Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MBTPS1_chr16_84048763_84121942	84052010	G G	GCAAGGCC others(22): Show GCAAGGCCGGCATGTGGGTAAGGAGAGCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 NA19240.hp1 HG01515.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0007 a0001c0001t0003 a0001c0004t0007	a0001c0001t0003g0367 a0001c0004t0007g0155 a0001c0001t0003g0367 a0001c0004t0007g0155	2	424	0.0047	29	c.24 others(40): Show c.2438_*2439insTAGCTCTCCTTACCCACATGCCGGCCTTG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		1752		chr16	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG03098.hp2 HG03453.hp1 others(3): Show HG02080.hp2 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	428	0.0140	29	c.-25 others(40): Show c.-2544_-2543insAAAAAAAAATATATATATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	428	0.0023	29	c.-25 others(40): Show c.-2544_-2543insAAAAAAAAAAATATATATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	428	0.0023	29	c.-25 others(40): Show c.-2544_-2543insAAAAAAAAAAAAAAATATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCEE_chr2_71104687_71135229	71125211	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03669.hp1 HG00738.hp2 HG03669.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0205 a0003c0003t0001g0206	2	418	0.0048	29	c.41- others(42): Show c.41-669_41-668insAAAAAAAAAAATATATATATATATATATA	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding	1/2			chr2	TogoVar
MCEE_chr2_71104687_71135229	71125211	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0221 a0003c0003t0001g0221	1	418	0.0024	29	c.41- others(42): Show c.41-669_41-668insAAAAAAAAAAAAAAATATATATATATATA	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding	1/2			chr2	TogoVar
MCF2L_chr13_112964214_113104742	113061715	C C	CCTCCCTC others(22): Show CCTCCCTCTTCCCTTTCCCCTCCCTTCCCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03195.hp2 HG02074.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0082 a0001c0003t0002g0047 a0001c0001t0001g0082 a0001c0003t0002g0047	2	116	0.0172	29	c.489 others(46): Show c.489+1008_489+1009insTCTTCCCTTTCCCCTCCCTTCCCTCTCC C	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCM3AP_chr21_46230133_46290611	46247481	A A	ATTCAAGC others(22): Show ATTCAAGCAATTCTCCTGCCTCACCCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(356): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021	a0001c0001 a0001c0002 a0001c0004 others(38): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0013 a0001c0016 a0001c0017 a0001c0022 a0001c0027 a0001c0031 a0001c0033 a0001c0034 a0001c0035 a0002c0003 a0002c0040 a0002c0041 a0003c0011 a0003c0026 a0004c0008 a0005c0010 a0006c0015 a0007c0014 a0008c0019 a0009c0018 a0010c0029 a0010c0038 a0011c0039 a0012c0020 a0013c0037 a0014c0025 a0015c0024 a0016c0036 a0017c0028 a0018c0030 a0019c0021 a0020c0032 a0021c0023	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(39): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0005t0002 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0012t0002 a0001c0013t0001 a0001c0016t0002 a0001c0017t0001 a0001c0022t0001 a0001c0027t0002 a0001c0031t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0002c0003t0001 a0002c0040t0001 a0002c0041t0001 a0003c0011t0002 a0003c0026t0002 a0004c0008t0001 a0005c0010t0002 a0006c0015t0001 a0007c0014t0001 a0008c0019t0001 a0009c0018t0001 a0010c0029t0002 a0010c0038t0002 a0011c0039t0001 a0012c0020t0001 a0013c0037t0002 a0014c0025t0002 a0015c0024t0002 a0016c0036t0001 a0017c0028t0002 a0018c0030t0002 a0019c0021t0001 a0020c0032t0001 a0021c0023t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(330): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0002t0001g0043 a0001c0002t0002g0004 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0021 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0004t0001g0134 a0001c0004t0001g0135 a0001c0004t0001g0136 a0001c0004t0001g0137 a0001c0004t0001g0138 a0001c0004t0001g0139 a0001c0004t0001g0140 a0001c0004t0001g0141 a0001c0004t0001g0142 a0001c0004t0001g0143 a0001c0004t0001g0144 a0001c0004t0001g0145 a0001c0004t0001g0146 a0001c0004t0001g0147 a0001c0004t0001g0148 a0001c0004t0001g0149 a0001c0004t0001g0150 a0001c0004t0001g0151 a0001c0004t0001g0152 a0001c0004t0001g0153 a0001c0004t0001g0154 a0001c0004t0001g0155 a0001c0005t0002g0020 a0001c0005t0002g0303 a0001c0005t0002g0304 a0001c0005t0002g0305 a0001c0005t0002g0306 a0001c0005t0002g0307 a0001c0005t0002g0308 a0001c0005t0002g0309 a0001c0005t0002g0310 a0001c0005t0002g0311 a0001c0005t0002g0312 a0001c0005t0002g0313 a0001c0005t0002g0315 a0001c0005t0002g0316 a0001c0005t0002g0317 a0001c0005t0002g0318 a0001c0005t0002g0319 a0001c0005t0002g0325 a0001c0005t0002g0326 a0001c0005t0002g0327 a0001c0006t0001g0122 a0001c0006t0001g0123 a0001c0006t0001g0124 a0001c0006t0001g0125 a0001c0006t0001g0126 a0001c0006t0001g0127 a0001c0006t0001g0128 a0001c0006t0001g0129 a0001c0006t0001g0130 a0001c0006t0001g0131 a0001c0006t0001g0132 a0001c0006t0001g0133 a0001c0007t0001g0011 a0001c0007t0001g0156 a0001c0007t0001g0157 a0001c0007t0001g0158 a0001c0007t0001g0159 a0001c0007t0001g0160 a0001c0007t0001g0161 a0001c0007t0001g0162 a0001c0009t0001g0008 a0001c0009t0001g0073 a0001c0009t0001g0074 a0001c0012t0002g0330 a0001c0012t0002g0331 a0001c0012t0002g0333 a0001c0012t0002g0334 a0001c0013t0001g0228 a0001c0013t0001g0229 a0001c0013t0001g0230 a0001c0013t0001g0231 a0001c0016t0002g0252 a0001c0016t0002g0279 a0001c0017t0001g0061 a0001c0017t0001g0062 a0001c0022t0001g0041 a0001c0027t0002g0300 a0001c0031t0001g0052 a0001c0033t0001g0075 a0001c0034t0001g0045 a0001c0035t0001g0030 a0002c0003t0001g0003 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0178 a0002c0003t0001g0179 a0002c0003t0001g0180 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0189 a0002c0003t0001g0190 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0001g0198 a0002c0003t0001g0199 a0002c0003t0001g0200 a0002c0003t0001g0201 a0002c0003t0001g0202 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0001g0216 a0002c0003t0001g0217 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0001g0227 a0002c0040t0001g0207 a0002c0041t0001g0177 a0003c0011t0002g0232 a0003c0011t0002g0233 a0003c0011t0002g0234 a0003c0011t0002g0299 a0003c0026t0002g0235 a0004c0008t0001g0027 a0004c0008t0001g0029 a0004c0008t0001g0070 a0004c0008t0001g0071 a0005c0010t0002g0239 a0005c0010t0002g0240 a0005c0010t0002g0241 a0005c0010t0002g0242 a0006c0015t0001g0170 a0006c0015t0001g0171 a0006c0015t0001g0172 a0007c0014t0001g0082 a0007c0014t0001g0090 a0007c0014t0001g0091 a0008c0019t0001g0163 a0008c0019t0001g0164 a0009c0018t0001g0009 a0010c0029t0002g0246 a0010c0038t0002g0332 a0011c0039t0001g0186 a0012c0020t0001g0022 a0013c0037t0002g0329 a0014c0025t0002g0254 a0015c0024t0002g0253 a0016c0036t0001g0048 a0017c0028t0002g0328 a0018c0030t0002g0267 a0019c0021t0001g0072 a0020c0032t0001g0053 a0021c0023t0002g0314	359	360	0.9972	29	c.429 others(46): Show c.4291-596_4291-595insGGGAGGGTGAGGCAGGAGAATTGCTTGA A	MCM3AP	ENSG00000160294.11	transcript	ENST00000291688.6	protein_coding	20/27			chr21	TogoVar
MCPH1_chr8_6401627_6653508	6505179	T T	TATATATA others(22): Show TATATATATATATTCTTATGTATATATAGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00609.hp2 others(14): Show HG00423.hp2 HG00558.hp2 HG00609.hp2 HG01433.hp1 HG02523.hp2 HG03942.hp2 NA18952.hp1 NA18966.hp1 NA18971.hp1 NA18982.hp1 NA18986.hp2 NA18988.hp2 NA18999.hp1 NA19007.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0032	a0001c0001 a0002c0002 a0002c0008 others(6): Show a0001c0001 a0002c0002 a0002c0008 a0003c0005 a0004c0006 a0005c0004 a0007c0035 a0009c0075 a0032c0095	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0046 a0002c0002t0002 a0002c0002t0008 a0002c0008t0001 a0002c0008t0002 a0003c0005t0006 a0004c0006t0008 a0005c0004t0060 a0007c0035t0003 a0009c0075t0047 a0032c0095t0002	a0001c0001t0001g0183 a0001c0001t0002g0020 a0001c0001t0002g0172 others(14): Show a0001c0001t0001g0183 a0001c0001t0002g0020 a0001c0001t0002g0172 a0001c0001t0012g0014 a0001c0001t0046g0179 a0002c0002t0002g0182 a0002c0002t0008g0011 a0002c0002t0008g0066 a0002c0002t0008g0071 a0002c0008t0001g0171 a0002c0008t0002g0073 a0003c0005t0006g0187 a0004c0006t0008g0083 a0005c0004t0060g0098 a0007c0035t0003g0029 a0009c0075t0047g0079 a0032c0095t0002g0027	17	262	0.0649	29	c.221 others(48): Show c.2214+5263_2214+5291dupTCTTATGTATATATAGAATATATATA TAT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6568234	C C	CGTGGACC others(22): Show CGTGGACCCATCGCTAGCTGAATGTGGAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02486.hp2 others(4): Show HG01884.hp1 HG02109.hp2 HG02486.hp2 HG03098.hp2 HG03453.hp1 NA18906.hp1 NA18906.hp2	a0001 a0006 a0008 others(3): Show a0001 a0006 a0008 a0009 a0010 a0013	a0001c0033 a0006c0009 a0006c0012 others(4): Show a0001c0033 a0006c0009 a0006c0012 a0008c0054 a0009c0093 a0010c0046 a0013c0042	a0001c0033t0004 a0006c0009t0004 a0006c0012t0061 others(4): Show a0001c0033t0004 a0006c0009t0004 a0006c0012t0061 a0008c0054t0042 a0009c0093t0077 a0010c0046t0004 a0013c0042t0004	a0001c0033t0004g0209 a0006c0009t0004g0060 a0006c0012t0061g0059 others(4): Show a0001c0033t0004g0209 a0006c0009t0004g0060 a0006c0012t0061g0059 a0008c0054t0042g0233 a0009c0093t0077g0254 a0010c0046t0004g0229 a0013c0042t0004g0033	7	262	0.0267	29	c.221 others(50): Show c.2215-53162_2215-53134dupTGTGGACCCATCGCTAGCTGAATG TGGAA	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6648888	T T	TACAGAAC others(22): Show TACAGAACAGGTGACTAAGGATGACTAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02922.hp2 HG03579.hp2 others(4): Show HG02622.hp1 HG02922.hp2 HG03579.hp2 HG04204.hp1 NA18522.hp1 NA19055.hp1 NA19079.hp2	a0003 a0009 a0019 others(2): Show a0003 a0009 a0019 a0022 a0027	a0003c0005 a0009c0037 a0009c0070 others(4): Show a0003c0005 a0009c0037 a0009c0070 a0019c0057 a0022c0076 a0022c0077 a0027c0082	a0003c0005t0017 a0009c0037t0072 a0009c0070t0029 others(4): Show a0003c0005t0017 a0009c0037t0072 a0009c0070t0029 a0019c0057t0071 a0022c0076t0007 a0022c0077t0017 a0027c0082t0016	a0003c0005t0017g0184 a0009c0037t0072g0253 a0009c0070t0029g0031 others(4): Show a0003c0005t0017g0184 a0009c0037t0072g0253 a0009c0070t0029g0031 a0019c0057t0071g0216 a0022c0076t0007g0002 a0022c0077t0017g0004 a0027c0082t0016g0058	7	262	0.0267	29	c.58 others(40): Show c.5839_*5840insACAGAACAGGTGACTAAGGATGACTAAGG	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding		381		chr8	TogoVar
MCPH1_chr8_6401627_6653508	6648913	T T	TAAGGACA others(22): Show TAAGGACAGAACAGGTGACTAAGGATGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0007 a0014c0024t0007	a0014c0024t0007g0080 a0014c0024t0007g0080	1	262	0.0038	29	c.58 others(40): Show c.5864_*5865insAAGGACAGAACAGGTGACTAAGGATGACC	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding		406		chr8	TogoVar
MCPH1_chr8_6401627_6653508	6648942	G G	GAAGGACA others(22): Show GAAGGACAGAACAGGTGACTAAGGATGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0066 a0003c0005t0066	a0003c0005t0066g0177 a0003c0005t0066g0177	1	262	0.0038	29	c.58 others(40): Show c.5893_*5894insAAGGACAGAACAGGTGACTAAGGATGACT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding		435		chr8	TogoVar
MCPH1_chr8_6401627_6653508	6649311	T T	TACAAAAC others(22): Show TACAAAACAGGTGACTAAGGGTGATTAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0008 a0008	a0008c0054 a0008c0054	a0008c0054t0042 a0008c0054t0042	a0008c0054t0042g0233 a0008c0054t0042g0233	1	262	0.0038	29	c.62 others(40): Show c.6262_*6263insACAAAACAGGTGACTAAGGGTGATTAAGG	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding		804		chr8	TogoVar
MCPH1_chr8_6401627_6653508	6649311	T T	TACAGAAC others(22): Show TACAGAACAGGTGACTAAGGGTGATTAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00639.hp2 others(108): Show HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18956.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp2 NA18988.hp1 NA19007.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19079.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(34): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0036 a0037 a0038 a0039 a0041 a0042 a0043 a0044	a0001c0001 a0001c0007 a0001c0021 others(62): Show a0001c0001 a0001c0007 a0001c0021 a0001c0022 a0001c0033 a0001c0064 a0001c0088 a0002c0002 a0002c0030 a0002c0034 a0003c0003 a0003c0005 a0003c0016 a0003c0065 a0003c0066 a0004c0010 a0005c0004 a0006c0009 a0006c0012 a0006c0027 a0007c0013 a0007c0085 a0008c0052 a0008c0053 a0009c0037 a0009c0070 a0009c0093 a0010c0044 a0010c0046 a0011c0011 a0011c0096 a0012c0015 a0013c0017 a0013c0041 a0013c0042 a0014c0024 a0015c0045 a0015c0049 a0016c0063 a0017c0073 a0017c0074 a0017c0092 a0019c0059 a0020c0028 a0021c0019 a0022c0076 a0022c0077 a0023c0078 a0024c0098 a0025c0038 a0026c0032 a0027c0081 a0027c0082 a0028c0018 a0029c0058 a0029c0060 a0030c0043 a0036c0071 a0037c0068 a0038c0091 a0039c0087 a0041c0083 a0042c0061 a0043c0055 a0044c0039	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(81): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0024 a0001c0001t0030 a0001c0001t0056 a0001c0007t0001 a0001c0007t0004 a0001c0021t0001 a0001c0022t0001 a0001c0022t0005 a0001c0033t0004 a0001c0064t0004 a0001c0088t0009 a0002c0002t0001 a0002c0002t0011 a0002c0030t0001 a0002c0034t0016 a0003c0003t0006 a0003c0005t0006 a0003c0005t0017 a0003c0005t0066 a0003c0016t0007 a0003c0016t0017 a0003c0016t0065 a0003c0065t0006 a0003c0066t0007 a0004c0010t0053 a0005c0004t0001 a0006c0009t0002 a0006c0009t0004 a0006c0012t0009 a0006c0012t0061 a0006c0027t0011 a0007c0013t0026 a0007c0013t0028 a0007c0085t0026 a0008c0052t0043 a0008c0053t0005 a0009c0037t0004 a0009c0070t0029 a0009c0093t0077 a0010c0044t0004 a0010c0046t0004 a0011c0011t0001 a0011c0096t0001 a0012c0015t0006 a0013c0017t0040 a0013c0041t0004 a0013c0042t0004 a0014c0024t0007 a0014c0024t0067 a0015c0045t0007 a0015c0049t0007 a0016c0063t0004 a0017c0073t0054 a0017c0074t0004 a0017c0092t0004 a0019c0059t0036 a0020c0028t0022 a0021c0019t0016 a0021c0019t0044 a0022c0076t0007 a0022c0077t0017 a0023c0078t0001 a0024c0098t0001 a0025c0038t0074 a0025c0038t0075 a0026c0032t0024 a0027c0081t0048 a0027c0082t0016 a0028c0018t0009 a0028c0018t0015 a0029c0058t0025 a0029c0060t0007 a0030c0043t0004 a0036c0071t0025 a0037c0068t0055 a0038c0091t0032 a0039c0087t0004 a0041c0083t0007 a0042c0061t0076 a0043c0055t0027 a0044c0039t0015	a0001c0001t0001g0007 a0001c0001t0001g0154 a0001c0001t0001g0155 others(108): Show a0001c0001t0001g0007 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0174 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0250 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0005g0008 a0001c0001t0012g0010 a0001c0001t0012g0014 a0001c0001t0024g0260 a0001c0001t0030g0123 a0001c0001t0056g0038 a0001c0007t0001g0124 a0001c0007t0001g0132 a0001c0007t0001g0136 a0001c0007t0001g0138 a0001c0007t0004g0135 a0001c0021t0001g0217 a0001c0021t0001g0218 a0001c0022t0001g0248 a0001c0022t0005g0105 a0001c0033t0004g0036 a0001c0033t0004g0209 a0001c0064t0004g0242 a0001c0088t0009g0161 a0002c0002t0001g0198 a0002c0002t0011g0037 a0002c0030t0001g0128 a0002c0034t0016g0164 a0003c0003t0006g0156 a0003c0005t0006g0012 a0003c0005t0006g0108 a0003c0005t0006g0170 a0003c0005t0006g0180 a0003c0005t0017g0184 a0003c0005t0066g0177 a0003c0016t0007g0130 a0003c0016t0017g0137 a0003c0016t0065g0125 a0003c0065t0006g0249 a0003c0066t0007g0243 a0004c0010t0053g0094 a0005c0004t0001g0091 a0005c0004t0001g0244 a0006c0009t0002g0061 a0006c0009t0002g0063 a0006c0009t0004g0060 a0006c0009t0004g0226 a0006c0012t0009g0055 a0006c0012t0009g0056 a0006c0012t0009g0057 a0006c0012t0061g0059 a0006c0027t0011g0225 a0007c0013t0026g0208 a0007c0013t0028g0147 a0007c0013t0028g0148 a0007c0085t0026g0133 a0008c0052t0043g0240 a0008c0053t0005g0236 a0009c0037t0004g0252 a0009c0070t0029g0031 a0009c0093t0077g0254 a0010c0044t0004g0219 a0010c0046t0004g0229 a0011c0011t0001g0048 a0011c0011t0001g0115 a0011c0011t0001g0247 a0011c0096t0001g0139 a0012c0015t0006g0001 a0012c0015t0006g0003 a0013c0017t0040g0035 a0013c0041t0004g0034 a0013c0042t0004g0033 a0014c0024t0007g0080 a0014c0024t0067g0104 a0015c0045t0007g0116 a0015c0049t0007g0241 a0016c0063t0004g0259 a0017c0073t0054g0111 a0017c0074t0004g0112 a0017c0092t0004g0251 a0019c0059t0036g0223 a0020c0028t0022g0040 a0020c0028t0022g0041 a0021c0019t0016g0053 a0021c0019t0044g0052 a0022c0076t0007g0002 a0022c0077t0017g0004 a0023c0078t0001g0119 a0024c0098t0001g0042 a0025c0038t0074g0044 a0025c0038t0075g0043 a0026c0032t0024g0213 a0027c0081t0048g0047 a0027c0082t0016g0058 a0028c0018t0009g0114 a0028c0018t0015g0113 a0029c0058t0025g0224 a0029c0060t0007g0215 a0030c0043t0004g0221 a0036c0071t0025g0230 a0037c0068t0055g0101 a0038c0091t0032g0122 a0039c0087t0004g0141 a0041c0083t0007g0062 a0042c0061t0076g0039 a0043c0055t0027g0214 a0044c0039t0015g0064	111	262	0.4237	29	c.62 others(40): Show c.6262_*6263insACAGAACAGGTGACTAAGGGTGATTAAGG	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding		804		chr8	TogoVar
MCRIP1_chr17_81817361_81838291	81817579	G G	GGGGTCCT others(22): Show GGGGTCCTCCCCCTGCACTCACTCAGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG03041.hp2 NA21309.hp2 HG02895.hp2 HG03041.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0054 a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0054	3	366	0.0082	29	c.56 others(40): Show c.5667_*5668insGGGGCTGAGTGAGTGCAGGGGGAGGACCC	MCRIP1	ENSG00000225663.8	transcript	ENST00000455127.7	protein_coding		4781		chr17	TogoVar
MCTP1_chr5_94698690_95290094	94752108	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	98	0.0102	29	c.261 others(50): Show c.2610+27001_2610+27002insATATATATATATATATATATATAT ATATA	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	19/22			chr5	TogoVar
MDM4_chr1_204511406_204563120	204551461	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0135	a0001c0001t0135g0050 a0001c0001t0135g0050	1	372	0.0027	29	c.17 others(40): Show c.1780_*1808dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MDM4	ENSG00000198625.14	transcript	ENST00000367182.8	protein_coding	11/11	1809	INFO_REALIGN_3_PRIME	chr1	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19003.hp1 HG02165.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0198 a0001c0001t0001g0185 a0001c0001t0001g0198	2	290	0.0069	29	c.139 others(48): Show c.13956+748_13956+749insAAAAAAAAAAAAAAATATATATATAT ATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(22): Show ATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	290	0.0035	29	c.139 others(48): Show c.13956+748_13956+749insAAAAAAAAAAAAAAAAATATATATAT ATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(22): Show ATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18983.hp1 NA19077.hp2 HG00609.hp1 NA18983.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0262 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0262	3	290	0.0103	29	c.139 others(48): Show c.13956+748_13956+749insAAAAAAAAAAAAAAAAAAATATATAT ATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
ME1_chr6_83205402_83436051	83283227	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp2 NA19030.hp1 HG02717.hp2 HG02818.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0015 a0001c0003t0004g0018 a0001c0003t0004g0184 a0001c0003t0001g0015 a0001c0003t0004g0018 a0001c0003t0004g0184	3	272	0.0110	29	c.705 others(48): Show c.705-29490_705-29489insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357902	C C	CTCTCTCT others(22): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	272	0.0037	29	c.363 others(46): Show c.363-5764_363-5763insAGAGAGAGAGAGAGAGAGAGAGAGAGAG A	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME2_chr18_50874118_50959257	50893124	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	342	0.0029	29	c.-12 others(46): Show c.-12-2657_-12-2656insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
ME3_chr11_86436108_86677616	86560773	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0209 a0002c0004t0003g0209	1	320	0.0031	29	c.184 others(44): Show c.184-951_184-950insTATATATATATATATATATATATATATAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MECR_chr1_29187657_29235934	29188036	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAGACTCTGTCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	384	0.0026	29	c.59 others(40): Show c.5985_*5986insTTGAGACAGAGTCTTTTTTTTTTTTTTTT	MECR	ENSG00000116353.16	transcript	ENST00000263702.11	protein_coding		4620		chr1	TogoVar
MED12L_chr3_151080664_151441653	151141180	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTTTTTTTGTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	280	0.0036	29	c.556 others(48): Show c.556+13202_556+13203insTTTTTTTTTTTTTTGTTTTTTTGTTT TTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151151031	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0002 a0001c0019t0002	a0001c0019t0002g0024 a0001c0019t0002g0024	1	280	0.0036	29	c.557 others(46): Show c.557-5107_557-5106insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED13L_chr12_115953576_116282693	116096354	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0244 a0001c0004t0001g0244	1	254	0.0039	29	c.479 others(44): Show c.479+314_479+315insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116148051	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0148 a0001c0012t0001g0148	1	254	0.0039	29	c.311 others(48): Show c.311-36540_311-36539insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED27_chr9_131855112_132084867	131966383	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp1 NA18985.hp1 others(1): Show HG02559.hp2 HG02647.hp1 NA18985.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0234 others(1): Show a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0234 a0001c0001t0001g0246	4	274	0.0146	29	c.480 others(48): Show c.480-26910_480-26909insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MEF2B_chr19_19140567_19175263	19174385	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0121 a0002c0004t0001g0121	1	404	0.0025	29	c.-42 others(40): Show c.-4211_-4210insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MEF2B	ENSG00000213999.17	transcript	ENST00000424583.7	protein_coding		4123		chr19	TogoVar
MEF2D_chr1_156458727_156505775	156505681	A A	ACGAGGTC others(22): Show ACGAGGTCAGGAGTTCGAGACCAGTCTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	282	0.0036	29	c.-53 others(40): Show c.-5335_-5334insGCCAGACTGGTCTCGAACTCCTGACCTCG	MEF2D	ENSG00000116604.19	transcript	ENST00000348159.9	protein_coding		4907		chr1	TogoVar
MEGF6_chr1_3482951_3616508	3576985	A A	AGCCCTGC others(22): Show AGCCCTGCACACTCCACCCCTGCACACCTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02257.hp1 others(9): Show HG01891.hp1 HG02055.hp2 HG02257.hp1 HG02451.hp1 HG02622.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG03098.hp2 HG03516.hp1 NA18906.hp1 NA20300.hp2	a0001 a0014 a0021 others(6): Show a0001 a0014 a0021 a0022 a0023 a0051 a0064 a0090 a0095	a0001c0001 a0014c0017 a0021c0022 others(6): Show a0001c0001 a0014c0017 a0021c0022 a0022c0032 a0023c0034 a0051c0093 a0064c0113 a0090c0069 a0095c0048	a0001c0001t0001 a0014c0017t0015 a0014c0017t0038 others(7): Show a0001c0001t0001 a0014c0017t0015 a0014c0017t0038 a0021c0022t0012 a0022c0032t0008 a0023c0034t0004 a0051c0093t0013 a0064c0113t0056 a0090c0069t0004 a0095c0048t0008	a0001c0001t0001g0257 a0014c0017t0015g0234 a0014c0017t0015g0237 others(9): Show a0001c0001t0001g0257 a0014c0017t0015g0234 a0014c0017t0015g0237 a0014c0017t0038g0236 a0021c0022t0012g0233 a0022c0032t0008g0089 a0023c0034t0004g0088 a0023c0034t0004g0090 a0051c0093t0013g0235 a0064c0113t0056g0279 a0090c0069t0004g0249 a0095c0048t0008g0091	12	292	0.0411	29	c.481 others(46): Show c.481+2811_481+2839dupCAGGTGTGCAGGGGTGGAGTGTGCAGGG C	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MEI4_chr6_77648039_77932045	77680115	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02896.hp2 NA18906.hp2 HG01071.hp2 HG02896.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0015 a0001c0001t0006g0290 a0001c0001t0006g0360 a0001c0001t0006g0015 a0001c0001t0006g0290 a0001c0001t0006g0360	3	360	0.0083	29	c.-14 others(48): Show c.-14-10529_-14-10528insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEI4_chr6_77648039_77932045	77680128	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01256.hp2 HG01074.hp1 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0097 a0001c0001t0002g0057 a0001c0001t0001g0097 a0001c0001t0002g0057	2	360	0.0056	29	c.-14 others(48): Show c.-14-10529_-14-10528insAAAAAAAAAAAAAAAAAAAAAAAAAA ATA	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEIOB_chr16_1828986_1877164	1830944	A A	ACACACAC others(22): Show ACACACACACACACACACACCCCACCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0179 a0003c0003t0001g0179	1	380	0.0026	29	c.33 others(40): Show c.3311_*3312insGGTGGGTGGGGTGTGTGTGTGTGTGTGTG	MEIOB	ENSG00000162039.18	transcript	ENST00000325962.9	protein_coding		3041		chr16	TogoVar
MEIOB_chr16_1828986_1877164	1842623	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp2 HG01433.hp1 others(14): Show HG00673.hp1 HG01074.hp2 HG01433.hp1 HG02015.hp2 HG02080.hp2 HG02559.hp2 HG02738.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 NA18967.hp1 NA18970.hp2 NA18975.hp2 NA18985.hp1 NA19000.hp1 NA19003.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 a0001c0001t0001 a0001c0007t0001 a0002c0002t0001	a0001c0001t0001g0103 a0001c0007t0001g0036 a0002c0002t0001g0015 others(14): Show a0001c0001t0001g0103 a0001c0007t0001g0036 a0002c0002t0001g0015 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0038 a0002c0002t0001g0047 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0062 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0141	17	380	0.0447	29	c.881 others(44): Show c.881-651_881-650insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MEIOB	ENSG00000162039.18	transcript	ENST00000325962.9	protein_coding	10/13			chr16	TogoVar
MEIOC_chr17_44651468_44680801	44651856	A A	ATATATAT others(22): Show ATATATATATATATATATATATGTATGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	352	0.0028	29	c.-47 others(40): Show c.-4758_-4757insTATATATATATATATATATATGTATGTAT	MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding		4611		chr17	TogoVar
MEIOC_chr17_44651468_44680801	44651858	A A	AAATATAT others(22): Show AAATATATATATATATATATATGTATGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	352	0.0028	29	c.-47 others(40): Show c.-4756_-4755insAATATATATATATATATATATGTATGTAT	MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding		4609		chr17	TogoVar
MEIOC_chr17_44651468_44680801	44651858	A A	ATATATAT others(22): Show ATATATATATATATATATATATGTATGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	352	0.0028	29	c.-47 others(40): Show c.-4756_-4755insTATATATATATATATATATATGTATGTAT	MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding		4609		chr17	TogoVar
MEIOC_chr17_44651468_44680801	44670538	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(27): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG01106.hp2 HG01175.hp1 HG01192.hp1 HG01346.hp2 HG01361.hp1 HG01943.hp1 HG01978.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp1 NA18944.hp2 NA18962.hp1 NA18979.hp2 NA18984.hp1 NA18985.hp1 NA18994.hp2 NA19004.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19072.hp1 NA19075.hp1 NA19078.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0030 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0007g0139	30	352	0.0852	29	c.245 others(48): Show c.2457+1041_2457+1042insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
MEIS1_chr2_66430125_66578869	66473397	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	246	0.0041	29	c.742 others(46): Show c.742+9178_742+9179insAAAAAAAAAAAAAAATATATATATATAT A	MEIS1	ENSG00000143995.20	transcript	ENST00000272369.14	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
MEIS1_chr2_66430125_66578869	66473397	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03195.hp2 HG01123.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0010 a0001c0001t0013	a0001c0001t0010g0115 a0001c0001t0013g0028 a0001c0001t0010g0115 a0001c0001t0013g0028	2	246	0.0081	29	c.742 others(46): Show c.742+9178_742+9179insAAAAAAATATATATATATATATATATAT A	MEIS1	ENSG00000143995.20	transcript	ENST00000272369.14	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
MELK_chr9_36567895_36682682	36606265	A A	ATATATAA others(22): Show ATATATAATATATACATATGTATAGGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG01071.hp1 others(16): Show HG00639.hp2 HG01070.hp1 HG01071.hp1 HG01433.hp2 HG01978.hp1 HG02145.hp2 HG02257.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp2 NA19066.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0040 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0143 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238	19	242	0.0785	29	c.568 others(46): Show c.568-1192_568-1164dupATATAATATATACATATGTATAGGTGTG T	MELK	ENSG00000165304.8	transcript	ENST00000298048.7	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
MERTK_chr2_111893607_112034561	111925293	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01255.hp2 HG02559.hp2 others(2): Show HG01074.hp2 HG01255.hp2 HG02559.hp2 HG02735.hp1 HG03491.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0152 a0003c0003t0001g0017 a0003c0003t0001g0023 others(2): Show a0002c0002t0001g0152 a0003c0003t0001g0017 a0003c0003t0001g0023 a0003c0003t0001g0054 a0003c0003t0001g0058	5	288	0.0174	29	c.62- others(44): Show c.62-3827_62-3826insATATATATATATATATATATATATATATA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	1/18			chr2	TogoVar
METRNL_chr17_83074609_83100122	83090345	C C	CCCCCACA others(22): Show CCCCCACACACACACCCCGCCCCACACACA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA20905.hp2 NA18977.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0004 a0001c0001t0002 a0001c0004t0004	a0001c0001t0002g0195 a0001c0004t0004g0146 a0001c0001t0002g0195 a0001c0004t0004g0146	2	399	0.0050	29	c.557 others(46): Show c.557-2821_557-2820insCCCACACACACACCCCGCCCCACACACA C	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METTL15_chr11_28103388_28338507	28194175	T T	TCTTTCTT others(22): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0087 a0001c0001t0010g0087	1	332	0.0030	29	c.271 others(48): Show c.271-16887_271-16886insCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	METTL15	ENSG00000169519.21	transcript	ENST00000407364.8	protein_coding	3/6			chr11	TogoVar
METTL16_chr17_2411049_2516888	2417058	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0105 a0001c0001t0038g0105	1	298	0.0034	29	c.29 others(40): Show c.2911_*2912insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	10/10	2911		chr17	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAACA others(22): Show AACAAACAAACAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 NA18943.hp2 NA18960.hp2 others(6): Show HG02738.hp2 NA18943.hp2 NA18960.hp2 NA18968.hp2 NA18985.hp2 NA18990.hp1 NA18994.hp2 NA19056.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015	a0001c0001t0001g0002 a0001c0001t0001g0142 a0001c0001t0003g0003 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0142 a0001c0001t0003g0003 a0001c0001t0003g0325 a0001c0001t0011g0035 a0001c0001t0015g0243	9	488	0.0184	29	c.67 others(38): Show c.671_*672insATATATATATATATTTTTTGTTTGTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar

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Search Results (Total: 6085 hits)