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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(625): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	436	0.0023	632	c.-26 others(643): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(625): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCT ATCGATAGACAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	632	c.-26 others(643): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGATA CATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(625): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACC CTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCC CCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCA CCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCC CCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCC CCCTCATCCTGCACCTCCCCCCTCCACACCCCCTCACCTCCCCCCACCTT CCACCTCCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	360	0.0028	632	c.35 others(643): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCC CTCTCCCCCTCATCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCC CCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCT CCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCC CCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCT CCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACACCCCCTC ACCTCCCCCCACCTTCCACCTCCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(625): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACC CTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TGCACCTCCCCCTCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTC CCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTC ACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCG CACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTC CCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTC CCCCTCATCCTGCACCTCCCCCCTCCACACCCCCTCACCTCCCCCCACCT TCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	360	0.0028	632	c.35 others(643): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCC CTCTCCCCCTCATCCTGCACCTCCCCCTCTCCACTCCCCCTCACCTCCCC CCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCC TCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACC CTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCC CCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACC TCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACACCCCCT CACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PKP3_chr11_389209_409908	397978	G G	GTACCCCC others(625): Show GTACCCCCGCACACACCTGCATCACCTCCATACCCCCACACACACCTGCG TCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACA CACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTACC CCCACATATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCACCT CCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACA CACCTGCGCCACCTCCCTACCCCCGCACACACCTGCATCACCTCCATACC CCCACACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACC TCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCT GTGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCA CATACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACC TCCGTACACCCGCACACACCTGCGCCACCTCCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	216	0.0046	632	c.106 others(649): Show c.1068+623_1068+624insCCACCTCCCTACCCCCGCACACACCTGC ATCACCTCCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCGCAC ACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTAC CCCCGCACACACCTGTGTCACCTCCCTACCCCCACATATACCTCATCACC TCCGTACACCCGCACATACCTGCGTCACCTCCCTACCCCCACATATACCT CATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACA TATACCTCATCACCTCCGTACACCCGCACACACCTGCGCCACCTCCCTAC CCCCGCACACACCTGCATCACCTCCATACCCCCACACACACCTGCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACC TCCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTACCCCCA CATATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCACCTCCCT ACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACC TGCG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(625): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTCGTGGGAGATGGTGGGAGGT AGTGGGAGACAGTGGCAGACAGTGGGAGGTGGTGGGAGATGGTGGCAGAC GGTGGGAGGTGGTGGGAGACAGTGGGAAGTGGTGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTAGGAGACGGTGGGAGGTGGTGGGAGACACTCGGAGAC GGTGGGATGTGGTGGGAGGTAGTGGGAGACATTGGCAGACGGTGGGAGGT GGTGGGAGATGGTGAGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAT GGCGGGAGGTGGTGGGAGACGGTGGGAGGTGGTGGGAGGTGGTGGGAGAC GGAGAGGTGGGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGG GAGGTCGTGGGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGATGGTGG GAGGTGGTGGGGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGT GGGAAGTGGTGGGAGACGGAGATGGTGGGAGACGGTGGGAGACGGCGGGA GGTGGAGGGAGGCGGCGGGAGATGGCGGGAGGTGGCAGGAGACGTGGGAG GTGGCAGGAGACGGTGGGAGGTGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	632	c.-25 others(643): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCGTCTCCTGCCACC TCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCTCCCTCCACCT CCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCACCACTTCCCA CCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCCCACCACCTCC CACCATCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCC CACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTCTCCG TCTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCGCCA TCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCACCA CCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCACCG TCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTCCCACCG TCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCACCG TCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCACTA CCTCCCACCATCTCCCACGACCTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
RNF213_chr17_80255852_80403794	80355506	C C	CGGGAATG others(625): Show CGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGC TTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGA AGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATG GGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTT ACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGAGGAAGAA GCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGAACG GGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTT ACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAA GCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGG GAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTA CAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGC GGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGA ATGGGGGCTTACAGGGGAAGAAGCGGGGTGAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0028 a0008c0013t0028	a0008c0013t0028g0250 a0008c0013t0028g0250	1	292	0.0034	632	c.108 others(651): Show c.10862+951_10862+952insAAGAAGCGGGGTGAACGGGAATGGGG GCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAA GAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAA TGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGC TTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGAGGAAG AAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGAA CGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGC TTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAG AAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAAT GGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCT TACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAA GCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGG GAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTA CAGGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(625): Show ATGTATACATATAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATACATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATATATATATATATATATATATATATATATATATAT ATAATTTTACAACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	170	0.0059	632	c.59- others(649): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATATATATATA TATACACACACACACACACACACACACACATATACATACACATATATATG TGTGTATATATACATGTATATATATGTATGTATATATGTGTATATATACA TGTATATATGTATGTATATATACGTGTATATTATGTATATATATACACAT GATATATATGTATGTATATATCATGTATATATATACATATATGTGTATAT ATACACGATATATATGTGTATATATCATGTATATATATACATGTATACAA TATATTATATATACATATATATTATATACATGTATATATACCTGTATACA ATATATTATATATACGTGTATATAATATATATACACGTATATATATTGTA TACACGTATATATAATATATACTTTATATATAATATATACATGTATATAT ATACTATATATTATATATTAATATATACATGTATAATATATACATGTATA TATTATATATACATATATATGTATGTATAATATATACATATATGTACATA TAATATACATGTCTATATGTATATATATTATACATACATGTCTATATGTA TACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01243.hp2 HG01257.hp2 others(5): Show HG00408.hp2 HG01243.hp2 HG01257.hp2 NA18906.hp2 NA18970.hp2 NA19012.hp1 NA19077.hp1 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0206 others(5): Show a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0206 a0002c0001t0001g0223 a0002c0001t0001g0226 a0002c0001t0001g0234 a0002c0001t0001g0251 a0002c0001t0001g0255	8	378	0.0212	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTAATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0198 a0002c0001t0001g0198	1	378	0.0027	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTAATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATCCATC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0249 a0002c0001t0001g0249	1	378	0.0027	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18979.hp1 NA18971.hp2 NA18979.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0200 a0002c0001t0001g0276 a0002c0001t0001g0200 a0002c0001t0001g0276	2	378	0.0053	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02056.hp2 HG03017.hp2 others(3): Show HG01255.hp1 HG02056.hp2 HG03017.hp2 HG03710.hp1 NA19080.hp1 NA19088.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0203 a0002c0001t0001g0240 a0002c0001t0001g0243 others(3): Show a0002c0001t0001g0203 a0002c0001t0001g0240 a0002c0001t0001g0243 a0002c0001t0001g0247 a0002c0001t0001g0257 a0002c0001t0001g0258	6	378	0.0159	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCAT CCATCCATCCACCCACCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp2 HG02818.hp2 others(1): Show HG02258.hp2 HG02717.hp2 HG02818.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0040 a0001c0002t0002g0272 a0001c0002t0002g0023 a0001c0002t0002g0040 a0001c0002t0002g0272	4	378	0.0106	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCATCCATCC ATCCACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0196 a0002c0001t0001g0196	1	378	0.0027	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCACCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02818.hp1 NA19043.hp2 others(1): Show HG02055.hp1 HG02818.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0101 a0001c0006t0001g0103 a0001c0006t0001g0108 others(1): Show a0001c0006t0001g0101 a0001c0006t0001g0103 a0001c0006t0001g0108 a0001c0006t0001g0109	4	378	0.0106	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCAT CCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCAT CCACCCACCCACCCACCCACCCATCCATCCATC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0188 a0001c0002t0001g0188	1	378	0.0027	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCC ACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCTGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0180 a0001c0008t0001g0180	1	378	0.0027	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCTGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCAC CCACACACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCC ATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCAT CCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0319 a0001c0013t0001g0319	1	378	0.0027	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCAT CCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCC ACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCATCCAT CCATCCACCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0326 a0001c0007t0001g0326	1	378	0.0027	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCATCC ACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCAC ACACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0044 a0001c0006t0001g0044	1	378	0.0027	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACAC ACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SCNN1D_chr1_1275436_1297025	1289854	C C	CCGTGTCT others(625): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGT GTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	290	0.0035	632	c.166 others(649): Show c.1663-416_1663-415insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTC CGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(625): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCC CACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCTCCCCCCTCCCC ACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	150	0.0067	632	c.77- others(649): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCTCCCCC CTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCC CTCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTTTCCCTTCCCCTCCCCTC CCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(625): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCC CACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCTCCCCCCTCCCC ACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	158	0.0063	632	c.22+ others(649): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCTCCCCC CTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCC CTCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTTTCCCTTCCCCTCCCCTC CCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(625): Show CCCCCTCCCCTCCCCCTCCCCTCCCTCCCCTACCTCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCCCCACCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCCTCCCTATC CCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCCTCCCCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCCCTC CCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCC TCCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCCACCCC CTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0050 a0002c0002t0008g0050	1	158	0.0063	632	c.22+ others(649): Show c.22+36337_22+36338insTCCCCTCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCCCCACCCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCCTC CCTATCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCCTCCCCCCCCCCTCCCCTCCCCTCCCCCCCCTCC CCCCTCCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCC CACCCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTC CCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(625): Show GGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAGGGTGGGGA GGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAGGGCAG AGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAAGGGAG AGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGGGGGAC GGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAGTGGGA GGGGGAGGGGAGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGG GGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGG AAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGAGGAGGGA GGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGA GGGGAGGGGAAGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGGGGG GAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAG GGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 NA19240.hp1 HG02630.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	352	0.0057	632	c.12 others(643): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCTTCCCCTCCCCT CCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCT CCCTCCTCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTC CCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCC CTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCTCCCCTCCCCCT CCCACTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCG TCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTC TCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTC TGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCT CCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(625): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGG GGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGG AGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGG AGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGG GGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGA GGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAG GGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGAGGGGA GGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGG GGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGG GAGGGGAAGGGGGGAAGGGGAAGGGGAGGAGGGAGGGGGAGGGGAGGGGA AGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGGGGG AAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAG GGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	632	c.12 others(643): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTT CCCCTCCCCTCCCCCTCCCTCCTCCCCTTCCCCTTCCCCCCTTCCCCTCC CCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCT CCCCTCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCC TCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCT CCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCC CTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTC CTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTC CCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCC CCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(625): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGG GAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGG GGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAG GGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGG AGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG00140.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	352	0.0057	632	c.12 others(643): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCT TCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCC CCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCT CCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTC CCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCC TCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCC TCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCC CTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCC CCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(625): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGC TGGTCTCAGTGGCTCATGCCTGTAATCCTTGCATATCTTGGGATGGCAAG GAGGGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAACACA CTGAGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGCATGC CTGCAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGAGCCC AGGAAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCAGCCA AGGTGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAGGCCAACC AATTTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTGTCATTTT TAAAAACTTCATACTCTATACATGCATACTTTTTGGTAATCAAATTTATA ACGTGTGTCTAGGCAACCACACATTCAACAGACTACCACGACAGATTTTG CCTAGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	150	0.0067	632	c.531 others(651): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTG GTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTTG ACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGGG ACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGGA ATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGATG CTCCCTCCTTGCCATCCCAAGATATGCAAGGATTACAGGCATGAGCCACT GAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGT AAGCAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTGTGGTATG ATCATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATCCTCCTGC TTCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(625): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGC GGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	422	0.0024	632	c.64 others(643): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCG CTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTC CCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(625): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGCGGTGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	632	c.64 others(643): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCACCGCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGC CCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTC CCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(625): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	422	0.0024	632	c.64 others(643): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGC CCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTC CCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(625): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG01167.hp1 others(47): Show HG00558.hp2 HG00639.hp1 HG01167.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02818.hp2 HG03098.hp1 HG03490.hp1 HG03540.hp1 HG03654.hp1 HG03834.hp1 NA18522.hp2 NA18939.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18973.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18998.hp1 NA19003.hp2 NA19074.hp1 NA19079.hp1 NA19082.hp2 NA19088.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0094 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0051 a0001c0001t0002g0084 a0001c0001t0003g0003 a0001c0001t0005g0043 a0001c0001t0006g0002 a0001c0001t0006g0008 a0001c0001t0009g0034 a0001c0006t0001g0102	50	422	0.1185	632	c.64 others(643): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGC CCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTC CCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(625): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	422	0.0024	632	c.64 others(643): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGC CCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTC CCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(625): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	632	c.64 others(643): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGC CCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTC CCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(625): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATGTATATATG TGCATATATACGCATATATGCGTATATATGTGCATATATACGCATATATG CGTGTATATGTGCATATATACGCATATATGCGTGTATATGTGCATATATA CGCATATATGCGAGTATATGTGCATATATACGCATATATGCGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	188	0.0053	632	c.152 others(651): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATGTATATATGTGCATATATACGCATATATGCGTATAT ATGTGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATAT ATGCGTGTATATGTGCATATATACGCATATATGCGAGTATATGTGCATAT ATACGCATATATGCGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(625): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATGTATATATG TGCATATATACGCATATATGCGTATATATGTGCATATATACGCATATATG CGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	188	0.0053	632	c.152 others(651): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATGTATATATGTGCATATATACGCATATATGCGTATAT ATGTGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATAT ATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(625): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATGTATATATG TGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATATATG CGTGTATATGTGCATATATACGCATATATGCGTGTATATGTGCATATATA CGCATATATGCGAGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGCATATGTGCATATATACGCATATATGTGTGCATATGTGCATATATA CGCATATATGTGTGCATATGTGCATATATACGCATATATGTGTGCATATG TGCATATATACGCATATATGTGTGCATATGTGCATATATACGCATATATG TGTGCATATGTGCATATATACGCATATATGTGTGCATATGTGCATATATA CGCATATATGTGTGCATATGTGCATATATACGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	188	0.0053	632	c.152 others(651): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATGTATATATGTGCATATATACGCATATATGCGTGTAT ATGTGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATAT ATGCGTGTATATGTGCATATATACGCATATATGCGAGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGCATATGTGCATATATACGCATAT ATGTGTGCATATGTGCATATATACGCATATATGTGTGCATATGTGCATAT ATACGCATATATGTGTGCATATGTGCATATATACGCATATATGTGTGCAT ATGTGCATATATACGCATATATGTGTGCATATGTGCATATATACGCATAT ATGTGTGCATATGTGCATATATACGCATATATGTGTGCATATGTGCATAT ATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(625): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATGTATATATG TGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATATATG CGTGTATATGTGCATATATACGCATATATGCGTGTATATGTGCATATATA CGCATATATGCGAGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	188	0.0053	632	c.152 others(651): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATGTATATATGTGCATATATACGCATATATGCGTGTAT ATGTGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATAT ATGCGTGTATATGTGCATATATACGCATATATGCGAGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(625): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATGTATATATG TGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATATATG CGTGTATATGTGCATATATACGCATATATGCGTGTATATGTGCATATATA CGCATATATGCGTGTATATGTGCATATATACGCATATATGCGTGTATATG TGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATATATG CGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGAGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	188	0.0053	632	c.152 others(651): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATGTATATATGTGCATATATACGCATATATGCGTGTAT ATGTGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATAT ATGCGTGTATATGTGCATATATACGCATATATGCGTGTATATGTGCATAT ATACGCATATATGCGTGTATATGTGCATATATACGCATATATGCGTGTAT ATGTGCATATATACGCATATATGCGAGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGAGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(625): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGGGGGTGGGAGCGGGGTGGGAGAACGGGGTGAGA GCGGGGTGGGACAGCGGGGTGGGAGAACGGGGTGGGAGAGCGGGGTGGGA GAGCAGGGTGGGAGGGGTGGGAGAACGGGGTGGGGGTGGGAGGGGGTGGG AGAACGGGGTGGGAGCGAGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAG AGCGGGGTGGGGGTGAGAGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTG GGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGAGGGAGCGGGGTGGG GGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAAC GGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGG GGTGGGAGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	364	0.0028	632	c.157 others(651): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCA CCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACC CCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCC GTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCA CCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACC CCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCAC CCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCC ACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTC TCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACC CCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCC CACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULT6B1_chr2_37162820_37193670	37166469	T T	TCCCTCCC others(625): Show TCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTTCCTGTCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTC CCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTTCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTTCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCTCCCTCCCTTCCTTCCTCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCTCTCCCTCCC TTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTT CCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	354	0.0028	632	c.14 others(643): Show c.1465_*1466insGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGA AGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAG GGAGGGAGAGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGG GAGGAAGGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGG AGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAG GAGGAAGGAAGGGAGGGAGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAAGGGA GGGAGGGAGGAAGGGAGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGG AGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGCAAGGGAGGGA GGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGACAGGAAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGG	SULT6B1	ENSG00000138068.12	transcript	ENST00000535679.6	protein_coding		1350		chr2	TogoVar
TAFA5_chr22_48484553_48756932	48605186	G G	GTGATGAT others(625): Show GTGATGATGGTGATGGTGATGATGATGGTGGTGATGGTGATGGTGGTGAT GATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGGTGATGATGGTGA TGATGGTGATGGTGAGGATGATGGTGGTGGTGATGGTGATGGTAATGGTG GTGGTGATGGTGGTGGTGATAATGTGGCGATGGTGATGGTAATGATGGTG GTGATGGTGTTGATTGTGATGGTGATCATGGTAATGGTGATGATGGTGGT GGCGGTGACGGTGATGGTAATGATGGTGGTGATAGTGATGATGATGGTGA TGGTGGTGGCGGTGATGGTGATGGTAATGATGGTGGTGATAGTGATGACG GTGATGGTAATGATGGTGGTGATGGTGGCGGTGGCGGTGATGGCGATGGT GATGGTAATAATGGTGGTGATGGTGATGGTGATGATGGTGATGATGATGA TGAGGGTGATGGTGATGATGTTGGTGATGGTGATGGTGGTGATGATAATG ATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGTTGAT GGTGATCGTGGTGGTAATGGTGATGATGATGGTGGTGGTGATGGCGATGG TGATGATGGTGGTGATGGTGTTGATGGTGATCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	258	0.0039	632	c.113 others(651): Show c.113-41409_113-41408insATGATGGTGATGGTGATGATGATGGT GGTGATGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGGTGG TGATGGTGGTGATGATGGTGATGATGGTGATGGTGAGGATGATGGTGGTG GTGATGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTGATAATGTGGCG ATGGTGATGGTAATGATGGTGGTGATGGTGTTGATTGTGATGGTGATCAT GGTAATGGTGATGATGGTGGTGGCGGTGACGGTGATGGTAATGATGGTGG TGATAGTGATGATGATGGTGATGGTGGTGGCGGTGATGGTGATGGTAATG ATGGTGGTGATAGTGATGACGGTGATGGTAATGATGGTGGTGATGGTGGC GGTGGCGGTGATGGCGATGGTGATGGTAATAATGGTGGTGATGGTGATGG TGATGATGGTGATGATGATGATGAGGGTGATGGTGATGATGTTGGTGATG GTGATGGTGGTGATGATAATGATGGTGGTGATGGTGGTGGTGGTGATGGT GATGGTGGTGATGGTGTTGATGGTGATCGTGGTGGTAATGGTGATGATGA TGGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGGTGTTGATGGTG ATCATG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48605186	G G	GTGATGAT others(625): Show GTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGATGGTGGT GATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGGTGATGATGG TGATGATGGTGATGGTGAGGATGATGGTGGTGGTGATGGTGATGGTAATG GTGGTGATGGTGGTGGTGATAATGTGGCGATGGTGATGGTAATGATGGTG GTGATGGTGTTGATTGTGATGGTGATCATGGTAATGGTGATGATGGTGGT GGCGGTGACGGTGATGGTAATGATGGTGGTGATAGTGATGATGATGGTGA TGGTGGTGGCGGTGATGGTGATGGTAATGATGGTGGTGATAGTGATGACG GTGATGGTAATGATGGTGGTGATGGTGGCGGTGGCGGTGATGGCGATGGT GATGGTAATAATGGTGGTGATGGTGACGGTGATGATGGTGATGATGATGA TGAGGGTGATGGTGATGATGTTGGTGATGGTGATGGTGGTGATGATAATG ATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGTCGAT GGTGATCGTGGTGGTAATGGTGATGATGATGGTGGTGGTGATGGCGATGG TGATGATGGTGGTGATGGTGTTGATGGTGATCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	258	0.0039	632	c.113 others(651): Show c.113-41409_113-41408insATGATGGTGATGGTGATGATGATGGT GGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGG TGGTGATGGTGGTGATGATGGTGATGATGGTGATGGTGAGGATGATGGTG GTGGTGATGGTGATGGTAATGGTGGTGATGGTGGTGGTGATAATGTGGCG ATGGTGATGGTAATGATGGTGGTGATGGTGTTGATTGTGATGGTGATCAT GGTAATGGTGATGATGGTGGTGGCGGTGACGGTGATGGTAATGATGGTGG TGATAGTGATGATGATGGTGATGGTGGTGGCGGTGATGGTGATGGTAATG ATGGTGGTGATAGTGATGACGGTGATGGTAATGATGGTGGTGATGGTGGC GGTGGCGGTGATGGCGATGGTGATGGTAATAATGGTGGTGATGGTGACGG TGATGATGGTGATGATGATGATGAGGGTGATGGTGATGATGTTGGTGATG GTGATGGTGGTGATGATAATGATGGTGGTGATGGTGGTGGTGGTGATGGT GATGGTGGTGATGGTGTCGATGGTGATCGTGGTGGTAATGGTGATGATGA TGGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGGTGTTGATGGTG ATCATG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(625): Show ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTC ACCCCCGTACCCATCCTATCCACCCACCCACCATCCCCCATCGTATCCAC CCACCCACCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTAT CCACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCC TATCCACCCCCCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCC ATCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCAACCCACCAT CTGCCATCCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCA CCCATCATCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCA CCCATCATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACC CGCCATCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATA CATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACC CACCTACCCATCCATCCTATCCATCCACCCATC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01993.hp1 HG02155.hp2 others(1): Show HG00438.hp1 HG01993.hp1 HG02155.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0001t0001 a0001c0001t0005 a0001c0001t0016	a0001c0001t0001g0114 a0001c0001t0001g0183 a0001c0001t0005g0080 others(1): Show a0001c0001t0001g0114 a0001c0001t0001g0183 a0001c0001t0005g0080 a0001c0001t0016g0222	4	258	0.0155	632	c.113 others(651): Show c.113-25872_113-25871insCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACC CCCACATCCATCCTATCTACTCACCCCCGTACCCATCCTATCCACCCACC CACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACC CCCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCC ACCCCCCCACCATCCCCCATCCTATCCACCCCCCCACCATCCCCCATCCT ATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCC TATCCACCCACCAACCCACCATCTGCCATCCTATCCACCCACCCACCCAC CATCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCC CCACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCC ATCCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCAC CTACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCAC CCACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCAC CCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF25_chr16_89868592_89916379	89884843	C C	CCTCTCCC others(625): Show CCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCC TCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGAC GCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCC TCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGAC GCCCCCTCTCCCTCTGCCTGACGCCCCCTCTCCCTCTGCCTGACGCCCCT CTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGC CTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCC TCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCGTCT GCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCC CTCTCCGTCTGCCTGACGCCCTCCCTCTGCCTGACGCCCTCTCCCTCTGC CTGACGCCCTCTCCCTCTGCCTGACCCCCTCTCCCTCTGCCTGACGCCCC TCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTC TGCCTGACGCCCTCTCCCTCTGCCTGACGCCCT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0267 a0001c0005t0001g0267	1	300	0.0033	632	c.429 others(647): Show c.429+190_429+191insTCCCTCTGCCTGACGCCCCTCTCCCTCTGC CTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCC TCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTG CCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCC TCTCCCTCTGCCTGACGCCCCCTCTCCCTCTGCCTGACGCCCCCTCTCCC TCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGA CGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCC CTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTG ACGCCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCT CCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCCCTCTGCCTGA CGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACCCCCTCTCC CTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCT GACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTC TC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF3_chr19_1604292_1657615	1627945	A A	ACGGGGGT others(625): Show ACGGGGGTGAGGCGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGG AAGGGGACAGTAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0174 a0001c0002t0001g0174	1	352	0.0028	632	c.299 others(647): Show c.299-520_299-519insAGCTCTGCTGTCCCCTTCCCGCCTCACCCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGT GAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTACTGTCCC CTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCC GTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCC CTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCGCCTCACCCC CG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(625): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGT CTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCT TTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03471.hp1 HG03130.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0034 a0001c0001t0018 a0001c0002t0034	a0001c0001t0018g0248 a0001c0002t0034g0124 a0001c0001t0018g0248 a0001c0002t0034g0124	2	256	0.0078	632	c.924 others(649): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGA GAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGA GAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM120B_chr12_121707752_121787068	121747485	C C	CGGGAGTC others(625): Show CGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGAGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	314	0.0032	632	c.189 others(647): Show c.189-836_189-835insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGAGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TP73_chr1_3647516_3741201	3706380	G G	GGGGGTAA others(625): Show GGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGG GGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAA TAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGG ACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAAT CACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGG TGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCC GCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGC AGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCC CGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGG AGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGG GGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAA TAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGG ACAATCACGGTGCCCGCCGCAGGCCCGGGGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0084 a0001c0002t0014g0084	1	358	0.0028	632	c.187 others(649): Show c.187-1125_187-1124insAGGGGGGTAATAGGGACAATCACGGTGC CCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCC GCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGG CCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGG GGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGA GGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGT AATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAG GGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACA ATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCAC GGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGC CCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCC GCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGG CCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGG GGAG	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)