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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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	status	chr	external
KMT5B_chr11_68149863_68218296	68173915	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18961.hp2 NA18961.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0114 a0005c0008t0001g0114	1	328	0.0031	0	c.544 others(5): Show c.544-2A>G		KMT5B	ENSG00000110066.16	transcript	ENST00000304363.9	protein_coding	5/10					chr11	TogoVar
KNDC1_chr10_133155219_133231412	133206683	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19240.hp2 NA19240.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0131 a0007c0009t0002g0131	1	332	0.0030	0	c.338 others(6): Show c.3388-2A>T		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	17/29					chr10	TogoVar
KRBA1_chr7_149709951_149739575	149720179	CCCCAGGC others(968): Show CCCCAGGCAATGCGTGACCTCAGCCTACTCAGTCCAGCCTCTCACCTCCC TGCCTCCCCTACTGCAACCTCCCAAGCTTTCACCCCTCATCCCTCTGGGC TGGAAGCCTGTTATGCAGAGAAGCACTCAGAGAAAGCCTGGGGTCACCCT GGAGAGTACCTCCTGCCTCAGGCCCCCCACCCACCACCACCCTGAAGCCT TATCACAGCCACCCCTGCAGAACCTGCTCCAGCTCCCAAAAGTCCTGCCA CGAGGCTTACATCCCAAGACCTCAGATGGTGGATGTGCTCCACCGGCCCA GACTGGGCAAGGCCAGGCATTTAGGGGGTGCCAGGAAAGGCAGAGGGCCC AGATGGTGGAAGAAGTGTAGCGGCAGCCCGCCTGGGCATTCCCCTGGGAG GCATGGAGATTAATGAGTAACGTAGAACAGAGGAGCCCTGTTACCCAGGC CCCGCCCCCATGCCCTGGCTGTCCCTTGGCCAGAGCGCCTGGCCTGAGCC CAGGTCCTCTATATCTCATGGGACATGGTGTCTCCTCTGGCTGCTCCTCA TGTGGCTGGGAGGATTACGTGAGATGCTGGGTGTGAAAACACGCACGTAG GTGTGAGTGCTGAGCAGCCGCAGGGGTGCGGGGGGGTCACTGTGGCCTCT CTGCAGGGGGACAGCCCCGGCACAGCCTGCACCTCACAGCCCTGGTGCAG CTGGTGAAGGAGATCCCAGAGTTCTTGTTTGGAGAAGTCAAGGGCGCTAT GGACAGCCCCGAGAGCGAGAGCCGGGGAGCCAGCCTGGATGGAGAGAGAG CGAGCCCCGAGGGTAAGTCAGACAGTGGGGCAGTGCACGCAGCCTCCTCT GCACTCCGCATGATGAAGCACAAGTCCACGGCACTGCACTGCATGTGGGC TTGCAGGCACAGGCCGGGAGGCAGAGTCACCTGCTGTTCCTCGTGGCTAG GCCGTGTGCCGCCCTCTGAGCACATG	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19077.hp1 NA19077.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0001 a0015c0017t0001	a0015c0017t0001g0164 a0015c0017t0001g0164	1	414	0.0024	-975	c.259 others(14): Show c.259+57_415+168del		KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding	4/17				INFO_REALIGN_3_PRIME	chr7	TogoVar
KRBA1_chr7_149709951_149739575	149722781	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	414	0.0024	0	c.701 others(5): Show c.701-2A>G		KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding	6/16					chr7	TogoVar
KRBA1_chr7_149709951_149739575	149723729	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(279): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0022 a0025 a0026 a0027	a0001c0001 a0001c0009 a0001c0025 others(24): Show a0001c0001 a0001c0009 a0001c0025 a0001c0028 a0002c0004 a0002c0005 a0003c0002 a0003c0018 a0004c0003 a0004c0020 a0006c0008 a0006c0033 a0007c0007 a0008c0010 a0009c0011 a0010c0012 a0011c0013 a0012c0014 a0014c0016 a0015c0017 a0016c0034 a0017c0032 a0018c0019 a0022c0024 a0025c0030 a0026c0021 a0027c0036	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0009t0001 a0001c0009t0004 a0001c0025t0001 a0001c0028t0001 a0002c0004t0001 a0002c0004t0006 a0002c0005t0001 a0002c0005t0007 a0003c0002t0001 a0003c0018t0001 a0004c0003t0001 a0004c0020t0001 a0006c0008t0003 a0006c0033t0003 a0007c0007t0001 a0008c0010t0001 a0009c0011t0001 a0010c0012t0001 a0011c0013t0001 a0012c0014t0001 a0014c0016t0001 a0015c0017t0001 a0016c0034t0001 a0017c0032t0001 a0018c0019t0001 a0022c0024t0001 a0025c0030t0001 a0026c0021t0001 a0027c0036t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(137): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0004g0038 a0001c0001t0005g0159 a0001c0001t0008g0004 a0001c0009t0001g0012 a0001c0009t0001g0120 a0001c0009t0004g0038 a0001c0025t0001g0019 a0001c0028t0001g0092 a0002c0004t0001g0010 a0002c0004t0001g0012 a0002c0004t0001g0029 a0002c0004t0001g0041 a0002c0004t0001g0047 a0002c0004t0001g0122 a0002c0004t0001g0123 a0002c0004t0001g0133 a0002c0004t0001g0134 a0002c0004t0001g0163 a0002c0004t0006g0010 a0002c0005t0001g0040 a0002c0005t0001g0048 a0002c0005t0001g0049 a0002c0005t0001g0050 a0002c0005t0001g0051 a0002c0005t0001g0052 a0002c0005t0001g0129 a0002c0005t0007g0040 a0003c0002t0001g0011 a0003c0002t0001g0015 a0003c0002t0001g0018 a0003c0002t0001g0030 a0003c0002t0001g0042 a0003c0002t0001g0136 a0003c0002t0001g0144 a0003c0002t0001g0145 a0003c0002t0001g0146 a0003c0002t0001g0148 a0003c0002t0001g0149 a0003c0002t0001g0150 a0003c0018t0001g0011 a0004c0003t0001g0005 a0004c0003t0001g0006 a0004c0003t0001g0125 a0004c0003t0001g0135 a0004c0003t0001g0138 a0004c0003t0001g0139 a0004c0003t0001g0140 a0004c0003t0001g0141 a0004c0003t0001g0142 a0004c0003t0001g0151 a0004c0020t0001g0124 a0006c0008t0003g0032 a0006c0008t0003g0046 a0006c0008t0003g0162 a0006c0033t0003g0046 a0007c0007t0001g0020 a0007c0007t0001g0153 a0008c0010t0001g0005 a0009c0011t0001g0013 a0009c0011t0001g0083 a0010c0012t0001g0053 a0010c0012t0001g0080 a0011c0013t0001g0130 a0011c0013t0001g0131 a0011c0013t0001g0132 a0012c0014t0001g0004 a0014c0016t0001g0043 a0015c0017t0001g0164 a0016c0034t0001g0024 a0017c0032t0001g0128 a0018c0019t0001g0137 a0022c0024t0001g0002 a0025c0030t0001g0152 a0026c0021t0001g0002 a0027c0036t0001g0002	282	414	0.6812	1	c.875 others(6): Show c.875-3dupT		KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding	7/16				INFO_REALIGN_3_PRIME	chr7	TogoVar
KRT27_chr17_40771808_40787550	40779628	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03704.hp2 HG03710.hp2 HG03927.hp2 others(2): Show HG03704.hp2 HG03710.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0024 a0005c0004t0001g0079 a0005c0004t0001g0024 a0005c0004t0001g0079	5	464	0.0108	0	c.847 others(5): Show c.847-1G>A		KRT27	ENSG00000171446.7	transcript	ENST00000301656.4	protein_coding	4/7					chr17	TogoVar
KRT2_chr12_52639558_52657211	52647826	TCTCCCGA others(34): Show TCTCCCGACAGTCACCTGGAGCTCCTCATACTGATATGGGGA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19063.hp1 NA19063.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0071 a0010c0018t0001g0071	1	466	0.0022	-41	c.112 others(53): Show c.1123-12_1151delTCCCCATATCAGTATGAGGAGCTCCAGGTGACT GTCGGGAG	p.Tyr others(5): Show p.Tyr375fs	KRT2	ENSG00000172867.4	transcript	ENST00000309680.4	protein_coding	6/9	1220/2450	1123/1920	375/639		chr12	TogoVar
KRT36_chr17_41481136_41494910	41487172	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	466	0.0022	0	c.988 others(5): Show c.988-2A>C		KRT36	ENSG00000126337.14	transcript	ENST00000328119.11	protein_coding	5/6					chr17	TogoVar
KRT4_chr12_52801549_52819116	52808420	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	470	0.0021	0	c.100 others(6): Show c.1000-1G>A		KRT4	ENSG00000170477.13	transcript	ENST00000551956.2	protein_coding	5/8					chr12	TogoVar
KRT74_chr12_52560782_52578843	52571456	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02622.hp2 HG02622.hp2	a0018 a0018	a0018c0030 a0018c0030	a0018c0030t0002 a0018c0030t0002	a0018c0030t0002g0101 a0018c0030t0002g0101	1	448	0.0022	0	c.748 others(5): Show c.748-2A>G		KRT74	ENSG00000170484.10	transcript	ENST00000305620.3	protein_coding	3/8					chr12	TogoVar
LAD1_chr1_201375833_201404324	201385806	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0086 a0002c0002t0003g0086	1	432	0.0023	0	c.102 others(6): Show c.1027-1G>A		LAD1	ENSG00000159166.15	transcript	ENST00000391967.7	protein_coding	3/9					chr1	TogoVar
LAD1_chr1_201375833_201404324	201385807	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0086 a0002c0002t0003g0086	1	432	0.0023	0	c.102 others(6): Show c.1027-2A>G		LAD1	ENSG00000159166.15	transcript	ENST00000391967.7	protein_coding	3/9					chr1	TogoVar
LAIR2_chr19_54497831_54515687	54503698	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	475	0.0021	0	c.35- others(4): Show c.35-2A>C		LAIR2	ENSG00000167618.10	transcript	ENST00000301202.7	protein_coding	1/4					chr19	TogoVar
LAMA5_chr20_62304065_62372312	62316035	TGGCACCC others(26): Show TGGCACCCTGGAGGGCAGCCCACACTGCGGGGGA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01515.hp1 HG01515.hp1	a0051 a0051	a0051c0117 a0051c0117	a0051c0117t0001 a0051c0117t0001	a0051c0117t0001g0072 a0051c0117t0001g0072	1	186	0.0054	-33	c.775 others(45): Show c.7757-10_7779delTCCCCCGCAGTGTGGGCTGCCCTCCAGGGTGCC	p.Val others(6): Show p.Val2586fs	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	58/80	7846/11426	7757/11088	2586/3695		chr20	TogoVar
LAMB2_chr3_49116114_49138050	49128820	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	294	0.0034	0	c.173 others(6): Show c.1732-1G>T		LAMB2	ENSG00000172037.14	transcript	ENST00000305544.9	protein_coding	13/31					chr3	TogoVar
LAMB4_chr7_108018553_108135361	108116162	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA21309.hp2 NA21309.hp2	a0039 a0039	a0039c0032 a0039c0032	a0039c0032t0002 a0039c0032t0002	a0039c0032t0002g0287 a0039c0032t0002g0287	1	292	0.0034	0	c.35- others(4): Show c.35-1G>C		LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	2/33					chr7	TogoVar
LAMC3_chr9_131004174_131099473	131069577	G G	GAACCCAG others(24): Show GAACCCAGCACGCACTGCCCCTGGCCCCTCTA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00609.hp2 HG01123.hp1 HG01943.hp1 others(44): Show HG00609.hp2 HG01123.hp1 HG01943.hp1 HG02129.hp1 HG02135.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02683.hp1 HG02698.hp2 HG02922.hp1 HG02922.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp2 NA18949.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18971.hp2 NA18977.hp1 NA18989.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19003.hp2 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19079.hp2 NA19087.hp2 NA20905.hp2	a0002 a0006 a0010 others(19): Show a0002 a0006 a0010 a0012 a0015 a0016 a0017 a0022 a0023 a0026 a0030 a0034 a0041 a0048 a0051 a0056 a0063 a0064 a0073 a0084 a0101 a0108	a0002c0010 a0002c0012 a0002c0020 others(23): Show a0002c0010 a0002c0012 a0002c0020 a0006c0047 a0010c0003 a0012c0125 a0015c0032 a0015c0078 a0015c0085 a0016c0182 a0017c0052 a0022c0164 a0023c0070 a0026c0141 a0030c0071 a0034c0221 a0041c0165 a0048c0147 a0051c0039 a0056c0208 a0063c0190 a0064c0199 a0073c0163 a0084c0061 a0101c0123 a0108c0090	a0002c0010t0002 a0002c0012t0002 a0002c0012t0028 others(27): Show a0002c0010t0002 a0002c0012t0002 a0002c0012t0028 a0002c0020t0002 a0006c0047t0002 a0010c0003t0001 a0010c0003t0002 a0010c0003t0022 a0012c0125t0002 a0015c0032t0002 a0015c0032t0021 a0015c0078t0002 a0015c0085t0002 a0016c0182t0002 a0017c0052t0002 a0022c0164t0002 a0023c0070t0027 a0026c0141t0001 a0030c0071t0002 a0034c0221t0002 a0041c0165t0001 a0048c0147t0002 a0051c0039t0001 a0056c0208t0023 a0063c0190t0002 a0064c0199t0002 a0073c0163t0002 a0084c0061t0002 a0101c0123t0002 a0108c0090t0002	a0002c0010t0002g0081 a0002c0010t0002g0151 a0002c0010t0002g0205 others(44): Show a0002c0010t0002g0081 a0002c0010t0002g0151 a0002c0010t0002g0205 a0002c0010t0002g0226 a0002c0012t0002g0017 a0002c0012t0002g0060 a0002c0012t0002g0074 a0002c0012t0028g0018 a0002c0020t0002g0152 a0002c0020t0002g0195 a0006c0047t0002g0194 a0006c0047t0002g0215 a0010c0003t0001g0168 a0010c0003t0002g0067 a0010c0003t0002g0159 a0010c0003t0002g0162 a0010c0003t0002g0167 a0010c0003t0002g0177 a0010c0003t0002g0185 a0010c0003t0002g0187 a0010c0003t0002g0231 a0010c0003t0022g0160 a0012c0125t0002g0132 a0015c0032t0002g0025 a0015c0032t0002g0034 a0015c0032t0021g0033 a0015c0078t0002g0023 a0015c0085t0002g0224 a0016c0182t0002g0283 a0017c0052t0002g0293 a0017c0052t0002g0328 a0022c0164t0002g0267 a0023c0070t0027g0069 a0026c0141t0001g0158 a0030c0071t0002g0014 a0034c0221t0002g0027 a0041c0165t0001g0269 a0048c0147t0002g0078 a0051c0039t0001g0227 a0051c0039t0001g0239 a0056c0208t0023g0360 a0063c0190t0002g0312 a0064c0199t0002g0296 a0073c0163t0002g0268 a0084c0061t0002g0122 a0101c0123t0002g0235 a0108c0090t0002g0051	47	360	0.1306	31	c.289 others(45): Show c.2891-32_2891-2dupAACCCAGCACGCACTGCCCCTGGCCCCTCTA		LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	16/27				INFO_REALIGN_3_PRIME	chr9	TogoVar
LARS2_chr3_45383576_45554407	45399787	CCCTTTCC others(946): Show CCCTTTCCACCCTTCCCCCAAAGTCCCCAAAGTCCATTGTATCATTCTTA TGCCTCATAGCTTAGCTCCCACATATCAGTGAGAACATAAGATGTTTGGT TTTCCATTCCTGAGTTACTTCATTTAGAATAATAGTCTCCAATCTCACCC AGGTCACTGCAAATACTGTTAATTCATTCCTTTCAAAAAATAAGTTTTTA AAAGAGAAAAAAAAAAGATATATGGGTACTTAACACTTAGAGGTTGTTTG GCATTATTTTGGACATTCTTTAGCTTAAACCAGGGCTTTGAATTTTGCTT TTTGACATTTTAATTGATTTACATTCTGGGAACACTCTTTTTAAAAGGAA ACTTTTAAAATGTTAAATTATTACTTTGTGTAAAATGCCAAAATATTATG TATACATGCAGAGTTCCCAGAAAATGCTTAATAAATACTCATTGTCGTTC TTTCCTAGAAATCGAAGCCAAAATTTTACGTGCTTTCCATGTTCCCTTAT CCTTCTGGTAAGCTGCACATGGGCCATGTGCGTGTCTACACCATCAGCGA CACCATAGCACGGTTCCAGAAGATGAGAGGGATGCAGGTAAGAACAGGTG CCTGCTGGAGCAGCCCTTGTCTGCCACACGCAGGGTTGGCATGTAGTAAT ATGTGTTCAAGACAAATGAAGAAAACCAACTTTAGTTAAGATTAGGACAG CTTTGAAGATGGACATGAAAAGCTCAGTGTTTCCTTTTATGGATTAGATG ATATTATAATAAAGCATCTAGGTTAATTGGGGGGCAGCCATGAGTTGGGT GTTGTGCTGGGGTGGAGATCAGATGGGAATGGGGTGAAAGGTAGATACAA ATGTGGATAACACTGATAATCTTCCCAGGAGATACTCACCCATGAGTAGA GAATCATTGTATATAACGAACTGAGGTCAACAGTACAAATACACATCAGT GCTA	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18995.hp1 NA18995.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0001 a0007c0023t0001	a0007c0023t0001g0135 a0007c0023t0001g0135	1	242	0.0041	-953	c.235 others(15): Show c.235-457_363+367del		LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	4/22					chr3	TogoVar
LCN12_chr9_136947273_136960497	136953641	CCTCAGCA others(57): Show CCTCAGCATGGACCTGCCAGCTTCCGGAGCCTTCCGCCTCCACCTGTCCC CTCCTACAGAGGCCA	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG02523.hp2 HG02523.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0038 a0004c0006t0001g0038	1	382	0.0026	-64	c.252 others(74): Show c.252-58_257delCTCAGCATGGACCTGCCAGCTTCCGGAGCCTTCCG CCTCCACCTGTCCCCTCCTACAGAGGCCA	p.Gly others(11): Show p.Gly85_Gln86del	LCN12	ENSG00000184925.12	transcript	ENST00000371633.8	protein_coding	3/6		252/579	84/192		chr9	TogoVar
LDLRAD1_chr1_54002298_54023186	54010411	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0078 a0004c0009t0001g0078	1	400	0.0025	0	c.341 others(5): Show c.341-1G>A		LDLRAD1	ENSG00000203985.11	transcript	ENST00000371360.2	protein_coding	4/5					chr1	TogoVar
LILRA2_chr19_54568790_54595287	54587200	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00544.hp2 HG00558.hp2 HG00597.hp2 others(65): Show HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00735.hp2 HG01074.hp2 HG01123.hp2 HG01261.hp1 HG01358.hp2 HG01928.hp1 HG01993.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02523.hp1 HG02683.hp2 HG02895.hp1 HG03453.hp2 HG03704.hp2 NA18612.hp1 NA18747.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19057.hp2 NA19059.hp1 NA19060.hp1 NA19062.hp2 NA19068.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19086.hp2 NA19089.hp1	a0001 a0014 a0017 others(1): Show a0001 a0014 a0017 a0019	a0001c0001 a0014c0021 a0017c0023 others(1): Show a0001c0001 a0014c0021 a0017c0023 a0019c0028	a0001c0001t0003 a0001c0001t0010 a0001c0001t0035 others(3): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0035 a0014c0021t0003 a0017c0023t0034 a0019c0028t0046	a0001c0001t0003g0001 a0001c0001t0003g0018 a0001c0001t0003g0019 others(14): Show a0001c0001t0003g0001 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0101 a0001c0001t0003g0105 a0001c0001t0010g0001 a0001c0001t0035g0047 a0014c0021t0003g0001 a0017c0023t0034g0001 a0019c0028t0046g0053	68	427	0.1593	0	c.130 others(6): Show c.1307-1G>A		LILRA2	ENSG00000239998.7	transcript	ENST00000391738.8	protein_coding	7/7					chr19	TogoVar
LILRA6_chr19_54231590_54247790	54242306	GGGCCCTA others(13): Show GGGCCCTAGATGGAAATCAGA	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18522.hp1 NA18522.hp1	a0035 a0035	a0035c0053 a0035c0053	a0035c0053t0060 a0035c0053t0060	a0035c0053t0060g0186 a0035c0053t0060g0186	1	450	0.0022	-20	c.71- others(28): Show c.71-16_74delTCTGATTTCCATCTAGGGCC	p.Gly others(4): Show p.Gly24fs	LILRA6	ENSG00000244482.11	transcript	ENST00000396365.7	protein_coding	3/8	113/3848	71/1446	24/481		chr19	TogoVar
LIPJ_chr10_88581762_88611976	88594666	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02071.hp1 HG02080.hp1 HG02280.hp2 others(10): Show HG02071.hp1 HG02080.hp1 HG02280.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03540.hp1 HG03579.hp2 HG04204.hp2 HG04228.hp2 NA19030.hp2	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0003 a0008c0013 a0010c0012 a0001c0003 a0008c0013 a0010c0012	a0001c0003t0002 a0008c0013t0002 a0010c0012t0002 a0001c0003t0002 a0008c0013t0002 a0010c0012t0002	a0001c0003t0002g0015 a0001c0003t0002g0036 a0001c0003t0002g0040 others(6): Show a0001c0003t0002g0015 a0001c0003t0002g0036 a0001c0003t0002g0040 a0001c0003t0002g0111 a0001c0003t0002g0112 a0001c0003t0002g0113 a0001c0003t0002g0115 a0008c0013t0002g0116 a0010c0012t0002g0038	13	410	0.0317	0	c.330 others(5): Show c.330-1G>C		LIPJ	ENSG00000204022.9	transcript	ENST00000371939.7	protein_coding	5/10					chr10	TogoVar
LIPJ_chr10_88581762_88611976	88596265	CTTATT CTTATT	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp2 HG01070.hp2 HG01099.hp2 others(1): Show HG00280.hp2 HG01070.hp2 HG01099.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0108 a0001c0001t0001g0018 a0001c0001t0001g0108	4	410	0.0098	-5	c.440 others(16): Show c.440-6_440-2delTTTTA		LIPJ	ENSG00000204022.9	transcript	ENST00000371939.7	protein_coding	6/10				INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF2_chr22_50497949_50512702	50504985	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0275 a0001c0042t0001g0275	1	414	0.0024	0	c.125 others(6): Show c.1255-1G>A		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	9/13					chr22	TogoVar
LMNTD1_chr12_25471082_25558283	25552991	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01891.hp2 HG01891.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0376 a0007c0012t0001g0376	1	388	0.0026	0	c.-30 others(5): Show c.-30-2A>C		LMNTD1	ENSG00000152936.11	transcript	ENST00000458174.7	protein_coding	1/9					chr12	TogoVar
LMO2_chr11_33853576_33897076	33869989	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0034 a0001c0002t0008g0034	1	442	0.0023	0	c.-27 others(6): Show c.-271-2A>G		LMO2	ENSG00000135363.12	transcript	ENST00000257818.3	protein_coding	2/5					chr11	TogoVar
LOC102725191_chr7_12499441_12546270	12531011	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0310 a0003c0003t0001g0310	1	422	0.0024	0	c.688 others(5): Show c.688-2A>G		LOC102725191	ENSG00000226690.9	transcript	ENST00000636804.2	protein_coding	4/5					chr7	TogoVar
LOC400499_chr16_11367015_11532247	11391862	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp2 HG00673.hp1 HG02129.hp1 others(6): Show HG00408.hp2 HG00673.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 NA18945.hp1 NA18969.hp2 NA19005.hp1	a0001 a0013 a0020 others(3): Show a0001 a0013 a0020 a0045 a0105 a0167	a0001c0001 a0013c0064 a0020c0017 others(3): Show a0001c0001 a0013c0064 a0020c0017 a0045c0103 a0105c0089 a0167c0207	a0001c0001t0003 a0013c0064t0003 a0020c0017t0003 others(3): Show a0001c0001t0003 a0013c0064t0003 a0020c0017t0003 a0045c0103t0003 a0105c0089t0003 a0167c0207t0003	a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0247 others(6): Show a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0247 a0001c0001t0003g0256 a0013c0064t0003g0172 a0020c0017t0003g0216 a0045c0103t0003g0289 a0105c0089t0003g0248 a0167c0207t0003g0238	9	310	0.0290	0	c.853 others(6): Show c.8536-1G>C		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	57/66					chr16	TogoVar
LONP1_chr19_5686834_5725146	5694554	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18954.hp1 NA18954.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0274 a0011c0021t0001g0274	1	386	0.0026	0	c.215 others(6): Show c.2155-2A>G		LONP1	ENSG00000196365.12	transcript	ENST00000360614.8	protein_coding	14/17					chr19	TogoVar
LPA_chr6_160526482_160669275	160617277	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0148 a0002c0002t0003g0148	1	148	0.0068	0	c.210 others(6): Show c.2102-1G>A		LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	13/38					chr6	TogoVar
LRRC37A2_chr17_46507468_46560646	46523791	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01167.hp1 HG02257.hp2 HG02451.hp1 others(2): Show HG01167.hp1 HG02257.hp2 HG02451.hp1 HG02602.hp1 HG03704.hp2	a0005 a0007 a0008 a0005 a0007 a0008	a0005c0005 a0007c0008 a0008c0007 a0005c0005 a0007c0008 a0008c0007	a0005c0005t0002 a0007c0008t0003 a0008c0007t0003 a0005c0005t0002 a0007c0008t0003 a0008c0007t0003	a0005c0005t0002g0065 a0007c0008t0003g0103 a0007c0008t0003g0104 others(2): Show a0005c0005t0002g0065 a0007c0008t0003g0103 a0007c0008t0003g0104 a0007c0008t0003g0105 a0008c0007t0003g0093	5	109	0.0459	1	c.282 others(7): Show c.2826-3dupT		LRRC37A2	ENSG00000238083.10	transcript	ENST00000576629.6	protein_coding	4/13				INFO_REALIGN_3_PRIME	chr17	TogoVar
LRRC69_chr8_91097619_91224257	91133094	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00639.hp1 HG00733.hp2 others(8): Show HG00099.hp1 HG00639.hp1 HG00733.hp2 HG01168.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG02280.hp2 HG03239.hp2 HG03669.hp1 NA18947.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 a0001c0001t0001 a0002c0002t0001 a0002c0007t0001	a0001c0001t0001g0312 a0002c0002t0001g0060 a0002c0002t0001g0062 others(8): Show a0001c0001t0001g0312 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0084 a0002c0002t0001g0092 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0134 a0002c0007t0001g0061	11	318	0.0346	1	c.384 others(6): Show c.384-3dupT		LRRC69	ENSG00000214954.9	transcript	ENST00000448384.3	protein_coding	3/7				INFO_REALIGN_3_PRIME	chr8	TogoVar
LRRC71_chr1_156915632_156938094	156930528	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01109.hp2 HG03834.hp2 HG01109.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0213 a0001c0003t0001g0214	2	402	0.0050	0	c.124 others(6): Show c.1241-1G>C		LRRC71	ENSG00000160838.14	transcript	ENST00000337428.8	protein_coding	11/14					chr1	TogoVar
LRRK1_chr15_100914357_101083257	101061162	C C	CACTT CACTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(88): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00544.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01943.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18952.hp1 NA18954.hp1 NA18967.hp1 NA18975.hp2 NA18990.hp1 NA19005.hp2 NA19009.hp1 NA19030.hp2 NA19056.hp2 NA19062.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0006 a0007 a0014 a0016 a0025 a0027	a0001c0002 a0001c0004 a0001c0008 others(34): Show a0001c0002 a0001c0004 a0001c0008 a0001c0010 a0001c0013 a0001c0017 a0001c0022 a0001c0023 a0001c0031 a0001c0033 a0001c0035 a0001c0036 a0001c0048 a0001c0055 a0001c0061 a0001c0063 a0001c0065 a0001c0079 a0001c0080 a0001c0081 a0001c0092 a0001c0095 a0001c0100 a0001c0102 a0001c0108 a0001c0110 a0001c0114 a0002c0018 a0003c0039 a0003c0074 a0006c0027 a0006c0111 a0007c0120 a0014c0053 a0016c0088 a0025c0096 a0027c0047	a0001c0002t0001 a0001c0002t0027 a0001c0002t0029 others(78): Show a0001c0002t0001 a0001c0002t0027 a0001c0002t0029 a0001c0002t0032 a0001c0002t0034 a0001c0002t0040 a0001c0002t0041 a0001c0002t0054 a0001c0002t0152 a0001c0002t0157 a0001c0002t0166 a0001c0002t0168 a0001c0002t0169 a0001c0002t0172 a0001c0002t0173 a0001c0002t0174 a0001c0002t0175 a0001c0002t0176 a0001c0002t0177 a0001c0002t0180 a0001c0002t0181 a0001c0002t0186 a0001c0002t0187 a0001c0002t0188 a0001c0002t0226 a0001c0002t0265 a0001c0002t0268 a0001c0004t0001 a0001c0004t0015 a0001c0004t0027 a0001c0004t0028 a0001c0004t0035 a0001c0004t0135 a0001c0004t0167 a0001c0004t0171 a0001c0004t0228 a0001c0004t0241 a0001c0004t0248 a0001c0004t0249 a0001c0008t0051 a0001c0008t0198 a0001c0010t0049 a0001c0010t0204 a0001c0010t0207 a0001c0010t0209 a0001c0010t0211 a0001c0010t0260 a0001c0013t0047 a0001c0017t0165 a0001c0022t0164 a0001c0023t0160 a0001c0031t0251 a0001c0033t0009 a0001c0035t0014 a0001c0036t0039 a0001c0048t0191 a0001c0055t0247 a0001c0061t0014 a0001c0063t0161 a0001c0065t0250 a0001c0079t0206 a0001c0080t0163 a0001c0081t0190 a0001c0092t0001 a0001c0095t0184 a0001c0100t0202 a0001c0102t0162 a0001c0108t0158 a0001c0110t0153 a0001c0114t0219 a0002c0018t0023 a0003c0039t0001 a0003c0039t0028 a0003c0074t0033 a0006c0027t0021 a0006c0111t0132 a0007c0120t0179 a0014c0053t0009 a0016c0088t0001 a0025c0096t0087 a0027c0047t0203	a0001c0002t0001g0199 a0001c0002t0001g0243 a0001c0002t0001g0253 others(88): Show a0001c0002t0001g0199 a0001c0002t0001g0243 a0001c0002t0001g0253 a0001c0002t0001g0312 a0001c0002t0027g0002 a0001c0002t0029g0038 a0001c0002t0029g0274 a0001c0002t0032g0029 a0001c0002t0034g0053 a0001c0002t0040g0197 a0001c0002t0041g0284 a0001c0002t0054g0179 a0001c0002t0152g0203 a0001c0002t0157g0058 a0001c0002t0166g0216 a0001c0002t0168g0052 a0001c0002t0169g0214 a0001c0002t0172g0046 a0001c0002t0173g0224 a0001c0002t0174g0040 a0001c0002t0175g0233 a0001c0002t0176g0254 a0001c0002t0177g0063 a0001c0002t0180g0060 a0001c0002t0181g0249 a0001c0002t0186g0269 a0001c0002t0187g0070 a0001c0002t0188g0174 a0001c0002t0226g0209 a0001c0002t0265g0305 a0001c0002t0268g0309 a0001c0004t0001g0026 a0001c0004t0001g0088 a0001c0004t0001g0156 a0001c0004t0015g0157 a0001c0004t0015g0159 a0001c0004t0027g0028 a0001c0004t0028g0150 a0001c0004t0035g0161 a0001c0004t0135g0008 a0001c0004t0167g0146 a0001c0004t0171g0116 a0001c0004t0228g0130 a0001c0004t0241g0122 a0001c0004t0248g0129 a0001c0004t0249g0136 a0001c0008t0051g0271 a0001c0008t0198g0059 a0001c0010t0049g0079 a0001c0010t0204g0011 a0001c0010t0207g0115 a0001c0010t0209g0012 a0001c0010t0211g0017 a0001c0010t0260g0121 a0001c0013t0047g0007 a0001c0017t0165g0005 a0001c0022t0164g0327 a0001c0023t0160g0272 a0001c0031t0251g0072 a0001c0033t0009g0033 a0001c0033t0009g0034 a0001c0035t0014g0241 a0001c0035t0014g0259 a0001c0036t0039g0211 a0001c0048t0191g0004 a0001c0055t0247g0009 a0001c0061t0014g0153 a0001c0063t0161g0144 a0001c0065t0250g0125 a0001c0079t0206g0082 a0001c0080t0163g0084 a0001c0081t0190g0096 a0001c0092t0001g0045 a0001c0095t0184g0183 a0001c0100t0202g0061 a0001c0102t0162g0247 a0001c0108t0158g0321 a0001c0110t0153g0090 a0001c0114t0219g0318 a0002c0018t0023g0212 a0003c0039t0001g0184 a0003c0039t0028g0071 a0003c0074t0033g0158 a0006c0027t0021g0113 a0006c0027t0021g0114 a0006c0111t0132g0248 a0007c0120t0179g0239 a0014c0053t0009g0106 a0016c0088t0001g0277 a0025c0096t0087g0193 a0027c0047t0203g0091	91	338	0.2692	4	c.468 others(17): Show c.4680-6_4680-3dupTTAC		LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	29/33				INFO_REALIGN_3_PRIME	chr15	TogoVar
LY75_chr2_159798355_159909756	159840956	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18942.hp2 NA18942.hp2	a0047 a0047	a0047c0055 a0047c0055	a0047c0055t0003 a0047c0055t0003	a0047c0055t0003g0275 a0047c0055t0003g0275	1	330	0.0030	0	c.328 others(6): Show c.3281-1G>A		LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	24/34					chr2	TogoVar
MACF1_chr1_39199695_39492138	39331172	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02145.hp2 HG02486.hp1 HG02886.hp2 others(3): Show HG02145.hp2 HG02486.hp1 HG02886.hp2 HG03491.hp2 NA19010.hp1 NA20129.hp1	a0002 a0040 a0002 a0040	a0002c0003 a0002c0004 a0002c0025 others(1): Show a0002c0003 a0002c0004 a0002c0025 a0040c0051	a0002c0003t0002 a0002c0004t0001 a0002c0025t0001 others(1): Show a0002c0003t0002 a0002c0004t0001 a0002c0025t0001 a0040c0051t0001	a0002c0003t0002g0246 a0002c0004t0001g0009 a0002c0004t0001g0010 others(3): Show a0002c0003t0002g0246 a0002c0004t0001g0009 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0025t0001g0191 a0040c0051t0001g0205	6	246	0.0244	1	c.461 others(7): Show c.4615-3dupT		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	36/100				INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39331172	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00642.hp1 HG02818.hp2 HG02895.hp1 others(4): Show HG00642.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02965.hp2 NA19043.hp1 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0008 a0002c0004 a0005c0008	a0002c0004t0001 a0005c0008t0001 a0005c0008t0005 others(1): Show a0002c0004t0001 a0005c0008t0001 a0005c0008t0005 a0005c0008t0007	a0002c0004t0001g0202 a0005c0008t0001g0207 a0005c0008t0001g0210 others(4): Show a0002c0004t0001g0202 a0005c0008t0001g0207 a0005c0008t0001g0210 a0005c0008t0005g0162 a0005c0008t0005g0163 a0005c0008t0005g0164 a0005c0008t0007g0166	7	246	0.0285	2	c.461 others(15): Show c.4615-4_4615-3dupTT		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	36/100				INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGEB3_chrX_30225657_30242495	30232727	TGCGCCAC others(425): Show TGCGCCACTGCACTCCCGCCTGGGTGACAGAGAGAGACTCCATCTCAAAA TAAGTAAATAAATAAATAAATATAAACTTTTTTTTATTTTTTATTTTAAG GCAGGGCTGTGGCTCACGCTTGTAATCCCAACATTTTGGGCGGAGGAAGC CAGCCTCATCGCTTAAGCACAGGAGTTCGCGGACTGGGAGGTGAGCTGCC CCTGTAGTCCCAGCTACCCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCC CTAGGAGTCAAGGCTGCAGTGAGCCAAGGTCACGCCACTGCGCTCCAGCC TGGGCGACAGAGAGAGACACTGTCTCAAATTAGCCGGGCGTGGTGGGGCA CAGGTGTAGTCCCAGCTATTCGGGAGGTGGAGGCAGGAGAATCCCTTGAA CCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATC	T T	splice_acceptor_variant others(5): Show splice_acceptor_variant splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	NA18954.hp2 NA19006.hp1 NA19078.hp2 NA18954.hp2 NA19006.hp1 NA19078.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0035 a0003c0003t0006g0097 a0003c0003t0006g0035 a0003c0003t0006g0097	3	338	0.0089	-432	c.-25 others(15): Show c.-253-68_-163-72del		MAGEB3	ENSG00000198798.6	transcript	ENST00000361644.4	protein_coding	3/5				INFO_REALIGN_3_PRIME	chrX	TogoVar
MALT1_chr18_58666465_58759477	58696337	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG01106.hp1 HG01243.hp1 others(46): Show HG00438.hp1 HG01106.hp1 HG01243.hp1 HG01261.hp2 HG01884.hp2 HG01934.hp1 HG01978.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA18522.hp2 NA18940.hp1 NA18970.hp1 NA18971.hp2 NA18983.hp1 NA18985.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19043.hp1 NA19056.hp2 NA19060.hp2 NA19079.hp1 NA19085.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0047 a0001c0001t0071 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079	a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0002g0293 others(46): Show a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0002g0293 a0001c0001t0002g0321 a0001c0001t0002g0324 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0244 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0266 a0001c0001t0005g0185 a0001c0001t0006g0377 a0001c0001t0006g0380 a0001c0001t0007g0077 a0001c0001t0007g0079 a0001c0001t0007g0115 a0001c0001t0007g0231 a0001c0001t0008g0137 a0001c0001t0008g0140 a0001c0001t0008g0146 a0001c0001t0008g0147 a0001c0001t0008g0151 a0001c0001t0009g0123 a0001c0001t0010g0159 a0001c0001t0011g0088 a0001c0001t0012g0057 a0001c0001t0012g0064 a0001c0001t0012g0065 a0001c0001t0012g0066 a0001c0001t0012g0067 a0001c0001t0012g0069 a0001c0001t0013g0276 a0001c0001t0018g0059 a0001c0001t0018g0060 a0001c0001t0018g0061 a0001c0001t0018g0062 a0001c0001t0023g0156 a0001c0001t0027g0354 a0001c0001t0027g0355 a0001c0001t0027g0356 a0001c0001t0028g0381 a0001c0001t0032g0322 a0001c0001t0047g0225 a0001c0001t0071g0141 a0001c0001t0076g0056 a0001c0001t0077g0058 a0001c0001t0078g0357 a0001c0001t0079g0070	49	406	0.1207	1	c.377 others(6): Show c.377-3dupT		MALT1	ENSG00000172175.16	transcript	ENST00000649217.2	protein_coding	2/16				INFO_REALIGN_3_PRIME	chr18	TogoVar
MALT1_chr18_58666465_58759477	58696337	A A	ATT ATT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01891.hp1 HG02055.hp2 HG02486.hp2 others(3): Show HG01891.hp1 HG02055.hp2 HG02486.hp2 HG02976.hp2 HG03471.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0034 others(3): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0034 a0001c0001t0052 a0001c0001t0064 a0001c0001t0068	a0001c0001t0003g0243 a0001c0001t0012g0063 a0001c0001t0034g0130 others(3): Show a0001c0001t0003g0243 a0001c0001t0012g0063 a0001c0001t0034g0130 a0001c0001t0052g0229 a0001c0001t0064g0230 a0001c0001t0068g0175	6	406	0.0148	2	c.377 others(13): Show c.377-4_377-3dupTT		MALT1	ENSG00000172175.16	transcript	ENST00000649217.2	protein_coding	2/16				INFO_REALIGN_3_PRIME	chr18	TogoVar
MAP3K19_chr2_134959491_135052447	135000016	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01261.hp1 HG01261.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0102 a0011c0015t0001g0102	1	334	0.0030	0	c.236 others(5): Show c.236-1G>A		MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	6/12					chr2	TogoVar
MAPKAPK3_chr3_50612151_50654291	50642241	CTGTTTCT others(29): Show CTGTTTCTGCAGAAGCTGCAGAGATAATGCGGGATAT	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0092 a0003c0003t0001g0092	1	326	0.0031	-36	c.425 others(45): Show c.425-9_451delTTTCTGCAGAAGCTGCAGAGATAATGCGGGATATTG	p.Glu others(13): Show p.Glu142_Ile150del	MAPKAPK3	ENSG00000114738.11	transcript	ENST00000621469.5	protein_coding	5/11		425/1149	142/382	INFO_REALIGN_3_PRIME	chr3	TogoVar
METTL17_chr14_20984980_21002035	20996707	GGCAGGTA others(69): Show GGCAGGTATGGGGGGTGTGACCAAAATCAGTGGGATGTGGCAGGAAGCTG CAGCCCACGCCAGCATCTGTTTCCACA	G G	splice_acceptor_variant others(4): Show splice_acceptor_variant splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18957.hp2 NA18957.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0106 a0006c0007t0001g0106	1	478	0.0021	-76	c.126 others(87): Show c.1263_1266-1delCAGGTATGGGGGGTGTGACCAAAATCAGTGGGAT GTGGCAGGAAGCTGCAGCCCACGCCAGCATCTGTTTCCACAG	p.Arg others(6): Show p.Arg422del	METTL17	ENSG00000165792.18	transcript	ENST00000339374.11	protein_coding	13/14	1286/1539	1263/1371	421/456	INFO_REALIGN_3_PRIME	chr14	TogoVar
METTL21A_chr2_207607739_207630394	207621541	GGGGGCAG others(1215): Show GGGGGCAGAGCAATCTCCCATGGGAAGTATAAATAACAGAGTGTGTGTGT GTGTGAGAGAGAGAGACAGAAATTAGAGAGAGAGAAATTAGCCCGTTAGC CTCACTGGAGTTAAGAACCCCAGCAGTTGGCCCACAACTCATAAGTATAA GCAAAAGATAATAACCCAGTAAGGGGAAAACCCACGAAGGGTTTTGCGCT AAGAAAACAGCAAATGCACCTCTCAATGAGTTCTGCTCACTAAGGAGTCA ATGCATGACACTCACCCAGCAGGGCAGCCACTATGCCCACCAGCCCCGTG CCAGCACCCAGCTCCACGGCAGAGCGGCCCCTGAGCTCCACAGCTCCCAT CTCCAGGTATGTGGAAAGAACGATGGCCTGAATGAAAACACAGTGTGATG ACGATTAAGGTCAACATGTGCTTGAGTAGCTGCAGGGTTTCAGGTCAGCT ACACCCACCCCTCTCCCACTTCGAGGTTCAATTCCCAGCTTAACAACACA CACAGGAACTTAGCTGGTGCAGCAAGGTAACCTCCCCCTTAGAGCAAGCA CAGGGTCCCACAGCAGTGCCCAGAGATGATGCCCACACTAAATGGGGTCC TGCTGGATCTGGAAAGCTTAATTTTTTTTTTTTTTTTTTTTTGAGATGGA GTCTCAGTCCATCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGC TCACTGCAACCTCCACCTCCCAAGCTCAAGCGATTCTCCCACCTCAGCAC CCCCAGTAACTGGGACACAGGCGTGCACCACCACACCCAGCTAATTTTTG TAGTTTTTTTGGTAGAGATGGGGTTTTGCCATGTTGGCCAAGCTGGTCTT GAACTCCTGAGCTCCTGCGTCAGCTTCCCAAAGTGCTAGGATTATAGGCG TGAGCTATCACACCCAGCCTGGAAAGCTTAACTTTTTACTGTGTCACAGC ACTTTTATGCTTGAAGTTTACACAACTATTCTGCAAGAACTGACATGAAC AATTTCTATGATTTTGTTTAAGGGAATGCCCAGTTCCTAAACCAAACTCA GGTCAGCAAAGCCACAACTTCACCCATAGGGAAAAAGCAACACATTGCCC AAGGGTCTCTGAACTGCGTCACTGATGGTCATCGCCCCACAGGGGCCCTC ACCATACGTTTTGGGCATCAGAAGGTAAGTTTTGGCCAAAGTTTTGGATA CTTGATGTGTGGTTTCAACATTT	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18961.hp2 NA18961.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0115 a0007c0009t0001g0115	1	386	0.0026	-1222	c.148 others(15): Show c.148-846_259+264del		METTL21A	ENSG00000144401.14	transcript	ENST00000411432.6	protein_coding	3/4					chr2	TogoVar
METTL27_chr7_73829590_73847516	73840121	CTG CTG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01109.hp1 HG02109.hp1 HG02273.hp2 others(4): Show HG01109.hp1 HG02109.hp1 HG02273.hp2 HG02683.hp2 HG02976.hp1 HG04115.hp1 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0036 a0002c0002t0001g0117 others(1): Show a0002c0002t0001g0022 a0002c0002t0001g0036 a0002c0002t0001g0117 a0002c0002t0001g0145	7	372	0.0188	-2	c.389 others(13): Show c.389-3_389-2delCA		METTL27	ENSG00000165171.11	transcript	ENST00000297873.9	protein_coding	4/5					chr7	TogoVar
METTL9_chr16_21594577_21662471	21612623	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00544.hp1 HG00609.hp2 HG00738.hp1 others(32): Show HG00544.hp1 HG00609.hp2 HG00738.hp1 HG01081.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02132.hp2 HG02280.hp1 HG02647.hp2 HG02723.hp1 HG02922.hp1 HG03453.hp2 HG03831.hp2 HG04184.hp1 NA18522.hp2 NA18747.hp1 NA18941.hp2 NA18951.hp2 NA18964.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA19054.hp1 NA19064.hp2 NA19077.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0077 a0001c0001t0001g0126 a0001c0001t0001g0139 others(25): Show a0001c0001t0001g0077 a0001c0001t0001g0126 a0001c0001t0001g0139 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0231 a0001c0001t0001g0313 a0001c0001t0001g0318 a0001c0001t0007g0220 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0004t0001g0168 a0001c0004t0001g0169	35	364	0.0962	1	c.166 others(6): Show c.166-3dupT		METTL9	ENSG00000197006.15	transcript	ENST00000358154.8	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr16	TogoVar
MIB1_chr18_21735792_21875953	21791373	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0044 a0001c0001t0024g0044	1	308	0.0033	0	c.909 others(5): Show c.909-1G>C		MIB1	ENSG00000101752.13	transcript	ENST00000261537.7	protein_coding	6/20					chr18	TogoVar
MKI67_chr10_128091659_128131423	128116008	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19091.hp1 NA19091.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0005 a0007c0007t0005	a0007c0007t0005g0113 a0007c0007t0005g0113	1	408	0.0025	0	c.401 others(5): Show c.401-1G>A		MKI67	ENSG00000148773.14	transcript	ENST00000368654.8	protein_coding	6/14					chr10	TogoVar
MLH3_chr14_75008775_75056467	75017201	T T	TCTATGGG others(30): Show TCTATGGGAAGAAAGAATAACTTCAATTAGCAATATGA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA20300.hp1 NA20300.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0044 a0006c0006t0001g0044	1	262	0.0038	37	c.424 others(51): Show c.4243-37_4243-1dupTCATATTGCTAATTGAAGTTATTCTTTCTTC CCATAG		MLH3	ENSG00000119684.16	transcript	ENST00000355774.7	protein_coding	12/12					chr14	TogoVar

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