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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIF1A_chr2_240708767_240825219 | 240786721 | AGGGGGTG others(62): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 HG02145.hp1 others(5): Show |
a0001a0002 | a0001c0005a0002c0054 | a0001c0005t0004a0001c0005t0007a0002c0054t0001 | a0001c0005t0004g0034a0001c0005t0004g0035a0001c0005t0004g0040others(5): Show | 8 | 330 | 0.0242 | -69 | c.430 others(84): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | ||||||
KNDC1_chr10_133155219_133231412 | 133185389 | ACAGTGTG others(62): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0028 | a0028c0044 | a0028c0044t0001 | a0028c0044t0001g0318 | 1 | 332 | 0.0030 | -69 | c.626 others(84): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 128881253 | GAGGCCAC others(62): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG02922.hp2 HG03098.hp2 |
a0003a0004a0006 | a0003c0059a0004c0041a0006c0007 | a0003c0059t0002a0004c0041t0004a0006c0007t0002 | a0003c0059t0002g0078a0004c0041t0004g0059a0006c0007t0002g0081 | 3 | 88 | 0.0341 | -69 | c.-19 others(80): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1884 | chr6 | TogoVar | ||||||
LATS2_chr13_20968036_21066586 | 21007600 | ATAGTGTG others(62): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0012 | a0012c0022 | a0012c0022t0004 | a0012c0022t0004g0007 | 1 | 316 | 0.0032 | -69 | c.343 others(88): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
LDHB_chr12_21630342_21662842 | 21652584 | GTAGTTAC others(62): Show |
G | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 326 | 0.0031 | -69 | c.129 others(86): Show |
LDHB | ENSG00000111716.14 | transcript | ENST00000350669.5 | protein_coding | 2/7 | chr12 | TogoVar | ||||||
LMNB2_chr19_2423166_2461959 | 2445591 | CACCCCAC others(62): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0303 | 1 | 356 | 0.0028 | -69 | c.265 others(86): Show |
LMNB2 | ENSG00000176619.13 | transcript | ENST00000325327.4 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
LPCAT1_chr5_1456427_1528960 | 1475817 | CGGCCCCG others(62): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0087a0001c0001t0021g0248 | 2 | 386 | 0.0052 | -69 | c.900 others(86): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 9/13 | chr5 | TogoVar | ||||||
LPCAT1_chr5_1456427_1528960 | 1505156 | CACTGCTT others(62): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0286 | 1 | 386 | 0.0026 | -69 | c.136 others(86): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
LPCAT1_chr5_1456427_1528960 | 1511410 | ATGGGGAT others(62): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03041.hp1 HG03195.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0004g0106a0001c0001t0005g0265a0001c0001t0007g0271others(3): Show | 6 | 386 | 0.0155 | -69 | c.136 others(86): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
LPP_chr3_188149157_188895671 | 188785466 | TATTCCAT others(62): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02922.hp2 |
a0002 | a0002c0007a0002c0014 | a0002c0007t0021a0002c0014t0065 | a0002c0007t0021g0063a0002c0014t0065g0009 | 2 | 76 | 0.0263 | -69 | c.141 others(90): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LRATD1_chr2_14627717_14645041 | 14640306 | TAAATACA others(62): Show |
T | downstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 412 | 0.0024 | -69 | c.*54 others(80): Show |
LRATD1 | ENSG00000162981.14 | transcript | ENST00000295092.3 | protein_coding | 266 | chr2 | TogoVar | ||||||
LSS_chr21_46183446_46233774 | 46183835 | GGAGACCA others(62): Show |
G | downstream_gene_variant | MODIFIER | NA19072.hp1 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0081 | 1 | 358 | 0.0028 | -69 | c.*72 others(80): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 4610 | chr21 | TogoVar | ||||||
LYPD2_chr8_142745150_142757532 | 142754768 | CAGGAGCA others(62): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(148): Show |
a0001a0007a0008 | a0001c0001a0007c0008a0008c0007 | a0001c0001t0001a0007c0008t0001a0008c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(5): Show | 151 | 396 | 0.3813 | -69 | c.-23 others(80): Show |
LYPD2 | ENSG00000197353.4 | transcript | ENST00000359228.4 | protein_coding | 2237 | chr8 | TogoVar | ||||||
LYPD8_chr1_248734415_248760759 | 248742743 | GGGAGATT others(62): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02723.hp1 HG02970.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0005t0001 | a0001c0001t0001g0135a0001c0001t0001g0186a0001c0001t0001g0187others(4): Show | 8 | 374 | 0.0214 | -69 | c.475 others(86): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39477049 | ATATATAT others(62): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0030 | a0030c0060 | a0030c0060t0001 | a0030c0060t0001g0241 | 1 | 246 | 0.0041 | -69 | c.219 others(90): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 97/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAD1L1_chr7_1810795_2237945 | 1902826 | AAGGATGC others(62): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0001g0250 | 3 | 264 | 0.0114 | -69 | c.180 others(88): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 2171715 | CTGGAGGG others(62): Show |
C | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 264 | 0.0038 | -69 | c.987 others(88): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 10/18 | chr7 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142044126 | GTATAATA others(62): Show |
G | intron_variant | MODIFIER | HG04184.hp1 | a0019 | a0019c0035 | a0019c0035t0001 | a0019c0035t0001g0083 | 1 | 316 | 0.0032 | -69 | c.249 others(88): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MGMT_chr10_129462241_129775983 | 129719099 | TGTGTCAC others(62): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0167 | 1 | 194 | 0.0052 | -69 | c.274 others(88): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MIER2_chr19_300573_349796 | 303630 | ATCAGACT others(62): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0054others(21): Show | 26 | 384 | 0.0677 | -69 | c.*29 others(80): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 1942 | chr19 | TogoVar | ||||||
MIER2_chr19_300573_349796 | 304010 | ACACCTCA others(62): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0089 | 1 | 384 | 0.0026 | -69 | c.*26 others(80): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 1562 | chr19 | TogoVar | ||||||
MIER2_chr19_300573_349796 | 312395 | AGCCACCT others(62): Show |
A | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 384 | 0.0026 | -69 | c.808 others(84): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 8/13 | chr19 | TogoVar | ||||||
MIER2_chr19_300573_349796 | 312533 | GGCCACCT others(62): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01106.hp1 others(15): Show |
a0001 | a0001c0003a0001c0011a0001c0022 | a0001c0003t0002a0001c0011t0002a0001c0022t0002 | a0001c0003t0002g0014a0001c0003t0002g0131a0001c0003t0002g0132others(14): Show | 18 | 384 | 0.0469 | -69 | c.808 others(84): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 8/13 | chr19 | TogoVar | ||||||
MIER2_chr19_300573_349796 | 313044 | ACATCAGG others(62): Show |
A | intron_variant | MODIFIER | HG03195.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218a0001c0001t0001g0326 | 2 | 384 | 0.0052 | -69 | c.807 others(84): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 8/13 | chr19 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237542751 | GGAGGGAC others(62): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0005 | a0005c0004 | a0005c0004t0004 | a0005c0004t0004g0087 | 1 | 286 | 0.0035 | -69 | c.153 others(85): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543888 | TGGGGACA others(62): Show |
T | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 286 | 0.0035 | -69 | c.153 others(88): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543938 | TGGGGGGA others(62): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0015 | a0001c0015t0008 | a0001c0015t0008g0141 | 1 | 286 | 0.0035 | -69 | c.153 others(88): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543959 | GGGACAGT others(62): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02897.hp2 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0005 | a0003c0003t0001g0264a0003c0003t0005g0265 | 2 | 286 | 0.0070 | -69 | c.153 others(88): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543973 | TGGGGGAC others(62): Show |
T | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098a0001c0001t0002g0099 | 2 | 286 | 0.0070 | -69 | c.153 others(88): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MPP4_chr2_201639874_201703644 | 201685208 | CTCAATCA others(62): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0007a0001c0016others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0011others(258): Show | 270 | 416 | 0.6490 | -69 | c.493 others(83): Show |
MPP4 | ENSG00000082126.18 | transcript | ENST00000409474.8 | protein_coding | 6/21 | chr2 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43496277 | ATGGTGGT others(62): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02622.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0005g0229others(14): Show | 17 | 250 | 0.0680 | -69 | c.633 others(86): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43496808 | GTGGTGGT others(62): Show |
G | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 250 | 0.0040 | -69 | c.633 others(86): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MRPL45_chr17_38292168_38328211 | 38313306 | AAAAAAAT others(62): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01070.hp1 HG01071.hp1 others(6): Show |
a0003a0006 | a0003c0005a0006c0007 | a0003c0005t0001a0006c0007t0001 | a0003c0005t0001g0016a0003c0005t0001g0255a0003c0005t0001g0257others(5): Show | 9 | 287 | 0.0314 | -69 | c.462 others(86): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80691963 | ATATGTTT others(62): Show |
A | intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0204 | 1 | 362 | 0.0028 | -69 | c.134 others(90): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH4_chr1_75791882_75918242 | 75867362 | AATTTTGT others(62): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02647.hp2 others(6): Show |
a0003a0009 | a0003c0005a0009c0011 | a0003c0005t0001a0009c0011t0001 | a0003c0005t0001g0169a0003c0005t0001g0170a0003c0005t0001g0171others(6): Show | 9 | 332 | 0.0271 | -69 | c.123 others(85): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MUC7_chr4_70467197_70487997 | 70481421 | CATCTTCC others(62): Show |
C | disruptive_inframe_deletion | MODERATE | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(66): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0004a0003c0003t0002g0006a0003c0003t0002g0022others(6): Show | 69 | 436 | 0.1583 | -69 | c.710 others(76): Show |
p.Ala others(13): Show |
MUC7 | ENSG00000171195.11 | transcript | ENST00000304887.6 | protein_coding | 3/3 | 820/2363 | 710/1134 | 237/377 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
MUC7_chr4_70467197_70487997 | 70481495 | TCCTCAGC others(62): Show |
T | disruptive_inframe_deletion | MODERATE | HG01891.hp1 HG02258.hp2 HG02630.hp1 others(2): Show |
a0006a0007 | a0006c0005a0007c0006 | a0006c0005t0010a0007c0006t0012 | a0006c0005t0010g0019a0006c0005t0010g0029a0007c0006t0012g0018 | 5 | 436 | 0.0115 | -69 | c.779 others(76): Show |
p.Val others(13): Show |
MUC7 | ENSG00000171195.11 | transcript | ENST00000304887.6 | protein_coding | 3/3 | 889/2363 | 779/1134 | 260/377 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
MYH10_chr17_8469224_8635725 | 8481076 | CCCTGCGG others(62): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(249): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0014a0001c0001t0001g0021a0001c0001t0001g0022others(249): Show | 252 | 274 | 0.9197 | -69 | c.526 others(86): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 38/42 | chr17 | TogoVar | ||||||
MYL6B_chr12_56147587_56162982 | 56155277 | CTCAGGAC others(62): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 360 | 0.0028 | -69 | c.346 others(82): Show |
MYL6B | ENSG00000196465.11 | transcript | ENST00000695999.1 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO10_chr5_16656907_16941288 | 16932166 | CTTTCTGT others(62): Show |
C | intron_variant | MODIFIER | HG01981.hp1 | a0003 | a0003c0006 | a0003c0006t0024 | a0003c0006t0024g0150 | 1 | 272 | 0.0037 | -69 | c.21+ others(84): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543828 | GTGGTGGT others(62): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0105 | 2 | 342 | 0.0059 | -69 | c.152 others(86): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYPN_chr10_68104488_68217017 | 68182252 | CACATATA others(62): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0052 | a0003c0052t0002 | a0003c0052t0002g0300 | 1 | 306 | 0.0033 | -69 | c.270 others(88): Show |
MYPN | ENSG00000138347.17 | transcript | ENST00000358913.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYPN_chr10_68104488_68217017 | 68182291 | ATAACATA others(62): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00642.hp2 others(36): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0003a0001c0024others(5): Show | a0001c0001t0003a0001c0003t0001a0001c0003t0002others(8): Show | a0001c0001t0003g0118a0001c0001t0003g0183a0001c0001t0003g0299others(35): Show | 39 | 306 | 0.1275 | -69 | c.270 others(88): Show |
MYPN | ENSG00000138347.17 | transcript | ENST00000358913.10 | protein_coding | 12/19 | chr10 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1996914 | TGCCTTTA others(62): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0092 | 1 | 104 | 0.0096 | -69 | c.-1+ others(82): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 5/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2235350 | GAGCTTCC others(62): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp2 others(54): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(38): Show | a0001c0001t0001g0025a0001c0001t0001g0030a0001c0001t0001g0049others(54): Show | 57 | 104 | 0.5481 | -69 | c.-42 others(90): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | ||||||
NAA25_chr12_112021689_112113783 | 112100160 | ACATTTGC others(62): Show |
A | intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0142 | 1 | 342 | 0.0029 | -69 | c.59- others(84): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 1/23 | chr12 | TogoVar | ||||||
NACA_chr12_56707427_56730299 | 56717735 | AGTGGGGG others(62): Show |
A | disruptive_inframe_deletion | MODERATE | HG00323.hp2 HG01891.hp1 HG01978.hp2 others(15): Show |
a0004a0011a0024others(2): Show | a0004c0006a0004c0010a0011c0014others(3): Show | a0004c0006t0001a0004c0010t0001a0011c0014t0001others(3): Show | a0004c0006t0001g0010a0004c0006t0001g0035a0004c0006t0001g0036others(7): Show | 18 | 366 | 0.0492 | -69 | c.372 others(78): Show |
p.Thr others(15): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 3/9 | 3833/6387 | 3726/6237 | 1242/2078 | chr12 | TogoVar | ||
NACA_chr12_56707427_56730299 | 56717768 | GCCTCCTT others(62): Show |
G | disruptive_inframe_deletion | MODERATE | HG01167.hp1 HG01169.hp1 |
a0018 | a0018c0016 | a0018c0016t0001 | a0018c0016t0001g0031 | 2 | 366 | 0.0055 | -69 | c.369 others(78): Show |
p.Leu others(15): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 3/9 | 3800/6387 | 3693/6237 | 1231/2078 | chr12 | TogoVar | ||
NACA_chr12_56707427_56730299 | 56717834 | CAGACCTC others(62): Show |
C | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG01123.hp2 HG01433.hp2 others(14): Show |
a0005a0021a0031others(2): Show | a0005c0003a0021c0022a0031c0027others(2): Show | a0005c0003t0001a0021c0022t0001a0031c0027t0001others(2): Show | a0005c0003t0001g0005a0005c0003t0001g0012a0021c0022t0001g0029others(3): Show | 17 | 366 | 0.0465 | -69 | c.362 others(78): Show |
p.Ala others(15): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 3/9 | 3734/6387 | 3627/6237 | 1209/2078 | chr12 | TogoVar | ||
NACA_chr12_56707427_56730299 | 56718096 | GGGGGTGG others(62): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(186): Show |
a0001a0008a0009others(16): Show | a0001c0001a0001c0017a0001c0029others(19): Show | a0001c0001t0001a0001c0017t0001a0001c0029t0001others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(39): Show | 189 | 366 | 0.5164 | -69 | c.336 others(78): Show |
p.His others(15): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 3/9 | 3472/6387 | 3365/6237 | 1122/2078 | chr12 | TogoVar |