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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MICU3_chr8_17022238_17127642 | 17031262 | T | TTTTTTAT others(2): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02809.hp1 NA18522.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0008 | a0001c0001t0001g0004a0001c0001t0001g0205a0002c0002t0008g0177 | 4 | 374 | 0.0107 | 9 | c.381 others(26): Show |
MICU3 | ENSG00000155970.12 | transcript | ENST00000318063.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MICU3_chr8_17022238_17127642 | 17031262 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02055.hp2 HG02109.hp1 others(11): Show |
a0002a0006 | a0002c0002a0002c0005a0006c0008 | a0002c0002t0001a0002c0002t0005a0002c0002t0017others(2): Show | a0002c0002t0001g0003a0002c0002t0001g0182a0002c0002t0001g0183others(10): Show | 14 | 374 | 0.0374 | 9 | c.381 others(26): Show |
MICU3 | ENSG00000155970.12 | transcript | ENST00000318063.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MID1_chrX_10440556_10625585 | 10504226 | T | TGCATAAT others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG03710.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(1): Show | a0001c0001t0001g0154a0001c0002t0001g0038a0001c0002t0001g0108others(4): Show | 7 | 165 | 0.0424 | 9 | c.757 others(26): Show |
MID1 | ENSG00000101871.18 | transcript | ENST00000317552.9 | protein_coding | 3/9 | chrX | TogoVar | ||||||
MID1_chrX_10440556_10625585 | 10510830 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0007 | a0001c0007t0021 | a0001c0007t0021g0162 | 1 | 165 | 0.0061 | 9 | c.756 others(28): Show |
MID1 | ENSG00000101871.18 | transcript | ENST00000317552.9 | protein_coding | 3/9 | chrX | TogoVar | ||||||
MID1_chrX_10440556_10625585 | 10533377 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 165 | 0.0061 | 9 | c.661 others(28): Show |
MID1 | ENSG00000101871.18 | transcript | ENST00000317552.9 | protein_coding | 2/9 | chrX | TogoVar | ||||||
MID1_chrX_10440556_10625585 | 10533378 | A | AAGAAAGA others(2): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 165 | 0.0061 | 9 | c.661 others(28): Show |
MID1 | ENSG00000101871.18 | transcript | ENST00000317552.9 | protein_coding | 2/9 | chrX | TogoVar | ||||||
MID1_chrX_10440556_10625585 | 10602225 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02258.hp1 HG03130.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0009a0001c0002t0020others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0157a0001c0001t0001g0159others(5): Show | 8 | 165 | 0.0485 | 9 | c.-57 others(28): Show |
MID1 | ENSG00000101871.18 | transcript | ENST00000317552.9 | protein_coding | 1/9 | chrX | TogoVar | ||||||
MIDEAS_chr14_73710122_73765303 | 73739238 | C | CTGCTGCT others(2): Show |
disruptive_inframe_insertion | MODERATE | HG01928.hp1 HG01943.hp1 HG01981.hp1 others(2): Show |
a0005 | a0005c0011 | a0005c0011t0007a0005c0011t0010a0005c0011t0017others(1): Show | a0005c0011t0007g0039a0005c0011t0010g0026a0005c0011t0010g0050others(2): Show | 5 | 352 | 0.0142 | 9 | c.762 others(16): Show |
p.Gln others(22): Show |
MIDEAS | ENSG00000156030.14 | transcript | ENST00000423556.7 | protein_coding | 2/13 | 1558/7809 | 770/3300 | 257/1099 | chr14 | TogoVar | ||
MIDEAS_chr14_73710122_73765303 | 73757279 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00738.hp1 others(62): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0011others(25): Show | a0001c0001t0004g0293a0001c0001t0009g0270a0001c0001t0011g0265others(56): Show | 65 | 352 | 0.1847 | 9 | c.-24 others(28): Show |
MIDEAS | ENSG00000156030.14 | transcript | ENST00000423556.7 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
MIER2_chr19_300573_349796 | 331360 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG02145.hp1 others(3): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0002 | a0001c0002t0002g0092a0001c0002t0002g0096a0001c0002t0002g0104others(3): Show | 6 | 384 | 0.0156 | 9 | c.243 others(26): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 3/13 | chr19 | TogoVar | ||||||
MIER2_chr19_300573_349796 | 337870 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02300.hp1 HG02451.hp1 others(11): Show |
a0001a0008 | a0001c0002a0001c0005a0008c0026 | a0001c0002t0002a0001c0005t0002a0008c0026t0002 | a0001c0002t0002g0089a0001c0002t0002g0091a0001c0002t0002g0093others(10): Show | 14 | 384 | 0.0365 | 9 | c.10- others(24): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 1/13 | chr19 | TogoVar | ||||||
MIER2_chr19_300573_349796 | 346848 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00738.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(3): Show | a0001c0001t0001g0031a0001c0001t0001g0106a0001c0001t0001g0107others(19): Show | 23 | 384 | 0.0599 | 9 | c.-20 others(20): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 2053 | chr19 | TogoVar | ||||||
MIER2_chr19_300573_349796 | 346859 | A | AAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp2 others(21): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0001t0013a0001c0022t0002 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0085others(20): Show | 24 | 384 | 0.0625 | 9 | c.-20 others(20): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 2064 | chr19 | TogoVar | ||||||
MIGA1_chr1_77774649_77884540 | 77871125 | G | GGGAGAGG others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01070.hp2 others(37): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0021others(37): Show | 40 | 280 | 0.1429 | 9 | c.146 others(28): Show |
MIGA1 | ENSG00000180488.17 | transcript | ENST00000370791.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MINAR1_chr15_79427336_79477304 | 79438354 | G | GGTGGGCA others(2): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02717.hp2 HG04228.hp2 others(2): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0021a0001c0004t0001others(2): Show | a0001c0001t0001g0219a0001c0002t0021g0050a0001c0004t0001g0244others(2): Show | 5 | 390 | 0.0128 | 9 | c.-51 others(26): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | chr15 | TogoVar | ||||||
MINAR1_chr15_79427336_79477304 | 79438354 | G | GGTGGGTA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02132.hp1 HG02523.hp1 others(4): Show |
a0003a0011 | a0003c0005a0011c0022 | a0003c0005t0006a0011c0022t0022 | a0003c0005t0006g0041a0003c0005t0006g0042a0003c0005t0006g0043others(4): Show | 7 | 390 | 0.0180 | 9 | c.-51 others(26): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | chr15 | TogoVar | ||||||
MINAR1_chr15_79427336_79477304 | 79439162 | T | TGGGTAGT others(2): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01261.hp1 HG01884.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0044 | a0001c0001t0001g0009a0001c0001t0001g0203a0001c0001t0001g0232others(5): Show | 9 | 390 | 0.0231 | 9 | c.-51 others(26): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MINAR1_chr15_79427336_79477304 | 79439301 | G | GGTAGTGA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00621.hp1 others(63): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0042others(15): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(50): Show | 66 | 390 | 0.1692 | 9 | c.-51 others(26): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MINDY2_chr15_58766302_58866900 | 58863019 | T | TGTGTGTG others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00621.hp1 others(54): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(22): Show | a0001c0001t0002g0193a0001c0001t0002g0230a0001c0001t0002g0254others(54): Show | 57 | 384 | 0.1484 | 9 | c.*84 others(20): Show |
MINDY2 | ENSG00000128923.11 | transcript | ENST00000559228.6 | protein_coding | 1120 | chr15 | TogoVar | ||||||
MINDY4_chr7_30766417_30897387 | 30822620 | C | CTATTTTA others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01516.hp1 HG01517.hp2 others(23): Show |
a0002a0004a0007others(4): Show | a0002c0003a0004c0011a0004c0013others(6): Show | a0002c0003t0001a0004c0011t0001a0004c0013t0001others(6): Show | a0002c0003t0001g0283a0004c0011t0001g0125a0004c0011t0001g0127others(23): Show | 26 | 300 | 0.0867 | 9 | c.107 others(28): Show |
MINDY4 | ENSG00000106125.14 | transcript | ENST00000265299.6 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MINK1_chr17_4828340_4903061 | 4867074 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00621.hp1 others(55): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0050a0001c0004t0006others(21): Show | a0001c0001t0002g0202a0001c0001t0050g0131a0001c0004t0006g0331others(55): Show | 58 | 360 | 0.1611 | 9 | c.58- others(26): Show |
MINK1 | ENSG00000141503.17 | transcript | ENST00000355280.11 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MINPP1_chr10_87499893_87558461 | 87537511 | T | TCTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02258.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0165 | 4 | 412 | 0.0097 | 9 | c.106 others(30): Show |
MINPP1 | ENSG00000107789.16 | transcript | ENST00000371996.9 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
MIOX_chr22_50481859_50495648 | 50488769 | T | TGTCCCTC others(2): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02145.hp1 HG02145.hp2 others(8): Show |
a0001a0003 | a0001c0003a0003c0015 | a0001c0003t0003a0001c0003t0004a0003c0015t0003 | a0001c0003t0003g0004a0001c0003t0004g0041a0003c0015t0003g0004 | 11 | 436 | 0.0252 | 9 | c.409 others(24): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MIOX_chr22_50481859_50495648 | 50488770 | G | GTCCCTCC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00733.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0097a0001c0004t0003g0098a0001c0004t0003g0099 | 3 | 436 | 0.0069 | 9 | c.409 others(24): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MIOX_chr22_50481859_50495648 | 50489018 | C | CGTCCCTC others(2): Show |
splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0011others(87): Show | 294 | 436 | 0.6743 | 9 | c.409 others(21): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MIPEP_chr13_23725189_23894400 | 23778713 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086a0001c0001t0001g0116a0001c0001t0001g0173others(1): Show | 4 | 306 | 0.0131 | 9 | c.184 others(30): Show |
MIPEP | ENSG00000027001.10 | transcript | ENST00000382172.4 | protein_coding | 16/18 | chr13 | TogoVar | ||||||
MIPEP_chr13_23725189_23894400 | 23831383 | C | CCGGGGGG others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01192.hp2 others(10): Show |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0001a0009c0008t0001 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0042others(10): Show | 13 | 306 | 0.0425 | 9 | c.165 others(28): Show |
MIPEP | ENSG00000027001.10 | transcript | ENST00000382172.4 | protein_coding | 14/18 | chr13 | TogoVar | ||||||
MISFA_chr11_18594789_18608883 | 18598594 | C | CACCTTAG others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(32): Show | 219 | 452 | 0.4845 | 9 | c.-13 others(20): Show |
MISFA | ENSG00000247595.5 | transcript | ENST00000635674.2 | protein_coding | 1194 | chr11 | TogoVar | ||||||
MKLN1_chr7_131322876_131501632 | 131376140 | G | GTATGTAT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG04199.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0090a0001c0001t0001g0098a0001c0001t0001g0154others(2): Show | 5 | 320 | 0.0156 | 9 | c.168 others(24): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
MKLN1_chr7_131322876_131501632 | 131400518 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18951.hp1 NA18955.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0007a0001c0001t0004g0006a0001c0001t0004g0026others(6): Show | 9 | 320 | 0.0281 | 9 | c.703 others(26): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MKLN1_chr7_131322876_131501632 | 131400518 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG01978.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0009others(15): Show | 19 | 320 | 0.0594 | 9 | c.703 others(26): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MKLN1_chr7_131322876_131501632 | 131400518 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG02040.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0054a0001c0003t0008 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0023others(5): Show | 9 | 320 | 0.0281 | 9 | c.703 others(26): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 6/17 | chr7 | TogoVar | ||||||
MKLN1_chr7_131322876_131501632 | 131411906 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01928.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0015others(3): Show | a0001c0001t0002g0218a0001c0001t0002g0239a0001c0001t0002g0242others(7): Show | 10 | 320 | 0.0313 | 9 | c.781 others(24): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MKNK1_chr1_46552407_46609268 | 46607371 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 HG03516.hp1 NA18952.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0139others(4): Show | 7 | 346 | 0.0202 | 9 | c.-33 others(20): Show |
MKNK1 | ENSG00000079277.22 | transcript | ENST00000371945.10 | protein_coding | 3104 | chr1 | TogoVar | ||||||
MKRN2_chr3_12552087_12588713 | 12569256 | G | GGTTCAAG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(170): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0031a0001c0001t0001g0033a0001c0001t0001g0153others(148): Show | 173 | 328 | 0.5274 | 9 | c.155 others(24): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MKRN2_chr3_12552087_12588713 | 12587837 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG01123.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(2): Show | a0001c0001t0002g0024a0001c0001t0002g0025a0001c0001t0002g0050others(22): Show | 27 | 328 | 0.0823 | 9 | c.*55 others(20): Show |
MKRN2 | ENSG00000075975.17 | transcript | ENST00000170447.12 | protein_coding | 4125 | chr3 | TogoVar | ||||||
MKRN3_chr15_23560674_23573044 | 23571465 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01978.hp1 HG02647.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0000a0001c0002t0001g0000 | 16 | 420 | 0.0381 | 9 | c.*41 others(20): Show |
MKRN3 | ENSG00000179455.10 | transcript | ENST00000314520.6 | protein_coding | 3422 | chr15 | TogoVar | ||||||
MKS1_chr17_58200441_58224255 | 58220451 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00597.hp1 others(29): Show |
a0001a0003a0007 | a0001c0001a0001c0006a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0002others(3): Show | a0001c0001t0001g0029a0001c0001t0001g0031a0001c0001t0001g0062others(18): Show | 32 | 326 | 0.0982 | 9 | c.-12 others(20): Show |
MKS1 | ENSG00000011143.19 | transcript | ENST00000393119.7 | protein_coding | 1197 | chr17 | TogoVar | ||||||
MKX_chr10_27667874_27750819 | 27694527 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01261.hp2 HG01516.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0003others(1): Show | a0001c0001t0001g0116a0001c0001t0001g0242a0001c0001t0001g0243others(10): Show | 13 | 354 | 0.0367 | 9 | c.839 others(28): Show |
MKX | ENSG00000150051.14 | transcript | ENST00000419761.6 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
MLC1_chr22_50054391_50090426 | 50090054 | G | GCGGCGGT others(2): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG00673.hp2 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0120a0001c0001t0002g0113a0001c0001t0002g0114others(16): Show | 20 | 212 | 0.0943 | 9 | c.-47 others(20): Show |
MLC1 | ENSG00000100427.16 | transcript | ENST00000311597.10 | protein_coding | 4629 | chr22 | TogoVar | ||||||
MLEC_chr12_120682149_120706859 | 120686118 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(170): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(22): Show | a0001c0001t0002g0005a0001c0001t0002g0009a0001c0001t0002g0011others(48): Show | 173 | 408 | 0.4240 | 9 | c.-11 others(20): Show |
MLEC | ENSG00000110917.8 | transcript | ENST00000228506.8 | protein_coding | 1030 | chr12 | TogoVar | ||||||
MLF1_chr3_158566194_158611456 | 158569411 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0002a0002c0005others(2): Show | a0001c0003t0010a0002c0002t0002a0002c0002t0004others(4): Show | a0001c0003t0010g0258a0001c0003t0010g0259a0002c0002t0002g0004others(28): Show | 35 | 380 | 0.0921 | 9 | c.-18 others(20): Show |
MLF1 | ENSG00000178053.21 | transcript | ENST00000466246.7 | protein_coding | 1782 | chr3 | TogoVar | ||||||
MLIP_chr6_54106443_54271280 | 54141312 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(54): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0003a0003c0002others(7): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(10): Show | a0001c0001t0001g0217a0002c0003t0001g0106a0002c0003t0001g0136others(50): Show | 57 | 248 | 0.2298 | 9 | c.221 others(28): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MLIP_chr6_54106443_54271280 | 54251660 | T | TTATATAT others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02809.hp2 HG02895.hp2 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0095a0006c0006t0001g0096a0006c0006t0001g0097 | 3 | 248 | 0.0121 | 9 | c.292 others(28): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 12/13 | chr6 | TogoVar | ||||||
MLIP_chr6_54106443_54271280 | 54252115 | A | ATATAAAT others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02809.hp2 HG02895.hp2 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0095a0006c0006t0001g0096a0006c0006t0001g0097 | 3 | 248 | 0.0121 | 9 | c.292 others(28): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 12/13 | chr6 | TogoVar | ||||||
MLIP_chr6_54106443_54271280 | 54252165 | A | ATATAAAT others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02809.hp2 HG02895.hp2 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0095a0006c0006t0001g0096a0006c0006t0001g0097 | 3 | 248 | 0.0121 | 9 | c.292 others(28): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 12/13 | chr6 | TogoVar | ||||||
MLIP_chr6_54106443_54271280 | 54252218 | A | ATATAAAT others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02809.hp2 HG02895.hp2 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0095a0006c0006t0001g0096a0006c0006t0001g0097 | 3 | 248 | 0.0121 | 9 | c.292 others(28): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 12/13 | chr6 | TogoVar | ||||||
MLIP_chr6_54106443_54271280 | 54254735 | T | TCCTCCCT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(48): Show |
a0001a0003a0004others(9): Show | a0001c0001a0003c0002a0004c0027others(9): Show | a0001c0001t0001a0003c0002t0001a0004c0027t0002others(9): Show | a0001c0001t0001g0033a0003c0002t0001g0001a0003c0002t0001g0002others(44): Show | 51 | 248 | 0.2057 | 9 | c.292 others(28): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MLLT10_chr10_21529232_21748630 | 21563791 | G | GTATTATT others(2): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0046a0001c0001t0007g0085 | 2 | 192 | 0.0104 | 9 | c.241 others(28): Show |
MLLT10 | ENSG00000078403.17 | transcript | ENST00000307729.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MLLT10_chr10_21529232_21748630 | 21717680 | C | CTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(3): Show | 6 | 192 | 0.0313 | 9 | c.187 others(28): Show |
MLLT10 | ENSG00000078403.17 | transcript | ENST00000307729.12 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |