Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SORCS2_chr4_7187538_7747827	7454590	TGCTGTGT others(646): Show TGCTGTGTTGGGGTCAGGCACTGTGTGTTGGGGTCAGGTGCTGTGTGTTG GGGTCAGGCACTGTGTTGGGGTCAGGCTCTGTGTTGGGGTCAGGCTCCGT GTTGGGGTCAGGCGCTATGTTGGGGTCAGGAGCTGTGTGTTGGGGTCAGG TGCTGTGTTGGGGTCAGGCACTGTGTTGGGGTCAGTGCTGTGTGTTGGGG TCTGGTGCTGTGTTGGGGTCAGGCACTGTGTTGGGGTCTGGTGCTGTGTG TTGGGGTCAGGTGCTGTGTTGGGGTCAGGTGCTGTGTGTTGGGGTCAGGT GCTGTGTTGGGGTCAGGCACTGTGTTGGGGTCAGGTGCTGTGTGTTGGGG TCAGGAGCTGTGTGTTGGGGTCAGGTGCTGTATTGGGGTCAGGCTCCGTG TTAGTGTCATGCGCCACGTTAGGGTCAGGCAGTGTGTTGGGGTCAGGTGC TGTGTGTTGGGGTCAGATGCTGTGTTGGGGTCAGCTGCTGTGTTGGGGTC AGGCACTGTGTTGGGGTCAGGAGCTGTGTGTTGGGGTCAGGTGCTGTGTT GCGGTCAGGCACTGTGTGTTGGGGTCAGGTGCTGTGTGTTGGGGTCAGGC ACTGTGTTGGGGTCAGGCTCTGTGTTGGGGTCAGGCTCCGTGTTGGGGTC AGGC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA20300.hp1 HG03540.hp2 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0009 a0005c0008 a0001c0009 a0005c0008	a0001c0009t0051 a0005c0008t0013 a0001c0009t0051 a0005c0008t0013	a0001c0009t0051g0042 a0005c0008t0013g0155 a0001c0009t0051g0042 a0005c0008t0013g0155	2	168	0.0119	-653	c.548 others(19): Show c.548+58437_548+59089del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ZNF516_chr18_76352682_76500242	76473814	AAGTAGCT others(646): Show AAGTAGCTATCTTATAATCATAAAGGGTAAAGTAGAACTCACAAAGAAGA TGTAATTGTCCTAACACTGGGTTGTTGGTTGTTTTTGTGTGGGGGGGGGG GGGGCTTTCTTTTTGAGACAGGGTCTTACTCTGTGTTGCCCAGGCTGGCC TCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAGAAGTG GGATTACAGGAAAGCACCCCTCCCCCAGCTGTAGTTATATTACACTTTTA AGTCAAATAACACAGAATAACACAAACACAGAATAAAATGCATTTAGAAA CAGCTACAGTGAATACCTGAAAAGACAAACAGAGAAAAATGATCTGGAAG AATTGGCAAATCTCTCGTAAGCATGGCAGATTAAGTAAGCAAAAGTAGTA AGAAACAGACAGCTTGAAAAATAAAGTAAGGCTTATCTAATATATGAGTA TCACACTCCACAATTTGCTATTTTGCTAAATTGGCAATAGAACATCAAAT GCCTCCATATTAACCACAAGGAAGGCTCTAAAAGTTCCATAAATTCAAAA CAGTACAGGTCCCAGGAGCTCCATAATACAGTACCATGACACTAAAAATT AACAAGCAAAAACAAAAACAACACTCATAGAAGTTCAGCCATTTGGAAAA TTCT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0187 a0001c0001t0187	a0001c0001t0187g0089 a0001c0001t0187g0089	1	346	0.0029	-653	c.-27 others(21): Show c.-271-11326_-271-10674del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	1/6			chr18	TogoVar
ABCA12_chr2_214926542_215143626	215142974	TTTTTGAG others(645): Show TTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGGGGCAC AATCTCAGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTG CTTCAGCCTCCTTAGTAGCTGGGATTACAGGCATGTGCCACCATGCCTGG CTAATTTTTTGTACTTTTGGTAGAGACAGGGTTTCACCATATTGGCCAGG CTGGTTTTGAACTCATGACCTCAAGTGATCCACCCTACTCAGCTTCCCAA AGTGCTGGAATTACAGATGTGAGCCCCCACGCCCAGCCTGATCAGTAATA TTTTGGAAGCAGAGGAGAAGGAAAGGTACAGGGGGAAGTGAAAGGGAACA ACTGATTGGCATGTATAGTGGTAGCTGATAGCTTGACTCTTGAACAAGAG AATGTACAAATAGAGTAGGATAAATTCACAAGTCCACACTCAAAAATATC CATTTTTGTATGTGTTTATATAGATGTAAATATGTACTATATATGCTTCT TTACAAATATGTGGCTAGAGATAAAAAGTATATTCAAAAGTATGTAAAAA AATTCACAAAATTTTAACCATTAGATAAGCACATATGGATTGTAAATGGG AAGAAAATGGTATATAATAAAAATGAAACATCTGGCTCTCCAGATATGCA TTT	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	198	0.0051	-652	c.-54 others(11): Show c.-5418_-4767del	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding		4349		chr2	TogoVar
C1R_chr12_7075219_7097445	7083650	GNNNNNNN others(645): Show GNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNN	G G	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	320	0.0031	-652	c.127 others(19): Show c.1273+1559_1274-1545del	C1R	ENSG00000159403.18	transcript	ENST00000647956.2	protein_coding	9/10			chr12	TogoVar
C7orf50_chr7_992006_1143247	1128595	CGTCACCC others(645): Show CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGTC ACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTGTCACCCGG GCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTGTCACCCGGGC TGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTG GAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCACCCGGGCTGGAGT GCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGC AGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAG TGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGC GCCATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGCAGTGGCGCCA TCTCGGCTCATCCCACCGTCACCTGGGCTGGAGTGCAGTGGCGCGATCTC AGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATC TCA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03471.hp1 HG02257.hp2 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0300 a0002c0002t0003g0304 a0002c0002t0003g0300 a0002c0002t0003g0304	2	326	0.0061	-652	c.-1- others(15): Show c.-1-1861_-1-1210del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CNTN3_chr3_74257568_74619659	74516201	GGGCAGGC others(645): Show GGGCAGGCCTGGAATGCACACAGATATGCATGTAAATACAGTTGACTTCT GAACTACACAGCTTTGAATTGCACAAGTCCACATTTGCATGGATTTTCTT TTGCCTCTGCCACCACTGAGACAGCAAGAGCAACCCCCCTTCTTCTTCTT CCTCCCCAGTCTACTCAATGTGAAGACAATGAGGATGAAGACCTTTAGGA TGATCCACTTCCACTTAATGAATAGTAACTACATTTTCTCTTCCTTATAA TTTTCTTAATAACATTGTCTTTTTTCTAGCTTACTTTACTGTAAGAATAC AGAATATAATACACATAACATACCAAATATGTGTTAATTGACTATTTTAT TGGTAAGACTTCTGGTCAACAGTAGGCTCTAAGTATAACAGTTAAGTTTT GGGGGAGTTAAAAGTTATACATAGATTTTCATACTTGGGGGGATGGTCAA CACACCTATTGAGATGGGGCAGAGATCCTTCTTAGGGGCCTGCCAGGCCT TCCCAAGCATAGAAGTAAAGAAAAATCTTGAGTTCCTTCAACGGAAATTC CAGGCGCTGAGCTAGCCCTGATAAGTAAATGAGCAACTTGGTAAGTAAGA ACATAGTAATAGCTTAAAACAATATCCAAGGAAGTTGGAGTCACAAGATG TCT	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02109.hp1 HG02257.hp1 others(6): Show HG02004.hp2 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02922.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0001c0002 a0003c0003 others(3): Show a0001c0001 a0001c0002 a0003c0003 a0003c0026 a0005c0022 a0008c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0009 a0003c0003t0002 a0003c0026t0010 a0005c0022t0002 a0008c0016t0007	a0001c0001t0002g0082 a0001c0001t0003g0049 a0001c0001t0008g0001 others(6): Show a0001c0001t0002g0082 a0001c0001t0003g0049 a0001c0001t0008g0001 a0001c0001t0008g0003 a0001c0002t0009g0085 a0003c0003t0002g0078 a0003c0026t0010g0005 a0005c0022t0002g0053 a0008c0016t0007g0080	9	174	0.0517	-652	c.55+ others(15): Show c.55+4205_55+4856del	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	2/22			chr3	TogoVar
COA1_chr7_43634257_43734523	43695137	AAACCTCC others(645): Show AAACCTCCTGCTTCCTCCCTTACAGTCCCCTCTCAACAGAGCAACTAGTG TGATCCTTTTAAAGCCTAAATAAGACTGTTTCCTCTGCTCAAAACCCTCA AATTTCAGATGGAATCACATTCAAGGTAAAAGACGAAGTCTTTACTATGG CCTCTCTATTGTCTCCCCTCATCTCCTTCTTTTTACCTCCTTACTCCCTC TAATCCAGTCACACTGATCTCCTTGCAGTTCTATGAGCATGTCAGACATG AGGGTCTTATTTGGTATTCTCTCTGCCAGGAATCTTCTTCCTCCAGTTAT CCACATGGCACATGCTCTCTTCTCTCTCTCTCTATCCACAGCATTTATTA CCATCTAAGATACTATGCATTTTCACATCTACTCATTTTCCATTTCCCTT CACTAGAATGTATGCAAATGGGACTTGGCCTGTCACTGAGCAGTCCTCAA TTCATGTGTTGAATGAATGAATGAATAGTGCTTACACTCATTAATACTAC GGCAAATACAAATTAGAGAAATATGAAAAGTCATTACATACCAATCATAT GCCAAAAATTTAAGTCTGGTAAAACCAAGAGTGACCAACATCTGGAACAC AGTTTTATATACCACTGCTGGGAATGTAAATTAATCCAAATACTTTACAG AAC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp2 HG01928.hp2 others(7): Show HG01070.hp1 HG01081.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02148.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0196 a0001c0001t0001g0199 others(7): Show a0001c0001t0001g0176 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222	10	384	0.0260	-652	c.-39 others(19): Show c.-39+33640_-39+34291del	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
DLGAP2_chr8_732628_1713476	1642288	CCCTCACC others(645): Show CCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCT CGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCAC CTGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCC CCCGGTCCTCACCTGTGTCACCCTCGACCCCCCCGGTCCTCACCTGTGTC ACCCTCGAACCCGCCAGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCC CTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCG ACCCCCCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCT GTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGC CGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGCCCTCACCTGTGTCAC CCTCGAACCCGCCGGCCCTCACCTGTGTCACCCCTCGAACCCGCCAGCCC TCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGA ACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCTG TGTCACCCTCGACCCCCCCGGTCCTCACCTGTGTCACCCTCGACCCCCCC GGT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	-652	c.181 others(19): Show c.1810+9273_1810+9924del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137566574	TCTGTCTG others(645): Show TCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGA	T T	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	340	0.0029	-652	c.641 others(17): Show c.641-2072_641-1421del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
GRTP1_chr13_113319163_113369130	113347037	TGGGAGGA others(645): Show TGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAG AGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCA GGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAG AGCGGACCTGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTC TGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGG AGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAG CAGACCCGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTG TGGCTGAGAGCAGACCCAGGAGGATCTCTGTGGCCGAGAGCAGACCTGGG AGGACCTCTGTGGCCGAGAGCGGACCCAGGAGCACCTCTGTGGCTGAGCG GATCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGACCTCTGTG GCTGAGAACAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAG GACCTCTGTGGCTGAGCAGATCTGGGAGGACCTCTGTGGCAGAGAGCAGA CCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	288	0.0035	-652	c.466 others(17): Show c.466-2730_466-2079del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
LPP_chr3_188149157_188895671	188784450	TATATATA others(645): Show TATATATATATTCCATCATATATATATATTCCATCATATATATATTCCAT CATATATATATATTCCATCATATATATATATTCCATCATATATATATATT CCATCATATATATATTCCATCATATATATATTCCATCATATATATATATT CCATCATATATATATATTCCATCATATATATATATTCCATCATATATATA TATTCCATCATATATATATTCCATCATATATATATATTCCATCATATATA TATATTCCATCATATATATATATTTCCATCATATATATATTCCATCATAT ATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCAT ATATATATATTCCATCATATATATATATTCCATCATATATATATATTCCA TCATATATATATATTCCATCATATATATATATTCCATCATATATATATAT TCCATCATATATATATATTCCATCATATATATATATTCCATCATATATAT ATATTCCATCATATATATATATTCCATCATATATATATATTCCATCATAT ATATATATTCCATCATATATATATTCCATCATCATATATATATTCCATCA TATATATATATTCCATCATATATATATATTCCATCATATATATATATTCC ATC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0050 a0002c0004t0003g0050	1	76	0.0132	-652	c.141 others(21): Show c.1410+24179_1410+24830del	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
OTUD7A_chr15_31470398_31875673	31510680	AACATACA others(645): Show AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATATATGTATATCTATATGTAA CATATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATA TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATGTA TATCTATATGTAACATATGTATATCTATATGTAACATACATGTATATCTA TATGTAACATACATGTATATCTATATGTAACATACATATATATGTATATC TATATGTAACATACATATGTATATCTATATGTAACATACATATGTATATC TATATGTAACATACATATGTATATCTATATGTAACATACATATGTATATC TATATGTAACACACATATGTATATCTATATGTAACACACATACATATGTA TATCTATATGTAACACACATACATATGTATATCTATATGTAACACACATA CATATGTATATCTATATGTAACACACATATATATGTATATCTATATGTAA CAC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02148.hp2 HG01123.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0049 a0001c0001t0006g0123 a0001c0001t0005g0049 a0001c0001t0006g0123	2	244	0.0082	-652	c.894 others(17): Show c.894-7514_894-6863del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PLEKHG4B_chr5_87168_194966	164801	AGCTCACA others(645): Show AGCTCACACACTAATGCTGTGACGGAGCGGAGCTCACACTAATGCTGTGA CAGGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACAGT AATGCTGTGACGGGGCGGAGCTCACACTAATGCTGTGACGGGGCGGGGCT TACACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGG GCAGGGCTCACAGTAATGCTCTGACAGGGCGGAGCTCACACTAATGCTCT GACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAA TGCTGTGACGGGGCGGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCT CACACTAATGCTCTGACGGGGCGGGGCTCACAGTACTCCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGA CGGGGCGGGGCTCACTAATGCTCTGACGGGGCGGGGCTCACACTAACGCT CTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACT AATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCT CACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGATGGGGC GGG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0150 a0001c0007t0008g0150	1	210	0.0048	-652	c.347 others(19): Show c.3476+1262_3476+1913del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
RHCE_chr1_25357249_25425825	25391161	TGATGGTC others(645): Show TGATGGTCAAATGCTTATTTTAATTTTTTTTTCTTTTTAATTGAGATGGA CTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCAC TGCAACCTCCACCACCTGGATTCAAAAGATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGATTACAGGCGTGCACCACCATGCCCAGCTGATTTGTTTGT ATTTTTAGTAGAGATGGGGTTTCGCCCTGTTGGCCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCTTGAGCCACCACGCCTGGCCCAAACGCTTATTTTTTTTTTTTTA ATGAATGTGCTGCTTTAACTTGACCCCGTGGCCTGATAGTCCTTTGCCTA CTATCAAGCTCACTGCCCGATTTTCTATTAGCCTCTCCCAGCAGTCTAAG TTCATCATTTTCCCAGTAGATTTTCAAAGTACAACATTATTACTATTCCC ACCCTTGTTCCTTCACTCCTGGGCCCTACCTTCTTCACTTGTCCGTTTCC CTCCTTTCAGTTGAAAACAAAGGGATTGGATAAACTTATTGAAACTCACA CATAATGAGTCTCTCCTTTCTAGTGGATATTAATGAAGAGAGGTCCCTAA AAG	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0059 a0009c0009t0001g0059	1	334	0.0030	-652	c.634 others(15): Show c.634+181_635-247del	RHCE	ENSG00000188672.19	transcript	ENST00000294413.13	protein_coding	4/9			chr1	TogoVar
TAF4B_chr18_26221445_26396685	26247981	TCTCCTAC others(645): Show TCTCCTACGTCAAACCTACTGAGTGACTGGGACTACAGGTGTGCCTCACT ATGCCCAGCTAATTTTTTTTTTTTTTTGGTACATTTGGGATCTCACTGTT TCCCAGGCTGGCCTTGAACTCCTGGGCTCAAGTGATCTTCCTGCCTTAGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCGACTGCACCTGGCCCCTAA TCTCCTTTTTAAATGTCATCTTTATTGAGGTAAAATTTTTGTTATTAAAA AAGGGGAACCTAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCTAAGGCAGGAAGATCACTTGAGCCCAGGAGTTCAAGGCCAG CCTGGGAAACAGTGAGATCCCAAATGTACCAAAAAAAAAAAAAAATTAGC TGGGCATAGTGAGGCACACCTGTAGTCCCAGTCACTCAGTAGGTTTGACG TAGGAGAACTGCTTATGCTAGGGAGGTCAGTCTGAAGTGAGCCCTGATTG TACTAATGCATTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAA AAGTAAAAAAAATTGAGACAGGGTCTTGCTGTCACCCAGGCTGGAATGCA TTAGTACAATCAGGGCTCACTTCAGACTGACCTCCCTAGCATAAGCAGTT CTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0034 a0001c0005t0013g0034	1	274	0.0037	-652	c.344 others(19): Show c.344-17186_344-16535del	TAF4B	ENSG00000141384.13	transcript	ENST00000269142.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF516_chr18_76352682_76500242	76392580	AGGCAGGT others(645): Show AGGCAGGTGGCCGGGTGGGGGAAGGGCAGGTGGGAAGACAAGTGGCCAGG TGGAGGGAGGGCAGGCGGGAAGGCAGGTGACCAGGTGGGGGAAAGGTGGA TGGGAAGGCAGGTGACCAGGTGGGGGAAAGGTGGATGGGAAGGCAGGTGA CCAGGTGGGGGAAAGGTGGATGGGAAGGCAGGTGACCAGGTGGGGGAAAG GTGGATGGGAAGGCAGGTGGCCAGGTGGGGGAAAGGCAGGTAGTCAGGTG GGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0203 a0002c0003t0203	a0002c0003t0203g0077 a0002c0003t0203g0077	1	346	0.0029	-652	c.181 others(21): Show c.1811-12929_1811-12278del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF559_chr19_9319179_9350871	9320776	TACCCGGG others(645): Show TACCCGGGTTGGGCCAAATTCCCCTCTCCCTACAGCTTGAAGGGGACAAA ACCGATAGCCGGCGGGGGGGGGGTGGGGGCTGTGGTACCTTGGAGATTTC TTTGCTTGTTTCTTTCTGGGTGGGGGAGATTAGAGGAGGCTTATCAGTTT CCATTGGCTAGAACAGGACCTTCCATTCTGTATTTGTCCTGATTGGCTAG CAACTTAGGACTTTTTAAAAGAGGCAAAGGCAGAGGAGAACAAAGGATGG AGGAAGTAACTTGTGGGATGCTGAGAAAGGTAAAAACACCTTCAGATAAG GAAGAGGAACAGACTATGACCTAATGCTTGCTTGGACCAGTATAAGCATG CCAGGGCAAATATTTAGGCTAAATTGTGGGAGCTAAGAACATAAAGTACA CTGATTTCTTTATTACAGCTAGCAGATATTTAAGAATGTTAGTGAGAGGT GACAGTGTGCTGGCAGTCCTCACAGCCCTCGCTCGCTCTCGGCGCCTCCT CTGCCTGGGCTCCCACTTTGGCGGCACTTAAGGAGCCCTTTAGCCCACCG CTGCACTGTGGGAGCCCCTTTCTGGGCTGGCCAAGGCTGGATCCGGCTCC CCCAGCTTCACGGAGGTGTGGAGGGAGAGGCACTAGCGGGAACCAGGCTG CGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG02615.hp2 others(6): Show HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02886.hp2 HG02896.hp1 HG03139.hp1 HG03471.hp2 HG03540.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0218 a0001c0001t0003g0219 others(2): Show a0001c0001t0003g0005 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221	9	394	0.0228	-652	c.-36 others(11): Show c.-3657_-3006del	ZNF559	ENSG00000188321.14	transcript	ENST00000603380.6	protein_coding		3402		chr19	TogoVar
AURKB_chr17_8199734_8215575	8213961	GCAACCTC others(644): Show GCAACCTCTGCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCAGGAGAA CTCGCCACCACGCCCAGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTT CATTACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCG TCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACCGTGCCCGG CCTTATAAAGGATATGACCAAGGATACAGATGAAGAGATGCACGGGGCAA GGAGGTGGGAAGGGCATGGAACTTCCATGCCCTTCTGAGGTGTGCCGCCC TTCAGGATGCTCCACGGGTTCAGCTCTCAGGAAGCTCTCTCTACCCCATC CTCTTGGGTCTTTTATGGAGACTTCATTAAATAGGTGTGATTGAAGCATG ACGACTGTGTAGAAATGTGATTGGACGAAGAGGGTATGATCTAGTACTAA TAGGCTGAGTGGGGAAGCCCAGCAAGGCCTGTCTAGATTCTTCCCGGCTT CTCTGTGCAGTATTCCTTCCACCTTCTGAAATGGGGGTCTTATGACCTAT AATTGAACAAGATTGTTCAGAGAATTTATTTATGGCCAGCTTCAGGACAG ACAGGAAAGAGGTAAGATAAGATATATATATATATATATATATATATACA CA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	428	0.0023	-651	c.-41 others(11): Show c.-4108_-3458del	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		3387		chr17	TogoVar
GAL3ST2_chr2_241771822_241809287	241806761	CTCCCCCC others(644): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCAC CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0234 a0003c0003t0001g0234	1	314	0.0032	-651	c.25 others(11): Show c.2596_*3246del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2475		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132223362	CNNNNNNN others(644): Show CNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NN	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02080.hp1 NA18747.hp1 others(2): Show HG00609.hp1 HG02080.hp1 NA18747.hp1 NA18964.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0008t0002 a0001c0001t0001 a0001c0002t0001 a0001c0008t0002	a0001c0001t0001g0035 a0001c0001t0001g0075 a0001c0002t0001g0025 others(2): Show a0001c0001t0001g0035 a0001c0001t0001g0075 a0001c0002t0001g0025 a0001c0002t0001g0135 a0001c0008t0002g0176	5	183	0.0273	-651	c.107 others(21): Show c.1078-20323_1078-19673del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
RIPK1_chr6_3063494_3120187	3090792	AGCGCCTA others(644): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACC TAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCT GCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCA GC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0328 a0001c0001t0011g0328	1	340	0.0029	-651	c.915 others(17): Show c.915+1169_915+1819del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091930	TAACCGCA others(644): Show TAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTG CCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAG AGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACC TCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCT ACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAAC CGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCC GCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCG CGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTC GG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0029 a0001c0004t0001g0029	1	340	0.0029	-651	c.915 others(17): Show c.915+2282_915+2932del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092550	GAACCGCA others(644): Show GAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GT	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02280.hp1 NA18939.hp1 others(2): Show HG01978.hp1 HG02280.hp1 NA18939.hp1 NA18962.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0129 a0001c0001t0001g0269 a0001c0002t0001g0174 others(2): Show a0001c0001t0001g0129 a0001c0001t0001g0269 a0001c0002t0001g0174 a0001c0002t0002g0063 a0001c0002t0002g0142	5	340	0.0147	-651	c.915 others(17): Show c.915+2902_915+3552del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092590	CGCGCCTA others(644): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCT GCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCA GA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18983.hp2 NA18990.hp2 others(2): Show HG03704.hp2 NA18983.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0032 a0001c0002t0002g0012 a0001c0002t0002g0062 others(2): Show a0001c0001t0002g0032 a0001c0002t0002g0012 a0001c0002t0002g0062 a0001c0002t0002g0224 a0001c0002t0002g0272	5	340	0.0147	-651	c.915 others(17): Show c.915+2955_915+3605del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092621	CGCGCCTA others(644): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCT GCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCA GA	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	340	0.0029	-651	c.915 others(17): Show c.915+2986_915+3636del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092767	TAACCGCA others(644): Show TAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAAC CGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTA GG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp2 HG01071.hp2 others(2): Show HG00099.hp1 HG01070.hp2 HG01071.hp2 HG04204.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0204 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0204 a0001c0001t0001g0262 a0001c0001t0001g0263	5	340	0.0147	-651	c.915 others(17): Show c.915+3150_915+3800del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAF4B_chr18_26221445_26396685	26247866	ACTCTGTC others(644): Show ACTCTGTCTCAAAAAAAAGTAAAAAAAATTGAGACAGGGTCTTGCTGTCA CCCAGGCTGGAATGCATTAGTACAATCAGGGCTCACTTCAGACTGACCTC CCTAGCATAAGCAGTTCTCCTACGTCAAACCTACTGAGTGACTGGGACTA CAGGTGTGCCTCACTATGCCCAGCTAATTTTTTTTTTTTTTTGGTACATT TGGGATCTCACTGTTTCCCAGGCTGGCCTTGAACTCCTGGGCTCAAGTGA TCTTCCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCGACT GCACCTGGCCCCTAATCTCCTTTTTAAATGTCATCTTTATTGAGGTAAAA TTTTTGTTATTAAAAAAGGGGAACCTAGGCTGGGCGCAGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTAAGGCAGGAAGATCACTTGAGCCCA GGAGTTCAAGGCCAGCCTGGGAAACAGTGAGATCCCAAATGTACCAAAAA AAAAAAAAAATTAGCTGGGCATAGTGAGGCACACCTGTAGTCCCAGTCAC TCAGTAGGTTTGACGTAGGAGAACTGCTTATGCTAGGGAGGTCAGTCTGA AGTGAGCCCTGATTGTACTAATGCATTCCAGCCTGGGCAACAGAACAAGA CT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0007 a0001c0002t0031g0007	1	274	0.0037	-651	c.344 others(19): Show c.344-17301_344-16651del	TAF4B	ENSG00000141384.13	transcript	ENST00000269142.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
XXYLT1_chr3_195063284_195276159	195066025	GGCAGTTT others(644): Show GGCAGTTTGGGGTGCCTGTGCAGTGATCTGTTGGTGGGCCGGGGTGTGAT CTGTTGGCGGTCTGTGGTGTGACCTGTCAGCGGTCTGGGGTGTGATCTGT CAGCGGGCTGGGGTGCCTGTGCAGTGATCTGTTGGTGGGCTGGGTGTGAT CTGTTGACGGGCTGGGGTGTGATCTGTCAGTGGGCTGGGGTGTGATCTGT GGGCGGGCTGGGGTGCCTGTGCAGTGATCTGTCGGCGGGCCGGGGTGTGA TCTGTGGGCGGGCTGGGGTGCCTGTGCAGTGATCTGTCCGCAGGCTGGGG TGTGATCTGTCGGCGGGCTGGGGTGTGATCTGTGGGCAGGCTGGGGTGCC TGTGCGGTGATCTGTCGGGGGGCTGGGGTGTGATCTGTGGGCGGGCTGGG GTGCCTGTGCGGTGATCTGTGGGCGGGCTGGGGTGCCTGTGAAGTCATCT GTCGGTGGGCCGGGGTGTGATCTGTCGGCAGGCTGTGGAGTGATCTGTCG GTGGGCTGGCTGCCTGTGTGGTGATCCGTCGGCGGGCTGGGGTGCCTATG TGGTGATCTGTCAGCAGGCTGGGGTGTGATCTGTCTATGGGCCAGGGTGT GATCTGTTGGTGGGCTGCAGTGTGATCTGTCGGGCTGGGGTGTGATCTGT CC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG00673.hp2 others(33): Show HG00408.hp1 HG00642.hp1 HG00673.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02129.hp2 HG02300.hp2 HG02523.hp1 HG02698.hp1 HG02723.hp1 HG02895.hp1 HG02965.hp1 HG03471.hp2 HG03540.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18960.hp2 NA18990.hp1 NA19043.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19085.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0016 a0001c0001t0028	a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0033 others(33): Show a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0033 a0001c0001t0003g0043 a0001c0001t0003g0062 a0001c0001t0003g0065 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0082 a0001c0001t0003g0087 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0124 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0170 a0001c0001t0003g0191 a0001c0001t0003g0194 a0001c0001t0005g0005 a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0010 a0001c0001t0005g0053 a0001c0001t0005g0057 a0001c0001t0005g0123 a0001c0001t0005g0127 a0001c0001t0005g0142 a0001c0001t0005g0149 a0001c0001t0014g0026 a0001c0001t0014g0080 a0001c0001t0016g0019 a0001c0001t0016g0134 a0001c0001t0028g0056	36	198	0.1818	-651	c.30 others(11): Show c.3039_*3689del	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding		2258		chr3	TogoVar
ZNF462_chr9_106858166_107018634	106913633	TGTGACCC others(644): Show TGTGACCCAGGCTGGAGTGCAGTGGCATGATCTCGACTCACTGCAACCTC TGTCTCCCAGGCTCAAACAGTTTTCCTGCCTCAGCCTCCCGAGTAGCTGG GATTACAGGCACCTGCCACCAAGCCCGGCTAATTTTTGTGTGTGTTTTTA ATAGAGAAGAGGTTTTACCATGTTGGCTAGGCTGGTCTCGAACTCCTTAC CTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCA TGAGACACTGTGCCCAGCTGACTTGACCATTTTTAATGACATTTGCCCCT TACTCACAAAACTCACAGGATTATCAACTGTGCAAAGGTGGATACAAAGG CCGTATCACTAGGAAAGACAGACCAGTCACATGCCTTCGCCTAGGATTTT TTTTTTTTTCTGAAGAGATTTTTGGTAACATACCCAAATTAGAAAAATAA AACTGAAAACTCATCATGATATCATATAGCATGAGGGCTGCTAAGATCAT TTAGAACCACACAATTCTAAAATCTTGGACCTGGGCTCTCCCAGGTTGTT GACCCTCTAAGGATCCAGAGACTCCCCAGCCAGGACCCCATAAAGGGCCT CTGAAGACAGGTGGGTTATATGCAGAGAACGAAAATACCTGGAGATCATT AA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01109.hp2 others(5): Show HG00140.hp1 HG00642.hp2 HG01109.hp2 HG01192.hp2 HG02602.hp2 HG03654.hp2 HG03688.hp1 HG04228.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0006 a0003c0004t0018 a0003c0004t0002 a0003c0004t0006 a0003c0004t0018	a0003c0004t0002g0025 a0003c0004t0002g0040 a0003c0004t0002g0046 others(5): Show a0003c0004t0002g0025 a0003c0004t0002g0040 a0003c0004t0002g0046 a0003c0004t0002g0051 a0003c0004t0002g0064 a0003c0004t0002g0104 a0003c0004t0006g0103 a0003c0004t0018g0041	8	192	0.0417	-651	c.-30 others(17): Show c.-30-9718_-30-9068del	ZNF462	ENSG00000148143.13	transcript	ENST00000277225.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
ALLC_chr2_3653200_3707671	3671985	ATTTAGAT others(643): Show ATTTAGATCCGAGGTCCTCTGGCTCTAGTTAGATCCGAGGTCCTCTGGCT CTAGTTAGACCTGTGGTCCTCTGGCTCTGGTTAGATGGGAGGTCCTCTGG CTGTGGTTAGATCGGAGGTCCTCTGGCTCTAGTTAGATTGGAGGTCCTCT GGCTCTGGTTAGATGGGAGGTCCTCTGGGTCTGGTTAGATGGGAGGTCCC CAGGCTCTGATTAGATGGGAGGTCCTCTGGTTCTGGTTAGATAGGAGGTC CTCTGGCTCTGGTTAGATGGGAGGTCCTCTGGCTCTGGTTAGATGGGAGG TCCTCTGGCTCTGGTTAGATCGGAAGTCCTCTGGCTCTGGTTAGATAGGA GGTCCTCTGGCTCTGGTTAGATGGGAGGTCCTCTGGCTCTATTTAGATCC GAGGTCCTCTGGCTCTAGTTAGACCTGTGGTCCTCTGGCTCTGGTTAGAT GGGAGGTCCTCTGGCTCTGGTTAGATCGGAGGTCCTCTGGCTCTAGTTAG ATCGGAGGTCCTCTGGCTCTGGTTAGATGGGAGGTCCTCTGGGTCTGGTT AGATAGGAGGTCCTCTGGTTCTGGTTAGATGGGAGGTCCCCTGGCTCTGG TTAGATGGGAGGTCCTCTGGTTCTGGTTAGATAGGAGGTCCTCTGGCTCT G	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp2 HG01256.hp2 others(20): Show HG01081.hp2 HG01243.hp2 HG01256.hp2 HG01361.hp1 HG01891.hp1 HG01975.hp2 HG02559.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02897.hp2 HG03041.hp1 HG03139.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG04199.hp2 HG04228.hp2 NA18942.hp1 NA18995.hp2 NA19082.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0009 a0010	a0001c0001 a0002c0002 a0002c0009 others(7): Show a0001c0001 a0002c0002 a0002c0009 a0002c0015 a0003c0003 a0003c0010 a0005c0007 a0007c0008 a0009c0016 a0010c0014	a0001c0001t0002 a0002c0002t0002 a0002c0009t0002 others(7): Show a0001c0001t0002 a0002c0002t0002 a0002c0009t0002 a0002c0015t0002 a0003c0003t0002 a0003c0010t0004 a0005c0007t0004 a0007c0008t0002 a0009c0016t0002 a0010c0014t0002	a0001c0001t0002g0019 a0001c0001t0002g0154 a0001c0001t0002g0173 others(19): Show a0001c0001t0002g0019 a0001c0001t0002g0154 a0001c0001t0002g0173 a0002c0002t0002g0002 a0002c0002t0002g0056 a0002c0002t0002g0175 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0009t0002g0013 a0002c0015t0002g0053 a0003c0003t0002g0017 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0157 a0003c0003t0002g0171 a0003c0003t0002g0178 a0003c0003t0002g0209 a0003c0010t0004g0256 a0005c0007t0004g0257 a0007c0008t0002g0207 a0009c0016t0002g0180 a0010c0014t0002g0246	23	274	0.0839	-650	c.33+ others(14): Show c.33+796_34-1440del	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	2/11			chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241765806	GTGGGGAG others(643): Show GTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG GTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC T	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0067 a0001c0001t0008g0067	1	412	0.0024	-650	c.130 others(19): Show c.1307-1655_1307-1006del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766356	GTGGGGAG others(643): Show GTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG T	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0185 a0001c0001t0042g0185	1	412	0.0024	-650	c.130 others(18): Show c.1307-1305_1307-656del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPH7_chr9_137549444_137583925	137567702	CGTGAGGA others(643): Show CGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC T	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03225.hp2 HG03195.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0174 a0001c0006t0001g0173 a0001c0001t0001g0174 a0001c0006t0001g0173	2	340	0.0059	-650	c.641 others(17): Show c.641-3198_641-2549del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERC1_chr12_986223_1500931	1086614	GTTGTTGT others(643): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGA TTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTG TTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTA TTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATG CCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACA GGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAA AGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATT A	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA20752.hp1 HG01256.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0097 a0001c0001t0015 a0001c0001t0097	a0001c0001t0015g0038 a0001c0001t0097g0031 a0001c0001t0015g0038 a0001c0001t0097g0031	2	162	0.0124	-650	c.108 others(19): Show c.1086+3044_1086+3693del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
EXOC2_chr6_480154_698139	519176	CCACTGAG others(643): Show CCACTGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCAACAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(59): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00438.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01261.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03710.hp2 NA18522.hp1 NA18906.hp2 NA18969.hp2 NA18979.hp2 NA18981.hp1 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0019 a0001c0022 a0002c0005 a0004c0014 a0005c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 a0001c0001t0025 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0004t0002 a0001c0004t0003 a0001c0007t0002 a0001c0008t0013 a0001c0010t0002 a0001c0011t0008 a0001c0019t0007 a0001c0022t0007 a0002c0005t0002 a0002c0005t0011 a0004c0014t0003 a0005c0016t0001	a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0120 others(59): Show a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0120 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0106 a0001c0001t0002g0146 a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0003g0050 a0001c0001t0003g0059 a0001c0001t0003g0124 a0001c0001t0003g0179 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0004g0002 a0001c0001t0004g0087 a0001c0001t0004g0143 a0001c0001t0004g0251 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0007g0212 a0001c0001t0011g0267 a0001c0001t0019g0090 a0001c0001t0025g0216 a0001c0002t0002g0072 a0001c0002t0002g0187 a0001c0002t0002g0191 a0001c0003t0001g0068 a0001c0003t0002g0061 a0001c0003t0002g0155 a0001c0003t0002g0178 a0001c0003t0003g0205 a0001c0003t0003g0223 a0001c0003t0005g0176 a0001c0003t0005g0230 a0001c0004t0002g0156 a0001c0004t0003g0079 a0001c0004t0003g0116 a0001c0007t0002g0123 a0001c0008t0013g0270 a0001c0008t0013g0271 a0001c0010t0002g0264 a0001c0010t0002g0265 a0001c0011t0008g0154 a0001c0019t0007g0186 a0001c0022t0007g0163 a0002c0005t0002g0097 a0002c0005t0002g0152 a0002c0005t0002g0153 a0002c0005t0011g0266 a0004c0014t0003g0218 a0005c0016t0001g0172	62	272	0.2279	-650	c.238 others(21): Show c.2380+12643_2380+13292del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
RAPGEF1_chr9_131571775_131745076	131586489	CACACACA others(643): Show CACACACACACACACCTGCAGAGCGAGACTCCGTCAAACACACACACACA CACACACCTGCAGAGCGAGACTCCGTCTCAAACACACACACACACACCTG CAGAGCGAGACTCCGTCTCAAACACACACACACACACACACCTGCAGAGA CTCCGTCTCAAACACACACACACACACACACCCCTGCAGAGTGAGACTCC GTCTCAAACACACACACACACCTGCAGAGCGAGACTCCGTCTCACACACA CACCTGCAGAGCGAGACTCCGTCTCACACACACACCTGCAGAGCGAGACT CCGTCAAACACACACACACACACACACACCTGCAGAGCGAGACTCCGTCT CAAACACACACACACACACACACACACCTGCAGAGCGAGACTCCGTCTCA AACACACACACACACCTGCAGAGCGAGACTCCGTCTCAAACACACACACA CACACCTGCAGAGCGAGACTCCGTCTCAAACACACACACACACACACACC TGCAGAGTGAGACTCCGTCTCAAACACACACACACACACACACACACACA CCCCTGCAGAGCGAGACTCCGTCTCAAACACACACACACACACACCTGCA GAGCGAGACTCCGTCTTACACACACACCTGCAGAGCGAGACTCCGTCTCA A	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02976.hp1 HG03195.hp1 HG02886.hp2 HG02976.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0016 a0001c0006 a0001c0016	a0001c0006t0011 a0001c0016t0011 a0001c0006t0011 a0001c0016t0011	a0001c0006t0011g0053 a0001c0006t0011g0302 a0001c0016t0011g0056 a0001c0006t0011g0053 a0001c0006t0011g0302 a0001c0016t0011g0056	3	368	0.0082	-650	c.323 others(18): Show c.3233+597_3233+1246del	RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	22/26			chr9	TogoVar
RBFOX3_chr17_79084345_79616051	79511692	GTACAGCC others(643): Show GTACAGCCCCATGACCAGGGGACGCACACCCGGATACATGTTACCATCGG GTACAGCCCCATGGCCAGGGGACACACACCCAGATACATGTTACCATCGG GTACAGCCCCATGGCCAGGAGACACACATCCGGATACACGTTACCATCGG GTACAGCCCCATGGCCAGGGGACACACGTGCAGATACATATTACCATCGG GTACAGCCCCATGGCCAGGGGACACCCACCCGGATACGTGTTACCATCGG ATACAGCCCCATGGCCAGGGGACACCCACCCGGATACATGTTACCATCGG GTACAGCCCCATAGCCAGGGGACGCACACCTGGATACATGTTACCATCGA GTACAGTCCTATAGCCAGGGGATATACACCCGGATACATATTACCATCGA GTACAGCCCCATGGCCAGGGGACACCCACCCAGATACATGTTACCATTGG GTACAGCCCCATGGCCAGGGGACACCCACCCGGATACATGTTACCATCGG ATATAGCCCCATGGCCAGGGGACGCACACCCGGATACATGTTACCATCGA GTACAGTCCTATAGCCAGGGGATATACACCCGGATACATATTACCATCGG GTACAGCCCCATGGCCAGGGAACACCCACCCGGATACGTGTTACCATCGG A	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03471.hp1 HG03579.hp1 HG02976.hp2 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0023 a0001c0001t0002 a0001c0001t0004 a0001c0001t0023	a0001c0001t0002g0093 a0001c0001t0004g0105 a0001c0001t0023g0127 a0001c0001t0002g0093 a0001c0001t0004g0105 a0001c0001t0023g0127	3	154	0.0195	-650	c.-31 others(21): Show c.-319-29744_-319-29095del	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
SLC66A2_chr18_79897420_79956653	79920684	TGAGGAGA others(643): Show TGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACA GGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGT CAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAG ACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAG GGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGG AGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAAC CGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTC AAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGA GGAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGA ACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAG GTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGA G	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0172 a0001c0001t0007g0172	1	352	0.0028	-650	c.392 others(17): Show c.392-1934_392-1285del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920858	TGAGAGGT others(643): Show TGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGG GTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAAC CGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGT CAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGG GGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAA CCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACGGGAACCGAGGGAGAG GTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGT GAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAG GAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGA CGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAG G	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02818.hp1 HG01106.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0226 a0001c0001t0002g0161 a0001c0001t0002g0226	2	352	0.0057	-650	c.392 others(17): Show c.392-2108_392-1459del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
STYXL1_chr7_75991342_76053000	76038692	CTGGGATT others(643): Show CTGGGATTACAGGCGTGAGCCACCGTTGAATGACATTCTTGAGAATGGCC TCAAGGCGAGCTAACTAACTCTTGTCATATTTGGGTTACATTTTGTTTTG CTGTTTTCTCTTAGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGTGC AGTGGCGCGATCGTCACTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGA GCCTCCCACCTCAGCCTTCCGAGTAGCTGGGACTACAAGTGTGCACCATC ATGCCTAATTTTTTTTTTTTTTTTGAGACGGAATCTTGCCCTGTTGCCTA GGCTGTACTGCAGTGGTGCAATCTCGGCTCACCACAACCTCCGCCTCCCA GGTTCAAGCGATTCTCCTACCAAGTAGCTGGGACTACAGGCATGTGCCAC CATTCCCAGCTAACTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGT TGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTTGGCA TCCCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCACCCGGCCAACTAA TTTTTTTTAGTTTCTGTAGAGTCAGGGTTCCACTATGTTTTCCAGGCTGG TTTCGAACTCCTGGGCTCAAGTGATCTTCCCGCCTCAGCCTCCCAAAGTG G	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp2 HG01884.hp1 others(18): Show HG00639.hp2 HG01192.hp2 HG01884.hp1 HG01891.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA19240.hp1 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0008 a0001c0003 a0005c0008	a0001c0003t0001 a0005c0008t0001 a0001c0003t0001 a0005c0008t0001	a0001c0003t0001g0245 a0001c0003t0001g0248 a0001c0003t0001g0281 others(18): Show a0001c0003t0001g0245 a0001c0003t0001g0248 a0001c0003t0001g0281 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0001g0299 a0005c0008t0001g0289	21	356	0.0590	-650	c.-5+ others(15): Show c.-5+8320_-4-8166del	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar
TAF4B_chr18_26221445_26396685	26248042	ATTTTTTT others(643): Show ATTTTTTTTTTTTTTTGGTACATTTGGGATCTCACTGTTTCCCAGGCTGG CCTTGAACTCCTGGGCTCAAGTGATCTTCCTGCCTTAGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCGACTGCACCTGGCCCCTAATCTCCTTTTTA AATGTCATCTTTATTGAGGTAAAATTTTTGTTATTAAAAAAGGGGAACCT AGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTA AGGCAGGAAGATCACTTGAGCCCAGGAGTTCAAGGCCAGCCTGGGAAACA GTGAGATCCCAAATGTACCAAAAAAAAAAAAAAATTAGCTGGGCATAGTG AGGCACACCTGTAGTCCCAGTCACTCAGTAGGTTTGACGTAGGAGAACTG CTTATGCTAGGGAGGTCAGTCTGAAGTGAGCCCTGATTGTACTAATGCAT TCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAGTAAAAAAA ATTGAGACAGGGTCTTGCTGTCACCCAGGCTGGAATGCATTAGTACAATC AGGGCTCACTTCAGACTGACCTCCCTAGCATAAGCAGTTCTCCTACGTCA AACCTACTGAGTGACTGGGACTACAGGTGTGCCTCACTATGCCCAGCTAA T	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02818.hp2 HG02886.hp2 HG01516.hp1 HG02818.hp2 HG02886.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0006c0013 a0001c0001 a0006c0012 a0006c0013	a0001c0001t0008 a0006c0012t0018 a0006c0013t0018 a0001c0001t0008 a0006c0012t0018 a0006c0013t0018	a0001c0001t0008g0055 a0006c0012t0018g0227 a0006c0013t0018g0228 a0001c0001t0008g0055 a0006c0012t0018g0227 a0006c0013t0018g0228	3	274	0.0110	-650	c.344 others(19): Show c.344-17113_344-16464del	TAF4B	ENSG00000141384.13	transcript	ENST00000269142.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
THEG_chr19_356747_381026	376769	TGTGCCCC others(643): Show TGTGCCCCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCCCC CTCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCC TCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCC T	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0330 a0002c0002t0001g0330	1	370	0.0027	-650	c.-14 others(10): Show c.-1449_-800del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		744		chr19	TogoVar
USP40_chr2_233470526_233571782	233567762	TTATAGTT others(643): Show TTATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTT ATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACC TTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAA CCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATAT AACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTAT ATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTT ATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAG TTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03486.hp1 NA18522.hp2 others(2): Show HG03453.hp2 HG03486.hp1 NA18522.hp2 NA19240.hp1 NA20300.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0011 a0002c0010t0011	a0002c0010t0011g0001 a0002c0010t0011g0017 a0002c0010t0011g0018 others(1): Show a0002c0010t0011g0001 a0002c0010t0011g0017 a0002c0010t0011g0018 a0002c0010t0011g0019	5	324	0.0154	-650	c.-17 others(11): Show c.-1748_-1099del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		981		chr2	TogoVar
C8orf82_chr8_144520733_144534111	144531191	AGAGCAGC others(642): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGC AGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGG GCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	398	0.0025	-649	c.-29 others(11): Show c.-2924_-2276del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
IDI1_chr10_1034419_1054119	1046921	CTGTCTAC others(642): Show CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTGGTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00609.hp1 others(78): Show HG00140.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01169.hp2 HG01243.hp2 HG01361.hp2 HG01433.hp2 HG01884.hp2 HG01993.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18960.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18988.hp1 NA18993.hp2 NA18995.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19011.hp1 NA19057.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19082.hp2 NA19086.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0003c0004t0003	a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0042 others(23): Show a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0003g0003 a0001c0001t0003g0076 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0004g0010 a0001c0001t0004g0069 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0101 a0001c0001t0004g0118 a0001c0001t0005g0026 a0001c0001t0005g0103 a0001c0001t0005g0109 a0003c0004t0003g0028	81	438	0.1849	-649	c.140 others(17): Show c.140+1294_140+1942del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
ITSN2_chr2_24197864_24365536	24324879	ATGAACAC others(642): Show ATGAACACCTTAAAAGAACTCACAGACTCTAATATTTTAAAGAGACTCTA CCAGCCAAGAAAATCACACACAACAATCACGGTTACATATTATCATGATT AATGTAACCAAGAGAATAAAAATGTTCTAAGGCATTTTAACAAGGAATAA TTTTTAAGTAGTGTTCAAATAACCTTTTAAAAAATTAATCATATTAAAAC ATAAAGTATTAATGCACCAAGAATTTTCTAGGAACAAAAAGATAACACTG GTCAGGTGTGATGGCTCATGCCTGTAATCCAAGCACTTTGGGAGGCTAAG GTGGAGGACTTCTTGAGCCCAAGAGTTCAAGACCAGCTTGGACAAGATAG TGAGACCCCCATGTCTACAAAAAATCTAAAAATTAGCTGGGTGTGGTGGC TCACACCTGTGGTCCCAGCTACTCAGGAAGCAGAGGCAGGAGGATTGCTT GAATCTAGCAAGTCGAGGCTGCAGTGAGCTGTGTTCATACCACTACACTC CAACCTGGGCAACAGAGTGGAGACCCTGTCTCAAAAAACAAAACACTGCA ATAAGAAAACTGGGCAATACGTGTAATTCAAAGCCAATTTTAAAATAGTT AATTCAGTCCTGGCTTTCTTATTTAAATATATCAACTAACAGAACCCTTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	224	0.0045	-649	c.31+ others(15): Show c.31+2524_31+3172del	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	2/39			chr2	TogoVar
JPH3_chr16_87597508_87703156	87676707	TTGGGTGA others(642): Show TTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAATTGTTATCTCAGC CAGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGC AAGTGGATCACATGAGGTCAGGAGTTCAAGTCCAGCCTGACCAACATGGC GAAACCCCGTCTCTACTAAAAATACAAAAATTAGGCCAGGCGCGGTGGCG CACGCCTGTAATCCCAGCACTTGGGGAGGCTGAAGTGGGCGGATCACGAG GTCAGGAGATCGAAACCATGGTGAAACCCCGTCTCTACTAAGAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTACAGTGAGC TGAGATCGTGCCACTGCAATCCAGCCTAGGCGACAGAGTGGGACTCCATT ATACACACACACACGCACTATATATATATACACACACACACACACACACA CACACACACACACACACACAAAAAAAAAAATTAGCCGGGTGTGGTGGGCG CCTGTAATCCCAGCCACGTGGGAGGCTGAGGCAGAAGAATTGCCTGAACC TGGGAGGCAGAGTTTGCAGTGAGCCGTGATCATGCCACTGTACTGCAGCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG03516.hp1 HG02109.hp1 HG02280.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0095 a0001c0003t0001g0152 a0001c0003t0001g0012 a0001c0003t0001g0095 a0001c0003t0001g0152	3	380	0.0079	-649	c.116 others(19): Show c.1161-7419_1161-6771del	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
LRRC24_chr8_144517388_144532033	144531191	AGAGCAGC others(642): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGC AGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGG GCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	398	0.0025	-649	c.-49 others(11): Show c.-4940_-4292del	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
OSTN_chr3_191194241_191270615	191259370	TTTTTGTA others(642): Show TTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGACCAGGCTGGC CTCGAACTCGTGACATCATGATCCACCCGCCTTGGCCTCCCGAAGTGCTG GGATTACAGGCGTGAGCCACCTTGCCTGGATTTTTTTTTTTAACCAAAAT ACACTCCCTGGTAAAATTAATAAGCCTTAACCAAGGTTCTGACTTAACCA AGGATGTATGAGGTGTCTCCAAAGAAATAAATGACCACCTCCAAAAAGTC AAAAGTCACACAGATGTCAAACCAACAGGGCCCCCTGACTGGGTATCAAA GCCAGGCGTTGATGCTGAAAGCATGGACTTTTAACTATTAGACCACAAGG CAGGATGGCTTTTATTGTTATTCCCTCAGGCAATCTCTTACAAAGGATTT TAAATGTTTTAGGTCAAATTTTTGCCCTTTAATTTAGTCAAGAGAATTTT GAAAGCTAGCTATGACCCTATTATGTATCCTTCTTTTTTTTTTTTTTTTT TCTTGAGACAGAGTCTCACTCTGTCACCAGGCTGGAGCGCAGTGGTACAA TCTCGACTTACTGCAACCTCCACCTCCCCGGTTCAAGTGATTCTCCTGCC TCAGCCTCCGGGGTAGCTGGGACTACAGGCACACACCATGCCCGGCTAAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	402	0.0025	-649	c.13 others(17): Show c.13-3475_*13-2827del	OSTN	ENSG00000188729.7	transcript	ENST00000682035.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
PFKP_chr10_3062548_3141802	3098023	ATAAACAC others(642): Show ATAAACACACATATATATATAATATTTCTGGTAGAAATTTATAAATATAA GTATACAAATTGGCCAGCTATCAAGGTGCCTGCACTATTGATTAATTTAT ATATAGAACTCCATAATCTATGAGTCATTTCAATTTTAAAAACCTTTCTT TTTTCTGTCCTCCGGACCTTCACTAAGGTGGGCTTATGGATCCAACAATA ATCTATCATGAACTTTTCTAAATCCTTAATAGTTATTCCTTCTTAAGATT AAATGCTGTGGAAAGTGAGTTATGTAGATGAAGTTACCCGTGGGCATTGC TGCATTTCCTGATCTTGTATATTCCGTGGAGAAAAAGATGGGGATGCATT TAGCATTGAAAGGTAATTGTTGGCCAGGCGCGGTGGCTCACGCCTGTAAT TCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGTTTG AGACCAGCATGGCCAACAAGGTGAAGCCCCGTCTCTACTAAAAGCTACAA AAATTAGCCAGGTGCAGTGGCAGGCACCTGTAATCCCAGCTGCTCAGGAG GCTGAGGCAGGAGAATCACTTCAACCCGGGAGGCAGGTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0001 a0001c0065t0001	a0001c0065t0001g0165 a0001c0065t0001g0165	1	402	0.0025	-649	c.187 others(16): Show c.187-1251_187-603del	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21			chr10	TogoVar

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Search Results (Total: 10000 hits)