Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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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
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(861): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATATAGTTA GTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATA TATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAG TAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTA ATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTT AGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0076 a0002c0002t0011g0076	1	422	0.0024	868	c.195 others(885): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTA TATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATAT ACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATAT TAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTA CTATATATTAATATATACTAACTATATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
OGDHL_chr10_49729641_49767323	49742423	C C	CACACCAC others(861): Show CACACCACACACATACACACTCCACACACACCACACATATATCACACACA CCACATACACACTCCACACACACCACACATACATCACACACACCATACAC CACACACACACCACACACTACACACCACACCCACCCACGCATACCACACA TATCCCCTTACATACCACACACATCCCCTACACACACGCCACATACACAC ACCATACACATCCCCCACAGACACACATACCCCTACATACCACACACATC CCCTACACACATGCCATACACACACCATACACATCCCCCACAGACACACA TACACACCACACACATACACAAACACTGCACACATACACACCCCACACAT ACAACACACACGACACACCACACACATACACAAACACTGCACACATACAC ACCCCACACATACAACACACACGACACACCACACACATACACAAACACTG CACACATACACACCCCACACATACAACACACACGACACACCACACAACCA TACAGACACAAACACATACACCACACACACCACATACACAACAAACATGC CACACACAAATACCACACACACCACATACACACACCCATTCACCACACAC CACATACACACCATTCACACTACACATACACTCCACACACACACCACATA CACACCATACACACCACACATATCTCCACACACACACCACATACATACAC ATCCCATCCACACACACCACACACCCACACACACACACTCCAAACTCCAC ACACATACTCCAAACACCACACAAATACACCTACACACACATCACACACC CACACCACACCCACACCACACAAACATGCCACACACATACCCCACACCAT ACACACACACACACCAAAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18956.hp1 NA19009.hp2 NA18946.hp2 NA18956.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0084 a0001c0001t0002g0090 a0001c0001t0002g0095	3	316	0.0095	868	c.201 others(885): Show c.2012+404_2012+405insATTTGGTGTGTGTGTGTGTATGGTGTGG GGTATGTGTGTGGCATGTTTGTGTGGTGTGGGTGTGGTGTGGGTGTGTGA TGTGTGTGTAGGTGTATTTGTGTGGTGTTTGGAGTATGTGTGTGGAGTTT GGAGTGTGTGTGTGTGGGTGTGTGGTGTGTGTGGATGGGATGTGTATGTA TGTGGTGTGTGTGTGGAGATATGTGTGGTGTGTATGGTGTGTATGTGGTG TGTGTGTGGAGTGTATGTGTAGTGTGAATGGTGTGTATGTGGTGTGTGGT GAATGGGTGTGTGTATGTGGTGTGTGTGGTATTTGTGTGTGGCATGTTTG TTGTGTATGTGGTGTGTGTGGTGTATGTGTTTGTGTCTGTATGGTTGTGT GGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGTGCAGTGTTTG TGTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTG TGCAGTGTTTGTGTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGG GTGTGTATGTGTGCAGTGTTTGTGTATGTGTGTGGTGTGTATGTGTGTCT GTGGGGGATGTGTATGGTGTGTGTATGGCATGTGTGTAGGGGATGTGTGT GGTATGTAGGGGTATGTGTGTCTGTGGGGGATGTGTATGGTGTGTGTATG TGGCGTGTGTGTAGGGGATGTGTGTGGTATGTAAGGGGATATGTGTGGTA TGCGTGGGTGGGTGTGGTGTGTAGTGTGTGGTGTGTGTGTGGTGTATGGT GTGTGTGATGTATGTGTGGTGTGTGTGGAGTGTGTATGTGGTGTGTGTGA TATATGTGTGGTGTGTGTGGAGTGTGTATGTGTGTGGTGT	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	15/22			chr10	TogoVar
RAB11FIP3_chr16_420649_528011	492487	T T	TCCCGGGA others(861): Show TCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGG AGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGG GCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCG AGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGGAGAC CCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGGAGACCCGAG GCCGTCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCC CAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGC CCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAG GCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGGAGACCC GAGGCCGCCCAGAGCCCTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	295	0.0034	868	c.126 others(887): Show c.1265+3511_1265+3512insAGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGA GACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGG CCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGA GGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGGAGACC CGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT TCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGGAGACCCGAGG CCGTCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCC AGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCC CTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGG CCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGGAGACCCG AGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(861): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACATTATACATTATTATATAAGCATA TGTAATACATTATACATTATTATATAAGCATATGTAATATATATTATACA TTATTATATAAGCATATGTAATATATATTATACATTATTATATAAGCATA TAATATATAATACATAATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0050 a0001c0001t0020 a0001c0001t0050	a0001c0001t0020g0021 a0001c0001t0050g0062 a0001c0001t0020g0021 a0001c0001t0050g0062	2	220	0.0091	868	c.24+ others(885): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACATT ATACATTATTATATAAGCATATGTAATACATTATACATTATTATATAAGC ATATGTAATATATATTATACATTATTATATAAGCATATGTAATATATATT ATACATTATTATATAAGCATATAATATATAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(861): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATGTGTAATAC ACAATATATATTATATAATGTGTAATACACAATATATATTATATAATGTG TAATACACAATATATATTATATAATGTGTAATACACAATATATATTATAT AATGTGTAATACACAATATATATTATATAATGTGTAATACACAATATATA TTATATAATGTGTAATACACAATATATATTATATAATGTGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACATTATA CATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATA TGTAATATATATTATACATTATTATATAAGTATATGTAATATATATTATA CATTATTATATAAGCATATAATATATAATACATAATACATTATATATAAG CATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0209 a0001c0001t0049g0209	1	220	0.0046	868	c.24+ others(885): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATGTGTAATACACAATATATATTATATAATGTGTAATACA CAATATATATTATATAATGTGTAATACACAATATATATTATATAATGTGT AATACACAATATATATTATATAATGTGTAATACACAATATATATTATATA ATGTGTAATACACAATATATATTATATAATGTGTAATACACAATATATAT TATATAATGTGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACATTATACATTATTATATAAGTATATGTAATACATT ATACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAA GTATATGTAATATATATTATACATTATTATATAAGCATATAATATATAAT ACATAATACATTATATATAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(861): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02647.hp1 HG02258.hp1 HG02451.hp1 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0008 a0002c0002t0001g0007 a0002c0002t0001g0009 a0001c0001t0001g0008 a0002c0002t0001g0007 a0002c0002t0001g0009	3	304	0.0099	868	c.66+ others(883): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPH3AL_chr17_207389_357807	272951	A A	AAGGGCTA others(861): Show AAGGGCTACGTCAGGGTGAGACCCCAGCGAGGGTGACATCAGGAAGAGAC CCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGG AGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCGGCGAGGGCGACG TCAGGGAGAGACCCCAGCAAGGGCTACGTCAGGGAGAGACCCCAGCGAGG GTGACGTCAGGGAGAGACCCCAGCGAGGGCGACTTCAGGGAGAGACCCCA GCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGAAGAG ACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCGAGGGCGACATCAG GAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGA CTTCAGGGAGAGACCCCAGCGAGGGCTACGTCAGGGTGAGACCCCAGCGA GGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCC CAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACTTCAGGGAG AGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTC AGGAAGAGACCCCAGCGAGGGCGACGTCAGGGTGAGACCCCAGCGAGGGC GACGTCAGGGAGAGACCCCAGCGAGGGCTACGTCAGGGTGAGACCCCAGC GAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACTTCAGGGAGAGAC CCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGA AGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACG TCAGGAAGAGACCCCAGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	133	0.0075	868	c.438 others(885): Show c.438+8816_438+8817insCGCTGGGGTCTCTTCCTGACGTCGCCCT CGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGACGT CGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCC TGAAGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTC TCACCCTGACGTAGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCT GGGGTCTCACCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGACGTCGCC CTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGAA GTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTC CCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGG TCTCACCCTGACGTAGCCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCG CTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATGTCG CCCTCGCTGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTTCCTG ACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTC TCCCTGAAGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGG GGTCTCTCCCTGACGTAGCCCTTGCTGGGGTCTCTCCCTGACGTCGCCCT CGCCGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGT CACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCC TGATGTCACCCTCGCTGGGGTCTCACCCTGACGTAGCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	272967	T T	TGAGACCC others(861): Show TGAGACCCCAGCGAGGGCGACATCAGGAAGAGACCCCAGCGAGGGCGACG TCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGG GTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCA GCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAG ACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAG GGAGAGACCCCAGCAAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCGA CGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAA GGGTGATGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCC CAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAG AGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCAAGGGTGACTTC AGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGC GACGTCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGC GAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGAC CCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGG AGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCAAGGGTGACT TCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGG GCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCA GCGAGGGCGACGTCAGGGA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	133	0.0075	868	c.438 others(885): Show c.438+8800_438+8801insTCCCTGACGTCGCCCTCGCTGGGGTCTC TCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGG GGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGAAGTCACCCT TGCTGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGT CGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCC TGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTC TCTCCCTGACATCACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCT GGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGAAGTCACC CTTGCTGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGAC GTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTC CCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACATCACCCTTGCTGGGG TCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCG CTGGGGTCTCACCCTGAAGTCACCCTTGCTGGGGTCTCTCCCTGACGTCG CCCTCGCTGGGGTCTCTCCCTGACATCACCCTTGCTGGGGTCTCTCCCTG ACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTC TCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGG GGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	272967	T T	TGAGACCC others(861): Show TGAGACCCCAGCGAGGGCGACATCAGGAAGAGACCCCAGCGAGGGCGACG TCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGG GCTACGTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCA GCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTGACTTCAGGGTGAG ACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAG GGAGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGA CGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGA GGGCGACGTCAGGGAGAGACCCCAGCAAGGGTGACTTCAGGGTGAGACCC CGGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAG AGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTGACTTC AGGGTGAGACCCCGGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGT GACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGC AAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACGTCAGGGAGAGAC CCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGG AGAGACCCCAGCAAGGGTGACTTCAGGGTGAGACCCCGGCGAGGGTGACG TCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCGAGG GCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCA GCGAGGGCGACGTCAGGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0071 a0001c0001t0022g0071	1	133	0.0075	868	c.438 others(885): Show c.438+8800_438+8801insTCCCTGACGTCGCCCTCGCTGGGGTCTC TCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGG GGTCTCTCCCTGACATCACCCTTGCTGGGGTCTCTCCCTGACGTCACCCT CGCCGGGGTCTCACCCTGAAGTCACCCTTGCTGGGGTCTCTCCCTGACGT CGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCC TGACGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCTTGCTGGGGTC TCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCT GGGGTCTCTCCCTGACGTCACCCTCGCCGGGGTCTCACCCTGAAGTCACC CTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGAC GTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCCGGGGTCTCAC CCTGAAGTCACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGG TCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCG CTGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCG CCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCACCCTG AAGTCACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTC TCCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGACGTAGCCCTCGCTGG GGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(861): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAGGGG CAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGACGTCCCAGAT GCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATA GGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACA GGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGG AGGAGGAGGCACAGGAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(39): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01884.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03486.hp1 HG03516.hp1 HG03654.hp1 HG03688.hp2 HG04228.hp1 NA18522.hp1 NA18945.hp2 NA18983.hp2 NA19005.hp2 NA19043.hp2 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0003	a0000c0033 a0001c0001 a0001c0002 others(14): Show a0000c0033 a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0013 a0001c0015 a0001c0026 a0001c0032 a0001c0038 a0001c0043 a0002c0008 a0003c0012	a0000c0033t0002 a0001c0001t0001 a0001c0002t0001 others(14): Show a0000c0033t0002 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 a0001c0011t0001 a0001c0013t0001 a0001c0015t0001 a0001c0026t0001 a0001c0032t0001 a0001c0038t0001 a0001c0043t0001 a0002c0008t0001 a0003c0012t0002	a0000c0033t0002g0106 a0001c0001t0001g0050 a0001c0001t0001g0055 others(39): Show a0000c0033t0002g0106 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0110 a0001c0001t0001g0155 a0001c0002t0001g0008 a0001c0002t0001g0044 a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0109 a0001c0002t0001g0167 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0004t0001g0058 a0001c0004t0001g0061 a0001c0005t0001g0045 a0001c0006t0001g0056 a0001c0006t0001g0157 a0001c0006t0001g0180 a0001c0007t0001g0177 a0001c0010t0001g0003 a0001c0011t0001g0060 a0001c0013t0001g0080 a0001c0013t0001g0108 a0001c0015t0001g0017 a0001c0015t0001g0116 a0001c0026t0001g0200 a0001c0032t0001g0156 a0001c0038t0001g0153 a0001c0043t0001g0184 a0002c0008t0001g0189 a0003c0012t0002g0059 a0003c0012t0002g0062	42	203	0.2069	868	c.-12 others(887): Show c.-127+9348_-127+9349insTCCTCCTGTGCCTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTCCTCCTGTGCCT CCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTC TCCTCCTCTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGGCATCTGGG ACGTCCCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTC CTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGG CATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCTCCTCCTCC TGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCC TGTTCCTCCTCCTCCTCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTC CTGTTCTTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTCTCCACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCC TAGCACCTGTTTCTCCTCCTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(861): Show ATGGATGGATGGATGGGTGGATGGATGGATGGGTGGGTGGGATGGATGGG TGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGGGGATGGAT GGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATG GATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATG GGTGGGATGGATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGT GGGTGGGATGGATGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGT GGGATGGATGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGA TGGATGGATGGGTGGATGGATGGATGGGTGGTATGGATGGATGGGTGTGA TGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGA TGGGTGGGATGGATGGATGGATGGATGGATGGATGGGATGGATGAATGGG GGATGGATGGATGGGGGATGGATGGATGGATGGTTGGGATGGATGGATGG ATGGGTGGGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGTATGG ATGGATGGGTGTGATGGATGGATGGATGGGTGGGATGGATGGATGGATGG GTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGATGGATGGATGG GATGGATGAATGGGGGATGGATGGATGGGGGATGGATGGATGGATGGGTG GGATGGATGGATGGGTGGGATGGATGGATGGATGGATGGATGGGTGGGAT GGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGATGGATGGGTG GGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	189	0.0053	868	c.198 others(887): Show c.1986-8391_1986-8390insATGGATGGATGGGTGGGTGGGATGGA TGGGTGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGGGGAT GGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGAATGGGG GATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGATG GATGGGTGGGATGGATGGATGGATGGGATGGATGGGTGGGATGGATGGAT GGGTGGGTGGGATGGATGGGTGGATGGATGGATGGGTGGGATGGATGGAT GGGTGGGATGGATGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGA TGGATGGATGGATGGGTGGATGGATGGATGGGTGGTATGGATGGATGGGT GTGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGA TGGATGGGTGGGATGGATGGATGGATGGATGGATGGATGGGATGGATGAA TGGGGGATGGATGGATGGGGGATGGATGGATGGATGGTTGGGATGGATGG ATGGATGGGTGGGATGGATGGATGGATGGGTGGATGGATGGATGGGTGGT ATGGATGGATGGGTGTGATGGATGGATGGATGGGTGGGATGGATGGATGG ATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGATGGATGG ATGGGATGGATGAATGGGGGATGGATGGATGGGGGATGGATGGATGGATG GGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGATGGATGGGTG GGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGATGGATG GGTGGGATGGATGGATGGATGGGTGGATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBC1D22A_chr22_46757650_47180693	46878326	A A	AGAGAGAA others(861): Show AGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGTGAGAGGGAGAGAG AGAAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAA GGAGGTGGGAGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGT GGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAGGG GGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGAGA AGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGA GGTAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGAGG GGGAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAG AGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGAGG TGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGGGG GGAGAGGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGAGGGAGA GAAGGAGGTGGGAGGGGGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGG GAGGGGGGAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGGAGA GAGAAGGAGGTGGGGAGAGAAGGAGGTGGGAGTGGGGGAGAGAAGGAGGT GGGAGGGAGGGGGAGAAGGAGGTGGGATGGGGCAGAGAAGGAGGTGGGGG GAGAGAAGGAGGTGGGAGGGAGGGGGGAGAAGGAGGTGGGAGGGGGGAGA GAAGGGGGTGAGGGGGAGAGAAGGAGGTGGGAGGTGGGGAGAGAAGGAGG TGGGAGGGTGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	112	0.0089	868	c.638 others(883): Show c.638-306_638-305insGAGAGAGAAGGAGGTGAGAGGGAGAGAGAG AAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGG AGGTGGGAGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGG GAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAGGGGG AGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGAGAAG GAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGG TAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGAGGGG GAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAG AAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGAGGTG GGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGGGGGG AGAGGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGAGGGAGAGA AGGAGGTGGGAGGGGGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGA GGGGGGAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGGAGAGA GAAGGAGGTGGGGAGAGAAGGAGGTGGGAGTGGGGGAGAGAAGGAGGTGG GAGGGAGGGGGAGAAGGAGGTGGGATGGGGCAGAGAAGGAGGTGGGGGGA GAGAAGGAGGTGGGAGGGAGGGGGGAGAAGGAGGTGGGAGGGGGGAGAGA AGGGGGTGAGGGGGAGAGAAGGAGGTGGGAGGTGGGGAGAGAAGGAGGTG GGAGGGTGGGAGAGGGGGAGAGAAGGAGGTGGGAGGGA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCEA3_chr1_23375909_23429748	23392445	A A	AATACACA others(861): Show AATACACACACACTCCACACATCATACACACACACTCCACACATACACAC ACACACACTCCACACATCGTACACACACACATTCCACACATCATACACAC ACTCCACACACTATACACACCATACACACATTCCTTACATCATACGCACC ACACACACTCCACACATCATACACACACACATACTCCACACATCATACAC ACACACTCCACACATCATACACACACACTCCACACATCATACACAATACA CACATACTCCACACATCATACACACTGCACACACACTCCACACATCATAC ACACCACGCACACTCCACACATCATACACACACTCCATACATCACACACT CCACACATCACACACTCCACACATCATACACACATACTCCATAAATCATA CACAATACACACACACTGCACACATCATACACACCACAAACACTCCACAC ATCAGACAACACACTCCACACATCATACACAATACATACATACTCCACAC ATCATACACAGTGCACACACACTCCACACATCATACACACACACTCCACA CGTCATACACAAACACACTCCACACATCATACACACACACACTCCACACA TCATACACACACTCCATACATTATACTCACCACACATACTCCACACATCA TACACACACTCCATACATTATACTCACCACACATACTCCACACATCATAC ACACACACTCCACACATCATACACAATACACACACACTCCACACATCATA CACACCCACTCCACACATCATACACACACACACACTCCACACATCATACA CACACACGCACTCCACACATCATACACACATACACACACTCCACACCTCA TACACATACTCCATACATC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp2 HG01261.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0156 a0001c0001t0002g0342 a0001c0001t0001g0156 a0001c0001t0002g0342	2	378	0.0053	868	c.819 others(885): Show c.819+1433_819+1434insGATGTATGGAGTATGTGTATGAGGTGTG GAGTGTGTGTATGTGTGTATGATGTGTGGAGTGCGTGTGTGTGTATGATG TGTGGAGTGTGTGTGTGTGTATGATGTGTGGAGTGGGTGTGTATGATGTG TGGAGTGTGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTATGATGT GTGGAGTATGTGTGGTGAGTATAATGTATGGAGTGTGTGTATGATGTGTG GAGTATGTGTGGTGAGTATAATGTATGGAGTGTGTGTATGATGTGTGGAG TGTGTGTGTGTATGATGTGTGGAGTGTGTTTGTGTATGACGTGTGGAGTG TGTGTGTATGATGTGTGGAGTGTGTGTGCACTGTGTATGATGTGTGGAGT ATGTATGTATTGTGTATGATGTGTGGAGTGTGTTGTCTGATGTGTGGAGT GTTTGTGGTGTGTATGATGTGTGCAGTGTGTGTGTATTGTGTATGATTTA TGGAGTATGTGTGTATGATGTGTGGAGTGTGTGATGTGTGGAGTGTGTGA TGTATGGAGTGTGTGTATGATGTGTGGAGTGTGCGTGGTGTGTATGATGT GTGGAGTGTGTGTGCAGTGTGTATGATGTGTGGAGTATGTGTGTATTGTG TATGATGTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTGTGTATGAT GTGTGGAGTATGTGTGTGTGTATGATGTGTGGAGTGTGTGTGGTGCGTAT GATGTAAGGAATGTGTGTATGGTGTGTATAGTGTGTGGAGTGTGTGTATG ATGTGTGGAATGTGTGTGTGTACGATGTGTGGAGTGTGTGTGTGTGTATG TGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTGTGTAT	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(861): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0035 a0001c0011t0035	a0001c0011t0035g0174 a0001c0011t0035g0174	1	174	0.0058	868	c.41- others(885): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(861): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0009 a0001c0001t0014g0009	1	174	0.0058	868	c.41- others(885): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL8_chr22_50013575_50063298	50029363	C C	CCCCACAC others(861): Show CCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACA CACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTC GTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGA CCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCGTCCTAAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCA TCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAA GACCCCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACAC ACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTA AAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCC CATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACA CCGTCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACACCATCC TGAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGA CCCCACACACCCTCGTAAAGACCCCCATCACACCATCCTGAAGACCCCCA CACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCCACACACC CTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCATCCTGAAGACCCCCACACACCCTCGTAAAGACCC CATCACACCATCCTGAAGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0096 a0003c0003t0001g0096	1	224	0.0045	868	c.225 others(887): Show c.2251+1066_2251+1067insTCTTCAGGATGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAG GGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGT GGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGGT CTTCAGGATGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAG GACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGATGGT GTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGACGGTGTGATG GGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGT GTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTG GGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCT TCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGA CGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTG ATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGG TCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTAC GAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTG TGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGG TCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870126	A A	ACACACCA others(861): Show ACACACCACACAAACCACACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACAAACCACACACCCTACACACCCCACACA CACCACACACCACACACACCCCACACACACCACACCCCACACACACCACA CACCCCCCACACACACCACACCCCATACACACCACACCCCACACACACCA CACCCCATACACACCACACACCCCACACACACCACACACCCCACACACAC CACACCCCATACACACCACACCCCCCACACACCACACACCCCACACACAC CACACCCCACACACACCACACACACACCACACCCCACACACACCACACAC CCCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC CCCACACACACCACACACCCCACACACACCACACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC CCCATACACACCACACCCCATACACACCACACCCCACACACACCACACAC CCCACACACACCACACACCCCACACACACCACACCCCACACACACCACAC AAACCACACACCCTACACACCCCACACACACCACACACCACACACACCCC ACACACACCACACCCCACACACACCACACACCCCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACCCCATACACACCACACACC CCACACACACCACACACCCCACACACACCACACCCCATACACACCACACC CCCCACACACCACACACCC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	338	0.0030	868	c.35 others(887): Show c.35+21398_*35+21399insCACACAAACCACACACCCCACACACA CCACACCCCATACACACCACACCCCACACACACCACACACCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACCACACACACCCCACACACACCA CACCCCACACACACCACACACCCCCCACACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCATACACACCACACACCCCACACACAC CACACACCCCACACACACCACACCCCATACACACCACACCCCCCACACAC CACACACCCCACACACACCACACCCCACACACACCACACACACACCACAC CCCACACACACCACACACCCCCCACACACACCACACCCCATACACACCAC ACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCATACACACCAC ACCCCACACACACCACACCCCATACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACACCCCACACACACCAC ACCCCACACACACCACACAAACCACACACCCTACACACCCCACACACACC ACACACCACACACACCCCACACACACCACACCCCACACACACCACACACC CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACC CCATACACACCACACACCCCACACACACCACACACCCCACACACACCACA CCCCATACACACCACACCCCCCACACACCACACACCCCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(861): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCCTCCCCTCTCCTCCCCT CCCCTCCCCTCTCTCCTCCGCTCCGCTCCCCCTCTCCTCCACTCCTCTCC CCTCCCTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCACCCTCCCCTCCCCTCTCTCCTCCGC TCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCCTCTCCTCCC CTCCTCTCTCCTCCCCCTCCCCTCTCCTCCGCTCCTCTCCCCCTCCCTTC CCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTC CGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCCT CCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCT CTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCT CCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCT CCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCCC TCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTT TCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0010 a0001c0003t0002g0010	1	202	0.0050	868	c.53 others(879): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGGTGGGGAGGGG AGGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAG AGAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAG AGGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAG AGGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGGAGGAGAGAG GAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGG GAGCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGGAGA GGAGCGGAGGAGAGGGGAGGGGGAGGAGAGAGGAGGGGAGGAGAGGGGGA AGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGG GAGGGGAGGGTGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAG GGAGGGGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGG AGAGGGGGAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGG AGGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGGAGGGGAGGAGAGAGGAGG GGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGG GGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(861): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCTCCCTCCCTCCTT CCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCC CTCCCTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTCCCTTCC TCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCTCCCTCC CTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTCCCTTCC TCCCTCCCTCCTCCCTTCC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	326	0.0031	868	c.483 others(883): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCC TCCCTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTC CCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCC CTCCCTCCCTCCTGCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTCCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTC CCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTCCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCC TCCCTCCCTCCTCCCTTCCTCCCTCCCTCCTCCCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(862): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTTAAAAAA AAAAAAAAAAATACATATATATATATATATATATATATATATATATATAT ATATTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGGCCCACACCTG TAATCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACTTGAGGTCAGG AGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01361.hp1 HG01517.hp1 HG00323.hp1 HG01361.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133	3	336	0.0089	869	c.94+ others(884): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATATATATATATATATGTATTTTTTTTTTTTTTTTTAAAT ATATATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACCAGGCTGGAGT GCAGTGGCACCATCTCGGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGC AATTCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGACTACAGGCACA CGCCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTAGTAGAGACGGGG TTTCACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTC TGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGT GCCCAGCCGATAAATATATTTTTAAAGTAGCAAACCAATCATTATGGGAA AGAATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTATAGCTAAGTAT TGTATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGCCACTATTCAC TGTTCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATTTTTGAGACAG TGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCA CTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTT TTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
C4orf50_chr4_5954375_6023431	6004583	G G	GGTGATGG others(862): Show GGTGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGATGATGGTGATGATGGTGATGATGGTGACGGTGATG ATGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGATG TTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATAGTGATGAT GGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGTGATGGTGAT GATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGA TGATGATGGTGATGTGATGGTAATGGTGATGATGGTGATGGTGATGATGA TGTGGTGGTGATGGTGATGCTGATGATGGTGATGATGGTGATGGTGATGA TAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGATATTGATGGTGATGATATTGATGGTGATGATGGTGATGGTGAT GATGTGATGGTGATGATGGTGATGATGGTGATAGTTATGATGGTGATGGT GATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATGT GATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGATGGTGATGATGGTGATGATGGTGATGATGGTGATGATGGTGATGGT GATGATGGTGATGGTGATGATGACGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGGTGATGGAGATGGAGATGTTGGTGATGATGGTGATG GTGGTGATGATGTGATGGTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03579.hp1 HG02809.hp2 HG03579.hp1	a0032 a0032	a0032c0034 a0032c0034	a0032c0034t0000 a0032c0034t0000	a0032c0034t0000g0016 a0032c0034t0000g0331 a0032c0034t0000g0016 a0032c0034t0000g0331	2	346	0.0058	869	c.963 others(886): Show c.963+3412_963+3413insTACCATCACATCATCACCACCATCACCA TCATCACCAACATCTCCATCTCCATCACCACCATCACCATCATCACCATC ACCATCATCACCATCACCGTCATCATCACCATCACCATCATCACCATCAC CATCATCACCATCATCACCATCATCACCATCATCACCATCATCACCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCACCATCACCATC ATCACCATCACCATCATCACCATCATCACTATCATCACCATCACATCATC ACCATCACCATCATCACCATCATCACCATCATCAACATCATCACCATCAC CATCATAACTATCACCATCATCACCATCATCACCATCACATCATCACCAT CACCATCATCACCATCAATATCATCACCATCAATATCATCACCATCATCA CCATCACCATCATCACCATCACCATCATCACCATCATCACTATCATCACC ATCACCATCATCACCATCATCAGCATCACCATCACCACCACATCATCATC ACCATCACCATCATCACCATTACCATCACATCACCATCATCATCACCACC ATCACCATCATCACCATCACCATCATCACCATCACCATCATCATCACCAT CACATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCAC TATCATCACCATCACCATCATCACCATCATCACCATCATCAACATCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCACATCATCACCG TCACCATCATCACCATCATCACCATCATCACCATCACCATCATCACCATC ACCATCATCACCATCATCACTATCATCACCATCACCATCAC	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004583	G G	GGTGATGG others(862): Show GGTGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGATGATGGTGATGATGGTGATGATGGTGATGGTGATG ATGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGATG TTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATAGTGATGAT GGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGTGATGGTGAT GATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGA TGATGATGGTGATGTGATGGTAATGGTGATGATGGTGATGGTGATGATGA TGTGGTGGTGATGGTGATGCTGATGATGGTGATGATGGTGATGGTGATGA TAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGATATTGATGGTGATGATATTGATGGTGATGATGGTGATGGTGAT GATGTGATGGTGATGATGGTGATGATGGTGATAGTTATGATGGTGATGGT GATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATGT GATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGATGGTGATGATGGTGATGATGGTGATGATGGTGATGATGGTGATGGT GATGATGGTGATGGTGATGATGACGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGGTGATGGAGATGGAGATGTTGGTGATGATGGTGATG GTGGTGATGATGTGATGGTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18906.hp1 HG02109.hp2 NA18906.hp1	a0047 a0070 a0047 a0070	a0047c0052 a0070c0076 a0047c0052 a0070c0076	a0047c0052t0000 a0070c0076t0000 a0047c0052t0000 a0070c0076t0000	a0047c0052t0000g0029 a0070c0076t0000g0329 a0047c0052t0000g0029 a0070c0076t0000g0329	2	346	0.0058	869	c.963 others(886): Show c.963+3412_963+3413insTACCATCACATCATCACCACCATCACCA TCATCACCAACATCTCCATCTCCATCACCACCATCACCATCATCACCATC ACCATCATCACCATCACCGTCATCATCACCATCACCATCATCACCATCAC CATCATCACCATCATCACCATCATCACCATCATCACCATCATCACCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCACCATCACCATC ATCACCATCACCATCATCACCATCATCACTATCATCACCATCACATCATC ACCATCACCATCATCACCATCATCACCATCATCAACATCATCACCATCAC CATCATAACTATCACCATCATCACCATCATCACCATCACATCATCACCAT CACCATCATCACCATCAATATCATCACCATCAATATCATCACCATCATCA CCATCACCATCATCACCATCACCATCATCACCATCATCACTATCATCACC ATCACCATCATCACCATCATCAGCATCACCATCACCACCACATCATCATC ACCATCACCATCATCACCATTACCATCACATCACCATCATCATCACCACC ATCACCATCATCACCATCACCATCATCACCATCACCATCATCATCACCAT CACATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCAC TATCATCACCATCACCATCATCACCATCATCACCATCATCAACATCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCACATCATCACCA TCACCATCATCACCATCATCACCATCATCACCATCACCATCATCACCATC ACCATCATCACCATCATCACTATCATCACCATCACCATCAC	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CDCP1_chr3_45077277_45151378	45133446	T T	TGGTGGCT others(862): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGTGGA TTACCTAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCC CATCTCTGCTAAAAATACAAAATTAGCTGGGCGTGGTGGCACTTGCCTGT AATACCAGCTACTCGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGA GGTGGACGTTGCAGTGAGCTCAGATTGCGCCATTGCACTCCAGCCTGGGC AACAAGAGTGAAACTCCGTCTAAAAAAAAAAAAAAAAAAGAAAGAAAAAA TATATATACTTTTTTAAAGAAGAAAACCAATACAGAACTCTTAACTAGAT GGGGTACCAGGCAGGGAAAGATGGGGTGGTTTTTGTAGGACCTGCCGAGC TGCTCAAGGAAAGAAGTTTGGACAAATACAAAGTATTGTTTGGGATGCTG AGCCTCCCCTTCTGAGCTGAATTACCAGATGGAAGGTGTTATATAGATAA GCCAGCCTTTATGAAAATATTATATCAACAAGGATTTCTAAAACATTGGA TTTACTGTAAAACTTTAATGTCCAGGTACTGGAAGGTGACAGGAGGGAGG CAAATAAGTGGGTCAGAGAGAAGGTGATGATATGGCCAAGAGAGTTTGGC TGGGACCAAGTGTTTGCCCTGAAGCCCAGCTAGAGAAGAGCAGTGGTAAG AGACGCGTTTCAGCTTGTACCATTCAACACCAGCAGCAGAGAGGAGTGCT GGAGTTTTTTGTCCTAAACACCACTCTGACTGTCCACCTTTCCCTTTACA CTAGTGAGGGGGCTGCAGTGGCTCCAGAAAATGTTCTGTCGGTAGGAAAG AGGCTAGCAGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19030.hp1 NA18522.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0016 a0002c0002t0001 a0002c0005t0016	a0002c0002t0001g0366 a0002c0005t0016g0251 a0002c0002t0001g0366 a0002c0005t0016g0251	2	384	0.0052	869	c.82+ others(886): Show c.82+12759_82+12760insGCGCCCGGCCCTGCTAGCCTCTTTCCTA CCGACAGAACATTTTCTGGAGCCACTGCAGCCCCCTCACTAGTGTAAAGG GAAAGGTGGACAGTCAGAGTGGTGTTTAGGACAAAAAACTCCAGCACTCC TCTCTGCTGCTGGTGTTGAATGGTACAAGCTGAAACGCGTCTCTTACCAC TGCTCTTCTCTAGCTGGGCTTCAGGGCAAACACTTGGTCCCAGCCAAACT CTCTTGGCCATATCATCACCTTCTCTCTGACCCACTTATTTGCCTCCCTC CTGTCACCTTCCAGTACCTGGACATTAAAGTTTTACAGTAAATCCAATGT TTTAGAAATCCTTGTTGATATAATATTTTCATAAAGGCTGGCTTATCTAT ATAACACCTTCCATCTGGTAATTCAGCTCAGAAGGGGAGGCTCAGCATCC CAAACAATACTTTGTATTTGTCCAAACTTCTTTCCTTGAGCAGCTCGGCA GGTCCTACAAAAACCACCCCATCTTTCCCTGCCTGGTACCCCATCTAGTT AAGAGTTCTGTATTGGTTTTCTTCTTTAAAAAAGTATATATATTTTTTCT TTCTTTTTTTTTTTTTTTTTTAGACGGAGTTTCACTCTTGTTGCCCAGGC TGGAGTGCAATGGCGCAATCTGAGCTCACTGCAACGTCCACCTCCTGGGT TCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGTATTACAGGCAA GTGCCACCACGCCCAGCTAATTTTGTATTTTTAGCAGAGATGGGGTTTCT CCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTTAGGTAATCCACCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	1/8			chr3	TogoVar
CDCP1_chr3_45077277_45151378	45133446	T T	TGGTGGCT others(862): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGTGGA TTACCTAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCC CATCTCTGCTAAAAATACAAAATTAGCTGGGCGTGGTGGCACTTGCCTGT AATACCAGCTACTCGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGA GGTGGAGGTTGCAGTGAGCTCAGATTGCGCCATTGCACTCCAGCCTGGGC AACAAGAGTGAAACTCCGTCTAAAAAAAAAAAAAAAAAAGAAAGAAAAAA TATATATACTTTTTTAAAGAAGAAAACCAATACAGAACTCTTAACTAGAT GGGGTACCAGGCAGGGAAAGATGGGGTGGTTTTTGTAGGACCTGCCGAGC TGCTCAAGGAAAGAAGTTTGGACAAATACAAAGTATTGTTTGGGATGCTG AGCCTCCCCTTCTGAGCTGAATTACCAGATGGAAGGTGTTATATAGATAA GCCAGCCTTTATGAAAATATTATATCAACAAGGATTTCTAAAACATTGGA TTTACTGTAAAACTTTAATGTCCAGGTACTGGAAGGTGACAGGAGGGAGG CAAATAAGTGGGTCAGAGAGAAGGTGATGATATGGCCAAGAGAGTTTGGC TGGGACCAAGTGTTTGCCCTGAAGCCCAGCTAGAGAAGAGCAGTGGTAAG AGACGCGTTTCAGCTTGTACCATTCAACACCAGCAGCAGAGAGGAGTGCT GGAGTTTTTTGTCCTAAACACCACTCTGACTGTCCACCTTTCCCTTTACA CTAGTGAGGGGGCTGCAGTGGCTCCAGAAAATGTTCTGTCGGTAGGAAAG AGGCTAGCAGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG01358.hp1 others(10): Show HG00735.hp2 HG01109.hp2 HG01358.hp1 HG01934.hp1 HG02148.hp1 HG02148.hp2 HG02559.hp1 HG02818.hp2 HG02922.hp1 HG03098.hp1 HG03139.hp1 HG03471.hp1 NA20129.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0019 others(2): Show a0001c0001 a0001c0003 a0001c0019 a0003c0006 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0042 a0001c0003t0015 a0001c0003t0026 a0001c0019t0001 a0003c0006t0007 a0004c0009t0007	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0002g0236 others(10): Show a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0002g0236 a0001c0001t0003g0121 a0001c0001t0008g0234 a0001c0001t0009g0153 a0001c0001t0018g0137 a0001c0001t0042g0256 a0001c0003t0015g0048 a0001c0003t0026g0144 a0001c0019t0001g0122 a0003c0006t0007g0246 a0004c0009t0007g0270	13	384	0.0339	869	c.82+ others(886): Show c.82+12759_82+12760insGCGCCCGGCCCTGCTAGCCTCTTTCCTA CCGACAGAACATTTTCTGGAGCCACTGCAGCCCCCTCACTAGTGTAAAGG GAAAGGTGGACAGTCAGAGTGGTGTTTAGGACAAAAAACTCCAGCACTCC TCTCTGCTGCTGGTGTTGAATGGTACAAGCTGAAACGCGTCTCTTACCAC TGCTCTTCTCTAGCTGGGCTTCAGGGCAAACACTTGGTCCCAGCCAAACT CTCTTGGCCATATCATCACCTTCTCTCTGACCCACTTATTTGCCTCCCTC CTGTCACCTTCCAGTACCTGGACATTAAAGTTTTACAGTAAATCCAATGT TTTAGAAATCCTTGTTGATATAATATTTTCATAAAGGCTGGCTTATCTAT ATAACACCTTCCATCTGGTAATTCAGCTCAGAAGGGGAGGCTCAGCATCC CAAACAATACTTTGTATTTGTCCAAACTTCTTTCCTTGAGCAGCTCGGCA GGTCCTACAAAAACCACCCCATCTTTCCCTGCCTGGTACCCCATCTAGTT AAGAGTTCTGTATTGGTTTTCTTCTTTAAAAAAGTATATATATTTTTTCT TTCTTTTTTTTTTTTTTTTTTAGACGGAGTTTCACTCTTGTTGCCCAGGC TGGAGTGCAATGGCGCAATCTGAGCTCACTGCAACCTCCACCTCCTGGGT TCAAGCGATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGTATTACAGGCAA GTGCCACCACGCCCAGCTAATTTTGTATTTTTAGCAGAGATGGGGTTTCT CCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTTAGGTAATCCACCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	1/8			chr3	TogoVar
CDH23_chr10_71391920_71820947	71688971	T T	TCAGGGGT others(862): Show TCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCGTGGACCCAGG GATGGTGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGATGG TGGAGCCAGAGGTGGTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAG CCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGG GGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGG TGGAGCCAGGGATGGTGGAGCCAGGTGTGGTGGAGTCAGGGGTGTTGGAG CCAGGGATGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAAC GGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGG TGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAG CCAACGGTGGTGGAGTCAGGGGTGGTGGAGTCCAGGGTGGTGGAGCCAGG GGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGG TGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAG CCAGAGGTGGTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGG GGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGG TGGAGTCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAG CCAACGGTGGTGGAGTCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAGG GGTGGTGGAGCCAGGGGTGGTGGAGCCAGGGATGGTGGAGTCAGGGGTGG TGGAGCCAGGGGTGGTGGAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0004 a0004	a0004c0037 a0004c0037	a0004c0037t0005 a0004c0037t0005	a0004c0037t0005g0155 a0004c0037t0005g0155	1	196	0.0051	869	c.205 others(888): Show c.2059+1253_2059+1254insAGGGGTAGAGGAGTCAGGGATGGTGG AGTCAAGTGCCGTGGACCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCA GGGATGGTGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGGAT GGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGG AGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCA GGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAGCCAGGTGT GGTGGAGTCAGGGGTGTTGGAGCCAGGGATGGTGGAGTCAGGGGTGGTGG AGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCA GGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGTCAGGGGT GGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGGTGGTGG AGTCCAGGGTGGTGGAGCCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCA AGTGCCGTGGACCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGAT GGTGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGGATGGTGG AGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCA GGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGTCAGGGGT GGTGGAGCCAGGGATGGTGGAGCCAACGGTGGTGGAGTCAGGGGTGGTGG AGTCAGGGATGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCA GGGATGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGC	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDKN2AIPNL_chr5_134397065_134416881	134407262	C C	CACACACA others(862): Show CACACACACACACACACACACACACACACACTTCACACTGGTCTATAGAT AATGTTTGGGACGTGCCAAACCTCCTTAGTCTCCTACTGGGGTCTGCAGC CCAATGTCATTAGGTGTTCTGATCTCTAATACCCAACATGACTGGAAAGA GTTCAGATACCTTTCAGAAAACATATAAGACAGAGAAGTATAATGGAGAA CTGATATAAAAAATCAGAAAACCTTGCTGGGCACAGTGGCTAACGCATGT AATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCATTTGAGACCAGCC TGGGGAACATAGCAAAACCCAGTCTCTACAAAAATTAGCCAAGCATGGTG GTACACACCTGTAGTCCCAGCTACTGGGGAGGCTAAGGTGCAAGGATCAC TTGAGCCTGGCAGGTCAAGGCTGCGGGTAGCCGTGAGCAAGCCACTGCAC TCCAGCCTGAGCCACAGAGAGAGACCCCTGTCTGAAAACAAAACTGGCAA AACTCTATGCACCCTCTAAGTATCTCACTTTTCAGGATCAGCTGAATTTC ACTTAGAGTGGCATCAACAGACTAAAGTTAAACCTGGCTACTTAGAAAAA CATAAGTTTTATTTGAAGGAAGTTGCAACACACAATTCAAAAATGCTATA GAAGTATGGCCTCTATATAGGCTTCTTCCACATAGCTAACTGCTAATGAT TAGTAAGATGGCGGCACTGGTTTCAAGAAGATAATTTCATGCCTGAGGAC TCTTCTCTGTAGACTCACACTGTGCAATGACAGTGTCAAGAATGAACATC CCAGGGCAGGGGCTCTGTACATTTTTTAGGTATAAGACCCCTTTAGGATG TTTCAGAAAGACCCTTCCTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	380	0.0026	869	c.339 others(886): Show c.339+2640_339+2641insTAGGAAGGGTCTTTCTGAAACATCCTAA AGGGGTCTTATACCTAAAAAATGTACAGAGCCCCTGCCCTGGGATGTTCA TTCTTGACACTGTCATTGCACAGTGTGAGTCTACAGAGAAGAGTCCTCAG GCATGAAATTATCTTCTTGAAACCAGTGCCGCCATCTTACTAATCATTAG CAGTTAGCTATGTGGAAGAAGCCTATATAGAGGCCATACTTCTATAGCAT TTTTGAATTGTGTGTTGCAACTTCCTTCAAATAAAACTTATGTTTTTCTA AGTAGCCAGGTTTAACTTTAGTCTGTTGATGCCACTCTAAGTGAAATTCA GCTGATCCTGAAAAGTGAGATACTTAGAGGGTGCATAGAGTTTTGCCAGT TTTGTTTTCAGACAGGGGTCTCTCTCTGTGGCTCAGGCTGGAGTGCAGTG GCTTGCTCACGGCTACCCGCAGCCTTGACCTGCCAGGCTCAAGTGATCCT TGCACCTTAGCCTCCCCAGTAGCTGGGACTACAGGTGTGTACCACCATGC TTGGCTAATTTTTGTAGAGACTGGGTTTTGCTATGTTCCCCAGGCTGGTC TCAAATGATCCACCTGCCTCAGCTTCCCAAAGTGCTGGGATTACATGCGT TAGCCACTGTGCCCAGCAAGGTTTTCTGATTTTTTATATCAGTTCTCCAT TATACTTCTCTGTCTTATATGTTTTCTGAAAGGTATCTGAACTCTTTCCA GTCATGTTGGGTATTAGAGATCAGAACACCTAATGACATTGGGCTGCAGA CCCCAGTAGGAGACTAAGGAGGTTTGGCACGTCCCAAACATTATCTATAG ACCAGTGTGAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CDKN2AIPNL	ENSG00000237190.4	transcript	ENST00000458198.3	protein_coding	2/2			chr5	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(862): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGCAATATATATTATATA TATTATATATGCAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT ATTATATATTACATATGTAATATATATTACATATGTAATATATATTATAT ATGTAATATATATTACATATATTACATATGTAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATAATATATATTATATATGTA ATATATATTACATATGTAATATATATTATATATGTAATATATAATATATA TTATATATGTAATATATATTATATATGTAATATATATTATATATGTAATA TATATTATATATGTAATATATAATATATATTATATATGTAATATATATTA TATATGTAATATATATTATATATGTAATATATTACATATATAATATATAT TACATATATAATATATATTATATATGTAATATATATTATATATGTAATAT ATAATATATATTATATATGTAATATATAATATATATTATATATGTAATAT ATAATATATATTATATATGTAATATATATTATATATATTATATATGTAAT ATATATTATATATATTATATATGTAATATATATTATATATTATATATGTA ATATATATTATATATGTAATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	236	0.0042	869	c.342 others(890): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT TACATATGTAATATATATTATATATGTAATATATATTACATATATTACAT ATGTAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATATTACATATGTAATATATATT ATATATGTAATATATAATATATATTATATATGTAATATATATTATATATG TAATATATATTATATATGTAATATATATTATATATGTAATATATAATATA TATTATATATGTAATATATATTATATATGTAATATATATTATATATGTAA TATATTACATATATAATATATATTACATATATAATATATATTATATATGT AATATATATTATATATGTAATATATAATATATATTATATATGTAATATAT AATATATATTATATATGTAATATATAATATATATTATATATGTAATATAT ATTATATATATTATATATGTAATATATATTATATATATTATATATGTAAT ATATATTATATATTATATATGTAATATATATTATATATGTAATATATGTA ATATATATTATATATGTAATATATGTAATATATATTATATATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(862): Show CCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCCGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATCCATC CATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCAT CCATTCATCCACCATCCATCCACCATCCATCCATCCATCCATCCACCATC CATCCATCCACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCAT CCATCCGTCCATCCACCATCCATTCACCCATCCATCCATTCATCCATCCA TCCACCATCCATCCATTAATTCATCCATCCATCCATCCATCCATTCATCC ATCCACCATCCATCCATCCATCCACCATCCATCCATCCACATCCATCCAT TCATACATCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCCAT TCATTCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCA TCCACCCATCCATCCACCATCCATCCATCCAGCATCCATCCATCCATCTA TTCATCCATCCATCCATCCATCCGTCCATCCATCCATCCTCCATCCATCC ATCCATCCATCAACCATCCATCCATGCATCCATTCATCCATCCACCATCC ATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0201 a0001c0003t0003g0201	1	272	0.0037	869	c.110 others(886): Show c.110-5471_110-5470insCCATTCATCCATCCACCATCCATCCATC CATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCC ATCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATC CATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCAT CCATCCATCCATGCATCCGTCATCCATCCACCATCCATCCATTCATTCAT CCATCCATCTGTCCATCCATCCATCCATCCATCCATCCACCATCCATTCA CCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCC ATCCATCCATCCATTCATCCACCATCCATCCACCATCCATCCATCCATCC ATCCACCATCCATCCATCCACCATCCATCCATTCATCCATCCATCTGTCC ATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCATCCATCCATT CATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCAT CCATTCATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCAC ATCCATCCATTCATACATCCATCATCCTCCCATTCATCCATCCATCCACC ATCCATCCATTCATTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCATCCATCCACCATCCATCCATCCAGCATCCATC CATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCATCCATCCT CCATCCATCCATCCATCCATCAACCATCCATCCATGCATCCATTCATCCA TCCACCATCCATCCACCATCCATCCACCATCATCCATCCAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(862): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCACCAT CCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCCATGC ATCCGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCTGTCC ATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATCCATCCATT CATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCAT TCATCCACCATCCATCCACCATCCATCCATCCATCCATCCACCATCCATC CATCCACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCATCCAT CCGTCCATCCACCATCCATTCACCCATCCATCCATTCATCCATCCATCCA CCATCCATCCATTAATTCATCCATCCATCCATCCATCCATTCATCCATCC ACCATCCATCCATCCATCCACCATCCATCCATCCACATCCATCCATTCAT ACATCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCCATTCAT TCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCA TCCACCCATCCATCCACCATCCATCCATCCAGCATCCATCCATCCATCTA TTCATCCATCCATCCATCCATCCGTCCATCCATCCATCCTCCATCCATCC ATCCATCCATCAACCATCCATCCATGCATCCATTCATCCATCCACCATCC ATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG02129.hp2 others(3): Show HG00642.hp1 HG01109.hp2 HG02129.hp2 NA18995.hp2 NA19007.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0002c0017 a0002c0042	a0001c0002t0005 a0001c0003t0001 a0001c0004t0001 others(2): Show a0001c0002t0005 a0001c0003t0001 a0001c0004t0001 a0002c0017t0003 a0002c0042t0002	a0001c0002t0005g0060 a0001c0003t0001g0269 a0001c0003t0001g0270 others(3): Show a0001c0002t0005g0060 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0004t0001g0225 a0002c0017t0003g0223 a0002c0042t0002g0234	6	272	0.0221	869	c.110 others(886): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATC CATCCATGCATCCGTCATCCATCCACCATCCATCCATTCATTCATCCATC CATCTGTCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCAT CCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCA TCCATCCATTCATCCACCATCCATCCACCATCCATCCATCCATCCATCCA CCATCCATCCATCCACCATCCATCCATTCATCCATCCATCTGTCCATCCA TCCATCCATCCGTCCATCCACCATCCATTCACCCATCCATCCATTCATCC ATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATCCATT CATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACATCCA TCCATTCATACATCCATCATCCTCCCATTCATCCATCCATCCACCATCCA TCCATTCATTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CACCATCCATCCACCCATCCATCCACCATCCATCCATCCAGCATCCATCC ATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCATCCATCCTC CATCCATCCATCCATCCATCAACCATCCATCCATGCATCCATTCATCCAT CCACCATCCATCCACCATCCATCCACCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
FHIT_chr3_59742277_61256452	60861204	T T	TATATATG others(862): Show TATATATGATATATATGATATATATCATATGATATGATATATATGATATA TATGATATATATCATATGATATGATATATATGATATATATGATATATATC ATATGATATGATATATATGATATATATGATATATATCATATGATATGATA TATATGATATATATGATATATATCATATGATATGATATATATGATATATA TGATATATATCATATGATATGATATATATGATATATATGATATATATCAT ATGATATGATATATATGATATATATGATATATATCATATGATATGATATA TATGATATATATCATATATATGATATATATGATATATATCATATGATATA TATGATATATATCATATATATCATATCTCATATGATATATATCATATATA TCATATCTCATATGATATATATGATATATATGATATATCATATATATCAT ATATGATATATATGATATATATGATATATCATATCATATCATATATATGA TATATATGATATATATGATATATCATATCATATCATATATGATATATATG ATATATATGATATATCATATCATATCATATATGATATATATGATATATAT GATATATCATATCATATCATATATGATATATATGATATATATGATATATC ATATCATATCATATATGATATATATGATATATATGATATATCATATCATA TCATATATGATATATATGATATATATGATATATCATATCATATCATATAT GATATATATGATATATATGATATATCATATCATATCATATATGATATATA TGATATATATGATATATCATATCATATCATATATGATATATATGATATAT ATGATATATCATATCATATC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	1	46	0.0217	869	c.-11 others(890): Show c.-110-39194_-110-39193insGATATGATATGATATATCATATAT ATCATATATATCATATATGATATGATATGATATATCATATATATCATATA TATCATATATGATATGATATGATATATCATATATATCATATATATCATAT ATGATATGATATGATATATCATATATATCATATATATCATATATGATATG ATATGATATATCATATATATCATATATATCATATATGATATGATATGATA TATCATATATATCATATATATCATATATGATATGATATGATATATCATAT ATATCATATATATCATATATGATATGATATGATATATCATATATATCATA TATATCATATATGATATGATATGATATATCATATATATCATATATATCAT ATATATGATATGATATGATATATCATATATATCATATATATCATATATGA TATATATGATATATCATATATATCATATATATCATATGAGATATGATATA TATGATATATATCATATGAGATATGATATATATGATATATATCATATATA TCATATGATATATATCATATATATCATATATATGATATATATCATATATA TCATATCATATGATATATATCATATATATCATATATATCATATCATATGA TATATATCATATATATCATATATATCATATCATATGATATATATCATATA TATCATATATATCATATCATATGATATATATCATATATATCATATATATC ATATCATATGATATATATCATATATATCATATATATCATATCATATGATA TATATCATATATATCATATATATCATATCATATGATATATATCATATATA TCATATATATCATATCATATGATATATATCATATATATCATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435244	A A	AAGGAAGG others(862): Show AAGGAAGGAAGGAAGAGAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGA GGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGG GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGG GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAGGAAGGGACGGAGGGAGGGAAGAAGGGATGGAGGGAGGGAGGAAGG GACGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGAAGGGACGGAGGGAG GGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGG ATGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAG GGAGGAAGGGACGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGATGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGAAGGGAC GGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGG AGGGAGGGACGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp2 HG02723.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0064 a0001c0001t0042 a0001c0001t0064	a0001c0001t0042g0059 a0001c0001t0064g0085 a0001c0001t0042g0059 a0001c0001t0064g0085	2	96	0.0208	869	c.-16 others(890): Show c.-168+58181_-168+58182insCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTCCGTCCCTTCCTCCCTC CCTCCATCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCC TTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTC CCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCC TTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTC CCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCC TTCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCATCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTCCGTCCCTT CCTCCCTCCCTCCATCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCC TCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTT CCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCC TCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTT CTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCCC TCCGTCCCTTCTTCCCTCCCTCCGTCCCTCTCTTCCTTCCTTCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
INPP5A_chr10_132532787_132788480	132718900	C C	CGCCTTAG others(862): Show CGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTACCTGGGTTCTGTCTGG GCGCCTTAGACGACTGTCTTGCGGGTTCTGTGGTACCTGGGTTCTGTCTG GGCGCCTTAGACGACTGTCTTGCGGGTTCTGTGGTACCTGGGTTCTGTCT GGGCGCCTTAGACGGCTGTCTCGCGGGTTCTGTGGTACCTGGGTTCTGTC TGGGCACCTTAGACGACTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTGT CTGGGTGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTACCTGGGTTCTG TCTGGGCACCTTAGACGACTGTCTTGGGGGTTCTGTGGTACCTGGGTTCT GTCTGGGCACCTTAGACAGCTGTCTTCAGGGTTCTGTGGCAACTGGGTTC TGTCTGGGCGCCTTAGGCGGCTGTCTTCAGGGTTCTGTGGTACCTGGGTT CTGTCTGGGCGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTACCTGGGT TCTGTCTGGGCACCTTAGACGGCTGTCTTCAGGGTTCTGTGGTACCTGGG TTCTGTCTGGGCACCTTAGACGGCTGTCTTGCGGGTTCTGTGGTACCTGG GTTCTGTCTGGGCGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTGCCTG GGTTCTGTCTGGGTGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTGCCT GGGTTCTTTCTGGAGGCGCCTTAGACAGCTGTCTTGCGGGTTCTGTGGTA CCTGGGTTCTGTCTGGGCACCTTAGACGGCTGTCTTGCAGGTTCTGTGGT ACCTGGGTTCTGTCTGGGCGCCTTAGACGGCTGTCTTCAGGGTTCTGTGG TACCTGGGTTCTTTCTGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0201 a0001c0001t0004g0201	1	204	0.0049	869	c.648 others(886): Show c.648-7901_648-7033dupCGGGTTCTGTGGTACCTGGGTTCTGTCT GGGCGCCTTAGACGACTGTCTTGCGGGTTCTGTGGTACCTGGGTTCTGTC TGGGCGCCTTAGACGACTGTCTTGCGGGTTCTGTGGTACCTGGGTTCTGT CTGGGCGCCTTAGACGGCTGTCTCGCGGGTTCTGTGGTACCTGGGTTCTG TCTGGGCACCTTAGACGACTGTCTTCAGGGTTCTGTGGTACCTGGGTTCT GTCTGGGTGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTACCTGGGTTC TGTCTGGGCACCTTAGACGACTGTCTTGGGGGTTCTGTGGTACCTGGGTT CTGTCTGGGCACCTTAGACAGCTGTCTTCAGGGTTCTGTGGCAACTGGGT TCTGTCTGGGCGCCTTAGGCGGCTGTCTTCAGGGTTCTGTGGTACCTGGG TTCTGTCTGGGCGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTACCTGG GTTCTGTCTGGGCACCTTAGACGGCTGTCTTCAGGGTTCTGTGGTACCTG GGTTCTGTCTGGGCACCTTAGACGGCTGTCTTGCGGGTTCTGTGGTACCT GGGTTCTGTCTGGGCGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTGCC TGGGTTCTGTCTGGGTGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTGC CTGGGTTCTTTCTGGAGGCGCCTTAGACAGCTGTCTTGCGGGTTCTGTGG TACCTGGGTTCTGTCTGGGCACCTTAGACGGCTGTCTTGCAGGTTCTGTG GTACCTGGGTTCTGTCTGGGCGCCTTAGACGGCTGTCTTCAGGGTTCTGT GGTACCTGGGTTCTTTCTGTGTGCCTTAGACGGCTGTCTTG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INS_chr11_2154779_2166209	2161579	G G	GACCCCTG others(862): Show GACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCC CTGTGCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGGACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC GGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCA CACCCCTGTCCCCCGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAG GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAC ACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTAT CCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACA CCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGT CCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACAC CCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTC CCCAGGACCCCTGTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	376	0.0027	869	c.-43 others(878): Show c.-430_-429insGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGA CAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTC CTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCC GGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAG GGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTCTG GGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGG GGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGG GGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGG GGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGG GTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGG GGACAGGGGTCTGAGGACAGGGGTGTGGGCACAGGGGTCCTGGGGACAGG GGTCCTGGGGACAGGGGTCCTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		371		chr11	TogoVar
JUND_chr19_18274694_18286622	18284520	A A	AAATAATA others(862): Show AAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAG ACCTGGCCTGGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGA ATCCAAAGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCA ACATGGTGAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTG GTGGCGAATGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAAT TGCTTGAGCCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTG CACTGCAGCCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAA TAATAATAATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCC CTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACC AGCTTGGCCAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTA GCCAGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAG GCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGAT CGCGCCAGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTG GGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCT ACTAAAAATACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAG GTTGCGGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGC GAAACTCTGCCTAAAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0000 a0003c0003t0002g0000	1	408	0.0025	869	c.-30 others(880): Show c.-3037_-3036insATTATTTTAGGCAGAGTTTCGCTCGTTGCCCAGG CTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGG TTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCA TGCGCCACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCA ATGGCGCGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTG CAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAG TAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTT GTAGTGGAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTC GACCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAG GCGAGAGCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATT GAGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCT TGGCTCACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCA GCCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAAT TTTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTC TTGATCTCCTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGG GATTATAGGAGTGAGCCATCGCGCACCAGGCCAGGTCTTTATTATTATTA TTATTATTATTATTATTATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2899		chr19	TogoVar
JUND_chr19_18274694_18286622	18284520	A A	ATAATAAT others(862): Show ATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAA GACCTGGCCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAA TCCAAAGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAA CATGGTGAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGG TGGCGAATGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATT GCTTGAGCCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTGC ACTGCAGCCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAAT AATAATAATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCCC TTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCA GCTTGGCCAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAG CCAGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGG CAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATC GCGCCAGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGG GCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTA CTAAAAATACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGG TTGCGGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCG AAACTCTGCCTAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	408	0.0025	869	c.-30 others(880): Show c.-3037_-3036insATTATTATTAGGCAGAGTTTCGCTCGTTGCCCAG GCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGG GTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGC ATGCGCCACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGC AATGGCGCGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACT GCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGA GTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATT TGTAGTGGAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCT CGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACA GGCGAGAGCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTAT TGAGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATC TTGGCTCACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTC AGCCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAA TTTTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGT CTTGATCTCCTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTG GGATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTAT TATTATTATTATTATTATTATTATTATTATTATTA	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2899		chr19	TogoVar
JUND_chr19_18274694_18286622	18284563	A A	AATAAAGA others(862): Show AATAAAGACCTGGCCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTT TGGGAATCCAAAGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCT GGCCAACATGGTGAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGG GCGTGGTGGCGAATGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGG AGAATTGCTTGAGCCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGC CACTGCACTGCAGCCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAAT AATAATAATAATAATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCC CAGCCCTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCG AGACCAGCTTGGCCAGCATGGTGAAACCCCGTCTCCACTACAAATACAAA AATTAGCCAGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAG CTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCC AAGATCGCGCCAGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCA GCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCG TCTCTACTAAAAATACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAA TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAAT TGGAGGTTGCGGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAA CGAGCGAAACTCTGCCTAAAATAATAATAATAATAATAATAATAATAATA ATAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	408	0.0025	869	c.-30 others(880): Show c.-3080_-3079insATTATTATTATTATTATTATTATTATTATTATTA TTATTATTATTATTATTTTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGA GTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAA CCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGC CACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGC GCGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGCAACC TCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCT GGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGT GGAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCT CAGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGAG AGCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAGAC GGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGGCT CACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCCTC CCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTTTG AATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGAT CTCCTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGGGATTA TAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTAT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2942		chr19	TogoVar
KIF16B_chr20_16267104_16578448	16288419	G G	GTGATAAG others(862): Show GTGATAAGGTTATTGGGATCCCATCATAAGTGGAAGAGCATCTGTATGGT ATGTACCTTGGTAAACACAGTATGTACTGGTGATAAGGTTATTGGGATCC CATCATAAGTGGAAGAGCATCTGTATGGTATGTACCTTAGTAAGTACAGT ATGTACTGGTGATAAGGTTATTGGGATCCCATCATAAGTGGAAGAGCATC TGTATGGTATGTACCTTAGTAAACACAGTATGTACTGATGATAAGGTTAT TGGGATCCCATCATAAGTGGAAGAGCATCTGTATGGTATGTACCTTAGTA AACACAGTATGTACTGATGATAAGGTTATTGGGATCCCATCATAAGTGGA ACAGCATCTGTATGGTATGTACCTTAGTAAACACAGTATGTACTGGTGAT AAGGTTATTGGGATCCCATCATAAGTGGAAGAGCATCTGTATGGTATGTA CCTTAGTAAACACAGTATGTACTGATGATAAGGTTATTGGGATCCCATCA TAAGTGGAAGAGCATCTGTATGGTATGTACCTTAGTAAACACAGTATGTA CTGGTGATAAGGTTACTGGGATCCCATCATAAGTGGAACAGCATCTGTAT GGTATGTACCTTAGTAAACACAGTATGTACTGGTGATAAGGTTACTGGGA TCCCATCATAAGTGGAAGAGCATCTGTATGGTATGTACCTTAGTAAACAC AGTATGTACTGATGATAAGGTTATTGGGATCCCATCATAAGTGGAACAGC ATCTGTATGGTATGTACCTTAGTAAACACAGTATGTACTGGTGATAAGGT TATTGGGATCCCATCATAAGTGGAAGAGCATCTGTATGGTATGTACCTCA GTAAACACAGTATGTACCGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01071.hp1 others(2): Show HG00642.hp2 HG01069.hp2 HG01071.hp1 HG03017.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0013 a0001c0002t0007 a0001c0001t0007 a0001c0001t0013 a0001c0002t0007	a0001c0001t0007g0196 a0001c0001t0007g0204 a0001c0001t0013g0210 others(2): Show a0001c0001t0007g0196 a0001c0001t0007g0204 a0001c0001t0013g0210 a0001c0001t0013g0213 a0001c0002t0007g0097	5	250	0.0200	869	c.379 others(890): Show c.3796-15009_3796-15008insTCGGTACATACTGTGTTTACTGAG GTACATACCATACAGATGCTCTTCCACTTATGATGGGATCCCAATAACCT TATCACCAGTACATACTGTGTTTACTAAGGTACATACCATACAGATGCTG TTCCACTTATGATGGGATCCCAATAACCTTATCATCAGTACATACTGTGT TTACTAAGGTACATACCATACAGATGCTCTTCCACTTATGATGGGATCCC AGTAACCTTATCACCAGTACATACTGTGTTTACTAAGGTACATACCATAC AGATGCTGTTCCACTTATGATGGGATCCCAGTAACCTTATCACCAGTACA TACTGTGTTTACTAAGGTACATACCATACAGATGCTCTTCCACTTATGAT GGGATCCCAATAACCTTATCATCAGTACATACTGTGTTTACTAAGGTACA TACCATACAGATGCTCTTCCACTTATGATGGGATCCCAATAACCTTATCA CCAGTACATACTGTGTTTACTAAGGTACATACCATACAGATGCTGTTCCA CTTATGATGGGATCCCAATAACCTTATCATCAGTACATACTGTGTTTACT AAGGTACATACCATACAGATGCTCTTCCACTTATGATGGGATCCCAATAA CCTTATCATCAGTACATACTGTGTTTACTAAGGTACATACCATACAGATG CTCTTCCACTTATGATGGGATCCCAATAACCTTATCACCAGTACATACTG TACTTACTAAGGTACATACCATACAGATGCTCTTCCACTTATGATGGGAT CCCAATAACCTTATCACCAGTACATACTGTGTTTACCAAGGTACATACCA TACAGATGCTCTTCCACTTATGATGGGATCCCAATAACCTTATCA	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	25/25			chr20	TogoVar
KIF16B_chr20_16267104_16578448	16288419	G G	GTGATAAG others(862): Show GTGATAAGGTTATTGGGATCCCATCATAAGTGGAAGAGCATCTGTATGGT ATGTACCTTGGTAAACACAGTATGTACTGGTGATAAGGTTATTGGGATCC CATCATAAGTGGAAGAGCATCTGTATGGTATGTACCTTAGTAAGTACAGT ATGTACTGGTGATAAGGTTATTGGGATCCCATCATAAGTGGAAGAGCATC TGTATGGTATGTACCTTAGTAAACACAGTATGTACTGATGATAAGGTTAT TGGGATCCCATCATAAGTGGAAGAGCATCTGTATGGTATGTACCTTAGTA AACACAGTATGTACTGATGATAAGGTTATTGGGATCCCATCATAAGTGGA ACAGCATCTGTATGGTATGTACCTTAGTAAACACAGTATGTACTGGTGAT AAGGTTATTGGGATCCCATCATAAGTGGAAGAGCATCTGTATGGTATGTA CCTTAGTAAACACAGTATGTACTGATGATAAGGTTATTGGGATCCCATCA TAAGTGGAAGAGCATCTGTATGGTATGTACCTTAGTAAACACAGTATGTA CTGGTGATAAGGTTACTGGGATCCCATCATAAGTGGAACAGCATCTGTAT GGTATGTACCTTAGTAAACACAGTATGTACTGGTGATAAGGTTACTGGGA TCCCATCATAAGTGGAAGAGCATCTGTATGGTATGTACCTTAGTAAACAC AGTATGTACTGATGATAAGGTTATTGGGATCCCATCATAAGTGGAACAGC ATCTGTATGGTATGTACCTTAGTAAACACAGTATGTACTGGTGATAAGGT TATTGGGATCCCATCATAAGTGGAAGAGCATCTGTATGGTATGTACCTCA GTAAACACAGTATGTACTGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01433.hp2 HG03491.hp1 others(1): Show HG01192.hp2 HG01433.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0006t0007 a0001c0005t0001 a0001c0006t0007	a0001c0005t0001g0090 a0001c0005t0001g0091 a0001c0006t0007g0113 others(1): Show a0001c0005t0001g0090 a0001c0005t0001g0091 a0001c0006t0007g0113 a0001c0006t0007g0117	4	250	0.0160	869	c.379 others(890): Show c.3796-15009_3796-15008insTCAGTACATACTGTGTTTACTGAG GTACATACCATACAGATGCTCTTCCACTTATGATGGGATCCCAATAACCT TATCACCAGTACATACTGTGTTTACTAAGGTACATACCATACAGATGCTG TTCCACTTATGATGGGATCCCAATAACCTTATCATCAGTACATACTGTGT TTACTAAGGTACATACCATACAGATGCTCTTCCACTTATGATGGGATCCC AGTAACCTTATCACCAGTACATACTGTGTTTACTAAGGTACATACCATAC AGATGCTGTTCCACTTATGATGGGATCCCAGTAACCTTATCACCAGTACA TACTGTGTTTACTAAGGTACATACCATACAGATGCTCTTCCACTTATGAT GGGATCCCAATAACCTTATCATCAGTACATACTGTGTTTACTAAGGTACA TACCATACAGATGCTCTTCCACTTATGATGGGATCCCAATAACCTTATCA CCAGTACATACTGTGTTTACTAAGGTACATACCATACAGATGCTGTTCCA CTTATGATGGGATCCCAATAACCTTATCATCAGTACATACTGTGTTTACT AAGGTACATACCATACAGATGCTCTTCCACTTATGATGGGATCCCAATAA CCTTATCATCAGTACATACTGTGTTTACTAAGGTACATACCATACAGATG CTCTTCCACTTATGATGGGATCCCAATAACCTTATCACCAGTACATACTG TACTTACTAAGGTACATACCATACAGATGCTCTTCCACTTATGATGGGAT CCCAATAACCTTATCACCAGTACATACTGTGTTTACCAAGGTACATACCA TACAGATGCTCTTCCACTTATGATGGGATCCCAATAACCTTATCA	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	25/25			chr20	TogoVar
KIF16B_chr20_16267104_16578448	16288478	A A	GGTAAACA others(862): Show GGTAAACACAGTATGTACTGGTGATAAGGTTATTGGGATCCCATCATAAG TGGAAGAGCATCTGTATGGTATGTACCTTAGTAAGTACAGTATGTACTGG TGATAAGGTTATTGGGATCCCATCATAAGTGGAAGAGCATCTGTATGGTA TGTACCTTAGTAAACACAGTATGTACTGATGATAAGGTTATTGGGAACCC ATCATAAGTGGAAGAGCATCTGTATGGTATGTACCTTAGTAAACACAGTA TGTACTGATGATAAGGTTATTGGGATCCCATCATAAGTGGAACAGCATCT GTATGGTATGTACCTTAGTAAACACAGTATGTACTGGTGATAAGGTTATT GGGATCCCATCATAAGTGGAAGAGCATCTGTATGGTATGTACCTTAGTAA ACACAGTATGTACTGATGATAAGGTTATTGGGATCCCATCATAAGTGGAA GAGCATCTGTATGGTATGTACCTTAGTAAACACAGTATGTACTGGTGATA AGGTTACTGGGATCCCATCATAAGTGGAACAGCATCTGTATGGTATGTAC CTTAGTAAACACAGTATGTACTGGTGATAAGGTTACTGGGATCCCATCAT AAGTGGAAGAGCATCTGTATGGTATGTACCTTAGTAAACACAGTATGTAC TGATGATAAGGTTATTGGGATCCCATCATAAGTGGAACAGCATCTGTATG GTATGTACCTTAGTAAACACAGTATGTACTGGTGATAAGGTTATTGGGAT CCCATCATAAGTGGAAGAGCATCTGTATGGTATGTACCTCAGTAAACACA GTATGTACCGATGATAAGGTTATTGGGATCCCATCATAAGTGGAAGAGCA TCTGTATGGTATGTACCTTA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0047 a0002c0003t0001g0047	1	250	0.0040	869	c.379 others(890): Show c.3796-15067_3796-15066insAAGGTACATACCATACAGATGCTC TTCCACTTATGATGGGATCCCAATAACCTTATCATCGGTACATACTGTGT TTACTGAGGTACATACCATACAGATGCTCTTCCACTTATGATGGGATCCC AATAACCTTATCACCAGTACATACTGTGTTTACTAAGGTACATACCATAC AGATGCTGTTCCACTTATGATGGGATCCCAATAACCTTATCATCAGTACA TACTGTGTTTACTAAGGTACATACCATACAGATGCTCTTCCACTTATGAT GGGATCCCAGTAACCTTATCACCAGTACATACTGTGTTTACTAAGGTACA TACCATACAGATGCTGTTCCACTTATGATGGGATCCCAGTAACCTTATCA CCAGTACATACTGTGTTTACTAAGGTACATACCATACAGATGCTCTTCCA CTTATGATGGGATCCCAATAACCTTATCATCAGTACATACTGTGTTTACT AAGGTACATACCATACAGATGCTCTTCCACTTATGATGGGATCCCAATAA CCTTATCACCAGTACATACTGTGTTTACTAAGGTACATACCATACAGATG CTGTTCCACTTATGATGGGATCCCAATAACCTTATCATCAGTACATACTG TGTTTACTAAGGTACATACCATACAGATGCTCTTCCACTTATGATGGGTT CCCAATAACCTTATCATCAGTACATACTGTGTTTACTAAGGTACATACCA TACAGATGCTCTTCCACTTATGATGGGATCCCAATAACCTTATCACCAGT ACATACTGTACTTACTAAGGTACATACCATACAGATGCTCTTCCACTTAT GATGGGATCCCAATAACCTTATCACCAGTACATACTGTGTTTACC	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	25/25			chr20	TogoVar
LDLRAD3_chr11_35939062_36237136	36055106	A A	ATAGAGGG others(862): Show ATAGAGGGATAGTTGGATGAATGGATGGATGGATAGATGGATGGATGGAT GGGTGGATGAATGGATGGATGGATGCATGGATGGATGGATGGATGGTTGG ATGAATGGATGGATGGGTGCATGGATGGATGGATGGATGGATGGATGGAT GAATGGATGGATGGGTGCATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGCATGGATGGATGGACGATGGATACATGGATGCATGGATG GATGGATGCATGGATGGATGGATGATGGATACATGGATGCATGGATGGAT GGTTGGATGGATGGATGCATGGATGCATGGATGGATGGATGCATGGGTGG ATGGATGCATGGATGGATGGATGGATGGATGGATGGATAAATGGATGCAT GGATGCATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGCATGGATGGATGGATGAATGGATGGATGGATGGAT GGATGAATGGATGAATGGATGAATGGATGGATGAGTAGGTGGAAGGGTAG ATAGATAGATGGGTGGGTCAGTGGATGGATGGATAGTTGGGTGGTTGAGT AGGTGGATGGATGAATGGGTAGATTTATGGGCCGATGTGTAAAGACAGAG GTCTCTCATTCCACAACCACATGTCCTACTGGAAGCCTTCTCTCCCTTCC TATCCAGGCTAGGTAGATGCCCCTTGTCCCTGCTCCCATAGCATTGCCTC TCTCTACATTTGACTTGTAAACAAGAAGATACAGTAAACTGTTATAGTTT TCATTTTCCAAGGAATCAGATGCTTCAGTACAGCCAGGAAAAGGTCTGAT ACACCTTGTTCACTGTTATC	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18612.hp1 NA19056.hp1 HG03831.hp1 NA18612.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003	a0001c0001t0003g0076 a0001c0002t0001g0183 a0001c0002t0003g0080 a0001c0001t0003g0076 a0001c0002t0001g0183 a0001c0002t0003g0080	3	236	0.0127	869	c.193 others(888): Show c.193+18857_193+18858insTAGAGGGATAGTTGGATGAATGGATG GATGGATAGATGGATGGATGGATGGGTGGATGAATGGATGGATGGATGCA TGGATGGATGGATGGATGGTTGGATGAATGGATGGATGGGTGCATGGATG GATGGATGGATGGATGGATGGATGAATGGATGGATGGGTGCATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGCATGGATGGATGGACG ATGGATACATGGATGCATGGATGGATGGATGCATGGATGGATGGATGATG GATACATGGATGCATGGATGGATGGTTGGATGGATGGATGCATGGATGCA TGGATGGATGGATGCATGGGTGGATGGATGCATGGATGGATGGATGGATG GATGGATGGATAAATGGATGCATGGATGCATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATAGATGCATGGATGGATG GATGAATGGATGGATGGATGGATGGATGAATGGATGAATGGATGAATGGA TGGATGAGTAGGTGGAAGGGTAGATAGATAGATGGGTGGGTCAGTGGATG GATGGATAGTTGGGTGGTTGAGTAGGTGGATGGATGAATGGGTAGATTTA TGGGCCGATGTGTAAAGACAGAGGTCTCTCATTCCACAACCACATGTCCT ACTGGAAGCCTTCTCTCCCTTCCTATCCAGGCTAGGTAGATGCCCCTTGT CCCTGCTCCCATAGCATTGCCTCTCTCTACATTTGACTTGTAAACAAGAA GATACAGTAAACTGTTATAGTTTTCATTTTCCAAGGAATCAGATGCTTCA GTACAGCCAGGAAAAGGTCTGATACACCTTGTTCACTGTTATC	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
LMF1_chr16_848634_975984	859063	G G	GTGTCTCG others(862): Show GTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACG GGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGCAGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGT GCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGG TGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGT GCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAG TGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGT CACGGGACGGGTGTGAGTGA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0091 a0001c0004t0001g0091	1	294	0.0034	869	c.153 others(888): Show c.1530-4358_1530-4357insTCACTCACACCCGTCCCGTGACACCA CTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACT CACACCCGTCCCGTGACACCACTCACACCCATCCCGAGACACCACTCACA CCCATCCCGTGACACCACTCACACCCATCCCGTGACATCACTGCACACCC ATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCATC CCGAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCGTCCCG AGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCA CTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTG CACACCCGTCCCCTGACACCACTCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCC CTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTC CCGAGACACCACTCACACCCGTCCCGTGACAACACTGCACACCCGTCCCG AGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGAC ACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC27_chr10_132327193_132386508	132364368	T T	TACACCCA others(862): Show TACACCCACGCTTACATCTACCTCCACACCCGCACTTACACCCACGCTTA CATCTACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCCACA CCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACC CACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACA CCCACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCA CACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACT TACACCCACACTTACATCTACCTCCACACCCACACTTACACCCACGTCCA CACCCTGGGGCCCCACACTCAGGCAGTCCGCGTCCACGCTTACATCTACC TCCACGCCCACACTTAACACCCACCCACACTTACATCTACCTGCACACCC ACGCTTACACCCACGTCCACACCGTGGGGCCCCACACTCATGCAGTCCGC GTCCACGCTTACACCTACCTCCACGCCCACACTTACACTCATGCTTACAT CTACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACCCTTAC ACCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTTACACTCATGCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCTCC ACACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTAC ACTCATGCTTACATCTACCTCCACACCCACACTTACACTCATGCTTACAT CTACCTCCACACCCACACTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	290	0.0035	869	c.129 others(888): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCGCAC TTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACGCTT ACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCACACTTACACCCACACTTACATCTACCTCCACACCCACAC TTACACCCACGTCCACACCCTGGGGCCCCACACTCAGGCAGTCCGCGTCC ACGCTTACATCTACCTCCACGCCCACACTTAACACCCACCCACACTTACA TCTACCTGCACACCCACGCTTACACCCACGTCCACACCGTGGGGCCCCAC ACTCATGCAGTCCGCGTCCACGCTTACACCTACCTCCACGCCCACACTTA CACTCATGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACT TACACCCACCCTTACACCTACCTCCACACCCACACTTACACCCACCCACA CTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACTCATGCT TACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACC CTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATCTACCTC CACACCCACACTTACACTCATGCTTACATCTACCTCCACACCCACACTTA CACTCATGCTTACATCTACCTCCACACCCACACTCACACCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC7_chr1_69562922_70149364	69916173	A A	AATATATA others(862): Show AATATATATATTAGATACATATTTTATATATATTATATATATTATATACA TATTTTATATATATATTATATATATTATATACATATTTTATATATATAAT ATATATATTATATACATATTTTATATATATAATATATATATTATATACAT ATTTTATATATATAATATATATTATATACATATTTTATATATATAATATA TATTATATACATATTTTATATATATTATATATTATATACATATTTTATAT ATAATATATATTATATACATATTTTATATATATAATATATATATTATATA CATATTTTATATATATAATATATATATTATATACATATTTTATATATTAT ATATATTATATACATATTTTATATATTATATATATTATATACATATTTTA TATATTATATATATTATATACATATTTTATATATTATATATATAATATAC ATATTTTATATATAATATATAATATACATATTTTATACATATAATATATA TAATATACATATTTTATACATATAATATATATAATATACATATTTTATAC ATATAATATATATAATATATATAATATACATATTTTATACATATAATATA TATTATATACATATTTTATACATATAATATATATAATATACATATTTTAT ACATATAATATATATTATATACATATTTTATACATATAATATATATTATA TACATATTTTATACATATAATATATATTATATACATATTTTATATATATA ATATATATTATATACATATTTTATATATATTATATATATTATATACATAT TTTATATATATTATATATTATATACATATTTTATATATATTATATATATT ATATACATATTTTATATATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02970.hp2 HG03130.hp2 HG00738.hp2 HG02970.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0018 a0001c0001t0046 a0001c0001t0013 a0001c0001t0018 a0001c0001t0046	a0001c0001t0013g0084 a0001c0001t0018g0023 a0001c0001t0046g0078 a0001c0001t0013g0084 a0001c0001t0018g0023 a0001c0001t0046g0078	3	108	0.0278	869	c.648 others(888): Show c.648-15326_648-15325insATTAGATACATATTTTATATATATTA TATATATTATATACATATTTTATATATATATTATATATATTATATACATA TTTTATATATATAATATATATATTATATACATATTTTATATATATAATAT ATATATTATATACATATTTTATATATATAATATATATTATATACATATTT TATATATATAATATATATTATATACATATTTTATATATATTATATATTAT ATACATATTTTATATATAATATATATTATATACATATTTTATATATATAA TATATATATTATATACATATTTTATATATATAATATATATATTATATACA TATTTTATATATTATATATATTATATACATATTTTATATATTATATATAT TATATACATATTTTATATATTATATATATTATATACATATTTTATATATT ATATATATAATATACATATTTTATATATAATATATAATATACATATTTTA TACATATAATATATATAATATACATATTTTATACATATAATATATATAAT ATACATATTTTATACATATAATATATATAATATATATAATATACATATTT TATACATATAATATATATTATATACATATTTTATACATATAATATATATA ATATACATATTTTATACATATAATATATATTATATACATATTTTATACAT ATAATATATATTATATACATATTTTATACATATAATATATATTATATACA TATTTTATATATATAATATATATTATATACATATTTTATATATATTATAT ATATTATATACATATTTTATATATATTATATATTATATACATATTTTATA TATATTATATATATTATATACATATTTTATATATTATATATAT	LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
LSS_chr21_46183446_46233774	46184673	A A	ACCCAGTG others(862): Show ACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCACCCACCACCA CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCA GGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTC CAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGATGGGCACCCACCACCACCAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGG CCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCACCAACCCAGTG GGCCGGCCACACCTCCAGCCCTGTGACGGGCACTCAGGACCACCAACAAC CCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACC AACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACC ACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCC ACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCA CCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGG GCACCCACCACCACCACCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0013	1	358	0.0028	869	c.64 others(880): Show c.6430_*6431insATGGTGGTGGTGGTGGGTGCCCATCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTA CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCC TGAGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGG TGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTG GGTTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGGTGTGGCCGGCCCA CTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGC CCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCC GGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGT GTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGGCT GGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATCAC AGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGT CACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCC CATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3772		chr21	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(862): Show CCTCCCCCTCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCT CCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTC CCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCGTC CCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCCC CTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCC CCTCCCTCTCCCCCTTTCCCCTCCCCCTCTTCCCCCTCCTCCTCATCCCC CTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCCTCTCTCCCC TTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCCCTCCCCCTC TTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCC TCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCT CTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCT CTCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCTT CCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCC CACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCTCCTCTTCCCCT CCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCTCCCCCTCTCCC TCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCT CCCCACTCTCCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCC CCACCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0100 a0001c0001t0012g0100	1	276	0.0036	869	c.100 others(888): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCC CCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCAC TTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCCCCCTCTTCCCCC TCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCT CTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCT TCCCCCTCCCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCC TCTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCC CATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCC CCATTCCCCTCCCTCTCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCC TCTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCC CCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCT CCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTC CCTCCCCCTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCT TCTCCCCCACCCCTCCCCACTCTCCCTCCCCCTCTCCCCCTCTCCCCCTC TCCCCCCTTCTCCCCCACCCCTCCCCCTCCCCCTCTCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GGGAAGGG others(862): Show GGGAAGGGGGGAAGGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGG AAGGAGGAAGGCGGAAAGGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAG GGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGGAAGGGGGAA AGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGGA AGGGGGGAAGGGGGGAAGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGG GGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGGGAAGGGGGAAAG GGGTGAGGGGAGGATGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGG GGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGAG GGAGGAGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAG GGAGGGGAGGGGAGGGGGGAGGGAGGGAGGGGAGGGGGGAGGGGAGGGGG AGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGAGGAAGGGGAAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGAGGGGAGGGG GGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGA GTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGA GGGAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGA GGGGAGGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	272	0.0037	869	c.250 others(884): Show c.250+583_250+584insACCCTCCCTCCCCCCTCCCCTCCCTCCCCC TCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCCC CCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCT CCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCCCTCCCCT CCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTTCCCCTTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCTCCTCCCTCCCCTCCC CTCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCT TCCCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCC CCACCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCCTT CCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTC CCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGC CCCTCCCCTTCTCCCCTCCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTT CCCCCTCCTTCCCCCTCCTTCCCCCCCTTCCCCCCTTCC	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
OGDHL_chr10_49729641_49767323	49742423	C C	CACACCAC others(862): Show CACACCACACACATACACACTCCACACACACCACACATATATCACACACA CCACATACACACTCCACACACACCACACATACATCACACACACCATACAC CACACACACACCACACACTACACACCACACCCACCCACGCATACCACACA TATCCCCTTACATACCACACACATCCCCTACACACACGCCACATACACAC ACCATACACATCCCCCACAGACACACATACCCCTACATACCACACACATC CCCTACACACATGCCATACACACACCATACACATCCCCCACAGACACACA TACACACCACACACATACACAAACACTGCACACATACACACCCCACACAT ACAACACACACGACACACCACACACATACACAAACACTGCACACATACAC ACCCCACACATACAACACACACGACACACCACACACATACACAAACACTG CACACATACACACCCCACACATACAACACACACGACACACCACACAACCA TACAGACACAAACACATACACCACACACACCACATACACAACAAACATGC CACACACAAATACCACACACACCACATACACACACCCCCCATTCACCACA CACCACATACACACCATTCACACTACACATACACTCCACACACACACCAC ATACACACCATACACACCACACATATCTCCACACACACACCACATACATA CACATCCCATCCACACACACCACACACCCACACACACACACTCCAAACTC CACACACATACTCCAAACACCACACAAATACACCTACACACACATCACAC ACCCACACCACACCCACACCACACAAACATGCCACACACATACCCCACAC CATACACACACACACCAAAT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	316	0.0032	869	c.201 others(886): Show c.2012+404_2012+405insATTTGGTGTGTGTGTGTATGGTGTGGGG TATGTGTGTGGCATGTTTGTGTGGTGTGGGTGTGGTGTGGGTGTGTGATG TGTGTGTAGGTGTATTTGTGTGGTGTTTGGAGTATGTGTGTGGAGTTTGG AGTGTGTGTGTGTGGGTGTGTGGTGTGTGTGGATGGGATGTGTATGTATG TGGTGTGTGTGTGGAGATATGTGTGGTGTGTATGGTGTGTATGTGGTGTG TGTGTGGAGTGTATGTGTAGTGTGAATGGTGTGTATGTGGTGTGTGGTGA ATGGGGGGTGTGTGTATGTGGTGTGTGTGGTATTTGTGTGTGGCATGTTT GTTGTGTATGTGGTGTGTGTGGTGTATGTGTTTGTGTCTGTATGGTTGTG TGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGTGCAGTGTTT GTGTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGT GTGCAGTGTTTGTGTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGG GGTGTGTATGTGTGCAGTGTTTGTGTATGTGTGTGGTGTGTATGTGTGTC TGTGGGGGATGTGTATGGTGTGTGTATGGCATGTGTGTAGGGGATGTGTG TGGTATGTAGGGGTATGTGTGTCTGTGGGGGATGTGTATGGTGTGTGTAT GTGGCGTGTGTGTAGGGGATGTGTGTGGTATGTAAGGGGATATGTGTGGT ATGCGTGGGTGGGTGTGGTGTGTAGTGTGTGGTGTGTGTGTGGTGTATGG TGTGTGTGATGTATGTGTGGTGTGTGTGGAGTGTGTATGTGGTGTGTGTG ATATATGTGTGGTGTGTGTGGAGTGTGTATGTGTGTGGTGT	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	15/22			chr10	TogoVar
OGDHL_chr10_49729641_49767323	49742423	C C	CACACCAC others(862): Show CACACCACACACATACACACTCCACACACACCACACATATATCACACACA CCACATACACACTCCACACACACCACACATACATCACACACACCATACAC CACACACACACCACACACTACACACCACACCCACCCACGCATACCACACA TATCCCCTTACATACCACACACATCCCCTACACACACGCCACATACACAC ACCATACACATCCCCCACAGACACACATACCCCTACATACCACACACATC CCCTACACACATGCCATACACACACCATACACATCCCCCACAGACACACA TACACACCACACACATACACAAACACTGCACACATACACACCCCACACAT ACAACACACACGACACACCACACACATACACAAACACTGCACACATACAC ACCCCACACATACAACACACACGACACACCACACACATACACAAACACTG CACACATACACACCCCACACATACAACACACACGACACACCACACAACCA TACAGACACAAACACATACACCACACACACCACATACACAACAAACATGC CACACACAAATACCACACACACCACATACACACACCCCCCATTCACCACA CACCACATACACACCATTCACACTACACATACACTCCACACACACCACAT ACACACCATACACACCACACATATCTCCACACACACACCACATACATACA CATCCCATCCACACACACCACACACCCACACACACACACTCCAAACTCCA CACACATACTCCAAACACCACACAAATACACCTACACACACATCACACAC CCACACCACACCCACACCACACAAACATGCCACACACATACCCCACACCA TACACACACACACACCAAAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0008 a0008	a0008c0027 a0008c0027	a0008c0027t0002 a0008c0027t0002	a0008c0027t0002g0112 a0008c0027t0002g0112	1	316	0.0032	869	c.201 others(886): Show c.2012+404_2012+405insATTTGGTGTGTGTGTGTGTATGGTGTGG GGTATGTGTGTGGCATGTTTGTGTGGTGTGGGTGTGGTGTGGGTGTGTGA TGTGTGTGTAGGTGTATTTGTGTGGTGTTTGGAGTATGTGTGTGGAGTTT GGAGTGTGTGTGTGTGGGTGTGTGGTGTGTGTGGATGGGATGTGTATGTA TGTGGTGTGTGTGTGGAGATATGTGTGGTGTGTATGGTGTGTATGTGGTG TGTGTGGAGTGTATGTGTAGTGTGAATGGTGTGTATGTGGTGTGTGGTGA ATGGGGGGTGTGTGTATGTGGTGTGTGTGGTATTTGTGTGTGGCATGTTT GTTGTGTATGTGGTGTGTGTGGTGTATGTGTTTGTGTCTGTATGGTTGTG TGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGTGCAGTGTTT GTGTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGT GTGCAGTGTTTGTGTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGG GGTGTGTATGTGTGCAGTGTTTGTGTATGTGTGTGGTGTGTATGTGTGTC TGTGGGGGATGTGTATGGTGTGTGTATGGCATGTGTGTAGGGGATGTGTG TGGTATGTAGGGGTATGTGTGTCTGTGGGGGATGTGTATGGTGTGTGTAT GTGGCGTGTGTGTAGGGGATGTGTGTGGTATGTAAGGGGATATGTGTGGT ATGCGTGGGTGGGTGTGGTGTGTAGTGTGTGGTGTGTGTGTGGTGTATGG TGTGTGTGATGTATGTGTGGTGTGTGTGGAGTGTGTATGTGGTGTGTGTG ATATATGTGTGGTGTGTGTGGAGTGTGTATGTGTGTGGTGT	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	15/22			chr10	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(862): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTC TCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTC CTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCGTCTTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18906.hp2 NA21309.hp1 HG01891.hp1 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0128 a0001c0001t0001g0177 a0001c0001t0002g0080 a0001c0001t0001g0128 a0001c0001t0001g0177 a0001c0001t0002g0080	3	312	0.0096	869	c.306 others(888): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTC TTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCGTCTTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCTTCCTCCCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(862): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTG ATGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGT GGTGGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGATGGTGG TGGTGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATG GTGATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAAT GATAGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGG TGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTG ATGATGGTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGAT GATAATGATAGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGTGA TGATGGTGATGGTGATGATGGTGTTGGTGATGGTGATGGTGGTGGTGGTG ATGGTGGTGGTGATGATGGTGATGGTGAAGGTGTTGATGGTGATGGTGGT GGTGATGATGATGGTGGTGATGATGGTGATGGTGGTGATGATGATGGTGA TGATGGTGATGGTGATGATGGTGATAATGATAGTGGTGATGATGGTGATG ATGATAGTGATGATGATGGTGATGATGGTGATGGCGGCGATGATGGTGAT GATGATGGTGATGGTTGTGATGATGTTGGTGATGGTGGTGATGATGATGG CATGATGGCAGTGATTCAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01069.hp1 others(44): Show HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02273.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 NA19030.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0012 a0001c0014 a0001c0022 a0002c0003 a0002c0007 a0002c0015 a0003c0011	a0001c0001t0001 a0001c0001t0012 a0001c0001t0020 others(38): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0020 a0001c0001t0022 a0001c0001t0028 a0001c0001t0053 a0001c0001t0072 a0001c0001t0077 a0001c0001t0086 a0001c0001t0087 a0001c0002t0001 a0001c0002t0006 a0001c0002t0017 a0001c0002t0027 a0001c0002t0050 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0004t0073 a0001c0006t0011 a0001c0006t0013 a0001c0006t0024 a0001c0006t0039 a0001c0008t0001 a0001c0008t0002 a0001c0012t0009 a0001c0014t0030 a0001c0014t0068 a0001c0022t0057 a0002c0003t0001 a0002c0003t0004 a0002c0003t0006 a0002c0003t0007 a0002c0003t0029 a0002c0003t0051 a0002c0007t0001 a0002c0007t0002 a0002c0007t0019 a0002c0007t0024 a0002c0015t0014 a0003c0011t0001	a0001c0001t0001g0150 a0001c0001t0001g0201 a0001c0001t0012g0129 others(44): Show a0001c0001t0001g0150 a0001c0001t0001g0201 a0001c0001t0012g0129 a0001c0001t0020g0105 a0001c0001t0022g0040 a0001c0001t0028g0126 a0001c0001t0053g0154 a0001c0001t0072g0008 a0001c0001t0077g0036 a0001c0001t0086g0033 a0001c0001t0087g0062 a0001c0002t0001g0208 a0001c0002t0006g0149 a0001c0002t0017g0177 a0001c0002t0027g0148 a0001c0002t0027g0166 a0001c0002t0050g0017 a0001c0004t0004g0051 a0001c0004t0007g0038 a0001c0004t0010g0174 a0001c0004t0073g0143 a0001c0006t0011g0039 a0001c0006t0011g0065 a0001c0006t0013g0133 a0001c0006t0024g0026 a0001c0006t0039g0140 a0001c0008t0001g0005 a0001c0008t0002g0059 a0001c0012t0009g0113 a0001c0012t0009g0193 a0001c0014t0030g0178 a0001c0014t0068g0159 a0001c0022t0057g0139 a0002c0003t0001g0107 a0002c0003t0004g0127 a0002c0003t0004g0128 a0002c0003t0006g0009 a0002c0003t0007g0103 a0002c0003t0029g0106 a0002c0003t0051g0079 a0002c0007t0001g0001 a0002c0007t0002g0045 a0002c0007t0019g0020 a0002c0007t0024g0070 a0002c0015t0014g0073 a0003c0011t0001g0056 a0003c0011t0001g0057	47	210	0.2238	869	c.438 others(888): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTG ATGATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGAT GATGGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGATGG TGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGGTGATGGTGATG GTGGTGATGATGGTGATGGTGATAATGATAGTGGTGATGATGGTGATGGT GGTGATGATGGTGATAATGATAGTGGTGATGGTGGTGATGATGGTGATGG TGATGATGGTGATGGTGGTGGTGATGGTGGTGATGATGGTGATGGTGATG ATGATGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGT GGTGGTGGTGATGGTGATGATAATGATAGTGGTGATGATGGTGATGGTGG TGGTGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGTTGGTGATG GTGATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGAAGGT GTTGATGGTGATGGTGGTGGTGATGATGATGGTGGTGATGATGGTGATGG TGGTGATGATGATGGTGATGATGGTGATGGTGATGATGGTGATAATGATA GTGGTGATGATGGTGATGATGATAGTGATGATGATGGTGATGATGGTGAT GGCGGCGATGATGGTGATGATGATGGTGATGGTTGTGATGATGTTGGTGA TGGTGGTGATGATGATGGCATGATGGCAGTGATTCAAGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 7053 hits)