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
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(516): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAT TGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGT GAGAAGGCTCAGGCATTGATCAGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0116 a0001c0002t0027g0116	1	214	0.0047	523	c.565 others(540): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10			chr10	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(516): Show ATATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATAATTAT ATATATAATTTTATATATAATTATATATATAATTTTATATATAATTATAT ATATAATTTTATATATAATTATATATATAATTTTATATATATATAATTAT ATATATTATATAATTTTATATATATAATTATATATATTATATAATTATAT ATATAATTTTATATATATATAATTATATATACAATTTTATAATATATATA ATTATATATACAATTATATATATATATAATTATATATATATAATTGTATA TATAATTTTATATATATAATTATATATAATTTTATATATATATAATTATA TATATAATTATATATATATAATTATATATATTTATATATATATATAATTA TATATATAATTTTATATATATAATTTTATATAATTTTATATATAATTATA TATATAATTTTATGTATATAATTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0130 a0003c0003t0014g0130	1	330	0.0030	523	c.907 others(538): Show c.907+205_907+206insAAATTATATACATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATAAT TATATATATATAAAATTATATATAATTATATATATAAAATTATATATACA ATTATATATATATAATTATATATATATATAATTGTATATATAATTATATA TATTATAAAATTGTATATATAATTATATATATATAAAATTATATATATAA TTATATAATATATATAATTATATATATAAAATTATATAATATATATAATT ATATATATATAAAATTATATATATAATTATATATAAAATTATATATATAA TTATATATAAAATTATATATATAATTATATATAAAATTATATATATAATT ATATATAAAATTATATATATAATTATATATAAAATTATATATATAATTAT ATATAAAATTATATATATAATTATATATAAAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN11_chr6_44153820_44189401	44181824	C C	CCACACTC others(516): Show CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACACACACATACAGACACAACCACACCACACACACACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA CACACTCACATACAGACACAACCACACCACACACACACACACACATACAG ACACAACCACACCACACTCACACACACACACACAGACACAACCACACCAC ACTCACACACACACACACTCACATACAGACACAACCACACCACACACACA CACACACACAGACACAACCACACCACACACACACCCAACCACACCACACT CACACACACACACACACTCACATACAGACACAACCACACCACACACACAC ATACACACATACAGACACAACCACACCACACTCACACACACATACACACT CACATACAGACACAACCACACCACACTCACACACACATACACACTCACAT ACAGACACAACCACACCACACTCA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0129 a0003c0003t0003g0129	1	460	0.0022	523	c.193 others(540): Show c.1938+509_1938+510insTCACACACACACATACACACTCACATAC AGACACAACCACACCACACACACACACACACATACAGACACAACCACACC ACACACACACACACACACATACACACTCACATACAGACACAACCACACCA CACTCACACACACACACACACTCACATACAGACACAACCACACCACACAC ACACACACACATACAGACACAACCACACCACACTCACACACACACACACA GACACAACCACACCACACTCACACACACACACACTCACATACAGACACAA CCACACCACACACACACACACACACAGACACAACCACACCACACACACAC CCAACCACACCACACTCACACACACACACACACTCACATACAGACACAAC CACACCACACACACACATACACACATACAGACACAACCACACCACACTCA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDHR2_chr5_176544342_176600824	176592096	A A	ATGGTGGT others(516): Show ATGGTGGTGGTGATGGTGATGGTAGTGATGGTGATGGTGGTGATGATGGT GATGATGACAATGATGATGGTGGTGGTGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGATGATGACGATGGTGG TGTTGGTGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGG TGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGATGA CGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGA TGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTG TGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGATGATGACG ATGGTGGTGGTGGTGGTGGTGTTGGTGTTGAGGTGATGGTGGTGATGGTA GTGGTGGTGGGTGATGGTGGTGGCAATGGTGATGGTGGTGGTCATGGTGG TCATGGTAGTGGTGGCAGTTATTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01074.hp1 others(5): Show HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01891.hp2 HG02451.hp1 HG02647.hp1 HG02818.hp2 HG06807.hp1	a0001 a0001	a0001c0008 a0001c0013 a0001c0048 a0001c0008 a0001c0013 a0001c0048	a0001c0008t0001 a0001c0013t0001 a0001c0048t0001 a0001c0008t0001 a0001c0013t0001 a0001c0048t0001	a0001c0008t0001g0165 a0001c0008t0001g0166 a0001c0008t0001g0178 others(3): Show a0001c0008t0001g0165 a0001c0008t0001g0166 a0001c0008t0001g0178 a0001c0013t0001g0002 a0001c0013t0001g0029 a0001c0048t0001g0315	8	344	0.0233	523	c.373 others(540): Show c.3735-530_3735-529insGTGATGGTTGTGATGGTGATGGTGGTGA TGATGGTGATGATGACGATGGTGGTGTTGGTGGTGTTGGTGTTGAGGTGA TGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGG TGATGGTGATGGTGGTGATGATGACGATGGTGGTGATGATGGTGTTGGTG TTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTG GTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTTGTGATGGTGATG GTGGTGATGATGGTGATGATGACGATGGTGGTGGTGGTGGTGGTGTTGGT GTTGAGGTGATGGTGGTGATGGTAGTGGTGGTGGGTGATGGTGGTGGCAA TGGTGATGGTGGTGGTCATGGTGGTCATGGTAGTGGTGGCAGTTATTGTG GTGGTGGTGATGGTGATGGTAGTGATGGTGATGGTGGTGATGATGGTGAT GATGACAATGATGATGGTGGTGGTGGTGTTGGTGTTGAGGTGATG	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650979	G G	GACTGTGA others(516): Show GACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGG ACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGT GTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTG AGGTGTGACTGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGA GGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACT GTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTG GACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGG TGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGT GAGGTGTGACTGAGGTGTGACTGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	91	0.0110	523	c.177 others(542): Show c.1779-2009_1779-2008insACTGTGAGGCGTGGACTGTGAGGCGT GGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAG GTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTG TGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGA CTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGT GTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCATGGACTGTG AGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGA GGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACT GTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTG ACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGG TGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGACTGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720830	C C	CCCCCTTC others(516): Show CCCCCTTCCTACCTCCCCCTTCCTCCCTGCCCCCCCCCTTCCTCCTCCCC TCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCTCCCCCTCCCTCCCCTT CCCCCCCTTCCCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCCTTC CCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCTT CCTCCCTCCCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCCTCCC CCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCC CCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCC CCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCC TTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCC CCTTCCTCCCTCCTCCTTTCCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0010 a0002c0001t0002g0010	1	354	0.0028	523	c.69 others(534): Show c.6925_*6926insCCCCTTCCTACCTCCCCCTTCCTCCCTGCCCCCC CCCTTCCTCCTCCCCTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCTC CCCCTCCCTCCCCTTCCCCCCCTTCCCCCTTCCTTCCTTCCTCCCTCCCT CCTCCCTTCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCC TTCCTCCGTCCCCTTCCTCCCTCCCCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCTTCCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCC TCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCC TCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCC TTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCT CCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTT	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4829		chr9	TogoVar
CHODL_chr21_18239833_18272370	18251520	T T	TAAATATT others(516): Show TAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAA TAAATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAAT AAATATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAA ATATTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATAT TTATTTTATTTATTTTAATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	402	0.0025	523	c.80- others(538): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAATATTT ATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CROCC2_chr2_240901336_240998311	240924930	C C	CCCCCACA others(516): Show CCCCCACACTGACCCGGTCCCCACACTGACCCGGCCCCCCACACTAACCC AGTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAA CCCAGTCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACT AACCCAGTCCCCACACTAACCCAGCCCCCAACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCC CCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCACACTGACCCGGC CCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTGACCCAG CCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCC GGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTGAC CCGGCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTA ACCCAGTCCCCCACACTAACCCAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03225.hp2 HG03453.hp2 HG02970.hp2 HG03225.hp2 HG03453.hp2	a0019 a0020 a0058 a0019 a0020 a0058	a0019c0015 a0020c0026 a0058c0027 a0019c0015 a0020c0026 a0058c0027	a0019c0015t0001 a0020c0026t0001 a0058c0027t0003 a0019c0015t0001 a0020c0026t0001 a0058c0027t0003	a0019c0015t0001g0028 a0020c0026t0001g0046 a0058c0027t0003g0026 a0019c0015t0001g0028 a0020c0026t0001g0046 a0058c0027t0003g0026	3	350	0.0086	523	c.489 others(538): Show c.489-790_489-789insACACTGACCCGGTCCCCACACTGACCCGGC CCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCC GGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTGAC CCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCAACACT AACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGCCCCCCA CACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCC CCACACTGACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCC CCCACACTGACCCAGCCCCCACACTGACCCAGTCCCCACACTAACCCGGC CCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCC AGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCACACTAACC CGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(516): Show TGAGGAAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGGGAG GGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGAGGAGGGGGAGG GGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGGAGGGG GAGAGGACGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGG GAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0023 a0023	a0023c0095 a0023c0095	a0023c0095t0002 a0023c0095t0002	a0023c0095t0002g0124 a0023c0095t0002g0124	1	126	0.0079	523	c.416 others(544): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTC CCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCGTCCTCTC CCCCTCCCCCTCCCCTCCCCGTCCTCTCCCCCTCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCTCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(516): Show TGAGGAAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGGGAG GGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGAGGAGGGGGAGG GGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGGAGGGG GAGAGGACGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGGG GGAGGGGGAGGGGGAGGGGGAGGGGGGGGGAGGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0025 a0025	a0025c0096 a0025c0096	a0025c0096t0067 a0025c0096t0067	a0025c0096t0067g0116 a0025c0096t0067g0116	1	126	0.0079	523	c.416 others(544): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCCTCCCCCCCCCTCCCCCTCCCCCTCCCCCTCC CCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCGTCCTCTC CCCCTCCCCCTCCCCTCCCCGTCCTCTCCCCCTCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCTCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CUL4A_chr13_113204613_113272108	113232190	C C	CTGCCACC others(516): Show CTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCC ACCACCACCTGTCCACCACCATTACTGTCACCACTACCTGCCCACCACCA TTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACCACCC GCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACC ACCATTACTGTCACCACCACCCGCCCACCACCATTACTGCTGCCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTG CTGCCACCACTACCCGCCCACCACTATTACTGCTGCTGCCACCACCAGTA TTACTGTCACCGCCACCACCGCTATTACTACTGCCACCACCACCTGTCCA CCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCA CTACCCGCCCACCACCATTACTGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	396	0.0025	523	c.513 others(538): Show c.513-987_513-986insTGCCACCACCAGTATTACTGTCACCGCCAC CACCGCTATTACTACTGCCACCACCACCTGTCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACC ATTACTGTCACCACCACCCGCCCACCACCATTACTGCTGCCACCACTACC CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTG CCACCACTACCCGCCCACCACCATTACTGTCACCACCACCCGCCCACCAC CATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACT GCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTAC TGCCACCACCACCTGTCCACCACCATTACTGTCACCACTACCTGCCCACC ACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGT	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
ERICH1_chr8_659200_736224	676266	A A	ACGCGGCG others(516): Show ACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGG ACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCG GCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGC GCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACA GAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAG GACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCG GCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGGCGC GGCGGCCCCTCGTGAGGACAGAGA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0306 a0001c0003t0002g0306	1	378	0.0027	523	c.305 others(540): Show c.305-2220_305-2219insTCTCTGTCCTCACGAGGGGCCGCCGCGC CTCTGTCCTCGCCGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGCCG CCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCGCCGAG GGGGCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTGTCCTCA CGAGGGGCCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTGTC CTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGCCT CTGTCCTCACGAGGGGCCGCCGCGCCTCTGTCCTCACGAGGGGCCGCCGC GTCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCACGAGGGGCC GCCGCGCCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAG GGGGCGCCGCGTCTCTGTCCTCGCCGAGGGGCCGCCGCGTCTCTGTCCTC GCCGAGGGGGCGCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATAAA others(516): Show TATATAAATATATAAAAATATATAAATATATAAATATATAAAAATATATA AATACATAAATATATAAATATATAAATATATATACATAAATATATAAATA TATAAATATATAAATATATAAATATATAAATACATAATATATAAATATAA AATATATATAATATATAAAATATATTAAAAATATAAAAATATATATAAAA AATATATAAATATATAAAAATATATAAAAAATATATACACATATAAATAT ATATAAAAATATATAAATATATATAAAAATATATAAATATATATTATATA TAAATATATAATATATAAATATATATAAATATATACAATATATAAATATA TATAAATATATACAATATATAAATATATATAAATATATACAATATATAAA TATATATAAATATATACAATATATAAATATATATAAATATATACAATATA TAAATATATATAAATATATATAATATATAAATATATATAAATATATACAA TATATAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	344	0.0029	523	c.617 others(540): Show c.617-1534_617-1533insTATATATATTTATATATTTATATATTGT ATATATTTATATATATTTATATATTATATATATTTATATATATTTATATA TTGTATATATTTATATATATTTATATATTGTATATATTTATATATATTTA TATATTGTATATATTTATATATATTTATATATTGTATATATTTATATATA TTTATATATTGTATATATTTATATATATTTATATATTATATATTTATATA TAATATATATTTATATATTTTTATATATATTTATATATTTTTATATATAT TTATATGTGTATATATTTTTTATATATTTTTATATATTTATATATTTTTT ATATATATTTTTATATTTTTAATATATTTTATATATTATATATATTTTAT ATTTATATATTATGTATTTATATATTTATATATTTATATATTTATATATT TATATATTTATGTATATATATTTATATATTTATATATTTATGTATTTATA TATTTTTATATATTTATATATTTATATATTTTTATATATTTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(516): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATAAATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAA ATACATAAATATATAAATATATAAATATATAAATATATAAATATATATAA GTACATATAAATATATATACATAAATATATAAATATATAAATATATAAAT ATATAAATACATAATATATATAAATATAAAATATATATAATATATAAAAT ATATTAAAAATATAAAAATATATATAAAAAATATATAAATATATAAAAAT ATATAAAAAATATATACACATATAAATATATATAAAAATATATAAATATA TATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	344	0.0029	523	c.617 others(540): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATA TTTATATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTT TTATATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTT TATATATTATATATATTTTATATTTATATATATTATGTATTTATATATTT ATATATTTATATATTTATATATTTATGTATATATATTTATATGTACTTAT ATATATTTATATATTTATATATTTATATATTTATATATTTATGTATTTAT ATATTTTTATATATTTATATATTTATATATTTATATATATTTATATATTT ATATATTTATATATATTTATATATATTTATATATTTATATATTTTTATAT ATTTATATATTTTTATATATTTATATTTATATATTTATTTATTTATATAT TTATATATTATATATTTATATTTATATATGTATATATTTTTATATATTTT TATTTATATATTTATATATTTATATATATTTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(516): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATAAAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAA ATACATAAATATATAAATATATAAATATATAAATATATAAATATATATAA GTACATATAAATATATATACATAAATATATAAATATATAAATATATAAAT ATATAAATACATAATATATATAAATATAAAATATATATAATATATAAAAT ATATTAAAAATATAAAAATATATATAAAAAATATATAAATATATAAAAAT ATATAAAAAATATATACACATATAAATATATATAAAAATATATAAATATA TATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	344	0.0029	523	c.617 others(540): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATA TTTATATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTT TTATATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTT TATATATTATATATATTTTATATTTATATATATTATGTATTTATATATTT ATATATTTATATATTTATATATTTATGTATATATATTTATATGTACTTAT ATATATTTATATATTTATATATTTATATATTTATATATTTATGTATTTAT ATATTTTTATATATTTATATATTTATATATTTATATATATTTATATATTT ATATATTTTTATATATTTATATATATTTATATATTTATATATTTTTATAT ATTTATATATTTTTATATATTTATATTTATATATTTATATATTTATATAT TTATATATTATATATTTATATTTATATATGTATATATTTTTATATATTTT TATTTATATATTTATATATTTATATATATTTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(516): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAA ATACATAAATATATAAATATATAAATATATAAATATATAAATATATATAA GTACATATAAATATATATACATAAATATATAAATATATAAATATATAAAT ATATAAATACATAATATATATAAATATAAAATATATATAATATATAAAAT ATATTAAAAATATAAAAATATATATAAAAAATATATAAATATATAAAAAT ATATAAAAAATATATACACATATAAATATATATAAAAATATATAAATATA TATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01071.hp1 HG01258.hp1 others(17): Show HG00438.hp1 HG01071.hp1 HG01258.hp1 HG01981.hp1 HG02004.hp2 HG02735.hp1 HG03688.hp1 HG03834.hp1 NA18939.hp2 NA18944.hp1 NA18952.hp2 NA18962.hp2 NA18964.hp2 NA18984.hp1 NA19005.hp1 NA19007.hp2 NA19063.hp2 NA19066.hp1 NA19070.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0089 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0089 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0324	20	344	0.0581	523	c.617 others(540): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATA TTTATATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTT TTATATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTT TATATATTATATATATTTTATATTTATATATATTATGTATTTATATATTT ATATATTTATATATTTATATATTTATGTATATATATTTATATGTACTTAT ATATATTTATATATTTATATATTTATATATTTATATATTTATGTATTTAT ATATTTTTATATATTTATATATTTATATATTTATATATATTTATATATTT ATATATTTATATATATTTATATATATTTATATATTTATATATTTTTATAT ATTTATATATTTTTATATATTTATATTTATATATTTATATATTTATATAT TTATATATTATATATTTATATTTATATATGTATATATTTTTATATATTTT TATTTATATATTTATATATTTATATATATTTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
GPRIN1_chr5_176590802_176615156	176592096	A A	ATGGTGGT others(516): Show ATGGTGGTGGTGATGGTGATGGTAGTGATGGTGATGGTGGTGATGATGGT GATGATGACAATGATGATGGTGGTGGTGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGATGATGACGATGGTGG TGTTGGTGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGG TGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGATGA CGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGA TGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTG TGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGATGATGACG ATGGTGGTGGTGGTGGTGGTGTTGGTGTTGAGGTGATGGTGGTGATGGTA GTGGTGGTGGGTGATGGTGGTGGCAATGGTGATGGTGGTGGTCATGGTGG TCATGGTAGTGGTGGCAGTTATTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01074.hp1 others(5): Show HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01891.hp2 HG02451.hp2 HG02647.hp2 HG02818.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0040 a0001c0001t0003g0087 a0001c0001t0003g0018 a0001c0001t0003g0040 a0001c0001t0003g0087	8	397	0.0202	523	c.47 others(534): Show c.4711_*4712insCAATAACTGCCACCACTACCATGACCACCATGAC CACCACCATCACCATTGCCACCACCATCACCCACCACCACTACCATCACC ACCATCACCTCAACACCAACACCACCACCACCACCACCATCGTCATCATC ACCATCATCACCACCATCACCATCACAACCATCACCATCACAACCATCAC CATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCAT CACCATCACCTCAACACCAACACCATCATCACCACCATCGTCATCATCAC CACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCAT CACAACCATCACCATCACCTCAACACCAACACCACCAACACCACCATCGT CATCATCACCATCATCACCACCATCACCATCACAACCATCACCATCACCT CAACACCAACACCACCACCACCATCATCATTGTCATCATCACCATCATCA CCACCATCACCATCACTACCATCACCATCACCACCACCA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		3705		chr5	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(516): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0116 a0001c0002t0009g0116	1	408	0.0025	523	c.633 others(540): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(516): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTTCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	408	0.0025	523	c.633 others(540): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(516): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACC TCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCC TCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCCT CCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCTCCCCCTC CTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCC TCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCC TCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	252	0.0040	523	c.10- others(540): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCT CCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTC CTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCT GCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTC CCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCC CCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAG2_chr12_25047706_25113335	25077273	A A	ATATGATA others(516): Show ATATGATATATATATGAAATATATATGATATATATGAAATATATATATGA TATATATGATATATATATGATATATATGAAATATATATATGATATATATG ATATATATATGATATATATGAAATATATATATGATATATATGTGAAATAT ATATATGATATATATGTGAAATATATATATGATATATATGTGAAATATAT ATATGATATATATGTGAAATATATATATGATATATATGTGAAATATATAT ATGATATATATGTGAAATATATATATGATATATATGTGAAATATATATAT GATATATATGTGAAATATATATATGATATATATGTGAAATATATATATGA TATATATGTGAAATATATATATGATATATATGTGAAATATATATATGATA TATATGTGAAATATATATATGATATATATGTGAAATATATATATGATATA TATGTGAAATATATATATGATATATATGTGAAATATATATATGATATATA TGTGAAATATATATGATATATATG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01928.hp1 HG01975.hp2 others(1): Show HG00733.hp2 HG01928.hp1 HG01975.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0322 a0001c0001t0001g0323 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324	4	344	0.0116	523	c.25- others(538): Show c.25-1970_25-1969insATGATATATATATGAAATATATATGATATA TATGAAATATATATATGATATATATGATATATATATGATATATATGAAAT ATATATATGATATATATGATATATATATGATATATATGAAATATATATAT GATATATATGTGAAATATATATATGATATATATGTGAAATATATATATGA TATATATGTGAAATATATATATGATATATATGTGAAATATATATATGATA TATATGTGAAATATATATATGATATATATGTGAAATATATATATGATATA TATGTGAAATATATATATGATATATATGTGAAATATATATATGATATATA TGTGAAATATATATATGATATATATGTGAAATATATATATGATATATATG TGAAATATATATATGATATATATGTGAAATATATATATGATATATATGTG AAATATATATATGATATATATGTGAAATATATATATGATATATATGTGAA ATATATATATGATATATATGTGAAATATATATGATATATATGT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(516): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACAG CCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACA GCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCA CAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCC CCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGC CCCCCACAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	312	0.0032	523	c.-41 others(538): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCC ACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCC CCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTG CCCCCCACAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KHSRP_chr19_6408102_6429811	6429348	A A	AGAAGAGG others(516): Show AGAAGAGGAGGAGGGAGAGGAGGAGGAGGAGGAGAGGAGAAGAGGAGGAG GAGGGAGAAGGGAGAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGG AGGAGGGAGAGGAGGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGG AGGAGGAGGAAGTGAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAA AGGAGGAGGGAAGGAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAA AGGAGGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAG GAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGG AGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGG GGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGA GGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGA GGAGGAGAGGAAAGAGTCCGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	386	0.0026	523	c.-46 others(534): Show c.-4648_-4647insCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCT TCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCT CTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCT CTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCT CCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTT CTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCC TCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTT TTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTC CCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACC TTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTTCTCCCTCCTCCTCCTCT TCTCCTCTCCTCCTCCTCCTCCTCTCCCTCCTCCTCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4538		chr19	TogoVar
LGR6_chr1_202188799_202324761	202204690	C C	CACCTAAC others(516): Show CACCTAACACACACCTCCTTCAAACACACACACACCTCCAAACACACACA CACACCCCTCCTTCAAACACACACACACCTCCAAACACACACACACCCCT AACACACACCTCCTCCAAACACAAACCTCCAAACACACACACACCTCCAA ACACACACACACCTAACACACACCTCCTCCAAACACACACACACTTCCAA ACACACACACACCTCCAAACACACATACATCTCCAAACACACACACACCT AACACACGCACCTAACACACACTTCCTTCAAACACACACACCTCCAAAGA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTAACACAC ACCTCCTTCAAACACACACACACACCTCCAAACACACACACACCTAACAC ACACCTCCTTCAAACACACACACACCTCCAAACACACACACCTAACACAC ACCTCCTTCAAACACACACACACCTCTCCAAACACACACACACCTAACAC ACCCCCCTTCAAACACACACACCT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0084 a0002c0002t0003g0084	1	262	0.0038	523	c.212 others(542): Show c.212+10489_212+10490insACCTAACACACACCTCCTTCAAACAC ACACACACCTCCAAACACACACACACACCCCTCCTTCAAACACACACACA CCTCCAAACACACACACACCCCTAACACACACCTCCTCCAAACACAAACC TCCAAACACACACACACCTCCAAACACACACACACCTAACACACACCTCC TCCAAACACACACACACTTCCAAACACACACACACCTCCAAACACACATA CATCTCCAAACACACACACACCTAACACACGCACCTAACACACACTTCCT TCAAACACACACACCTCCAAAGACACACACACACCTAACACACACCTCCT TCAAACACACACACCTAACACACACCTCCTTCAAACACACACACACACCT CCAAACACACACACACCTAACACACACCTCCTTCAAACACACACACACCT CCAAACACACACACCTAACACACACCTCCTTCAAACACACACACACCTCT CCAAACACACACACACCTAACACACCCCCCTTCAAACACACACACCT	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17			chr1	TogoVar
LGR6_chr1_202188799_202324761	202205137	C C	CACACACT others(516): Show CACACACTCCTCCAAACACACACACACCTAACACACACCTCCTCCAAACA CACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACA CACACACCTAACACACCCGTCCTTCAAACACACACACACCACACACACAC ATCTAACACACACCTCCTTCAGACACACACCTCCAAACACACACACACCT TACACACACCTTCAAACACACACACACACCTAACACACACCTCCTTCAAA CACACACACCTCCAAACACACACATCTAACACACACCTCCTTCAAACACA CACACACCTCCACACACACACACACACACACCTAACACACACCTCCTTCA AACACACACACCTCCAAACACACACACACCTAACACACAGCTTCTTCAAA CACACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAA CACACACCTCCACACACACACACACCTAACACACACCTCCTTCAAACACA CACACCTCCAAACACACACACCTA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	262	0.0038	523	c.212 others(542): Show c.212+10942_212+10943insTCCTCCAAACACACACACACCTAACA CACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTAACA CACACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACACAC ACACACCACACACACACATCTAACACACACCTCCTTCAGACACACACCTC CAAACACACACACACCTTACACACACCTTCAAACACACACACACACCTAA CACACACCTCCTTCAAACACACACACCTCCAAACACACACATCTAACACA CACCTCCTTCAAACACACACACACCTCCACACACACACACACACACACCT AACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAA CACACAGCTTCTTCAAACACACACACACCTCCAAACACACACACACCTAA CACACACCTCCTTCAAACACACACCTCCACACACACACACACCTAACACA CACCTCCTTCAAACACACACACCTCCAAACACACACACCTAACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCCCCCC others(516): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGC GGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTG GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGG CTGGCCTGGCGGGGGGCTGACCCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0001 a0014c0021t0001	a0014c0021t0001g0226 a0014c0021t0001g0227 a0014c0021t0001g0226 a0014c0021t0001g0227	2	246	0.0081	523	c.171 others(540): Show c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC CGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACC CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGA GGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG GCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(516): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGC GGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTG GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGG CTGGCCTGGCGGGGGGCTGACCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00544.hp2 others(42): Show HG00280.hp2 HG00438.hp1 HG00544.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01346.hp1 HG01361.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02257.hp2 HG02273.hp1 HG02615.hp2 HG02683.hp2 HG02886.hp1 HG03195.hp1 HG03486.hp1 HG03491.hp1 HG03704.hp2 NA18942.hp2 NA18943.hp1 NA18953.hp1 NA18962.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18995.hp1 NA18999.hp1 NA19002.hp1 NA19010.hp2 NA19083.hp1 NA19086.hp2 NA19091.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0011 a0032 a0039 a0043 a0044 a0052	a0001c0001 a0001c0017 a0001c0018 others(15): Show a0001c0001 a0001c0017 a0001c0018 a0001c0031 a0001c0034 a0001c0036 a0001c0037 a0001c0041 a0002c0039 a0004c0006 a0004c0019 a0004c0035 a0011c0013 a0032c0043 a0039c0042 a0043c0057 a0044c0032 a0052c0046	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0017t0001 a0001c0018t0002 a0001c0031t0001 a0001c0034t0001 a0001c0036t0002 a0001c0037t0001 a0001c0041t0001 a0002c0039t0001 a0004c0006t0001 a0004c0019t0001 a0004c0035t0001 a0011c0013t0001 a0032c0043t0001 a0039c0042t0001 a0043c0057t0001 a0044c0032t0001 a0052c0046t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 others(42): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0016 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0006g0066 a0001c0017t0001g0028 a0001c0018t0002g0036 a0001c0031t0001g0106 a0001c0034t0001g0090 a0001c0036t0002g0035 a0001c0037t0001g0095 a0001c0041t0001g0072 a0002c0039t0001g0073 a0004c0006t0001g0062 a0004c0006t0001g0075 a0004c0006t0001g0083 a0004c0019t0001g0050 a0004c0035t0001g0063 a0011c0013t0001g0078 a0011c0013t0001g0079 a0032c0043t0001g0064 a0039c0042t0001g0021 a0043c0057t0001g0168 a0044c0032t0001g0102 a0052c0046t0001g0068	45	246	0.1829	523	c.171 others(540): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC CTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(516): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCTGGCGGGGGGCTGACCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02602.hp2 HG02647.hp2 others(3): Show HG01106.hp1 HG02602.hp2 HG02647.hp2 HG04204.hp1 NA18942.hp1 NA18971.hp2	a0003 a0006 a0047 a0003 a0006 a0047	a0003c0002 a0006c0005 a0047c0068 a0003c0002 a0006c0005 a0047c0068	a0003c0002t0001 a0006c0005t0001 a0047c0068t0001 a0003c0002t0001 a0006c0005t0001 a0047c0068t0001	a0003c0002t0001g0128 a0006c0005t0001g0234 a0006c0005t0001g0236 others(3): Show a0003c0002t0001g0128 a0006c0005t0001g0234 a0006c0005t0001g0236 a0006c0005t0001g0237 a0006c0005t0001g0243 a0047c0068t0001g0129	6	246	0.0244	523	c.171 others(540): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(516): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATTATATATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATTATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATAATATATAATTTATATATAATATAATTATATA ATATATAATTTATATATAATATAATTATATAATATATAATTTATATATAA TATAATTATATAATATATAATTTATATATAATATAATTATATAATATATA ATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	523	c.-31 others(534): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATTATA TATAAATTATATATTATATAATTATATTATATATAAATTATATATTATAT AATTATATTATATATAAATTATATATTATATAATTATATTATATATAAAT TATATATTATATAATTATATAATATATAAATTATATATTATATAATTATA TTATATATAAATTATATATTATATAATTATATTATATATAAATTATATAT TATATAATTATATTATATATAAATTATATATATATAATTATATATAAATT ATATATTATATAATTATATTATATTATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MCF2L2_chr3_183173041_183433619	183314943	T T	TTTTTGAG others(516): Show TTTTTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTA CGATCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCG GGTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGC TGGTCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAA GTGCTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTT TTCTAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAG GAAATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTA CAAGATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAA TCACAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTG TTTGTTTGTTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp1 HG01123.hp2 others(5): Show HG00738.hp2 HG01123.hp1 HG01123.hp2 HG01433.hp2 HG02683.hp2 HG04115.hp2 NA18950.hp2 NA19010.hp2	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0015	a0001c0001 a0005c0007 a0008c0008 others(1): Show a0001c0001 a0005c0007 a0008c0008 a0015c0018	a0001c0001t0001 a0001c0001t0002 a0005c0007t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0005c0007t0001 a0008c0008t0001 a0015c0018t0003	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0047 others(5): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0086 a0001c0001t0002g0003 a0005c0007t0001g0044 a0008c0008t0001g0042 a0015c0018t0003g0045	8	176	0.0455	523	c.753 others(540): Show c.753+3124_753+3125insCAAACAAACAAACAAACAAACAAACAAA AAACAAACCAAAAAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTAC TGATTATTGTCCTAATTCAAATCTGATTTCTTTGTTCGTTATCTTGTAGC TTAGAAGCAAGAATACCAAAATCATTAAACTAGAGTTATATATTTCCTCT TTCTCATCCAAAAATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAA AGAGATACTGGCCAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTG GGAGGCCAAGGCGGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCT GACCAACACGGAGAAACCCCATCTCTACTAAAAATACAAAATTACCCGGA CATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATCTCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACC ATTGTACTCCAGCCTGGGCAACAAGAGTGAAATTCTGTCTCAAAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(516): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCA CTAGGATGGAGTGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGA AGGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCAC TAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGA AGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGC TAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	249	0.0040	523	c.148 others(542): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCAC TCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCACTCCATCCTAGTG CTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCC CAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCAC TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(516): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0014	1	350	0.0029	523	c.-28 others(534): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(516): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	350	0.0029	523	c.-28 others(534): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATATATCATATATAAAAATTTA TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYO1C_chr17_1459186_1497686	1482669	C C	CCCCTCCC others(516): Show CCCCTCCCCTCCCCTCCTGCACTGGGCTTCTCTCCCTGCCCTCCCCTCCC CTCCCGCACTGGGCTTCTCTCCCTGCCCCTCCCCTCCCCTCCCGCACTGG GCTTCTCTCCCTGCCCTCCCCTCCCCTCCTGCACTGGGCTTCTCTCCCTG CCCTCCCCTCCCCTCCCGCACTGGGCTTCTCTCCCTGCCCCTCCCCTCCC CTCCCGCACTGGGCTTCTCTCCCTGCCCTCCCCTCCCCTCCTGCACTGGG CTTCTCTCCCTGCCCTCCCCTCCCCTCCCGCACTGGGCTTCTCTCCCTGC CCTCCCCTCCCCTCCTGCACTGGGCTTCTCTCCCTGCCCCTCCCCTCCCC TCCTGCACTGGGCTTCTCTCCCTGCCCCTCCCCTCCCCTCCTGCACTGGG CTTCTCTCCCTGCCCCTCCCCTCCCCTCCCGCACTGGGCTTCTCTCCCTG CCCTCCCCTCCCCTCCTGCACTGGGCTTCTCTCCCTGCCCTCCCCTCCCC TCCCGCACTGGGCTTCTCTCCCTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0123 a0001c0006t0011g0123	1	430	0.0023	523	c.547 others(538): Show c.547-112_547-111insCAGGGAGAGAAGCCCAGTGCGGGAGGGGAG GGGAGGGCAGGGAGAGAAGCCCAGTGCAGGAGGGGAGGGGAGGGCAGGGA GAGAAGCCCAGTGCGGGAGGGGAGGGGAGGGGCAGGGAGAGAAGCCCAGT GCAGGAGGGGAGGGGAGGGGCAGGGAGAGAAGCCCAGTGCAGGAGGGGAG GGGAGGGGCAGGGAGAGAAGCCCAGTGCAGGAGGGGAGGGGAGGGCAGGG AGAGAAGCCCAGTGCGGGAGGGGAGGGGAGGGCAGGGAGAGAAGCCCAGT GCAGGAGGGGAGGGGAGGGCAGGGAGAGAAGCCCAGTGCGGGAGGGGAGG GGAGGGGCAGGGAGAGAAGCCCAGTGCGGGAGGGGAGGGGAGGGCAGGGA GAGAAGCCCAGTGCAGGAGGGGAGGGGAGGGCAGGGAGAGAAGCCCAGTG CGGGAGGGGAGGGGAGGGGCAGGGAGAGAAGCCCAGTGCGGGAGGGGAGG GGAGGGCAGGGAGAGAAGCCCAGTGCAGGAGGGGAGGGGAGGG	MYO1C	ENSG00000197879.17	transcript	ENST00000648651.1	protein_coding	4/31			chr17	TogoVar
NHSL2_chrX_71905845_72158286	72092752	T T	TAACTGCA others(516): Show TAACTGCATTAATACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTA TTTATTTTTTTATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATTATA CTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGT ATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCAT TAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACA GTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTT CAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTACAATAGC AAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAGGA AAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGAT GAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCT CAGTAAACTATCGCAAGAACAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0152 a0001c0003t0030g0152	1	187	0.0054	523	c.281 others(542): Show c.281-39309_281-39308insTTTTTTTTTTTTTTTTTTTTTTTTTT ATTTATTTATTTTTTTATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTA TTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACA TATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCT AGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCA CCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCA TTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTACA ATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGAT TAGGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAA ATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACTGCATTAATACTTCT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHSL2_chrX_71905845_72158286	72092752	T T	TAACTGCA others(516): Show TAACTGCATTAATACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTT ATTTATTTTTTTATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTATTATA CTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGT ATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCAT TAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACA GTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTT CAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTACAATAGC AAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAGGA AAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGAT GAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCT CAGTAAACTATCGCAAGAACAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0153 a0001c0003t0034g0153	1	187	0.0054	523	c.281 others(542): Show c.281-39309_281-39308insTTTTTTTTTTTTTTTTTTTTTTTTTT TATTTATTTATTTTTTTATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTA TTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACA TATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCT AGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCA CCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCA TTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTACA ATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGAT TAGGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAA ATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACTGCATTAATACTTCT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NOTCH1_chr9_136489433_136551048	136535835	G G	GGGGGAGC others(516): Show GGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGA GGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGT GGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGAGAGGGGAGCACTCAGGATCCCTCCCAAGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGG TGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCTGGGG CAATGGGTGCAGGGTGGGTGGAGA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0011 a0011	a0011c0051 a0011c0051	a0011c0051t0001 a0011c0051t0001	a0011c0051t0001g0269 a0011c0051t0001g0269	1	324	0.0031	523	c.140 others(540): Show c.140+8188_140+8189insTCTCCACCCACCCTGCACCCATTGCCCC AGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCA TTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCT GCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCT GCACCCATTGCCCTTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACC CTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACC CTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCAC CCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCC ACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACC CACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCA CCCACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535835	G G	GGGGGAGC others(516): Show GGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGA GGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGT GGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGG TGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCTGGGG CAATGGGTGCAGGGTGGGTGGAGA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01952.hp2 HG02004.hp1 others(4): Show HG01928.hp2 HG01952.hp2 HG02004.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG03831.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0011 a0001c0012 others(2): Show a0001c0001 a0001c0011 a0001c0012 a0001c0063 a0003c0015	a0001c0001t0001 a0001c0011t0001 a0001c0012t0001 others(2): Show a0001c0001t0001 a0001c0011t0001 a0001c0012t0001 a0001c0063t0010 a0003c0015t0001	a0001c0001t0001g0267 a0001c0001t0001g0303 a0001c0011t0001g0264 others(4): Show a0001c0001t0001g0267 a0001c0001t0001g0303 a0001c0011t0001g0264 a0001c0011t0001g0266 a0001c0012t0001g0263 a0001c0063t0010g0268 a0003c0015t0001g0265	7	324	0.0216	523	c.140 others(540): Show c.140+8188_140+8189insTCTCCACCCACCCTGCACCCATTGCCCC AGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCA TTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCT GCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCT GCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACC CTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACC CTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCAC CCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCC ACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACC CACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCA CCCACCCTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535991	G G	GGAGGGGG others(516): Show GGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTG GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGAGTGGGTGGA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19070.hp2 NA19005.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0296 a0001c0001t0003g0189 a0001c0001t0003g0296	2	324	0.0062	523	c.140 others(540): Show c.140+8032_140+8033insTCCACCCACTCCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTG CACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTG CACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTG CACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCT GCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACC CTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCAC CCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(516): Show GGAGGGAGGGGGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGGGG GAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGAGAGGGACAGGGAC AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACAGGGAG AGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGG AGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGA GGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGGGA GAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGG GAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAG GGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGA GAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGA GTGAGAGAGAGAGGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG01106.hp2 others(2): Show HG00733.hp2 HG01070.hp2 HG01106.hp2 HG01975.hp1 HG02155.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0008 a0001c0003t0071 a0001c0003t0004 a0001c0003t0008 a0001c0003t0071	a0001c0003t0004g0091 a0001c0003t0008g0356 a0001c0003t0008g0368 others(2): Show a0001c0003t0004g0091 a0001c0003t0008g0356 a0001c0003t0008g0368 a0001c0003t0008g0369 a0001c0003t0071g0370	5	386	0.0130	523	c.92 others(534): Show c.9222_*9223insTCCCTCTCTCCCTCTCTCTCTCACTCCCTTTCCC TCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTCCCTCTCCT TCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATC CCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTC CCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTC TCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCCCTCCCTCCCCT CCCGCCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCC CCTCCCCTCCCTCTCCCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCC CTCTCCCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCC CTCTCCTCCCCCCTCCCCCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCC TCCCTCTCCCTCCCTCCCTGTCCCCCCTCCCCCTCCCTC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3703		chr12	TogoVar
NTM_chr11_131365615_132341822	132070246	A A	AGTTAACA others(516): Show AGTTAACACGTCAAACTGACCATCACAGGTTAGTTAACACGTCACTCAGC CAAGTTAACACGTCACACTGACCATCACAGATTAGTTAACACGTCACTCA GCCAAGTTAACACGTCACACTGACCATCACAGGTTAGTTAACACGTCACA CAGCCAAGTTAACACGTCACACTGACCATCACAGGTTAGTTAACACGTCA CTCAGCCAAGTTAACACGTCAAACTGACCGTCACCGGTTAGTTAACACGT CACCCAGCCAAGTTAACACGTCAAACTGACCGTCACAGGTTAGTTAACAT GTCACACAGCCAAGTTAACACGTCACACTGACCGTCACAGGTTAGTTAAC ACGTCACCCAGCCAAGTTAACACGTCAAACTGACCGTCACAGGTTAGTTA ACACGTCACACAGACAAGTTAACACATCACACTGACCGTCACAGGTTAGT TAACACGTCACCCAGCCAAGTTAACACGTCACACTGACCATCACAGGTTA GTTAACACGTCACACAGCCAGGTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	86	0.0116	523	c.168 others(542): Show c.168-76036_168-76035insGTTAACACGTCAAACTGACCATCACA GGTTAGTTAACACGTCACTCAGCCAAGTTAACACGTCACACTGACCATCA CAGATTAGTTAACACGTCACTCAGCCAAGTTAACACGTCACACTGACCAT CACAGGTTAGTTAACACGTCACACAGCCAAGTTAACACGTCACACTGACC ATCACAGGTTAGTTAACACGTCACTCAGCCAAGTTAACACGTCAAACTGA CCGTCACCGGTTAGTTAACACGTCACCCAGCCAAGTTAACACGTCAAACT GACCGTCACAGGTTAGTTAACATGTCACACAGCCAAGTTAACACGTCACA CTGACCGTCACAGGTTAGTTAACACGTCACCCAGCCAAGTTAACACGTCA AACTGACCGTCACAGGTTAGTTAACACGTCACACAGACAAGTTAACACAT CACACTGACCGTCACAGGTTAGTTAACACGTCACCCAGCCAAGTTAACAC GTCACACTGACCATCACAGGTTAGTTAACACGTCACACAGCCAGGTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8			chr11	TogoVar
NXN_chr17_794310_984776	949122	C C	CCCCCCTG others(516): Show CCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCG GCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCT CCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCTCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCT CCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTG CCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTC CCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCT CCTCTCCCCCCTGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0240 a0001c0001t0015g0240	1	242	0.0041	523	c.360 others(542): Show c.360+30196_360+30197insAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAG GAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCAGGGAGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAG AGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCG GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGG AGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPHN1_chrX_68037344_68438495	68326741	G G	GCCCCCCG others(516): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGCGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCC GGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAA CCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG CCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTC CGGGAGGGGGGAGGGGGGGTCAGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0099 a0001c0001t0020g0099	1	155	0.0065	523	c.155 others(542): Show c.155-27646_155-27645insGCTGACCCCCCCTCCCCCCTCCCGGA CGAGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTT GACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGG CCGGGGCGGCTGGCCGACCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTTCCT others(516): Show CCCTTCCTCCCTCTTTCCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCC TCCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCC TTCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCC TTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCC CTCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTC CCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCT CCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCC TCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTC CCTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCC TGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG CCTCCCTCCTTCCCTCCCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02451.hp1 others(4): Show HG01884.hp2 HG02280.hp2 HG02451.hp1 HG02922.hp1 HG03098.hp1 HG03195.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0001 a0001c0002t0004 a0001c0003t0001	a0001c0002t0004g0029 a0001c0002t0004g0147 a0001c0002t0004g0148 others(3): Show a0001c0002t0004g0029 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0150 a0001c0003t0001g0146	7	350	0.0200	523	c.-14 others(534): Show c.-1441_-1440insCCTTCCTCCCTCTTTCCCTCCCTCTTCCCTTCCT CCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCT CCTTCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCC TTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCC TCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTC CTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCT CCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCT CCCTACTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCC CTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTT CCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCC TTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1277		chr16	TogoVar
PNPLA7_chr9_137454952_137555402	137503801	G G	GGAAGAAG others(516): Show GGAAGAAGGAAGAAGAAAGAAGAAGAAGGAAAAAGAAGGAAGAAGAAGCA GAAAGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAA GGAAGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAA AGAAGAAGAAGGAAGAAGAAGAAAGAAGAGGAAGAAGGAAGAAGAAAGAA GAAGGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGA AGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGA AGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAG AAGAAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGG AAGAGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAA GAAGGAAGAAGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAA GAAGGAAGAAGAAGGAAGAATGAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0054 a0011c0011t0001g0054	1	188	0.0053	523	c.147 others(542): Show c.1473+1812_1473+1813insTTCATTCTTCCTTCTTCTTCCTTCTT CCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCCTTCTT CCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCC TTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCT TCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTC TTTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTTCTTCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCTTCCTTCTT CTTTCTTCTTCCTTCTTCCTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTT CTTCCTTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTT CTTCCTTCTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTG CTTCTTCTTCCTTCTTTTTCCTTCTTCTTCTTTCTTCTTCCTTCTTC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503801	G G	GGAAGAAG others(516): Show GGAAGAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCA GAAAGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAA GGAAGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAA AGAAGAAGAAGGAAGAAGAAGAAAGAAGAGGAAGAAGGAAGAAGAAAGAA GAAGGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGA AGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGA AGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAG AAGAAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGG AAGAGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAA GAAGGAAGAAGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAA GAAGGAAGAAGAAGGAAGAATGAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp2 HG01496.hp1 others(4): Show HG00642.hp2 HG01243.hp2 HG01496.hp1 HG03579.hp1 NA18943.hp2 NA18952.hp2 NA18995.hp2	a0001 a0031 a0036 a0001 a0031 a0036	a0001c0001 a0001c0002 a0031c0044 others(1): Show a0001c0001 a0001c0002 a0031c0044 a0036c0060	a0001c0001t0001 a0001c0002t0001 a0031c0044t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0031c0044t0001 a0036c0060t0001	a0001c0001t0001g0057 a0001c0001t0001g0118 a0001c0002t0001g0029 others(4): Show a0001c0001t0001g0057 a0001c0001t0001g0118 a0001c0002t0001g0029 a0001c0002t0001g0090 a0001c0002t0001g0111 a0031c0044t0001g0034 a0036c0060t0001g0092	7	188	0.0372	523	c.147 others(542): Show c.1473+1812_1473+1813insTTCATTCTTCCTTCTTCTTCCTTCTT CCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCCTTCTT CCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCC TTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCT TCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTC TTTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTTCTTCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCTTCCTTCTT CTTTCTTCTTCCTTCTTCCTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTT CTTCCTTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTT CTTCCTTCTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTG CTTCTTCTTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
RAB11FIP3_chr16_420649_528011	492357	G G	GGCCCCTC others(516): Show GGCCCCTCCCGGGGGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCC GAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCCTC CCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGGGACCCGAGGCCGT CCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCC GAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCC CCGGGAGACCCGAGGCCGCCCAGA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	295	0.0034	523	c.126 others(542): Show c.1265+3358_1265+3359insCCCCTCCCGGGGGACCCGAGGCCGTC CAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGA CCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGAGCC CTCCCGGGGGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGC CCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGAC CCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
SART1_chr11_65956734_65985137	65971576	T T	TGCTGAGG others(516): Show TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATG AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGA GGAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00621.hp1 others(13): Show HG00140.hp1 HG00544.hp1 HG00621.hp1 HG00735.hp1 HG01074.hp1 HG01081.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02293.hp2 HG03098.hp2 NA18955.hp1 NA18967.hp2 NA19011.hp1 NA19057.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0001 a0001c0006 a0002c0001	a0001c0006t0001 a0002c0001t0001 a0001c0006t0001 a0002c0001t0001	a0001c0006t0001g0142 a0002c0001t0001g0003 a0002c0001t0001g0074 others(9): Show a0001c0006t0001g0142 a0002c0001t0001g0003 a0002c0001t0001g0074 a0002c0001t0001g0078 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0137 a0002c0001t0001g0138 a0002c0001t0001g0139 a0002c0001t0001g0140 a0002c0001t0001g0149 a0002c0001t0001g0150	16	384	0.0417	523	c.157 others(542): Show c.1572+3760_1572+3761insGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGA	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SHANK1_chr19_50654255_50724802	50678865	G G	GATGGGGA others(516): Show GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGT CAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCA GTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGA GGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATG ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT CAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG GAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGG TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG GTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG GGTGATGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0006 a0001c0039t0006	a0001c0039t0006g0107 a0001c0039t0006g0107	1	316	0.0032	523	c.257 others(542): Show c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA TCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACC CTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCC CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGAC CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA TCTTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTC TCCATCACACTGACCCCTCTCCATCACACTGACCCCTCTCCATCACACTG ACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGAC CCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(516): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0115 a0002c0002t0002g0115	1	256	0.0039	523	c.165 others(540): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar

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Search Results (Total: 10000 hits)