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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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	status	chr	external
DYNC2H1_chr11_103104426_103484863	103303254	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	262	0.0038	0	c.112 others(7): Show c.11256+1G>T		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	76/88					chr11	TogoVar
DYNLT4_chr1_44800893_44812351	44806783	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	392	0.0026	0	c.-12 others(5): Show c.-12+1G>A		DYNLT4	ENSG00000188396.4	transcript	ENST00000339355.3	protein_coding	2/2					chr1	TogoVar
DYNLT5_chr1_66747459_66784047	66776404	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00323.hp2 HG00544.hp1 others(52): Show HG00099.hp2 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG01070.hp2 HG01168.hp1 HG01517.hp1 HG02055.hp1 HG02080.hp2 HG02083.hp2 HG02165.hp2 HG02280.hp1 HG02523.hp2 HG02818.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG03942.hp2 NA18948.hp1 NA18950.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18999.hp2 NA19012.hp1 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0010 a0003c0003t0021 a0003c0003t0002 a0003c0003t0010 a0003c0003t0021	a0003c0003t0002g0007 a0003c0003t0002g0011 a0003c0003t0002g0012 others(30): Show a0003c0003t0002g0007 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0023 a0003c0003t0002g0026 a0003c0003t0002g0037 a0003c0003t0002g0040 a0003c0003t0002g0043 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0089 a0003c0003t0002g0090 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0101 a0003c0003t0002g0102 a0003c0003t0002g0109 a0003c0003t0002g0113 a0003c0003t0002g0124 a0003c0003t0002g0132 a0003c0003t0002g0161 a0003c0003t0002g0164 a0003c0003t0010g0011 a0003c0003t0010g0096 a0003c0003t0010g0097 a0003c0003t0021g0095	55	402	0.1368	0	c.336 others(5): Show c.336+1G>A		DYNLT5	ENSG00000152760.10	transcript	ENST00000282670.7	protein_coding	4/4					chr1	TogoVar
DZIP1_chr13_95573202_95649706	95644375	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0011 a0001c0001t0038g0011	1	382	0.0026	0	c.-52 others(6): Show c.-526+2T>A		DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding	1/22					chr13	TogoVar
E2F2_chr1_23501438_23536233	23530541	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0032 a0002c0002t0016g0032	1	396	0.0025	0	c.252 others(5): Show c.252+1G>T		E2F2	ENSG00000007968.7	transcript	ENST00000361729.3	protein_coding	1/6					chr1	TogoVar
EBP_chrX_48516808_48533716	48527283	TG TG	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18968.hp2 NA18968.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0047 a0004c0007t0001g0047	1	311	0.0032	-1	c.469 others(6): Show c.469+1delG		EBP	ENSG00000147155.11	transcript	ENST00000495186.6	protein_coding	4/4				INFO_REALIGN_3_PRIME	chrX	TogoVar
ECEL1_chr2_232474827_232492834	232487718	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	438	0.0023	0	c.-10 others(6): Show c.-102+1G>C		ECEL1	ENSG00000171551.12	transcript	ENST00000304546.6	protein_coding	1/17					chr2	TogoVar
ECT2L_chr6_138791087_138909070	138882871	GGTAAATG others(7): Show GGTAAATGAGTTTCA	G G	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	HG00558.hp2 HG00621.hp1 HG03710.hp1 others(4): Show HG00558.hp2 HG00621.hp1 HG03710.hp1 NA18980.hp1 NA18983.hp2 NA19011.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0109 a0001c0001t0001g0165 a0001c0001t0001g0266 others(4): Show a0001c0001t0001g0109 a0001c0001t0001g0165 a0001c0001t0001g0266 a0001c0001t0001g0293 a0001c0001t0004g0144 a0001c0001t0006g0256 a0002c0002t0001g0162	7	326	0.0215	-14	c.202 others(28): Show c.2028+1_2028+14delGTAAATGAGTTTCA		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	16/21					chr6	TogoVar
EDDM13_chr19_56267748_56315454	56282492	GCTGAAAG others(294): Show GCTGAAAGGTAAGCTTCTCATTCCATCTCTTTCCCTTTGGGGTCTGTTTG CCTTTGTCCAAAAGGGATCATTGCTGCTGAACTTCGACTTACGTTTCTTC TCTGGTCTGTTCACAGCTTAGCTTCTAATAGCGGAACTAGTAAAACCAAG TGTGGAATTGTCCTTTGATGAACAACAACAACAACAAAAGCCCTTTTACT TGTCTCCCCTCAAAGCCACTTGTCCAGAAACTGAGCACTCTTTCATGGTC CGCACATGGCTCAAGGAAAGCTATTAGGTCTGAGAGCTCAATTCAGGTCT AC	G G	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18956.hp2 NA18956.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0291 a0004c0008t0001g0291	1	396	0.0025	-301	c.116 others(11): Show c.116_118+298del	p.Lys others(17): Show p.Lys39_Gly40delinsArg	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	4/15	203/879	116/486	39/161	INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56290059	GTGGTTTC others(4278): Show GTGGTTTCCCCAAACTGGCTAATTATCTGAAACTTTTTCAAAAAGACAGA TTTCTTTGTTCTACCTGGACCTTCTGCATGAGAATACCAAGGGGTGGGTC CCAGGAATCTGTCCTTTCAAAAGGTTTCTCAGGTGCTTCTGATGGTTTGG CTCAGATGGTTTGAGAACTACTGAGATAAAGTAGGACTCAGCAGAAAGGC CCACTGCTTGTTTTTATAAATAAAGTTTTACTGACACACAATCACACCCA TTCATTTAGGTATTATTTGTAGTTGTCTTTGTGCTCTAATGGCAGAGCTG CATAGTTGTGACTGGGGCCATGTGGCCTGCAAAGCCTACACTATTTACTG TCTGACCCTTTAGAGGTCAGACATTTATTGACCTCTGAGCTAGAGCAGTG CTTCTCAGGGTCTTTGTTTAAAATTAGGGCCTAGGACCCTACTTCATATC TAAAGAAGGAGGATGTCTGTGATGGAACTCTAAGCTCTTGAGTTTGCTTC CCAAATGGTGATTCTTTGGGTTGGACACGGTGGCTCATGCCTATAATCCC AGCACTTTGGGAGGCTGTGGTGGGAGGAAGGCTTGAGCCCAGGAGTTTAA GATCAGCCTGGGCAACATAGGAAGACCCCCTTCTCTATGAAATATAAATA CATAAACAGTTTAAAATAGTTTTACGATATTGAATGGAGGAATAATTGAA TGTCCTATACTGCTGATTCTATTCTCTTGCTCACTCTTCTCCACACTGAC TCCCCGAATGCTGGTTCTGCTACTTCCTCCAGTAAAAAGTAAGTTATTTT TCCTTTCCTATGGGTCACTTGGAAGTTTTCAGGTGCTGGGAAGAAGAGGC AACTATCCAAAGAAGGGAATCTTTGGATAGTTCTTCTCAATGTAGAACAC AAGTTGAGAGGGACCCTCCATCTGCTGCTCCCCTCTCTGAAGGGGTTTCA GGGTGGGCTGCAAGCCCCAGATTGTGTGGAGAGCCGTGAGGGTGTGTCTG GGATACGGTGGGTCTGGGGCTACATGCAGGACTGAGTATGTGAGCCCTTG GCATATCACGTCCCCGAGCTCACAGGACCGTTGCCCCAGAAGACAAGAAA GCATTGAGTTGTACATATTTGTTGGGAGGGCCATTGAGAAGAGAACCAAA GAGGGGCACCTTGCTCCTTCCTCAAGCTCCCTCCTGACCCTCGGGGGAGA AATGAGAGAGAACCCTGGAGACTCAAAGGGATGCTCTAGTATCTTCCTAA TCTCTGGAAGATGAATCCCCACGGAAACTGAATACCTGGGGCTTCTGTCC ACCTGGATTAATGCGTCTCTAAAGGAGTAAAGTCTCAAAGAAGCATCTCG AGTCACCCACCCTGGGCCCCAGCCTATCGCATTAATCTGGAAGACACTTT ATTTCTCTTTTTTGGGAAGATCTGTTTTGAGAACCACAGGGTGGGAGGAG CTAGGAAGAAGGCGTTATTAATTTCTTCCTTTTCCTCTCCTCTCCTTCCT TCCTTCCTCCACTGCTGCCCAACAATGCCCACTGGATCTTCTGCTCCTGG CATCTCATCTCAACAGCACTGAAACCTAAGAGTCTTGTTTCACATTTGAC CCCTTCTGTTTTGCTCCTGTTCTCATCTCTGCCAAGGGAGGTCCACTCTT AGCCATGGATCAACTCTCAGCTTTTGACCATCTTTTTTTTTTAAACTCAA GAACTGGGAAAAAATAGCTATATTACCATCATCTTCAAATAGATGGGATG TCTCATGGAAACCAATCCCTCCTCGAATCAGGCATTCATGTAATGCCATG ATGAGGATGGTGATGACAGTGATGGAAATTTACAAAGAGCTTTCTAGGTG CCAGGCGCGAGGCACCAGAGCAGCACTTTTCAATGTGTTATGTGTAGTTA TTCCCCACAACTTCTTCACAAGGCAAGTATTATTCATCTGCACTTGACTG AGGTATAAAGGTTAGGTAACTAGATCAAGACTGGGCATCCCAGTGGTGAC GGTGGGTTACGGATCCTGGGCTGCGTGACTCAGCTGCTTAACCACGGTGC TGTGCTTCCTCCCACTGCTGTGTGGCTCAGACTTATTTTCCCCAAGAACA TCTCTGACCATTTCATCATGCTGTTCCCTGAAAAAGTCACTGTTTGCCAC ATGTGGGTAACATACATCTTTTAAAAAGTCTTGAAATTGTAGTAAAATAT ACAAAACATGAAATTTACCATTGTAACTTGTTTTCATTTTTTAGAGACAG GATCTTGCTCTGTTGTCCAGGCTGGAGCACAGTGGTGCAGACCTCCTGGG CTCAAGCGATCCTTCTTTCTTAGCCTCCTGAGGAACTGGGACTACAGGTG TGCATCATCACACCTAGCTAATTATTTTTGGTTTTTTTGTCTGTTTTTAC TTTTTTTTTTTTTACTTTTTTGTTTTGCTTTGTTGCCAAGGCTGGTCTTC AATTCCGGGGCTCAAGCAATCCTCCTACCTCAGCCTCCCAAAGCACTGGG ATCACAGGCACGAGCCACTGCACCCACCTTAACCACTTTAAAGTGTGCGA TTTAGTGGCCCTTGGTACACACACAATGGTGTGCAACCATCACCACTGAC TCCAGAACTTTATAATCACTGCCCCACCAAAAAAAAAGTACCCATTAAAC AGTCAGTCCCCATTCTCCCTCTGACCTCAGCCCCGGCAACCACCATTTCA CTTTCTGTCTCTGCAAGTTTGAGGATTCTAGGTACCTCATAGAAGTAGAA TCGTACACGATGTGGTCTTTTGTGTCTGGCTTCATCACTCAGCACAGTGT CCTCAAGGTTCAGCCACATTGTGGCCTGTGACAGTGCTTCACTCCTTTTC ATGGCTGAGCAATACTCCATTGCATGGATAGACTGCATTTTTTAATCCAA TCATCCACTGATTGAATTTTGGGTTGATTCTACCTTTCGGCTGAGGACAC ACTCTTCTTTTGGTCCACATTCAAAGCCATCTAAACCCCAGTTCTGAGAC ACCATCCTGTCCATGCCCCACACCCACCTCCAAACCCCACTTCTATGCAG CTTGAGCCTCAGTGAAACCCAAGACATCCTGATCTGAAAAAACAAATTGA AAAATGGTATCCTGCAGCTCAAGAGCACGTTCTGGGTACCAGGCATGGTT GTTAAGTGCTTGACTCATGACAGTCCCCAAGTCATCGTCCTTGTTTTACA ACTGAAAACACTGTGGTAAGAGAGGGAGAGTCGCTTGCTCATGGTCACAC AGCCAGTCAGGTGCAGAGAATAACTTAAGCCCAGTCTGGATCCCAAACGG TGCTATTAAACAATGCAAACTCAAAAGTGTTCAAAGCGGCTCAGACTAAC GAGGTCCCTGCCTCATCCCTACACTGGAAGTATTATCATTATAATTGTAT GTTGTATATATTGTAAGGAAGATAAAATTATGCTAAGAAAGGGAAAGAGG AACTGGCAGAGAGTGTGCACTGTGGGCGCCGGTCCTGACTGCACCACTTT CTAGTTCCGTGGGCTTCGGACCCTCGCCTCCTGAAGGGCTCAGGCCCCTG GTCGGTACAATGCACATAATAGTTCCAGCCTCATATGGTTGTGAGGAGTA AACAGGATCATGCACTTGGCAGGATGATTCCCAATTGGGGAGATTTCGCC CCTCAGGGGACACCTGGCAATGCCTAGAGATATTTTTGGTTGTGAGGACT CAGGGAGGTGGTAGGGGAGGCTAACGGCATCTAATGGGGGGAGTCTCGAG ATGTTGCTACACATCCTACAATGCACAGGACACCCCACCCCCACAACAAA AAAACTATCCAGCCCCAAATGTCACTCGTCTGGAGGTTGAGAAACCCCCC GCTGAATAAAATGTCTGGCACGGGATAAGAGCTCAGCAAGGGTCTGTGAG GACCACCTCATTTACCTTTGTTCTGAACACTCCCATGTCTGCAGGAGGCC CCTCTGCCTTGCTCCTTTCGCTCCTTTTCCCAGGCCCTTCTCCAGCCTCC GTCCTCATGCTGCACTGACAGCACTTTGCAAACTGAAAGCAGACCCAGCA GGAAAATCCCAAACACCTGCCTAAGGGCCCACCAGGTGCCAAGCAGACCC AGCCCTGCTCCAGTAACGAGCAAAAGCCAAACCCAGCAGGAAAATCCCAA ACACCTGCCTAAGGGCCCACCAGGTGCCAAGCTCTGTACTGGGCGATTCA CGTGGGCTCTTTCTCCCGGACCCTCACATTAACCCAGGATGCAAGTGGTT CGGTGGAGACAGCCTGAGTTTTAAGGCAAAGAGGCC	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19004.hp2 NA19004.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0097 a0005c0006t0001g0097	1	396	0.0025	-4285	c.227 others(16): Show c.227-778_233-1612del		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	9/15				INFO_REALIGN_3_PRIME	chr19	TogoVar
EFCAB2_chr1_244964682_245092837	244970444	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19077.hp2 NA19081.hp1 NA19077.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0117 a0001c0002t0002g0118	2	290	0.0069	0	c.25+ others(4): Show c.25+1G>A		EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7					chr1	TogoVar
EFCAB3_chr17_62375553_62421480	62395190	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18522.hp1 NA18906.hp1 NA19240.hp1 NA18522.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117	3	368	0.0082	0	c.488 others(5): Show c.488+2T>C		EFCAB3	ENSG00000172421.10	transcript	ENST00000305286.8	protein_coding	6/9					chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29941839	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	248	0.0040	0	c.42+ others(4): Show c.42+1G>A		EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	1/22					chr17	TogoVar
EFCC1_chr3_128996304_129045742	129037119	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	354	0.0028	0	c.159 others(6): Show c.1593+2T>C		EFCC1	ENSG00000114654.8	transcript	ENST00000683648.1	protein_coding	6/7					chr3	TogoVar
EFHC2_chrX_44142872_44348672	44242119	AC AC	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19055.hp1 NA19055.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0016 a0011c0013t0016	a0011c0013t0016g0157 a0011c0013t0016g0157	1	221	0.0045	-1	c.128 others(7): Show c.1280+1delG		EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	8/14					chrX	TogoVar
EIF4EBP2_chr10_70399145_70433618	70404547	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	422	0.0024	0	c.145 others(5): Show c.145+1G>A		EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2					chr10	TogoVar
ELMO2_chr20_46361050_46411615	46375666	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	312	0.0032	0	c.930 others(5): Show c.930+2T>C		ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding	12/21					chr20	TogoVar
ELN_chr7_74023173_74074907	74053290	CCCAGGTG others(8): Show CCCAGGTGCTGCGGTT	C C	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA19012.hp1 NA19012.hp1	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0001 a0015c0014t0001	a0015c0014t0001g0060 a0015c0014t0001g0060	1	366	0.0027	-15	c.108 others(26): Show c.1085_1096+3delCTGCGGTTCCAGGTG	p.Ala others(13): Show p.Ala362_Pro365del	ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding	18/33	1100/3397	1085/2175	362/724	INFO_REALIGN_3_PRIME	chr7	TogoVar
ENPP1_chr6_131803020_131900155	131852236	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	292	0.0034	0	c.617 others(5): Show c.617+1G>T		ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	5/24					chr6	TogoVar
ENPP7_chr17_79725943_79747219	79733655	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01175.hp2 HG01943.hp2 HG01952.hp1 others(2): Show HG01175.hp2 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02300.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0056 a0002c0001t0001g0141 a0002c0001t0001g0149 others(1): Show a0002c0001t0001g0056 a0002c0001t0001g0141 a0002c0001t0001g0149 a0002c0001t0001g0173	5	430	0.0116	0	c.399 others(5): Show c.399+2T>C		ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	2/5					chr17	TogoVar
EOLA2_chrX_149927197_149943491	149933620	A A	AC AC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19090.hp2 NA19090.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0060 a0004c0005t0004g0060	1	331	0.0030	1	c.253 others(6): Show c.253+1dupG		EOLA2	ENSG00000197021.9	transcript	ENST00000370406.8	protein_coding	4/4					chrX	TogoVar
EOLA2_chrX_149927197_149943491	149937432	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	331	0.0030	0	c.-16 others(6): Show c.-163+1G>A		EOLA2	ENSG00000197021.9	transcript	ENST00000370406.8	protein_coding	2/4					chrX	TogoVar
ERAP1_chr5_96769484_96812945	96800861	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0112 a0005c0005t0001g0154 a0005c0005t0001g0112 a0005c0005t0001g0154	2	416	0.0048	0	c.663 others(5): Show c.663+1G>A		ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding	3/18					chr5	TogoVar
ERICH6_chr3_150654885_150708920	150682217	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0090 a0002c0001t0001g0090	1	348	0.0029	0	c.882 others(5): Show c.882+1G>C		ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	7/13					chr3	TogoVar
ESPNL_chr2_238095340_238138287	238100715	T T	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0041 a0001c0018t0001g0041	1	408	0.0025	0	c.294 others(5): Show c.294+2T>A		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	1/8					chr2	TogoVar
ESYT3_chr3_138429616_138484925	138476493	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02735.hp2 HG02735.hp2	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0178 a0012c0020t0001g0178	1	338	0.0030	0	c.262 others(6): Show c.2624+1G>T		ESYT3	ENSG00000158220.14	transcript	ENST00000389567.9	protein_coding	22/22					chr3	TogoVar
ETFBKMT_chr12_31654688_31678114	31662268	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0117 a0001c0001t0006g0128 a0001c0001t0006g0117 a0001c0001t0006g0128	2	452	0.0044	0	c.314 others(5): Show c.314+1G>A		ETFBKMT	ENSG00000139160.13	transcript	ENST00000357721.3	protein_coding	2/3					chr12	TogoVar
ETV3L_chr1_157087043_157104808	157097867	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0102 a0002c0005t0001g0102	1	464	0.0022	0	c.607 others(5): Show c.607+1G>A		ETV3L	ENSG00000253831.3	transcript	ENST00000454449.3	protein_coding	4/4					chr1	TogoVar
F12_chr5_177397141_177414564	177404498	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	454	0.0022	0	c.800 others(5): Show c.800+1G>C		F12	ENSG00000131187.11	transcript	ENST00000253496.4	protein_coding	8/13					chr5	TogoVar
FAAP20_chr1_2184548_2199772	2194687	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	392	0.0026	0	c.62+ others(4): Show c.62+1G>A		FAAP20	ENSG00000162585.17	transcript	ENST00000378546.9	protein_coding	1/3					chr1	TogoVar
FAM166A_chr9_137238599_137252751	137245305	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(415): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0005 others(22): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0001c0012 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0001c0021 a0001c0022 a0001c0024 a0002c0003 a0003c0004 a0003c0019 a0004c0007 a0005c0009 a0006c0008 a0007c0025 a0008c0023 a0009c0020 a0010c0015 a0011c0013 a0012c0011	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(22): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0010t0001 a0001c0012t0001 a0001c0014t0001 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0021t0001 a0001c0022t0001 a0001c0024t0001 a0002c0003t0001 a0003c0004t0001 a0003c0019t0001 a0004c0007t0001 a0005c0009t0001 a0006c0008t0001 a0007c0025t0001 a0008c0023t0001 a0009c0020t0001 a0010c0015t0001 a0011c0013t0001 a0012c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(68): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0036 a0001c0002t0001g0052 a0001c0002t0001g0070 a0001c0005t0001g0013 a0001c0005t0001g0061 a0001c0006t0001g0018 a0001c0006t0001g0050 a0001c0010t0001g0026 a0001c0012t0001g0058 a0001c0014t0001g0034 a0001c0016t0001g0037 a0001c0017t0001g0063 a0001c0018t0001g0039 a0001c0021t0001g0044 a0001c0022t0001g0049 a0001c0024t0001g0069 a0002c0003t0001g0003 a0002c0003t0001g0059 a0003c0004t0001g0005 a0003c0004t0001g0064 a0003c0019t0001g0040 a0004c0007t0001g0021 a0004c0007t0001g0071 a0005c0009t0001g0025 a0006c0008t0001g0038 a0006c0008t0001g0068 a0007c0025t0001g0045 a0008c0023t0001g0066 a0009c0020t0001g0041 a0010c0015t0001g0033 a0011c0013t0001g0031 a0012c0011t0001g0057	418	418	1.0000	0	c.522 others(5): Show c.522+2C>T		FAM166A	ENSG00000188163.8	transcript	ENST00000344774.6	protein_coding	3/6					chr9	TogoVar
FAM170B_chr10_49126154_49139021	49133805	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	390	0.0026	0	c.112 others(5): Show c.112+2T>C		FAM170B	ENSG00000172538.7	transcript	ENST00000311787.6	protein_coding	1/1					chr10	TogoVar
FAM219A_chr9_34393184_34463570	34402703	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0358 a0001c0004t0003g0358	1	396	0.0025	0	c.263 others(5): Show c.263+2T>A		FAM219A	ENSG00000164970.15	transcript	ENST00000651358.1	protein_coding	3/5					chr9	TogoVar
FAM47E_chr4_76246721_76288783	76263844	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02280.hp1 HG02572.hp1 HG02622.hp2 others(6): Show HG02280.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0053 a0003c0003t0001g0032 a0003c0003t0001g0071 others(3): Show a0002c0002t0001g0053 a0003c0003t0001g0032 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0203 a0003c0003t0001g0204	9	392	0.0230	0	c.560 others(5): Show c.560+1G>A		FAM47E	ENSG00000189157.14	transcript	ENST00000424749.7	protein_coding	3/7					chr4	TogoVar
FAM47E_chr4_76246721_76288783	76263844	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18957.hp2 NA19063.hp2 NA19067.hp2 others(1): Show NA18957.hp2 NA19063.hp2 NA19067.hp2 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0074 a0002c0002t0001g0140 a0002c0002t0001g0035 a0002c0002t0001g0074 a0002c0002t0001g0140	4	392	0.0102	0	c.560 others(5): Show c.560+1G>C		FAM47E	ENSG00000189157.14	transcript	ENST00000424749.7	protein_coding	3/7					chr4	TogoVar
FAM86B1_chr8_12177106_12199082	12189807	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00323.hp2 HG00423.hp1 HG00558.hp2 others(52): Show HG00323.hp2 HG00423.hp1 HG00558.hp2 HG01069.hp1 HG01099.hp1 HG01346.hp2 HG01515.hp2 HG01975.hp1 HG02015.hp1 HG02300.hp1 HG02523.hp2 HG02735.hp2 HG03139.hp1 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 NA18940.hp2 NA18945.hp1 NA18947.hp2 NA18959.hp1 NA18961.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18984.hp1 NA18985.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19082.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0005 a0001c0015 others(4): Show a0001c0001 a0001c0005 a0001c0015 a0001c0023 a0002c0017 a0007c0016 a0007c0020	a0001c0001t0002 a0001c0005t0002 a0001c0005t0013 others(7): Show a0001c0001t0002 a0001c0005t0002 a0001c0005t0013 a0001c0005t0016 a0001c0005t0017 a0001c0015t0007 a0001c0023t0001 a0002c0017t0002 a0007c0016t0002 a0007c0020t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 others(39): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0036 a0001c0001t0002g0048 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0141 a0001c0005t0002g0018 a0001c0005t0002g0074 a0001c0005t0002g0110 a0001c0005t0002g0111 a0001c0005t0002g0112 a0001c0005t0002g0118 a0001c0005t0002g0120 a0001c0005t0013g0077 a0001c0005t0016g0109 a0001c0005t0017g0107 a0001c0015t0007g0010 a0001c0023t0001g0072 a0002c0017t0002g0039 a0002c0017t0002g0121 a0007c0016t0002g0073 a0007c0020t0002g0079	55	176	0.3125	0	c.240 others(5): Show c.240+1G>A		FAM86B1	ENSG00000186523.15	transcript	ENST00000448228.7	protein_coding	3/6					chr8	TogoVar
FAM90A10_chr8_7763977_7776988	7770362	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00280.hp2 HG00438.hp1 others(41): Show HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG01099.hp1 HG01109.hp2 HG01258.hp2 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02273.hp2 HG03130.hp1 HG03130.hp2 HG03491.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18962.hp2 NA18975.hp1 NA18982.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA19000.hp2 NA19004.hp2 NA19010.hp2 NA20752.hp2	a0003 a0005 a0007 others(16): Show a0003 a0005 a0007 a0008 a0010 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0037 a0044	a0003c0003 a0005c0005 a0007c0008 others(18): Show a0003c0003 a0005c0005 a0007c0008 a0008c0021 a0008c0022 a0010c0027 a0010c0028 a0017c0020 a0018c0026 a0019c0024 a0020c0025 a0021c0023 a0022c0035 a0023c0029 a0024c0034 a0025c0033 a0026c0032 a0027c0030 a0028c0031 a0037c0019 a0044c0049	a0003c0003t0000 a0005c0005t0000 a0007c0008t0000 others(18): Show a0003c0003t0000 a0005c0005t0000 a0007c0008t0000 a0008c0021t0000 a0008c0022t0000 a0010c0027t0000 a0010c0028t0000 a0017c0020t0000 a0018c0026t0000 a0019c0024t0000 a0020c0025t0000 a0021c0023t0000 a0022c0035t0000 a0023c0029t0000 a0024c0034t0000 a0025c0033t0000 a0026c0032t0000 a0027c0030t0000 a0028c0031t0000 a0037c0019t0000 a0044c0049t0000	a0003c0003t0000g0001 a0003c0003t0000g0028 a0005c0005t0000g0004 others(19): Show a0003c0003t0000g0001 a0003c0003t0000g0028 a0005c0005t0000g0004 a0007c0008t0000g0001 a0008c0021t0000g0009 a0008c0022t0000g0009 a0010c0027t0000g0014 a0010c0028t0000g0014 a0017c0020t0000g0027 a0018c0026t0000g0001 a0019c0024t0000g0001 a0020c0025t0000g0001 a0021c0023t0000g0029 a0022c0035t0000g0039 a0023c0029t0000g0037 a0024c0034t0000g0004 a0025c0033t0000g0038 a0026c0032t0000g0033 a0027c0030t0000g0004 a0028c0031t0000g0004 a0037c0019t0000g0016 a0044c0049t0000g0001	44	127	0.3465	0	c.432 others(5): Show c.432+2T>C		FAM90A10	ENSG00000285950.1	transcript	ENST00000533716.2	protein_coding	3/3					chr8	TogoVar
FAM90A14_chr8_7710443_7723453	7716828	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0000 a0002c0003t0000	a0002c0003t0000g0002 a0002c0003t0000g0002	1	6	0.1667	0	c.432 others(5): Show c.432+2C>G		FAM90A14	ENSG00000285814.1	transcript	ENST00000648315.1	protein_coding	3/3					chr8	TogoVar
FAM90A14_chr8_7710443_7723453	7716828	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0000 a0003c0004t0000	a0003c0004t0000g0004 a0003c0004t0000g0004	1	6	0.1667	0	c.432 others(5): Show c.432+2C>T		FAM90A14	ENSG00000285814.1	transcript	ENST00000648315.1	protein_coding	3/3					chr8	TogoVar
FAM90A16_chr8_7725739_7738749	7732124	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00558.hp1 HG00558.hp2 HG00673.hp1 others(52): Show HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02451.hp2 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02896.hp2 HG03017.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18971.hp1 NA18971.hp2	a0001 a0002 a0003 others(26): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0033 a0034 a0035 a0039	a0001c0003 a0001c0006 a0001c0029 others(30): Show a0001c0003 a0001c0006 a0001c0029 a0002c0002 a0002c0034 a0003c0001 a0004c0004 a0004c0025 a0005c0005 a0006c0007 a0008c0009 a0012c0017 a0013c0018 a0014c0013 a0015c0014 a0016c0016 a0017c0015 a0018c0042 a0019c0024 a0020c0027 a0021c0026 a0022c0037 a0023c0036 a0024c0030 a0025c0035 a0026c0033 a0027c0032 a0028c0031 a0029c0028 a0033c0038 a0034c0023 a0035c0020 a0039c0043	a0001c0003t0000 a0001c0006t0000 a0001c0029t0000 others(30): Show a0001c0003t0000 a0001c0006t0000 a0001c0029t0000 a0002c0002t0000 a0002c0034t0000 a0003c0001t0000 a0004c0004t0000 a0004c0025t0000 a0005c0005t0000 a0006c0007t0000 a0008c0009t0000 a0012c0017t0000 a0013c0018t0000 a0014c0013t0000 a0015c0014t0000 a0016c0016t0000 a0017c0015t0000 a0018c0042t0000 a0019c0024t0000 a0020c0027t0000 a0021c0026t0000 a0022c0037t0000 a0023c0036t0000 a0024c0030t0000 a0025c0035t0000 a0026c0033t0000 a0027c0032t0000 a0028c0031t0000 a0029c0028t0000 a0033c0038t0000 a0034c0023t0000 a0035c0020t0000 a0039c0043t0000	a0001c0003t0000g0005 a0001c0003t0000g0011 a0001c0003t0000g0027 others(42): Show a0001c0003t0000g0005 a0001c0003t0000g0011 a0001c0003t0000g0027 a0001c0003t0000g0028 a0001c0006t0000g0007 a0001c0006t0000g0025 a0001c0029t0000g0005 a0002c0002t0000g0001 a0002c0002t0000g0002 a0002c0002t0000g0044 a0002c0034t0000g0001 a0003c0001t0000g0001 a0003c0001t0000g0034 a0004c0004t0000g0003 a0004c0004t0000g0020 a0004c0004t0000g0022 a0004c0025t0000g0024 a0005c0005t0000g0001 a0005c0005t0000g0004 a0006c0007t0000g0002 a0006c0007t0000g0035 a0006c0007t0000g0036 a0008c0009t0000g0001 a0012c0017t0000g0033 a0013c0018t0000g0001 a0014c0013t0000g0001 a0015c0014t0000g0001 a0016c0016t0000g0004 a0017c0015t0000g0001 a0018c0042t0000g0045 a0019c0024t0000g0012 a0020c0027t0000g0021 a0021c0026t0000g0026 a0022c0037t0000g0010 a0023c0036t0000g0006 a0024c0030t0000g0006 a0025c0035t0000g0004 a0026c0033t0000g0001 a0027c0032t0000g0003 a0028c0031t0000g0029 a0029c0028t0000g0043 a0033c0038t0000g0009 a0034c0023t0000g0031 a0035c0020t0000g0041 a0039c0043t0000g0032	55	70	0.7857	0	c.432 others(5): Show c.432+2T>C		FAM90A16	ENSG00000285620.1	transcript	ENST00000648174.1	protein_coding	3/3					chr8	TogoVar
FAM90A17_chr8_7741034_7754044	7747419	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00558.hp1 others(73): Show HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00558.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02896.hp2 HG03017.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18943.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18991.hp1 NA18998.hp1 NA19043.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0005 others(21): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0018 a0019 a0021 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0037 a0038	a0001c0001 a0001c0015 a0002c0005 others(26): Show a0001c0001 a0001c0015 a0002c0005 a0002c0012 a0002c0029 a0002c0049 a0005c0004 a0006c0006 a0006c0023 a0007c0008 a0008c0007 a0009c0010 a0010c0013 a0011c0017 a0012c0014 a0013c0016 a0014c0011 a0018c0037 a0019c0036 a0021c0026 a0024c0033 a0025c0028 a0026c0030 a0027c0032 a0028c0031 a0029c0027 a0030c0034 a0037c0038 a0038c0048	a0001c0001t0000 a0001c0015t0000 a0002c0005t0000 others(26): Show a0001c0001t0000 a0001c0015t0000 a0002c0005t0000 a0002c0012t0000 a0002c0029t0000 a0002c0049t0000 a0005c0004t0000 a0006c0006t0000 a0006c0023t0000 a0007c0008t0000 a0008c0007t0000 a0009c0010t0000 a0010c0013t0000 a0011c0017t0000 a0012c0014t0000 a0013c0016t0000 a0014c0011t0000 a0018c0037t0000 a0019c0036t0000 a0021c0026t0000 a0024c0033t0000 a0025c0028t0000 a0026c0030t0000 a0027c0032t0000 a0028c0031t0000 a0029c0027t0000 a0030c0034t0000 a0037c0038t0000 a0038c0048t0000	a0001c0001t0000g0001 a0001c0001t0000g0002 a0001c0001t0000g0003 others(50): Show a0001c0001t0000g0001 a0001c0001t0000g0002 a0001c0001t0000g0003 a0001c0001t0000g0007 a0001c0001t0000g0008 a0001c0001t0000g0015 a0001c0001t0000g0016 a0001c0001t0000g0017 a0001c0001t0000g0038 a0001c0001t0000g0039 a0001c0001t0000g0042 a0001c0001t0000g0043 a0001c0001t0000g0047 a0001c0001t0000g0049 a0001c0015t0000g0003 a0002c0005t0000g0012 a0002c0005t0000g0022 a0002c0005t0000g0035 a0002c0012t0000g0012 a0002c0012t0000g0037 a0002c0029t0000g0033 a0002c0049t0000g0032 a0005c0004t0000g0002 a0006c0006t0000g0006 a0006c0006t0000g0027 a0006c0006t0000g0028 a0006c0023t0000g0006 a0007c0008t0000g0001 a0007c0008t0000g0018 a0007c0008t0000g0041 a0008c0007t0000g0002 a0008c0007t0000g0046 a0009c0010t0000g0006 a0010c0013t0000g0030 a0010c0013t0000g0034 a0011c0017t0000g0048 a0011c0017t0000g0059 a0012c0014t0000g0014 a0013c0016t0000g0003 a0013c0016t0000g0008 a0014c0011t0000g0013 a0018c0037t0000g0040 a0019c0036t0000g0044 a0021c0026t0000g0021 a0024c0033t0000g0001 a0025c0028t0000g0031 a0026c0030t0000g0058 a0027c0032t0000g0001 a0028c0031t0000g0018 a0029c0027t0000g0020 a0030c0034t0000g0007 a0037c0038t0000g0045 a0038c0048t0000g0029	76	108	0.7037	0	c.432 others(5): Show c.432+2T>C		FAM90A17	ENSG00000285720.1	transcript	ENST00000650426.1	protein_coding	3/3					chr8	TogoVar
FAM90A18_chr8_7718091_7731101	7724476	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00558.hp1 others(26): Show HG00099.hp1 HG00099.hp2 HG00558.hp1 HG00558.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01243.hp2 HG01258.hp2 HG01934.hp1 HG01934.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02486.hp2 HG02630.hp2 HG02647.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 NA18522.hp1 NA19043.hp2	a0001 a0003 a0004 others(18): Show a0001 a0003 a0004 a0005 a0006 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0026 a0027 a0028	a0001c0002 a0001c0017 a0003c0001 others(19): Show a0001c0002 a0001c0017 a0003c0001 a0004c0007 a0005c0006 a0006c0005 a0009c0010 a0010c0009 a0012c0026 a0013c0018 a0014c0024 a0015c0025 a0016c0023 a0017c0022 a0018c0020 a0019c0019 a0020c0021 a0021c0016 a0022c0027 a0026c0032 a0027c0014 a0028c0013	a0001c0002t0000 a0001c0017t0000 a0003c0001t0000 others(19): Show a0001c0002t0000 a0001c0017t0000 a0003c0001t0000 a0004c0007t0000 a0005c0006t0000 a0006c0005t0000 a0009c0010t0000 a0010c0009t0000 a0012c0026t0000 a0013c0018t0000 a0014c0024t0000 a0015c0025t0000 a0016c0023t0000 a0017c0022t0000 a0018c0020t0000 a0019c0019t0000 a0020c0021t0000 a0021c0016t0000 a0022c0027t0000 a0026c0032t0000 a0027c0014t0000 a0028c0013t0000	a0001c0002t0000g0004 a0001c0002t0000g0005 a0001c0017t0000g0030 others(24): Show a0001c0002t0000g0004 a0001c0002t0000g0005 a0001c0017t0000g0030 a0003c0001t0000g0003 a0003c0001t0000g0023 a0004c0007t0000g0007 a0004c0007t0000g0021 a0005c0006t0000g0024 a0005c0006t0000g0027 a0006c0005t0000g0002 a0006c0005t0000g0018 a0009c0010t0000g0003 a0010c0009t0000g0025 a0012c0026t0000g0004 a0013c0018t0000g0004 a0014c0024t0000g0029 a0015c0025t0000g0026 a0016c0023t0000g0007 a0017c0022t0000g0003 a0018c0020t0000g0002 a0019c0019t0000g0008 a0020c0021t0000g0002 a0021c0016t0000g0022 a0022c0027t0000g0002 a0026c0032t0000g0019 a0027c0014t0000g0011 a0028c0013t0000g0028	29	44	0.6591	0	c.432 others(5): Show c.432+2T>C		FAM90A18	ENSG00000285913.1	transcript	ENST00000647769.1	protein_coding	3/3					chr8	TogoVar
FAM90A19_chr8_7748682_7761692	7755067	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00423.hp1 HG00423.hp2 HG00558.hp1 others(70): Show HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02083.hp1 HG02083.hp2 HG02165.hp1 HG02165.hp2 HG02602.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03704.hp2 HG04115.hp1 HG04228.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18951.hp1 NA18951.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA19059.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0003 a0005 others(25): Show a0001 a0003 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0040 a0046	a0001c0001 a0001c0033 a0003c0003 others(26): Show a0001c0001 a0001c0033 a0003c0003 a0005c0005 a0006c0006 a0007c0007 a0009c0010 a0010c0011 a0011c0008 a0012c0009 a0014c0015 a0015c0014 a0016c0021 a0017c0022 a0018c0023 a0019c0024 a0020c0025 a0024c0037 a0025c0029 a0026c0036 a0027c0034 a0028c0035 a0029c0031 a0030c0032 a0031c0030 a0032c0038 a0033c0039 a0040c0047 a0046c0048	a0001c0001t0000 a0001c0033t0000 a0003c0003t0000 others(26): Show a0001c0001t0000 a0001c0033t0000 a0003c0003t0000 a0005c0005t0000 a0006c0006t0000 a0007c0007t0000 a0009c0010t0000 a0010c0011t0000 a0011c0008t0000 a0012c0009t0000 a0014c0015t0000 a0015c0014t0000 a0016c0021t0000 a0017c0022t0000 a0018c0023t0000 a0019c0024t0000 a0020c0025t0000 a0024c0037t0000 a0025c0029t0000 a0026c0036t0000 a0027c0034t0000 a0028c0035t0000 a0029c0031t0000 a0030c0032t0000 a0031c0030t0000 a0032c0038t0000 a0033c0039t0000 a0040c0047t0000 a0046c0048t0000	a0001c0001t0000g0002 a0001c0001t0000g0004 a0001c0001t0000g0005 others(48): Show a0001c0001t0000g0002 a0001c0001t0000g0004 a0001c0001t0000g0005 a0001c0001t0000g0007 a0001c0001t0000g0008 a0001c0001t0000g0011 a0001c0001t0000g0016 a0001c0001t0000g0039 a0001c0001t0000g0040 a0001c0001t0000g0041 a0001c0001t0000g0042 a0001c0001t0000g0043 a0001c0001t0000g0045 a0001c0001t0000g0047 a0001c0001t0000g0052 a0001c0001t0000g0059 a0001c0033t0000g0005 a0003c0003t0000g0003 a0003c0003t0000g0034 a0005c0005t0000g0002 a0005c0005t0000g0015 a0005c0005t0000g0048 a0005c0005t0000g0051 a0006c0006t0000g0002 a0007c0007t0000g0009 a0009c0010t0000g0008 a0010c0011t0000g0046 a0010c0011t0000g0058 a0011c0008t0000g0014 a0011c0008t0000g0023 a0012c0009t0000g0005 a0012c0009t0000g0007 a0014c0015t0000g0044 a0015c0014t0000g0002 a0016c0021t0000g0026 a0017c0022t0000g0036 a0018c0023t0000g0025 a0019c0024t0000g0019 a0020c0025t0000g0003 a0024c0037t0000g0035 a0025c0029t0000g0014 a0026c0036t0000g0049 a0027c0034t0000g0016 a0028c0035t0000g0004 a0029c0031t0000g0053 a0030c0032t0000g0050 a0031c0030t0000g0037 a0032c0038t0000g0024 a0033c0039t0000g0038 a0040c0047t0000g0015 a0046c0048t0000g0002	73	116	0.6293	0	c.432 others(5): Show c.432+2T>C		FAM90A19	ENSG00000285657.1	transcript	ENST00000647903.1	protein_coding	3/3					chr8	TogoVar
FAM90A23_chr8_7574644_7587653	7581269	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02976.hp2 HG02976.hp2	a0036 a0036	a0036c0016 a0036c0016	a0036c0016t0000 a0036c0016t0000	a0036c0016t0000g0037 a0036c0016t0000g0037	1	142	0.0070	0	c.432 others(5): Show c.432+2C>T		FAM90A23	ENSG00000285765.1	transcript	ENST00000648435.1	protein_coding	3/3					chr8	TogoVar
FAM90A7_chr8_7551700_7564712	7558326	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show HG01517.hp1 HG01517.hp2 HG02738.hp1 HG02738.hp2 HG03195.hp1 HG03195.hp2 HG03486.hp2 NA18952.hp1 NA18952.hp2 NA18998.hp1 NA18998.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0016 a0017	a0001c0001 a0002c0017 a0003c0002 others(11): Show a0001c0001 a0002c0017 a0003c0002 a0004c0003 a0005c0005 a0006c0004 a0007c0006 a0008c0007 a0009c0008 a0010c0011 a0011c0010 a0012c0009 a0016c0015 a0017c0016	a0001c0001t0000 a0002c0017t0000 a0003c0002t0000 others(11): Show a0001c0001t0000 a0002c0017t0000 a0003c0002t0000 a0004c0003t0000 a0005c0005t0000 a0006c0004t0000 a0007c0006t0000 a0008c0007t0000 a0009c0008t0000 a0010c0011t0000 a0011c0010t0000 a0012c0009t0000 a0016c0015t0000 a0017c0016t0000	a0001c0001t0000g0005 a0001c0001t0000g0011 a0002c0017t0000g0018 others(12): Show a0001c0001t0000g0005 a0001c0001t0000g0011 a0002c0017t0000g0018 a0003c0002t0000g0003 a0004c0003t0000g0012 a0005c0005t0000g0004 a0006c0004t0000g0002 a0007c0006t0000g0010 a0008c0007t0000g0006 a0009c0008t0000g0007 a0010c0011t0000g0001 a0011c0010t0000g0009 a0012c0009t0000g0008 a0016c0015t0000g0016 a0017c0016t0000g0017	15	18	0.8333	0	c.432 others(5): Show c.432+2T>C		FAM90A7	ENSG00000285975.1	transcript	ENST00000650288.1	protein_coding	3/3					chr8	TogoVar
FAM90A8_chr8_7733387_7746396	7739771	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00423.hp1 HG00423.hp2 HG00558.hp1 others(69): Show HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG01978.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02257.hp2 HG02451.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18942.hp2 NA18943.hp2 NA18959.hp2 NA18971.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA19010.hp1 NA19043.hp2 NA19077.hp1 NA19077.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0004 others(28): Show a0001 a0003 a0004 a0005 a0006 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0035 a0036 a0037 a0038 a0048	a0001c0001 a0003c0003 a0003c0006 others(29): Show a0001c0001 a0003c0003 a0003c0006 a0004c0004 a0005c0005 a0006c0007 a0010c0010 a0011c0011 a0012c0012 a0013c0018 a0014c0017 a0015c0015 a0016c0016 a0017c0014 a0018c0030 a0019c0032 a0020c0031 a0021c0039 a0022c0037 a0023c0040 a0024c0038 a0025c0041 a0026c0036 a0027c0034 a0028c0035 a0029c0033 a0030c0042 a0035c0044 a0036c0043 a0037c0050 a0038c0029 a0048c0051	a0001c0001t0000 a0003c0003t0000 a0003c0006t0000 others(29): Show a0001c0001t0000 a0003c0003t0000 a0003c0006t0000 a0004c0004t0000 a0005c0005t0000 a0006c0007t0000 a0010c0010t0000 a0011c0011t0000 a0012c0012t0000 a0013c0018t0000 a0014c0017t0000 a0015c0015t0000 a0016c0016t0000 a0017c0014t0000 a0018c0030t0000 a0019c0032t0000 a0020c0031t0000 a0021c0039t0000 a0022c0037t0000 a0023c0040t0000 a0024c0038t0000 a0025c0041t0000 a0026c0036t0000 a0027c0034t0000 a0028c0035t0000 a0029c0033t0000 a0030c0042t0000 a0035c0044t0000 a0036c0043t0000 a0037c0050t0000 a0038c0029t0000 a0048c0051t0000	a0001c0001t0000g0002 a0001c0001t0000g0003 a0001c0001t0000g0016 others(53): Show a0001c0001t0000g0002 a0001c0001t0000g0003 a0001c0001t0000g0016 a0001c0001t0000g0035 a0001c0001t0000g0036 a0001c0001t0000g0037 a0001c0001t0000g0038 a0001c0001t0000g0040 a0001c0001t0000g0046 a0001c0001t0000g0056 a0001c0001t0000g0061 a0003c0003t0000g0004 a0003c0003t0000g0009 a0003c0003t0000g0020 a0003c0003t0000g0023 a0003c0003t0000g0032 a0003c0003t0000g0043 a0003c0003t0000g0057 a0003c0006t0000g0004 a0003c0006t0000g0019 a0003c0006t0000g0042 a0004c0004t0000g0005 a0004c0004t0000g0027 a0004c0004t0000g0028 a0004c0004t0000g0029 a0005c0005t0000g0008 a0005c0005t0000g0060 a0006c0007t0000g0002 a0006c0007t0000g0012 a0010c0010t0000g0002 a0011c0011t0000g0010 a0012c0012t0000g0002 a0012c0012t0000g0048 a0013c0018t0000g0002 a0014c0017t0000g0059 a0015c0015t0000g0002 a0016c0016t0000g0002 a0017c0014t0000g0045 a0018c0030t0000g0017 a0019c0032t0000g0030 a0020c0031t0000g0004 a0021c0039t0000g0003 a0022c0037t0000g0058 a0023c0040t0000g0003 a0024c0038t0000g0034 a0025c0041t0000g0039 a0026c0036t0000g0044 a0027c0034t0000g0005 a0028c0035t0000g0005 a0029c0033t0000g0005 a0030c0042t0000g0031 a0035c0044t0000g0018 a0036c0043t0000g0041 a0037c0050t0000g0047 a0038c0029t0000g0033 a0048c0051t0000g0022	72	108	0.6667	0	c.432 others(5): Show c.432+2T>C		FAM90A8	ENSG00000285937.1	transcript	ENST00000647775.1	protein_coding	3/3					chr8	TogoVar
FAM90A9_chr8_7756330_7769340	7762715	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00609.hp1 others(60): Show HG00099.hp1 HG00099.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01261.hp1 HG01516.hp1 HG01943.hp1 HG01981.hp2 HG02080.hp1 HG02080.hp2 HG02300.hp1 HG02300.hp2 HG02615.hp2 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03239.hp2 HG03490.hp2 HG03669.hp2 HG03710.hp2 HG03927.hp2 HG04204.hp2 NA18939.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19063.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp2 NA20805.hp2	a0001 a0003 a0004 others(18): Show a0001 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0019 a0020 a0021 a0022 a0023 a0024 a0032 a0034	a0001c0001 a0001c0018 a0003c0003 others(19): Show a0001c0001 a0001c0018 a0003c0003 a0004c0004 a0006c0006 a0007c0007 a0008c0008 a0009c0009 a0010c0010 a0011c0011 a0012c0013 a0013c0012 a0015c0016 a0016c0017 a0019c0026 a0020c0022 a0021c0025 a0022c0024 a0023c0023 a0024c0021 a0032c0015 a0034c0036	a0001c0001t0000 a0001c0018t0000 a0003c0003t0000 others(19): Show a0001c0001t0000 a0001c0018t0000 a0003c0003t0000 a0004c0004t0000 a0006c0006t0000 a0007c0007t0000 a0008c0008t0000 a0009c0009t0000 a0010c0010t0000 a0011c0011t0000 a0012c0013t0000 a0013c0012t0000 a0015c0016t0000 a0016c0017t0000 a0019c0026t0000 a0020c0022t0000 a0021c0025t0000 a0022c0024t0000 a0023c0023t0000 a0024c0021t0000 a0032c0015t0000 a0034c0036t0000	a0001c0001t0000g0001 a0001c0001t0000g0003 a0001c0001t0000g0013 others(35): Show a0001c0001t0000g0001 a0001c0001t0000g0003 a0001c0001t0000g0013 a0001c0001t0000g0030 a0001c0001t0000g0031 a0001c0001t0000g0032 a0001c0001t0000g0035 a0001c0001t0000g0042 a0001c0001t0000g0043 a0001c0001t0000g0044 a0001c0018t0000g0034 a0003c0003t0000g0002 a0003c0003t0000g0021 a0004c0004t0000g0003 a0006c0006t0000g0006 a0006c0006t0000g0022 a0007c0007t0000g0007 a0007c0007t0000g0033 a0008c0008t0000g0012 a0008c0008t0000g0020 a0008c0008t0000g0029 a0009c0009t0000g0002 a0010c0010t0000g0014 a0011c0011t0000g0010 a0012c0013t0000g0015 a0012c0013t0000g0037 a0013c0012t0000g0007 a0013c0012t0000g0015 a0015c0016t0000g0006 a0016c0017t0000g0012 a0019c0026t0000g0028 a0020c0022t0000g0019 a0021c0025t0000g0025 a0022c0024t0000g0036 a0023c0023t0000g0027 a0024c0021t0000g0026 a0032c0015t0000g0001 a0034c0036t0000g0003	63	92	0.6848	0	c.432 others(5): Show c.432+2T>C		FAM90A9	ENSG00000285607.1	transcript	ENST00000648344.1	protein_coding	3/3					chr8	TogoVar
FAN1_chr15_30898915_30948108	30937260	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02559.hp2 HG02922.hp2 HG02965.hp2 others(2): Show HG02559.hp2 HG02922.hp2 HG02965.hp2 HG03225.hp2 HG03453.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0003 a0009c0016t0003 a0001c0001t0003 a0009c0016t0003	a0001c0001t0003g0006 a0009c0016t0003g0060 a0001c0001t0003g0006 a0009c0016t0003g0060	5	303	0.0165	0	c.3+ others(4): Show c.3+1G>A		FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	14/14					chr15	TogoVar
FANCG_chr9_35068839_35084942	35075278	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02129.hp1 HG02129.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0030 a0006c0007t0001g0030	1	426	0.0024	0	c.148 others(6): Show c.1480+1G>C		FANCG	ENSG00000221829.11	transcript	ENST00000378643.8	protein_coding	11/13					chr9	TogoVar
FBF1_chr17_75904574_75946042	75937565	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	318	0.0031	0	c.31+ others(4): Show c.31+1G>A		FBF1	ENSG00000188878.20	transcript	ENST00000636174.2	protein_coding	3/29					chr17	TogoVar

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