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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(627): Show ATGATGGTGATGATGGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGG GGTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTG GTGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGATGGTAATGATGGG GGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATA GTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGAT GGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGATGG TGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGATG GTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGGT GATGGTGATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGA TGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0053 a0001c0001t0015g0053	1	292	0.0034	634	c.21 others(649): Show c.21-379_*21-378insATCACCATCACCACCATCACCACCACCACC ACCATCACCACCACCACCATCACCATCACCACCACCATCACCACCATCAC CACCATCACCATCACCACCACCACCATCACCACCATCACTGCCACCATCA CCATCACCATCACCACCATCACCACCATCATCACCATCACCACCACCATC ACCACCATCATCACCATCACCACCACCACCACCACCACCATCACCATCAC CACCACCATCACCACCATCACCGTCACCACCATCACCACCACCACCATCA CCACCATCATCACCATCACCACCACCATCACCACCACCATCACCACCATC ATCACTATCACCACCATCACCACCATCATCACCACCACCACCACCACCAT CACCACCACCATCACCACCATCACCATCACCACCATCATCACCACCACCG TCACCCCCATCATTACCATCACCACCACCACCACCACCATGACCACCACC ACCACCACTCTCACCATCATCATCACTGTCACCACCACCACCACCACCAC CACCATCACTACCATCGTCACCATCACCACTACCTCCATCTCCACCACTA CCACCCCCACCACCACTCTCACCACCATCACCATCACCCCCATCATCACC ATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(627): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGTAGGGTGGGGGAAGGGTGCGGGTGGGGT TGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGCTGGGGAG GGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACTC CCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGT GGAGGAGGGGTGGGGGAGGGAGGGATGGGGTGGGGGAAGGGTGTGGGTGG GGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTC CCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGT GGGGGAAGGGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGGA GGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0263 a0001c0018t0001g0263	1	284	0.0035	634	c.712 others(651): Show c.712-2416_712-2415insCCCCCACCCCACCCCCTCCCACCCCACC CCACCCCTCCCACCCCACCCCACCCCTCCCACCCCACCCCACCCACACCC TTCCCCCACCCCACCTGCACCCTTCCCCCACCCCACCCCTCCCCCACCCC ACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCCACCCCAC CCCTCCCCCACCCACACCCTTCCCCCACCCCATCCCTCCCTCCCCCACCC CTCCTCCACCCCACCTGCACCCTTCCCCCACCCCACCCCTCCTCCACCCC ACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTCCCCCTCCCACCCCAC CCCACCCCTCCCCAGCCCCACCCATACCCTTCCCCCACTCCACCCCACCC CTCCCCAACCCCACCCGCACCCTTCCCCCACCCTACCCACCCCTCCCCAG CCCCACACACACCCTTCCCCCACCCCAACCCTCCCCAGCCCCACCCACAC CCTTCCCCCACCCCACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCC CACCCCACCCCAACCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAAC CCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCC CACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC57_chr17_82096470_82217842	82148365	G G	GTGGGTGG others(627): Show GTGGGTGGATGGGTAGATGGATGGATGGATGGTTGGGTGGGTGGGTGGAT GGATGGGTGGATGGATACATGGATGCGTGGGTGGGTGAAATGATGAATGG GTGGGTGGATGGATGGATAGATAGGTGGGTGGATGGATGGGTGGGTGAAT GGTAGATGGATGGATGGATGGGTGGGTGGGTAGATGGATAGATGGATGGG TGGGCAGATAGATGAATGGGTGGGTGGATGGGTAGATGGATGGATGGTTG GGTGGGTGGACAGATGGACGGGTGGATGAATACATGGATGGGTGGGTGGA TGGATGGATGGAAGGATAGATAGGTGGGTGGATGGATGGGTGGGTGGATG GATGGGTGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGG TGGGTGGGTGGATGGATGGGTGGGTGGGTAGATGGGTGGATGGATAGATG GATGGGTGGGGGGGATAAGTGGTTGGATGGTTAGACGGATGGATGGATGG ATGAATAGATAGGTGGGTGGATGGATGGGTGGGTGGATAGTGGATGGATG GATGGGTGGGTGGGTAGATGGGTAGATGGATGGATGGATGGGTGGGTGGA TGGATGGTAGATGGATGGATGGGTGGGTGGATACA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0027 a0002c0009t0002g0027	1	252	0.0040	634	c.245 others(653): Show c.2455+3194_2455+3195insTGTATCCACCCACCCATCCATCCATC TACCATCCATCCACCCACCCATCCATCCATCCATCTACCCATCTACCCAC CCACCCATCCATCCATCCACTATCCACCCACCCATCCATCCACCCACCTA TCTATTCATCCATCCATCCATCCGTCTAACCATCCAACCACTTATCCCCC CCACCCATCCATCTATCCATCCACCCATCTACCCACCCACCCATCCATCC ACCCACCCACCCATCCATCCACCCACCCACCCATCCATCCACCCACCCAC CCACCCATCCATCCACCCACCCATCCATCCACCCACCTATCTATCCTTCC ATCCATCCATCCACCCACCCATCCATGTATTCATCCACCCGTCCATCTGT CCACCCACCCAACCATCCATCCATCTACCCATCCACCCACCCATTCATCT ATCTGCCCACCCATCCATCTATCCATCTACCCACCCACCCATCCATCCAT CCATCTACCATTCACCCACCCATCCATCCACCCACCTATCTATCCATCCA TCCACCCACCCATTCATCATTTCACCCACCCACGCATCCATGTATCCATC CACCCATCCATCCACCCACCCACCCAACCATCCATCCATCCATCTACCCA TCCACCCA	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18			chr17	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(627): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCCCCCTCCCCTCCCCCCCCCTTCCCCTCCCCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CCCTTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0206 a0001c0001t0004g0206	1	256	0.0039	634	c.-45 others(655): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCT CCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCCCCCTCCCCTCCCCCCCCCTTCCCCTCCCCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCCCTTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CECR2_chr22_17364460_17563151	17432054	A A	ATTTGCCC others(627): Show ATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTT TGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCA CACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCC TGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCAC TCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTA TGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCA CTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGA ATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATT TCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTTGC CCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCC TGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGC CCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGT GGAATCACACAGCCCCACTTTGTGCCTGTATGGAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01943.hp1 HG02738.hp2 others(4): Show HG01928.hp2 HG01943.hp1 HG02738.hp2 HG03471.hp2 HG03927.hp2 HG04115.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0030 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0030 a0001c0001t0076	a0001c0001t0001g0125 a0001c0001t0001g0227 a0001c0001t0011g0136 others(4): Show a0001c0001t0001g0125 a0001c0001t0001g0227 a0001c0001t0011g0136 a0001c0001t0011g0172 a0001c0001t0030g0054 a0001c0001t0030g0204 a0001c0001t0076g0287	7	324	0.0216	634	c.127 others(653): Show c.127-45405_127-45404insTGCCCACTCTGGACATTTCCTGTAAG TGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGA CATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATT TGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGT GCCTGTATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACA CAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGT AAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTC TGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATG GATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACT TTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATC ACACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTC CTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCA CTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGT ATGGATTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CFAP61_chr20_20047532_20365698	20320485	A A	ATTATATA others(627): Show ATTATATATATTATATATGTAATATATATTATATATATTATATATGTAAT ATATATTATATATATTATATATATTATATATGCAATATATATTATATATT ACATATGTAATATATATATTATATATTACATATGTAATATATATTACATA TGTAATATATATTATATATGTAATATATATTACATATATTATATATGTAA TATATTATATATGTAATATATAATATATATTATATATGTAATATATAATA TATATTATATATGTAATATATAATATATATTATATATGTAATATATATTA TATATGTAATATATATTATATATGTAATATATAATATATATTATATATGT AATATATATTATATATGTAATATATATTATATATGTAATATATAATATAT ATTATATATGTAATATATATTATATATGTAATATATAATATATATTATAT ATGTAATATATATTATATATATAATATATATTATATATGTAATATATATT ATATATATTATATATGTAATATATATTATATATGTAATATATGTAATATA TATTATATATGTAATATATGTAATATATATTATATATGTAATATATGTAA TATATATTATATATGTAATATATGTAATATATATT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0007 a0009c0014t0007	a0009c0014t0007g0006 a0009c0014t0007g0006	1	236	0.0042	634	c.342 others(655): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATATTATATATTACATATGTAATATATATATTATATA TTACATATGTAATATATATTACATATGTAATATATATTATATATGTAATA TATATTACATATATTATATATGTAATATATTATATATGTAATATATAATA TATATTATATATGTAATATATAATATATATTATATATGTAATATATAATA TATATTATATATGTAATATATATTATATATGTAATATATATTATATATGT AATATATAATATATATTATATATGTAATATATATTATATATGTAATATAT ATTATATATGTAATATATAATATATATTATATATGTAATATATATTATAT ATGTAATATATAATATATATTATATATGTAATATATATTATATATATAAT ATATATTATATATGTAATATATATTATATATATTATATATGTAATATATA TTATATATGTAATATATGTAATATATATTATATATGTAATATATGTAATA TATATTATATATGTAATATATGTAATATATATTATATATGTAATATATGT AATATATATT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
CMIP_chr16_81439808_81716762	81704622	T T	TCTCCTCC others(627): Show TCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCCACCCTCCTCCCTG CCCCCTTACTCTCCTCCCTGCCCCTTAACCCTCCTCCCTGCTCCCCTCAC CCTCCTCCCTGTCCCCTCACCCTCCTCCCTCACCCTCCCCCTCCTCCCTC CCCCGTCCCTCCTCCCTCCCCCTCACCCTTCTCCCTGCCCCCTCACCCCC CTCCCTGCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCC TCACCCTCCTCCCTGCCCCTTCATCCTCCTCCCTGCCCCTCACCCTCCTC CCTGCCCCTTCATCCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCC TCACCCTCCTCCCTGCTCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCT CCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCC TCACCCTCCTCTCTTTCCCCTCACCTTCCTCCCTGCCCCTTCACCCGCCT CCCTGCCCACTCACCCTCCTCCCTGCCCCCGCACCTTCTTCCCTGCCCCC TCACCCTCCTCCCTGCCCCCTCACTCTCCTCCCTAACTTGTTCACCCTCC TCCCTACCCCTTCATTCTCCTCCCTGCCCCCCACC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp1 HG01884.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0192 a0001c0002t0004g0162 a0001c0002t0001g0192 a0001c0002t0004g0162	2	268	0.0075	634	c.209 others(651): Show c.2091+547_2091+548insCCCCCTCACCCTCCTCCCTGCCCCCCAC CCTCCTCCCTGCCCCCTTACTCTCCTCCCTGCCCCTTAACCCTCCTCCCT GCTCCCCTCACCCTCCTCCCTGTCCCCTCACCCTCCTCCCTCACCCTCCC CCTCCTCCCTCCCCCGTCCCTCCTCCCTCCCCCTCACCCTTCTCCCTGCC CCCTCACCCCCCTCCCTGCCCCTCACCCTCCTCCCTGCCCCCTCACCCTC CTCCCTGCCCCTCACCCTCCTCCCTGCCCCTTCATCCTCCTCCCTGCCCC TCACCCTCCTCCCTGCCCCTTCATCCTCCTCCCTGCCCCTTCACCCTCCT CCCTGCTCCCCTCACCCTCCTCCCTGCTCCCTCACCCTCCTCCCTGCCCC CTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCC TCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCTTCCTCCCTGCCCC TTCACCCGCCTCCCTGCCCACTCACCCTCCTCCCTGCCCCCGCACCTTCT TCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACTCTCCTCCCTAACTT GTTCACCCTCCTCCCTACCCCTTCATTCTCCTCCCTGCCCCCCACCCTCC TCCCTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81704622	T T	TCTCCTCC others(627): Show TCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCCACCCTCCTCCCTG CCCCCTTACTCTCCTCCCTGCCCCTTAACCCTCCTCCCTGCTCCCCTCAC CCTCCTCCCTGTCCCCTCACCCTCCTCCCTCACCCTCCCCCTCCTCCCTC CCCCGTCCCTCCTCCCTCCCCCTCACCCTTCTCCCTGCCCCCTCACCCCC CTCCCTGCCCCTCACCCTCCTCCCTGCCCCGTCACGCTCCTCCCTGCCCC TCACCCTCCTCCCTGCCCCTTCATCCTCCTCCCTGCCCCTCACCCTCCTC CCTGCCCCTTCATCCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCC TCACCCTCCTCCCTGCTCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCT CCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCC TCACCCTCCTCTCTTTCCCCTCACCTTCCTCCCTGCCCCTTCACCCGCCT CCCTGCCCACTCACCCTCCTCCCTGCCCCCGCACCTTCTTCCCTGCCCCC TCACCCTCCTCCCTGCCCCCTCACTCTCCTCCCTAACTTGTTCACCCTCC TCCCTACCCCTTCATTCTCCTCCCTGCCCCCCACC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	268	0.0037	634	c.209 others(651): Show c.2091+547_2091+548insCCCCCTCACCCTCCTCCCTGCCCCCCAC CCTCCTCCCTGCCCCCTTACTCTCCTCCCTGCCCCTTAACCCTCCTCCCT GCTCCCCTCACCCTCCTCCCTGTCCCCTCACCCTCCTCCCTCACCCTCCC CCTCCTCCCTCCCCCGTCCCTCCTCCCTCCCCCTCACCCTTCTCCCTGCC CCCTCACCCCCCTCCCTGCCCCTCACCCTCCTCCCTGCCCCGTCACGCTC CTCCCTGCCCCTCACCCTCCTCCCTGCCCCTTCATCCTCCTCCCTGCCCC TCACCCTCCTCCCTGCCCCTTCATCCTCCTCCCTGCCCCTTCACCCTCCT CCCTGCTCCCCTCACCCTCCTCCCTGCTCCCTCACCCTCCTCCCTGCCCC CTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCC TCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCTTCCTCCCTGCCCC TTCACCCGCCTCCCTGCCCACTCACCCTCCTCCCTGCCCCCGCACCTTCT TCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACTCTCCTCCCTAACTT GTTCACCCTCCTCCCTACCCCTTCATTCTCCTCCCTGCCCCCCACCCTCC TCCCTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(627): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT ATAATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATAT AATTATATATATATTTATATATAATTTTATATATAAATATATATAATTAT ATATATTTATGTATAAATATAACTTTATATATAAATATATATAATTTTAT ATATATAATTTTATATATAAATATATATAATTATATATATATATATAAAT ATATATAATTTTATATATAATATATATAATTTTATATATTTATATATAAA TATATATATAATTTATATATAAATATATAAAATTATATATAAATATATAT AATTTATATATAAATATATATAATTTATATATAAATATGTATAATTTTAT ATATATAAATAGATATAATTTTATATATTTATTTATATAAATTTTATATA TTTATATAAATATATATTTATATATAAAAATTTATATACAAATATATATA AATATATACAAATATATATATAAATTTATATAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02738.hp1 HG00738.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0054 a0001c0002t0001g0038 a0001c0001t0005g0054 a0001c0002t0001g0038	2	116	0.0172	634	c.56- others(651): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATATAATTTTATATATTTATATATAAATATA ATTTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTA TATATAAATATATATAATTATATATATTTATGTATAAATATAACTTTATA TATAAATATATATAATTTTATATATATAATTTTATATATAAATATATATA ATTATATATATATATATAAATATATATAATTTTATATATAATATATATAA TTTTATATATTTATATATAAATATATATATAATTTATATATAAATATATA AAATTATATATAAATATATATAATTTATATATAAATATATATAATTTATA TATAAATATGTATAATTTTATATATATAAATAGATATAATTTTATATATT TATTTATATAAATTTTATATATTTATATAAATATATATTTATATATAAAA ATTTATATACAAATATATATAAATATATACAAATATATATATAAATTTAT ATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(627): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATATATA TATAAATATATATATATTTATAAATATATAAATATATATATATTTATAAA TATATAAATATATATAAAAATATATATAAATATATAAAAAAATATAAATA TATATAAATATATAAATATATGTAAATATATATAAATATATATATAAATA TATATATAAATATATATATAAATATATATATAAATATATATATATAAATA TATATAAATATATAACTATATAAATAAATATATATAAATATATAAATATA TAAAAATATATATAAATATATATGTAAATATATAAATATATATAAATATA TATAAATATATATAAGTATATAAATATATATAAATATATATAAGTATATA AATATATATATAAATATATATAAGTATATAAATATATATATAAATATATA TAAGTATATAAATATATATAAATATATATAAGTATATAAATATATATATA AATATATATAAGTATATATAAATATATATAAATATATATAAGTATATATA AATATATAAAAATATATATAAGTATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0019	1	264	0.0038	634	c.181 others(653): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATTTACATATATTTATAT ATTTATATATATTTATATTTTTTTATATATTTATATATATTTTTATATAT ATTTATATATTTATAAATATATATATATTTATATATTTATAAATATATAT ATATTTATATATATATAAATATATTTATATTTATATATATTTACATATAT ATTTAGAATTACATATTTATATATATATTTATATTTATATATATTTATAT ATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CPS1_chr2_210551599_210684107	210619098	T T	TGTACTTT others(627): Show TGTACTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTG GACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATA AACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGG GTATATACCCAGTAATGGGATGGCTGGGTCAAATG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0030	1	340	0.0029	634	c.268 others(653): Show c.2687+2566_2687+2567insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTG CACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGC TGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATC CCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCC TTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAA TATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGG TTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTT ATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCA GTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGA ATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGAT TTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGG TACTTTTC	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	21/37		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(627): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGA GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGG GAGGGGAGGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0051 a0002c0051	a0002c0051t0006 a0002c0051t0006	a0002c0051t0006g0081 a0002c0051t0006g0081	1	126	0.0079	634	c.416 others(655): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCGTCCTCTCCCCCTC CCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCTCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTCACATC CCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(627): Show TGAGGAAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGGGAG GGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGAGGAGGGGGAGG GGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGGAGGGG GAGAGGACGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGA GAGGACGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGG GAGGGGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0039 a0039	a0039c0009 a0039c0009	a0039c0009t0001 a0039c0009t0001	a0039c0009t0001g0002 a0039c0009t0001g0002	1	126	0.0079	634	c.416 others(655): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTC CCCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCGTCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCGTCCTCTCCCCCTCCCCCTCCCCTCCCCGTCCTCTCCCCCTCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTC CCCTCCCCTCCCCTCCCCCTCCTCTCCCTCTCCCCTCCCCCTCCTCTCCC CCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCC CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATC CCCCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(627): Show CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCC ACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCCT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0144	1	418	0.0024	634	c.737 others(649): Show c.737+179_737+180insCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCC TTCCCCGGGCCCTGACCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC CCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCCT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(627): Show CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCGGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCCT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0145 a0002c0002t0001g0145	1	418	0.0024	634	c.737 others(649): Show c.737+179_737+180insCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCCGGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC CCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCCT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(627): Show CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00423.hp2 others(43): Show HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG02080.hp1 HG02293.hp2 HG03654.hp2 NA18939.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18983.hp2 NA18995.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19068.hp1 NA19081.hp2 NA19085.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0002c0015 a0002c0022 others(1): Show a0002c0002 a0002c0015 a0002c0022 a0013c0021	a0002c0002t0001 a0002c0015t0001 a0002c0022t0001 others(1): Show a0002c0002t0001 a0002c0015t0001 a0002c0022t0001 a0013c0021t0001	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0034 others(7): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0034 a0002c0002t0001g0114 a0002c0002t0001g0142 a0002c0002t0001g0153 a0002c0002t0001g0156 a0002c0015t0001g0002 a0002c0022t0001g0148 a0013c0021t0001g0050	46	418	0.1101	634	c.737 others(649): Show c.737+179_737+180insCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC CCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCCT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(627): Show CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCGCCACTCATGCCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCCT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0001 a0012c0023t0001	a0012c0023t0001g0115 a0012c0023t0001g0115	1	418	0.0024	634	c.737 others(649): Show c.737+179_737+180insCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC CCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCGCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCCT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(627): Show CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT TCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCCT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18970.hp2 NA18966.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	2	418	0.0048	634	c.737 others(649): Show c.737+179_737+180insCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCCTGAGAGCCCCCCTTTCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC CCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCCT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar
CXorf51A_chrX_146809106_146819744	146812210	T T	TATATATG others(627): Show TATATATGTATATACACACATATATACACACATATGTGTACATATATGTG TATATACGTATATACACATATATATGTGTACATATATGTGTATATATGTA TATACACACATATATGTGTACATATATGTGTGTATATGTATATACACATA TATATGTGTACATATATGTGTGTATATGTGTGTGTATATACATATATGTG TATATACACACACATATACACACATATATGTACACATATATATGTGTATA TACATATATACACATATATATGTGTATATACATATATACACATATATGTA CACATATATATGTGTATATACATATATACACATATATGTACACATATATA TGTGTATATACGTATATACACATATATGTACACATATGTGTGTATATATG TGTGTATATACATATATGTGTACATATATGTGTGTATATGTGTGTGTATA TACATATATGTGTATATACACACACATATACACACATATATGTACACAAA TATATGTGTATATACATATATACACATATATATGTGTATATACATATATA CACATATATGTACACATATATATGTGTATATACGTATATACACATATATG TACACATATGTGTGTGTATATATGTGTGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	634	c.19 others(645): Show c.1996_*1997insGTATATACACACATATATACACACACATATGTGT ACATATATGTGTATATACGTATATACACATATATATGTGTACATATATGT GTATATATGTATATACACATATATATGTGTATATATGTATATACACATAT ATTTGTGTACATATATGTGTGTATATGTGTGTGTATATACACATATATGT ATATACACACACATATACACACATATATGTACACATATATGTATATACAC ACATATATACACACATATGTGTACATATATGTGTATATACGTATATACAC ATATATATGTGTACATATATGTGTATATATGTATATACACATATATATGT GTACATATATGTGTATATATGTATATACACATATATATGTGTATATATGT ATATACACATATATATGTGTACATATATGTGTGTATATGTGTGTGTATAT ACACATATATGTATATACACACACATATACACACATATATGTACACATAT ATATGTGTATATACATATACACACATATATGTACACATATATGTGTGTAT ATACATATATACACATATATGTACACATATATATGTGTATATACGTATAT ACACATATATGTACACATATGTGTGTATATATGTGTGTATATACATATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1895		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812296	T T	TGTACATA others(627): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTACATATATGTGTATATATGTATATACACATATATATGTGTATATATG TATATACACATATATATGTGTACATATATGTGTGTATATGTGTGTATATA TACATATATGTGTATATACGTATATACACATGTGTATATACGTATATACA CACATATATGTGTACATATATGTGTGTATATGTGTGTGTATATACATATA TGTGTATATACGTATATACACATGTGTATATACGTATATACACACATATA TGTGTACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTATA TACGTATATACACATATATGTGTACATATATGTGTGTATATGTGTGTATA TACATATATGTGTATATACATATATACACATATATATGTGTGTATATGTG TGTGTATATACATATATGTGTATATACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	264	0.0076	634	c.19 others(645): Show c.1910_*1911insGTATATACGTATATACACATATATGTATATACAC ACACATATACACACATATATATGTGTATATATGTATATACACATATATGT ATATACACACATATACACACATATATGTACACATATATGTGTATATACGT ATATACACATATATGTATATACACACACATATACACACATATATGTACAC ATATATGTGTGTATATACGTATATACACATGTGTATATACGTATATACAC ATATATGTATATACACACACATATACACACATATATGTACACATATATGT GTGTATATACGTATATACACATGTGTATATACGTATATACACATATATGT ATATATACACACATATACACACATATATGTACACATATATATGTGTATAT ACATATATACACATATATATGTGTATATACATATATACACATATATGTAC ACATATATATGTGTATATACATATATACACATATATGTACACATATATAT GTGTATATACATATATACACATATATGTACACATATATATGTGTATATAC ATATATACACATATATGTACACATATATATGTGTATATACATATATACAC ATATATGTACACATATATATGTGTATATACATATATACACATATATGTAC	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1809		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812296	T T	TGTACATA others(627): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTACATATATGTGTATATATGTATATACACATATATATGTGTATATATG TATATACACATATATATGTGTACATATATGTGTGTATATGTGTGTATATA TACATATATGTGTATATACGTATATACACATGTGTATATACGTATATACA CACATATATGTGTACATATATGTGTGTATATGTGTGTGTATATACATATA TGTGTATATACGTATATACACATGTGTATATACGTATATACACATATATA TGTGTACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTATA TACGTATATACACATATATGTGTACATATATGTGTGTATATGTGTGTATA TACATATATGTGTATATACATATATACACATATATATGTGTGTATATGTG TGTGTATATACATATATGTGTATATACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	634	c.19 others(645): Show c.1910_*1911insGTATATACGTATATACACATATATGTATATACAC ACACATATACACACATATATATGTGTATATATGTATATACACATATATGT ATATACACACATATACACACATATATGTACACATATATGTGTATATACGT ATATACACATATATGTATATACACACACATATACACACATATATGTACAC ATATATATGTGTATATACGTATATACACATGTGTATATACGTATATACAC ATATATGTATATACACACACATATACACACATATATGTACACATATATGT GTGTATATACGTATATACACATGTGTATATACGTATATACACATATATGT ATATATACACACATATACACACATATATGTACACATATATATGTGTATAT ACATATATACACATATATATGTGTATATACATATATACACATATATGTAC ACATATATATGTGTATATACATATATACACATATATGTACACATATATAT GTGTATATACATATATACACATATATGTACACATATATATGTGTATATAC ATATATACACATATATGTACACATATATATGTGTATATACATATATACAC ATATATGTACACATATATATGTGTATATACATATATACACATATATGTAC	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1809		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812210	T T	TATATATG others(627): Show TATATATGTATATACACACATATATACACACATATGTGTACATATATGTG TATATACGTATATACACATATATATGTGTACATATATGTGTATATATGTA TATACACACATATATGTGTACATATATGTGTGTATATGTATATACACATA TATATGTGTACATATATGTGTGTATATGTGTGTGTATATACATATATGTG TATATACACACACATATACACACATATATGTACACATATATATGTGTATA TACATATATACACATATATATGTGTATATACATATATACACATATATGTA CACATATATATGTGTATATACATATATACACATATATGTACACATATATA TGTGTATATACGTATATACACATATATGTACACATATGTGTGTATATATG TGTGTATATACATATATGTGTACATATATGTGTGTATATGTGTGTGTATA TACATATATGTGTATATACACACACATATACACACATATATGTACACAAA TATATGTGTATATACATATATACACATATATATGTGTATATACATATATA CACATATATGTACACATATATATGTGTATATACGTATATACACATATATG TACACATATGTGTGTGTATATATGTGTGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	634	c.19 others(645): Show c.1902_*1903insATATATGTATATACACACATATATACACACATAT GTGTACATATATGTGTATATACGTATATACACATATATATGTGTACATAT ATGTGTATATATGTATATACACACATATATGTGTACATATATGTGTGTAT ATGTATATACACATATATATGTGTACATATATGTGTGTATATGTGTGTGT ATATACATATATGTGTATATACACACACATATACACACATATATGTACAC ATATATATGTGTATATACATATATACACATATATATGTGTATATACATAT ATACACATATATGTACACATATATATGTGTATATACATATATACACATAT ATGTACACATATATATGTGTATATACGTATATACACATATATGTACACAT ATGTGTGTATATATGTGTGTATATACATATATGTGTACATATATGTGTGT ATATGTGTGTGTATATACATATATGTGTATATACACACACATATACACAC ATATATGTACACAAATATATGTGTATATACATATATACACATATATATGT GTATATACATATATACACATATATGTACACATATATATGTGTATATACGT ATATACACATATATGTACACATATGTGTGTGTATATATGTGTGTATATAC	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1800		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812296	T T	TGTACATA others(627): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTACATATATGTGTATATATGTATATACACATATATATGTGTATATATG TATATACACATATATATGTGTACATATATGTGTGTATATGTGTGTATATA TACATATATGTGTATATACGTATATACACATGTGTATATACGTATATACA CACATATATGTGTACATATATGTGTGTATATGTGTGTGTATATACATATA TGTGTATATACGTATATACACATGTGTATATACGTATATACACACATATA TGTGTACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTATA TACGTATATACACATATATGTGTACATATATGTGTGTATATGTGTGTATA TACATATATGTGTATATACATATATACACATATATATGTGTGTATATGTG TGTGTATATACATATATGTGTATATACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	272	0.0074	634	c.19 others(645): Show c.1988_*1989insGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAC ATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTGT ATATATGTATATACACATATATATGTGTACATATATGTGTATATATGTAT ATACACATATATATGTGTACATATATGTGTATATATGTATATACACATAT ATATGTGTATATATGTATATACACATATATATGTGTACATATATGTGTGT ATATGTGTGTATATATACATATATGTGTATATACGTATATACACATGTGT ATATACGTATATACACACATATATGTGTACATATATGTGTGTATATGTGT GTGTATATACATATATGTGTATATACGTATATACACATGTGTATATACGT ATATACACACATATATGTGTACATATATGTGTGTATATGTGTGTGTATAT ACATATATGTGTATATACGTATATACACATATATGTGTACATATATGTGT GTATATGTGTGTATATACATATATGTGTATATACATATATACACATATAT ATGTGTGTATATGTGTGTGTATATACATATATGTGTATATACGTATATAC	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1886		chrX	TogoVar
DPEP1_chr16_89608642_89643433	89619039	T T	TGCTCCCC others(627): Show TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0206	1	250	0.0040	634	c.-10 others(653): Show c.-107+5337_-107+5338insTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCC TGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCT CCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCT CCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTC CCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EGF_chr4_109907883_110018766	109921253	T T	TAGAAACT others(627): Show TAGAAACTTCAGTTGTTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATT CCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTAC TGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGACACATGC ACACGTATGTTTATTGCAGCATTATTCACAATAGCAAAGACTTGGAACCA ACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATAT ACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTT GTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCA AGAACAAAAAACCAAACACCGCATATTCTGACTCATAGGTGGGAATTGAA CAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTG TGGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAAT GCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATAC ATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTA TAATAAAAATAATTTAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0239 a0001c0001t0014g0239	1	388	0.0026	634	c.127 others(651): Show c.127+7807_127+7808insAGTTCAACCATTGTGGAAGTCAGTGTGG CGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCC ATTACTGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGACA CATGCACACGTATGTTTATTGCAGCATTATTCACAATAGCAAAGACTTGG AACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCA CATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGT CCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTA TCGCAAGAACAAAAAACCAAACACCGCATATTCTGACTCATAGGTGGGAA TTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATAC CTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA AAGTATAATAAAAATAATTTAAAAAAAAAAAAAAAAAAAAAGAAACTTCA GTTGTT	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
FHIT_chr3_59742277_61256452	60861241	C C	CTGATATA others(627): Show CTGATATATATGATATATATCATATCTGATATATATGATATATATCATAT CTGATATATATGATATATATCATATCTGATATATATGATATATATCATAT CTGATATATGATATATATCATATCTGATATATGATATATATCATATCTGA TATATGATATATATCATATCTGATATATATGATATATATCATATCTGATA TATATGATATATATCATATCTGATATATATGATATATATCATATCTGATA TATATGATATATATCATATCTGATATATATGATATATATCATATCTGATA TATATGATATATATCATATATGATATATGATATATATCATATCATATATG ATATATGATATATATCATATCATATATGATATATGATATATATCATATCA TATATGATATATGATATATATCATATCATATATGATATATGATATATATG ATATATCATATCATATATGATATATGATATATATGATATATCATATCATA TATGATATATGATATATATGATATATCATATCATATAATATATGATATGA TATGATATGATATATATGATATATCATATCATATAATATATGATATATAT GATATATATCATATATCATATATATAATATATGAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	46	0.0217	634	c.-11 others(655): Show c.-110-39231_-110-39230insATCATATATTATATATATGATATA TGATATATATCATATATATCATATATTATATGATATGATATATCATATAT ATCATATCATATCATATCATATATTATATGATATGATATATCATATATAT CATATATCATATATGATATGATATATCATATATATCATATATCATATATG ATATGATATATCATATATATCATATATCATATATGATATGATATATATCA TATATCATATATGATATGATATATATCATATATCATATATGATATGATAT ATATCATATATCATATATGATATGATATATATCATATATCATATATGATA TATATCATATATATCAGATATGATATATATCATATATATCAGATATGATA TATATCATATATATCAGATATGATATATATCATATATATCAGATATGATA TATATCATATATATCAGATATGATATATATCATATATATCAGATATGATA TATATCATATATCAGATATGATATATATCATATATCAGATATGATATATA TCATATATCAGATATGATATATATCATATATATCAGATATGATATATATC ATATATATCAGATATGATATATATCATATATATCAGATATGATATATATC ATATATATCA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FLT4_chr5_180596506_180654600	180615696	T T	TTCTCCAC others(627): Show TTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCC ACTTCCTTTCGGAGCACTGGGGCCCGCCGGTCACCTCCCTTCTCCACTTC CGAAATCCACTTCCTTTCGGAGCACTGGGCCCACCGGTCACCTCCCTTCT CCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTT CCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTT TGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGC ACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGG CCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGGCCTG CCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACT GGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTT TGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCA CTTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCC TTTCGGAACACTGTGGCCCCGCTGGTCAACTCCCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0345 a0002c0002t0001g0345	1	388	0.0026	634	c.321 others(651): Show c.3219+670_3219+671insTGGGAGTTGACCAGCGGGGCCACAGTGT TCCGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAA AAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAG TGCTCCAAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCG GGGCCCCAGTGCTCCGAAAGACAGTGGATTTCGGAAGTGGAGAAGGGAGG TGACCGGCAGGCCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACC AGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCGGCGG GCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAG TGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTC CAAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAG GAAGTGGAGAAGGGAGGTGACCGGTGGGCCCAGTGCTCCGAAAGGAAGTG GATTTCGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCCAGTGCTCCGAA AGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAG TGGAGA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FOXK2_chr17_82514732_82609602	82586256	G G	GGGGGGGA others(627): Show GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGG AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTG GGGGAAAGGAGGAGAGGGGCGACCACAGGGAGGTCAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAATGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	308	0.0033	634	c.157 others(649): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAAGT CAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGCGACCACAGGGAGGTCAA AGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTG GGCGGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC AGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC GGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAG TGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGG GGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GPR173_chrX_53043789_53085615	53073915	A A	ATATATAT others(627): Show ATATATATTTATATTTATTTATATATATAAATATATATATTTATATTTAT TTATATATATAAATATATATATTTATATTTATATATATATATAAATATAT ATATTTATATATATATATAAATATATATATTTATATTTATTTATATATAT AAATATATATATTTATATTTATTTATATATATATAAATATATATATTTAT ATTTATATTTATATATTTATATTTATATATATAAATATATATATTTATAT TTATTTATATATATAAATATATATATTAATATATATTTATATATATAAAT ATATATATTTATATATAAATATATATTTATGTATATTTATATATAAATAT ATATATTTATATATATAAATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATAAATATATATATTTATATATAAATATATATAT TTATATATATATTTATATATAAATATATATATTTATATATAAATATATAT ATTTATATATATAAATATATATATTTATATATATAAATATATATATATTT ATATTTACAAATATATATATTTATATATATATTTATATTTATATATATTT ATATTTATATATATATATATAAATATATATTTATG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	208	0.0048	634	c.-97 others(651): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATATTTATATTTACAAATATATATATTTATATATATATTT ATATTTATATATATTTATATTTATATATATATATATAAATATATATTTAT GTATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(627): Show TAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0126 a0002c0003t0001g0126	1	308	0.0033	634	c.127 others(653): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTT CTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KIF25_chr6_167992671_168050091	167997407	G G	GGGGTCGG others(627): Show GGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGGGGCGGGGGAATCTGCAGAGATGGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGG GGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGTCGGG GGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGTCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAA TCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	375	0.0027	634	c.-20 others(645): Show c.-2062_-2061insGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGGGCGGGGGAAT CTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTG CAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCA GAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAG AGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAG GTGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		263		chr6	TogoVar
LHFPL3_chr7_104323603_104913561	104824186	T T	TATATATA others(627): Show TATATATATTATATATTATATATTATATATATAATATATATATTATATAT TATATATATAATATATATATTATATATTATATATATAATATATAATATAT ATTATATATAATATATTATATATTATATATTATATATATAATATATTATA TATTATATATTATATATATATTATATTATATATTATATATAATTATATAT ATATTATATATTATATATTATATATTATATATTATATATTATATATATTA TATATTATATATTATATATTATATATATTATATATTATATATACAATTAT ATATATTATATATATTATATATTATATAATATATTATATATATAATATAT ATTATATATTATATATTATATAATATATTATATATATAATATATTATATA TTATATATTATATAATATATTATATATTATATATATTATATATTATATAT TATATATTATATATATAATATATATTATATATTATATATTATATATATTA TATATATTATATATATTATATATAATATATATAATTGTATATATAATATA TAATATATAATATATATAATATATAATATATAATATATAATATATATAAT ATATTATATATAATATATAATATATAATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	86	0.0116	634	c.683 others(653): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATATATTATATATTATATATATAATATATATATTATATATTATATA TATAATATATAATATATATTATATATAATATATTATATATTATATATTAT ATATATAATATATTATATATTATATATTATATATATATTATATTATATAT TATATATAATTATATATATATTATATATTATATATTATATATTATATATT ATATATTATATATATTATATATTATATATTATATATTATATATATTATAT ATTATATATACAATTATATATATTATATATATTATATATTATATAATATA TTATATATATAATATATATTATATATTATATATTATATAATATATTATAT ATATAATATATTATATATTATATATTATATAATATATTATATATTATATA TATTATATATTATATATTATATATTATATATATAATATATATTATATATT ATATATTATATATATTATATATATTATATATATTATATATAATATATATA ATTGTATATATAATATATAATATATAATATATATAATATATAATATATAA TATATAATATATATAATATATTATATATAATATATAATATATAATATATA TAATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104824186	T T	TATATATA others(627): Show TATATATATTATATATTATATATTATATATATAATATATATATTATATAT TATATATATAATATATATATTATATATTATATATATAATATATATTATAT ATTATATATAATATATTATATATTATATATTATATATATAATATATTATA TATTATATATATATTATATTATATATTATATATAATTATATATATTTTAT ATATTATATATTATATATTATATATTATATATTATATATATTATATATTA TATATTATATATTATATATATTATATATTATATATACAATTATATATATT ATATATATTATATATTATATAATATATTATATATATAATATATATTATAT ATTATATATTATATAATATATTATATATATAATATATTATATATTATATA TTATATAATATATTATATATTATATATATTATATATTATATATTATATAT TATATATATAATATATATTATATATTATATATTATATATATTATATATAT TATATATATTATATATAATATATATAATTGTATATATAATATATAATATA TAATATATATAATATATAATATATAATATATAATATATAATATATATAAT ATATTATATATAATATATAATATATAATATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0073 a0001c0001t0004g0073	1	86	0.0116	634	c.683 others(653): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATATATTATATATTATATATATAATATATATATTATATATTATATA TATAATATATATTATATATTATATATAATATATTATATATTATATATTAT ATATATAATATATTATATATTATATATATATTATATTATATATTATATAT AATTATATATATTTTATATATTATATATTATATATTATATATTATATATT ATATATATTATATATTATATATTATATATTATATATATTATATATTATAT ATACAATTATATATATTATATATATTATATATTATATAATATATTATATA TATAATATATATTATATATTATATATTATATAATATATTATATATATAAT ATATTATATATTATATATTATATAATATATTATATATTATATATATTATA TATTATATATTATATATTATATATATAATATATATTATATATTATATATT ATATATATTATATATATTATATATATTATATATAATATATATAATTGTAT ATATAATATATAATATATAATATATATAATATATAATATATAATATATAA TATATAATATATATAATATATTATATATAATATATAATATATAATATATA TAATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104824186	T T	TATATATA others(627): Show TATATATATTATATATTATATATTATATATATAATATATATATTATATAT TATATATATAATATATATATTATATATTATATATATAATATATATTATAT ATTATATATAATATATTATATATTATATATTATATATATAATATATTATA TATTATATATTATATATATATTATATTATATATTATATATAATTATATAT ATATTATATATTATATATTATATATTATATATTATATATTATATATATTA TATATTATATATTATATATTATATATATTATATATTATATATACAATTAT ATATATTATATATATTATATATTATATAATATATTATATATATAATATAT ATTATATATTATATATTATATAATATATTATATATATAATATATTATATA TTATATATTATATAATATATTATATATTATATATATTATATATTATATAT TATATATTATATATATAATATATATTATATATTATATATTATATATATTA TATATATTATATATATTATATATAATATATATAATTGTATATATAATATA TAATATATAATATATATAATATATAATATATAATATATAATATATATAAT ATATTATATATAATATATAATATATAATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0019	1	86	0.0116	634	c.683 others(653): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATATATTATATATTATATATATAATATATATATTATATATTATATA TATAATATATATTATATATTATATATAATATATTATATATTATATATTAT ATATATAATATATTATATATTATATATTATATATATATTATATTATATAT TATATATAATTATATATATATTATATATTATATATTATATATTATATATT ATATATTATATATATTATATATTATATATTATATATTATATATATTATAT ATTATATATACAATTATATATATTATATATATTATATATTATATAATATA TTATATATATAATATATATTATATATTATATATTATATAATATATTATAT ATATAATATATTATATATTATATATTATATAATATATTATATATTATATA TATTATATATTATATATTATATATTATATATATAATATATATTATATATT ATATATTATATATATTATATATATTATATATATTATATATAATATATATA ATTGTATATATAATATATAATATATAATATATATAATATATAATATATAA TATATAATATATATAATATATTATATATAATATATAATATATAATATATA TAATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124471506	A A	ATATATAA others(627): Show ATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATT ACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATAT ATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTA TATTTATATATATATTTATACATATTTATGTATATTTATATATATATTTA TATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATT TATATATATTTATATATTTATGTCTATATTTATATATATTTATATATTTA TGTATAAATTTATATATATTTATATGTATTTATATATATATTTATATGTA TTTATATATATTTATATATTTATATGTATTTATACATATATATTTATATG TATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATATTATTTATATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATTTATATATATTTATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	260	0.0039	634	c.125 others(651): Show c.125+9520_125+9521insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATACATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTCTATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATATTATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471506	A A	ATATATAA others(627): Show ATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATT ACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATAT ATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTA TATTTATATATATATTTATATATATTTATGTATATTTATATATATATTTA TATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATT TATATATATTTATATATTTATGTCTATATTTATATATATTTATATATTTA TGTATAAATTTATATATATTTATATGTATTTATATATATATTTATATGTA TTTATATATATTTATATATTTATATGTATTTATACATATATATTTATATG TATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATATTATTTATATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATTTATATATATTTATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01261.hp1 others(7): Show HG00099.hp1 HG00639.hp2 HG01261.hp1 HG02129.hp2 HG02132.hp2 HG02683.hp2 HG03688.hp1 HG03704.hp2 HG06807.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0016 a0001c0001t0001 a0002c0002t0001 a0002c0002t0016	a0001c0001t0001g0032 a0001c0001t0001g0104 a0001c0001t0001g0106 others(7): Show a0001c0001t0001g0032 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0130 a0001c0001t0001g0218 a0002c0002t0001g0039 a0002c0002t0001g0079 a0002c0002t0001g0176 a0002c0002t0001g0209 a0002c0002t0016g0052	10	260	0.0385	634	c.125 others(651): Show c.125+9520_125+9521insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTCTATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATATTATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(627): Show ATATATTTATATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATATATTTTTATATATATTTATATATATTTTTATATATAG TTATATATATTTATATATAGTTATATATATTTATGTATAGTTATATATAT TTATGTATAGTTATATATAGTTATGTATAGTTATATATATAGTTATGTAT AGTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATAT ATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTT ATATATATATATTTTTATATATATAGTTATATATATATATTTTTATATAT ATAGTTATATATATATTTATATATATAGTTATATATTTATATATATTTAT ATATATTTATATATATATTTATATATTTATTTATATATATTTATATATGT ATTTATATATATTTATATATATTTATATGTATTTATATATATTTATATAT ATTTATATATATATATATAAATATATTTATATATATAAATATAAATATTT ATATATATTTATATATATTTATATATATATTTATGTATATTTATATATAT TTATATATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19081.hp2 NA18942.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0175 a0001c0001t0003g0202 a0001c0001t0001g0175 a0001c0001t0003g0202	2	260	0.0077	634	c.125 others(651): Show c.125+9673_125+9674insATTTATATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATATATTTTTATATATATTTAT ATATATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTT ATGTATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTT ATATATATAGTTATGTATAGTTATATATATAGTTATATATATATATTTTT ATATATATAGTTATATATATATATTTTTATATATATAGTTATATATATAT ATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATAT ATATATATTTTTATATATATAGTTATATATATATTTATATATATAGTTAT ATATTTATATATATTTATATATATTTATATATATATTTATATATTTATTT ATATATATTTATATATGTATTTATATATATTTATATATATTTATATGTAT TTATATATATTTATATATATTTATATATATATATATAAATATATTTATAT ATATAAATATAAATATTTATATATATTTATATATATTTATATATATATTT ATGTATATTTATATATATTTATATATATATTTATGTATATTTATATATGT ATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(627): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCTCCTC CCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTCCCCTCC CCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCCT TCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCCTCC CCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCC CTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCC TCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCC TCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCC CTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTG CCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCC CACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCC CCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01255.hp2 HG01261.hp1 others(10): Show HG00639.hp2 HG01255.hp2 HG01261.hp1 HG01891.hp1 HG02280.hp1 HG02809.hp1 HG02818.hp1 HG02897.hp2 HG02976.hp1 HG03209.hp1 HG03540.hp1 HG03831.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0025 a0002c0002 others(2): Show a0001c0001 a0001c0025 a0002c0002 a0002c0009 a0002c0012	a0001c0001t0003 a0001c0025t0011 a0002c0002t0003 others(2): Show a0001c0001t0003 a0001c0025t0011 a0002c0002t0003 a0002c0009t0001 a0002c0012t0001	a0001c0001t0003g0035 a0001c0001t0003g0193 a0001c0025t0011g0046 others(10): Show a0001c0001t0003g0035 a0001c0001t0003g0193 a0001c0025t0011g0046 a0001c0025t0011g0226 a0002c0002t0003g0009 a0002c0002t0003g0084 a0002c0002t0003g0107 a0002c0009t0001g0237 a0002c0012t0001g0011 a0002c0012t0001g0105 a0002c0012t0001g0146 a0002c0012t0001g0148 a0002c0012t0001g0272	13	278	0.0468	634	c.115 others(651): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCTC CTCCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTCCCC TCCCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTC CCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCC TCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTC CCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCC CCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGC CCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTC CCCCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGC TTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCT CCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTC TCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCACCCCTCCCCTCCC CTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(627): Show AAGGGGGGAAGGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAG GAGGGGGATGGAGGAAGGCGGAAAGGGGGGAGGGGAGAAGGGGAGGGGCA GGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAG GGGGAAAGGGGTGGGGGGAAGGGGGGGAAGGGGAAAGGGGTGAGGGGAAG GGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGGAGGGGAGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGG GGGGAAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGGAGGGGGA GGGGAGGGGGGGAGGGGAGGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGG AGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGA GGGGGAGGGAGGGGGAGTGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGG GGGAGGGGGAGGGAGGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0261 a0002c0002t0002g0261	1	272	0.0037	634	c.250 others(649): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCACTCCCCCTCCCT CCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACT CCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCCC TCCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCT TCCCCCCTACCCTCCCCCTCCCCCCTCCCCTCCCCCCTCTCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTT CCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCCTTCCCCCCACCCCTT TCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCT CCCCCTGCCCCTCCCCTTCTCCCCTCCCCCCTTTCCGCCTTCCTCCATCC CCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCCTTCCC CCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MPPED1_chr22_43407014_43512848	43432876	A A	AAAGGGAG others(627): Show AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGA AAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAG AAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAA GGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0203 a0001c0007t0002g0203	1	250	0.0040	634	c.225 others(651): Show c.225-2158_225-2157insAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGAAAGGGAGGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AAAGGGAGGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGG GAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(627): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCC TCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCT CCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTC CCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0008 a0003c0003t0001g0008	1	140	0.0071	634	c.114 others(653): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCC TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCC CCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCC CTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCT CCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTTA others(627): Show ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTATATATATTTTTATATATATAAAATCTTAT TTTATATATTATATATATATAAAATCTTATTTTATATATTATATATATAT AAAATCTTATTTTATATATTATATATATATAAAATCTTATTTTATATATA TTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATA TATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATTTTATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0073 a0001c0001t0018g0073	1	330	0.0030	634	c.-5+ others(649): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATAT ATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAA AATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATA TAAAATATATATAAAATAAGATTTTATATATATATAATATATAAAATAAG ATTTTATATATATATAATATATAAAATAAGATTTTATATATATATAATAT ATAAAATAAGATTTTATATATATAAAAATATATATAAATATATATAAAAT AAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAA AATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(627): Show ACATATATATGTTCATATATATACACACATATATATGTTCATATATATAT TCATATATATATGTTCATATATATTCATATATATGTTCATATATATATTC ATATATATGTTCATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATGTTCATATATATGTTCATATATAT ATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0221 a0001c0001t0009g0221	1	364	0.0028	634	c.394 others(649): Show c.394-586_394-585insCACACATATATATGTTCATATATATATTCA TATATATATGTTCATATATATTCATATATATGTTCATATATATATTCATA TATATGTTCATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATGTTCATATATATGTTCATATATATATG TTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATGTTCATATA TATA	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(627): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATGTTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	364	0.0028	634	c.394 others(649): Show c.394-573_394-572insGTTCATATATATTCATATATATGTTCATAT ATATATTCATATATATGTTCATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589060	C C	CATATATA others(627): Show CATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCA TATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATG TTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATA TGTTCATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATGTTCATATATATATTCAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	364	0.0028	634	c.394 others(649): Show c.394-573_394-572insGTTCATATATATTCATATATATGTTCATAT ATATATTCATATATATGTTCATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT ATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MUC4_chr3_195741771_195816929	195760459	A A	AGCTGGGA others(627): Show AGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGGCG TCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGG ATGGATGGAGGGGGCTGGGAAGGGGTCCAGCGCTAGGATGGATGGAGGGG GCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTTGGAAGGCGT CCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGAT GGAGTGGAGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGC TGGGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTC CAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATG GAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGATGGAGGGGGC TGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCC AGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATG GAGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGC TGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0009 a0009	a0009c0006 a0009c0006	a0009c0006t0001 a0009c0006t0001	a0009c0006t0001g0101 a0009c0006t0001g0101	1	249	0.0040	634	c.148 others(653): Show c.14848+424_14848+425insCCCCTCCATCCATCCTAGCGCTGGAC GCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCC CCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCCACTCCAT CCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGAC GCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTCCCAGCCC CCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATC CTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGAC CCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCC CTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCC TAGCGCTGGACGCCTTCCAAGCCCCCTCCATCCATCCTAGCGCTGGACGC CTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCCAGCCCCC TCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCT AGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCC TTCCCAGC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(627): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGA GGGGGCTGGGAAGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAG GCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTA GGATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGA GGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAG GCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTA GGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01258.hp2 HG01255.hp1 HG01258.hp2	a0099 a0100 a0099 a0100	a0099c0119 a0100c0120 a0099c0119 a0100c0120	a0099c0119t0001 a0100c0120t0001 a0099c0119t0001 a0100c0120t0001	a0099c0119t0001g0031 a0100c0120t0001g0091 a0099c0119t0001g0031 a0100c0120t0001g0091	2	249	0.0080	634	c.148 others(653): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTG CTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCC CAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCAT CCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCT GGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCA GCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTC CATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(627): Show AATATATATATTTAAATATAAGTATATGTAAATATATATATTTCAATATA AGTATATGTAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATTTCAATATAAGTATGTATATAAATA TATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAG TATGTATATAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTC AATATAAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATATATATAAAAATATATATATTTCAATATAAGTATATATATAAAAA TATATATATTTAAATATAAGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0098 a0001c0002t0003g0098	1	326	0.0031	634	c.358 others(651): Show c.358+3191_358+3192insATTTAAATATAAGTATATGTAAATATAT ATATTTCAATATAAGTATATGTAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATTTCAATATAAGT ATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATAT ATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA ATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAA GTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATATAAAAATATATATATTTCAATATAAGT ATATATATAAAAATATATATATTTAAATATAAGTATATATATAAAAATAT ATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(627): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTC CCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCT CCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCC CCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCT TCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTCC TCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCTTCCTCCCTCT CTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTTTCTTTCCTTCCCTCCTTC CTTTCCTTCCCTTCTTTCCCTCCTTCCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03540.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0079 a0001c0001t0021g0053 a0001c0001t0001g0079 a0001c0001t0021g0053	2	104	0.0192	634	c.153 others(651): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAG AGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGA GGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGG AGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGG AAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAG GGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGG GAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAG GGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGA GGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGG AGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGG GAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAA GGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(627): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTTAAACTATA TAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATA GTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTAGTTTAT ATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATAT AGTTTAAAACTATATAGTTTATATAGTTTAAAACTATAGTTTATATAGTT TAAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATATA GTTTATATAGTTTTAAACTATATAGTTTAAACTATATAGTTTTAAACTAT ATAAACTATATAGTTTTAAACTAGTTTATATATAGTTTTAAACTAGTTTA AACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAA CTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTT TAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGTA GTTTTAAACTATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTA GTTTATATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18990.hp2 NA18963.hp1 NA18990.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0121 a0002c0007t0001g0185 a0002c0007t0001g0121 a0002c0007t0001g0185	2	244	0.0082	634	c.342 others(653): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTAT ATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAAC TATATAAACTATATAGTTTAAACTATATAGTTTAAAACTATATAAACTAT ATAGTTTTAAACTATATAAACTATAGTTTTAAACTATATAAACTATATAG TTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTT TTAAACTATATAAACTAGTTTAAAACTATATATAAACTATATAGTTTAAA ACTATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAAC TATAAACTATATAGTTTAAAACTATATAGTTTAAAACTATAAACTATATA GTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar

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