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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTHFD1L_chr6_150860702_151106887 | 150916467 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0054a0001c0001t0003g0149a0001c0001t0004g0209others(6): Show | 9 | 226 | 0.0398 | 9 | c.893 others(26): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 150923540 | T | TATTTATT others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02559.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0034a0001c0001t0001g0176a0001c0001t0001g0177others(9): Show | 12 | 226 | 0.0531 | 9 | c.108 others(28): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 10/27 | chr6 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150939683 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01074.hp1 others(20): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0015 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0022a0001c0001t0001g0055a0001c0001t0001g0056others(20): Show | 23 | 226 | 0.1018 | 9 | c.144 others(26): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD2L_chr4_74153118_74308099 | 74185151 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01884.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0014others(3): Show | 6 | 200 | 0.0300 | 9 | c.451 others(26): Show |
MTHFD2L | ENSG00000163738.19 | transcript | ENST00000325278.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MTHFD2L_chr4_74153118_74308099 | 74291003 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02015.hp1 HG02293.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0033others(8): Show | 11 | 200 | 0.0550 | 9 | c.931 others(26): Show |
MTHFD2L | ENSG00000163738.19 | transcript | ENST00000325278.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MTMR12_chr5_32222007_32317939 | 32231381 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02257.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0017a0001c0001t0018others(3): Show | a0001c0001t0014g0334a0001c0001t0017g0358a0001c0001t0018g0011others(5): Show | 8 | 364 | 0.0220 | 9 | c.167 others(28): Show |
MTMR12 | ENSG00000150712.11 | transcript | ENST00000382142.8 | protein_coding | 15/15 | chr5 | TogoVar | ||||||
MTMR12_chr5_32222007_32317939 | 32267377 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02630.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0027a0001c0001t0042others(3): Show | a0001c0001t0018g0011a0001c0001t0018g0012a0001c0001t0018g0034others(5): Show | 9 | 364 | 0.0247 | 9 | c.583 others(26): Show |
MTMR12 | ENSG00000150712.11 | transcript | ENST00000382142.8 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
MTMR1_chrX_150688396_150770108 | 150698726 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 270 | 0.0037 | 9 | c.147 others(24): Show |
MTMR1 | ENSG00000063601.17 | transcript | ENST00000445323.7 | protein_coding | 1/15 | chrX | TogoVar | ||||||
MTMR2_chr11_95827880_95929107 | 95861402 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01516.hp2 HG02451.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0015a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0015t0016others(1): Show | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0170others(9): Show | 12 | 338 | 0.0355 | 9 | c.468 others(24): Show |
MTMR2 | ENSG00000087053.20 | transcript | ENST00000346299.10 | protein_coding | 5/14 | chr11 | TogoVar | ||||||
MTMR7_chr8_17291794_17418351 | 17322950 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01952.hp1 HG01978.hp1 HG02280.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0008a0001c0003t0001others(3): Show | a0001c0001t0001g0078a0001c0001t0001g0173a0001c0001t0001g0210others(8): Show | 11 | 360 | 0.0306 | 9 | c.865 others(26): Show |
MTMR7 | ENSG00000003987.14 | transcript | ENST00000180173.10 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
MTMR8_chrX_64263081_64400452 | 64287999 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0110 | 2 | 190 | 0.0105 | 9 | c.148 others(30): Show |
MTMR8 | ENSG00000102043.16 | transcript | ENST00000374852.4 | protein_coding | 12/13 | chrX | TogoVar | ||||||
MTMR8_chrX_64263081_64400452 | 64289636 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 190 | 0.0053 | 9 | c.148 others(30): Show |
MTMR8 | ENSG00000102043.16 | transcript | ENST00000374852.4 | protein_coding | 12/13 | chrX | TogoVar | ||||||
MTMR9_chr8_11279816_11333146 | 11294500 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02071.hp1 HG02080.hp1 others(38): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(7): Show | a0001c0001t0001g0019a0001c0001t0001g0050a0001c0001t0001g0051others(25): Show | 41 | 348 | 0.1178 | 9 | c.183 others(24): Show |
MTMR9 | ENSG00000104643.10 | transcript | ENST00000221086.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTMR9_chr8_11279816_11333146 | 11326469 | T | TTTGTTGT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01884.hp1 HG02280.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0085a0001c0002t0052a0001c0002t0060others(6): Show | a0001c0001t0085g0069a0001c0002t0052g0152a0001c0002t0060g0197others(9): Show | 13 | 348 | 0.0374 | 9 | c.*36 others(20): Show |
MTMR9 | ENSG00000104643.10 | transcript | ENST00000221086.8 | protein_coding | 10/10 | 3708 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
MTO1_chr6_73456737_73514236 | 73492995 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01884.hp2 HG01891.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(5): Show | a0001c0001t0001g0012a0001c0001t0001g0130a0001c0001t0001g0131others(17): Show | 21 | 396 | 0.0530 | 9 | c.175 others(26): Show |
MTO1 | ENSG00000135297.17 | transcript | ENST00000498286.6 | protein_coding | 10/11 | chr6 | TogoVar | ||||||
MTO1_chr6_73456737_73514236 | 73493389 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 NA18978.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0083a0001c0001t0085 | a0001c0001t0009g0309a0001c0001t0083g0262a0001c0001t0085g0171 | 3 | 396 | 0.0076 | 9 | c.175 others(28): Show |
MTO1 | ENSG00000135297.17 | transcript | ENST00000498286.6 | protein_coding | 10/11 | chr6 | TogoVar | ||||||
MTRFR_chr12_123228436_123262960 | 123244930 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG01109.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0003 | a0001c0001t0002g0126a0001c0001t0002g0139a0001c0001t0002g0140others(7): Show | 10 | 306 | 0.0327 | 9 | c.-28 others(26): Show |
MTRFR | ENSG00000130921.9 | transcript | ENST00000253233.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MTR_chr1_236790292_236908981 | 236823796 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02630.hp2 HG03139.hp1 others(4): Show |
a0001 | a0001c0001a0001c0018a0001c0020 | a0001c0001t0004a0001c0001t0006a0001c0001t0043others(3): Show | a0001c0001t0004g0007a0001c0001t0004g0009a0001c0001t0006g0253others(4): Show | 7 | 372 | 0.0188 | 9 | c.765 others(24): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MTR_chr1_236790292_236908981 | 236825140 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(101): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0004a0001c0001t0014a0001c0001t0028others(26): Show | a0001c0001t0004g0230a0001c0001t0014g0237a0001c0001t0028g0268others(99): Show | 104 | 372 | 0.2796 | 9 | c.866 others(24): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 9/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MTUS1_chr8_17638802_17806094 | 17661674 | G | GTTGGCCA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00738.hp1 others(69): Show |
a0001a0002a0003others(14): Show | a0001c0003a0001c0004a0001c0005others(31): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0024others(47): Show | a0001c0003t0001g0228a0001c0003t0002g0225a0001c0003t0002g0264others(69): Show | 72 | 330 | 0.2182 | 9 | c.290 others(28): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 8/14 | chr8 | TogoVar | ||||||
MTUS1_chr8_17638802_17806094 | 17670822 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02886.hp1 others(3): Show |
a0001a0006a0037others(1): Show | a0001c0005a0006c0019a0037c0051others(1): Show | a0001c0005t0004a0001c0005t0016a0006c0019t0002others(3): Show | a0001c0005t0004g0184a0001c0005t0016g0028a0006c0019t0002g0039others(3): Show | 6 | 330 | 0.0182 | 9 | c.290 others(28): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 8/14 | chr8 | TogoVar | ||||||
MTUS1_chr8_17638802_17806094 | 17756679 | C | CCCCCCAC others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00738.hp1 others(56): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0003a0001c0007others(17): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0037others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0082a0001c0001t0001g0132others(56): Show | 59 | 330 | 0.1788 | 9 | c.-15 others(26): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29200521 | G | GGTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02818.hp2 HG02970.hp2 others(2): Show |
a0001a0002a0003 | a0001c0005a0001c0010a0002c0002others(1): Show | a0001c0005t0001a0001c0010t0006a0002c0002t0003others(2): Show | a0001c0005t0001g0074a0001c0010t0006g0004a0002c0002t0003g0035others(2): Show | 5 | 92 | 0.0544 | 9 | c.264 others(30): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 5/15 | chr13 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29251292 | G | GATAATAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01978.hp2 HG02717.hp1 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0009others(5): Show | a0001c0001t0007a0001c0001t0013a0001c0001t0021others(11): Show | a0001c0001t0007g0020a0001c0001t0013g0073a0001c0001t0021g0016others(11): Show | 14 | 92 | 0.1522 | 9 | c.264 others(30): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MUC12_chr7_100964565_101023936 | 100974825 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01106.hp1 others(30): Show |
a0001a0033a0034others(26): Show | a0001c0001a0033c0011a0034c0010others(26): Show | a0001c0001t0001a0033c0011t0001a0034c0010t0001others(26): Show | a0001c0001t0001g0004a0001c0001t0001g0252a0033c0011t0001g0149others(29): Show | 33 | 342 | 0.0965 | 9 | c.67+ others(24): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MUC22_chr6_31005474_31040402 | 31020441 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(45): Show |
a0002a0006a0016others(19): Show | a0002c0006a0002c0007a0006c0005others(20): Show | a0002c0006t0001a0002c0007t0001a0002c0007t0003others(21): Show | a0002c0006t0001g0010a0002c0006t0001g0011a0002c0006t0001g0126others(34): Show | 48 | 461 | 0.1041 | 9 | c.71- others(24): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MUC4_chr3_195741771_195816929 | 195767675 | C | CCACCATC others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01192.hp2 HG02004.hp1 others(5): Show |
a0058a0060a0062others(5): Show | a0058c0200a0060c0199a0062c0197others(5): Show | a0058c0200t0015a0060c0199t0009a0062c0197t0009others(5): Show | a0058c0200t0015g0234a0060c0199t0009g0224a0062c0197t0009g0243others(5): Show | 8 | 249 | 0.0321 | 9 | c.135 others(28): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195767729 | A | ACTGCCAC others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01106.hp1 homoSapiens_chm13v2.hp1 |
a0009a0174 | a0009c0006a0174c0116 | a0009c0006t0001a0174c0116t0001 | a0009c0006t0001g0101a0009c0006t0001g0102a0174c0116t0001g0107 | 3 | 249 | 0.0121 | 9 | c.135 others(28): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195794088 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00639.hp1 others(30): Show |
a0007a0014a0015others(25): Show | a0007c0007a0014c0022a0015c0023others(25): Show | a0007c0007t0003a0014c0022t0004a0015c0023t0003others(25): Show | a0007c0007t0003g0152a0007c0007t0003g0154a0007c0007t0003g0209others(30): Show | 33 | 249 | 0.1325 | 9 | c.83- others(24): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 1/24 | chr3 | TogoVar | ||||||
MUC6_chr11_1007823_1041718 | 1020872 | C | CCTCCCCT others(2): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03516.hp2 NA19043.hp1 others(2): Show |
a0021a0063 | a0021c0022a0063c0202 | a0021c0022t0003a0063c0202t0003 | a0021c0022t0003g0013a0063c0202t0003g0276 | 5 | 406 | 0.0123 | 9 | c.359 others(26): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 27/32 | chr11 | TogoVar | ||||||
MVB12A_chr19_17415047_17430332 | 17418375 | C | CTTATTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 NA18995.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 400 | 0.0075 | 9 | c.-17 others(20): Show |
MVB12A | ENSG00000141971.14 | transcript | ENST00000317040.12 | protein_coding | 1671 | chr19 | TogoVar | ||||||
MVB12A_chr19_17415047_17430332 | 17418376 | A | ATATTATT others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00642.hp2 others(44): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(20): Show | 47 | 400 | 0.1175 | 9 | c.-17 others(20): Show |
MVB12A | ENSG00000141971.14 | transcript | ENST00000317040.12 | protein_coding | 1670 | chr19 | TogoVar | ||||||
MVB12B_chr9_126321829_126512040 | 126324539 | T | TAAGAAGA others(2): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG02257.hp1 HG03704.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0259a0001c0001t0004g0268a0001c0001t0004g0269others(1): Show | 4 | 318 | 0.0126 | 9 | c.-23 others(20): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 2289 | chr9 | TogoVar | ||||||
MVB12B_chr9_126321829_126512040 | 126351018 | C | CATAGTAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00673.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(7): Show | a0001c0001t0001g0256a0001c0001t0004g0004a0001c0001t0004g0005others(22): Show | 25 | 318 | 0.0786 | 9 | c.204 others(28): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MVB12B_chr9_126321829_126512040 | 126509318 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG02015.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(5): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0047others(13): Show | 16 | 318 | 0.0503 | 9 | c.*60 others(20): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 2279 | chr9 | TogoVar | ||||||
MXI1_chr10_110202605_110292365 | 110215031 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG01346.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0019others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0119a0001c0001t0001g0124others(29): Show | 32 | 372 | 0.0860 | 9 | c.274 others(26): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MXI1_chr10_110202605_110292365 | 110226048 | T | TGGGGCGG others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp1 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0050a0001c0001t0001g0115others(64): Show | 67 | 372 | 0.1801 | 9 | c.275 others(26): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MXRA5_chrX_3303565_3351652 | 3307043 | C | CATCTATC others(2): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0020 | a0020c0022 | a0020c0022t0009 | a0020c0022t0009g0010 | 1 | 284 | 0.0035 | 9 | c.*26 others(20): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 1521 | chrX | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3340986 | T | TAATGTAT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01169.hp2 HG01361.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116a0002c0002t0001g0117a0002c0002t0001g0120 | 3 | 284 | 0.0106 | 9 | c.188 others(26): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3341567 | T | TTATATAT others(2): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 284 | 0.0035 | 9 | c.188 others(26): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTCC others(2): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 HG03471.hp1 HG04199.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(2): Show | a0001c0001t0001g0099a0001c0001t0001g0107a0001c0001t0001g0297others(4): Show | 7 | 360 | 0.0194 | 9 | c.-32 others(20): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101591843 | C | CCTTCTTC others(2): Show |
upstream_gene_variant | MODIFIER | NA18984.hp2 NA18988.hp1 NA19054.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0264a0001c0001t0001g0292a0001c0001t0002g0313others(3): Show | 6 | 360 | 0.0167 | 9 | c.-32 others(20): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3127 | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101591846 | T | TCTCCTTC others(2): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01081.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0002others(9): Show | a0001c0001t0001g0269a0001c0001t0001g0294a0001c0001t0001g0308others(14): Show | 17 | 360 | 0.0472 | 9 | c.-32 others(20): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3124 | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101624683 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00673.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0003t0002others(11): Show | a0001c0001t0001g0006a0001c0001t0001g0036a0001c0001t0001g0044others(18): Show | 21 | 360 | 0.0583 | 9 | c.104 others(26): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYBPC1_chr12_101589971_101691028 | 101626088 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01081.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0006a0001c0001t0001g0036a0001c0001t0001g0042others(31): Show | 34 | 360 | 0.0944 | 9 | c.104 others(24): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYBPC1_chr12_101589971_101691028 | 101661916 | G | GAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02145.hp2 HG02735.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0108a0001c0001t0005g0118a0001c0001t0005g0241others(3): Show | 6 | 360 | 0.0167 | 9 | c.203 others(26): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYBPC2_chr19_50427892_50471321 | 50440323 | A | AAAATAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01346.hp2 others(6): Show |
a0001a0034 | a0001c0001a0034c0026 | a0001c0001t0001a0034c0026t0001 | a0001c0001t0001g0040a0001c0001t0001g0128a0001c0001t0001g0129others(6): Show | 9 | 396 | 0.0227 | 9 | c.573 others(24): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYCBP2_chr13_77039657_77332094 | 77056159 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG02738.hp2 NA18966.hp1 NA18995.hp1 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0002t0001a0001c0004t0001 | a0001c0001t0004g0184a0001c0002t0001g0068a0001c0004t0001g0150 | 3 | 334 | 0.0090 | 9 | c.134 others(28): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 79/82 | chr13 | TogoVar | ||||||
MYCBP_chr1_38857493_38878348 | 38866044 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0056a0001c0001t0001g0083others(45): Show | 78 | 434 | 0.1797 | 9 | c.267 others(24): Show |
MYCBP | ENSG00000214114.9 | transcript | ENST00000397572.5 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
MYCT1_chr6_152692897_152729569 | 152697504 | A | ACAACAAC others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00735.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0006a0003c0003t0001others(1): Show | a0001c0001t0002g0047a0001c0001t0006g0004a0003c0003t0001g0010others(1): Show | 8 | 444 | 0.0180 | 9 | c.-39 others(18): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 392 | chr6 | TogoVar |