 | c.831 others(71): Show |
LTBP2 | ENSG00000119681.12 | transcript | ENST00000261978.9 | protein_coding | 3/35 | chr14 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24566901 | TGTTATAT others(47): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00621.hp1 others(111): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0016others(111): Show | 114 | 116 | 0.9828 | -54 | c.62+ others(71): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24741910 | TAATATAT others(47): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0033 | 1 | 116 | 0.0086 | -54 | c.333 others(71): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MAB21L4_chr2_240881048_240901156 | 240892569 | GCCGTTTC others(47): Show |
G | intron_variant | MODIFIER | HG02132.hp2 NA18971.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0033 | 2 | 446 | 0.0045 | -54 | c.515 others(69): Show |
MAB21L4 | ENSG00000172478.18 | transcript | ENST00000388934.5 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
MAFA_chr8_143423064_143435732 | 143425124 | GCAGGAGA others(47): Show |
G | downstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 446 | 0.0022 | -54 | c.*41 others(65): Show |
MAFA | ENSG00000182759.4 | transcript | ENST00000333480.3 | protein_coding | 2939 | chr8 | TogoVar | ||||||
MAGEB10_chrX_27802990_27828014 | 27809476 | CCCGCCGG others(47): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0048 | 1 | 250 | 0.0040 | -54 | c.-19 others(73): Show |
MAGEB10 | ENSG00000177689.10 | transcript | ENST00000356790.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
MAGI1_chr3_65348526_66043918 | 65538953 | TAACTACC others(47): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01496.hp1 HG02040.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0033a0001c0001t0001g0042others(4): Show | 7 | 104 | 0.0673 | -54 | c.431 others(73): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 2/22 | chr3 | TogoVar | ||||||
MAGI2_chr7_78012055_79458667 | 79324619 | AATATATA others(47): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02965.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004a0001c0006others(2): Show | a0001c0002t0001a0001c0004t0001a0001c0006t0001others(2): Show | a0001c0002t0001g0009a0001c0004t0001g0018a0001c0006t0001g0038others(2): Show | 5 | 40 | 0.1250 | -54 | c.301 others(75): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
MAGI2_chr7_78012055_79458667 | 79324643 | AATATATA others(47): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0037 | 1 | 40 | 0.0250 | -54 | c.301 others(75): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19171994 | TATATATC others(47): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG01256.hp2 HG02055.hp1 |
a0001a0065a0080 | a0001c0052a0065c0109a0080c0053 | a0001c0052t0001a0065c0109t0002a0080c0053t0001 | a0001c0052t0001g0116a0065c0109t0002g0077a0080c0053t0001g0117 | 3 | 152 | 0.0197 | -54 | c.183 others(73): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 13/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MAP3K12_chr12_53474669_53504458 | 53498908 | CTGTGTGT others(47): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0019a0001c0001t0001g0026a0001c0001t0001g0030others(33): Show | 39 | 328 | 0.1189 | -54 | c.-38 others(69): Show |
MAP3K12 | ENSG00000139625.13 | transcript | ENST00000547488.6 | protein_coding | 1/13 | chr12 | TogoVar | ||||||
MAP3K13_chr3_185358136_185494094 | 185453982 | GATATATA others(47): Show |
G | intron_variant | MODIFIER | HG02132.hp2 HG03540.hp1 NA18991.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0003t0009 | a0001c0001t0002g0025a0001c0001t0005g0027a0001c0003t0009g0261 | 3 | 278 | 0.0108 | -54 | c.127 others(73): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MAP3K13_chr3_185358136_185494094 | 185454584 | TGATATAT others(47): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0016 | a0001c0016t0059 | a0001c0016t0059g0052 | 1 | 278 | 0.0036 | -54 | c.127 others(73): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MAPKAP1_chr9_125432394_125712208 | 125693676 | TATATATA others(47): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143a0001c0001t0001g0144 | 2 | 300 | 0.0067 | -54 | c.-70 others(73): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
MARCHF6_chr5_10348695_10445388 | 10435623 | CTATATAA others(47): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0153 | a0001c0001t0153g0227 | 1 | 284 | 0.0035 | -54 | c.*19 others(65): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 26/26 | 1946 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
MBTD1_chr17_51172425_51265049 | 51197041 | GATATATA others(47): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(105): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0009others(56): Show | a0001c0001t0006g0002a0001c0001t0006g0070a0001c0001t0006g0072others(103): Show | 108 | 340 | 0.3177 | -54 | c.122 others(73): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 12/16 | chr17 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113025098 | GGGTCCCT others(47): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01993.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0006a0001c0006t0002others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0030others(7): Show | 10 | 116 | 0.0862 | -54 | c.278 others(69): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MCF2L_chr13_112964214_113104742 | 113025359 | GTCATGGT others(47): Show |
G | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 116 | 0.0086 | -54 | c.278 others(69): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MCF2L_chr13_112964214_113104742 | 113026070 | CGGTCCCC others(47): Show |
C | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0070 | 1 | 116 | 0.0086 | -54 | c.278 others(71): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MCF2L_chr13_112964214_113104742 | 113033345 | TAGTGGAC others(47): Show |
T | intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0072 | 1 | 116 | 0.0086 | -54 | c.278 others(71): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MCF2_chrX_139576770_139713167 | 139709428 | CATAGTAT others(47): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG01109.hp1 others(62): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0022others(59): Show | 65 | 249 | 0.2610 | -54 | c.-14 others(65): Show |
MCF2 | ENSG00000101977.22 | transcript | ENST00000519895.6 | protein_coding | 1262 | chrX | TogoVar | ||||||
MCRS1_chr12_49553299_49573142 | 49564156 | CCCGCCCA others(47): Show |
C | intron_variant | MODIFIER | NA19056.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 2 | 308 | 0.0065 | -54 | c.557 others(69): Show |
MCRS1 | ENSG00000187778.14 | transcript | ENST00000343810.9 | protein_coding | 6/14 | chr12 | TogoVar | ||||||
MDGA1_chr6_37625679_37702883 | 37698156 | TTCTCTTT others(47): Show |
T | upstream_gene_variant | MODIFIER | HG02622.hp1 HG03225.hp1 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0068a0001c0006t0069 | a0001c0003t0068g0077a0001c0006t0069g0078 | 2 | 402 | 0.0050 | -54 | c.-13 others(65): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 274 | chr6 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169191700 | AAAAGAAA others(47): Show |
A | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0096 | 1 | 160 | 0.0063 | -54 | c.376 others(73): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169485933 | GTATATAT others(47): Show |
G | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0016 | 1 | 160 | 0.0063 | -54 | c.38- others(73): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151293584 | CACACACA others(47): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG02735.hp1 HG03669.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0022a0002c0003 | a0001c0001t0004a0001c0001t0013a0001c0022t0003others(3): Show | a0001c0001t0004g0172a0001c0001t0013g0121a0001c0022t0003g0208others(3): Show | 6 | 280 | 0.0214 | -54 | c.225 others(75): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED16_chr19_862963_898187 | 872931 | AGGAGGGC others(47): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 56 | 0.0179 | -54 | c.190 others(71): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | TogoVar | ||||||
MED16_chr19_862963_898187 | 873077 | GAGGGCTC others(47): Show |
G | intron_variant | MODIFIER | HG01978.hp1 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0048 | 1 | 56 | 0.0179 | -54 | c.190 others(71): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583288 | ACAGCCAC others(47): Show |
A | intron_variant | MODIFIER | HG03471.hp1 HG03540.hp2 |
a0038a0052 | a0038c0028a0052c0096 | a0038c0028t0063a0052c0096t0007 | a0038c0028t0063g0266a0052c0096t0007g0229 | 2 | 292 | 0.0069 | -54 | c.377 others(71): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3585948 | AGGACGCA others(47): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 HG03225.hp2 others(4): Show |
a0008a0018a0024others(4): Show | a0008c0108a0018c0013a0024c0030others(4): Show | a0008c0108t0023a0018c0013t0020a0024c0030t0030others(4): Show | a0008c0108t0023g0003a0018c0013t0020g0289a0024c0030t0030g0267others(4): Show | 7 | 292 | 0.0240 | -54 | c.377 others(71): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MEIKIN_chr5_131801990_131950663 | 131849356 | GAACCTCT others(47): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01071.hp2 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0034a0001c0001t0001g0044a0001c0001t0001g0053others(65): Show | 69 | 346 | 0.1994 | -54 | c.975 others(71): Show |
MEIKIN | ENSG00000239642.6 | transcript | ENST00000442687.6 | protein_coding | 11/12 | chr5 | TogoVar | ||||||
MESP1_chr15_89744875_89756249 | 89746347 | ACATCCAC others(47): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02647.hp2 others(3): Show |
a0002a0008 | a0002c0011a0008c0012 | a0002c0011t0002a0008c0012t0002 | a0002c0011t0002g0024a0008c0012t0002g0014 | 6 | 428 | 0.0140 | -54 | c.*37 others(65): Show |
MESP1 | ENSG00000166823.6 | transcript | ENST00000300057.5 | protein_coding | 3527 | chr15 | TogoVar | ||||||
MFGE8_chr15_88893683_88918379 | 88915872 | GTGTATAT others(47): Show |
G | upstream_gene_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0102 | 1 | 436 | 0.0023 | -54 | c.-26 others(65): Show |
MFGE8 | ENSG00000140545.16 | transcript | ENST00000268150.13 | protein_coding | 2494 | chr15 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142042566 | AATATATA others(47): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00609.hp1 others(101): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0004a0001c0005others(40): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(40): Show | a0001c0001t0001g0007a0001c0001t0001g0032a0001c0001t0001g0130others(100): Show | 104 | 316 | 0.3291 | -54 | c.249 others(73): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MIB2_chr1_1610500_1635605 | 1628107 | ACATCGAT others(47): Show |
A | conservative_inframe_deletion | MODERATE | HG01255.hp2 | a0011 | a0011c0023 | a0011c0023t0002 | a0011c0023t0002g0121 | 1 | 412 | 0.0024 | -54 | c.177 others(63): Show |
p.Ile others(13): Show |
MIB2 | ENSG00000197530.13 | transcript | ENST00000355826.10 | protein_coding | 14/20 | 2034/3206 | 1771/2868 | 591/955 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
MICAL3_chr22_17782649_18029561 | 17877211 | GGTTATGG others(47): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0007 | a0007c0013 | a0007c0013t0006 | a0007c0013t0006g0249 | 1 | 274 | 0.0037 | -54 | c.224 others(73): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877493 | TAGGGAGG others(47): Show |
T | intron_variant | MODIFIER | HG02818.hp2 NA18906.hp2 |
a0001a0002 | a0001c0063a0002c0062 | a0001c0063t0001a0002c0062t0015 | a0001c0063t0001g0008a0002c0062t0015g0078 | 2 | 274 | 0.0073 | -54 | c.224 others(73): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17983410 | TCATCTCT others(47): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01168.hp1 HG01169.hp2 others(15): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0002a0001c0056others(6): Show | a0001c0001t0001a0001c0002t0006a0001c0056t0003others(9): Show | a0001c0001t0001g0053a0001c0001t0001g0055a0001c0001t0001g0056others(15): Show | 18 | 274 | 0.0657 | -54 | c.-75 others(73): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 1/31 | chr22 | TogoVar | ||||||
MIEF2_chr17_18255662_18271552 | 18268413 | AGGCTGCC others(47): Show |
A | downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 418 | 0.0024 | -54 | c.*36 others(65): Show |
MIEF2 | ENSG00000177427.13 | transcript | ENST00000323019.9 | protein_coding | 1862 | chr17 | TogoVar | ||||||
MINAR1_chr15_79427336_79477304 | 79437820 | GTGGGTGT others(47): Show |
G | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0260 | 1 | 390 | 0.0026 | -54 | c.-51 others(71): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |