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
GRM4_chr6_34013643_34151087	34073265	C C	CCCCACAC others(727): Show CCCCACACACAGACTCACACATCACCACACAGATACACAACACACACACA TATCACACAGATACAGACCACACACACACACAATCACCACATAGATACAC ACCACACACACACACACATCACCACATAGATACACACCACACACACATCA CCATACAGATACACACCACACACACATCTCCACACATTACCATACAAATA TACGCCATCCACACACACCCACACATCACCACACAGATACACACCACAGA CACATAATCACCACACACCACACAGACACACACATCACCACACAGATACA CACCACACACACCCCCATACATCACCACACAGATACACACCACGCACCAC ACAGATACACACCACACACACCCACACATCACCACACAGATACATACCAC ACACACACACAATCACCACACACCACCACACAGGTACAAACCCACAAATC ACCACACAGATACACACCCCACACAGACACATGCACATACATCACACACA CACCACACACACACATCGCCACACAGACACACACCCACATCACCACACAG CTACATACCACACACACACACCACCACACATCACCACACAGATGCACAAC ACACACCCACACATCACCACACAGACACACACACACACATCATCAGATAC ACACCACATGCACGTCACCACACAGATACCACACACACGTCATCGGATAC ACACCACGCACACGTCACCACGCAGATACCACACA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	282	0.0036	734	c.737 others(753): Show c.737-11238_737-11237insTGTGTGGTATCTGCGTGGTGACGTGT GCGTGGTGTGTATCCGATGACGTGTGTGTGGTATCTGTGTGGTGACGTGC ATGTGGTGTGTATCTGATGATGTGTGTGTGTGTGTCTGTGTGGTGATGTG TGGGTGTGTGTTGTGCATCTGTGTGGTGATGTGTGGTGGTGTGTGTGTGT GGTATGTAGCTGTGTGGTGATGTGGGTGTGTGTCTGTGTGGCGATGTGTG TGTGTGGTGTGTGTGTGATGTATGTGCATGTGTCTGTGTGGGGTGTGTAT CTGTGTGGTGATTTGTGGGTTTGTACCTGTGTGGTGGTGTGTGGTGATTG TGTGTGTGTGTGGTATGTATCTGTGTGGTGATGTGTGGGTGTGTGTGGTG TGTATCTGTGTGGTGCGTGGTGTGTATCTGTGTGGTGATGTATGGGGGTG TGTGTGGTGTGTATCTGTGTGGTGATGTGTGTGTCTGTGTGGTGTGTGGT GATTATGTGTCTGTGGTGTGTATCTGTGTGGTGATGTGTGGGTGTGTGTG GATGGCGTATATTTGTATGGTAATGTGTGGAGATGTGTGTGTGGTGTGTA TCTGTATGGTGATGTGTGTGTGGTGTGTATCTATGTGGTGATGTGTGTGT GTGTGTGGTGTGTATCTATGTGGTGATTGTGTGTGTGTGTGGTCTGTATC TGTGTGATATGTGTGTGTGTTGTGTATCTGTGTGGTGATGTGTGAGTCTG TGTGTGGG	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
GRM4_chr6_34013643_34151087	34073265	C C	CCCCACAC others(727): Show CCCCACACACAGACTCACACATCACCACACAGATACACAACACACACACA TATCACACAGATACAGACCACACACACACACAATCACCACATAGATACAC ACCACACACACACACACATCACCACATAGATACACACCACACACACATCA CCATACAGATACACACCACACACACATCTCCACACATTACCATACAAATA TACGCCATCCACACACACCCACACATCACCACACAGATACACACCACAGA CACATAATCACCACACACCACACAGACACACACATCACCACACAGATACA CACCACACACACCCCCATACATCACCACACAGATACACACCACGCACCAC ACAGATACACACCACACACACCCACACATCACCACACAGATACATACCAC ACACACACACAATCACCACACACCACCACACAGGTACAAACCCACAAATC ACCACACAGATACACACCCCACACAGACACATGCACATACATCACACACA CACCACACACACACATCGCCACACAGACACACACCGACATCACCACACAG CTACATACCACACACACACACCACCACACATCACCACACAGATGCACAAC ACACACCCACACATCACCACACAGACACACACACACACATCATCAGATAC ACACCACATGCACGTCACCACACAGATACCACACACACGTCATCGGATAC ACACCACGCACACGTCACCACACAGATACCACACA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0210 a0001c0003t0003g0210	1	282	0.0036	734	c.737 others(753): Show c.737-11238_737-11237insTGTGTGGTATCTGTGTGGTGACGTGT GCGTGGTGTGTATCCGATGACGTGTGTGTGGTATCTGTGTGGTGACGTGC ATGTGGTGTGTATCTGATGATGTGTGTGTGTGTGTCTGTGTGGTGATGTG TGGGTGTGTGTTGTGCATCTGTGTGGTGATGTGTGGTGGTGTGTGTGTGT GGTATGTAGCTGTGTGGTGATGTCGGTGTGTGTCTGTGTGGCGATGTGTG TGTGTGGTGTGTGTGTGATGTATGTGCATGTGTCTGTGTGGGGTGTGTAT CTGTGTGGTGATTTGTGGGTTTGTACCTGTGTGGTGGTGTGTGGTGATTG TGTGTGTGTGTGGTATGTATCTGTGTGGTGATGTGTGGGTGTGTGTGGTG TGTATCTGTGTGGTGCGTGGTGTGTATCTGTGTGGTGATGTATGGGGGTG TGTGTGGTGTGTATCTGTGTGGTGATGTGTGTGTCTGTGTGGTGTGTGGT GATTATGTGTCTGTGGTGTGTATCTGTGTGGTGATGTGTGGGTGTGTGTG GATGGCGTATATTTGTATGGTAATGTGTGGAGATGTGTGTGTGGTGTGTA TCTGTATGGTGATGTGTGTGTGGTGTGTATCTATGTGGTGATGTGTGTGT GTGTGTGGTGTGTATCTATGTGGTGATTGTGTGTGTGTGTGGTCTGTATC TGTGTGATATGTGTGTGTGTTGTGTATCTGTGTGGTGATGTGTGAGTCTG TGTGTGGG	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
GRM4_chr6_34013643_34151087	34073265	C C	CCCCACAC others(727): Show CCCCACACACAGACTCACACATCACCACACAGATACACAACACACACACA TATCACACAGATACAGACCACACACACACACAATCACCACATAGATACAC ACCACACACACACACACATCACCACATAGATACACACCACACACACATCA CCATACAGATACACACCACACACACATCTCCACACATTACCATACAAATA TACGCCATCCACACACATCCACACATCACCACACAGATACACACCACAGA CACATAATCACCACACACCACACAGACACACACATCACCACACAGATACA CACCACACACACCCCCATACATCACCACACAGATACACACCACGCACCAC ACAGATACACACCACACACACCCACACATCACCACACAGATACATACCAC ACACACACACAATCACCACACACCACCACACAGGTACAAACCCACAAATC ACCACACAGATACACACCCCACACAGACACATGCACATACATCACACACA CACCACACACACACATCGCCACACAGACACACACCCACATCACCACACAG CTACATACCACACACACACACCACCACACATCACCACACAGATGCACAAC ACACACCCACACATCACCACACAGACACACACACACACATCATCAGATAC ACACCACATGCACGTCACCACACAGATACCACACACACGTCATCGGATAC ACACCACGCACACGTCACCACACAGATACCACACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp2 HG02155.hp2 HG00140.hp2 HG01081.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0221 a0001c0001t0002g0263 a0001c0003t0003g0206 a0001c0001t0002g0221 a0001c0001t0002g0263 a0001c0003t0003g0206	3	282	0.0106	734	c.737 others(753): Show c.737-11238_737-11237insTGTGTGGTATCTGTGTGGTGACGTGT GCGTGGTGTGTATCCGATGACGTGTGTGTGGTATCTGTGTGGTGACGTGC ATGTGGTGTGTATCTGATGATGTGTGTGTGTGTGTCTGTGTGGTGATGTG TGGGTGTGTGTTGTGCATCTGTGTGGTGATGTGTGGTGGTGTGTGTGTGT GGTATGTAGCTGTGTGGTGATGTGGGTGTGTGTCTGTGTGGCGATGTGTG TGTGTGGTGTGTGTGTGATGTATGTGCATGTGTCTGTGTGGGGTGTGTAT CTGTGTGGTGATTTGTGGGTTTGTACCTGTGTGGTGGTGTGTGGTGATTG TGTGTGTGTGTGGTATGTATCTGTGTGGTGATGTGTGGGTGTGTGTGGTG TGTATCTGTGTGGTGCGTGGTGTGTATCTGTGTGGTGATGTATGGGGGTG TGTGTGGTGTGTATCTGTGTGGTGATGTGTGTGTCTGTGTGGTGTGTGGT GATTATGTGTCTGTGGTGTGTATCTGTGTGGTGATGTGTGGATGTGTGTG GATGGCGTATATTTGTATGGTAATGTGTGGAGATGTGTGTGTGGTGTGTA TCTGTATGGTGATGTGTGTGTGGTGTGTATCTATGTGGTGATGTGTGTGT GTGTGTGGTGTGTATCTATGTGGTGATTGTGTGTGTGTGTGGTCTGTATC TGTGTGATATGTGTGTGTGTTGTGTATCTGTGTGGTGATGTGTGAGTCTG TGTGTGGG	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
IFT140_chr16_1505427_1617072	1599452	G G	GCCGTCCG others(727): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGG GGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGG GTCAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGGGGGCCAGCCCCCCTGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0026 a0002c0003t0003g0026	1	334	0.0030	734	c.369 others(751): Show c.369+2917_369+2918insGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAG GGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACCCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(727): Show GCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCC ACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTA AAGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTGGGGGCCGCC ATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTGAGT GAGAGGGTGGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTG CCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTGA GTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAGAGGGTAGGGGC CACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCACCAGGACCCCT GAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGAGGGTGGGGGCCA CCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGAGGGTAGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTAGGGGC TGCCATCAGGACCCCTGAGAGAGAGGGTAGGGGCCACCATCAGGACCCCT GAGTGAGAGGGTAGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCA GCATCAGGACCCCTGAGTGAGAGGGTGGGGGCCAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG03209.hp2 HG02257.hp1 HG02630.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0002 a0001c0018t0002 a0001c0001t0002 a0001c0018t0002	a0001c0001t0002g0106 a0001c0018t0002g0097 a0001c0018t0002g0098 a0001c0001t0002g0106 a0001c0018t0002g0097 a0001c0018t0002g0098	3	330	0.0091	734	c.430 others(749): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCT CACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGA TGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCT CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCT GATGGTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGCTGGCTCCCATC CCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGA TGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGATGGCAGCCCCTACCCT CTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGCCCA GCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTGGCCCCCACC CTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTC CTGATGGCGGCCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCAC CCCTTTACTCAGGGGTCCTGATGCTGGCTCCCATCCCCTCAGGGGTCCTG GTGGTGGCCCCCACCCCCTCACTCAGGGGTCCTGATGGCGGCCCCCACCC CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCTTTACTCAGGGGTCCT GATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF3B_chr20_32272651_32340011	32323070	T T	TTATATAC others(727): Show TTATATACATATATTTATATATATATTTATATATATTTATATACATATAT TTATATATATATTTATATATATATTTATATACATATATTTATATATATAT TTATATATATATTTATATACATATATTTATATATATATTTATATATATAT TTATATACATATATTTATATATATATTTATATATATATTTATATACATAT ATTTATACATATATTTATATATATTTATATACATATATTTATACATATAT TTATATATATATTTATATACATATATTTATATATATATTTATATATATAT TTATATACATATATTTATATATATATTTATATACATATATTTATATATTT ATATATATTTATATATATTCATATTTATATTTATATATATTTATATATAT TCATATTTATATTTATATATATTTATATATATATTTATATTTATATATAT ATTTATATTTAATTATATTTATATATATTTATATATATATTTATATTTGT ATATATTTATATATATGTATATTTATATATATTTATATATTTATATATTT ATATTTATATATATCTATATATTTATATATATTTATATATTTATATTCAT ATATATTTATATATTTATATATATTTATATATTTATATTTATATATATTC ATATTTATATATATTTATATATTTATATTTATATATATTTATATTTATAT ATTTATATATTTATATTTATATATATTTATATTTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0080 a0001c0003t0010g0080	1	242	0.0041	734	c.174 others(753): Show c.1749-3695_1749-3694insCATATATTTATATATATATTTATATA TATTTATATACATATATTTATATATATATTTATATATATATTTATATACA TATATTTATATATATATTTATATATATATTTATATACATATATTTATATA TATATTTATATATATATTTATATACATATATTTATATATATATTTATATA TATATTTATATACATATATTTATACATATATTTATATATATTTATATACA TATATTTATACATATATTTATATATATATTTATATACATATATTTATATA TATATTTATATATATATTTATATACATATATTTATATATATATTTATATA CATATATTTATATATTTATATATATTTATATATATTCATATTTATATTTA TATATATTTATATATATTCATATTTATATTTATATATATTTATATATATA TTTATATTTATATATATATTTATATTTAATTATATTTATATATATTTATA TATATATTTATATTTGTATATATTTATATATATGTATATTTATATATATT TATATATTTATATATTTATATTTATATATATCTATATATTTATATATATT TATATATTTATATTCATATATATTTATATATTTATATATATTTATATATT TATATTTATATATATTCATATTTATATATATTTATATATTTATATTTATA TATATTTATATTTATATATTTATATATTTATATTTATATATATTTATATT TATATATA	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATA others(727): Show TATATATATCCATATATATATATCCATATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATTTCCATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATCCATATATATATATCCA TATATATATAATCCATATATATATATATCCATATATATATATCCATATAT ATATATCCATATATATATATCCATATATATATATATCCATATATATATCC ATATATATATCCATATATATATCCATATATATATATCCATATATATATAT CCATATATATAATATCCATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATCCATA TATATATATATCCATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0218 a0002c0002t0002g0218	1	284	0.0035	734	c.126 others(751): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATGGATATTATA TATATGGATATATATATATGGATATATATATATGGATATATATATGGATA TATATATGGATATATATATGGATATATATATATATGGATATATATATATG GATATATATATATGGATATATATATATGGATATATATATATATGGATTAT ATATATATGGATATATATATATGGATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATATATGGAT ATATATATATGGATATATATATATGGAAATATATATGGATATATATATAT ATGGATATATATATGGATATATATATATATATGGATATATATATATGGAT ATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
MAEA_chr4_1284891_1345137	1317117	G G	GCCCCACA others(727): Show GCCCCACACTCTAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCA CACTCACCTGCAGGCCCACCCGGCCCCACACTCTAGACTCACCCCCAGGC CCACCCCGGCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGCCCCA CACTCTAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCA CCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCAC CCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACT CCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCG CAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCA GCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCA GGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGC CCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAG ACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCCCACCCCAGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0319 a0001c0006t0001g0319	1	388	0.0026	734	c.456 others(751): Show c.456+1517_456+1518insCCCCACACTCTAGACTCACCCCCAGGCC CACCCCGGCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGCCCCAC ACTCTAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCAC CTGCAGGCCCACCCGGCCCCACACTCTAGACTCACCCCCAGGCCCACCCC GGCCCCCACACTCCACACTCACCTGCAGGCCCACCCCAGCCCCCACACTC CAGACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAG GCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCC CCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGA CTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGC CCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCC CACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACT CACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCC ACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCA CACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCA CCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCAC CCCAGC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8			chr4	TogoVar
MAEA_chr4_1284891_1345137	1317175	T T	TGCAGGCC others(727): Show TGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCA GCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCA GGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGC CCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAG ACTCACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCC ACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCA CCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCACAC TCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCC GCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCC AGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTC CAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGC AGGCTCACCCCAGCCCCCACACTCCAGACTCACCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	388	0.0026	734	c.456 others(751): Show c.456+1587_456+1588insGGTCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGAC TCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCC ACACTCCAGACTCACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCA CCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACAC TCCAGACTCACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCC GCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCG GTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCA GACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAG GCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCC CCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGA CTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGC CCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061789	A A	AATTATAT others(727): Show AATTATATAATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAAATTATATAT AATATAGAATATAATTATATAATATATAATTATATTCTATATAGAATATA ATTATATAATATATAATTATATTCTATAGAATATAATTATATAATATATA ATTATATTCTATAGAATATAATTATATAATATATAATTATATTCTATATT ATATAATTATAATATAATTATATAATATAATTATATTATATATAATTATA TTAAATATATTATATAATATATAATTATATTATATATTATATAATATATA ATTATAATTATATATTATATAATATATAATTATATTATATATTATATAAT ATATAATTATATTATATAATATATAATATATAATATAATTATATATTATA TAATATATAATTATATTATATATTATAATACATTTAATATAATTATATTA TAGATTATAATCTATAATATAATTATATTAATAGTATTATAATATATAAT ATATTATATATAATTATATTATAACATATTATATATAATTATATTATAGA TCATAATCTATAATATAATTATATATAATATGTTATAATATATAATTATA TTCTATATATAATTATATATAATATAATTATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	288	0.0035	734	c.-31 others(745): Show c.-3185_-3184insGAATATAATTATATTATATATAATTATATATAGA ATATAATTATATATTATAACATATTATATATAATTATATTATAGATTATG ATCTATAATATAATTATATATAATATGTTATAATATAATTATATATAATA TATTATATATTATAATACTATTAATATAATTATATTATAGATTATAATCT ATAATATAATTATATTAAATGTATTATAATATATAATATAATTATATATT ATATAATATATAATTATATTATATATTATATATTATATAATATAATTATA TATTATATAATATATAATATAATTATATATTATATAATATATAATTATAA TTATATATTATATAATATATAATATAATTATATATTATATAATATATTTA ATATAATTATATATAATATAATTATATTATATAATTATATTATAATTATA TAATATAGAATATAATTATATATTATATAATTATATTCTATAGAATATAA TTATATATTATATAATTATATTCTATAGAATATAATTATATATTATATAA TTATATTCTATATAGAATATAATTATATATTATATAATTATATTCTATAT TATATATAATTTATATATTATATAATTATATTATATATAAATTATATATT ATATAATTATATTATATATAAATTATATATTATATAATTATATTATATAT AAATTATATATTATATAATTATATTATATATAAATTATATATTATATAAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3114		chr19	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(727): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGT GATAGTGGTGGTGGGGGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGG TTATGGTGGTGGTGGTGATGGTGTTGGTAGAGGTGATGGTGATAGAGGTG ATGGTGATGGTGGTGGTGGGGGTGATGGTGACAGGAGGTGGTGGCGATGA TGGAAATGATGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGTAGTC GAGGTGATGGTGGTAGTGATGGTGGTGGTGGTGGAGGTGATGGTAGTGGA GGTGATGGTGGTGGAGATGATCATGATGGTGGTGGTGGTGATGGTGGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAATG GTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTGATGGT GGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGCAGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAGAG GTGATGGTAATGGTGGAGGTGATGGTGGTGATGATGGTGGTAGTGAAAGT GATGGTGGTGATGGCTGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02818.hp1 HG01891.hp1 HG02109.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0096 a0001c0001t0001g0194 a0001c0001t0001g0195	3	274	0.0110	734	c.480 others(753): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAGCCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCATCACCTTCACTACCACC ACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACCACCAT CACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCTCCACC ACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACTACCAC CATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTACCACCA TCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACCACCAC CATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCACCACCA CCACCATAACCTCTACCATCACCACTACCATCACCATCTCCACCCCCACC ACCACTATCACCACCTCCACCCCCACCATCACCACCACCACCATAACCTC TACCACCAGCACCTCCACCACCACCATCACCATCACCACCTCCATCCCCA CCACCACCCCCCACCACCATCACCACCACCATCACCAGCACCACCACCAC CATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(727): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGT GATAGTGGTGGTGGGGGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGG TTATGGTGGTGGTGGTGATGGTGTTGGTAGAGGTGATGGTGATAGAGGTG ATGGTGATGGTGGTGGTGGGGGTGATGGTGACAGGAGGTGGTGGCGATGA TGGAAATGATGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGTAGTC GAGGTGATGGTGGTAGTGATGGTGGTGGTGGTGGAGGTGATGGTAGTGGA GGTGATGGTGGTGGAGATGATCATGATGGTGGTGGTGGTGATGGTGGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAATG GTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTGATGGT GGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGCAGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAGAG GTGATGGTAATGGTGGAGGTGATGGTGGTGATGATGGTGGTAGTGAAAGT GATGGTGGTGATGGTTGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00558.hp2 others(105): Show HG00140.hp1 HG00408.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp2 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG06807.hp2 NA18522.hp2 NA18940.hp2 NA18942.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp2 NA19000.hp2 NA19012.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19079.hp1 NA19084.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(104): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0150 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0250 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0084 a0001c0001t0002g0200 a0002c0002t0001g0273	108	274	0.3942	734	c.480 others(753): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCATCACCTTCACTACCACC ACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACCACCAT CACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCTCCACC ACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACTACCAC CATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTACCACCA TCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACCACCAC CATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCACCACCA CCACCATAACCTCTACCATCACCACTACCATCACCATCTCCACCCCCACC ACCACTATCACCACCTCCACCCCCACCATCACCACCACCACCATAACCTC TACCACCAGCACCTCCACCACCACCATCACCATCACCACCTCCATCCCCA CCACCACCCCCCACCACCATCACCACCACCATCACCAGCACCACCACCAC CATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(727): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGT GATAGTGGTGGTGGGGGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGG TTATGGTGGTGGTGGTGATGGTGTTGGTAGAGGTGATGGTGATAGAGGTG ATGGTGATGGTGGTGGTGGGGGTGATGGTGACAGGAGGTGGTGGCGATGA TGGAAATGATGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGTAGTC GAGGTGATGGTGGTAGTGATGGTGGTGGTGGTGGAGGTGATGGTAGTGGA GGTGATGGTGGTGGAGATGATCATGATGGTGGTGGTGGTGATGGTGGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAATG GTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTGATGGT GGAGGGTGTGGTGGTAGTGAAGGTGGTGGTGGTGGTGGTGATGGCAGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAGAG GTGATGGTAATGGTGGAGGTGATGGTGGTGATGATGGTGGTAGTGAAAGT GATGGTGGTGATGGTTGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG02165.hp2 others(2): Show HG00408.hp1 HG00438.hp1 HG02165.hp2 HG03927.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 others(2): Show a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246	5	274	0.0183	734	c.480 others(753): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCACCACCTTCACTACCACC ACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACCACCAT CACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCTCCACC ACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACTACCAC CATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTACCACCA TCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACCACCAC CATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCACCACCA CCACCATAACCTCTACCATCACCACTACCATCACCATCTCCACCCCCACC ACCACTATCACCACCTCCACCCCCACCATCACCACCACCACCATAACCTC TACCACCAGCACCTCCACCACCACCATCACCATCACCACCTCCATCCCCA CCACCACCCCCCACCACCATCACCACCACCATCACCAGCACCACCACCAC CATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(727): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGT GATAGTGGTGGTGGGGGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGG TTATGGTGGTGGTGGTGATGGTGTTGGTAGAGGTGATGGTGATAGAGGTG ATGGTGATGGTGGTGGTGGGGGTGATGGTGACAGGAGGTGGTGGCGATGA TGGAAATGATGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGTAGTC GAGGTGATGGTGGTAGTGATGGTGGTGGTGGTGGAGGTGATGGTAGTGGA GGTGATGGTGGTGGAGATGATCATGATGGTGGTGGTGGTGATGGTGGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAATG GTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGTTGATGGT GGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGCAGAGG GTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAGAG GTGATGGTAATGGTGGAGGTGATGGTGGTGATGATGGTGGTAGTGAAAGT GATGGTGGTGATGGTTGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02132.hp1 HG02559.hp1 others(11): Show HG00621.hp1 HG02132.hp1 HG02559.hp1 HG02572.hp1 HG02896.hp1 HG02970.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 NA18957.hp1 NA18983.hp2 NA19007.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0169 a0001c0001t0001g0170 others(11): Show a0001c0001t0001g0013 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0216	14	274	0.0511	734	c.480 others(753): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCATCACCTTCACTACCACC ACACCCTCCACCATCAACACCATCACTTTCACTACCACCATCACCACCAT CACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCTCCACC ACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACTACCAC CATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTACCACCA TCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACCACCAC CATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCACCACCA CCACCATAACCTCTACCATCACCACTACCATCACCATCTCCACCCCCACC ACCACTATCACCACCTCCACCCCCACCATCACCACCACCACCATAACCTC TACCACCAGCACCTCCACCACCACCATCACCATCACCACCTCCATCCCCA CCACCACCCCCCACCACCATCACCACCACCATCACCAGCACCACCACCAC CATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(727): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGG GAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGGAGGGGAG GGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGAGGG GGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGAGGGGG GAGGGGGAGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGG GGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGG GAGGGGGAGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGG GGGAGGGGGAGGGAGGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	272	0.0037	734	c.250 others(749): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCTCC CCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCC CCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCC CCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCC CTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCC TTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCC CTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTC CCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCC CCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(727): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATATATATT TTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATA TTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATA TATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATAT AAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAA TAAGATTTTATATATATATAAGATTTTATATATATATAAAATAAGATTTT ATATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATC TTATTTTATATATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	330	0.0030	734	c.-5+ others(749): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATCTTATTTTATATA TATATAAAATCTTATTTTATATATATATAAAATCTTATATATATATAAAA TCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTT ATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATA AAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATC TTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATA TAAAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAA TCTTATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATA TATAAAATATATATAAAATAAGATTTTATATATATAAAATAAGATTTTAT ATATATAAAATATATATAAAGTAAGATTTTATATATATATAAAATATATA TAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTTATATATAT ATAAAATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATAAAAAATATA TATCAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAA AATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MUSK_chr9_110663791_110811558	110690423	A A	AGTATATA others(727): Show AGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATATATAAATATATATATTTCAATATA AGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATA TATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTA TGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATATA TTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATATATA AAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAA TATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATA AGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATATATATA TTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATATA TAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTTC AATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAAA AATATATATATTTAAATATAAGTATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	326	0.0031	734	c.358 others(751): Show c.358+3155_358+3156insGTATATATAAATATATATATTTAAATAT AAGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATAT ATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATAT AAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAAAAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14			chr9	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGAT others(727): Show GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGC GATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGAT GGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGA TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGG TGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGAT GGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	384	0.0026	734	c.160 others(751): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACC ATCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCACCA CCACCATCACCACCACCATCACCACCACCATCACCACCACCACCATCACC ACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCA TCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCACCATCACCACCACCACCACCAGCAGCACTACCACTAC CACCACCATCATGGTCACCACCATCATTACCACTACCACCACGACTACCA CCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCACCAC CACCATCGCCGCCACCACCACCACCACCACCATCACCACCATCACCACCA TCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NCAPG2_chr7_158626169_158709804	158667532	C C	CTACTGGG others(727): Show CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGC CTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCC TCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTA CTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTT ACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCG CCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGG TCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCC ACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCT CCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCC TCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTAC TGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTT ACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCG CCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTG GGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTA CCCACTACTGGGTCCCTCCGCCCGCCTTACCCACT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	378	0.0027	734	c.148 others(753): Show c.1480-2783_1480-2782insAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCA GTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGG AGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAG GCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAG TGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCA GTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGA GGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGG ACCCAGTA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136528443	G G	GGGGGGAT others(727): Show GGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGG ACAGTGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGTGGGCAGG GACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCG ATGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGG CAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACA GTGGGGCGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAG GGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGG GGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGA GCAGGGACAGTGCGGGGGATGGGCAGGGACAGTGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0184 a0001c0003t0001g0205 a0001c0003t0001g0184 a0001c0003t0001g0205	2	324	0.0062	734	c.141 others(751): Show c.141-4465_141-4464insTCACTGTCCCTGCCCATCCCCCGCACTG TCCCTGCTCATCCCCAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTG CCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATC CCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCC ACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTC CCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATC GCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCCCCCTCACT GTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCC TGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCAT CCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCC CACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTC CCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATC CCCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCC CCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTC CCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCA TCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NXN_chr17_794310_984776	841603	C C	CTGACCAC others(727): Show CTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCG CATCTCATGCCGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACC CGCGAGCAGGTCCACCCTGACCACGGAGCATCTCACACGGGCGAGCAGGT CCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACC ACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCTC ATGCCGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCACACGGGCGAG CAGGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCT GACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCTGACCACGGAGC ATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCTCATGCCGG CGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCC CCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGG CGCATCTCATGCCGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCACA TGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAG GTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0074 a0001c0001t0005g0074	1	242	0.0041	734	c.361 others(753): Show c.361-15526_361-15525insAGGGGGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGT CGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCT GCTCGCCCATGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCGGCA TGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGG ACCTGCTCGCCGGCATGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCC GTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCCTGTGGGTGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGG GGGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCT CGCCGGCATGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAG ATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGG TCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGTGGAC CTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCGG CATGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTC CGTGGTCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PDZK1IP1_chr1_47178582_47195036	47184459	G G	GCTCCATC others(727): Show GCTCCATCCCCCACTAAACCCATCTCCCAACAAGCTCCATCCCCCACCAA GCTCCATCCCCCACTAAACCCATTCCCACTGAGTCCATCACCCACTGAGT CCATCCCCCACTGAGTCCATCCTCCACTGAACCCATGCCCCACTGAACCC ATCCCCCACTGAACCCATCCCCCACTGAACCCATCCCCCACTGAGCCCAT TCCCCACTGAGTCCATCCTCCACTGAGTCCATCCTCCACTGAACCCATGC CCCACTGAACCCATCCCCCACTGAACCATCCCCCACTGAACCTATCCCCC ACTGAGCCCATTCCCCACTGAGTCCATCCCCCACTGAGTCCATCCCCCAC TGAGTCCATCCCTCACTGAGTCCATCCCTTGCTGAGCCCATACCCGCTAA GTCCATCCCCCGCTGAGTCCATCCCCCGCTGAGTCCATCCCCTGCTGAGT CCATCCCCCACTGAGCTCCATCCCCCACTAAGCTCCATCCCCCACTAAAC CCATCTCCCAACAAGCTCCATCCCCCACCAAGCTCCGTCCGCCACCAAGC TCCATCCCCCACTAAACCCATCCCCCACTGAGCTCCATCCTCCACTGAAC CCATCCCCACTGAGTCCATCTCCCACTGAGTCCAACCCCACTGAACCCAT CCCCCACTGAACCCATCCCCCACTGAACCCATCCCCCACTGAACCCATCC CTCACTGAACCCATCCTCCACTGAATCCATCCCCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG01106.hp2 others(41): Show HG00597.hp1 HG00609.hp2 HG01106.hp2 HG01109.hp2 HG02040.hp2 HG02071.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02738.hp2 HG02895.hp2 HG03239.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG04184.hp1 NA18612.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18980.hp2 NA18990.hp1 NA18991.hp2 NA18998.hp2 NA19004.hp2 NA19010.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0025 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0002t0001g0049	44	426	0.1033	734	c.273 others(749): Show c.273-417_273-416insGGGGGATGGATTCAGTGGAGGATGGGTTCA GTGAGGGATGGGTTCAGTGGGGGATGGGTTCAGTGGGGGATGGGTTCAGT GGGGGATGGGTTCAGTGGGGTTGGACTCAGTGGGAGATGGACTCAGTGGG GATGGGTTCAGTGGAGGATGGAGCTCAGTGGGGGATGGGTTTAGTGGGGG ATGGAGCTTGGTGGCGGACGGAGCTTGGTGGGGGATGGAGCTTGTTGGGA GATGGGTTTAGTGGGGGATGGAGCTTAGTGGGGGATGGAGCTCAGTGGGG GATGGACTCAGCAGGGGATGGACTCAGCGGGGGATGGACTCAGCGGGGGA TGGACTTAGCGGGTATGGGCTCAGCAAGGGATGGACTCAGTGAGGGATGG ACTCAGTGGGGGATGGACTCAGTGGGGGATGGACTCAGTGGGGAATGGGC TCAGTGGGGGATAGGTTCAGTGGGGGATGGTTCAGTGGGGGATGGGTTCA GTGGGGCATGGGTTCAGTGGAGGATGGACTCAGTGGAGGATGGACTCAGT GGGGAATGGGCTCAGTGGGGGATGGGTTCAGTGGGGGATGGGTTCAGTGG GGGATGGGTTCAGTGGGGCATGGGTTCAGTGGAGGATGGACTCAGTGGGG GATGGACTCAGTGGGTGATGGACTCAGTGGGAATGGGTTTAGTGGGGGAT GGAGCTTGGTGGGGGATGGAGCTTGTTGGGAGATGGGTTTAGTGGGGGAT GGAG	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding	3/3			chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47184459	G G	GCTCCATC others(727): Show GCTCCATCCCCCACTAAACCCATCTCCCAACAAGCTCCATCCCCCACCAA GCTCCATCCCCCACTAAACCCATTCCCACTGAGTCCATCACCCACTGAGT CCATCCCCCACTGAGTCCATCCTCCACTGAACCCATGCCCCACTGAACCC ATCCCCCACTGAACCCATCCCCCACTGAACCCATCCCCCACTGAGCCCAT TCCCCACTGAGTCCATCCTCCACTGAGTCCATCCTCCACTGAACCCATGC CCCACTGAACCCATCCCCCACTGAACCATCCCCCACTGAACCTATCCCCC ACTGAGCCCATTCCCCACTGAGTCCATCCCCCACTGAGTCCATCCCCCAC TGAGTCCATCCCTCACTGAGTCCATCCCTTGCTGAGCCCATACCCGCTAA GTCCATCCCCCGCTGAGTCCATCCCCTGCTGAGTCCATCCCCTGCTGAGT CCATCCCCCACTGAGCTCCATCCCCCACTAAGCTCCATCCCCCACTAAAC CCATCTCCCAACAAGCTCCATCCCCCACCAAGCTCCGTCCGCCACCAAGC TCCATCCCCCACTAAACCCATCCCCCACTGAGCTCCATCCTCCACTGAAC CCATCCCCACTGAGTCCATCTCCCACTGAGTCCAACCCCACTGAACCCAT CCCCCACTGAACCCATCCCCCACTGAACCCATCCCCCACTGAACCCATCC CTCACTGAACCCATCCTCCACTGAATCCATCCCCC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	426	0.0024	734	c.273 others(749): Show c.273-417_273-416insGGGGGATGGATTCAGTGGAGGATGGGTTCA GTGAGGGATGGGTTCAGTGGGGGATGGGTTCAGTGGGGGATGGGTTCAGT GGGGGATGGGTTCAGTGGGGTTGGACTCAGTGGGAGATGGACTCAGTGGG GATGGGTTCAGTGGAGGATGGAGCTCAGTGGGGGATGGGTTTAGTGGGGG ATGGAGCTTGGTGGCGGACGGAGCTTGGTGGGGGATGGAGCTTGTTGGGA GATGGGTTTAGTGGGGGATGGAGCTTAGTGGGGGATGGAGCTCAGTGGGG GATGGACTCAGCAGGGGATGGACTCAGCAGGGGATGGACTCAGCGGGGGA TGGACTTAGCGGGTATGGGCTCAGCAAGGGATGGACTCAGTGAGGGATGG ACTCAGTGGGGGATGGACTCAGTGGGGGATGGACTCAGTGGGGAATGGGC TCAGTGGGGGATAGGTTCAGTGGGGGATGGTTCAGTGGGGGATGGGTTCA GTGGGGCATGGGTTCAGTGGAGGATGGACTCAGTGGAGGATGGACTCAGT GGGGAATGGGCTCAGTGGGGGATGGGTTCAGTGGGGGATGGGTTCAGTGG GGGATGGGTTCAGTGGGGCATGGGTTCAGTGGAGGATGGACTCAGTGGGG GATGGACTCAGTGGGTGATGGACTCAGTGGGAATGGGTTTAGTGGGGGAT GGAGCTTGGTGGGGGATGGAGCTTGTTGGGAGATGGGTTTAGTGGGGGAT GGAG	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding	3/3			chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47184459	G G	GCTCCATC others(727): Show GCTCCATCCCCCCACTAAACCCATCTCCCAACAAGCTCCATCCCCCACCA AGCTCCATCCCCCACTAAACCCATTCCCACTGAGTCCATCACCCACTGAG TCCATCCCCCACTGAGTCCATCCTCCACTGAACCCATGCCCCACTGAACC CATCCCCCACTGAACCCATCCCCCACTGAACCCATCCCCCACTGAGCCCA TTCCCCACTGAGTCCATCCTCCACTGAGTCCATCCTCCACTGAACCCATG CCCCACTGAACCCATCCCCCACTGAACCATCCCCCACTGAACCTATCCCC CACTGAGCCCATTCCCCACTGAGTCCATCCCCCACTGAGTCCATCCCCCA CTGAGTCCATCCCTCACTGAGTCCATCCCTTGCTGAGCCCATACCCGCTA AGTCCATCCCCGCTGAGTCCATCCCCGCTGAGTCCATCCCCTGCTGAGTC CATCCCCCACTGAGCTCCATCCCCCACTAAGCTCCATCCCCCCACTAAAC CCATCTCCCAACAAGCTCCATCCCCCACCAAGCTCCGTCCGCCACCAAGC TCCATCCCCCACTAAACCCATCCCCCACTGAGCTCCATCCTCCACTGAAC CCATCCCCACTGAGTCCATCTCCCACTGAGTCCAACCCCACTGAACCCAT CCCCCACTGAACCCATCCCCCACTGAACCATCCCCCACTGAACCCATCCC TCACTGAACCCATCCTCCACTGAATCCATCCCCCC	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	426	0.0024	734	c.273 others(749): Show c.273-417_273-416insGGGGGGATGGATTCAGTGGAGGATGGGTTC AGTGAGGGATGGGTTCAGTGGGGGATGGTTCAGTGGGGGATGGGTTCAGT GGGGGATGGGTTCAGTGGGGTTGGACTCAGTGGGAGATGGACTCAGTGGG GATGGGTTCAGTGGAGGATGGAGCTCAGTGGGGGATGGGTTTAGTGGGGG ATGGAGCTTGGTGGCGGACGGAGCTTGGTGGGGGATGGAGCTTGTTGGGA GATGGGTTTAGTGGGGGGATGGAGCTTAGTGGGGGATGGAGCTCAGTGGG GGATGGACTCAGCAGGGGATGGACTCAGCGGGGATGGACTCAGCGGGGAT GGACTTAGCGGGTATGGGCTCAGCAAGGGATGGACTCAGTGAGGGATGGA CTCAGTGGGGGATGGACTCAGTGGGGGATGGACTCAGTGGGGAATGGGCT CAGTGGGGGATAGGTTCAGTGGGGGATGGTTCAGTGGGGGATGGGTTCAG TGGGGCATGGGTTCAGTGGAGGATGGACTCAGTGGAGGATGGACTCAGTG GGGAATGGGCTCAGTGGGGGATGGGTTCAGTGGGGGATGGGTTCAGTGGG GGATGGGTTCAGTGGGGCATGGGTTCAGTGGAGGATGGACTCAGTGGGGG ATGGACTCAGTGGGTGATGGACTCAGTGGGAATGGGTTTAGTGGGGGATG GAGCTTGGTGGGGGATGGAGCTTGTTGGGAGATGGGTTTAGTGGGGGGAT GGAG	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding	3/3			chr1	TogoVar
PJA2_chr5_109329722_109414974	109354358	T T	TATGATAT others(727): Show TATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGAT ATCTATAGATTAGATATCTATGCTATCTAGAGATATCTATAGATTAGATA TCTGTGATATCTAGAGATATCTATAGATTGGATATCTATATCTAGAGATA TCTATAGATTGGATATCTATGATATCTAGAGATATCTATAGATTAGATAT CTATGATATCTAGAGATATCTATAGATTAGATGTCTATGATATCTAGAGA TATCTATAGATTAGATAGATATCTAGAGATATCTATAGATTAGATATCTA TGATATCTAGAGATATCTATAGATTAGATATCTATATCTAGAGATGTCTA TAGATTAGATATCTATGATATCTAGAGATGTCTATAGATTAGATATCTAT GATGTCTAGAGATTTCTATAGATTAGATATCTATGATGTCTAGAGATTTC TATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATATCT ATGATATCTAGAGATATCTATAGATTAGATATCGATATCTAGAGATATCT ATAGATTAGATATCTATATCTAGAGATATCTATAGATTAGATATCTATGA TATCTCGAGATATCTATAGATTAGATATCTATGATATCTCGAGATATCTA TAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTAT GATATCTAGAGATATCTATAGATTAGATATCTATG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0078 a0003c0003t0002g0078	1	346	0.0029	734	c.176 others(753): Show c.1764+1556_1764+1557insCATAGATATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATA TCTAATCTATAGATATCTCGAGATATCATAGATATCTAATCTATAGATAT CTCGAGATATCATAGATATCTAATCTATAGATATCTCTAGATATAGATAT CTAATCTATAGATATCTCTAGATATCGATATCTAATCTATAGATATCTCT AGATATCATAGATATCTAATCTATAGATATCTCTAGACATCATAGATATC TAATCTATAGAAATCTCTAGACATCATAGATATCTAATCTATAGAAATCT CTAGACATCATAGATATCTAATCTATAGACATCTCTAGATATCATAGATA TCTAATCTATAGACATCTCTAGATATAGATATCTAATCTATAGATATCTC TAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCTATCTAAT CTATAGATATCTCTAGATATCATAGACATCTAATCTATAGATATCTCTAG ATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCCA ATCTATAGATATCTCTAGATATAGATATCCAATCTATAGATATCTCTAGA TATCACAGATATCTAATCTATAGATATCTCTAGATAGCATAGATATCTAA TCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTA GATATCAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(727): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCCTCCCCTGCACACCC CACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAGCC TCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCT GCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCC CACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACC TCCCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCC TGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACAC CCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCC CTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCT CCCCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCA CACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCA TCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTC CCCGCACACCCCCACCCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCA CACCCCCATCTCCTCCCCTGCACACCCCACAACCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	210	0.0048	734	c.147 others(751): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCCTCCCCTG CACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCC CACAGCCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCC CTCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTG CACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCC CACAACCTCCCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCACAAC CTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCC TGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACC CCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCC ACCCCCTCCCCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTC CCCTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCAC ACCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCA CCCCCTCCCCGCACACCCCCACCCCCCTCCCCTGCACACCCCCACCCCCT CCCCGCACACCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCA CACCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(727): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCCTCCCCTGCACACCCCACAACC TCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCT GCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACC CCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCC TCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCTC CCCACACACTCCCACCCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCA CACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCA TCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTC CCCGCACACCCCCACCCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCA CACCCCCATCTCCTCCCCTGCACACCCCACAACCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0015 a0001c0002t0022g0015	1	210	0.0048	734	c.147 others(751): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCC TCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCCTCCCCTGCACACCC CACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACC TCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCT GCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCC CACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCA CCCCCTCCCCACACACTCCCACCCCCCTCCCCGCACACCCCCATCCCCTC CCCTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCAC ACCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCA CCCCCTCCCCGCACACCCCCACCCCCCTCCCCTGCACACCCCCACCCCCT CCCCGCACACCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCA CACCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(727): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTG CATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCC CCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCT CCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCTCC CCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACA CCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCATC TCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCCACCCCCTCC CCGCACACCCCCACCCCCCTCCCCTGCACACCCCCACCCCCCTCCCCGCA CACCCCCATCTCCTCCCCTGCACACCCCACAACCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0029 a0001c0011t0029	a0001c0011t0029g0136 a0001c0011t0029g0136	1	210	0.0048	734	c.147 others(751): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCC TCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCAC CCCCTCCCCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCC CTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACAC CCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCCAC CCCCTCCCCGCACACCCCCACCCCCCTCCCCTGCACACCCCCACCCCCCT CCCCGCACACCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCA CACCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(727): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTG CATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCC CCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCT CCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCTCC CCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACA CCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCCACACCCCCAT CTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCCACCCCCTC CCCGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCCCCTCCCCGCA CACCCCCATCTCCTCCCCTGCACACCCCACAACCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0017 a0017	a0017c0030 a0017c0030	a0017c0030t0039 a0017c0030t0039	a0017c0030t0039g0140 a0017c0030t0039g0140	1	210	0.0048	734	c.147 others(751): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCC TCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCAC CCCCTCCCCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCC CTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCCACA CCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCCA CCCCCTCCCCGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCCCCT CCCCGCACACCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCA CACCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCTGCA others(727): Show CCCCTGCACACCCCCACCCCCTCCCCGCACACCCCACAACCTCCCCCTGC ACACCCCACCCCCCTCCCCTGCACACCCCACAACCTCCCCCTGCACACCC CACCCCCTCCCCTGCACACCCCACAACCTCCCCCTGCATACCCCACAACC TCCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCCCCTCTCCCCTGC ACACCCCCACCCACTCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC CACCCCCTCCCCACACACGCACACCCCACCCCCTCCCCGCACACCCCCAC CCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACACCCCACCCCCTCCC CTGCACACCCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACA CCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCACACACCCCCACC CCCTCCCCTGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCC CTGCACACCCCACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACA CCCCCACCCCCTCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACC CACTCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCC CACACACGCACACCCCACCCCCTCCCCGCACACCCCCACCCCCTCCCCGC ACACCCCATCCCCTCCCCTGCACACCCCACCCCCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0019 a0010c0014t0019	a0010c0014t0019g0205 a0010c0014t0019g0205	1	210	0.0048	734	c.147 others(751): Show c.1477+391_1477+392insTGCACACCCCCACCCCCTCCCCGCACAC CCCACAACCTCCCCCTGCACACCCCACCCCCCTCCCCTGCACACCCCACA ACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCC CCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCAC ACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACC CCCTCCCCTGCACACCCCCACCCCCTCCCCACACACGCACACCCCACCCC CTCCCCGCACACCCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTG CACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCC CATCCCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCC TCCCCACACACCCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTG CACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTGCATACCC CACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCCCCTCT CCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCTCCCCTGC ACACCCCCACCCCCTCCCCACACACGCACACCCCACCCCCTCCCCGCACA CCCCCACCCCCTCCCCGCACACCCCATCCCCTCCCCTGCACACCCCACCC CCTCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCTGCA others(727): Show CCCCTGCACACCCCCACCCCCTCCCCGCACACCCCACAACCTCCCCCTGC ACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTGCACACCCC ACCCCCTCCCCTGCACACCCCACAACCTCCCCCTGCATACCCCACAACCT CCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCCCCTCTCCCCTGCA CACCCCCACCCACTCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCC ACCCCCTCCCCACACACGCACACCCCACCCCCTCCCCGCACACCCCCACC CCCTCCCCGCACACCCCCATCCCCTCCCCTGCACACCCCACCCCCTCCCC TGCACACCCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACAC CCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCACCC CCTCCCCTGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCC TGCACACCCCACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACAC CCCCACCCCCTCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCC ACTCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCC ACACACGCACACCCCACCCCCTCCCCGCACACCCCCACCCCCTCCCCGCA CACCCCCATCCCCTCCCCTGCACACCCCACCCCCT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0057 a0010c0014t0057	a0010c0014t0057g0197 a0010c0014t0057g0197	1	210	0.0048	734	c.147 others(751): Show c.1477+391_1477+392insTGCACACCCCCACCCCCTCCCCGCACAC CCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAA CCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCC CTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACA CCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCC CCTCCCCTGCACACCCCCACCCCCTCCCCACACACGCACACCCCACCCCC TCCCCGCACACCCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGC ACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCC ATCCCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCT CCCCGCACACCCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTGC ACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTGCATACCCC ACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCCCCTCTC CCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCTCCCCTGCA CACCCCCACCCCCTCCCCACACACGCACACCCCACCCCCTCCCCGCACAC CCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACACCCCACCC CCTCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PNPLA7_chr9_137454952_137555402	137502730	G G	GGGGGGAC others(727): Show GGGGGGACGGGGGGGCGGGGGGGGACGCGGGGGACGGGGGGGACGGGGGG GACGCGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGGCGGGGGGGGCGGG GGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGCGGGGGGGAC GGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGCGGGGG GGGCGGGGGGGACGGGGGGGCGGGGGGGGACGCGGGGGACGGGGGGGACG GGGGGGACGCGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGGCGGGGGGG ACGGGGGGGACGGGGGGGACGCGGGGGGCGGGGGGGGCGGGGGGGACGCG GGGGACGGGGGGGACGGGGGGGACGCGGGGGGCGGGGGGGGCGGGGGGGA CGGGGGGGACGCGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGGCGGGGG GGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGCGGGGGGGGC GGGGGGGACGGGGGGGCGGGGGGGACGGGGGGGACGGGGGGGACGCGGGG GGCGGGGGGGGCGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGC GGGGGGCGGGGGGGGCGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGG GCGGGGGGGGCGGGGGGGACGGGGGGGCGGGGGGGACGGGGGGGGCGGGG GGGGGCGGGGGGGACGGGGGGGACGGGGGGGACGC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0054 a0011c0011t0001g0054	1	188	0.0053	734	c.147 others(753): Show c.1474-1004_1474-1003insGCGTCCCCCCCGTCCCCCCCGTCCCC CCCGCCCCCCCCCGCCCCCCCCGTCCCCCCCGCCCCCCCGTCCCCCCCGC CCCCCCCGCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGCCCCCC CCGCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCC CCCCCCGCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGCCCCCCC GTCCCCCCCGCCCCCCCCGCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCC CCGCGTCCCCCCCCGCCCCCCCGTCCCCCCCGCCCCCCCCGCCCCCCGCG TCCCCCCCGTCCCCCCCGCCCCCCCCGCCCCCCGCGTCCCCCCCGTCCCC CCCGTCCCCCGCGTCCCCCCCGCCCCCCCCGCCCCCCGCGTCCCCCCCGT CCCCCCCGTCCCCCCCGCCCCCCCGTCCCCCCCGCCCCCCCCGCCCCCCG CGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCCGCCCCCCCGTCC CCCCCGCCCCCCCCGCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCC GTCCCCCCCGTCCCCCCCGCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCC CCCGTCCCCCCCGCCCCCCCCGCCCCCCCGTCCCCCCCGCCCCCCCCGCC CCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCCGCCCCCC CGTCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PRPF31_chr19_54110754_54136713	54133807	C C	CCTCTCCA others(727): Show CCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTTCCCTGTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	227	0.0044	734	c.23 others(745): Show c.2375_*2376insCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTC TCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCT CCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2095		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	433137	C C	CATTCTCC others(727): Show CATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCATG TTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTCA TTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAAA TATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGC ATGGTGGTGGACGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCT CTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAAA AAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTGC TACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTTG AGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTT GGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03041.hp1 HG02257.hp2 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0058 a0001c0008t0057 a0001c0006t0058 a0001c0008t0057	a0001c0006t0058g0111 a0001c0008t0057g0113 a0001c0006t0058g0111 a0001c0008t0057g0113	2	295	0.0068	734	c.714 others(751): Show c.714+6437_714+6438insCAAGAAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCAT GTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTC ATTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAA ATATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGG CATGGTGGTGGACGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCC TCTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAA AAAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTG CTACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTT GAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCT TGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCA GCCTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	433137	C C	CATTCTCC others(727): Show CATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCATG TTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCAGCCTGTCA TTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAAA TATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGC ATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAAA AAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTGC TACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTTG AGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTT GGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0149	1	295	0.0034	734	c.714 others(751): Show c.714+6437_714+6438insCAAGAAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCAT GTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCAGCCTGTC ATTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAA ATATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGG CATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAA AAAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTG CTACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTT GAGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCT TGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCA GCCTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	433137	C C	CATTCTCC others(727): Show CATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCATG TTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTCA TTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAAA TATACAGGCACGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGC ATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAAA AAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTGC TACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTTG AGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTT GGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02055.hp2 others(26): Show HG01243.hp1 HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG06807.hp1 NA18522.hp2 NA19030.hp1 NA20129.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 others(13): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0023 a0001c0001t0035 a0001c0001t0036 a0001c0002t0009 a0001c0002t0019 a0001c0002t0038 a0001c0002t0043 a0001c0002t0044 a0003c0005t0014	a0001c0001t0008g0294 a0001c0001t0010g0032 a0001c0001t0010g0046 others(26): Show a0001c0001t0008g0294 a0001c0001t0010g0032 a0001c0001t0010g0046 a0001c0001t0011g0110 a0001c0001t0012g0030 a0001c0001t0012g0031 a0001c0001t0012g0104 a0001c0001t0013g0026 a0001c0001t0013g0027 a0001c0001t0013g0028 a0001c0001t0013g0029 a0001c0001t0013g0033 a0001c0001t0013g0035 a0001c0001t0015g0039 a0001c0001t0018g0043 a0001c0001t0018g0044 a0001c0001t0023g0036 a0001c0001t0023g0103 a0001c0001t0035g0045 a0001c0001t0036g0034 a0001c0002t0009g0040 a0001c0002t0009g0041 a0001c0002t0019g0037 a0001c0002t0038g0038 a0001c0002t0043g0025 a0001c0002t0044g0042 a0003c0005t0014g0022 a0003c0005t0014g0023 a0003c0005t0014g0024	29	295	0.0983	734	c.714 others(751): Show c.714+6437_714+6438insCAAGAAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCAT GTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTC ATTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAA ATATACAGGCACGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGG CATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAA AAAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTG CTACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTT GAGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCT TGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCA GCCTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	433137	C C	CATTCTCC others(727): Show CATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCATG TTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTCA TTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAAA TATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GTCCGAGGCAGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGC ATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAAA AAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTGC TACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTTG AGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTT GGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0175 a0001c0004t0003g0175	1	295	0.0034	734	c.714 others(751): Show c.714+6437_714+6438insCAAGAAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCAT GTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTC ATTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAA ATATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGTCCGAGGCAGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGG CATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAA AAAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTG CTACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTT GAGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCT TGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCA GCCTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	433137	C C	CATTCTCC others(727): Show CATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCATG TTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTCA TTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAAA TATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGC ATGGTGGGGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAAA AAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTGC TACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTTG AGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTT GGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCG	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA18948.hp2 HG01361.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0251 a0001c0001t0001g0200 a0001c0001t0001g0251	2	295	0.0068	734	c.714 others(751): Show c.714+6437_714+6438insCAAGAAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCAT GTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTC ATTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAA ATATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGG CATGGTGGGGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAA AAAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTG CTACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTT GAGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCT TGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCA GCCTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	433137	C C	CATTCTCC others(727): Show CATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCATG TTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTCA TTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAAA TATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGC ATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTAGGCAACTGAGCAAGACTCTGTCTCAAAAAAAAAAA AAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTGC TACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTTG AGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTT GGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19077.hp1 HG00423.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0016 a0001c0001t0010 a0001c0001t0016	a0001c0001t0010g0004 a0001c0001t0016g0003 a0001c0001t0010g0004 a0001c0001t0016g0003	2	295	0.0068	734	c.714 others(751): Show c.714+6437_714+6438insCAAGAAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCAT GTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTC ATTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAA ATATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGG CATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTAGGCAACTGAGCAAGACTCTGTCTCAAAAAAAAAA AAAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTG CTACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTT GAGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCT TGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCA GCCTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	433137	C C	CATTCTCC others(727): Show CATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCATG TTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTCA TTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAAA TATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGC ATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAAA AAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTGC TACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTTG AGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTT GGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(187): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp2 NA19054.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0001c0014 a0001c0019 a0002c0003 a0002c0018 a0005c0017 a0007c0015 a0008c0016 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0041 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0056 a0001c0001t0061 a0001c0002t0002 a0001c0002t0009 a0001c0002t0016 a0001c0002t0019 a0001c0002t0030 a0001c0002t0053 a0001c0002t0054 a0001c0004t0003 a0001c0004t0008 a0001c0011t0002 a0001c0014t0039 a0001c0019t0002 a0002c0003t0002 a0002c0003t0005 a0002c0003t0007 a0002c0003t0011 a0002c0003t0018 a0002c0018t0009 a0005c0017t0037 a0007c0015t0020 a0008c0016t0002 a0009c0009t0003	a0001c0001t0001g0006 a0001c0001t0001g0115 a0001c0001t0001g0117 others(187): Show a0001c0001t0001g0006 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0264 a0001c0001t0003g0125 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0192 a0001c0001t0003g0202 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0216 a0001c0001t0003g0235 a0001c0001t0003g0252 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0004g0018 a0001c0001t0004g0201 a0001c0001t0005g0007 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0006g0151 a0001c0001t0006g0196 a0001c0001t0006g0207 a0001c0001t0006g0225 a0001c0001t0006g0227 a0001c0001t0006g0238 a0001c0001t0006g0243 a0001c0001t0006g0249 a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0007g0016 a0001c0001t0007g0047 a0001c0001t0007g0048 a0001c0001t0007g0134 a0001c0001t0007g0137 a0001c0001t0007g0237 a0001c0001t0008g0148 a0001c0001t0008g0191 a0001c0001t0008g0265 a0001c0001t0010g0194 a0001c0001t0010g0195 a0001c0001t0010g0217 a0001c0001t0010g0222 a0001c0001t0010g0233 a0001c0001t0010g0244 a0001c0001t0011g0132 a0001c0001t0011g0256 a0001c0001t0011g0257 a0001c0001t0011g0258 a0001c0001t0012g0189 a0001c0001t0012g0226 a0001c0001t0012g0276 a0001c0001t0012g0280 a0001c0001t0012g0282 a0001c0001t0014g0142 a0001c0001t0014g0143 a0001c0001t0014g0177 a0001c0001t0015g0122 a0001c0001t0015g0123 a0001c0001t0015g0127 a0001c0001t0015g0136 a0001c0001t0016g0011 a0001c0001t0020g0236 a0001c0001t0020g0247 a0001c0001t0024g0129 a0001c0001t0027g0163 a0001c0001t0029g0020 a0001c0001t0031g0166 a0001c0001t0033g0128 a0001c0001t0034g0208 a0001c0001t0041g0126 a0001c0001t0045g0138 a0001c0001t0046g0131 a0001c0001t0047g0139 a0001c0001t0049g0219 a0001c0001t0050g0168 a0001c0001t0056g0124 a0001c0001t0061g0241 a0001c0002t0002g0121 a0001c0002t0002g0141 a0001c0002t0002g0146 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0167 a0001c0002t0002g0169 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0183 a0001c0002t0002g0190 a0001c0002t0002g0255 a0001c0002t0009g0253 a0001c0002t0009g0254 a0001c0002t0009g0269 a0001c0002t0009g0275 a0001c0002t0009g0284 a0001c0002t0016g0155 a0001c0002t0016g0156 a0001c0002t0019g0285 a0001c0002t0030g0147 a0001c0002t0053g0271 a0001c0002t0054g0267 a0001c0004t0003g0150 a0001c0004t0008g0172 a0001c0011t0002g0019 a0001c0014t0039g0112 a0001c0019t0002g0012 a0002c0003t0002g0093 a0002c0003t0002g0094 a0002c0003t0002g0097 a0002c0003t0002g0293 a0002c0003t0005g0098 a0002c0003t0005g0099 a0002c0003t0007g0095 a0002c0003t0007g0096 a0002c0003t0011g0102 a0002c0003t0018g0101 a0002c0018t0009g0092 a0005c0017t0037g0100 a0007c0015t0020g0199 a0008c0016t0002g0114 a0009c0009t0003g0130	190	295	0.6441	734	c.714 others(751): Show c.714+6437_714+6438insCAAGAAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCAT GTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTC ATTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAA ATATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGG CATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAA AAAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTG CTACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTT GAGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCT TGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCA GCCTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	433137	C C	CATTCTCC others(727): Show CATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCATG TTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTCA TTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAAA TATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGC ATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAAA AAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTGC TACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTTG AGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTT GGTTCACTGCAACCTCCACCTCCCAGGTTCAAGCG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0032 a0001c0006t0032	a0001c0006t0032g0270 a0001c0006t0032g0270	1	295	0.0034	734	c.714 others(751): Show c.714+6437_714+6438insCAAGAAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCAT GTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTC ATTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAA ATATACAGGCATGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGG CATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAA AAAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTG CTACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTT GAGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCT TGGTTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCA GCCTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	433137	C C	CATTCTCC others(727): Show CATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCATG TTAGCCAGGATGGTTTCCATCTCCTGACCTCGTGATCTGCCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTCA TTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAAA TATACAGGCACGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGC ATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAAA AAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTGC TACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTTG AGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTT GGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03579.hp1 NA19043.hp1 others(1): Show HG02976.hp2 HG03579.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0025 a0001c0001t0060 a0001c0012t0059 a0001c0001t0025 a0001c0001t0060 a0001c0012t0059	a0001c0001t0025g0021 a0001c0001t0025g0109 a0001c0001t0060g0108 others(1): Show a0001c0001t0025g0021 a0001c0001t0025g0109 a0001c0001t0060g0108 a0001c0012t0059g0107	4	295	0.0136	734	c.714 others(751): Show c.714+6437_714+6438insCAAGAAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCAT GTTAGCCAGGATGGTTTCCATCTCCTGACCTCGTGATCTGCCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTC ATTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAA ATATACAGGCACGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGG CATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAA AAAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTG CTACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTT GAGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCT TGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCA GCCTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	433137	C C	CATTCTCC others(727): Show CATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCATG TTAGCCAGGATGGTTTCCATCTCCTGACCTCGTGATCTGCCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTCA TTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAAA TATACAGGCACGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATGCTGGCTA ACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGC ATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAAA AAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTGC TACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTTG AGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTT GGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00544.hp1 others(42): Show HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG01109.hp2 HG01258.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02273.hp2 HG02559.hp1 HG02622.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG03130.hp1 HG03704.hp2 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18951.hp2 NA18954.hp1 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18979.hp2 NA18984.hp2 NA19004.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19082.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0004c0007 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0028 a0001c0001t0042 a0001c0001t0048 a0001c0001t0051 a0001c0001t0055 a0001c0002t0005 a0001c0002t0009 a0001c0002t0019 a0001c0004t0003 a0001c0004t0011 a0001c0013t0052 a0004c0007t0022 a0006c0010t0005	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0002g0078 others(42): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0002g0078 a0001c0001t0002g0086 a0001c0001t0003g0060 a0001c0001t0003g0076 a0001c0001t0003g0180 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0059 a0001c0001t0004g0074 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0178 a0001c0001t0005g0066 a0001c0001t0005g0105 a0001c0001t0007g0053 a0001c0001t0007g0082 a0001c0001t0008g0063 a0001c0001t0008g0065 a0001c0001t0008g0068 a0001c0001t0008g0071 a0001c0001t0008g0077 a0001c0001t0011g0179 a0001c0001t0017g0057 a0001c0001t0017g0061 a0001c0001t0017g0087 a0001c0001t0028g0091 a0001c0001t0042g0085 a0001c0001t0048g0050 a0001c0001t0051g0064 a0001c0001t0055g0058 a0001c0002t0005g0070 a0001c0002t0005g0075 a0001c0002t0005g0079 a0001c0002t0009g0081 a0001c0002t0019g0106 a0001c0004t0003g0052 a0001c0004t0011g0062 a0001c0013t0052g0069 a0004c0007t0022g0067 a0006c0010t0005g0080	45	295	0.1525	734	c.714 others(751): Show c.714+6437_714+6438insCAAGAAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCAT GTTAGCCAGGATGGTTTCCATCTCCTGACCTCGTGATCTGCCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTC ATTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAA ATATACAGGCACGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATGCTGGCT AACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGG CATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAA AAAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCCTACTCTG CTACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTT GAGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCT TGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCA GCCTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	433137	C C	CATTCTCC others(727): Show CATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCATG TTAGCCAGGATGGTTTCCATCTCCTGACCTCGTGATCTGCCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTCA TTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAAA TATACAGGCACGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATGCTGGCTA ACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGC ATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAAA AAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCGTACTCTGC TACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTTG AGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTT GGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0083 a0001c0001t0040g0083	1	295	0.0034	734	c.714 others(751): Show c.714+6437_714+6438insCAAGAAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCAT GTTAGCCAGGATGGTTTCCATCTCCTGACCTCGTGATCTGCCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTC ATTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAA ATATACAGGCACGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATGCTGGCT AACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGG CATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAA AAAAAAGAAATATACAATATATTGTTGTTAAATTTAGTCACCGTACTCTG CTACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTT GAGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCT TGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCA GCCTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	433137	C C	CATTCTCC others(727): Show CATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCATG TTAGCCAGGATGGTTTCCATCTCCTGACCTCGTGATCTGCCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTCA TTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAAA TATACAGGCACGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATGCTGGCTA ACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGC ATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAAA AAAAAGAAATATGCAATATATTGTTGTTAAATTTAGTCACCCTACTCTGC TACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTTG AGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTT GGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0084 a0001c0001t0011g0084	1	295	0.0034	734	c.714 others(751): Show c.714+6437_714+6438insCAAGAAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGAAGTTTCACCAT GTTAGCCAGGATGGTTTCCATCTCCTGACCTCGTGATCTGCCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCCGGCCTGTC ATTTTTATATATTGGGAAAGTTTTGAGTCCTTTCTTCTAGGTATGTTGAA ATATACAGGCACGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGTCCGAGGCGGGTGAATCACGAGGTCAGGAGATCGAGACCATGCTGGCT AACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGG CATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTAGGCGACTGAGCAAGACTCTGTCTCAAAAAAAAAA AAAAAAGAAATATGCAATATATTGTTGTTAAATTTAGTCACCCTACTCTG CTACCAAACATTAGAACTTATCCTTTCTCATTGTAATTTTTTTTTTTTTT GAGATGGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCT TGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCA GCCTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492428	C C	CGGGAGAC others(727): Show CGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0237 a0001c0001t0007g0237	1	295	0.0034	734	c.126 others(753): Show c.1265+3444_1265+3445insTCCAGAGCCCTCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACC CGAGGCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114099721	G G	GCCCCCCC others(727): Show GCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCCCCCCC ACAGCCCCCCCACAGCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCC CCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAG CCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCCCCCC ACAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCAGC CCCCCCACAGCCCCCCCACAGCCCCCACAGCCCCCCACAGCCCCCCCACA GCCCCCCCACAGCCCCCACAGCCCCCCACAGCCCCCACAGCCCCCACAGC AGCCCCCCCACAGCCCCCCACAGCCCCCACAGCAGCCCCCACAGCAGCCC CCCCACAGCCCCCCACAGCCCCCCACAGCCCCCACAGCAGCCCCCACAGC AGCCCCCCACAGCCCCCCCACAGCCCCCCGTAGCCCCCACCCCACAGCCC CCCCACAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACATCAGCCCC CCCACAGCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCACAG CCCCCACAGCAGCCCCCCACAGCCCCCACAGCAGCCCCCCCACATCAGCC CCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCGT AGCCCCCACCCCACAGCCCCCCCACAGCCCCCCCA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	67	0.0149	734	c.56- others(751): Show c.56-25885_56-25884insTGGGGGGGCTGTGGGGGGGCTGTGGGGT GGGGGCTACGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGCT GTGGGGGGGCTGATGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGCTGCT GTGGGGGCTGTGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGG CTGTGGGGGGGCTGATGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGC TGTGGGGGGGCTGTGGGGTGGGGGCTACGGGGGGCTGTGGGGGGGCTGTG GGGGGCTGCTGTGGGGGCTGCTGTGGGGGCTGTGGGGGGCTGTGGGGGGC TGTGGGGGGGCTGCTGTGGGGGCTGCTGTGGGGGCTGTGGGGGGCTGTGG GGGGGCTGCTGTGGGGGCTGTGGGGGCTGTGGGGGGCTGTGGGGGCTGTG GGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGCTGTGGGGGGGCTG TGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGG GGGCTGTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTG TGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGG GCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGCTGTGGGG GGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTG GGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(727): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGAATGAGTTGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAG GGATGTGGATGGGGTAGGATGGGATGTGGATGGGGTGGGATGAGATGTGG ATGGGATGGAAAGGGATGTGGATAGAGTGGGATGGGATGGGATGGGATGT GGATGGGATGGGATGGGATGTGGATAGGATGGGATGGGATGGGATGGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGTGG ATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGG GATGTGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGAT GGGATGGGATGTGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTG GATGGGATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGA TGGGATGGGATGGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGA AATGTGGATGGGATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGAT GTGGATGGGATGGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01169.hp1 HG01074.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0155 a0001c0001t0003g0156	2	308	0.0065	734	c.-8- others(751): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCAT CCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCC ATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATC CACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACAACTC ATTCCACCCCATCCACATCTCATTCCACCCCATCCACATCCCATCACATC CCATCCACATCCCATTCCATCCCATCCCATCTACATCCCATCCCATCCCA TCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(727): Show GTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACC GCGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACAC ATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGT CGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAG GCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGTGCA CCACACATACTAACAGTCGTCTTCACAGGCGACCGTGCACCACACTTACT AACAGTCGTCTTCACGGGCGACCGTGCACCACACTTACTAACAGTCGTCT TCACGGGCGACCGTGCACCACACATACTAACAGTCGTCTTCACGGGCGAC CGTGCACCACACTTACTAACAGTCGTCTTCACGGGCGACCTTGCACCACA CTAACAGTCGCCTTCACAAGCGACCGTGCACCACACTTACTAACAGTCGT CTTCACGGGCGACCGTGCACACTTACTAACAGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01361.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0001 a0001c0002t0001g0002	2	133	0.0150	734	c.-39 others(745): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCCGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCTTGTGAAGGCGACTGTTA GTGTGGTGCAAGGTCGCCCGTGAAGACGACTGTTAGTAAGTGTGGTGCAC GGTCGCCCGTGAAGACGACTGTTAGTATGTGTGGTGCACGGTCGCCCGTG AAGACGACTGTTAGTAAGTGTGGTGCACGGTCGCCCGTGAAGACGACTGT TAGTAAGTGTGGTGCACGGTCGCCTGTGAAGACGACTGTTAGTATGTGTG GTGCACGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCG CCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGAC GACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTA TGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCG CGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGT GAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTG TTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGT GGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTC GCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3644		chr17	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(727): Show GTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACC GCGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACAC ATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGT CGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAG GCGACCGTGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGTGCA CCACACATACTAACAGTCGTCTTCACGGGCGACCGTGCACCACACTTACT AACAGTCGTCTTCACGGGCGACCGTGCACCACACTTACTAACAGTCGTCT TCACGGGCGACCGTGCACCACACATACTAACAGTCGTCTTCACGGGCGAC CGTGCACCACACTTACTAACAGTCGTCTTCACGGGCGACCTTGCACCACA CTAACAGTCGCCTTCACAAGCGACCGTGCACCACACTTACTAACAGTCGT CTTCACGGGCGACCGTGCACACTTACTAACAGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03453.hp2 HG03516.hp1 HG02622.hp2 HG03453.hp2 HG03516.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0014 a0001c0001 a0007c0014	a0001c0001t0003 a0001c0001t0017 a0007c0014t0018 a0001c0001t0003 a0001c0001t0017 a0007c0014t0018	a0001c0001t0003g0101 a0001c0001t0017g0099 a0007c0014t0018g0102 a0001c0001t0003g0101 a0001c0001t0017g0099 a0007c0014t0018g0102	3	133	0.0226	734	c.-39 others(745): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCCGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCTTGTGAAGGCGACTGTTA GTGTGGTGCAAGGTCGCCCGTGAAGACGACTGTTAGTAAGTGTGGTGCAC GGTCGCCCGTGAAGACGACTGTTAGTATGTGTGGTGCACGGTCGCCCGTG AAGACGACTGTTAGTAAGTGTGGTGCACGGTCGCCCGTGAAGACGACTGT TAGTAAGTGTGGTGCACGGTCGCCCGTGAAGACGACTGTTAGTATGTGTG GTGCACGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCACGGTCG CCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGAC GACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTA TGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCG CGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGT GAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTG TTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGT GGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTC GCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3644		chr17	TogoVar

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Search Results (Total: 8931 hits)