Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Examples: 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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DDX51_chr12_132131594_132149319	132134758	CCGAGTGT others(666): Show CCGAGTGTGCCCACGGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCC ACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTA CCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCTCCG AGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGT GCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCAC CTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC ACGGTGCCCGCTCCTCCCACCTCCCGAGTATGCCCCGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTG TGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCG CTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCG AGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCACGG TGCCCGCTACCTCCCACCTCCCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	1	334	0.0030	-673	c.38 others(11): Show c.3841_*4513del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1835		chr12	TogoVar
OR6N1_chr1_158759236_158777195	158761544	CCTAGATC others(666): Show CCTAGATCCCTGAGGAATTGCCACACTGACTTCCACAATGGTTGAACTAG TTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCATATCCTC TCCAGCACCTGTTGTTTCCTGACTTTTTTTTTTATTATACTTTTAAGTTT TAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGC CATGCTGGTGCGCTGCACTCACTAACTCGTCATCTAGCATTAGGTATATC TCCCGATGCTATCCCTCCCCTCTCCCACCACCCCACAACAGTCCCCAGAG TGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAGTTCCCAC CTATGAGTGAGAATATGCAGTGTTTGGTTTTTTGTTCTTGTGATAGTTTA CTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAA CTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACA TTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTC TTTGCTATTGTGAATAATGCCGCAATAAACATACGGGTGCATGTGTCTTT ATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGG CTGGGTCAAATGGTATTTCCAGTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0001 a0003c0001t0001g0001	1	472	0.0021	-673	c.35 others(11): Show c.3527_*4199del		OR6N1	ENSG00000197403.5	transcript	ENST00000641846.1	protein_coding					2691		chr1	TogoVar
P2RX5_chr17_3668227_3701155	3686340	GGGGCCCC others(666): Show GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCC CCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCA GGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAG CTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCA GAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCC GCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGG ACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACAC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03516.hp1 NA18522.hp1 HG01243.hp2 HG03516.hp1 NA18522.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0009 a0002c0002 a0005c0009	a0002c0002t0001 a0005c0009t0001 a0002c0002t0001 a0005c0009t0001	a0002c0002t0001g0021 a0002c0002t0001g0184 a0005c0009t0001g0344 a0002c0002t0001g0021 a0002c0002t0001g0184 a0005c0009t0001g0344	3	362	0.0083	-673	c.981 others(16): Show c.981+999_981+1671del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739360	AGCCTGAT others(666): Show AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGC AGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGT GAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGG CCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTGATGCAGGGAGT GAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00609.hp2 others(19): Show HG00140.hp2 HG00558.hp1 HG00609.hp2 HG00738.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01255.hp2 HG01516.hp1 HG01516.hp2 HG02004.hp2 HG02129.hp2 HG03239.hp2 HG03491.hp2 NA18612.hp1 NA18977.hp1 NA18992.hp2 NA19078.hp1 NA19091.hp1 NA20805.hp2	a0003 a0003	a0003c0003 a0003c0006 a0003c0003 a0003c0006	a0003c0003t0001 a0003c0003t0004 a0003c0003t0019 others(1): Show a0003c0003t0001 a0003c0003t0004 a0003c0003t0019 a0003c0006t0001	a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0015 others(12): Show a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0015 a0003c0003t0001g0022 a0003c0003t0001g0027 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0116 a0003c0003t0001g0149 a0003c0003t0001g0159 a0003c0003t0004g0123 a0003c0003t0019g0124 a0003c0006t0001g0003 a0003c0006t0001g0015 a0003c0006t0001g0127	22	445	0.0494	-673	c.-35 others(11): Show c.-3552_-2880del		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding					3510		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739449	TGGCCTGA others(666): Show TGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTG ATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCAGGACAGTGAGGGTGGGAGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG03209.hp2 HG01433.hp2 HG03209.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0001 a0003c0003t0004	a0003c0003t0001g0047 a0003c0003t0004g0047 a0003c0003t0001g0047 a0003c0003t0004g0047	2	445	0.0045	-673	c.-34 others(11): Show c.-3463_-2791del		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding					3421		chr17	TogoVar
SLC12A7_chr5_1045384_1117063	1072408	GCCCCCAG others(666): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCC CAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC CCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAG CCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGT GAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCC CCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAG CCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTG AGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCC CCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACA CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATC ACACTTATGCAGCCCCCAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	118	0.0085	-673	c.224 others(18): Show c.2241+552_2241+1224del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
TBX19_chr1_168275877_168319426	168318753	AAGTTCTT others(666): Show AAGTTCTTTGTATATTTTTGTCAAAGTTGTGTCTTTATAAGATCGTATTT CTTTAGAAAAGTTTTTTTTTGTTGTTATTTGTTTGTTTGAGACAGAGTCT TGCTCTGTTGCCTAGGCTGGAGTGCAGCGGCACGATCTTGGCTCGCTGCA ACCTCTGCCTGCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTA GGTGGGATTACAGGCGCTCACCGTCATGCTTGGCTAATTTTTTTGTATTT TTGTAGAGATAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTG ACCTCTGGTGATCCACGCGCCTCGGCCTCCCAAATTGCTGCGATTACAGG CATGAACCGCCGGGCCCAGACAGATTATTATTTTTAATAGCTTTATTGAT ATATAATTTACACAGCCTATTTAAAGGGGAAATTCATTGGACTTTTCTAG TATATTTACAGAGTTGTGTGCCCATAACCATAATCTAATTTTAGAACATT TTTGTCACCCTACAAAGAAAGCTTATACCCATTAATAGTCACTGCCCACT TCCTTCCTACTCACCTCCACCCCCTCCCCTAGGCAGCCACTTATCTCCTT TCTTTCTCTATAGATTTCCCATTCTGGACACTTCATTTGGCTGGAGTCAT GTGATGTATGGTCTTTTGTGACTA	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG03471.hp2 HG02895.hp1 HG02896.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0355 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0355	3	382	0.0079	-673	c.57 others(11): Show c.5752_*6424del		TBX19	ENSG00000143178.13	transcript	ENST00000367821.8	protein_coding					4328		chr1	TogoVar
TIA1_chr2_70204444_70253628	70205431	CGCCTGTA others(666): Show CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGT CAGGAGATCCAGACCATCCTGGCTAACACGGTGAAATCCCGTCTCTATGA AAAATACAAAAAATTAGCCAGGTGTGCTGGCCGGCGCCTGTAGTCCCAGC TACTGGGGAGGCTGAGGAGGAGAATGGCGTGAACCCGGGGGGCAGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCATTCCAGCCTGGGAGAGAGAGCAA CACTCTGCCTCAAAAAAAAAAAAAAAAATAAATAAATAAATAAAATAAAT AAAATAAAACGAATAAAATAAATAAAATAAAATAAATTCTAGGCCGGAAA TGGTGACTCATGACTGTAATCCAGGCCCTTGGGGAGGCTGAGGCAGGCGA ATCACCTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAATATGGTGAAAAC CGGTCTCTATGAAAAATACAAAAATTAGCTCGGCGTGGTGGCAGGCCTAT AACCCCCATACTTTAGGAGGCCAAGGCAGGAAGAGTTTAAATGGCTCCCC TAGTCAATCACTTGTAGGGCCTGTGCTTATTGAATAGCCCACATGGCTGC CAGAAAGGCTGCCTTAGCTTTATCATCCCAATCCCAGGTAGCCCCCTTTT TTGTCAACCAGTACAACGGTTTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02486.hp2 HG02896.hp1 others(5): Show HG01891.hp1 HG02486.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03130.hp1 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0001g0091 others(5): Show a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0101	8	394	0.0203	-673	c.66 others(11): Show c.6615_*7287del		TIA1	ENSG00000116001.17	transcript	ENST00000433529.7	protein_coding					4012		chr2	TogoVar
TSC22D1_chr13_44427143_44581330	44468296	GTACACTA others(666): Show GTACACTAAAAGCCCAGACTTCACCACTGTACAATTCATCTATGTAACCA AAAACCACTTGTACCCCTAAAGCTATTGAATTTTTTTTTTAAAAAAGCTG CTACCATTTATTCAGCATTTACAATATGCTAGGCAATTTTCTAAGCACTT TGTATGTATCATCTTATTTCGTTCCTGTAACAACCCTAACAGTCACCTGG GACACAGAGAAGTAACTTGCCCATAGTAGATGGATCCAGGTTTCAAAACA GTCTGTGCTCCTAACCATGACATTCTGCATTATTTAAGATACCTTCCACC TGCAACAAACCAAGTAATTTTTTGAGGTAGCTGGTATTTAATCCAGCATT TGGGAACCGCTATACTATGGGAATGTTCAAGTCGCTTTAGCCATTTCACT CTTTGAAATCAGACACAAAATCAACAGTATCTCCTATTACTGGTCTTTAT ATCAAGAAATATTATCATCTTTATTATGAAGAATTTATAATATGCTAAAT GCACAGAAATAGTTTTCCTGTAGAAGACTGGCTTATGTCTAAGTTTGCTG TTTCTAACAAAAATAGAAATTTTATATAACATAGTTTTTTCTTAACCTCA CCTAGCAAGTTGCTATGTTTTATCAATTCTGCCCTAATAATATCTTAAAG GCTTTTAAATTCTTTCTGTATTCC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG01928.hp2 others(10): Show HG00323.hp1 HG00733.hp1 HG01928.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02148.hp2 HG02273.hp2 HG02735.hp2 HG02738.hp2 HG03704.hp2 HG04199.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0014 a0003c0003 a0004c0004 others(1): Show a0001c0014 a0003c0003 a0004c0004 a0008c0013	a0001c0014t0003 a0003c0003t0003 a0004c0004t0003 others(2): Show a0001c0014t0003 a0003c0003t0003 a0004c0004t0003 a0004c0004t0007 a0008c0013t0003	a0001c0014t0003g0229 a0003c0003t0003g0216 a0003c0003t0003g0217 others(10): Show a0001c0014t0003g0229 a0003c0003t0003g0216 a0003c0003t0003g0217 a0003c0003t0003g0218 a0003c0003t0003g0219 a0003c0003t0003g0220 a0003c0003t0003g0221 a0004c0004t0003g0223 a0004c0004t0003g0224 a0004c0004t0003g0226 a0004c0004t0007g0227 a0004c0004t0007g0228 a0008c0013t0003g0222	13	240	0.0542	-673	c.291 others(21): Show c.2913-32874_2913-32202del		TSC22D1	ENSG00000102804.16	transcript	ENST00000458659.3	protein_coding	1/2						chr13	TogoVar
WDR81_chr17_1719704_1743585	1739360	AGCCTGAT others(666): Show AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGC AGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGT GAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGG CCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTGATGCAGGGAGT GAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAGGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01074.hp2 others(11): Show HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01106.hp1 HG01169.hp2 HG01346.hp1 HG01981.hp2 HG02129.hp1 HG02145.hp2 HG03239.hp2 NA18612.hp1 NA18981.hp1 NA19055.hp1 NA19091.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0001c0017 a0001c0038 others(1): Show a0001c0003 a0001c0017 a0001c0038 a0007c0048	a0001c0003t0001 a0001c0003t0006 a0001c0017t0001 others(2): Show a0001c0003t0001 a0001c0003t0006 a0001c0017t0001 a0001c0038t0001 a0007c0048t0001	a0001c0003t0001g0003 a0001c0003t0001g0029 a0001c0003t0001g0072 others(5): Show a0001c0003t0001g0003 a0001c0003t0001g0029 a0001c0003t0001g0072 a0001c0003t0001g0074 a0001c0003t0006g0094 a0001c0017t0001g0071 a0001c0038t0001g0003 a0007c0048t0001g0048	14	431	0.0325	-673	c.16 others(11): Show c.1676_*2348del		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					776		chr17	TogoVar
WDR81_chr17_1719704_1743585	1739449	TGGCCTGA others(666): Show TGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTG ATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCAGGACAGTGAGGGTGGGAGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG03209.hp1 HG01433.hp1 HG03209.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0032 a0001c0022t0001g0032	2	431	0.0046	-673	c.17 others(11): Show c.1765_*2437del		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					865		chr17	TogoVar
ADAMTS2_chr5_179105853_179350461	179313246	AGAGCAGG others(665): Show AGAGCAGGGGTGTCAGCAGAGGGGACGCACACGCATTCACACTCATGCAC ACACTCACACCGAGACAGAGGAGGGCCTGGCCAGAGCAGGGGTGTCAGCA GAGGGGACGCACACGCATTCACACTCATGCACACACACACACCGAGACAG AGGAGGGCCTGGCCAGAGCAGGGGTGTCAGCAGAGGGGACGCACACGCAT TCACACTCATGCACACACTCACACCGAGACAGAGGAGGGCCTGGCCAGAG CAGGGGTGTCAGCAGAGGGGACGCACACGCATTCACACTCATGCACACAC ACACATCGAGACAGAGGAGGGCCTGGCCAGAGCAGGGGTGTCAGCAGAGG GGACGCACAAGCATTCACACTCATGCACACACACACTCACACCGAGACAG AGGAGGGCCTGGCCGGAGCAGGGGTGTCAGCAGAGAGGACGCACACGCAT TCACACTCGTGCACACACACACTCACACCGAGACAGAGGAGGGCCTGGCC AGAGCAGGGGTGTCAGCAGAGGGGACGCACAAGCATTCACACTCATGCAC ACACACACTCACACCGAGACAGAGGAGGGCCTGGCCGGAGCAGGGGTGTC AGCAGAGGGGACGCACACGCATTCACACTCGTGCACACACACACTCACAT CGAGACAGAGGAGGGCCTGGCCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02155.hp1 NA18945.hp2 others(9): Show HG00408.hp2 HG02155.hp1 NA18945.hp2 NA18952.hp1 NA18957.hp1 NA18971.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA19005.hp1 NA19066.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0009 a0011 a0016 a0017 a0021 a0023	a0001c0001 a0001c0050 a0002c0002 others(8): Show a0001c0001 a0001c0050 a0002c0002 a0002c0007 a0004c0016 a0009c0021 a0011c0020 a0016c0025 a0017c0027 a0021c0088 a0023c0090	a0001c0001t0002 a0001c0050t0001 a0002c0002t0001 others(8): Show a0001c0001t0002 a0001c0050t0001 a0002c0002t0001 a0002c0007t0002 a0004c0016t0002 a0009c0021t0018 a0011c0020t0003 a0016c0025t0001 a0017c0027t0004 a0021c0088t0003 a0023c0090t0016	a0001c0001t0002g0105 a0001c0050t0001g0177 a0002c0002t0001g0001 others(9): Show a0001c0001t0002g0105 a0001c0050t0001g0177 a0002c0002t0001g0001 a0002c0002t0001g0030 a0002c0007t0002g0097 a0004c0016t0002g0259 a0009c0021t0018g0116 a0011c0020t0003g0096 a0016c0025t0001g0101 a0017c0027t0004g0040 a0021c0088t0003g0214 a0023c0090t0016g0215	12	276	0.0435	-672	c.534 others(19): Show c.534+29849_534+30520del		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADGRA1_chr10_133082924_133136675	133111282	ACCAGACA others(665): Show ACCAGACAACCTGCCCCCCCGGGAACCATCCCTCCTAATCCCACCAGACC ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCC ACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGA CACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCC TCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATC CCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGA CAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGC CCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCCCCCGG GAACCATCCCTCCTAATCCCACCAGACCACCTGCCCGCCACGGGCACCTC CCTCCTAATCCCACCAGACAACCTGCCCGCCACAGACACCTCCCTCCTAA TCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCA GACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCT GCCCACCACAGACACCTCCCTCCTAATGCCTCCAGACCACCTGCCCGCCG TGAGCACCTCCCTCCTAATCCCT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18950.hp1 NA18612.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0065 a0001c0001t0002g0066	2	368	0.0054	-672	c.401 others(17): Show c.401+8447_401+9118del		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ANKRD11_chr16_89262630_89495561	89429130	GACTCTCA others(665): Show GACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGATTCTCA ACTCTCACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCAC GCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGAC GTTCTAGTACACAGCAGGTACTCTCAACTCTCGCGCTCAGACGTTCTAGT ACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCA GGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCT CAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTC GCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCAGGCTCAG ACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTA GTACACAGCAGGGACTCTCAACTCTCAGGCTCAGTCGTTCTAGTACACAG CAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACT CTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTC TCACGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTC AGTCGTTCTAGTACACAGCAGGT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02486.hp2 NA18945.hp1 others(1): Show HG00438.hp1 HG02486.hp2 NA18945.hp1 NA19056.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0009 a0004c0004 a0001c0001 a0002c0009 a0004c0004	a0001c0001t0001 a0002c0009t0001 a0004c0004t0001 a0001c0001t0001 a0002c0009t0001 a0004c0004t0001	a0001c0001t0001g0221 a0002c0009t0001g0294 a0002c0009t0001g0301 others(1): Show a0001c0001t0001g0221 a0002c0009t0001g0294 a0002c0009t0001g0301 a0004c0004t0001g0165	4	310	0.0129	-672	c.-14 others(21): Show c.-144-11434_-144-10763del		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12						chr16	TogoVar
ATP10A_chr15_25673712_25868327	25757844	CCACCTGC others(665): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTC CACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGATCAC CTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACT CATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACC ACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATT CCGACCACCTGATCCACCCTAACTCATTCCAATCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCA CCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCT GCTCCACCCTAACTCATTCCTAT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0094 a0012c0012t0001g0094	1	300	0.0033	-672	c.655 others(19): Show c.655-22375_655-21704del		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
CHMP1A_chr16_89639435_89662708	89647539	AGTGGAGA others(665): Show AGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCAGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGC CGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACC CAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTG GAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAG GCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGA CGTGGAGACCCAGCGCGGGGTCG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03225.hp2 HG02895.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0042 a0001c0001t0004g0037 a0001c0001t0004g0042	2	392	0.0051	-672	c.253 others(15): Show c.253-880_253-209del		CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6						chr16	TogoVar
COMMD7_chr20_32697699_32748467	32739555	GAATGGCG others(665): Show GAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGTCGAGATTGCACC ACTGTACTCCAGCCTCGGTGACAGAGCAAGGCTCTGTATCAAAAAAAAAA AAAAAAAAAATACATAAAAGCACTTAGATCCCTATTGTCCAGTGGCCACT TGCCACATAAGCGCTTGAAAAGGGCTAATCTGACCAGGGGTGGTGGCTCA CTCCTGTAATCCCAGCACTTTGGGGGGCCAAGGTGGGTGGATCACTTGAG GTCAGGAGTTCGAGACTACCCTGACCAACATGGCGAAAGCCCATCTCTAC TAAAAATACAAGAAAAAATTAGATGGGCATGGTGGTGAACACCTGTAATC TCAGCTACTTGAGTGGCTGCAGCATGAGACTCACTTGAACCCTGTAGGCG GAGGTTTCAGTGAGCCGAGATCACATCCCCGCACTCTAGCCTGGGCAACA AAGCGAGACTGTCTTTAAAAAGAAAAGGGCTGGCCGGATGCGGTGGCTCA CACCTGTAATCCCAAAACTTTGGGAGGCCGAGGTGGGCAGATCATGAAGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTATTA AAAATATAAAAAATCAGCCGGGCATGGTCGCAGGCAGCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(107): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00673.hp2 HG00733.hp1 HG01123.hp2 HG01167.hp2 HG01243.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18953.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18992.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0124 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0372 a0001c0001t0002g0078 a0001c0001t0002g0269 a0001c0001t0002g0361 a0002c0002t0001g0077	110	400	0.2750	-672	c.84+ others(15): Show c.84+3081_84+3752del		COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	1/8						chr20	TogoVar
FOXQ1_chr6_1307098_1319758	1319065	CATGGTGG others(665): Show CATGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGT GGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAA CCCCGTCACTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCACGCC TGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAG GAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAA AATACAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTT TGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGC CTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCG GGCAGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCG GGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAG AAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCAC GCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGT TAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACT AAAAATACAAAATTAGCCGGGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02559.hp1 others(2): Show HG01243.hp1 HG01891.hp2 HG02559.hp1 HG03130.hp2 NA18906.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	5	406	0.0123	-672	c.51 others(11): Show c.5150_*5821del		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					4308		chr6	TogoVar
GALNT9_chr12_132191372_132334589	132233386	CAGAGGAG others(665): Show CAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGA GGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGAGG AGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAG CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTG GAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGA GTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT CCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCT GGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAG TGCCACACACTCGATGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0007 a0001c0040t0007	a0001c0040t0007g0002 a0001c0040t0007g0002	1	183	0.0055	-672	c.107 others(21): Show c.1077+13852_1077+14523del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234215	GTGGAGTC others(665): Show GTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGT GGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGG AGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAG CCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTGGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG01109.hp2 others(1): Show HG00140.hp2 HG01070.hp1 HG01109.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0117 a0001c0001t0001g0122 others(1): Show a0001c0001t0001g0083 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0126	4	183	0.0219	-672	c.107 others(21): Show c.1077+13023_1077+13694del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132303587	GCCCGGGC others(665): Show GCCCGGGCACACCCTCGCCCGGACACACCCTCACCCGGGCACAGAATCGC CCAGACACACCCTCGCCTGGGCACACCCTCACCCGGGCACAGCCTCACCC GGGCACACCCTCACCGGGGCACACCCTCACCCGGGCACACCCTCACCCAG ACACACCCTCACCCGGGCACACCCTCACCGGGGCACACCCTCACCCGGGC ACACCCTCACCCAGACACACCCTCACCCGGGCACACCCTCACCGGGGCAC ACCCTCACCCGGACACACCCTCGCCCAGACACACCCTCGCCTGGGCACAG CCTCACCGGGGCACACCCTCACCCAGACACAGCCTCGCCCAGACACACCC TCGCCCGGGCACACCCTCACCTGGGCACAGCCTCACCGGGGCACACCCTC ACCCAGACACAGCCTCACCTGGGCACACCCTCTCCGGGGCACACCCTCGC CCGGACACACCCTCACCCGGGCACACCCTCACCTGGGCACAGCCTCACCG GGGCACACCCTCACCCAGACACAGCCTCACCCGGGCACACCCTCTCCGGG GCACACCCTCGCCCGGACACGCCCTCACCGGGGCACACCCTCACCCAGAC ACGCCCTCACCCAGACACGCCCTCACCTGGGCACATCCTCACCGGGGCAC ACCCTCACCCAGACACACCCTCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01070.hp1 HG01167.hp2 others(29): Show HG00423.hp2 HG01070.hp1 HG01167.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 NA18747.hp1 NA18950.hp2 NA18952.hp1 NA18961.hp1 NA18964.hp1 NA18971.hp2 NA18980.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19067.hp1 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0021 a0001c0027 a0001c0034 a0001c0041 a0004c0024	a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0021t0004 a0001c0027t0001 a0001c0034t0004 a0001c0041t0015 a0004c0024t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0035 others(29): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0002t0001g0022 a0001c0002t0001g0070 a0001c0002t0001g0105 a0001c0002t0001g0135 a0001c0002t0001g0163 a0001c0002t0013g0021 a0001c0003t0001g0139 a0001c0003t0001g0162 a0001c0004t0001g0020 a0001c0004t0001g0060 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0007t0001g0138 a0001c0007t0001g0159 a0001c0021t0004g0155 a0001c0027t0001g0082 a0001c0034t0004g0158 a0001c0041t0015g0178 a0004c0024t0001g0160	32	183	0.1749	-672	c.239 others(19): Show c.239-17829_239-17158del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132304793	ACACACCC others(665): Show ACACACCCTCACCTGGGCACACCCTCGCCCGGGCACACCCTCGCCCGGGC ACACCCTCACCCGGGCACAGAATCGCCCAGACACACCCTCACCGGGGCAC ACCCTCGCCCGGACACGCCCTCACCGGGGCACACCCTCACCCAGACACGC CCTCACCCAGACACGCCCTCACCCGGGCACACCCTCACCCGGGCACACCC TCACCCGGGCACATCCTCACCGGGGCACACCCTCACCCAGACACACCCTC ACCCGGGCACAGAATCGCCCAGACACACCCTCACCTGGGCACACCCTCAC CCGGGCACAGCCTCACCCAGACACGCCCTCACCCGGGCACAGCCTCGCCC GGGCACACCCTCGCCTGGGCACAGCCTCGCCCGGGCACACGCTCACCCAG ACACACCCTTGCCCGGGCACACCCTCGCCCGGACACACCCTCACCCGGGC ACAGAATCGCCCAGACACACCCTCACCGGGGCACACCCTCGCCCGGACAC GCCCTCACCGGGGCACACCCTCACCCAGACACGCCCTCACCCAGACACGC CCTCACCCGGGCACACCCTCACCCGGGCACACCCTCACCCGGGCACATCC TCACCGGGGCACACCCTCACCCGGGCACACCCTCACCCGGGCACAGAATC GCCCAGACACAGCCTGACCTGGG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01943.hp1 HG00733.hp2 HG01943.hp1	a0001 a0002 a0001 a0002	a0001c0031 a0002c0032 a0001c0031 a0002c0032	a0001c0031t0001 a0002c0032t0002 a0001c0031t0001 a0002c0032t0002	a0001c0031t0001g0038 a0002c0032t0002g0167 a0001c0031t0001g0038 a0002c0032t0002g0167	2	183	0.0109	-672	c.239 others(19): Show c.239-19035_239-18364del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
LMF1_chr16_848634_975984	960610	ACACGGGA others(665): Show ACACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGA CCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGA CTCACGGTGACAGCACGGGATCACGACCCAGACAGACTCACGGTGACAGC ACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGA CCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGA CTCACGGTGACAACACGGGATCACGACCCAGACAGACTCACGGTGACAGC ACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGA CCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACAGACT CACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGC ACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGA CCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCAGACAGACTCA CGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCAC GGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACC CAGACACAGACTCACGGTGACAG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0052 a0001c0008t0001g0052	1	294	0.0034	-672	c.194 others(17): Show c.194-6616_194-5945del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LMLN_chr3_197955217_198048720	198004457	CCATCTAT others(665): Show CCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGCCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATAC GTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCAT ACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATC ATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATA TCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACA TATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATA CATATCATACGTAGTAAGTTTGA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02027.hp2 HG03017.hp1 others(5): Show HG00423.hp2 HG02027.hp2 HG03017.hp1 HG03491.hp2 HG03831.hp2 HG04115.hp1 NA18612.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0116 others(5): Show a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122	8	258	0.0310	-672	c.131 others(19): Show c.1319+1384_1319+2055del		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198004509	CCATCTAT others(665): Show CCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTG ACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATAC GTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCAT ACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATC ATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACATA TCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACA TATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATA CATATCATACGTAGTAAGTTTGA	C C	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0173 a0001c0001t0008g0173	1	258	0.0039	-672	c.131 others(19): Show c.1319+1444_1319+2115del		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
MAD1L1_chr7_1810795_2237945	1991285	ACCGCTGG others(665): Show ACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTC ACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCT GGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCC ACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAG AGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCC CACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCAC CTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCT GAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGG GTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGC CGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCAC GAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGG CCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCAC TGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAG CGCCACTGCTGGCCTCACGAGCG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01109.hp1 HG01255.hp2 others(12): Show HG00558.hp2 HG01109.hp1 HG01255.hp2 HG01884.hp1 HG02145.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG04204.hp1 NA18940.hp1 NA18942.hp2 NA18985.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0108 others(12): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0011t0001g0244	15	264	0.0568	-672	c.141 others(21): Show c.1416+10108_1417-10745del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18						chr7	TogoVar
MUC4_chr3_195741771_195816929	195779006	GGGTGGTG others(665): Show GGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGG GTGCCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGT GGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGGCGTGG TGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCC TGACCTGTGGATGCAGAGGAAGTGTCGGTGACAGGAAGAGGCGTGGTGTC ACCTGTGGATACTGAGGAAAGGCTGGTGAGAGGAAGAGGGGTGGCGTGAC CGGTGGATGCTGAGGAAGCATCGGTGACAGGAAGAGTGCTGGTGTCACCT CTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGT GGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTCACCTGTGG ATGCTGAGGAAGTGCTGGTGACAGGAACAGGGGTGGCGTGACCTGTGGAT GCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTAGATAC TGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTG AGGAAGTGTCGGTGACAGGAAGGGGGGTGGCGTGACCTGTGGATGCTGAG GAACGGCTGGTGACAGGAAGAGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01361.hp2 NA19043.hp2 HG01361.hp2 NA19043.hp2	a0176 a0177 a0176 a0177	a0176c0037 a0177c0035 a0176c0037 a0177c0035	a0176c0037t0002 a0177c0035t0002 a0176c0037t0002 a0177c0035t0002	a0176c0037t0002g0197 a0177c0035t0002g0196 a0176c0037t0002g0197 a0177c0035t0002g0196	2	249	0.0080	-672	c.119 others(11): Show c.11902_12573del	p.Ser others(15): Show p.Ser3968_Thr4191del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12685/16756	11902/16239	3968/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195785088	GGTGACAG others(665): Show GGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTTTCGG TGACAGGAAGAGGGGTGGTGTCACCTGTGGATGTTGAGGAAGGGCTGGTG ACAGGAAGAGGGGTGGTGTCCCCTGTGGATAATGAGGAAGCATCGGTGTC ATGAAGAGCGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACAA GAAGAGAGGTGGCGTGACCTGTGGATATTGAGGAAGCGTCGGTGACAAGA AGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGTTAGTGACAGGAAG AGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAG GGGTGTCCTGACCTGTGGATGCTGAGGAAGTATCGGTGACAGGAAGCGGC GTGGTGTCACCAGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGT GGCCTGTCCTGTAGATACTGAGGAAGTGTCGGTGACCGGAAGAGGGGTGG CATGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGCG TGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGCGTG ACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTGAC CTGAGGATGCTGAGGAAGGGCTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG01891.hp2	a0061 a0061	a0061c0198 a0061c0198	a0061c0198t0008 a0061c0198t0008	a0061c0198t0008g0222 a0061c0198t0008g0222	1	249	0.0040	-672	c.582 others(9): Show c.5820_6491del	p.Ser others(15): Show p.Ser1941_Thr2164del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	6603/16756	5820/16239	1940/5412			chr3	TogoVar
PRKCA_chr17_66297613_66815743	66798873	TGGTGATG others(665): Show TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGACGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTG GTGGTGATGGTGGTGGTAGTGAC	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0175 a0001c0001t0069g0175	1	178	0.0056	-672	c.185 others(19): Show c.1855-4995_1855-4324del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
SAMD11_chr1_918923_949574	934161	GCGTTACA others(665): Show GCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAG GCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCA GGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACA GGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTC	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG04115.hp2 HG02735.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0105 a0001c0001t0001g0086 a0001c0001t0001g0105	2	434	0.0046	-672	c.843 others(16): Show c.843-1596_843-925del		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA4D_chr9_89372235_89503113	89404591	ATCCCGTC others(665): Show ATCCCGTCCCCAGCCACCCGCCTCAGCATCCCAGGAAGTGGAGTCCCCAT CCCGACCTCAGCCACTCACCTCAGCATCCCAGGAAGTGGGGTCCCCATCC CGTCCCCAGCCACCCACCGCAGCATCCCAGGAAGTGGGGTCCCTGTCCCA TTCTCAGCCACCCACCTCAGCATCCCAGGAAGTGGGGTCCCTGTCCCGTT CTCAGCCACTCACCTCAGCATCCCAGGAAGTGGGGTCCCCATCCCATCCT CAGCCACCCGCCTCAGCATCCCAGGAAGTGGAGTCCCCATCCCATCCCCA GTCACCCGCCTCAGCATCCCAGGAATTGGGGTCCCCATCCCATCGCCAGC CACCCACCTCAGCATCCCAGGAAGTGGGGTCCCCGTCCCGTCCTCAGCCA CTCACCTCAGCATCCCAGGAAGTGGGGTCCCCATCCCATCCTCAGCCACC CGCCTCAGCATCCCAGGAAGTGGAGTCCCCATCCTGTCCCCAGCCACCCG CCTCAGCATTCCAGGAAGTGGGGTCCCCATCCCATCCCCAGCCACCCGCC TCAGCATCCCAGGAAGTGGGGTCCCCATCCCGTCCTCAGCCACTCACCTC AGCATCTCAGGAAGTGGAGTCCCTGTCCCGTTCCCAGCCACCCGCCTCAG CATTCCAGGAAGTGGGGTCCCTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02165.hp2 NA18956.hp1 others(3): Show HG00544.hp2 HG02165.hp2 NA18956.hp1 NA18970.hp2 NA18982.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0158 a0001c0001t0001g0245 a0001c0001t0001g0250 others(3): Show a0001c0001t0001g0158 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0257 a0001c0001t0001g0270 a0001c0001t0009g0358	6	370	0.0162	-672	c.106 others(14): Show c.106+88_106+759del		SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	3/15						chr9	TogoVar
SMYD3_chr1_245744347_246512279	245975757	CAGGGAAA others(665): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCA TCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0099 a0002c0003t0001g0099	1	150	0.0067	-672	c.532 others(19): Show c.532-46492_532-45821del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975781	TAGGGAAA others(665): Show TAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCATCTCTAGCCTAGGGA AAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT AGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0141 a0002c0003t0001g0141	1	150	0.0067	-672	c.532 others(19): Show c.532-46516_532-45845del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975849	GGCCCAGG others(665): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATC GTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGT CTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCT CTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0109 a0002c0003t0001g0109	1	150	0.0067	-672	c.532 others(19): Show c.532-46584_532-45913del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975877	CAGGGAAA others(665): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCATCTCTAGCCTA GGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCT CTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCT AGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	150	0.0067	-672	c.532 others(19): Show c.532-46612_532-45941del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976093	CAGGGAAA others(665): Show CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCT CTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC AGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCA GGGAAAGCCATCGTCTCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	150	0.0067	-672	c.532 others(19): Show c.532-46828_532-46157del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976165	CAGGGAAA others(665): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCC AGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCC TAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0076 a0001c0006t0001g0076	1	150	0.0067	-672	c.532 others(19): Show c.532-46900_532-46229del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976305	AGCCCAGG others(665): Show AGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATC GTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGT CTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCT CTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT AGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	150	0.0067	-672	c.532 others(19): Show c.532-47040_532-46369del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SVOPL_chr7_138589285_138706362	138673912	AGGTGGCT others(665): Show AGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAG ATCACTTGAGGTCAGGAGTTTGAGACCAGCTTGGCCAACATGGCAAAACC CTGTCTCTACTAAAAATACAAAATAAATTAGCTGGGCGTGGTGGCATGTG CCTATAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATTGCTTGAACC TGGGAGGTAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCC TGAGCAACAGAACAAGACTTCGTCTCCCAGAAAACACATACACACACACA CACACACATACACAGAAGACCAGGACTTAGGAGTCCTGGTCACAGGCTGA GGCTGCTCAGCTGCTGTGGATGCTGTTATATACACCGTCACACGAGGCCC GGAAACCCAACTGCTGCTTCTATGGCCTCTGAATAAGGGCCTGAACAGGT GGAGGGGCCACGGCCCATCACTGTCAACATATCAATGCTGATGGAAGAAT CCTGCTCATAAAGCATCCCATCGTAAGACCAGTCGAAAGATTTGGTCCCT GCACCCAAATAAGCAGTTCTGTCTTCCTTTGTGAGACAGGAGGGGGTGGC CTGGCAGAGAGCCCTTCCTAGCTGGTGAGCTGGGGAGAATTCCCACGACT GTAAGACACTTGAGGCTGGGTGC	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02698.hp1 HG01433.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0271 a0001c0005t0001g0048 a0001c0001t0001g0271 a0001c0005t0001g0048	2	360	0.0056	-672	c.175 others(17): Show c.175-2467_175-1796del		SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	3/15						chr7	TogoVar
VAV2_chr9_133756894_133997324	133827300	GGGGCATC others(665): Show GGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGG GGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCA TCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATC GCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCACGGGCATCGC CAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCA GCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACC TACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGC TGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTG CGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTG CCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCAC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0095 a0001c0007t0003g0095	1	200	0.0050	-672	c.449 others(17): Show c.449+6300_449+6971del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827442	TGGGGGCA others(665): Show TGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTG GGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCACG GGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCA TCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATC GCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCAC CACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCA CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACC TACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTA CTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGC TGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTG CGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTG CCCACTGGGGCTGACCACTGAGC	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0012 a0001c0006t0002g0012	1	200	0.0050	-672	c.449 others(17): Show c.449+6158_449+6829del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827792	CCTACCGC others(665): Show CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACC TACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTA CTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGC TGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTG CGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTG CCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCC CACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCA CTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACT GGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGG GGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGG CTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCT GACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGA CCACTGACCACGGGCATCGCCAG	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02647.hp2 NA18906.hp1 HG01943.hp1 HG02647.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 a0001c0002 a0001c0004 a0001c0007	a0001c0002t0001 a0001c0004t0002 a0001c0007t0003 a0001c0002t0001 a0001c0004t0002 a0001c0007t0003	a0001c0002t0001g0046 a0001c0004t0002g0184 a0001c0007t0003g0004 a0001c0002t0001g0046 a0001c0004t0002g0184 a0001c0007t0003g0004	3	200	0.0150	-672	c.449 others(17): Show c.449+5808_449+6479del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
ACOX1_chr17_75936507_75984166	75968722	AGACCAGC others(664): Show AGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAA AGTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGC CGAGGGAGGAGAATCGCTTGAATGCGGGAGGCGGAAGTTGCGGTGAGCCG AGATCACGCCACTGCACTCCAGCCTGAGCAACAAGAGCAAAACTCCGTCT CAAAAAAAAAAAAAAAGAAATATGTTAAAGTAGCAAAATAAATTAAAGTG ACCACGTTGATGGAGCTGTGGAAATACAGGTACAGAGCTTGCTCAATATA TTGTCAACTGGTTCTGTGTTTCAGGAAAAGCCTCAAACTATGCAGCAAAA GCTCTAAAATGCTCATGTCCCTCAATATAGTAATTCATTTCTGAGAGGTA TTCCAGAAGTATGACCCCAAAGAATACAGCGTCTTATTTATTTATTTATT TATTTATTTTTTGAGACGGAGTCTCACTGTTGTTACCCAGGCTAGAGCGC AATGGCGCAATCTCAGCTCACCACAACTTCCACCTCCCAGGTTCAAAAGC TTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACGCACCATC ACACCCAGGTAATTTTGTATTTTTAGTACGGACGGGGTTTCTCCATGTTG GTCAGGCTGGTCTCGAACTCCC	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0334 a0002c0002t0001g0334	1	344	0.0029	-671	c.270 others(17): Show c.270-9018_270-8348del		ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13						chr17	TogoVar
DDX51_chr12_132131594_132149319	132134875	ACGGTGCC others(664): Show ACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTC CCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGT GTGCCCACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGGTGCC CACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCT CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCC CACCTCCCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACT CCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGA GTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCC CGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCAC CTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCC CACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTC CTCCCACCTCCCGAGTGTGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-671	c.37 others(11): Show c.3726_*4396del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1718		chr12	TogoVar
DDX51_chr12_132131594_132149319	132134931	CCCCGAGT others(664): Show CCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCC ACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGGTGCCCACTCC TCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAG TGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCC CGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCC ACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTAC CTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCG AGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGT GCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCA CCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC ACGGTGCCCACTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	334	0.0030	-671	c.36 others(11): Show c.3670_*4340del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1662		chr12	TogoVar
DOCK8_chr9_209865_470255	320371	TCAGAGAT others(664): Show TCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCT CAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAG ATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTC TGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAA AGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACA CTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAAC CTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCT GGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAC CAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCA GGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACG GAAAAAGCCCAGGTTCTGTGAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0058 a0058	a0058c0132 a0058c0132	a0058c0132t0001 a0058c0132t0001	a0058c0132t0001g0066 a0058c0132t0001g0066	1	256	0.0039	-671	c.827 others(17): Show c.827+3365_827+4035del		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
EZR_chr6_158760748_158824368	158802930	GCGATTCT others(664): Show GCGATTCTCCTGACACCACAGGGAAGCAGGAACTCATTTCCCAGAGAAGC CAGAAGCACTTTAAGGAACTTTTTGAGTAATTTAAATGATGAAAAGTAAC ACTACATGCCACTCACACCTCCTTTTCTAAACTGTTCTCCTTACTACTTC CTCCAGCACCACCATTAGGCTAAACTTAAAATGTCAAGGCTAAATTCTTA ATGTGCAGCAGACGTTAACAGGGCAGAGTATTGACACAGAAGTGGGGGCT GGGAATTTCCTAGTAACTGACTTTTCACGTATCTACATGATGTTACATTT TTATGTTATATAAACGTATGTTTTAAGTAGCCAATCAGAATAGTGATGAA GTATAACTGGTAGAGTGACTCCAAATGAGTACTCGATACGAGGTATACGG TTATCCTCGTCTGATGACCTTTTTTTAATGGTTACAAAAACTGAGACCCT CAACTTCTGGTAATCAGCTACCAAAATATCTGTGTAGCTCTGGCTCTTTA ACATTACTCCTAAAATAGTATCTTTAAATAGATGCCAATGGTTTTATGCT TTTGAAAAGTTTGTATTTACCAACTCCAGGGTAAATATTATGTAACATTA TATATATATATATATGTATATATATATATATATATATATATATATATATA TACATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp1 HG03139.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0043 a0001c0001t0013g0044 a0001c0001t0013g0043 a0001c0001t0013g0044	2	312	0.0064	-671	c.13- others(17): Show c.13-14230_13-13560del		EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13						chr6	TogoVar
PLIN3_chr19_4833341_4872667	4863114	GCCACTGC others(664): Show GCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAACAC AAAAACAAAAATAAGTGTATCCCAATGCAGTGGCTAAAGAATGAGATTTA AAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC AAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAAC ATGGAGAAACCCCATCTCTACTAAAAATATAAAATTAGCCAGGCATGGTG GCGAATGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGAGTTAC TTGAACCCGGGAAGCGGAAGTTGCAGTGAGCCGAGATCGCGCCGCTGCAC TCCAGCCTGGGCAACAGGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAA GAGATTTAAATGTAACTCACATGGGCCAGATGTGGTGGGTCACACCTCTA ATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACCTGAGGTCAGGAG GTGGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATA CAAAAATTAGCCAGGCGTGGTGGTGCACGCCTCCATGTTTAGTTATCCCA GCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAG GTTGCAGTGACCTGGTATTGCA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0315 a0001c0003t0001g0315	1	446	0.0022	-671	c.-17 others(17): Show c.-17-2374_-17-1704del		PLIN3	ENSG00000105355.9	transcript	ENST00000221957.9	protein_coding	1/7						chr19	TogoVar
SDHA_chr5_213320_262082	259951	CCAGAGCA others(664): Show CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTG AGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAG AGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCT CCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCA TTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGC CTCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACC GTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCC GCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGT GAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGACA GAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGC ATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCG CCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTA CCGTGTGAGCTCCGCCTCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	266	0.0038	-671	c.35 others(11): Show c.3532_*4202del		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					2870		chr5	TogoVar
SIK3_chr11_116838402_117103428	117010053	GAAAAGGG others(664): Show GAAAAGGGTCACATGATCATCAAGGGGACGGTGGGAAGTGGCTTCTTCCT GGGAAGCCCAGTACCCAAAAAGCCTCTCCCAGACAGGCTTCCCCTCTTCC TTATTCACAATGGGCCCTCCTTCATGAAGATGAGAGAGGGAAGGAAAGAA AGGGCAGCAAATTAAGGCTCCAATGCATTCAGAATTTACTCTTTCCCATT CTCCCATTCCAAATACCTATAGCACTTTCAGCATGAGTAATGAAGGTTTT AGAGATTCTTCTCTGCAAAACAATGGGTGGGGTGGGCAGAAAAGTGTGAC TTCCCCAGTCCTGGAATAAAAGCTGTGACAGGTATCCCCCATGTGGAGAG CACCGATAAGCCAGGGAGGACTAGGATGCTGTGTTCTCATGGGTATTGGG GGTGACCAGTACAAGGCCTGCTGAGGGTACTCAAATCTGACTTTCCTTTT TTCTGTGCCTAAACCACCTACATCACCAGGGTTGTGTCAGTTTACTGTGG GACTCTTCTCTGCTGGCTTATCAGGCTGTATGGCCACCATGCTCCCAGTC CCTGCCACCATGGCCTTGGTCCTCTTTAATTTTTCCTTTAAGTATTTAAG TGCTATTTCCTGGGGAGGAAGGTCAAAGTAAATAACCCCACTTCATTAAA ATGACTGAGTCTTAATTAAAGC	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18947.hp1 NA18951.hp2 others(3): Show NA18944.hp1 NA18947.hp1 NA18951.hp2 NA18979.hp1 NA18998.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0290 others(3): Show a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0290 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0295	6	366	0.0164	-671	c.274 others(19): Show c.274-53660_274-52990del		SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24						chr11	TogoVar

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