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
TAFA5_chr22_48484553_48756932	48679147	CCATCCCT others(468): Show CCATCCCTCTCCCGGCTCGGCGTCCATCCCTCTCCCGGCTCCCTGTCCAT CCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTGGCTCCCCAGCTCCCCGT CCATCCCTCTCCCGGCTCCCCATCCATCCCTCTTCCGGCTCCCCGTCCAT CCCTCTCCGGGCTCCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCT CTCCGGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCC CGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCGGGC TCCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCC CGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTC CATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATC CCTCTCCGGGCTCCCCGTCCATCCCT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02055.hp1 HG02145.hp1 others(5): Show HG01943.hp2 HG02055.hp1 HG02145.hp1 HG02572.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0036	a0001c0001t0001g0153 a0001c0001t0002g0025 a0001c0001t0002g0057 others(5): Show a0001c0001t0001g0153 a0001c0001t0002g0025 a0001c0001t0002g0057 a0001c0001t0002g0162 a0001c0001t0002g0191 a0001c0001t0003g0008 a0001c0001t0003g0160 a0001c0001t0036g0190	8	258	0.0310	-475	c.263 others(19): Show c.263-28568_263-28094del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
VMP1_chr17_59702654_59847255	59842880	TGCTCCGT others(468): Show TGCTCCGTCGCCCAGGCTAGAGTGCAATGGTACAATCTCGGCTCACTGCC ACTTCCGCCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGCCTCTGGAGTA GTTGGGATTCCAGGCGCCCACCACCACACCAGGCTAGTTTTTGTATTTTT AGTAGAGACGGGGTTTGGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGA CCTGAGGTGATCCACCTGCCTCGGTCTCCCAAAGTTCTGGGTTCACAGAC GTGAGCCACCATGCCCACGTAGAATGAAGTTTCTTAAATACACTAGTTAA TTATTGAAACATATGCAGTATTGAGTGCTCCTACACAAACACGCTCAGCC TCTGCCCCCAGTGTGCTCTGTGCTATCCACAGCCTTAGTAGAACATGAGG CTTTTTGTCATTTCACCAGTCATTCAATAATGACTCATTTGAGTATGGAT CATGCACTAGCTAAATAACCAGTTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01884.hp1 HG01952.hp2 others(5): Show HG01099.hp1 HG01884.hp1 HG01952.hp2 HG02886.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011	8	286	0.0280	-475	c.29 others(11): Show c.2970_*3444del	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding		626		chr17	TogoVar
BFSP2_chr3_133395056_133480208	133415222	CCTCACCT others(467): Show CCTCACCTCTGTCCTCTCCCCTCTACTCACCCCTGCCCCCTCTGCTCTAC TCACCCCTCTACTCACCCTTGCCCTCTCCCCTCTACTCGCCCCTGTCCTT TCCCCTCTACTCACCCGTGTCCTCTCCCCTCTACTCACCCCTCTACTCAA CCCTGCCCTCTCCCCTCCACAAACCCCTCTACTCACCCCTGTCCTCTCCC CTCTACTCAACCCTGTCCTCTCCTCTCTACTCACTCCTGTCCTCTCCCCT CTACTCACCCCTATAGTCACCCCTGCCCTCTCCCTATTCACCCCGTCCTC TCCCCTCTACTCAGCCATGTTCTCTCCCCTCTACTCACCCCTGCCCCCTC CGCTCTACTCACCCCTGCCCCCTCCGCTCTACTCACCCCTCTACTCATCC CTGCCCTCTCCCCTCTACTTACCCGTCATCTCCCCTCTACTCACACCTGC CATTTCCCCTCTACTCACCCCTCTA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02055.hp2 others(9): Show HG01243.hp1 HG01891.hp2 HG02055.hp2 HG02451.hp2 HG02572.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02976.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0024 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0129 a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0268 a0001c0002t0001g0053	12	276	0.0435	-474	c.489 others(19): Show c.489+14657_489+15130del	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CA10_chr17_51625320_52163714	52044808	AGAACCTC others(467): Show AGAACCTCAACAACTTGTGAAACACTATCAAGCAATCTAAGATATGTATA ACTAGAATCCCAGAAGGAATTGAGATTGGAAAGTGGGTGATGGTAACAAC TGTGAAGAAATCATGGCCAAATCTTTCCAAATTTTATGAAGACCTATAAA TCCAAGAAGCTCAATGAACCATAAAAAATTGAACATAAATAAAACCACAA TAAGATGCATCATAACAAAATAAATGAAAACCAGAACAAAGAAAAAATCT TAGAAGTGGGCAAACTAAAAAATATATTACATACAGAGATACAAAGGTAA GAATGCTAGTAAACTTACTTAAAACTACGCAAAACAAAACTAACTGATGC AATATCAAATACAGAAAACCAACCATCAACCTACTTAGATTTTATTATCT AGTAAAAACACATTTTATAAATAAAGGTTAAATAAAGCCCATTTCAGAAA AAAATATATAAAAACATTCATTGCC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18950.hp1 NA18982.hp1 others(1): Show HG00544.hp1 NA18950.hp1 NA18982.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0128 a0001c0001t0002g0148 a0001c0002t0001g0055 others(1): Show a0001c0001t0002g0128 a0001c0001t0002g0148 a0001c0002t0001g0055 a0001c0002t0001g0131	4	156	0.0256	-474	c.136 others(19): Show c.136+27037_136+27510del	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	2/8			chr17	TogoVar
CPLANE1_chr5_37101235_37254376	37143762	TGTCTCTA others(467): Show TGTCTCTACTAAAAACACAAAAAATTTGCCAGTGGTGGTGGCACACGCCT GTAATCACAGCTACTTGGAAGGCTGAGACAGGAGAATCACTTGAACCTGC GAGGCAGGGGATGTGGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGG ACAACAAGAGCAAAACTCTGTCTCGAAAAAAAAAAAAAAAAGATATAAGG AACAGAGTGAGGAGGTCCAACATGCCTCTATTAGGTGTTTTAGAGAGAAA AGAAAAAATGGGGAGGAAGCAGTACTTCAAAATATTATGGGTGAAAAGTC CCCAAAGTTAAATCTTAAAACTAAAGAATCATTCCTACTCCAATATAAGG TAAATAAAAGAAATACGGTCAGGCACGGTGGCTCACGCTTGTAATCCCAG CACTTTGGGAGGCCAAGGTGGGCGGATCATGAGATCAGGAGATTGAGACC ATCCTGGTTAACACGGTGAAAACCC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02922.hp2 HG01346.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0007 a0001c0001t0006g0006 a0001c0001t0006g0007	2	268	0.0075	-474	c.846 others(19): Show c.8462-1756_8462-1283del	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	43/52			chr5	TogoVar
CPNE7_chr16_89570758_89602246	89579797	GGAACATC others(467): Show GGAACATCTCACCCGTCACACGGAACATCCCACACCCATCACACGGAACA TCTCACCCATCACACGGAACATCCCGTCACCTGCTGACACGGAACATCTC ACCCATCACACGGAACATCCCGTCACCCGCTGACACAGAACATCTCACCC GTCACATGGAACATCCCGTCACCCGTCACACGGAACATCCCATCACACGG AACATCTCACCCATCACACGGAACATCCTGTCACCCGCTGACACGGAACA TCTCACCCGTCACACGGAACATCCCATCACCTGCAGACACGGAACATCTC ACCCATCACACAGAACATCCCGTCACCCGCTGACACAGAACATCTCACCC GTCACACGGAACATCCCGTCACCCGCTGACACAGAACATCTCACCCGTCA CACGGAACATCCCGTCACCCGCTGACACGGAACATCTCCCCCATCACACG GAACATCCCATCACCTGCAGACACA	G G	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	348	0.0029	-474	c.357 others(17): Show c.357+2090_357+2563del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CSMD1_chr8_2930361_4999914	3795327	ATATCTAT others(467): Show ATATCTATCATGTAGATATAGATATATATCTATCATGTATATAGATATAT ATCATGTATAGATATAGATATCTATCATAGATATAGATATATATCTATCA TAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATAGA TATAGATATATATCTATCATAGATATAGATATATATCTATCATAGATATA GATATATATCTATCATAGATATAGATATATATCTATCATAGATATAGATA TATATCTATCATAGATATAGATATATATCTATCATAGATATAGATATATA TCTATCATGTATAGATATAGATATATATCTATCATAGATATAGATATATA TCTATCATGTATAGATATAGATATATATCTATCAAGTACAGCTATAGATA TCTATCATGTACAGCTATAGATACCTATCATGTACAGCTATAGATACCTA TCATGTACAGATATAGATATATACC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp1 HG02922.hp1 HG03130.hp1	a0001 a0015 a0001 a0015	a0001c0026 a0015c0062 a0001c0026 a0015c0062	a0001c0026t0006 a0015c0062t0056 a0001c0026t0006 a0015c0062t0056	a0001c0026t0006g0093 a0015c0062t0056g0062 a0001c0026t0006g0093 a0015c0062t0056g0062	2	126	0.0159	-474	c.819 others(19): Show c.819-41759_819-41286del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1014496	CGCCTCCA others(467): Show CGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATG ACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGACGCCT CCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAG GACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCA CTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGAGACCAGGAC AGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTG TGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACA GACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTA TGACCAGGACAGACGGCGCCTCCACTGTGTGAGACCAGGACAGACGGCGC CTCCACTGTGTGTGTGACCAGGACA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	-474	c.73+ others(19): Show c.73+106532_73+107005del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137565570	ACTCTGTC others(467): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	340	0.0029	-474	c.641 others(15): Show c.641-890_641-417del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566988	ACTCTGTC others(467): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	340	0.0029	-474	c.641 others(17): Show c.641-2308_641-1835del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567454	TGGGTGAC others(467): Show TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00558.hp1 others(49): Show HG00140.hp1 HG00423.hp2 HG00558.hp1 HG00621.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01978.hp2 HG02135.hp1 HG02135.hp2 HG02293.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02698.hp2 HG02717.hp2 HG03195.hp2 HG03704.hp1 HG04184.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18955.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19054.hp2 NA19074.hp1 NA19074.hp2 NA19083.hp1 NA19086.hp2 NA19089.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0008 a0005c0007t0001 a0001c0001t0001 a0001c0001t0008 a0005c0007t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 others(45): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0210 a0001c0001t0001g0230 a0001c0001t0008g0102 a0005c0007t0001g0031	52	340	0.1529	-474	c.641 others(17): Show c.641-2774_641-2301del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERG_chr21_38375036_38503477	38485620	CGGCTAAT others(467): Show CGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAA AGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAATATACAGTGT TTATAAGTCTACAGTAGTAGATAGTGATGTCCTAGGCTTTCACATTCACT AACCACTCACTGATTCACCCAGATCCACAGCCACTTTCCATCCTGCAAGC TCCATTCATGGTAAGTGCCTTATACAGGTGTACAGGTGTATCATTTTTTT CCCTTCTTAATAATAATAATTATTATTATTTTGAGATGGGGTCTCGCTCT GTAGCCCAGGCTGGAGTGCAGAGGCATGATCTCAGCTCACAGCAACCTTT GCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGG ACTACAGGTGCGTGCCACCATGCCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03453.hp1 HG02622.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0016 a0001c0001t0006 a0001c0001t0016	a0001c0001t0006g0049 a0001c0001t0016g0048 a0001c0001t0006g0049 a0001c0001t0016g0048	2	360	0.0056	-474	c.18+ others(17): Show c.18+12269_18+12742del	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	1/9			chr21	TogoVar
GRTP1_chr13_113319163_113369130	113346646	GGACCTGG others(467): Show GGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGG CAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGG ACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAG ACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGG ACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGG ACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGAT CTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCT GAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGAC CTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCC GGGAGGACCTCTGTGGCAGAGAGCA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0007 a0006c0006t0007	a0006c0006t0007g0161 a0006c0006t0007g0161	1	288	0.0035	-474	c.466 others(17): Show c.466-2161_466-1688del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
HEATR4_chr14_73473484_73563947	73516078	GGTTCCAG others(467): Show GGTTCCAGTCCTTTGGGTTATAGCTGGATAGAAACACATCCACTAGCCAT CTTCCACATCAACAGTCATCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGT CCTGTGAGACTCCAGGGCAGTTTAGCAAAGATGCCCATACAATGCATCTC CTCCAAATGGTCCCCACCAGCTTGGACGTGCTGGGGGACTCAGCCACTCT GCTGAGGCCTCCCTCCTTTCTGGGGTAGGGTGTGTGCAACTAGGAGCTGT GGAACCACCTCTGACAGGCCAGCTCACACTTTGCCATGTGACGCTCCCCG ACTTCTCTCAGGCGATTTGAAATCCCTCCTGAAGAGATGAGAAGTAGCTG AATTAACCCCATTTCTCCTATATCCCTCTGCTCAAGGAGTTAAAATGGAT TTGCGGTGAGCAAGTCTTAGATCTCTGATATTTAACCTCATAGGAATAAA AAATACAACTGCCAACTTTTACTTT	G G	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	368	0.0027	-474	c.121 others(19): Show c.1211-2318_1211-1845del	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	5/17			chr14	TogoVar
LMF1_chr16_848634_975984	953163	GCACGTCC others(467): Show GCACGTCCACACAGACACCCCAAACCAGCCTCCTACATGTCCACACAGAC ACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAA CCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACACGT CCACACAGACACCCACCCCAAACCAGCTTCCTACACGTTCACACAGACAC GGACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACC AGCCTCCTACACGTTCACACAGACACGGACCCCACACCAGCCTCCTACAC GTCCACACAGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGAC ACCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTC CTACATATCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAG ACACCCACTCCAAACCAGCCTCCTA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	294	0.0034	-474	c.503 others(16): Show c.503+720_503+1193del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MEGF6_chr1_3482951_3616508	3583324	ACAGCCAC others(467): Show ACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCA GACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACAGCCACCAGA CAACCCGCAGCCACCAGACAACGCG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0072 a0072	a0072c0084 a0072c0084	a0072c0084t0044 a0072c0084t0044	a0072c0084t0044g0006 a0072c0084t0044g0006	1	292	0.0034	-474	c.377 others(17): Show c.377-3869_377-3396del	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MYOM2_chr8_2040046_2150456	2085538	CGTGGCCC others(467): Show CGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTG CGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTC TTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATC TCTGCGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGT GATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTG TCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCAC TGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCC CCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGG CCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGT GGCCCCCCACAGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0267 a0003c0001t0001g0267	1	403	0.0025	-474	c.164 others(17): Show c.1644+157_1644+630del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NLRC5_chr16_56984557_57088520	57070841	GTGGTTAA others(467): Show GTGGTTAATGGGGAAGGGTGTGAGAGTGGTGATGGTGGTTAATGGGGAAG GGGGTGAGTGAGTGGTGATGGTGGTTAATGGGGAAGTGTTGTGAGTGAGT TGTGTTGGTGGTTAATGGGGAAGGAGATGAGTGAGTGGTGTTGGTGGTTA ATGGGGAAGGGTTGTGAGTGAGTGGTGGCGTTGGTTAATGGGGAAGGGGG TGAGTGAGTGGTGATGGTGGTTAATGGGGAAGAGTTGTGAGTGAGTGGTG TTGGTGGTTAATGGGGAAGGGGGTGAGTGAGTGGTGGGGTTGGTTAATGG GGAAGTGTTGTGAGTGAGTGGTGATGGTGATTAATGGGGAAGGGTTGTGA GTGAGTGGCGTTGGTGGTTAATGGGGAAGGGAGGGAGTGAGTGATGATGG TGGTTAATGGGGAAGGGTTGTGAGTGAGTTGTGGGGTTGGTTAATGGGGA AGCGTTGTGAGTGAGTGGTGATGGT	G G	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0271 a0002c0001t0003g0271	1	424	0.0024	-474	c.466 others(17): Show c.4667+242_4667+715del	NLRC5	ENSG00000140853.17	transcript	ENST00000688547.1	protein_coding	38/48		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2123718	GGTTAGGG others(467): Show GGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGG TGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACG GCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCAC GGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGG TCACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTGGTT AGGGTCACGGCGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGCGGT TAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGG CGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGACGGTTAGGGTCACG GCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGT CACGGCGGTGGTTAGGGTCACGGCT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03540.hp1 HG02818.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0123 a0001c0001t0001g0104 a0001c0001t0001g0123	2	286	0.0070	-474	c.335 others(19): Show c.335-11541_335-11068del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLAIN2_chr4_48336529_48431201	48363685	AGGGGCGG others(467): Show AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGGCTGACCCCCGCATCTCCCTCCCGGACGGGGTGGCTGGC CGGGCTGAGGGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGTGGCTGCTGGGCGGAGACGCTCCTCACTTCC CAGATGGGGTGGCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGC AGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTTGCCAGG CAGAGGGTCTCCTCACTTCTCAGAC	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	348	0.0029	-474	c.390 others(17): Show c.390-6146_390-5673del	SLAIN2	ENSG00000109171.15	transcript	ENST00000264313.11	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
TCF3_chr19_1604292_1657615	1628632	CGGGGTGA others(467): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGAA AGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGC TCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGG CGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGC GGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACG	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0047 a0001c0004t0003g0047	1	352	0.0028	-474	c.299 others(17): Show c.299-1680_299-1207del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TJP2_chr9_69169277_69260208	69189602	GTCCAGCC others(467): Show GTCCAGCCTGAGCACCACAGTGGAGACTCCACTTTTTTTTTTTTTTTAAG TTTAAAAAAGTTAAAAAAAAAAAAAGACAAAGAAAAAGGAAAGTTGATTT TTGGTTCTAACTCAGTTGTGACAAACGGTGGATATATGGTTCTGACCACA TTCTAAATTGGACTTGATGGTGGGCAAGGGAAACTTCCAATGCCTATCCC CTCACTTTAAAAAAACTTCTCCTGGGCCAGGCACGGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGTGGACGGATCATGAGGTCAGGAGA TCGAGATCATCCTGGCTAACACGGTGAAACCCCGTCTGTACTAAAAATAC AAAAAGAAATTAGCCGGGTATGGTGGTGGACGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGTTTGCA GTGAGCCAAGATGGCGCCACTGCAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(142): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18988.hp2 NA18991.hp1 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0013 a0015 a0016 a0017 a0020 a0022 a0027	a0001c0001 a0001c0002 a0001c0013 others(25): Show a0001c0001 a0001c0002 a0001c0013 a0001c0017 a0001c0020 a0001c0037 a0001c0042 a0002c0003 a0002c0005 a0002c0007 a0003c0004 a0003c0012 a0003c0026 a0003c0027 a0004c0006 a0005c0008 a0007c0009 a0008c0010 a0009c0016 a0010c0015 a0011c0021 a0013c0018 a0015c0025 a0016c0028 a0017c0029 a0020c0041 a0022c0036 a0027c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0013t0002 a0001c0017t0001 a0001c0020t0008 a0001c0037t0002 a0001c0042t0004 a0002c0003t0001 a0002c0003t0002 a0002c0005t0002 a0002c0005t0003 a0002c0007t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0005 a0003c0012t0001 a0003c0012t0002 a0003c0026t0004 a0003c0027t0002 a0004c0006t0006 a0005c0008t0002 a0007c0009t0002 a0008c0010t0002 a0009c0016t0002 a0010c0015t0002 a0010c0015t0006 a0011c0021t0004 a0013c0018t0004 a0015c0025t0001 a0016c0028t0006 a0017c0029t0002 a0020c0041t0001 a0022c0036t0001 a0027c0024t0001	a0001c0001t0001g0003 a0001c0001t0001g0197 a0001c0001t0001g0200 others(139): Show a0001c0001t0001g0003 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0248 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0329 a0001c0001t0002g0004 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0286 a0001c0001t0002g0326 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0003g0240 a0001c0001t0005g0279 a0001c0002t0001g0205 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0219 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0237 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0350 a0001c0002t0002g0217 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0349 a0001c0002t0007g0005 a0001c0002t0007g0254 a0001c0013t0002g0263 a0001c0013t0002g0276 a0001c0013t0002g0347 a0001c0017t0001g0278 a0001c0017t0001g0282 a0001c0020t0008g0289 a0001c0037t0002g0228 a0001c0042t0004g0281 a0002c0003t0001g0199 a0002c0003t0001g0207 a0002c0003t0001g0209 a0002c0003t0001g0231 a0002c0003t0001g0238 a0002c0003t0001g0337 a0002c0003t0002g0330 a0002c0005t0002g0321 a0002c0005t0002g0342 a0002c0005t0003g0244 a0002c0005t0003g0250 a0002c0005t0003g0322 a0002c0005t0003g0323 a0002c0005t0003g0324 a0002c0005t0003g0325 a0002c0005t0003g0327 a0002c0005t0003g0328 a0002c0005t0003g0335 a0002c0005t0003g0348 a0002c0007t0001g0179 a0002c0007t0001g0180 a0002c0007t0001g0340 a0002c0007t0001g0341 a0003c0004t0001g0258 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0269 a0003c0004t0002g0158 a0003c0004t0002g0227 a0003c0004t0002g0257 a0003c0004t0002g0262 a0003c0004t0002g0265 a0003c0004t0002g0266 a0003c0004t0002g0267 a0003c0004t0002g0270 a0003c0004t0002g0271 a0003c0004t0002g0291 a0003c0004t0002g0292 a0003c0004t0005g0210 a0003c0004t0005g0212 a0003c0004t0005g0213 a0003c0012t0001g0159 a0003c0012t0001g0264 a0003c0012t0002g0256 a0003c0026t0004g0211 a0003c0027t0002g0272 a0004c0006t0006g0190 a0004c0006t0006g0193 a0004c0006t0006g0194 a0005c0008t0002g0275 a0005c0008t0002g0277 a0005c0008t0002g0280 a0005c0008t0002g0320 a0005c0008t0002g0343 a0005c0008t0002g0351 a0007c0009t0002g0242 a0007c0009t0002g0243 a0007c0009t0002g0247 a0007c0009t0002g0290 a0008c0010t0002g0232 a0008c0010t0002g0233 a0008c0010t0002g0251 a0008c0010t0002g0253 a0008c0010t0002g0268 a0008c0010t0002g0344 a0009c0016t0002g0331 a0010c0015t0002g0178 a0010c0015t0006g0192 a0011c0021t0004g0334 a0013c0018t0004g0284 a0015c0025t0001g0294 a0016c0028t0006g0191 a0017c0029t0002g0293 a0020c0041t0001g0249 a0022c0036t0001g0201 a0027c0024t0001g0214	145	356	0.4073	-474	c.60+ others(17): Show c.60+15180_60+15653del	TJP2	ENSG00000119139.21	transcript	ENST00000377245.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr9	TogoVar
TPO_chr2_1408463_1548673	1456605	TGTGTGGG others(467): Show TGTGTGGGCAGATGTGTACATAGCATGTATGATACTGTGGGTACACATAT ATATAGCATGTATGATAGTGTGTGGGCAGATGTGTACATAGCATGTATGA TACTCTGGGTACACATATATGTAGCATGTATGATAGTGTGTGGGCAGATG TGTACATAGCATGTATGATACTGTGGGTACACATATATATATAGCATGTA TGATAGTGTGTGGGCACATGTGTACATAGCATGTATGATACTGTGGGTAC ACATATATGTAGCATGTATGATAGTGTGTGGGCAGATGTGTACATAGCAT GTATGATACTGTGGGTACACATATATGTAGCATGCATGATAGTGTGTGGG CAGATGTGTACACAGCATGTATGATACTGTGGGTACACATATATGTAGCA TGTATGATAGTGTGTGGGCAGATGTGTACATAGCATGTATGATACTGTGG GTACACATATATAGCATGTATGATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(110): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01192.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03654.hp1 HG03654.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18962.hp2 NA18971.hp1 NA18971.hp2 NA18985.hp1 NA18985.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(13): Show a0000 a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0012 a0014 a0015 a0016 a0017 a0018 a0019	a0000c0019 a0001c0001 a0001c0004 others(25): Show a0000c0019 a0001c0001 a0001c0004 a0002c0002 a0002c0015 a0003c0003 a0003c0006 a0004c0005 a0004c0007 a0004c0032 a0006c0009 a0007c0020 a0007c0021 a0007c0022 a0007c0026 a0007c0027 a0008c0011 a0008c0016 a0008c0028 a0009c0012 a0009c0034 a0012c0023 a0014c0030 a0015c0031 a0016c0029 a0017c0033 a0018c0025 a0019c0024	a0000c0019t0004 a0001c0001t0001 a0001c0001t0002 others(49): Show a0000c0019t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0004t0001 a0001c0004t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0013 a0002c0002t0014 a0002c0015t0003 a0002c0015t0004 a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 a0003c0006t0004 a0003c0006t0011 a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0007t0004 a0004c0007t0008 a0004c0032t0008 a0006c0009t0001 a0007c0020t0004 a0007c0021t0004 a0007c0022t0002 a0007c0026t0003 a0007c0027t0002 a0008c0011t0006 a0008c0011t0015 a0008c0016t0003 a0008c0028t0003 a0009c0012t0002 a0009c0012t0006 a0009c0034t0003 a0012c0023t0001 a0014c0030t0004 a0015c0031t0001 a0016c0029t0001 a0017c0033t0001 a0018c0025t0002 a0019c0024t0005	a0000c0019t0004g0007 a0001c0001t0001g0022 a0001c0001t0001g0030 others(109): Show a0000c0019t0004g0007 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0117 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0003g0077 a0001c0001t0003g0128 a0001c0001t0005g0073 a0001c0001t0007g0013 a0001c0001t0010g0054 a0001c0004t0001g0086 a0001c0004t0001g0087 a0001c0004t0001g0091 a0001c0004t0001g0107 a0001c0004t0001g0110 a0001c0004t0001g0113 a0001c0004t0001g0114 a0001c0004t0009g0104 a0002c0002t0001g0006 a0002c0002t0002g0004 a0002c0002t0003g0011 a0002c0002t0003g0053 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0063 a0002c0002t0003g0074 a0002c0002t0003g0095 a0002c0002t0003g0127 a0002c0002t0006g0027 a0002c0002t0007g0121 a0002c0002t0009g0062 a0002c0002t0013g0119 a0002c0002t0014g0008 a0002c0015t0003g0111 a0002c0015t0004g0112 a0003c0003t0001g0010 a0003c0003t0001g0046 a0003c0003t0004g0016 a0003c0003t0004g0035 a0003c0003t0004g0051 a0003c0003t0005g0001 a0003c0003t0005g0043 a0003c0006t0004g0096 a0003c0006t0004g0097 a0003c0006t0004g0100 a0003c0006t0004g0103 a0003c0006t0011g0085 a0004c0005t0001g0019 a0004c0005t0001g0075 a0004c0005t0002g0083 a0004c0005t0003g0017 a0004c0005t0005g0071 a0004c0005t0007g0076 a0004c0007t0004g0072 a0004c0007t0004g0109 a0004c0007t0004g0116 a0004c0007t0008g0049 a0004c0007t0008g0102 a0004c0032t0008g0108 a0006c0009t0001g0123 a0007c0020t0004g0018 a0007c0021t0004g0031 a0007c0022t0002g0034 a0007c0026t0003g0052 a0007c0027t0002g0098 a0008c0011t0006g0048 a0008c0011t0006g0092 a0008c0011t0015g0120 a0008c0016t0003g0020 a0008c0028t0003g0003 a0009c0012t0002g0126 a0009c0012t0006g0124 a0009c0012t0006g0125 a0009c0034t0003g0118 a0012c0023t0001g0015 a0014c0030t0004g0115 a0015c0031t0001g0105 a0016c0029t0001g0099 a0017c0033t0001g0101 a0018c0025t0002g0045 a0019c0024t0005g0009	113	130	0.8692	-474	c.819 others(15): Show c.819+427_819+900del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
USP32_chr17_60172327_60397133	60389387	CAAAAAAT others(467): Show CAAAAAATAAGCCAGGAGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGGTTGCAGT GAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC TGTCTCGAGAAAAAAAAAAGCTTCATAAACTTTTTTTGTAATCTTAAATT CTATATTAAAGTCTGACATTTACTAAATGGACCATGCTTAAAGAAGGGGG CTTCTGGTTTACATTTAGAAATACAATTTTATCAACTTGCTGCTCTCTTT TGCTTTAATTTTCCTCTAAAGCAAACTGGTAAAACATAAATTCATGCCGG CCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCAGATCACAAGGTCAGGAGATCCAGACCATCCCGGCTAACACGGTG AAACCCCGTCTCTACTAAAAATACA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	152	0.0066	-474	c.58+ others(15): Show c.58+2021_58+2494del	USP32	ENSG00000170832.13	transcript	ENST00000300896.9	protein_coding	1/33			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289709	CCGTGTCC others(466): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCG AGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	295	0.0034	-473	c.33 others(11): Show c.3382_*3854del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2681		chr1	TogoVar
CYP4F3_chr19_15635897_15667825	15651126	GGCCTCCC others(466): Show GGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGTGCCCCACCTT GTCATGTCTTTTCTATGTCTGTGTTTATGTCTTTTTCTATATCTATATTT TCGTTCTTGTCTATGTCTATGTGTCTGTGTCTATGTCTTTTTCTTTTCTC TGTGTTTGTGTCTTTGTCTCAGTGTATGTCTATGTCCATGTTTTTTTGTC TGTGTCTATGATTATGTCTATGTCAATGCTATATCTATATCTTTGTCTTT TTTTTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGT GGTGCGATCTCGGCTTACTGCAACCTCCGCCTCCTGGGTTCAAATGATTC TCCTGCCTCAGCCTCCCAACTAGCTGGGATTAGAGGCACCTGGCTAATTT TTTGTATTTTTAGTACAGACGGAGCTTCACTATTTTTAGTCTCAAACTCC TGAGCTCGTGATCTGCCTGTCTCA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00639.hp1 others(72): Show HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01978.hp1 HG02040.hp1 HG02080.hp2 HG02273.hp2 HG02486.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02818.hp1 HG02886.hp2 HG02965.hp1 HG03130.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 NA18945.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp2 NA18972.hp1 NA18978.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18992.hp2 NA18994.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp1 NA19030.hp2 NA19057.hp2 NA19066.hp1 NA19070.hp1 NA19084.hp1 NA19090.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0011 a0012 others(1): Show a0001 a0011 a0012 a0013	a0001c0004 a0001c0005 a0011c0016 others(2): Show a0001c0004 a0001c0005 a0011c0016 a0012c0017 a0013c0015	a0001c0004t0005 a0001c0004t0007 a0001c0004t0011 others(16): Show a0001c0004t0005 a0001c0004t0007 a0001c0004t0011 a0001c0004t0037 a0001c0004t0038 a0001c0004t0039 a0001c0004t0041 a0001c0004t0042 a0001c0004t0072 a0001c0004t0074 a0001c0004t0075 a0001c0004t0081 a0001c0005t0004 a0001c0005t0032 a0001c0005t0073 a0001c0005t0076 a0011c0016t0043 a0012c0017t0034 a0013c0015t0004	a0001c0004t0005g0004 a0001c0004t0005g0046 a0001c0004t0005g0047 others(70): Show a0001c0004t0005g0004 a0001c0004t0005g0046 a0001c0004t0005g0047 a0001c0004t0005g0055 a0001c0004t0005g0056 a0001c0004t0005g0058 a0001c0004t0005g0059 a0001c0004t0005g0060 a0001c0004t0005g0063 a0001c0004t0005g0065 a0001c0004t0005g0067 a0001c0004t0005g0070 a0001c0004t0005g0072 a0001c0004t0005g0076 a0001c0004t0005g0078 a0001c0004t0005g0079 a0001c0004t0007g0045 a0001c0004t0007g0048 a0001c0004t0007g0050 a0001c0004t0007g0053 a0001c0004t0007g0057 a0001c0004t0007g0061 a0001c0004t0007g0062 a0001c0004t0007g0069 a0001c0004t0007g0075 a0001c0004t0007g0080 a0001c0004t0007g0170 a0001c0004t0011g0054 a0001c0004t0011g0064 a0001c0004t0011g0071 a0001c0004t0011g0074 a0001c0004t0011g0077 a0001c0004t0037g0066 a0001c0004t0038g0073 a0001c0004t0039g0051 a0001c0004t0041g0068 a0001c0004t0042g0004 a0001c0004t0072g0039 a0001c0004t0074g0040 a0001c0004t0075g0038 a0001c0004t0081g0044 a0001c0005t0004g0002 a0001c0005t0004g0003 a0001c0005t0004g0012 a0001c0005t0004g0014 a0001c0005t0004g0015 a0001c0005t0004g0016 a0001c0005t0004g0017 a0001c0005t0004g0019 a0001c0005t0004g0020 a0001c0005t0004g0021 a0001c0005t0004g0022 a0001c0005t0004g0023 a0001c0005t0004g0024 a0001c0005t0004g0025 a0001c0005t0004g0026 a0001c0005t0004g0027 a0001c0005t0004g0028 a0001c0005t0004g0029 a0001c0005t0004g0030 a0001c0005t0004g0032 a0001c0005t0004g0034 a0001c0005t0004g0036 a0001c0005t0004g0037 a0001c0005t0004g0041 a0001c0005t0004g0042 a0001c0005t0032g0018 a0001c0005t0032g0035 a0001c0005t0073g0033 a0001c0005t0076g0031 a0011c0016t0043g0052 a0012c0017t0034g0043 a0013c0015t0004g0013	75	424	0.1769	-473	c.918 others(15): Show c.918+956_919-958del	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ERICH1_chr8_659200_736224	714182	CGCATCTC others(466): Show CGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCT CTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTG GGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTGGGATGTG CTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTGGGATGTGCTGCACC CAGGCGGCCTCTTCCCGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGG CCTCTTCCCGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTC CGGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCCGCATC TCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGT GGGATGTGCTGCACCCAGGCGGCCTCTTCCCGCATCTCTCGGTGGGATGT GCTGCACCCAGGCGGCCTCTTCCG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02280.hp2 HG03098.hp1 HG01099.hp1 HG02280.hp2 HG03098.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0235 a0002c0005t0001g0236 a0002c0005t0001g0237 a0002c0005t0001g0235 a0002c0005t0001g0236 a0002c0005t0001g0237	3	378	0.0079	-473	c.169 others(17): Show c.169+1206_169+1678del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241805789	CCCCTCAG others(466): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGG ACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	314	0.0032	-473	c.16 others(11): Show c.1624_*2096del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1503		chr2	TogoVar
HEATR4_chr14_73473484_73563947	73515674	AAAAAAAA others(466): Show AAAAAAAAAAAAAAAAAAAAAAAAAGAGTCCTGTGAGACTCCAGGGCAGT TTAGCAAAGATGCCCATACAATGCATCTCCTCCAAATGGTCCCCACCAGC TTGGACGTGCTGGGGGACTCAGCCACTCTGCTGAGGCCTCCCTCCTTTCT GGGGTAGGGTGTGTGCAACTAGGAGCTGTGGAACCACCTCTGACAGGCCA GCTCACACTTTGCCATGTGACGCTCCCCGACTTCTCTCAGGCGATTTGAA ATCCCTCCTGAAGAGATGAGAAGTAGCTGAATTAACCCCATTTCTCCTAT ATCCCTCTGCTCAAGGAGTTAAAATGGATTTGCGGTGAGCAAGTCTTAGA TCTCTGATATTTAACCTCATAGGAATAAAAAATACAACTGCCAACTTTTA CTTTGGTTCCAGTCCTTTGGGTTATAGCTGGATAGAAACACATCCACTAG CCATCTTCCACATCAACAGTCATC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 NA18951.hp1 others(2): Show HG00544.hp1 HG00558.hp1 NA18951.hp1 NA18957.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0001t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0003g0229 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0003g0229 a0001c0001t0003g0238 a0001c0003t0001g0055	5	368	0.0136	-473	c.121 others(19): Show c.1211-1913_1211-1441del	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	5/17			chr14	TogoVar
NEU4_chr2_241804193_241822413	241805789	CCCCTCAG others(466): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGG ACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	319	0.0031	-473	c.-34 others(11): Show c.-3488_-3016del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3403		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805794	CAGCCCAG others(466): Show CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTA GGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	319	0.0031	-473	c.-34 others(11): Show c.-3483_-3011del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3398		chr2	TogoVar
SAFB_chr19_5618083_5673478	5657744	GAAACTCC others(466): Show GAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCCA GGATTACAGACGTGAGCCACTGCACCCGGCCTACTTACAGCTCTTTTCAA ATAAGTCTCTTCCCAAAGATTGTAGAAGGTAACAAAGGCAGGGAGATGGA ATGCCTTCCAGCGTCAGTAGTGCTCGTCAACAAAAAATACCAAATTTGCT CCAGAAGATGTGAAAGCAGGAAGAGAGACAGTGAGGTAGACCCAGCGAGG GCACTGAGAGGGCTTCCTTTTTTTTTGAGATGGAGTCTGTGTCGCCCAGG GTGGAGTGCAGTGGCATGATCTCAGCTCACCGCAGCCTCCACCTCCCCTG TTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CAAGCCACCACACCCGGCTCATTTTTGTATTTTTAGTAGAGATGGGGTTT GGCCATGTTGGCCAGGCTGGTTTC	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	282	0.0036	-473	c.186 others(17): Show c.1862+413_1862+885del	SAFB	ENSG00000160633.13	transcript	ENST00000588852.2	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1289709	CCGTGTCC others(466): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCG AGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	290	0.0035	-473	c.166 others(16): Show c.1663-560_1663-88del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281476	CGAGAGGA others(466): Show CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAGG ACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCG GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTT CAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAG AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAG GACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCG GAGATCTTCAGAGAGAGGACGCCT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0057 a0001c0001t0046g0057	1	330	0.0030	-473	c.970 others(19): Show c.970-21497_970-21025del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1072700	CAGCCCCC others(466): Show CAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCA GTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGC CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACA CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGCAGCCCCCAGTG	C C	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0034 a0002c0011t0002g0034	1	118	0.0085	-473	c.224 others(17): Show c.2241+460_2241+932del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
TCF25_chr16_89868592_89916379	89901465	GCCGGGCG others(466): Show GCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAG GTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAACACGGT GAAACCACGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGTTGGCG GGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATG AACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC AGCCTGGGCAACATAGTGAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAA AAAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATCCCT CCTTAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATCC CTCCTTAAGATGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAAT CCCTCCTTAAGACGGGCCTCCGGC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0064 a0001c0004t0002g0064	1	300	0.0033	-473	c.138 others(18): Show c.1381+673_1381+1145del	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TRAPPC9_chr8_139722725_140462744	139747840	GGGGAGGT others(466): Show GGGGAGGTGTGCAGGGATCAGAGAAGATGCAGGGGTTACACACAGCAGGT GTCAGAGCAGGTAGGGGGGGCATACAGGGGTCAGAGTGGGTGTGAGGGTG TCCCGGGGTCAGAGCAGGTGGGAGGTGTGCAGGGATCAGAGAAGATGCAG GGGGTATACACAGCAAGTGTCACAGCAGGTTGGGGGGGCGTACAGGGGTC AGAGTGGGTGTGGGGGTGTCCCGGGGTCAGAGCAGGTGGGGAGGTGTGCA GGGATCAGAGAAGATGCAGGGGGTATACACAGCAGGTGTCACAGCAGGTT GGGGGGGCGTACAGGGGTCAGAGTGGGTGTGGGGGTGTCCCGGGGTCAGA GCAGGTGGGAGGTGTACAGGGATCAGAGAAGATGCAGGGGGTATACACAG CAGGTGTCAGAGCAGGTAGGGGGGGCATACAGGGGTCAGAGTGGGTGTGA GGGTGTCCTGGGGTCAGAGCAGGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp1 HG02486.hp2 others(9): Show HG01109.hp2 HG01255.hp1 HG02486.hp2 HG02615.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0020 a0006c0011	a0001c0001t0001 a0001c0001t0029 a0001c0002t0003 others(8): Show a0001c0001t0001 a0001c0001t0029 a0001c0002t0003 a0001c0002t0007 a0001c0003t0001 a0001c0003t0014 a0001c0004t0004 a0001c0004t0010 a0001c0009t0005 a0001c0020t0007 a0006c0011t0004	a0001c0001t0001g0067 a0001c0001t0029g0077 a0001c0002t0003g0038 others(9): Show a0001c0001t0001g0067 a0001c0001t0029g0077 a0001c0002t0003g0038 a0001c0002t0007g0022 a0001c0003t0001g0052 a0001c0003t0014g0030 a0001c0004t0004g0094 a0001c0004t0010g0089 a0001c0004t0010g0090 a0001c0009t0005g0010 a0001c0020t0007g0034 a0006c0011t0004g0091	12	98	0.1225	-473	c.305 others(21): Show c.3056-16111_3056-15639del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
WIPF2_chr17_40214304_40289136	40221668	CCTGCCGG others(466): Show CCTGCCGGATTCAAGCGCTTCTCCTGCCTCAGTCCCCCAAGTAACTGGTA CTATAGGCATGCACCACCACGCCCAGCTAATTTTTTGTATTTTAGTAGAG ATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGG TGATCCACCCACCTCGGCCTCCCAAAGTGTTGAGATTACAGGCATGAGCT ACCACACCTGGCCGCATGTTTAGTTTTTTAACTCTTATTAATGTCAACTT TTAAAAGTAAAAATTTCATATTGTGTTACATTGGTTGCCATCAAGATGAA GATAGGGAAGTTAAGAGTTGGGGAAGGTGGAGATGAATGAAGTCAATTGA TGAAGACTAGTAGAATGTAGTGTTGGTTTTTTTATTTGTTTATTTATTTA TTTTGAGACAGAGTCTTGCTGTATTGCCCAGGCTGGAGTGCAATGGCACA ATCTTGGCTCACTGCAACCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0007 a0001c0008 others(5): Show a0001c0001 a0001c0007 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(136): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0007t0084 a0001c0008t0001 a0002c0002t0034 a0003c0003t0105 a0003c0003t0106 a0004c0004t0079 a0005c0006t0001 a0006c0005t0092	a0001c0001t0001g0001 a0001c0001t0001g0111 a0001c0001t0001g0119 others(309): Show a0001c0001t0001g0001 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0264 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0002g0113 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0145 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0159 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0198 a0001c0001t0002g0202 a0001c0001t0002g0224 a0001c0001t0002g0240 a0001c0001t0002g0255 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0286 a0001c0001t0002g0292 a0001c0001t0003g0123 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0156 a0001c0001t0003g0169 a0001c0001t0003g0191 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0244 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0003g0275 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0037 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0047 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0062 a0001c0001t0004g0072 a0001c0001t0004g0074 a0001c0001t0004g0084 a0001c0001t0004g0089 a0001c0001t0004g0108 a0001c0001t0005g0116 a0001c0001t0005g0120 a0001c0001t0005g0124 a0001c0001t0005g0171 a0001c0001t0005g0190 a0001c0001t0005g0197 a0001c0001t0005g0207 a0001c0001t0005g0232 a0001c0001t0005g0239 a0001c0001t0005g0241 a0001c0001t0005g0257 a0001c0001t0005g0263 a0001c0001t0005g0289 a0001c0001t0006g0023 a0001c0001t0006g0025 a0001c0001t0006g0036 a0001c0001t0006g0042 a0001c0001t0006g0046 a0001c0001t0006g0061 a0001c0001t0006g0063 a0001c0001t0006g0090 a0001c0001t0006g0094 a0001c0001t0006g0097 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0007g0028 a0001c0001t0007g0032 a0001c0001t0007g0038 a0001c0001t0007g0040 a0001c0001t0007g0059 a0001c0001t0007g0066 a0001c0001t0007g0077 a0001c0001t0007g0092 a0001c0001t0007g0096 a0001c0001t0007g0101 a0001c0001t0007g0103 a0001c0001t0007g0104 a0001c0001t0008g0112 a0001c0001t0008g0118 a0001c0001t0008g0125 a0001c0001t0008g0146 a0001c0001t0008g0170 a0001c0001t0008g0200 a0001c0001t0008g0209 a0001c0001t0008g0246 a0001c0001t0008g0250 a0001c0001t0008g0254 a0001c0001t0008g0311 a0001c0001t0009g0114 a0001c0001t0009g0149 a0001c0001t0009g0157 a0001c0001t0009g0160 a0001c0001t0009g0208 a0001c0001t0009g0212 a0001c0001t0009g0219 a0001c0001t0009g0229 a0001c0001t0009g0291 a0001c0001t0010g0109 a0001c0001t0010g0158 a0001c0001t0010g0168 a0001c0001t0010g0177 a0001c0001t0010g0181 a0001c0001t0010g0210 a0001c0001t0010g0245 a0001c0001t0010g0248 a0001c0001t0011g0214 a0001c0001t0011g0215 a0001c0001t0011g0216 a0001c0001t0011g0220 a0001c0001t0011g0223 a0001c0001t0011g0296 a0001c0001t0012g0051 a0001c0001t0012g0052 a0001c0001t0012g0056 a0001c0001t0012g0088 a0001c0001t0012g0093 a0001c0001t0012g0095 a0001c0001t0013g0129 a0001c0001t0013g0225 a0001c0001t0013g0243 a0001c0001t0013g0249 a0001c0001t0013g0283 a0001c0001t0014g0024 a0001c0001t0014g0030 a0001c0001t0014g0064 a0001c0001t0014g0079 a0001c0001t0014g0085 a0001c0001t0015g0237 a0001c0001t0015g0260 a0001c0001t0015g0261 a0001c0001t0016g0006 a0001c0001t0016g0298 a0001c0001t0016g0305 a0001c0001t0017g0174 a0001c0001t0017g0251 a0001c0001t0017g0299 a0001c0001t0018g0186 a0001c0001t0018g0281 a0001c0001t0018g0295 a0001c0001t0019g0013 a0001c0001t0019g0014 a0001c0001t0019g0015 a0001c0001t0020g0045 a0001c0001t0020g0065 a0001c0001t0020g0105 a0001c0001t0021g0259 a0001c0001t0021g0262 a0001c0001t0022g0213 a0001c0001t0022g0234 a0001c0001t0023g0007 a0001c0001t0023g0008 a0001c0001t0024g0138 a0001c0001t0024g0300 a0001c0001t0025g0137 a0001c0001t0025g0310 a0001c0001t0026g0293 a0001c0001t0026g0294 a0001c0001t0027g0277 a0001c0001t0028g0164 a0001c0001t0028g0211 a0001c0001t0029g0057 a0001c0001t0029g0058 a0001c0001t0030g0033 a0001c0001t0030g0091 a0001c0001t0031g0044 a0001c0001t0031g0050 a0001c0001t0032g0060 a0001c0001t0032g0098 a0001c0001t0033g0075 a0001c0001t0033g0076 a0001c0001t0035g0016 a0001c0001t0036g0082 a0001c0001t0037g0018 a0001c0001t0038g0086 a0001c0001t0039g0163 a0001c0001t0040g0141 a0001c0001t0041g0228 a0001c0001t0042g0290 a0001c0001t0043g0017 a0001c0001t0044g0302 a0001c0001t0045g0227 a0001c0001t0046g0303 a0001c0001t0047g0121 a0001c0001t0048g0071 a0001c0001t0049g0195 a0001c0001t0050g0002 a0001c0001t0051g0003 a0001c0001t0052g0004 a0001c0001t0053g0306 a0001c0001t0054g0288 a0001c0001t0055g0122 a0001c0001t0056g0139 a0001c0001t0057g0297 a0001c0001t0058g0284 a0001c0001t0059g0309 a0001c0001t0060g0312 a0001c0001t0061g0178 a0001c0001t0062g0233 a0001c0001t0063g0172 a0001c0001t0064g0308 a0001c0001t0065g0005 a0001c0001t0066g0307 a0001c0001t0067g0117 a0001c0001t0068g0242 a0001c0001t0069g0258 a0001c0001t0070g0256 a0001c0001t0071g0140 a0001c0001t0072g0230 a0001c0001t0073g0282 a0001c0001t0074g0279 a0001c0001t0075g0194 a0001c0001t0076g0231 a0001c0001t0077g0148 a0001c0001t0078g0126 a0001c0001t0080g0206 a0001c0001t0081g0280 a0001c0001t0082g0276 a0001c0001t0083g0176 a0001c0001t0085g0115 a0001c0001t0086g0205 a0001c0001t0087g0134 a0001c0001t0088g0142 a0001c0001t0089g0179 a0001c0001t0090g0267 a0001c0001t0091g0235 a0001c0001t0093g0287 a0001c0001t0094g0252 a0001c0001t0095g0187 a0001c0001t0096g0161 a0001c0001t0097g0189 a0001c0001t0098g0226 a0001c0001t0099g0147 a0001c0001t0100g0162 a0001c0001t0101g0132 a0001c0001t0102g0203 a0001c0001t0103g0285 a0001c0001t0104g0133 a0001c0001t0107g0110 a0001c0001t0108g0080 a0001c0001t0109g0154 a0001c0001t0110g0010 a0001c0001t0111g0009 a0001c0001t0112g0043 a0001c0001t0113g0083 a0001c0001t0114g0020 a0001c0001t0115g0073 a0001c0001t0116g0100 a0001c0001t0117g0099 a0001c0001t0118g0031 a0001c0001t0119g0026 a0001c0001t0120g0304 a0001c0001t0121g0069 a0001c0001t0122g0048 a0001c0001t0123g0081 a0001c0001t0124g0078 a0001c0001t0125g0102 a0001c0001t0126g0314 a0001c0001t0127g0034 a0001c0001t0128g0067 a0001c0001t0129g0054 a0001c0001t0130g0201 a0001c0001t0131g0035 a0001c0001t0132g0019 a0001c0001t0133g0049 a0001c0001t0134g0087 a0001c0001t0135g0027 a0001c0001t0136g0301 a0001c0001t0137g0199 a0001c0007t0084g0144 a0001c0008t0001g0175 a0002c0002t0034g0068 a0002c0002t0034g0070 a0003c0003t0105g0011 a0003c0003t0106g0012 a0004c0004t0079g0313 a0005c0006t0001g0266 a0006c0005t0092g0165	312	314	0.9936	-473	c.-70 others(17): Show c.-70+2179_-70+2651del	WIPF2	ENSG00000171475.14	transcript	ENST00000323571.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288791	TCCCCCGT others(465): Show TCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCG TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	295	0.0034	-472	c.43 others(11): Show c.4301_*4772del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3599		chr1	TogoVar
ATP10A_chr15_25673712_25868327	25758292	CCACCTGC others(465): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGACCACCTGATCCACCCTAACTCATTCCAATCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTC CACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCAC CTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCT GCTCCACCCTAACTCATTCCGAT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0166 a0003c0003t0001g0166	1	300	0.0033	-472	c.654 others(19): Show c.654+22255_655-22152del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
BRSK2_chr11_1384934_1467689	1429523	GCTGTGCC others(465): Show GCTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTG CGGGGTCTGGTCAGGTTTTGCCA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01891.hp2 HG01069.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0191 a0001c0001t0004g0185 a0001c0001t0001g0191 a0001c0001t0004g0185	2	360	0.0056	-472	c.92- others(15): Show c.92-6510_92-6039del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431818	GTCTGGTC others(465): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0132 a0002c0002t0002g0132	1	360	0.0028	-472	c.92- others(15): Show c.92-4221_92-3750del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431865	GTCTGGTC others(465): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0301 a0002c0002t0017g0301	1	360	0.0028	-472	c.92- others(15): Show c.92-4174_92-3703del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
HEATR4_chr14_73473484_73563947	73515675	AAAAAAAA others(465): Show AAAAAAAAAAAAAAAAAAAAAAAAGAGTCCTGTGAGACTCCAGGGCAGTT TAGCAAAGATGCCCATACAATGCATCTCCTCCAAATGGTCCCCACCAGCT TGGACGTGCTGGGGGACTCAGCCACTCTGCTGAGGCCTCCCTCCTTTCTG GGGTAGGGTGTGTGCAACTAGGAGCTGTGGAACCACCTCTGACAGGCCAG CTCACACTTTGCCATGTGACGCTCCCCGACTTCTCTCAGGCGATTTGAAA TCCCTCCTGAAGAGATGAGAAGTAGCTGAATTAACCCCATTTCTCCTATA TCCCTCTGCTCAAGGAGTTAAAATGGATTTGCGGTGAGCAAGTCTTAGAT CTCTGATATTTAACCTCATAGGAATAAAAAATACAACTGCCAACTTTTAC TTTGGTTCCAGTCCTTTGGGTTATAGCTGGATAGAAACACATCCACTAGC CATCTTCCACATCAACAGTCATC	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	368	0.0027	-472	c.121 others(19): Show c.1211-1913_1211-1442del	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	5/17			chr14	TogoVar
MTA1_chr14_105414827_105475729	105459459	CCCTGGGG others(465): Show CCCTGGGGAGCTGTGTGCCTGGGGGGAGTCCGTGCTGCCCGTGGCCCCTG GTCCCTGGCGCCTGGGGAGCTGTGTGCCTGGGGGCAGTCCGTGCTGCCCA TGGCCCCTGGTCCCTGGCACCTGGGGAGCTGTGTGCCTGGGGGGAGTCCG CGCTGCCCGTGGCCCCTGGTCCCTGGTCCCTGGGGAGCTGTGTGCCTGGG GGGAGTCCGTGCTGCCCATGGCCCCTGGTCCCTGGCGCCTGGGGAGCTGT GTGCCTGGGGGCAGTCCGTGCTGCCCATGGCCCCTGGTCCCTGGTCCCTG GGGAGCTGTGTGCCTGGGGGGAGTCCGTGCTGCCCGTGGCCCCTGGTCCC TGGTCCCTGGGGAGCTGTGTGCCTGGGGGGAGTCCGTGCTGCCCATGGCC CCTGGTCCCTGGCGCCTGGGGAGCTGTGTGCCTGGGGGGAGTCCGTGCTG CCCGTGGCCCCTGGTCCCTGGCG	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	304	0.0033	-472	c.654 others(15): Show c.654-874_654-403del	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTA1_chr14_105414827_105475729	105459518	GCCTGGGG others(465): Show GCCTGGGGAGCTGTGTGCCTGGGGGCAGTCCGTGCTGCCCATGGCCCCTG GTCCCTGGCACCTGGGGAGCTGTGTGCCTGGGGGGAGTCCGCGCTGCCCG TGGCCCCTGGTCCCTGGTCCCTGGGGAGCTGTGTGCCTGGGGGGAGTCCG TGCTGCCCATGGCCCCTGGTCCCTGGCGCCTGGGGAGCTGTGTGCCTGGG GGCAGTCCGTGCTGCCCATGGCCCCTGGTCCCTGGTCCCTGGGGAGCTGT GTGCCTGGGGGGAGTCCGTGCTGCCCGTGGCCCCTGGTCCCTGGTCCCTG GGGAGCTGTGTGCCTGGGGGGAGTCCGTGCTGCCCATGGCCCCTGGTCCC TGGCGCCTGGGGAGCTGTGTGCCTGGGGGGAGTCCGTGCTGCCCGTGGCC CCTGGTCCCTGGCGCCTGGGGAGCTGTGTGCCTGGGGGAAGTCCGTGCTG CCCATGGCCCCTGGTCCCTGGCA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0230 a0002c0002t0001g0230	1	304	0.0033	-472	c.654 others(15): Show c.654-815_654-344del	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPRL3_chr16_80386_143673	141569	GCTGCATA others(465): Show GCTGCATAACATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTATCAC CCAGGCTGGAGGGCAGTGGCACAATCTCAGTTCACTGCAAGCTCCACCTA CCAGGTTCACATCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGTGCCCGCCACCACACCAGGCTAATTTTTTTTTTTTTTTTGAGATGGA GTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCAC TGCAAGCTCCACCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCC AGTAGCTGAGACTACAGGCGCCCGCCACCACGTCCGGCTAATTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGCGTTAGCCAGGATGGTCTCGATC TCCTGACCTCTTGATCCACCCGCCTCGGCCTCTCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGTGCCCGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	350	0.0029	-472	c.-34 others(11): Show c.-3467_-2996del	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		2897		chr16	TogoVar
PRPF6_chr20_63976132_64038100	64011805	TGGCTTCT others(465): Show TGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAG GAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGA GGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACA CCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGA AATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTT GCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCT TCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGT CTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGG ACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTAC GAGAGGAGGACAGGAAGTCTCAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	294	0.0034	-472	c.152 others(18): Show c.1524+603_1524+1074del	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
RNF212_chr4_1066478_1118564	1095084	GGAACCAA others(465): Show GGAACCAAGCACACTCCCCACAGCTCCATGGTCTCAGGATAGCGCACCTG GCTCATCACAGAACCAAGCACGCCCCCCACAGCTCCATGGTCTCGGGATA GCGCACCTGGCTCATCACAGAACCAAGCACACTCCCCACAGCTCCATGGT CTCGGGATAGCGCACCTGGCTCATCACGGAACCAAGCACACCCCCCACAG CTCCATGGTCTCGGGATAGCGCACCTGGCTCATCACAGAACCAAGCACAC CTCCCACAGCTCCATGGTCTCAGCATAGCGCACCTGGCTCATCACAGAAC CAAGCACAACTCCCACAGCTCCATGGTCTCGGGATAGCGCACCTGGCTCA TCACAGAACCAAGCACAACTCCCACAGCTCCACGGTCTCGGGATAGCGCA CCTGGCTCATCACAGAACCAAGCACAACTCCCACAGCTCCATGGTCTCGG GATAGTGCACCTGGCTCATCACA	G G	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0272 a0001c0002t0002g0272	1	406	0.0025	-472	c.246 others(17): Show c.246+1209_246+1680del	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	3/9			chr4	TogoVar
SCNN1D_chr1_1275436_1297025	1288791	TCCCCCGT others(465): Show TCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCG TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	290	0.0035	-472	c.166 others(18): Show c.1662+758_1663-1005del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)