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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
USP40_chr2_233470526_233571782	233567762	TTATAGTT others(643): Show TTATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTT ATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACC TTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAA CCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATAT AACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTAT ATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTT ATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTATAG TTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03486.hp1 NA18522.hp2 others(2): Show HG03453.hp2 HG03486.hp1 NA18522.hp2 NA19240.hp1 NA20300.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0011 a0002c0010t0011	a0002c0010t0011g0001 a0002c0010t0011g0017 a0002c0010t0011g0018 others(1): Show a0002c0010t0011g0001 a0002c0010t0011g0017 a0002c0010t0011g0018 a0002c0010t0011g0019	5	324	0.0154	-650	c.-17 others(11): Show c.-1748_-1099del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		981		chr2	TogoVar
C8orf82_chr8_144520733_144534111	144531191	AGAGCAGC others(642): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGC AGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGG GCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	398	0.0025	-649	c.-29 others(11): Show c.-2924_-2276del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
IDI1_chr10_1034419_1054119	1046921	CTGTCTAC others(642): Show CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTGGTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00609.hp1 others(78): Show HG00140.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01169.hp2 HG01243.hp2 HG01361.hp2 HG01433.hp2 HG01884.hp2 HG01993.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18960.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18988.hp1 NA18993.hp2 NA18995.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19011.hp1 NA19057.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19082.hp2 NA19086.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0003c0004t0003	a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0042 others(23): Show a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0003g0003 a0001c0001t0003g0076 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0004g0010 a0001c0001t0004g0069 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0101 a0001c0001t0004g0118 a0001c0001t0005g0026 a0001c0001t0005g0103 a0001c0001t0005g0109 a0003c0004t0003g0028	81	438	0.1849	-649	c.140 others(17): Show c.140+1294_140+1942del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
ITSN2_chr2_24197864_24365536	24324879	ATGAACAC others(642): Show ATGAACACCTTAAAAGAACTCACAGACTCTAATATTTTAAAGAGACTCTA CCAGCCAAGAAAATCACACACAACAATCACGGTTACATATTATCATGATT AATGTAACCAAGAGAATAAAAATGTTCTAAGGCATTTTAACAAGGAATAA TTTTTAAGTAGTGTTCAAATAACCTTTTAAAAAATTAATCATATTAAAAC ATAAAGTATTAATGCACCAAGAATTTTCTAGGAACAAAAAGATAACACTG GTCAGGTGTGATGGCTCATGCCTGTAATCCAAGCACTTTGGGAGGCTAAG GTGGAGGACTTCTTGAGCCCAAGAGTTCAAGACCAGCTTGGACAAGATAG TGAGACCCCCATGTCTACAAAAAATCTAAAAATTAGCTGGGTGTGGTGGC TCACACCTGTGGTCCCAGCTACTCAGGAAGCAGAGGCAGGAGGATTGCTT GAATCTAGCAAGTCGAGGCTGCAGTGAGCTGTGTTCATACCACTACACTC CAACCTGGGCAACAGAGTGGAGACCCTGTCTCAAAAAACAAAACACTGCA ATAAGAAAACTGGGCAATACGTGTAATTCAAAGCCAATTTTAAAATAGTT AATTCAGTCCTGGCTTTCTTATTTAAATATATCAACTAACAGAACCCTTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	224	0.0045	-649	c.31+ others(15): Show c.31+2524_31+3172del	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	2/39			chr2	TogoVar
JPH3_chr16_87597508_87703156	87676707	TTGGGTGA others(642): Show TTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAATTGTTATCTCAGC CAGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGC AAGTGGATCACATGAGGTCAGGAGTTCAAGTCCAGCCTGACCAACATGGC GAAACCCCGTCTCTACTAAAAATACAAAAATTAGGCCAGGCGCGGTGGCG CACGCCTGTAATCCCAGCACTTGGGGAGGCTGAAGTGGGCGGATCACGAG GTCAGGAGATCGAAACCATGGTGAAACCCCGTCTCTACTAAGAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTACAGTGAGC TGAGATCGTGCCACTGCAATCCAGCCTAGGCGACAGAGTGGGACTCCATT ATACACACACACACGCACTATATATATATACACACACACACACACACACA CACACACACACACACACACAAAAAAAAAAATTAGCCGGGTGTGGTGGGCG CCTGTAATCCCAGCCACGTGGGAGGCTGAGGCAGAAGAATTGCCTGAACC TGGGAGGCAGAGTTTGCAGTGAGCCGTGATCATGCCACTGTACTGCAGCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG03516.hp1 HG02109.hp1 HG02280.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0095 a0001c0003t0001g0152 a0001c0003t0001g0012 a0001c0003t0001g0095 a0001c0003t0001g0152	3	380	0.0079	-649	c.116 others(19): Show c.1161-7419_1161-6771del	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
LRRC24_chr8_144517388_144532033	144531191	AGAGCAGC others(642): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGC AGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGG GCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	398	0.0025	-649	c.-49 others(11): Show c.-4940_-4292del	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
OSTN_chr3_191194241_191270615	191259370	TTTTTGTA others(642): Show TTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGACCAGGCTGGC CTCGAACTCGTGACATCATGATCCACCCGCCTTGGCCTCCCGAAGTGCTG GGATTACAGGCGTGAGCCACCTTGCCTGGATTTTTTTTTTTAACCAAAAT ACACTCCCTGGTAAAATTAATAAGCCTTAACCAAGGTTCTGACTTAACCA AGGATGTATGAGGTGTCTCCAAAGAAATAAATGACCACCTCCAAAAAGTC AAAAGTCACACAGATGTCAAACCAACAGGGCCCCCTGACTGGGTATCAAA GCCAGGCGTTGATGCTGAAAGCATGGACTTTTAACTATTAGACCACAAGG CAGGATGGCTTTTATTGTTATTCCCTCAGGCAATCTCTTACAAAGGATTT TAAATGTTTTAGGTCAAATTTTTGCCCTTTAATTTAGTCAAGAGAATTTT GAAAGCTAGCTATGACCCTATTATGTATCCTTCTTTTTTTTTTTTTTTTT TCTTGAGACAGAGTCTCACTCTGTCACCAGGCTGGAGCGCAGTGGTACAA TCTCGACTTACTGCAACCTCCACCTCCCCGGTTCAAGTGATTCTCCTGCC TCAGCCTCCGGGGTAGCTGGGACTACAGGCACACACCATGCCCGGCTAAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	402	0.0025	-649	c.13 others(17): Show c.13-3475_*13-2827del	OSTN	ENSG00000188729.7	transcript	ENST00000682035.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
PFKP_chr10_3062548_3141802	3098023	ATAAACAC others(642): Show ATAAACACACATATATATATAATATTTCTGGTAGAAATTTATAAATATAA GTATACAAATTGGCCAGCTATCAAGGTGCCTGCACTATTGATTAATTTAT ATATAGAACTCCATAATCTATGAGTCATTTCAATTTTAAAAACCTTTCTT TTTTCTGTCCTCCGGACCTTCACTAAGGTGGGCTTATGGATCCAACAATA ATCTATCATGAACTTTTCTAAATCCTTAATAGTTATTCCTTCTTAAGATT AAATGCTGTGGAAAGTGAGTTATGTAGATGAAGTTACCCGTGGGCATTGC TGCATTTCCTGATCTTGTATATTCCGTGGAGAAAAAGATGGGGATGCATT TAGCATTGAAAGGTAATTGTTGGCCAGGCGCGGTGGCTCACGCCTGTAAT TCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGTTTG AGACCAGCATGGCCAACAAGGTGAAGCCCCGTCTCTACTAAAAGCTACAA AAATTAGCCAGGTGCAGTGGCAGGCACCTGTAATCCCAGCTGCTCAGGAG GCTGAGGCAGGAGAATCACTTCAACCCGGGAGGCAGGTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0001 a0001c0065t0001	a0001c0065t0001g0165 a0001c0065t0001g0165	1	402	0.0025	-649	c.187 others(16): Show c.187-1251_187-603del	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21			chr10	TogoVar
RPH3AL_chr17_207389_357807	300171	ACTCTAGA others(642): Show ACTCTAGAAGGGGCTGGCCCAGCCTAGGCCTGCAGAATCTCTCACCCACT CTAGAAGGGGCTGGCCCAGCCTAGGCCTGCAGAATCTCTTACCCGCTCTA GCAGGGGCTGGCCCAGCCTAGACCTGCAGAATCTCTCACCCGGTCTAGCA GGGGCTGGCCCATAGGCCTGCAGAATCTCTCACCCGCTCTAGCAGGGGCT GGCCCAGCCTAGACCTGCAGAATCTCTCACCCACTCTAGAAGGGGCTGGC CCAGCCTAGACCTGCAGAATCTCTCACCCACTCTAGAAGGGGCTGGCCCA GCCTAGGCCTGCAGAATCTCTTACCCGCTCTAGCAGGGGCTGGCCCAGCC TAGACCTGCAGAATCTCTCACCCGGTCTAGCAGGGGCTGGCCCATAGGCC TGCAGAATCTCTCACCCGCTCTAGCAGGGGCTGGCCCAGCCTAGACCTGC AGAATCTCTCACCCACTCTAGAAGGGGCTGGCCCAGCCTAGACCTGCAGA ATCTCTCACCCGCTCTAGCAGGGGCTGGCCCAGCCTAGACCTGCAGAATC TCTCACCCACTCTAGCAGGGGCTGGCCCATAGGCCTGCAGAATCTCTCAC CCGCTCTAGCAGGGGCTGGCCCAGCCTAGGCCCGCAGAATCTCTTACCCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG02572.hp2 others(1): Show HG01884.hp1 HG02559.hp1 HG02572.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0119 a0001c0001t0006g0095 a0001c0001t0010g0129 others(1): Show a0001c0001t0001g0119 a0001c0001t0006g0095 a0001c0001t0010g0129 a0001c0002t0001g0123	4	133	0.0301	-649	c.351 others(19): Show c.351+18600_352-18318del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
TAF4B_chr18_26221445_26396685	26247842	CTCCAGCC others(642): Show CTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAGTAAAAAA AATTGAGACAGGGTCTTGCTGTCACCCAGGCTGGAATGCATTAGTACAAT CAGGGCTCACTTCAGACTGACCTCCCTAGCATAAGCAGTTCTCCTACGTC AAACCTACTGAGTGACTGGGACTACAGGTGTGCCTCACTATGCCCAGCTA ATTTTTTTTTTTTTTTGGTACATTTGGGATCTCACTGTTTCCCAGGCTGG CCTTGAACTCCTGGGCTCAAGTGATCTTCCTGCCTTAGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCGACTGCACCTGGCCCCTAATCTCCTTTTTA AATGTCATCTTTATTGAGGTAAAATTTTTGTTATTAAAAAAGGGGAACCT AGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTA AGGCAGGAAGATCACTTGAGCCCAGGAGTTCAAGGCCAGCCTGGGAAACA GTGAGATCCCAAATGTACCAAAAAAAAAAAAAAATTAGCTGGGCATAGTG AGGCACACCTGTAGTCCCAGTCACTCAGTAGGTTTGACGTAGGAGAACTG CTTATGCTAGGGAGGTCAGTCTGAAGTGAGCCCTGATTGTACTAATGCAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp1 others(262): Show HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.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 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.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 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.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 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp1 NA18946.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0015 a0001c0021 a0002c0004 a0002c0010 a0002c0018 a0003c0006 a0004c0007 a0005c0011 a0007c0008 a0008c0023 a0009c0014 a0010c0016 a0011c0017 a0012c0020 a0013c0019 a0014c0022	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(48): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0017 a0001c0002t0021 a0001c0002t0032 a0001c0002t0034 a0001c0003t0003 a0001c0003t0010 a0001c0003t0023 a0001c0003t0025 a0001c0003t0036 a0001c0005t0004 a0001c0005t0006 a0001c0005t0024 a0001c0005t0037 a0001c0009t0004 a0001c0015t0008 a0001c0021t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0020 a0002c0004t0022 a0002c0004t0028 a0002c0004t0035 a0002c0010t0019 a0002c0018t0002 a0003c0006t0009 a0003c0006t0030 a0004c0007t0002 a0005c0011t0003 a0007c0008t0017 a0007c0008t0033 a0008c0023t0007 a0009c0014t0002 a0010c0016t0001 a0011c0017t0029 a0012c0020t0012 a0013c0019t0004 a0014c0022t0002	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(262): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0008g0056 a0001c0001t0008g0097 a0001c0001t0008g0110 a0001c0001t0008g0112 a0001c0001t0011g0093 a0001c0001t0011g0261 a0001c0001t0011g0262 a0001c0001t0011g0263 a0001c0001t0011g0264 a0001c0001t0011g0265 a0001c0001t0014g0070 a0001c0001t0014g0072 a0001c0001t0014g0084 a0001c0001t0015g0081 a0001c0001t0015g0085 a0001c0001t0015g0116 a0001c0001t0020g0057 a0001c0001t0026g0121 a0001c0001t0027g0107 a0001c0002t0002g0272 a0001c0002t0005g0013 a0001c0002t0005g0014 a0001c0002t0005g0015 a0001c0002t0005g0016 a0001c0002t0005g0017 a0001c0002t0005g0018 a0001c0002t0005g0019 a0001c0002t0005g0020 a0001c0002t0005g0022 a0001c0002t0005g0025 a0001c0002t0005g0027 a0001c0002t0005g0033 a0001c0002t0007g0003 a0001c0002t0007g0004 a0001c0002t0007g0005 a0001c0002t0007g0006 a0001c0002t0007g0008 a0001c0002t0007g0009 a0001c0002t0007g0011 a0001c0002t0007g0012 a0001c0002t0012g0002 a0001c0002t0012g0030 a0001c0002t0012g0031 a0001c0002t0012g0032 a0001c0002t0013g0021 a0001c0002t0013g0023 a0001c0002t0013g0024 a0001c0002t0013g0028 a0001c0002t0016g0158 a0001c0002t0016g0159 a0001c0002t0016g0160 a0001c0002t0017g0163 a0001c0002t0017g0164 a0001c0002t0021g0223 a0001c0002t0021g0224 a0001c0002t0032g0026 a0001c0002t0034g0190 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0003g0131 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0140 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0148 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0157 a0001c0003t0010g0165 a0001c0003t0010g0166 a0001c0003t0010g0167 a0001c0003t0010g0168 a0001c0003t0010g0169 a0001c0003t0010g0170 a0001c0003t0010g0172 a0001c0003t0023g0125 a0001c0003t0023g0126 a0001c0003t0025g0135 a0001c0003t0025g0136 a0001c0003t0036g0171 a0001c0005t0004g0181 a0001c0005t0004g0182 a0001c0005t0004g0183 a0001c0005t0004g0184 a0001c0005t0004g0185 a0001c0005t0004g0186 a0001c0005t0004g0229 a0001c0005t0004g0230 a0001c0005t0004g0231 a0001c0005t0004g0232 a0001c0005t0004g0233 a0001c0005t0004g0235 a0001c0005t0004g0236 a0001c0005t0004g0237 a0001c0005t0004g0238 a0001c0005t0004g0239 a0001c0005t0004g0240 a0001c0005t0004g0242 a0001c0005t0006g0247 a0001c0005t0006g0248 a0001c0005t0006g0249 a0001c0005t0006g0250 a0001c0005t0006g0253 a0001c0005t0006g0254 a0001c0005t0006g0255 a0001c0005t0006g0256 a0001c0005t0006g0257 a0001c0005t0006g0258 a0001c0005t0006g0259 a0001c0005t0006g0260 a0001c0005t0024g0251 a0001c0005t0024g0252 a0001c0005t0037g0243 a0001c0009t0004g0234 a0001c0009t0004g0241 a0001c0015t0008g0099 a0001c0021t0001g0058 a0002c0004t0002g0189 a0002c0004t0002g0191 a0002c0004t0002g0192 a0002c0004t0002g0193 a0002c0004t0002g0194 a0002c0004t0002g0195 a0002c0004t0002g0196 a0002c0004t0002g0197 a0002c0004t0002g0198 a0002c0004t0002g0199 a0002c0004t0002g0200 a0002c0004t0002g0202 a0002c0004t0002g0204 a0002c0004t0002g0206 a0002c0004t0002g0207 a0002c0004t0002g0209 a0002c0004t0002g0210 a0002c0004t0002g0211 a0002c0004t0002g0212 a0002c0004t0002g0213 a0002c0004t0002g0214 a0002c0004t0002g0215 a0002c0004t0002g0216 a0002c0004t0002g0218 a0002c0004t0002g0219 a0002c0004t0002g0220 a0002c0004t0002g0221 a0002c0004t0002g0225 a0002c0004t0002g0226 a0002c0004t0002g0266 a0002c0004t0002g0274 a0002c0004t0003g0222 a0002c0004t0020g0201 a0002c0004t0022g0188 a0002c0004t0022g0208 a0002c0004t0028g0217 a0002c0004t0035g0203 a0002c0010t0019g0245 a0002c0010t0019g0246 a0002c0018t0002g0205 a0003c0006t0009g0001 a0003c0006t0009g0173 a0003c0006t0009g0174 a0003c0006t0009g0175 a0003c0006t0009g0177 a0003c0006t0009g0178 a0003c0006t0009g0179 a0003c0006t0030g0176 a0004c0007t0002g0267 a0004c0007t0002g0268 a0004c0007t0002g0269 a0004c0007t0002g0270 a0004c0007t0002g0271 a0005c0011t0003g0141 a0005c0011t0003g0149 a0007c0008t0017g0161 a0007c0008t0033g0162 a0008c0023t0007g0010 a0009c0014t0002g0273 a0010c0016t0001g0086 a0011c0017t0029g0156 a0012c0020t0012g0244 a0013c0019t0004g0180 a0014c0022t0002g0187	265	274	0.9672	-649	c.344 others(19): Show c.344-16879_344-16231del	TAF4B	ENSG00000141384.13	transcript	ENST00000269142.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZDHHC11B_chr5_705355_789729	710913	CAATGCTA others(642): Show CAATGCTATGCTCCCATTTCCCAGTGCTGTGAGCTCCCATTTCCCAGTAC TGTGCTCCCATTTCCAAATACTGTGCTCCATTTCCCAGTACTGTGAGCTC CCATTTCTCAGCGCTGTGCTCCCAATTCCCAGTACTGTGCTCCCATTTCC CAATGCTATGCTCCCATTTCCCAGTGCTGTGAGCTCCCATTTTCCAGTAC TGTGCTCCCATTTCCCAGTACTATGGGCTCCCCTTTCCCAGTACTGTGCT CCGCTTTCCCAGTACTATGCTCCCATTTCCCAGTGCTGTGCCCTCCCCTT TCCCAGTACTGTGCTCCCATTTCCCAATACTGTGCTCCCATTTCCTAGTG CTGTGAACTCCCATTTCCCAGTACTGTGCTCCCAATTCCCAGTACTGTGG GCTCCCCTTTCCCAGTACTGTGCTCCCATTTCCCAGTACTATGTTCCCAT TTCCCAGTGCTGTGAGCTCCCATTTCCTAGTACTGTGCTCCCATTTCCCA GTGCTGTGCTCCCAATTCCCAGTACTGTGCTCCCATTTCCCAGTGCTGTA TACTCCTATTTCCCAGTGCCATGTGCTTCCATTTCCCAGTACTGTGCTCA TATTTCCCAGTACTGTGCTCCCATTTCCCAAAACTGTGCTCTCATTTCCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0244 a0001c0002t0070g0244	1	271	0.0037	-649	c.72 others(10): Show c.728_*1376del	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	14/14	5246		chr5	TogoVar
ZMAT4_chr8_40525590_40902826	40612215	ATTCATAT others(642): Show ATTCATATCCTCTGTCTTCTTTCTCTTAGAACTGTGTGCATGCTAAATCA TATCTGCTACTGCTCTGGGGCAATAGTACAGACCCCAGGACCATTTTGTG TGTCAATACAAATAATGAGCAGGAAATGCAGGTTCTATGCCATATAAGCT ACTAGTGACAACCACAGAAAATTTCTAAGTTGTCCATAGCACTGGCAACC CATCCAAATTTCCTTTATGGACCCTGGCTTCCCATGCACACACAGTATCC ATTCCTTAAAAGTGTGTATTCCTCAAGTTCCTGTGCTTTGTTTGCTTTTC TTCTTGCTCTTATCTTGTCACTGATTTTTTCCACTCATAGACTTCTGTCA TGACCTTGTGTTTATGATCTGAAGTCCATATGTTTGTCCCGGTTTTCCTG CTAAGTTCCAGACTCATATATCCAACGAATACCTGATATCTTCACCTGAG TGACCTCAAACTCAACATGACCAAAGCATCTGTGCTACCTCATTCTACTC AATCCCCTCCCCTACCTCCCTAAAAACATGTTCCTTATATTTTGTATACT TTATTCAATGGGTTTCTACCCAGTCATTCTCTGTATTTTGGTTTTTGTTT TTTTTTTTTTTTTTTGAGACGAAGTCTTGCTCTTGTCCCCCAGGCTGGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01106.hp2 others(20): Show HG00099.hp1 HG00738.hp2 HG01106.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG02004.hp2 HG02055.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02818.hp2 HG02897.hp1 HG03098.hp1 HG03209.hp1 HG03491.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0002c0002t0013 a0002c0002t0014	a0001c0001t0001g0145 a0001c0001t0002g0049 a0001c0001t0002g0152 others(20): Show a0001c0001t0001g0145 a0001c0001t0002g0049 a0001c0001t0002g0152 a0002c0002t0001g0015 a0002c0002t0001g0019 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0002g0008 a0002c0002t0002g0131 a0002c0002t0002g0156 a0002c0002t0002g0214 a0002c0002t0003g0024 a0002c0002t0003g0071 a0002c0002t0003g0111 a0002c0002t0003g0141 a0002c0002t0003g0146 a0002c0002t0003g0186 a0002c0002t0004g0166 a0002c0002t0004g0197 a0002c0002t0005g0083 a0002c0002t0008g0002 a0002c0002t0013g0076 a0002c0002t0014g0037	23	228	0.1009	-649	c.578 others(19): Show c.578-31603_578-30955del	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6			chr8	TogoVar
CT45A5_chrX_135770852_135790503	135783868	ATATACGC others(641): Show ATATACGCCTGTGTGCCTGTGCGTATAACTCAAATACAGAATATATGGAA ACTACAAATCCATTTTTAAAATACAAACATCTCAGTAAAAGCTGGGGGAA AATACCTGAAAAGGAACTTCATAAAAGGCATAGTTAAATGACCAATAAAC ACATAAAATGGTGCTAAAAAAAAAAAAAAAAGAAAACAATAAATAGCTGG GTGTGGTGGCACTGCAATCCAGTCTGGGTGACAGAGGGAGACCTCATCTC AAAAGACAAACAAAAATCAATAAATAAAAACAATTTCTTAAAAAGGTGCT CGATCTCATTAATCAGCAGAGAAATGCGAGTGTAGACACAAGGAGAGATC ACTGCACACCCATCAGAGTGGCTGGAATGAAAGACTAACTGTACTGCGAG TGTTCGAATGTGGCACAGCTGGAACCTTCGAATATTTCTGGACTCCCATT CCCACACAGACACCTGAGGCTGTGGCTGAAAGGTCAGATAGAATCCCAGG AAAGAGCTCCTTCAGAATTGCGATCAACCAACCGAGGAAAAGCACCCCAA CCTGGGTCGAGACAGAGTTCCCAAGGTCACGTGGCCTCCTTCATGGCTGA CACAGAGCTCCCTGAGTCCCACCATAGGCTTAGAGAATCCAAGGAACAT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	177	0.0057	-648	c.-7+ others(14): Show c.-7+721_-7+1368del	CT45A5	ENSG00000228836.9	transcript	ENST00000698999.1	protein_coding	1/4			chrX	TogoVar
DLGAP2_chr8_732628_1713476	991380	ACCTTGCC others(641): Show ACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTG TTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTT CCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGG AGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCCATAC TCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCC ATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCGGACCCCCTGCAC CCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCT GCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCAGACC CCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCA GACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTA CCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	40	0.0250	-648	c.73+ others(17): Show c.73+83585_73+84232del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375086	ACCTCAGA others(641): Show ACCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAACGACACCTCTC CACGACCTCAGAACTGATCCCCCACCTCCTACATTTGGGTTAACGACCCC TCTCCACGGCCTCAGAACTGATCCCCCACCTCCTACATTTGGGTTAACGA CACCTCTCCACGACCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTA ACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGG GTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACAT TTGGGTTAACGACACCTCTCCACGACCTCAGAACTGATCCCCCACCTCCT ACATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACC TCCTACATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCC CACCTCCTACATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAG CCCCCACCTCCTACATTTGGGTTAACGACATCTCTCCACGGCCTCAGAAC TGAGCCCCCACCTCCTACATTTGGGTTAACGACCCCTCTCCACGGCCTCA GAACTGAGCCCCCACCTCCTACATTTGGGTTAACGACACCTCTCCACGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp2 HG02895.hp1 others(2): Show HG00639.hp2 HG01496.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0010 a0002c0007 others(1): Show a0001c0003 a0001c0010 a0002c0007 a0003c0005	a0001c0003t0001 a0001c0010t0025 a0002c0007t0008 others(2): Show a0001c0003t0001 a0001c0010t0025 a0002c0007t0008 a0003c0005t0002 a0003c0005t0004	a0001c0003t0001g0027 a0001c0010t0025g0012 a0002c0007t0008g0040 others(2): Show a0001c0003t0001g0027 a0001c0010t0025g0012 a0002c0007t0008g0040 a0003c0005t0002g0031 a0003c0005t0004g0037	5	40	0.1250	-648	c.106 others(21): Show c.106+116247_106+116894del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
GRIN2B_chr12_13532337_13986602	13572971	TCATCATT others(641): Show TCATCATTAAGAGTTTAAACTCTAGATTGAAACAGATACGGATTGAAGAC CAGCTCCGCCACTTACCACTGTGTAACCTTGGGCAAGTAGCATAAACGCT CTGTGCATCCTGTCCTCATTTGTAAGAAGGAGATGATAATGCCTAATTTT CAAGAATGTTGTGAGGATTAACTAATATAATGCATAAGAAGTGCTTGGCG GTCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGT GAAACCCCGTCTCTACTAAAAATACAAAAAACTAGCCGAGCGTGGTGGCA GGCACCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGGCATG AACCCAGGAGGCAGAGCAGGCAGTGAGCTGAGATCATGCCATTGCACTCC AGCCTGGGCTACACAGAGAGACTCCGTCTCAAAAATAAAGTGCTTGGCAC AGCACCTGGCACACAGTAGGTGCCCAATAAATGTTCTCTTATATTATTTT TAATTTGTGTCTCTATTCTGCATTTCCTAGTAAACCCACTCTCTAAGCTT CTTATTCTATTAGTACAGCAATGATCATTGTAGCTGTGCTGTGCTTTGG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01496.hp1 HG02145.hp2 others(10): Show HG01123.hp1 HG01496.hp1 HG02145.hp2 HG02559.hp1 HG02622.hp2 HG02717.hp1 HG02809.hp1 HG02897.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 NA18522.hp2 NA20752.hp1	a0001 a0001	a0001c0005 a0001c0009 a0001c0010 others(3): Show a0001c0005 a0001c0009 a0001c0010 a0001c0030 a0001c0036 a0001c0041	a0001c0005t0126 a0001c0009t0026 a0001c0009t0125 others(10): Show a0001c0005t0126 a0001c0009t0026 a0001c0009t0125 a0001c0009t0129 a0001c0009t0130 a0001c0009t0131 a0001c0009t0132 a0001c0009t0134 a0001c0010t0127 a0001c0010t0128 a0001c0030t0141 a0001c0036t0026 a0001c0041t0133	a0001c0005t0126g0013 a0001c0009t0026g0145 a0001c0009t0125g0175 others(10): Show a0001c0005t0126g0013 a0001c0009t0026g0145 a0001c0009t0125g0175 a0001c0009t0129g0138 a0001c0009t0130g0107 a0001c0009t0131g0151 a0001c0009t0132g0143 a0001c0009t0134g0176 a0001c0010t0127g0136 a0001c0010t0128g0188 a0001c0030t0141g0146 a0001c0036t0026g0110 a0001c0041t0133g0086	13	194	0.0670	-648	c.201 others(19): Show c.2011-1655_2011-1008del	GRIN2B	ENSG00000273079.7	transcript	ENST00000609686.4	protein_coding	10/13			chr12	TogoVar
OTUD7A_chr15_31470398_31875673	31510655	AACATACA others(641): Show AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATATATGTATATCTATATGTAACATATATGTATATCTATATGTAACA TATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATA TGTATATCTATATGTAACATATGTATATCTATATGTAACATATGTATATC TATATGTAACATACATGTATATCTATATGTAACATACATGTATATCTATA TGTAACATACATATATATGTATATCTATATGTAACATACATATGTATATC TATATGTAACATACATATGTATATCTATATGTAACATACATATGTATATC TATATGTAACATACATATGTATATCTATATGTAACACACATATGTATATC TATATGTAACACACATACATATGTATATCTATATGTAACACACATACATA TGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACAC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01943.hp1 NA18998.hp1 HG01192.hp2 HG01943.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0042 a0001c0001t0005 a0001c0001t0006 a0001c0001t0042	a0001c0001t0005g0111 a0001c0001t0006g0124 a0001c0001t0042g0140 a0001c0001t0005g0111 a0001c0001t0006g0124 a0001c0001t0042g0140	3	244	0.0123	-648	c.894 others(17): Show c.894-7485_894-6838del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PCMTD2_chr20_64250748_64281226	64270716	ATAAAATG others(641): Show ATAAAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCGTTGTG ATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCGT TGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGT TCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAG GTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCACG TGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGG CATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGA AGGGCATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTG AGGAAGGGCATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCT TCTGAGGAAGGGCATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAG TCCTTCTGAGGAAGGGCATGTGAGGTGTTCGTTGTGATACGTACAATGGT ACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTTCGTTGTGAGACGTACAA TGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTTCGTTGTGAGACG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03209.hp1 HG06807.hp1 others(1): Show HG02486.hp2 HG03209.hp1 HG06807.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024	a0001c0001t0014g0095 a0001c0001t0014g0096 a0001c0001t0023g0038 others(1): Show a0001c0001t0014g0095 a0001c0001t0014g0096 a0001c0001t0023g0038 a0001c0001t0024g0038	4	332	0.0121	-648	c.707 others(17): Show c.707-2502_707-1855del	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
PIBF1_chr13_72777133_73021461	72995205	AGCAGAGA others(641): Show AGCAGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGAT CACACCACTGCACTCCAACCTGGGCGACAGAATGAGACTCCGTCTCAAAA AAAAAAAAAAAAAGTTCTTTCTAATTTTGTTTTCCCTTCAGCATGATCCC ACGCCTATCTCCAAGAATACAGCCAGAAAAATACATCATTCATTAAAGAG TAAAACATTAAAACAGTGCGACATGGGTGCATAAATAGACAGACTGTAGA AACAGAGTTTTAAAGTCCATAAATAAATAATATACTTACAGCAGTTTAGT ACATTATAAAGATGGCATCAGTGGGGGAAAAAATGGTCTCTTCAGTACAT GATGTTGTTATAGGAGAGCCATCTTGAGGGGACAGATGTTGTATTCATAT GTTTTACCATAAGCCAGGATAAACTTTAAACCAATCAAAGATCTATATGT TTGAAAAAGAAAAGAGGCTGGGCACAGTGACTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGAGTGGATCACGAGGTCAGGACTTCAAGACCA GCCTGGCCAAGATGGTGAAACCCCGTCTCTATTAAAAATACAAAAATTAG CTGAGCGTGGTTGTGGGTGCTTGTAATCCTAGCTACTCTGGAGGCTGAG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	346	0.0029	-648	c.205 others(19): Show c.2050-3589_2050-2942del	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RASA3_chr13_113972783_114137623	114084887	CTCCTCGC others(641): Show CTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCC CGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAA ATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGG GGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTC GCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02300.hp2 HG04228.hp1 others(2): Show HG02280.hp1 HG02300.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0035 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0005g0023	5	67	0.0746	-648	c.56- others(17): Show c.56-11698_56-11051del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114085697	GTCCTCGC others(641): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCC CGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAA ATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGG GGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTC GCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	67	0.0149	-648	c.56- others(17): Show c.56-12508_56-11861del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
SMYD3_chr1_245744347_246512279	245975301	CAGGGAAA others(641): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGT AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0115 a0002c0005t0002g0115	1	150	0.0067	-648	c.532 others(19): Show c.532-46012_532-45365del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975901	CAGGGAAA others(641): Show CAGGGAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGT CTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCT CTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCT AGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0070	1	150	0.0067	-648	c.532 others(19): Show c.532-46612_532-45965del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
TBCD_chr17_82747065_82950914	82785206	AGGGGGTC others(641): Show AGGGGGTCCATGCTGTGTGACTGAGACCACTGGATCCCACCCATCGCAGC GGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACCCGACCCATCG CAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGATCCCACCC ATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACCCG ACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGA CCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCAC TGGATCCCACCCATCGCAGCGGGAGGGGCGTCCATGCTGTGTGACTGGGA CCACTGGACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACT GGGACCACTGGACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGT GACTGGGACCACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGAT GTGTGACTGGGACCACTGGATCCCGTCCATCGCAGCGGGAGGGGGGTCCA TGCTGTGTGACTGGGACCACTGGATCCCGCCCATCGCAGCGGGAGGGGGG TCCATGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0003 a0012c0020t0003	a0012c0020t0003g0207 a0012c0020t0003g0207	1	318	0.0031	-648	c.771 others(17): Show c.771+3508_771+4155del	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TWIST2_chr2_238843085_238915534	238870463	CACCCGAC others(641): Show CACCCGACACACGCCACACACACACCACACACCCCACGCACACATCACAT ACCACACACAAACCACACACCCTACATACCCCACACACCCCACACACACC ACACACCACACACCACACACACACACCACACACCCCACACACACATCACA TACCACACACAAACCACACCCCCCCACACACACAGCACACACCACACACA AACCACGCACCCCATGCACACACCACACACCACATCCCACACACTCCCCA CACACATCACATACCACACACAAGCCACACAACCCCCCAGACACCACACC CCACACACACAGTACACACTACACACAAACCACACACCCCATGCACACAC CACACACCCCACACACACCACACCCCCACACGCCACACACACACCTTACC CCACACACACCACACACACACCACATACACACCACATCCCTCCCACACAC CACACACACACCACACCCCACACATACCCCCCAAACCCCACACCCCACAC ACACCACATCCTCCCACACACCACACACACACCCCACTCTGACACACACC ACACACACAGCACACCCCACTCACACACATCACACCCACCACACACCCCA CACACAAACACCCCCCCCACACACACCATCACCCCCCCCAACACACACA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	338	0.0030	-648	c.35 others(19): Show c.35+21731_*35+22378del	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
BCHE_chr3_165767904_165842423	165795387	ATAACTGT others(640): Show ATAACTGTATTCTTTTTGTTTTCTGGAAGATGTAATAAAGGCAGAAAAAA TTAGTTACCAAAGCAATGTGAACTGTATAATAATGCAGCTGTGCATAGAG AATGTAAGAGGATTATTTGCAATTTAGATTATATTTAATGCAAATATCTC AATCTAGTTCACTTTTATTAGTTGCTTCCTCCCATCTCCAGACATTTCTA TTGCTAACGGTAGAAATGAGAAAAATAATTACCGAAGAACAATTCCCTAG ATTCATTATAGTTTGTTCAGTTTTTTTCTTAGTTAAATAATAAGGTTTGC TATTTTTGGGCAGGAATCAAGGTACCTAGAGGGACAGGATTATAATAGCA TACCTTAGAAATTTGCAAAAATTCATAAATTAACTAAGGATGATTTCTTG TATCTAAATATACTGTGCTATAAGAGTCCATGGCCAAGTAGCTTATTAAA CTTTTACTGTTTCATCATTCCTGACTTGTGGATTGGAATACATCCTCAGC TTCACAGAGAATTTGGATATAGGTTTTTATGAGAAAAAAGAAGGGAAGAG AAAGGGAGAGGAGAGGAGAAGAGGAGAAGAGAAGAACCCCACAGGAAATA TATAATCTGTATGATCCTTTACACAAATTTGATCAAAGGCAAAACATT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	304	0.0033	-647	c.151 others(19): Show c.1518-9723_1518-9077del	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
KIF26B_chr1_245149985_245714432	245618535	GTGCCACA others(640): Show GTGCCACAGTGCTGGGGCTGTGTCTGCTGTGTGCTGTTTGTGAGCTTGTC CAAGCCCTATTAGACTATAGGTTCCTTGAGACAGAGTGCCACACTCCTGG GGCTGTGTCCACTGCATCAGTGTCCAAGCCCTATTAGACTATAGGTTCCT TGAGACAGAGTGCCACAGTGCTGGGGCTGTGTCTGCTACGTGCTGTTGGT GAGCTTGTCCAAGCCCTATTAAACTATGGGTTCCTTGAGACAGACTGCCA CAGTGCTGGTGCTGTGTCCGCTGCATGCTGTTGGTGAGCTTGTCCAAGCC CTATTAGACTATAGGTTCCTTGAGACAGAGTGCCACAGTGCTGGGGCTGT GTCTGCTGCGTGCTGTTGGTGAGCTTGTCCAAGCCCTATTAGACTATAGG TTCCTTGAGACAGAGTGCCACAGTCCTGGGGCTGTGTCCACTGCATCAGT GTCCAAGCCCTATTAGACTATAGGTTCCTTGAGACAGAGTGCCACAGTGC TGGGGCTGTGTCCACTGCATCAGTGTCCAAGCCCTATTAGACTATAGGTT CCTTGAGACAGAGTGCCACAGTGCTGGGGCTGTGTCTGCTGCGTGCTGTT GGTGAGCTTGTCCAAGCCCTATTAAACTATGGGTTCCTTGAGACAGAC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03041.hp1 NA18906.hp1 HG02257.hp2 HG03041.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0022 a0001c0038 a0001c0002 a0001c0022 a0001c0038	a0001c0002t0078 a0001c0022t0055 a0001c0038t0006 a0001c0002t0078 a0001c0022t0055 a0001c0038t0006	a0001c0002t0078g0005 a0001c0022t0055g0137 a0001c0038t0006g0147 a0001c0002t0078g0005 a0001c0022t0055g0137 a0001c0038t0006g0147	3	160	0.0188	-647	c.209 others(19): Show c.2098+6588_2098+7234del	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
MYT1_chr20_64159452_64247253	64175580	TCTCCTGT others(640): Show TCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCA GCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTA GCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCGTCTCCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCGTCTC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0057 a0001c0001t0008g0057	1	223	0.0045	-647	c.-99 others(19): Show c.-99+10848_-99+11494del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
PFKP_chr10_3062548_3141802	3098025	AAACACAC others(640): Show AAACACACATATATATATAATATTTCTGGTAGAAATTTATAAATATAAGT ATACAAATTGGCCAGCTATCAAGGTGCCTGCACTATTGATTAATTTATAT ATAGAACTCCATAATCTATGAGTCATTTCAATTTTAAAAACCTTTCTTTT TTCTGTCCTCCGGACCTTCACTAAGGTGGGCTTATGGATCCAACAATAAT CTATCATGAACTTTTCTAAATCCTTAATAGTTATTCCTTCTTAAGATTAA ATGCTGTGGAAAGTGAGTTATGTAGATGAAGTTACCCGTGGGCATTGCTG CATTTCCTGATCTTGTATATTCCGTGGAGAAAAAGATGGGGATGCATTTA GCATTGAAAGGTAATTGTTGGCCAGGCGCGGTGGCTCACGCCTGTAATTC CAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGTTTGAG ACCAGCATGGCCAACAAGGTGAAGCCCCGTCTCTACTAAAAGCTACAAAA ATTAGCCAGGTGCAGTGGCAGGCACCTGTAATCCCAGCTGCTCAGGAGGC TGAGGCAGGAGAATCACTTCAACCCGGGAGGCAGGTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0222 a0001c0016t0001g0222	1	402	0.0025	-647	c.187 others(16): Show c.187-1247_187-601del	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCUBE1_chr22_43192280_43348372	43280819	TCCTCCTG others(640): Show TCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAG TCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTA CCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACC CTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTT CTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTG TCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCA CCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCT CCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCC TCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCC TCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTT GGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGC CACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCAT CCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCATCTCCCTCAGCCAC	T T	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0006 a0004c0011t0006	a0004c0011t0006g0144 a0004c0011t0006g0144	1	280	0.0036	-647	c.484 others(18): Show c.484+9580_484+10226del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SLC20A2_chr8_42411475_42506231	42441416	TGCTGGGA others(640): Show TGCTGGGATTACAGGCATGAGTCACCGTGCCTGGGCTATTTTGTTCTTTT TGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTTACTCTGTTACCAGAC TGGAGTGCTGTGGCGCGATCTCGGATCACTGCAACCTCTGACTCCATGGT TCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCAT GTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTC ACCATGTTGGCCAAGATGGTCTCAATCTCCTGACCTTGTGATCCACCCAC CTCAGCCTCCCAAACTGCTGGGATTATAGTCGTGTGCCACTGCGCCTGGC CTATTTTGCTCATTTTTTAATTGAGTTATTTGTTTTCTAAAATGTGTTTT TATTTTTTGAATACAAGTCCTTTGTAGTTATGGGATGTGCAAACATTTTT TCCCATTCTGTTCCCGGTGCTTCTCACAGAGCAATAGTTTGAAATTTTGA TGAAGTACAATTTATCAAGTTGTCCTTTTTTTTTTTGAGATGGAGTTTTG CTCTTGTTGCCCAAGGGGAGTGCAATGGCACAATCTCGGCTCAATGCAAC CTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03579.hp1 NA18906.hp1 others(2): Show HG02886.hp1 HG03579.hp1 NA18906.hp1 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004	a0001c0004t0001g0009 a0001c0004t0001g0113 a0001c0004t0002g0013 others(2): Show a0001c0004t0001g0009 a0001c0004t0001g0113 a0001c0004t0002g0013 a0001c0004t0004g0023 a0001c0004t0004g0168	5	238	0.0210	-647	c.731 others(17): Show c.731-2410_731-1764del	SLC20A2	ENSG00000168575.10	transcript	ENST00000520262.6	protein_coding	6/10			chr8	TogoVar
ZNF804B_chr7_88754700_89343528	89324169	GTTTAATA others(640): Show GTTTAATAGCAAGACGTTGAAATATTCTATAATAATTGTCCATTTTTTCC TCCATGCAGTGGGTATCCATTTTCACTTTGTGTATTTTAATGCTCCATCA TCATTATGAAGAAACCTTTCTTATTCCTGGTAAAATATCTTTGCTCTGAG ATCTAATCTGTCTTACAGTGATATGGCCCCCCTAGCTTTCTTTTGACAAG TGTTGACATAATATGTGTTCTTACATTCTTTTCTTTTGACTCATTTTGTC CTCATTTTTAAAAAAGCTTGTTTGTGTAGTCAACAGAGTTGACCTCACGC TTTTATCCAAATGAATACTCTCTGTCTTTTAATTTTGGTGTTTAGACCAT TTACATTTAATATATTATTATTATGTTTAAATTTTATTTATTATCTTGTT ATTTATTTTATAATTGTCCAGTCTACCTTACCTTCTTACTTTTTTTTTTT TTTTTTTGCATTTTCTTGCACTGAGTACATTTAATGATTTTCTTTTATCT CCTTTGTTGTCCTCCTGGCTAAAACACTTTATCATTTTAATGGCTGCTGT AGAGTTCATAGTATATTTTTCTTTAACTTACAGACCAGTTTCAACTGCTA TTACATCCTGATAATATTTGATTGGATACAAAATATTAATTTTTCTCA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0001 a0002c0034t0001	a0002c0034t0001g0021 a0002c0034t0001g0021	1	166	0.0060	-647	c.250 others(17): Show c.250-3171_250-2525del	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPH7_chr9_137549444_137583925	137565720	ACTCTGTC others(639): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	340	0.0029	-646	c.641 others(16): Show c.641-1212_641-567del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565920	TGGGTGAC others(639): Show TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	340	0.0029	-646	c.641 others(16): Show c.641-1412_641-767del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
KCNIP4_chr4_20723606_21953772	21084350	CATATCTT others(639): Show CATATCTTAAATTAGATTGTTCCAGGAATCCTTAAAATGCAAGAGAAATG GCAATGATGGGGCAGTGGATAAATCTAAATGACATTACGTGGGCTATGAT TCCTTTCTCCATGCCATTTGGAAAGTTAGAAGAAATCATATTAGGCCTGA GAATAGACTGGGTGCTTCTCAGTGTGTATCCTTTACACCCAGAGTGCCAA TCATCTAGGATGCACCGGTTCTGCCATACTGGGGATATACAGTCAAAGTC CATTCTTACTAGCTGGTACCTTGCAGGACCAGTTGTCAAATATTTTTAAC AGCACCTTATTCATGCATTTTTTTCTAGAATATATATGAACTTTTTCCAT CCCCAGTATTGTGGCTCCCCTCCCATCCCTATTTAGATCCTCATCTCTCA CTTGGATGCCTAAAATAGCCACTTCAGCCCCTCTTTCTACATAATCATCT CCTGTAATTTATTCTCAACACATGTTTTCTTGAAGCCTTATCCAAATATA TGATTCCTCTACTAAATGCATGAATACATAAAGAAAACAAACATAGAATA ATTTACTGCTACTGACTTCATGTCATTCCACAGGATTAAATATAGATCCC ATATTATACACACTCATATTACACTTATATAATATCTATATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	80	0.0125	-646	c.62- others(19): Show c.62-202287_62-201642del	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(639): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 NA18964.hp2 NA18969.hp2 HG02015.hp1 NA18964.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239	3	350	0.0086	-646	c.25 others(11): Show c.2518_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
PRPF6_chr20_63976132_64038100	64011928	TCTTTCTT others(639): Show TCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGT CTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGG ACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTAC GAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGA TACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAG TAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTT CTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCAC GGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGG AAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAG GAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACAC CTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAA ATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTG CTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGG	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	294	0.0034	-646	c.152 others(18): Show c.1524+715_1524+1360del	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
TMEM44_chr3_194582678_194638419	194629933	ACTGCCTC others(639): Show ACTGCCTCCCGAAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGCC CCTGAAATAGTATGCTGTCGTACCTGCCTCCAGAAGGGGCTGGCTGTTTC CATCGGCGTCACTGATAGGGTCCCTGAAATAATACGCTGTCGTACCTGCC TCCCGAAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGCCCCTGAA ATAATACGCTGTCGTACCTGCTTCCCGAAGGGGCTGGCTGTTTCCATCGG CGTCACTGATAGGGCCCCTGAAATAATACGCTGTCGTACTGCCTCCCGAA GGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGCCCCTGAAATAGTAT GCTGTCGTACCTGCCTCCAGAAGGGGCTGGCTGTTTCCATCGGCGTCACT GATAGGGCCCCTGAAATGATACGCTGTCGTACCTGCCTCCCGAAGGGGCT GGCTGTTTCCGTCGGCATCACTGATAGGGCCCCTGAAATAATACGCTGTC GTACTGCCTCCCGAAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGG CCCCTGAAATAGTATGCTGTCGTACCTGCCTCCAGAAGGGGCTGGCTGTT TCCATCGGCGTCACTGATAGGGCCCCTGAAATGATACGCTGTCGTAC	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0385 a0001c0001t0003g0385	1	404	0.0025	-646	c.138 others(17): Show c.138-2070_138-1425del	TMEM44	ENSG00000145014.18	transcript	ENST00000347147.9	protein_coding	1/9			chr3	TogoVar
ADARB2_chr10_1172313_1742525	1541522	GGACCCTG others(638): Show GGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCGGACCC TGGATCACAGCCGCCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATC CGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGATCACAGCCGCCCA GACCCCACTCAGACGCAGTTCAGACCCTGGATCCGTCCAGACCCCACTCA GACGTAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCA GTTCGGACCCTGGATCACAGCCGCCCAGACCGCACTCAGATGTAGTTCAG ACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGACCCTG GATCACAGCCGCCCAGACCGCACTCAGATGTAGTTCAGACCCTGGATCAC AGCCGTCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGT CCAGACTCCACTCAGACGTAGTTCAGACCCTGGATCACAGCCGTCCAGAC CCCACTCAGACTCAGTTCAGACCCTGGATCCGTCCAGACCCCACTCACAC TCAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGACGCAGTT CAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGTAGTTCA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp1 HG03540.hp1 others(2): Show HG02615.hp1 HG02622.hp1 HG03540.hp1 NA19043.hp1 NA20129.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0008c0013	a0001c0001t0023 a0001c0003t0001 a0001c0003t0045 others(2): Show a0001c0001t0023 a0001c0003t0001 a0001c0003t0045 a0002c0002t0053 a0008c0013t0020	a0001c0001t0023g0023 a0001c0003t0001g0052 a0001c0003t0045g0057 others(2): Show a0001c0001t0023g0023 a0001c0003t0001g0052 a0001c0003t0045g0057 a0002c0002t0053g0106 a0008c0013t0020g0037	5	106	0.0472	-645	c.101 others(21): Show c.101-163007_101-162363del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ASB6_chr9_129629605_129647151	129642476	GCCCTGGG others(638): Show GCCCTGGGCGCCCCTGAGAGCTGTGGTCATCAGACACTGCCCCTTCCGGT TCGGGCTGGCCCTCGCCTTCCCTGAAGAGGGGCTGGGCCACCTCTGTCAC CACCCGGCCCGCTGACTGGAATGATGAGGACCAGGGTACTCGCACGTCCC CTCCTCAGTTTCTTATTCTCTGTCCCGGGGAGCACCTGGCCAGGACGGCT GCTAGCCCTCTCCACCTCTGCCTTGATGGACTCAGTGAATCTTGTTTTTT GTTGTTGTTGTTTTTGTTTTTTTGGGGGACGTAGTCTCGCTCTGTTGCCC AGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCC GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAG GCGCTGGCCACCACGCCCAGCTTATTCTTGTATTTTTAGTAGAGACAGGG TTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCTC CCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGTGCC CAGCCCGAATCTTGTGTATTTTTTAGAGACAGGGTCTCACTCTGTCTCCC AGGCTGGAGTGTAGTGTAGTGATCATGACTCACTGCAGCTTTGAAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19057.hp1 NA19004.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0006 a0001c0002t0007g0006	2	422	0.0047	-645	c.-11 others(10): Show c.-1122_-478del	ASB6	ENSG00000148331.12	transcript	ENST00000277458.5	protein_coding		326		chr9	TogoVar
DCBLD2_chr3_98790941_98906695	98836789	CCCTCCCG others(638): Show CCCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCC CTCCCGGAGGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGGCTGACCCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCAGACGGGGTGGCTGGCCG GGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGG CAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00597.hp1 others(30): Show HG00099.hp2 HG00323.hp2 HG00597.hp1 HG00673.hp1 HG01070.hp1 HG01081.hp2 HG01515.hp2 HG01517.hp1 HG02683.hp1 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04228.hp1 NA18947.hp1 NA18949.hp2 NA18952.hp2 NA18964.hp2 NA18968.hp2 NA18978.hp2 NA18986.hp2 NA18989.hp1 NA18999.hp1 NA19002.hp2 NA19010.hp1 NA19054.hp1 NA19070.hp2 NA19084.hp2 NA20752.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0003 a0001c0007 a0007c0019 others(1): Show a0001c0003 a0001c0007 a0007c0019 a0009c0018	a0001c0003t0003 a0001c0003t0014 a0001c0003t0022 others(6): Show a0001c0003t0003 a0001c0003t0014 a0001c0003t0022 a0001c0003t0023 a0001c0003t0045 a0001c0003t0046 a0001c0007t0014 a0007c0019t0003 a0009c0018t0003	a0001c0003t0003g0005 a0001c0003t0003g0281 a0001c0003t0003g0285 others(29): Show a0001c0003t0003g0005 a0001c0003t0003g0281 a0001c0003t0003g0285 a0001c0003t0003g0288 a0001c0003t0003g0289 a0001c0003t0003g0290 a0001c0003t0003g0291 a0001c0003t0003g0293 a0001c0003t0003g0296 a0001c0003t0003g0297 a0001c0003t0003g0299 a0001c0003t0003g0300 a0001c0003t0003g0301 a0001c0003t0003g0302 a0001c0003t0003g0306 a0001c0003t0003g0309 a0001c0003t0003g0313 a0001c0003t0003g0314 a0001c0003t0003g0315 a0001c0003t0014g0294 a0001c0003t0022g0303 a0001c0003t0022g0304 a0001c0003t0023g0320 a0001c0003t0023g0321 a0001c0003t0045g0310 a0001c0003t0046g0305 a0001c0007t0014g0286 a0001c0007t0014g0287 a0001c0007t0014g0292 a0001c0007t0014g0298 a0007c0019t0003g0295 a0009c0018t0003g0312	33	330	0.1000	-645	c.571 others(19): Show c.571+12027_572-11424del	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
GALNT9_chr12_132191372_132334589	132223362	CNNNNNNN others(638): Show CNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(118): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp1 NA18980.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp2 NA19070.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(22): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0022 a0001c0025 a0001c0028 a0001c0030 a0001c0031 a0001c0035 a0001c0038 a0001c0040 a0004c0024 a0006c0037	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(26): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0007t0010 a0001c0008t0002 a0001c0009t0002 a0001c0012t0002 a0001c0015t0001 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0003 a0001c0022t0001 a0001c0025t0012 a0001c0028t0001 a0001c0030t0001 a0001c0031t0001 a0001c0035t0009 a0001c0038t0001 a0001c0040t0007 a0004c0024t0001 a0006c0037t0001	a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0023 others(118): Show a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0008g0003 a0001c0001t0011g0050 a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0034 a0001c0002t0001g0053 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0141 a0001c0002t0001g0151 a0001c0002t0001g0163 a0001c0002t0013g0021 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0030 a0001c0003t0001g0041 a0001c0003t0001g0123 a0001c0003t0001g0128 a0001c0003t0001g0162 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0004t0001g0016 a0001c0004t0001g0020 a0001c0004t0001g0056 a0001c0004t0001g0060 a0001c0004t0001g0076 a0001c0004t0001g0106 a0001c0004t0001g0109 a0001c0004t0001g0112 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0005t0001g0018 a0001c0005t0001g0026 a0001c0005t0001g0037 a0001c0005t0001g0113 a0001c0006t0001g0013 a0001c0006t0001g0073 a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0007t0001g0015 a0001c0007t0001g0138 a0001c0007t0010g0108 a0001c0008t0002g0170 a0001c0008t0002g0171 a0001c0008t0002g0172 a0001c0008t0002g0173 a0001c0008t0002g0182 a0001c0009t0002g0168 a0001c0009t0002g0169 a0001c0009t0002g0174 a0001c0009t0002g0175 a0001c0009t0002g0177 a0001c0012t0002g0179 a0001c0012t0002g0180 a0001c0012t0002g0181 a0001c0012t0002g0183 a0001c0015t0001g0024 a0001c0016t0001g0054 a0001c0016t0001g0147 a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0018t0001g0039 a0001c0019t0003g0077 a0001c0022t0001g0120 a0001c0025t0012g0048 a0001c0028t0001g0144 a0001c0030t0001g0110 a0001c0031t0001g0038 a0001c0035t0009g0140 a0001c0038t0001g0046 a0001c0040t0007g0002 a0004c0024t0001g0160 a0006c0037t0001g0010	121	183	0.6612	-645	c.107 others(21): Show c.1078-20317_1078-19673del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
IDI1_chr10_1034419_1054119	1046954	TCTACACC others(638): Show TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACTGTCT ACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGC TCCACTGTCTGGTCCTTTGTCTACACCACACAGCCCAGCTGCTCCA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	438	0.0023	-645	c.140 others(17): Show c.140+1265_140+1909del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
ITSN2_chr2_24197864_24365536	24324883	ACACCTTA others(638): Show ACACCTTAAAAGAACTCACAGACTCTAATATTTTAAAGAGACTCTACCAG CCAAGAAAATCACACACAACAATCACGGTTACATATTATCATGATTAATG TAACCAAGAGAATAAAAATGTTCTAAGGCATTTTAACAAGGAATAATTTT TAAGTAGTGTTCAAATAACCTTTTAAAAAATTAATCATATTAAAACATAA AGTATTAATGCACCAAGAATTTTCTAGGAACAAAAAGATAACACTGGTCA GGTGTGATGGCTCATGCCTGTAATCCAAGCACTTTGGGAGGCTAAGGTGG AGGACTTCTTGAGCCCAAGAGTTCAAGACCAGCTTGGACAAGATAGTGAG ACCCCCATGTCTACAAAAAATCTAAAAATTAGCTGGGTGTGGTGGCTCAC ACCTGTGGTCCCAGCTACTCAGGAAGCAGAGGCAGGAGGATTGCTTGAAT CTAGCAAGTCGAGGCTGCAGTGAGCTGTGTTCATACCACTACACTCCAAC CTGGGCAACAGAGTGGAGACCCTGTCTCAAAAAACAAAACACTGCAATAA GAAAACTGGGCAATACGTGTAATTCAAAGCCAATTTTAAAATAGTTAATT CAGTCCTGGCTTTCTTATTTAAATATATCAACTAACAGAACCCTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG02897.hp1 HG02109.hp1 HG02647.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0030 a0001c0001t0001g0105 a0001c0001t0001g0107	3	224	0.0134	-645	c.31+ others(15): Show c.31+2524_31+3168del	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	2/39			chr2	TogoVar
KIF22_chr16_29785751_29810384	29786233	GATCTCCT others(638): Show GATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCATGAGCCACCGCGCCAGGCCTAGACCCACTAATTATCTTTTA TGGCACAAACTCTATGTTTTACTTTTGCCCAGGCTGGAATACAATAGCGG CATGATCTCCGCTCACCACAACCTAGCCTCCTGGGCTCAAGTGATCCTCC CACCTCAACTTCCCAAGTAGCTGGGAGTACAGGCATGCGCCACCACACTT GGCTAATTTTAAAATGTTTTGTAGAGAAGGGTCTCACTAGGTTGCCCAGA CTGGTCTTGGACTCCTAGACCCAAGCTATCCTCCCACCTTAGCCTCCCAA AGTGCTGGGATTACAGGAATGAGCCACTACATCTGACCTCCTTTGCTTCT TTTAAAGACATAGTTTGGAATTTTTTTTTTTTTTTTTTTTTTTGAGACAG AGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCA CTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTTCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCCCACACCTGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG03486.hp2 HG02630.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0002c0003 a0001c0011 a0002c0003	a0001c0011t0001 a0002c0003t0001 a0001c0011t0001 a0002c0003t0001	a0001c0011t0001g0088 a0002c0003t0001g0089 a0001c0011t0001g0088 a0002c0003t0001g0089	2	206	0.0097	-645	c.-45 others(11): Show c.-4526_-3882del	KIF22	ENSG00000079616.14	transcript	ENST00000160827.9	protein_coding		4517		chr16	TogoVar
MLLT1_chr19_6205381_6284975	6266526	AGCTCACT others(638): Show AGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTTTCCTGCCTCGG CCTCCCGAGTAGCTGGGATTACAGGCATCCTCACTGCCCCTGGCTAACTT TTTGTAATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCT TGAACTCCTGATCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTTCTG GGATTACAGGCATGAGCCACTGCGCCCAGCCAGAAATGTCTGAAGTAATC TCTTGGAATATTACTTGAGACACTGCTCTACCAAAACAAGAAAATAAACC AAAACACAGGCCGATAAACAAACCTCAGGAGAACAGGAGAGAAAAGGCCC AGGGTAGTGGCTAAAGGGGTGGCTGGATAAGAGTCCGTTGTGATTAGAGA AGGAAGGCACAGAGAACCAGCATGAAACACTCAGAGGACTTTACAAACAA GCCAGAAAGCCAGGTAAGGCGGCTGACACCTGTAAACTCAGCTACTCCTG AAGCAGAGGCGGGAGGACTGCTTGAGCCCAAGGAGTTGGAGTTCAGTCTG GGCAACACAGCGACACCCCCATCTCTAAAAGAATTTTTTTTTTTGAGACA TAGTTTCGCTCTGTCGCCCAGGCCGGAGTGCACTGGCATGATCTCG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18612.hp1 NA18965.hp2 others(1): Show HG02074.hp2 NA18612.hp1 NA18965.hp2 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0196 others(1): Show a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0196 a0001c0002t0001g0197	4	286	0.0140	-645	c.193 others(17): Show c.193+3408_193+4052del	MLLT1	ENSG00000130382.9	transcript	ENST00000252674.9	protein_coding	2/11			chr19	TogoVar
OTUD7A_chr15_31470398_31875673	31510834	TACATATG others(638): Show TACATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATA TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATG TATATCTATATGTAACATATATGTATATCTATATGTAACATATGTATATC TATATGTAACATATGTATATCTATATGTAACATACATGTATATCTATATG TAACATACATGTATATCTATATGTAACATACATATATATGTATATCTATA TGTAACATACATATGTATATCTATATGTAACATACATATGTATATCTATA TGTAACATACATATGTATATCTATATGTAACATACATATGTATATCTATA TGTAACACACATATGTATATCTATATGTAACACACATACATATGTATATC TATATGTAACACACATACATATGTATATCTATATGTAACACACATACATA TGTATATCTATATGTAACACACATATATATGTATATCTATATGTAACACA CATATATATGTATATCTATATGTAACACACATATATATGTATATCTATAT GTAACACATATATATGTATATCTATATGTAACACACACATATATGTATAT CTATATGTAACACACACATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0215 a0001c0006t0018g0215	1	244	0.0041	-645	c.894 others(17): Show c.894-7661_894-7017del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
TEX29_chr13_111315642_111349248	111340702	GTGTTTAG others(638): Show GTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTA GTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCA CCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGC TTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCATCTGTGCTTGTTGA TGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAAT CATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATAATAACC CGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCCTGTTTAGTGAGC ACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTG CTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTG ATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACA TCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAAC CCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02895.hp2 HG01884.hp1 HG02258.hp1 HG02895.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0030 a0002c0004t0001g0163 a0002c0004t0001g0030 a0002c0004t0001g0163	3	416	0.0072	-645	c.239 others(16): Show c.239+956_240-1224del	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
VPS53_chr17_503668_719839	594890	GTCCCCCT others(638): Show GTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCT GGTTTGATGATGCACTCTAGTGCCCCACCCTGGAGGAAGCTGGGAGATGG GAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGTGTCCCC CTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTCGTTTG ATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGT CTGGACCAATTTCCTCGTTTGATGATGCACTCTAGTGTCCCCCTGGAGGA AGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTCGTTTGATGATGCA CTCTAGTGCCCTGCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGAT CAATTTCCTGATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGG GAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAG TGTCCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTC CTGGTTTGATGATGCACTCTAGTGCCCTGCCCTCGAGGAAGCTGGGAGAT GGGAAGGGGTCTGGATCAATTTCCTGATTTGATGATGCACTCTAGT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02602.hp1 NA18747.hp1 others(7): Show HG02135.hp2 HG02602.hp1 NA18747.hp1 NA18955.hp2 NA18960.hp2 NA18994.hp2 NA19000.hp2 NA19010.hp2 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0019 a0001c0005t0020 others(5): Show a0001c0005t0010 a0001c0005t0019 a0001c0005t0020 a0001c0005t0042 a0001c0005t0044 a0001c0005t0045 a0001c0005t0046 a0001c0005t0080	a0001c0005t0010g0008 a0001c0005t0019g0006 a0001c0005t0019g0007 others(7): Show a0001c0005t0010g0008 a0001c0005t0019g0006 a0001c0005t0019g0007 a0001c0005t0020g0005 a0001c0005t0020g0010 a0001c0005t0042g0044 a0001c0005t0044g0096 a0001c0005t0045g0009 a0001c0005t0046g0011 a0001c0005t0080g0092	10	232	0.0431	-645	c.121 others(19): Show c.1218+6260_1218+6904del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
ZG16_chr16_29773256_29787973	29786233	GATCTCCT others(638): Show GATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCATGAGCCACCGCGCCAGGCCTAGACCCACTAATTATCTTTTA TGGCACAAACTCTATGTTTTACTTTTGCCCAGGCTGGAATACAATAGCGG CATGATCTCCGCTCACCACAACCTAGCCTCCTGGGCTCAAGTGATCCTCC CACCTCAACTTCCCAAGTAGCTGGGAGTACAGGCATGCGCCACCACACTT GGCTAATTTTAAAATGTTTTGTAGAGAAGGGTCTCACTAGGTTGCCCAGA CTGGTCTTGGACTCCTAGACCCAAGCTATCCTCCCACCTTAGCCTCCCAA AGTGCTGGGATTACAGGAATGAGCCACTACATCTGACCTCCTTTGCTTCT TTTAAAGACATAGTTTGGAATTTTTTTTTTTTTTTTTTTTTTTGAGACAG AGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCA CTGCAAGCTCCGCCTCCTGGGTTCACGCCATCCTTCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCCCACACCTGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03486.hp1 HG02630.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0018 a0002c0002t0017 a0002c0002t0018	a0002c0002t0017g0005 a0002c0002t0018g0005 a0002c0002t0017g0005 a0002c0002t0018g0005	2	320	0.0063	-645	c.58 others(11): Show c.5815_*6459del	ZG16	ENSG00000174992.8	transcript	ENST00000400752.6	protein_coding		3261		chr16	TogoVar

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