Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ASMT_chrX_1610059_1648081	1639899	TGTCCTGT others(240): Show TGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAG CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATG AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	223	0.0045	-247	c.911 others(17): Show c.911-2903_911-2657del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8			chrX	TogoVar
ASMT_chrX_1610059_1648081	1639983	CTCCTGTG others(240): Show CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	223	0.0045	-247	c.911 others(17): Show c.911-2805_911-2559del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
CBFA2T3_chr16_88869858_88982207	88954437	ATCCAAGG others(240): Show ATCCAAGGCTCCTGACCCCAGCCAAGTGTCCTGACCCCAGCCAAGGCTCC TGACCCCGCCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACTCCACCCA AGGCTCCTGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACC CCGCCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACTCCACCCAAGGCT CCTGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG06807.hp2 HG02723.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0032 a0001c0001t0001 a0001c0008t0032	a0001c0001t0001g0103 a0001c0008t0032g0146 a0001c0001t0001g0103 a0001c0008t0032g0146	2	284	0.0070	-247	c.151 others(19): Show c.151+21973_151+22219del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955330	GCCCAAGG others(240): Show GCCCAAGGCTCCTGACCTCACCCAAGGCTCCTGACTCCACCCAAGGCTCC TGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCACCCA AGGCTCCTGACCTCAGCCAAGACTCCTGACCCCACCCAAGGCTCCTGACC CCACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCACCCAAGGCT CCTGACCCCACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0029 a0001c0020t0029	a0001c0020t0029g0111 a0001c0020t0029g0111	1	284	0.0035	-247	c.151 others(19): Show c.151+21080_151+21326del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955540	CCCAAGGC others(240): Show CCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCACCCAAGGCTCCT GACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCTACCCAA GGCTCCTGACCCCACCCAAGGCTCCTGACCTCACCCAAGGCTCCTGACCC CACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCAGCCAAGGCTC CTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCAG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01261.hp2 HG02572.hp1 others(2): Show HG01123.hp1 HG01261.hp2 HG02572.hp1 HG03540.hp2 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0001 a0005c0012t0001 a0001c0001t0001 a0005c0012t0001	a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0145 others(2): Show a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0145 a0001c0001t0001g0186 a0005c0012t0001g0121	5	284	0.0176	-247	c.151 others(19): Show c.151+20870_151+21116del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CD247_chr1_167425640_167523529	167434903	TGGAGCCC others(240): Show TGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTC CAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCC GGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCC AGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTACCTCCA GCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	374	0.0027	-247	c.336 others(15): Show c.336+249_336+495del	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDH4_chr20_61247261_61945617	61944514	TTCTCACC others(240): Show TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACTGACGATGAGCATTGCGACTGTATGCACCGTGGCCGCCCCTTC TCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 NA18906.hp1 HG03195.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0012 a0003c0017 a0001c0012 a0003c0017	a0001c0012t0001 a0003c0017t0002 a0001c0012t0001 a0003c0017t0002	a0001c0012t0001g0008 a0003c0017t0002g0053 a0001c0012t0001g0008 a0003c0017t0002g0053	2	106	0.0189	-247	c.75 others(11): Show c.7572_*7818del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3898		chr20	TogoVar
CDH4_chr20_61247261_61945617	61944621	CGACGACG others(240): Show CGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCAC TGACGATGAGCATTGCGACTGTATGCACCGTGGCCGCCCCTTCTCACCGA CGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGA CGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGA CGACGAGGAGCACTGCGACCATCTGCACCGTGGCCGCCCCTTCTCACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01099.hp2 others(5): Show HG00738.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01496.hp2 HG03704.hp2 HG04115.hp2 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0021 a0001c0022 a0002c0005 others(2): Show a0001c0021 a0001c0022 a0002c0005 a0002c0015 a0002c0026	a0001c0021t0008 a0001c0022t0042 a0002c0005t0007 others(4): Show a0001c0021t0008 a0001c0022t0042 a0002c0005t0007 a0002c0005t0015 a0002c0005t0030 a0002c0015t0007 a0002c0026t0015	a0001c0021t0008g0047 a0001c0022t0042g0072 a0002c0005t0007g0097 others(5): Show a0001c0021t0008g0047 a0001c0022t0042g0072 a0002c0005t0007g0097 a0002c0005t0007g0100 a0002c0005t0015g0069 a0002c0005t0030g0103 a0002c0015t0007g0025 a0002c0026t0015g0079	8	106	0.0755	-247	c.76 others(11): Show c.7679_*7925del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4005		chr20	TogoVar
CHCHD6_chr3_126699240_126965420	126862788	CATCACCA others(240): Show CATCACCACCTTCCCCTCTACCACCATCACCAACTCCCCCTCCTCCACCA TCACCACCTCCTCCTCCACCATCACCACCTCCTCCTCCACCATCACTACC TCCTCCTCCTCCACCATCACCACCTCCTCCTCCTCCACCATCACCACCTT CCCCTCTACCACCATCACCAACTCCCCCTCCTCCACCATCACCACCTCCT CCTCCACCATCACCACCTCCTCCTCCACCATCACTACCTCCTCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	216	0.0046	-247	c.495 others(19): Show c.495+10059_495+10305del	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
COL18A1_chr21_45400165_45518720	45437111	ACTCACAC others(240): Show ACTCACACACAGACACACAGGCACTCTCCACACACACTCACACTCAGACA CAGGCACTCTCCTGCACACACACTCACACAGACACACAGGCACTCTCCTG CACACACACACACAGACACACAGGCACTCTCCTGTACACACACACACTCA CACACTCAGACACACAGGCACTCTCCTGCACACACACACACTCACACAGG CACTCTCCTGCACACACACACACTCAGACACACAGGCACTCTCCTGCG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00609.hp1 others(54): Show HG00423.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01891.hp2 HG01981.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02698.hp2 HG02735.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp2 NA18966.hp2 NA18977.hp1 NA18995.hp1 NA19002.hp2 NA19005.hp2 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19074.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0010 a0028 a0031	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0035 a0001c0041 a0001c0063 a0001c0087 a0001c0089 a0001c0090 a0001c0093 a0004c0023 a0004c0091 a0005c0036 a0010c0014 a0028c0097 a0031c0092	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 others(18): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0016 a0001c0005t0002 a0001c0005t0003 a0001c0005t0006 a0001c0005t0007 a0001c0035t0001 a0001c0041t0001 a0001c0063t0001 a0001c0087t0001 a0001c0089t0001 a0001c0090t0002 a0001c0093t0001 a0004c0023t0002 a0004c0091t0001 a0005c0036t0001 a0010c0014t0001 a0028c0097t0001 a0031c0092t0011	a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0052 others(54): Show a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0127 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0002t0002g0111 a0001c0002t0002g0137 a0001c0004t0001g0013 a0001c0004t0001g0018 a0001c0004t0001g0022 a0001c0004t0001g0026 a0001c0004t0001g0032 a0001c0004t0001g0064 a0001c0004t0001g0071 a0001c0004t0001g0087 a0001c0004t0001g0090 a0001c0004t0001g0112 a0001c0004t0001g0174 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0222 a0001c0004t0001g0225 a0001c0004t0001g0267 a0001c0004t0001g0271 a0001c0004t0001g0274 a0001c0004t0001g0290 a0001c0004t0016g0051 a0001c0005t0002g0070 a0001c0005t0002g0217 a0001c0005t0002g0224 a0001c0005t0002g0232 a0001c0005t0002g0239 a0001c0005t0002g0280 a0001c0005t0003g0211 a0001c0005t0006g0173 a0001c0005t0006g0218 a0001c0005t0007g0262 a0001c0005t0007g0263 a0001c0035t0001g0072 a0001c0035t0001g0073 a0001c0041t0001g0155 a0001c0063t0001g0144 a0001c0087t0001g0055 a0001c0089t0001g0119 a0001c0090t0002g0089 a0001c0093t0001g0251 a0004c0023t0002g0138 a0004c0023t0002g0163 a0004c0091t0001g0056 a0005c0036t0001g0245 a0005c0036t0001g0292 a0010c0014t0001g0265 a0010c0014t0001g0275 a0010c0014t0001g0279 a0028c0097t0001g0036 a0031c0092t0011g0190	57	292	0.1952	-247	c.107 others(19): Show c.107-31129_107-30883del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
CSF2RA_chrX_1263814_1314935	1314509	GCACTGCA others(240): Show GCACTGCACCTGCCCAATCCCACTGCACCTGCCCAATCCCACTGCACCTG CCCAATCCCACTGCACCTGCCCAACCCCACTGCACCTGCCCAACCCCACT GCACCTGCCCAACCACACTGAACCTGCTCAACCCCACTTCACCTGCCCAA CTGCACTGCACTTGCCCAACCCCTCTGTGCCTGCCCAACCCCACTGTGCC TGCCCAATCGCACTGCACCTGCCCAATCCCACTGCACCTGCCCAATCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01346.hp2 HG01952.hp2 others(17): Show HG00408.hp2 HG01346.hp2 HG01952.hp2 HG02129.hp1 HG02630.hp1 HG03491.hp1 HG03516.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18943.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA19005.hp1 NA19011.hp2 NA19062.hp1 NA19082.hp1 NA19087.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0012	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0010c0012 a0012c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0002t0004 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0010c0012t0004 a0012c0011t0010	a0001c0001t0001g0014 a0001c0001t0001g0070 a0001c0001t0001g0115 others(17): Show a0001c0001t0001g0014 a0001c0001t0001g0070 a0001c0001t0001g0115 a0001c0001t0002g0026 a0001c0001t0002g0036 a0001c0001t0002g0069 a0001c0001t0002g0079 a0001c0001t0003g0024 a0001c0001t0003g0151 a0001c0002t0003g0080 a0001c0002t0004g0038 a0001c0002t0004g0058 a0001c0002t0004g0063 a0001c0002t0004g0083 a0001c0002t0004g0110 a0002c0003t0001g0144 a0002c0003t0002g0140 a0002c0003t0004g0131 a0010c0012t0004g0089 a0012c0011t0010g0054	20	159	0.1258	-247	c.50 others(11): Show c.5031_*5277del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4575		chrX	TogoVar
DAGLB_chr7_6404129_6452954	6421309	AGGCAGCG others(240): Show AGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG GCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCG GGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAG CGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAG GCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0166 a0001c0015t0002g0166	1	380	0.0026	-247	c.121 others(17): Show c.1218+171_1218+417del	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DDX24_chr14_94043287_94086202	94082223	AATCCAAA others(240): Show AATCCAAAGCAAGGCCCTGATTCTCTTCTATTCTATGATGACTGAGAGAG GTGAGGAAGCTATAGAAGTTTGAAGCTAGAAGAGATTATTTCATGAGGTT TAAGGAAAGAAGCCGTCTCCAGAACATGAAAGTGTAAGATGAGGCAGCAA ATGCTGATGGAGAAGCTGCAGCAAGTTATCCCCAAGATCTAGGTAAGATC GTTGATGAAGGTGGCCACTGAACAGCAAGTAGTCAATGTAGACAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0011 a0014c0013t0011	a0014c0013t0011g0185 a0014c0013t0011g0185	1	371	0.0027	-247	c.-13 others(11): Show c.-1357_-1111del	DDX24	ENSG00000089737.19	transcript	ENST00000621632.5	protein_coding		1022		chr14	TogoVar
DDX51_chr12_132131594_132149319	132135986	CCCCGAGT others(240): Show CCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCC GGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTC CCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGT GTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCC CGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-247	c.30 others(11): Show c.3039_*3285del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		607		chr12	TogoVar
DENND1A_chr9_123374658_123935126	123405421	TTCCTGCC others(240): Show TTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGG CACACACTCCACTTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGG AAGGGAAGCAGGCACACACTGCACTTCCTGCCCACCCTTTGAGTTTCCAG GACAAGACAGGGAAGGGAAGCAGGCACACACTCCACCTCCTGCCCACCCT TTGAGTTTCCAGGACAAGACAGGGAAGGGAGCAGGCACACACTCCACC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01069.hp2 HG01099.hp2 others(26): Show HG00597.hp2 HG01069.hp2 HG01099.hp2 HG01192.hp2 HG01884.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02080.hp1 HG02109.hp2 HG02165.hp1 HG02258.hp1 HG02559.hp2 HG02683.hp2 HG02809.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03471.hp2 HG03491.hp1 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0007 a0002c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0020 a0001c0003t0010 a0002c0007t0001 a0002c0015t0011	a0001c0001t0001g0055 a0001c0001t0001g0109 a0001c0001t0001g0111 others(26): Show a0001c0001t0001g0055 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0002g0092 a0001c0001t0003g0132 a0001c0001t0004g0010 a0001c0001t0004g0075 a0001c0001t0004g0080 a0001c0001t0004g0156 a0001c0001t0004g0159 a0001c0002t0001g0026 a0001c0002t0001g0043 a0001c0002t0003g0022 a0001c0002t0003g0102 a0001c0002t0004g0015 a0001c0002t0004g0018 a0001c0002t0004g0042 a0001c0002t0004g0047 a0001c0002t0004g0088 a0001c0002t0004g0099 a0001c0002t0004g0112 a0001c0002t0020g0017 a0001c0003t0010g0148 a0001c0003t0010g0151 a0001c0003t0010g0153 a0002c0007t0001g0121 a0002c0007t0001g0129 a0002c0007t0001g0135 a0002c0015t0011g0161	29	162	0.1790	-247	c.154 others(19): Show c.1543-2178_1543-1932del	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	20/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123405607	CTCCTGCC others(240): Show CTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAGCAGGC ACACACTCCACCTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGA AGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGTTTCCAGG ACAAGACAGGGAAGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCTT TGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTCCACT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02040.hp1 others(12): Show HG01109.hp2 HG01243.hp2 HG02040.hp1 HG02056.hp1 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG06807.hp1 NA18965.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0012	a0001c0002t0009 a0001c0002t0018 a0001c0003t0009 others(5): Show a0001c0002t0009 a0001c0002t0018 a0001c0003t0009 a0001c0004t0009 a0001c0005t0005 a0001c0008t0001 a0001c0008t0007 a0001c0012t0007	a0001c0002t0009g0037 a0001c0002t0018g0028 a0001c0003t0009g0117 others(12): Show a0001c0002t0009g0037 a0001c0002t0018g0028 a0001c0003t0009g0117 a0001c0004t0009g0158 a0001c0005t0005g0123 a0001c0005t0005g0125 a0001c0005t0005g0128 a0001c0005t0005g0130 a0001c0005t0005g0131 a0001c0005t0005g0133 a0001c0005t0005g0134 a0001c0008t0001g0064 a0001c0008t0007g0093 a0001c0012t0007g0113 a0001c0012t0007g0141	15	162	0.0926	-247	c.154 others(19): Show c.1543-2364_1543-2118del	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	20/23			chr9	TogoVar
DLGAP2_chr8_732628_1713476	1247810	GAGTCTGA others(240): Show GAGTCTGATGGTCCACGTCGGTGGCCAGCAAGACCTTTGACATCAGTGTG GGAGTGATGGCCCACGTCGGTGGCCAGGAAGACCTTTGAGATCAGTGTGT GAGTCTGATGGCCCACGTCGGTGGCTGGGAAGACATTTGAGATCAGTGTG GAGTGATGGTCCACGTTGGTGGCCGGGAAGACCTTTGAGATCAGTGTGGG AGTCTGATGGCCCACGTCGGTGGCTGGGAAGACATTTGAGATCAGTGT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0031 a0003c0005t0002g0031	1	40	0.0250	-247	c.74- others(17): Show c.74-11040_74-10794del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1710711	CAGCACCA others(240): Show CAGCACCACTGGTTACCTAGCTATAATGCACACCTAACACCCTACTTCGT CCAACTGCAGCAGAACACACAGGCTTCCCAAGCTACACTCTGGGCTATGA AACACACCTTAACAGATGTAAAAGAAGCACCACTGGTTACCTAGCTATAA TGCACACCTAACACCCTACTTCGTCCAACTGCAGCAGAACACACATGCTT CCCAAGCTACACTCTGGGCTATGAAACACACTTTAAAAATGTAAAAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	-247	c.93 others(11): Show c.9306_*9552del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding		2236		chr8	TogoVar
ERICH1_chr8_659200_736224	675321	GTGAGGAC others(240): Show GTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAG ACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGA CAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	378	0.0027	-247	c.305 others(17): Show c.305-1521_305-1275del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675540	CGGCGAGG others(240): Show CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGA CAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01358.hp1 NA18747.hp1 others(2): Show HG01257.hp1 HG01358.hp1 NA18747.hp1 NA18960.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0013 a0001c0002t0001g0080 a0001c0002t0001g0081 others(2): Show a0001c0002t0001g0013 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0002g0265	5	378	0.0132	-247	c.305 others(17): Show c.305-1740_305-1494del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675761	TGAGGACA others(240): Show TGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGCCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGA CGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACA GAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGGC	T T	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0332 a0001c0001t0002g0332	1	378	0.0027	-247	c.305 others(17): Show c.305-1961_305-1715del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
FOXN3_chr14_89151177_89422233	89361234	CCACCACC others(240): Show CCACCACCACCTCCAGCACCACCTCCACCACCACCACCACCTCCACCACC ACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCTCCAC CACCACCACCTCCAGCACCACCTCCACCACCACCTCCAGCACCACCTCCA CCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCACCACCACC TCCTACCACTACCACCTCCAGCACCACCTCCACCACCACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0216 a0001c0001t0009g0216	1	230	0.0044	-247	c.544 others(19): Show c.544-10673_544-10427del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
HCN1_chr5_45249948_45701380	45373680	AATATATT others(240): Show AATATATTACATACGGTATATACGTCATCTATAATATATTACGGTATATA CGTCATCTATAATATATTACATACGGTATATACGTCATCTATAATATATT ACATACGGTATATACGTCATCTATAATATATTACATACGGTATATACGTC ATCTATAATATATTACATACGGTATATACGTCATCTATAATATATTACAT ACGGTATATATGTCATCTATAATATATTACATACGGTATATACATCAT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	226	0.0044	-247	c.123 others(21): Show c.1231-20681_1231-20435del	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
IFI27L1_chr14_94076310_94107709	94082223	AATCCAAA others(240): Show AATCCAAAGCAAGGCCCTGATTCTCTTCTATTCTATGATGACTGAGAGAG GTGAGGAAGCTATAGAAGTTTGAAGCTAGAAGAGATTATTTCATGAGGTT TAAGGAAAGAAGCCGTCTCCAGAACATGAAAGTGTAAGATGAGGCAGCAA ATGCTGATGGAGAAGCTGCAGCAAGTTATCCCCAAGATCTAGGTAAGATC GTTGATGAAGGTGGCCACTGAACAGCAAGTAGTCAATGTAGACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	447	0.0022	-247	c.-52 others(16): Show c.-52+776_-52+1022del	IFI27L1	ENSG00000165948.11	transcript	ENST00000555523.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
LHFPL3_chr7_104323603_104913561	104550127	TTGGAGAA others(240): Show TTGGAGAAGGTCAGTCTTTGTTCTACTAAGGCTTCCAAAAAATTGGATGA TGCTCACCCACATTAGGAATTTGCTTTACTCAAAGTCCACCAATTTAAAT AATAATCTCATCCAAAAAACACCATCACAGAAACATCCAGAATAATGCCT GACCAAATACCTGGGCACCATGGCCCAACTAGGTAGACACATAAAGTTAA CCATCACAGCAGTCATTTTTGTTCTGGGGAGAAGAATAGAGAGTGGGA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0007 a0001c0001t0010g0007	1	86	0.0116	-247	c.446 others(21): Show c.446-186544_446-186298del	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124507463	GAGGATTT others(240): Show GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGG AGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAG TATTTCAGGTGGGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGAC	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	260	0.0039	-247	c.624 others(17): Show c.624+9349_625-9457del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507549	TGTGGAGG others(240): Show TGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGT GTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGT GGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGACAGGATTTCAGGTG TGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGT GGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0004 a0003c0003t0002g0004	1	260	0.0039	-247	c.624 others(17): Show c.624+9423_625-9383del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507586	GAGTATTT others(240): Show GAGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGAC AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAG TATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0259 a0003c0003t0002g0259	1	260	0.0039	-247	c.624 others(17): Show c.624+9461_625-9345del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LSS_chr21_46183446_46233774	46183550	GCGGGGAG others(240): Show GCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGAGACCAGCC TGGGGGAGGAGACCAGCCTTGTGGGGGAGACCAGCCTGCGGGGGAGACCA GCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGAGA CCAGCCTGGGGGAGGAGACCAGCTTGCGGGGGAGACCAGCCTGCGGGGGA GACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01884.hp1 HG01884.hp2 others(22): Show HG01074.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG06807.hp2 NA19043.hp2 NA20300.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0015c0017	a0001c0001t0001 a0001c0004t0003 a0001c0004t0007 others(5): Show a0001c0001t0001 a0001c0004t0003 a0001c0004t0007 a0001c0005t0001 a0001c0005t0009 a0001c0005t0024 a0001c0006t0007 a0015c0017t0009	a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0004t0003g0130 others(18): Show a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0004t0003g0130 a0001c0004t0003g0144 a0001c0004t0007g0145 a0001c0005t0001g0005 a0001c0005t0001g0040 a0001c0005t0001g0269 a0001c0005t0001g0270 a0001c0005t0001g0277 a0001c0005t0001g0278 a0001c0005t0001g0279 a0001c0005t0001g0282 a0001c0005t0001g0283 a0001c0005t0009g0273 a0001c0005t0009g0274 a0001c0005t0009g0280 a0001c0005t0009g0281 a0001c0005t0024g0275 a0001c0006t0007g0247 a0015c0017t0009g0271	25	358	0.0698	-247	c.73 others(11): Show c.7307_*7553del	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		4895		chr21	TogoVar
LYPD8_chr1_248734415_248760759	248752784	CCACACAC others(240): Show CCACACACACACCACACCCCACAACACACACACATCACATCACACACACC ACACCCCACACACACACACCACACCACACACACACCACACACCCCACACA ACACATACACACATCACACACACCCCACACACCAACACACCACATCACAC ACACACCACATCACACACACACCAAACACCCCACACAACACACACACAAC ACAACACACACACAAACACACCACATCATACACACACCACACACCCCA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp1 HG02451.hp2 others(2): Show HG01361.hp2 HG01884.hp1 HG02451.hp2 HG02622.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 others(2): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142	5	374	0.0134	-247	c.-49 others(17): Show c.-49-1901_-49-1655del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	2/6			chr1	TogoVar
MLPH_chr2_237482251_237560322	237544524	GGGGGGAC others(240): Show GGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATT GTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCA GTGGTGATTGGGCACTGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGA CAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCA CGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGA	G G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	286	0.0035	-247	c.153 others(19): Show c.1539+1870_1540-1831del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYT1_chr20_64159452_64247253	64174498	GTAGTTGT others(240): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0127 a0001c0001t0008g0127	1	223	0.0045	-247	c.-99 others(18): Show c.-99+9787_-99+10033del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174548	CCTGTAGT others(240): Show CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	223	0.0045	-247	c.-99 others(18): Show c.-99+9810_-99+10056del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYT1_chr20_64159452_64247253	64175498	GTAGTTGT others(240): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0108 a0001c0002t0005g0109 a0001c0002t0005g0108 a0001c0002t0005g0109	2	223	0.0090	-247	c.-99 others(19): Show c.-99+10787_-99+11033del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NKD2_chr5_1003802_1043943	1025586	GTCTCAGC others(240): Show GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCC CGTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCTCAGCCCATTGTCCC TGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCC CACCCGCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTG TGGGTGCCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTAGTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02015.hp1 HG01074.hp2 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0221 a0001c0001t0001g0049 a0001c0001t0001g0221	2	319	0.0063	-247	c.142 others(17): Show c.142-6534_142-6288del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NXN_chr17_794310_984776	948993	CCCGGGCT others(240): Show CCCGGGCTCCTCCTCTCCCCCCGGGCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCGGC CTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCGCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGCGGCCTCCT CCTCTCCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	242	0.0041	-247	c.360 others(19): Show c.360+30079_360+30325del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PARVB_chr22_44019302_44177939	44113935	AACTAAGG others(240): Show AACTAAGGCCCTGCACCAGCACAGATATATTGTTACTAAGGCCCTGCACC AACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACAGATATGT TGTTACTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGTAAGGCC CTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACA GATACGTTGTTACTAAGTATGGCCCTGCACCAACACAGATACATTGTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(109): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01109.hp2 HG01167.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18955.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp2 NA19074.hp1 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0009 a0011	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0002c0003 a0003c0006 a0003c0033 a0005c0014 a0009c0026 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0033 a0001c0001t0038 a0001c0001t0050 a0001c0001t0057 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0081 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0015 a0001c0002t0017 a0001c0002t0021 a0001c0002t0025 a0001c0002t0040 a0001c0002t0044 a0001c0002t0062 a0001c0002t0066 a0001c0004t0001 a0001c0004t0005 a0001c0015t0029 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0012 a0002c0003t0014 a0002c0003t0017 a0002c0003t0032 a0002c0003t0079 a0003c0006t0003 a0003c0006t0046 a0003c0033t0002 a0005c0014t0083 a0009c0026t0001 a0011c0010t0031	a0001c0001t0001g0005 a0001c0001t0001g0069 a0001c0001t0001g0096 others(109): Show a0001c0001t0001g0005 a0001c0001t0001g0069 a0001c0001t0001g0096 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0273 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0015 a0001c0001t0002g0068 a0001c0001t0002g0216 a0001c0001t0002g0228 a0001c0001t0002g0256 a0001c0001t0002g0272 a0001c0001t0002g0290 a0001c0001t0002g0310 a0001c0001t0003g0144 a0001c0001t0003g0328 a0001c0001t0004g0229 a0001c0001t0004g0236 a0001c0001t0004g0241 a0001c0001t0004g0269 a0001c0001t0004g0293 a0001c0001t0004g0300 a0001c0001t0005g0058 a0001c0001t0005g0227 a0001c0001t0005g0257 a0001c0001t0005g0268 a0001c0001t0005g0306 a0001c0001t0006g0187 a0001c0001t0007g0221 a0001c0001t0007g0238 a0001c0001t0007g0303 a0001c0001t0008g0013 a0001c0001t0008g0231 a0001c0001t0008g0259 a0001c0001t0009g0091 a0001c0001t0009g0154 a0001c0001t0010g0137 a0001c0001t0010g0322 a0001c0001t0011g0288 a0001c0001t0011g0296 a0001c0001t0012g0037 a0001c0001t0013g0124 a0001c0001t0013g0184 a0001c0001t0014g0109 a0001c0001t0014g0131 a0001c0001t0016g0185 a0001c0001t0016g0188 a0001c0001t0017g0081 a0001c0001t0021g0090 a0001c0001t0023g0205 a0001c0001t0024g0076 a0001c0001t0024g0181 a0001c0001t0026g0313 a0001c0001t0033g0209 a0001c0001t0038g0292 a0001c0001t0050g0218 a0001c0001t0057g0117 a0001c0001t0074g0132 a0001c0001t0076g0261 a0001c0001t0077g0307 a0001c0001t0081g0103 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0055 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0224 a0001c0002t0001g0251 a0001c0002t0005g0194 a0001c0002t0006g0101 a0001c0002t0006g0134 a0001c0002t0006g0168 a0001c0002t0007g0002 a0001c0002t0009g0138 a0001c0002t0009g0191 a0001c0002t0015g0327 a0001c0002t0017g0278 a0001c0002t0021g0092 a0001c0002t0025g0100 a0001c0002t0025g0128 a0001c0002t0040g0189 a0001c0002t0044g0018 a0001c0002t0062g0077 a0001c0002t0066g0105 a0001c0004t0001g0097 a0001c0004t0001g0180 a0001c0004t0001g0289 a0001c0004t0005g0098 a0001c0015t0029g0139 a0002c0003t0001g0047 a0002c0003t0001g0063 a0002c0003t0001g0240 a0002c0003t0003g0038 a0002c0003t0006g0112 a0002c0003t0012g0040 a0002c0003t0012g0041 a0002c0003t0014g0046 a0002c0003t0017g0242 a0002c0003t0032g0152 a0002c0003t0079g0044 a0003c0006t0003g0104 a0003c0006t0046g0318 a0003c0033t0002g0195 a0005c0014t0083g0197 a0009c0026t0001g0277 a0011c0010t0031g0179	112	332	0.3374	-247	c.274 others(17): Show c.274-5085_274-4839del	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PCGF3_chr4_700832_775089	731656	GCCCCTCG others(240): Show GCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCCCCC TCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCCCCT CCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCCCCTC CCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCCCCTCC CCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCCCCCT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03579.hp2 HG02257.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0020 a0001c0001t0007 a0001c0004t0020	a0001c0001t0007g0120 a0001c0004t0020g0118 a0001c0001t0007g0120 a0001c0004t0020g0118	2	366	0.0055	-247	c.-10 others(15): Show c.-10+691_-10+937del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	731801	CCCTCCCC others(240): Show CCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCC CCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCCC CCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCCC CCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCCC CTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0119 a0001c0001t0004g0119	1	366	0.0027	-247	c.-10 others(16): Show c.-10+792_-10+1038del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PPP1R8_chr1_27825782_27856676	27853838	GGAGGTGG others(240): Show GGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGG AGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01071.hp2 others(44): Show HG00639.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0004t0001	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 others(38): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0119 a0001c0001t0006g0055 a0001c0001t0008g0063 a0001c0004t0001g0026	47	340	0.1382	-247	c.33 others(11): Show c.3393_*3639del	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		2163		chr1	TogoVar
PRDM15_chr21_41793225_41884344	41806066	TCACCACC others(240): Show TCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCACC ACCACCACCATCACCACCACCATCACCACCACCACCACCATCACCATCAC CACCACCATCACCACCACCACCATCACCACCACCACCATCACCATCACCA TCACCATCACCACCATCACTACCACCATCACCACCACCACCATCACCACC ACCCATCACCACCACCACCATCACCATCACCACCACCATCACCACCAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00639.hp2 others(43): Show HG00140.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01123.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02129.hp2 HG02145.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02602.hp1 HG03239.hp2 HG03688.hp1 HG03704.hp2 HG04184.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp2 NA18960.hp2 NA18973.hp2 NA18983.hp1 NA18998.hp2 NA19009.hp1 NA19091.hp2 NA20300.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0009 a0010	a0001c0003 a0001c0005 a0001c0017 others(6): Show a0001c0003 a0001c0005 a0001c0017 a0001c0031 a0001c0036 a0004c0033 a0005c0041 a0009c0032 a0010c0029	a0001c0003t0001 a0001c0003t0032 a0001c0003t0033 others(9): Show a0001c0003t0001 a0001c0003t0032 a0001c0003t0033 a0001c0003t0035 a0001c0005t0002 a0001c0017t0001 a0001c0031t0020 a0001c0036t0001 a0004c0033t0001 a0005c0041t0001 a0009c0032t0001 a0010c0029t0001	a0001c0003t0001g0001 a0001c0003t0001g0024 a0001c0003t0001g0025 others(42): Show a0001c0003t0001g0001 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0076 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0093 a0001c0003t0001g0096 a0001c0003t0001g0102 a0001c0003t0001g0252 a0001c0003t0001g0270 a0001c0003t0001g0272 a0001c0003t0001g0275 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0032g0022 a0001c0003t0033g0056 a0001c0003t0035g0075 a0001c0005t0002g0274 a0001c0017t0001g0273 a0001c0017t0001g0276 a0001c0017t0001g0278 a0001c0017t0001g0282 a0001c0031t0020g0126 a0001c0036t0001g0033 a0004c0033t0001g0042 a0005c0041t0001g0163 a0009c0032t0001g0043 a0010c0029t0001g0366	46	406	0.1133	-247	c.265 others(19): Show c.2653-1699_2653-1453del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
RASGEF1C_chr5_180095795_180214211	180113229	AGGGGATG others(240): Show AGGGGATGGACGGAGGGACCGAGGATGGACGGAGGGACCGAGGATGGACG GAGGGATCCAGGATGGACGGAGGGACCGGGGATGGACGGAGGGACCGGGG ATGGACGGAGGGACCGGGGATGGACTGAGGGATCCGGGATGGACGGAGGG ACCGGGGATGGACGGAGGGACCGGGGATGGACGGAGGGATCGGGGATGGA TGGAGGGATCCGGGATGGACGGAGGGACCGGGGATGGACGGAGTGACC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0081 a0001c0002t0081	a0001c0002t0081g0363 a0001c0002t0081g0363	1	370	0.0027	-247	c.117 others(18): Show c.1179+970_1179+1216del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
RASGEF1C_chr5_180095795_180214211	180113266	CCGAGGAT others(240): Show CCGAGGATGGACGGAGGGATCCAGGATGGACGGAGGGACCGGGGATGGAC GGAGGGACCGGGGATGGACGGAGGGACCGGGGATGGACTGAGGGATCCGG GATGGACGGAGGGACCGGGGATGGACGGAGGGACCGGGGATGGACGGAGG GATCGGGGATGGATGGAGGGATCCGGGATGGACGGAGGGACCGGGGATGG ACGGAGTGACCGGGGATGGACGGAGGGACCGGGGATGGACGGAGGGAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0251 a0001c0001t0003g0251	1	370	0.0027	-247	c.117 others(18): Show c.1179+933_1179+1179del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1289843	CCGTGTCC others(240): Show CCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	290	0.0035	-247	c.166 others(17): Show c.1663-426_1663-180del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SENP1_chr12_48037897_48111079	48056778	TATTACAT others(240): Show TATTACATATATATTATTTAATATATTACATATTACATATATAAATATAT TTAACATATTACATATTACATATATATTATTTAATATATTACATATTACA TATATAATATATTATTTAATATATTACATATTACATATATAATATATTAT TTAATATATTACATATTACATATATAATATATTATTTAATATATTACATA TTACATATATAAATATATTATTTAATATATTACATATTACATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0151 a0001c0003t0008g0151	1	394	0.0025	-247	c.140 others(19): Show c.1407+6685_1407+6931del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SIGIRR_chr11_400716_419999	411029	AGGGGGGT others(240): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCA GCTCTGACCATGTCTGGATGCAGTCGGGCGGGGGGGGTGCTCAGCTCTGA CCATGTCTGGATGCAGTCGGGGAGGGGGGTGCCCAGCTCTGACCATGTCT GGATACAGTCGGGGGGGGGGGTGCCCAGCTCTGAACATGTCTGGATACAG TCGGGGAGGGGTGCTCAGCTCTGACCATGTCTGGATACAGTCGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03540.hp2 HG04204.hp1 others(1): Show HG02717.hp2 HG03540.hp2 HG04204.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0157 others(1): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0157 a0001c0001t0004g0238	4	242	0.0165	-247	c.-15 others(19): Show c.-153-1249_-153-1003del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC22A1_chr6_160116815_160163718	160125527	GTGCTAAG others(240): Show GTGCTAAGATCATGAGGTCCACTCAGGGAGGGATGTGGGCATTTTCCTGG CTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCACGAGG TCCACTCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACA AGAGGATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGGAGGATGT GGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTTC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp2 HG02922.hp1 others(2): Show HG02622.hp1 HG02895.hp2 HG02922.hp1 HG03453.hp2 HG03471.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0018 a0002c0003 a0005c0018	a0002c0003t0001 a0005c0018t0001 a0002c0003t0001 a0005c0018t0001	a0002c0003t0001g0035 a0002c0003t0001g0184 a0005c0018t0001g0036 a0002c0003t0001g0035 a0002c0003t0001g0184 a0005c0018t0001g0036	5	416	0.0120	-247	c.411 others(17): Show c.411+3205_411+3451del	SLC22A1	ENSG00000175003.15	transcript	ENST00000366963.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC9A3_chr5_465456_529449	495379	TCCCCGCG others(240): Show TCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGC CGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGC TCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCC ATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCC CACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02040.hp1 HG02129.hp2 others(3): Show HG01496.hp1 HG02040.hp1 HG02129.hp2 NA18939.hp2 NA18963.hp1 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0018 a0001c0001 a0002c0002 a0002c0018	a0001c0001t0001 a0002c0002t0002 a0002c0018t0002 a0001c0001t0001 a0002c0002t0002 a0002c0018t0002	a0001c0001t0001g0146 a0002c0002t0002g0015 a0002c0002t0002g0058 others(3): Show a0001c0001t0001g0146 a0002c0002t0002g0015 a0002c0002t0002g0058 a0002c0002t0002g0063 a0002c0002t0002g0082 a0002c0018t0002g0048	6	218	0.0275	-247	c.212 others(17): Show c.212-3555_212-3309del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SPATC1L_chr21_46156160_46189459	46183550	GCGGGGAG others(240): Show GCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGAGACCAGCC TGGGGGAGGAGACCAGCCTTGTGGGGGAGACCAGCCTGCGGGGGAGACCA GCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGAGA CCAGCCTGGGGGAGGAGACCAGCTTGCGGGGGAGACCAGCCTGCGGGGGA GACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGT	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG01074.hp2 HG01884.hp1 HG01884.hp2 others(21): Show HG01074.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02723.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG06807.hp1 NA19043.hp2 NA20300.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0007 a0002c0002 a0007c0007	a0002c0002t0003 a0002c0002t0026 a0002c0002t0027 others(1): Show a0002c0002t0003 a0002c0002t0026 a0002c0002t0027 a0007c0007t0014	a0002c0002t0003g0004 a0002c0002t0003g0009 a0002c0002t0003g0042 others(17): Show a0002c0002t0003g0004 a0002c0002t0003g0009 a0002c0002t0003g0042 a0002c0002t0003g0044 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0026g0043 a0002c0002t0027g0045 a0007c0007t0014g0054 a0007c0007t0014g0055 a0007c0007t0014g0059	24	251	0.0956	-247	c.-95 others(12): Show c.-958-23_-735del	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/5	735		chr21	TogoVar
STARD13_chr13_33098137_33290755	33177739	GAAGGAAG others(240): Show GAAGGAAGGAAAAAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0066 a0004c0009t0002g0066	1	302	0.0033	-247	c.170 others(19): Show c.170-10364_170-10118del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar

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