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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NACAD_chr7_45075437_45093969	45083467	GCGTGGCT others(353): Show GCGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGATCTGTGTCTTGT AGGGGCAGAGGCGGTGTCATAGCGGAGTCCTGGGGTAAGGTGAGGCCCTC TTCAGCCTGCTGGGACACAGGCGTGGCTGCAGCCACAGGCTTTGGGGCTG ACGAGAGATCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAGCGGAGTCC TGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGC AGCCACAGGCTTTGGGGCTGACGAGAGATCTGTGTCTTGTAGGGGCAGAG GCGGTGTCATAGCGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGC TGGGACACAAT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03831.hp2 HG03831.hp2	a0039 a0039	a0039c0070 a0039c0070	a0039c0070t0001 a0039c0070t0001	a0039c0070t0001g0086 a0039c0070t0001g0086	1	410	0.0024	-360	c.235 others(9): Show c.2353_2712del	p.Ile others(13): Show p.Ile785_Thr904del	NACAD	ENSG00000136274.9	transcript	ENST00000490531.3	protein_coding	2/8	2787/4836	2353/4689	785/1562			chr7	TogoVar
NKX1-1_chr4_1397932_1411442	1398077	AGGGTGTT others(353): Show AGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTG GATGTGAGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTA GATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0006 a0001c0001t0000g0006	1	382	0.0026	-360	c.44 others(11): Show c.4495_*4854del		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4854		chr4	TogoVar
PINX1_chr8_10759961_10844875	10805825	AGAGCACA others(353): Show AGAGCACAGGAAGGGGCCACACTAGCGCTGAGTGGGTGACGGAGCACAGG AAGGGGCCACACTAGTGCTGAGGGGGTGACAGAGCACAGGAAGGGGCCAC ACTAGTGCTGAGGGGGTGACGGAGCACAGGAAGGGGCCACACTAGTGCTG AGTGGGTGACGGAGCACAGGAAGGGGCCACACTAGTGCTGAGGGGGTGAC GGAGCACAGGAAGGGGCCACACTAGTGCTGAGTGGGTGACGGAGCACAGG AAGGGGCCACACTAGTGCTGAGGGGGTGACGGAGCACAGGAAGGGGCCAC ACTAGTGCTGAGGGGGTGACGGAGCACAGGAAGGGGCCACACTAGTGCTG AGGGGGTGACG	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18964.hp1 NA18966.hp2 NA18950.hp1 NA18964.hp1 NA18966.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0165 a0003c0007t0002g0166 a0003c0007t0002g0167 a0003c0007t0002g0165 a0003c0007t0002g0166 a0003c0007t0002g0167	3	352	0.0085	-360	c.471 others(19): Show c.471+14008_471+14367del		PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6						chr8	TogoVar
PPP1R12B_chr1_202343699_202597702	202391570	TTGAAGAT others(353): Show TTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0071 a0001c0001t0010g0071	1	254	0.0039	-360	c.292 others(19): Show c.292-24992_292-24633del		PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF213_chr17_80255852_80403794	80314298	GTGGACGT others(353): Show GTGGACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGT GGAGGTACTGGAGGTGATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGG AGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTA ATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGTGATGGT GGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGG AGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTAATGGAG GTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGT CGTGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0043 a0043	a0043c0101 a0043c0101	a0043c0101t0003 a0043c0101t0003	a0043c0101t0003g0061 a0043c0101t0003g0061	1	292	0.0034	-360	c.281 others(19): Show c.2811+1135_2811+1494del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1077361	CGGGAGGC others(353): Show CGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGG GACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTG AGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTG GGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	324	0.0031	-360	c.-37 others(11): Show c.-3715_-3356del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					3056		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077571	CGGGAGGC others(353): Show CGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGC GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	-360	c.-39 others(11): Show c.-3925_-3566del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					3266		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078650	GGGGGAGG others(353): Show GGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGCACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGG GGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTG CGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01952.hp2 HG01978.hp1 others(3): Show HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02148.hp2 HG03669.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0001 a0006c0006t0001g0019 a0001c0001t0001g0001 a0006c0006t0001g0019	6	324	0.0185	-360	c.-50 others(11): Show c.-5004_-4645del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4345		chr1	TogoVar
RPTOR_chr17_80539838_80971368	80743929	CCCTGGTT others(353): Show CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTATGAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG TTACGAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC TATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0006 a0001c0028t0006	a0001c0028t0006g0124 a0001c0028t0006g0124	1	196	0.0051	-360	c.655 others(18): Show c.655-10075_655-9716del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
SCTR_chr2_119434843_119529483	119444381	GAATATAT others(353): Show GAATATATATACACATATACGTATGAATATATATACCCATATACGTATGA ATATACACATATATATACGTACGTATATATATACACATATATACGTACGT ATATATATACACATATATACGTACGTATATATATACACATATATACGTAC GAATATATATACACATATATACGTACGAATATATATACACATATATACGT ACGAATATATATACACATATATACGTACGAATATATATACACATATATAC GTACGAATATATATACACATATATACGTACGAATATATATACACATATAT ACGTACGAATATATATACACATATATACGTACGAATATATATACACATAT ATACGTACGAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02559.hp2 others(4): Show HG02109.hp1 HG02486.hp1 HG02559.hp2 HG03225.hp2 HG03453.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0105 a0001c0001t0001g0148 a0001c0001t0001g0149 others(4): Show a0001c0001t0001g0105 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0235 a0001c0001t0001g0273 a0001c0001t0004g0006	7	290	0.0241	-360	c.114 others(19): Show c.1140+2018_1140+2377del		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12						chr2	TogoVar
SERPINF2_chr17_1737871_1760265	1739672	TGGCCTGA others(353): Show TGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGC AGGACAGTGAGGGTGGGAGGTGGCCTGATGCAGGGAGTGAGGAGCCGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG01928.hp2 others(20): Show HG00423.hp2 HG00544.hp1 HG01928.hp2 HG01943.hp2 HG01981.hp2 HG02135.hp2 HG02145.hp2 HG02976.hp2 HG03704.hp2 NA18612.hp2 NA18949.hp1 NA18960.hp1 NA18961.hp2 NA18969.hp1 NA18971.hp1 NA18983.hp2 NA18985.hp2 NA18993.hp1 NA19000.hp2 NA19063.hp2 NA19083.hp2 NA19087.hp2 NA19088.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0010 a0003c0003t0001 a0003c0003t0004 a0003c0003t0010	a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0015 others(15): Show a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0015 a0003c0003t0001g0022 a0003c0003t0001g0046 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0118 a0003c0003t0001g0125 a0003c0003t0004g0007 a0003c0003t0004g0015 a0003c0003t0004g0113 a0003c0003t0004g0115 a0003c0003t0004g0119 a0003c0003t0004g0121 a0003c0003t0010g0126	23	445	0.0517	-360	c.-32 others(11): Show c.-3240_-2881del		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding					3198		chr17	TogoVar
SLC12A7_chr5_1045384_1117063	1061112	ACCGCACC others(353): Show ACCGCACCCGCCGTGCGGGACCCCTGCGTCTCACCCGCCGCACCCGCCGT GCGGGACCCCTGCGTCTCACCCACCGCACCCGCCGTGCGGGATCCCTGCG TCTCACCCACCGCACCCGCCGTACCTGCCGCATCCGCCATGCGGAACCCC TGCGTCTCACCCACCGCACCTGCCGTGCAGGATCCCTGAGTCTCACCCGC CGCACCCGCCGTGCGGGATCCCTGAGTCTCACCCGCCGCACCCGCCGTGC GGGATCCCTGAGTCTCACCCGCCGCACCCGCCGTACCTGCCGCATCCGCC ATGCGGGACCCCTGCGTCTCACCCACCGCACCCGCCGTGCGGGATCCCTG AGTCTCACCCG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03471.hp1 NA19030.hp1 HG02976.hp1 HG03471.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0002c0038 a0001c0003 a0001c0005 a0002c0038	a0001c0003t0003 a0001c0005t0013 a0002c0038t0014 a0001c0003t0003 a0001c0005t0013 a0002c0038t0014	a0001c0003t0003g0014 a0001c0005t0013g0077 a0002c0038t0014g0118 a0001c0003t0003g0014 a0001c0005t0013g0077 a0002c0038t0014g0118	3	118	0.0254	-360	c.274 others(18): Show c.2740-1021_2740-662del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23						chr5	TogoVar
SMOC2_chr6_168436184_168672992	168594449	GCTCCTCC others(353): Show GCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCG AGCTCCTCCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAGGATCTCT GAGCTCCTCCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAGGATCTC CGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATGG CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATC TCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT CTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TCGCCGAGCTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(47): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02602.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03195.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18950.hp2 NA18951.hp2 NA18960.hp2 NA18963.hp1 NA19000.hp1 NA19079.hp2 NA19091.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0008 a0001c0002t0013 a0001c0002t0016 a0001c0004t0005 a0004c0009t0003	a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0098 others(47): Show a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0149 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0008g0047 a0001c0002t0013g0062 a0001c0002t0016g0046 a0001c0004t0005g0048 a0004c0009t0003g0088	50	180	0.2778	-360	c.638 others(17): Show c.638-4360_638-4001del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594474	CGGGCATC others(353): Show CGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC GCGGGCATCTTTCTAGAGGATCTCTGAGCTCCTCCTCCTTCCTGAGGCCT CGCGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGAGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAG GCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGA GGCCTCACGAG	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	180	0.0056	-360	c.638 others(17): Show c.638-4294_638-3935del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	245974581	CAGGGAAA others(353): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA19090.hp2 HG02602.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0002 a0001c0011t0002 a0001c0002t0002 a0001c0011t0002	a0001c0002t0002g0083 a0001c0011t0002g0049 a0001c0002t0002g0083 a0001c0011t0002g0049	2	150	0.0133	-360	c.532 others(19): Show c.532-45004_532-44645del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975753	GGCCCAGG others(353): Show GGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02027.hp2 HG02300.hp1 HG01433.hp2 HG02027.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0002t0001 a0001c0006t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0001	a0001c0001t0002g0051 a0001c0002t0001g0041 a0001c0006t0001g0025 a0001c0001t0002g0051 a0001c0002t0001g0041 a0001c0006t0001g0025	3	150	0.0200	-360	c.532 others(19): Show c.532-46176_532-45817del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975777	AGCCTAGG others(353): Show AGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCATCTCTAGCCTA GGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	150	0.0067	-360	c.532 others(19): Show c.532-46200_532-45841del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976113	AGCCCAGG others(353): Show AGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	150	0.0067	-360	c.532 others(19): Show c.532-46536_532-46177del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976329	AGCCCAGG others(353): Show AGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGC CATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	150	0.0067	-360	c.532 others(19): Show c.532-46752_532-46393del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976477	CAGGGAAA others(353): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATC GTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02056.hp1 HG02027.hp1 HG02056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0008 a0002c0003t0002g0104 a0001c0001t0001g0008 a0002c0003t0002g0104	2	150	0.0133	-360	c.532 others(19): Show c.532-46900_532-46541del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SNTG2_chr2_945849_1372613	1221558	CTCTCTCT others(353): Show CTCTCTCTCTCTCTCTGTCTCTGTCTGTCGCTGTCGCTCTGTGTATCTCT GTCTCTGTCTGTGTCTCGTGTCGGTGCTCCGGTTCCCCCCAACCTCTGTC TCGGTCCCCCCCGGTCTCGGTCTCTCTCTCTCTCGGTTCTTCTCGGTCTC TGTCTCTGTCTCTATCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTGTGTC TCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTGTCTGTCTCTGTCTC TCTCTCGGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTGTCTC TGTCTCTGTCTCTCTCTCTCTCTGTCTCTGTCTGTGTCTCTCTCTGTCTC TGTCTCTGTCT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0099 a0002c0003t0001g0099	1	190	0.0053	-360	c.719 others(19): Show c.719+12329_719+12688del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16						chr2	TogoVar
STAT3_chr17_42308324_42393442	42338021	GGACCTGA others(353): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02622.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0156 a0001c0001t0005g0155 a0001c0001t0003g0156 a0001c0001t0005g0155	2	302	0.0066	-360	c.550 others(15): Show c.550+350_551-165del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42338161	GGACCTGA others(353): Show GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03130.hp1 HG03471.hp2 others(8): Show HG00558.hp1 HG03130.hp1 HG03471.hp2 NA18952.hp1 NA18953.hp2 NA18969.hp1 NA18988.hp2 NA18991.hp1 NA18994.hp1 NA18997.hp2 NA19001.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0026 a0001c0001t0030 a0004c0006t0010	a0001c0001t0002g0025 a0001c0001t0002g0065 a0001c0001t0002g0069 others(8): Show a0001c0001t0002g0025 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0007g0127 a0001c0001t0009g0125 a0001c0001t0026g0124 a0001c0001t0030g0061 a0004c0006t0010g0004	11	302	0.0364	-360	c.550 others(15): Show c.550+210_551-305del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42338181	TGACCTGA others(353): Show TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	302	0.0033	-360	c.550 others(15): Show c.550+190_551-325del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
THSD4_chr15_71110471_71788383	71724785	GTTAAATA others(353): Show GTTAAATAAGATTTGATGACGGGTTAGATTTGGGGGGATAGGAAGAGAGG AGGTATCCAGGATGATTCCTGGGTTTCTGATTACATGGATGGTGGTACCA TTTACTGAGATAAGAAACACTGAGGCCGGGGTTGGGTTCAGCCTTAGACA AGACATCTGACTAAAGCTGGCAAGGAGGTAATTAAATAAGATTTGATGAC GGGTTAGATTTGGGGGGATAGGAAGAGAGGAGGTATCCAGGATGATTCCT GGGTTTCTGATTACATGGATGGTGATACCATTTACTGAGATAAGAAACAC TGAGGCCGGGGTTGGGTTCAGCCTTAGACAAGACATCTGACTAAAGCTGG CAAGGAGGTAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(90): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18966.hp1 NA18981.hp1 NA18981.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0016 a0001c0019 a0001c0020 a0002c0005 a0002c0011 a0002c0012 a0002c0015 a0004c0014 a0004c0018 a0005c0017 a0006c0013 a0007c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(64): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0030 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0014 a0001c0002t0016 a0001c0002t0024 a0001c0002t0035 a0001c0002t0040 a0001c0002t0043 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0009 a0001c0003t0014 a0001c0003t0016 a0001c0004t0005 a0001c0004t0007 a0001c0004t0017 a0001c0004t0025 a0001c0004t0026 a0001c0004t0029 a0001c0004t0044 a0001c0006t0001 a0001c0006t0007 a0001c0006t0012 a0001c0006t0017 a0001c0007t0015 a0001c0008t0002 a0001c0008t0007 a0001c0009t0006 a0001c0009t0013 a0001c0016t0002 a0001c0019t0003 a0001c0020t0002 a0002c0005t0002 a0002c0005t0003 a0002c0005t0004 a0002c0005t0019 a0002c0005t0033 a0002c0011t0004 a0002c0012t0004 a0002c0015t0007 a0004c0014t0038 a0004c0018t0006 a0005c0017t0023 a0006c0013t0001 a0007c0022t0032	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 others(90): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0002g0075 a0001c0001t0002g0102 a0001c0001t0003g0022 a0001c0001t0006g0021 a0001c0001t0006g0080 a0001c0001t0008g0060 a0001c0001t0009g0085 a0001c0001t0010g0053 a0001c0001t0010g0055 a0001c0001t0010g0074 a0001c0001t0011g0001 a0001c0001t0011g0028 a0001c0001t0011g0094 a0001c0001t0012g0054 a0001c0001t0013g0097 a0001c0001t0018g0115 a0001c0001t0030g0035 a0001c0001t0036g0089 a0001c0001t0037g0106 a0001c0001t0039g0011 a0001c0001t0041g0098 a0001c0001t0042g0104 a0001c0002t0001g0023 a0001c0002t0001g0090 a0001c0002t0002g0012 a0001c0002t0002g0018 a0001c0002t0002g0043 a0001c0002t0002g0073 a0001c0002t0003g0059 a0001c0002t0003g0111 a0001c0002t0005g0045 a0001c0002t0005g0103 a0001c0002t0006g0026 a0001c0002t0006g0066 a0001c0002t0009g0077 a0001c0002t0009g0091 a0001c0002t0014g0007 a0001c0002t0016g0084 a0001c0002t0024g0019 a0001c0002t0035g0017 a0001c0002t0040g0013 a0001c0002t0043g0076 a0001c0003t0001g0034 a0001c0003t0002g0050 a0001c0003t0003g0108 a0001c0003t0009g0057 a0001c0003t0014g0116 a0001c0003t0016g0052 a0001c0004t0005g0100 a0001c0004t0007g0062 a0001c0004t0017g0032 a0001c0004t0025g0069 a0001c0004t0026g0061 a0001c0004t0029g0086 a0001c0004t0044g0029 a0001c0006t0001g0063 a0001c0006t0007g0030 a0001c0006t0012g0078 a0001c0006t0017g0095 a0001c0007t0015g0027 a0001c0008t0002g0099 a0001c0008t0007g0081 a0001c0009t0006g0015 a0001c0009t0013g0039 a0001c0016t0002g0072 a0001c0019t0003g0093 a0001c0020t0002g0082 a0002c0005t0002g0044 a0002c0005t0003g0004 a0002c0005t0003g0114 a0002c0005t0004g0065 a0002c0005t0004g0107 a0002c0005t0004g0113 a0002c0005t0019g0003 a0002c0005t0033g0040 a0002c0011t0004g0048 a0002c0012t0004g0047 a0002c0015t0007g0092 a0004c0014t0038g0016 a0004c0018t0006g0058 a0005c0017t0023g0105 a0006c0013t0001g0038 a0007c0022t0032g0014	93	116	0.8017	-360	c.135 others(19): Show c.1358-3580_1358-3221del		THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr15	TogoVar
TIAM2_chr6_154990315_155262723	155114016	ATATATAT others(353): Show ATATATATATATATATATATATTTTTTTTTTTTTCTTTTTTTTTTTTTTT TTTTTTGAAATGGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTGGTG CCTTCTCAGCTCACTGCAACCTCTGCCTCTCAGGTTCAAGTGATTCTTGT GCCTCAGGCTCCTGAGTAGCTGGGATTACAGAGGCGTGCCACCACACCCA GCTAATATTTGTATTTTTTTGTAGAGATGGGGTTTCACTGTGTTGGCCAG GCTGGTCTCAAATTCCTAATCTCAAGTGATCCTCCTGCCTCAGCCTCCCA AAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCTGCCATGATACATAT TTCTTTATTAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0031 a0006c0010t0002g0031	1	230	0.0044	-360	c.-11 others(21): Show c.-117-13473_-117-13114del		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	2/26						chr6	TogoVar
TMEM120B_chr12_121707752_121787068	121747332	CTGGGGTA others(353): Show CTGGGGTAAAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp2 NA19240.hp2 HG02809.hp1 HG02809.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0099 a0001c0004t0100 a0001c0004t0003 a0001c0004t0099 a0001c0004t0100	a0001c0004t0003g0012 a0001c0004t0099g0010 a0001c0004t0100g0082 a0001c0004t0003g0012 a0001c0004t0099g0010 a0001c0004t0100g0082	3	314	0.0096	-360	c.189 others(15): Show c.189-993_189-634del		TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11						chr12	TogoVar
TRIML1_chr4_188134441_188152743	188152383	TTGAGAAG others(353): Show TTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGT TGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGA GAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG GGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAAGGGAGTGAGAGTGGGGGTGAGAAGGGGA GTGAGAGAGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02257.hp1 NA18522.hp2 HG01109.hp2 HG02257.hp1 NA18522.hp2	a0003 a0006 a0003 a0006	a0003c0005 a0006c0008 a0003c0005 a0006c0008	a0003c0005t0002 a0006c0008t0001 a0003c0005t0002 a0006c0008t0001	a0003c0005t0002g0105 a0006c0008t0001g0076 a0006c0008t0001g0077 a0003c0005t0002g0105 a0006c0008t0001g0076 a0006c0008t0001g0077	3	228	0.0132	-360	c.50 others(11): Show c.5012_*5371del		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					4641		chr4	TogoVar
TRPC4AP_chr20_34997404_35097807	35097278	TATGTACA others(353): Show TATGTACATATATGTGTATATATACATATACATATATACACACGTGTATA TATACATATACATATATACACACGTGTGTATATACATATACATATATACA CACGTGTGTATATACATATACATATGTACACACGTGTGTATATATACATA TGTACACACGTGTGTATATATACATATGTACACACGTGTGTATATATACA TATGTACACACGTGTGTATATATACATATGTACACACGTGTGTATATATA CATATGTACACACGTGTGTATATATACATATGTACACACGTGTGTATATA TACATATACACACGTGTGTATATATACATATACACACGTGTGTATATATA CATATACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	334	0.0030	-360	c.-48 others(11): Show c.-4857_-4498del		TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding					4472		chr20	TogoVar
TUBGCP2_chr10_133273635_133313872	133292012	CCCCCATG others(353): Show CCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCC CTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCC CCATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGA GGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGT CCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACAC TCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGG AGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTG TCCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	284	0.0035	-360	c.121 others(17): Show c.1214+127_1214+486del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TXNDC11_chr16_11674083_11747857	11717640	TGAAACCC others(353): Show TGAAACCCCGTCTCTACTAAAAATACAAAAAATAAGCTGGGCGTGGTGGC AGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCT GAACCTCGGAGGCAGAGGTTGCAGTGAGCAGAGATTTCGCCACTGCACTC CAGCCTGAACGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAGAAAGGC TAATACAATAATGGACAGAAATATGCACAAGAGTTCCTGTCCACAACACC TTAACAGGTGGACCAAGGTAAACTGACAGATCAGCACTGAGGCCGAGCCC TGGAGAAAAAAGGAAACAGTTAAAACAACAAGAGAAGGCAGTTACTATTA GAGTGCTGAGG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp1 HG00741.hp1 HG01175.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0134 a0002c0003t0001g0183 a0002c0003t0001g0134 a0002c0003t0001g0183	2	374	0.0054	-360	c.793 others(17): Show c.793+3577_793+3936del		TXNDC11	ENSG00000153066.13	transcript	ENST00000283033.10	protein_coding	5/11						chr16	TogoVar
WDR81_chr17_1719704_1743585	1739672	TGGCCTGA others(353): Show TGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGC AGGACAGTGAGGGTGGGAGGTGGCCTGATGCAGGGAGTGAGGAGCCGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00609.hp2 others(27): Show HG00140.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01516.hp1 HG01928.hp2 HG01943.hp1 HG02040.hp1 HG02135.hp2 HG02976.hp2 HG03492.hp1 NA18612.hp2 NA18946.hp2 NA18949.hp2 NA18960.hp2 NA18961.hp2 NA18969.hp2 NA18971.hp2 NA18980.hp2 NA18983.hp1 NA18985.hp2 NA18987.hp2 NA19000.hp1 NA19005.hp2 NA19063.hp2 NA19083.hp1 NA20805.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0022	a0001c0003 a0001c0017 a0002c0050 others(2): Show a0001c0003 a0001c0017 a0002c0050 a0004c0061 a0022c0058	a0001c0003t0001 a0001c0017t0001 a0002c0050t0001 others(2): Show a0001c0003t0001 a0001c0017t0001 a0002c0050t0001 a0004c0061t0001 a0022c0058t0001	a0001c0003t0001g0003 a0001c0003t0001g0029 a0001c0003t0001g0034 others(7): Show a0001c0003t0001g0003 a0001c0003t0001g0029 a0001c0003t0001g0034 a0001c0003t0001g0073 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0017t0001g0003 a0002c0050t0001g0049 a0004c0061t0001g0003 a0022c0058t0001g0093	30	431	0.0696	-360	c.19 others(11): Show c.1988_*2347del		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					1088		chr17	TogoVar
ZNF835_chr19_56656980_56676757	56669666	TCAGGAGT others(353): Show TCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCC TCCATTAGCATAAATGTACTTGGGGGTCTACCAGGAGTCCTCCATTAGCA TAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACT TGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTA CCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCC TCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCA TAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACT TGGGGGCCTAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00597.hp1 others(53): Show HG00140.hp2 HG00280.hp1 HG00597.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp2 HG01099.hp2 HG01192.hp1 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG01993.hp2 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02280.hp1 HG02738.hp2 HG02809.hp1 HG03195.hp2 HG03225.hp2 HG03492.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18949.hp2 NA18957.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18978.hp2 NA18981.hp2 NA18994.hp2 NA18999.hp2 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19081.hp1 NA19082.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0003 others(1): Show a0001c0001 a0001c0007 a0003c0003 a0003c0011	a0001c0001t0004 a0001c0007t0022 a0003c0003t0004 others(4): Show a0001c0001t0004 a0001c0007t0022 a0003c0003t0004 a0003c0003t0016 a0003c0003t0017 a0003c0003t0024 a0003c0011t0020	a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0007t0022g0109 others(15): Show a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0007t0022g0109 a0003c0003t0004g0003 a0003c0003t0004g0021 a0003c0003t0004g0039 a0003c0003t0004g0094 a0003c0003t0004g0100 a0003c0003t0004g0106 a0003c0003t0004g0108 a0003c0003t0004g0112 a0003c0003t0004g0122 a0003c0003t0016g0104 a0003c0003t0017g0024 a0003c0003t0017g0102 a0003c0003t0024g0103 a0003c0011t0020g0038 a0003c0011t0020g0101	56	450	0.1244	-360	c.-48 others(17): Show c.-48+1550_-48+1909del		ZNF835	ENSG00000127903.14	transcript	ENST00000537055.4	protein_coding	1/1						chr19	TogoVar
ADARB2_chr10_1172313_1742525	1239573	CCCCCCTC others(352): Show CCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGCTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCC TCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTC CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCC GGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	106	0.0094	-359	c.136 others(19): Show c.1361+2199_1361+2557del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
AGMO_chr7_15195317_15567015	15406572	ACACACAC others(352): Show ACACACACACACACACACGTATATTCCATATAAGTACACATGTACACATG TGTGTATATATATGAATATACATATATATGTGTATATATATGGAATATAC ATATATATGTGTATATATATGGAATATACATATATATGTGTATATATATG TATATACACACATACATATGAATATACATATATATGTATTCCATATGTGT ATATATACACATATATACATATATGCGTGCATATGTACACATATATACCC ACGTATACACATATATGTATATGTATATGTGATCCTAAAATTGTTAGTGA CAACGGTGCCAGTTCAGGTCAGAAGACTCAAAAGGCCCCTTTGTTTGGAA TACACACGCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01168.hp2 HG01169.hp1 others(10): Show HG00280.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01433.hp1 HG02165.hp2 HG02572.hp2 HG02615.hp1 HG02683.hp1 HG02735.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0001c0005 a0014c0014 a0001c0001 a0001c0005 a0014c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0005t0001 a0014c0014t0001	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0036 others(10): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0099 a0001c0001t0001g0130 a0001c0001t0001g0219 a0001c0001t0003g0220 a0001c0001t0005g0039 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0145 a0001c0005t0001g0018 a0014c0014t0001g0180	13	236	0.0551	-359	c.609 others(19): Show c.609+11627_609+11985del		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	5/12						chr7	TogoVar
ERICH1_chr8_659200_736224	675292	CGGCGAGG others(352): Show CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGC CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAG AGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAG GACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCG GCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGG CGCCCCCTCG	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0234 a0001c0009t0001g0234	1	378	0.0027	-359	c.305 others(17): Show c.305-1604_305-1246del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
GALNS_chr16_88808734_88861947	88831455	GGGGAGGA others(352): Show GGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGG TGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACG GGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAG GAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGC CGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGC GGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCA CGGGGAGCGT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03041.hp1 HG03225.hp1 others(1): Show HG02572.hp1 HG03041.hp1 HG03225.hp1 NA19043.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0011 a0009c0015t0013 a0009c0015t0011 a0009c0015t0013	a0009c0015t0011g0063 a0009c0015t0011g0390 a0009c0015t0013g0394 others(1): Show a0009c0015t0011g0063 a0009c0015t0011g0390 a0009c0015t0013g0394 a0009c0015t0013g0395	4	404	0.0099	-359	c.100 others(17): Show c.1002+184_1002+542del		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar
NEK7_chr1_198151998_198327420	198278140	AAGTCAGT others(352): Show AAGTCAGTACATAATACCATACTTTTTCAGGTAATTATTTTCAAATTATA ATTATGCTAGAATGTTAAACCTTTAAATAAAGCACTACTAGGTTTTAAAT AAGAATGTAAATTAATCTGCTTGACTCTTTTGAGCATCTTACTAACCAGT AAGATGCTGTTGGTAAAGATAAGACAGCAATCAAATATATATAAGGAAGA GTTTTTTGTTTCTTCAAATAAACAATGTATATCATAACCACTTAGATTTT TAATATTCAGTATTAGCTCAGCATTCTTTTCATTCAAGTGGTTGAGCAGA GTGTGTTAACATTACATCAATAAGTAATTGATCCGCTGATACTGAAGTGT GAAAAATTTT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	346	0.0029	-359	c.481 others(14): Show c.481+73_481+431del		NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NPIPB4_chr16_21829582_21862756	21836177	ATTATCAT others(352): Show ATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGAC GCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCC CGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGC TGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTAT CATCGGCTGATGGTGGAAGCGGAATCCGCAGACGCTCAGCAGGTATCTTG ATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTG ACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGCAGG TGTCTTGATG	A A	frameshift_variant frameshift_variant	HIGH	HG03831.hp1 HG03831.hp1	a0054 a0054	a0054c0056 a0054c0056	a0054c0056t0001 a0054c0056t0001	a0054c0056t0001g0180 a0054c0056t0001g0180	1	204	0.0049	-359	c.185 others(9): Show c.1851_2209del	p.Phe others(5): Show p.Phe623fs	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	2424/4020	1851/3669	617/1222			chr16	TogoVar
NXN_chr17_794310_984776	948805	ACGGCCTC others(352): Show ACGGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCGCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCC TCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CCCTGCCTCCTCCTCTCCCCGCGGGCTCCTCCTCTCCCCCCGGGCTCCTC CTCTCCCCCCGGGCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGC CTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCC CCGTGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCT CCTCTCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0236 a0003c0012t0001g0236	1	242	0.0041	-359	c.360 others(19): Show c.360+30155_360+30513del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
PAPLN_chr14_73232506_73279623	73247862	GTGGCCCA others(352): Show GTGGCCCAGTGGGAGTCTCATATCCTCCGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTTGTGGGGACCGTGGCTGTGGGCATGG CCCACTGGGAGTCTCATATCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTTGGGATTGTGGCTGTGGGTGTGGCCCAGTGGG AGTCTCATATCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCG TGTGTGTGTTGTGGGGATCGTGGCTGTGGGCATGGCCCAGTGGGAGTCTC ATATCCTCTGTGTGTGTGTGTGTGTGTCTGTGTGTGTTGTGGGGATTGTG GCTGTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0090 a0004c0005t0001g0090	1	418	0.0024	-359	c.334 others(17): Show c.334+1714_335-1737del		PAPLN	ENSG00000100767.17	transcript	ENST00000644200.2	protein_coding	5/26					INFO_REALIGN_3_PRIME	chr14	TogoVar
PARVB_chr22_44019302_44177939	44113201	GTTACTAA others(352): Show GTTACTAACTAAGGCCCTGCACCAACACAGATACGTTGTTACTAAGTAAG GCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAAC ACAGATACATTGTTACTAAGGCCCTGCACCAACACAGATACATTGTTACT AACTAAGGCCCTGCACCAACACAGATACGTTGTTACTAAGTAAGGCCCTG CACCAACACAGATACATTGTTACTAAATAAGGCCCTGTACCAACACAGAT ACATTGTTACTAACTAAGGCCCTGCACCAACACAGATACGTTGTTACTAA GTAAGGCCCTGTACCAACACAGATACATTGTTACTAACTAAGGCCCTGCA CCAACACAGA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18973.hp1 NA19074.hp1 NA18971.hp2 NA18973.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0002t0001g0251 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0002t0001g0251	3	332	0.0090	-359	c.274 others(17): Show c.274-5835_274-5477del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PCMT1_chr6_149744741_149816419	149762543	TCTATGAT others(352): Show TCTATGATATATATATATCTATGATATATATATCTATGATATATATATCT ATGATATATATATCTATGATATATATATATCTATGATATATATATATCTA TGATATATATATGATATATATATCTATGATATATATATATCTATGATATA TATATATCTATGATATATATATCTATGATATATATATCTATGATATATAT ATATCTATGATATATATACCTATGATATATATATACCTATGATATATATA CCTATGATATATATATCTATGATAATCTATGATATATATGATATATATAT CTATGATATATATCTATGATATATATATCTATGATATATATGTTATATAT ATCTATGATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	334	0.0030	-359	c.56- others(15): Show c.56-8618_56-8260del		PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7						chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1289837	CCCGTCCC others(352): Show CCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0128 a0004c0005t0006g0128	1	290	0.0035	-359	c.166 others(16): Show c.1663-421_1663-63del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC7A1_chr13_29504414_29600688	29558771	GGGGGAGA others(352): Show GGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGA ATCTGAATGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTG AGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAG AATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAATG AGGGGGGAGTGAATGTGAGGGGGGAGAGAATGTGAGTGAGGGGGAGTGAA TGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAG GCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGA ATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01496.hp1 HG01943.hp1 others(23): Show HG01074.hp2 HG01496.hp1 HG01943.hp1 HG01952.hp2 HG02055.hp1 HG02155.hp1 HG02280.hp1 HG02572.hp2 HG02735.hp1 HG02886.hp1 HG02976.hp1 HG03098.hp1 HG03453.hp2 HG03579.hp1 HG03704.hp1 HG03942.hp2 HG04184.hp2 NA18522.hp1 NA18948.hp1 NA18970.hp2 NA18998.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19066.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0010 others(1): Show a0001c0003t0001 a0001c0003t0005 a0001c0003t0010 a0001c0003t0033	a0001c0003t0001g0070 a0001c0003t0005g0003 a0001c0003t0005g0071 others(21): Show a0001c0003t0001g0070 a0001c0003t0005g0003 a0001c0003t0005g0071 a0001c0003t0005g0072 a0001c0003t0005g0099 a0001c0003t0005g0136 a0001c0003t0005g0194 a0001c0003t0005g0195 a0001c0003t0005g0196 a0001c0003t0005g0198 a0001c0003t0005g0206 a0001c0003t0005g0208 a0001c0003t0005g0214 a0001c0003t0005g0217 a0001c0003t0005g0220 a0001c0003t0010g0081 a0001c0003t0010g0207 a0001c0003t0010g0209 a0001c0003t0010g0210 a0001c0003t0010g0211 a0001c0003t0010g0212 a0001c0003t0010g0213 a0001c0003t0010g0215 a0001c0003t0033g0060	26	330	0.0788	-359	c.-11 others(19): Show c.-114-5270_-114-4912del		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
STRBP_chr9_123116617_123273586	123162274	GAGTGCAC others(352): Show GAGTGCACTGGCACGATCTCAGCTCACTGCAACCTCTTCCTCCCAGGCTC AAGCGATCCTCCCACCTCACCCTCCTGAGTAGCTGGGACTACAGGCATGT GCCACCATACCCAGCTAATTTTTTTGTAGATATGGGATCTCACTATGTTA CCCAGGCTGGTCTCAAACTCCTGGACTCAAGCAATGTGCCTGCCTTGGCC TCCCAAAATGCTGCGACTACAGACATGAGCCACCACACCCAGCCAATGTT TATTCTAACTGATGAAATGTCATTAAAAAAGGCATAATGCCAATAGGAAA CAAATCTATTAAAGGAAGAACTGTGGTTCTCTTTACTGGCCATGACACTG TAAAGGCTGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0230 a0001c0002t0002g0230	1	236	0.0042	-359	c.536 others(17): Show c.536-1565_536-1207del		STRBP	ENSG00000165209.19	transcript	ENST00000348403.10	protein_coding	6/18						chr9	TogoVar
TMEM44_chr3_194582678_194638419	194630053	TCCCTGAA others(352): Show TCCCTGAAATAATACGCTGTCGTACCTGCCTCCCGAAGGGGCTGGCTGTT TCCATCGGCGTCACTGATAGGGCCCCTGAAATAATACGCTGTCGTACCTG CTTCCCGAAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGCCCCTG AAATAATACGCTGTCGTACTGCCTCCCGAAGGGGCTGGCTGTTTCCATCG GCGTCACTGATAGGGCCCCTGAAATAGTATGCTGTCGTACCTGCCTCCAG AAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGCCCCTGAAATGAT ACGCTGTCGTACCTGCCTCCCGAAGGGGCTGGCTGTTTCCGTCGGCATCA CTGATAGGGC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	404	0.0025	-359	c.138 others(17): Show c.138-1903_138-1545del		TMEM44	ENSG00000145014.18	transcript	ENST00000347147.9	protein_coding	1/9						chr3	TogoVar
TMEM44_chr3_194582678_194638419	194630220	ACTGCCTC others(352): Show ACTGCCTCCCGAAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGCC CCTGAAATAGTATGCTGTCGTACCTGCCTCCAGAAGGGGCTGGCTGTTTC CATCGGCGTCACTGATAGGGCCCCTGAAATGATACGCTGTCGTACCTGCC TCCCGAAGGGGCTGGCTGTTTCCGTCGGCATCACTGATAGGGCCCCTGAA ATAATACGCTGTCGTACTGCCTCCCGAAGGGGCTGGCTGTTTCCATCGGC GTCACTGATAGGGCCCCTGAAATAGTATGCTGTCGTACCTGCCTCCAGAA GGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGCCCCTGAAATGATAC GCTGTCGTAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG04199.hp2 HG00642.hp2 HG04199.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0002 a0002c0006t0001 a0002c0006t0002	a0002c0006t0001g0173 a0002c0006t0002g0172 a0002c0006t0001g0173 a0002c0006t0002g0172	2	404	0.0050	-359	c.138 others(17): Show c.138-2070_138-1712del		TMEM44	ENSG00000145014.18	transcript	ENST00000347147.9	protein_coding	1/9						chr3	TogoVar
TPGS1_chr19_502497_524654	513997	GCTGGCCC others(352): Show GCTGGCCCAGCATTTACTGAGCACCCACTGTACACAGACCCAGCATTACT GAGCACCCACTGCACACTGGCCCCACATTTGCTGAGCACCTACTATGTAC CAGCCCTGCATTCACTAAGCACCTACTGTACACCAGCCCTGTATTACTGA GCACCCACTGCACACTGACCCTACATTTACTGAGCACCTATTGCATGCTG GCCCAGCATTTACTTCACTCCCACTGCACACCGCCCCAGCATTACTGAGT ACCTACCGTGTACTGGCCCTGCATTCACTGAGCACCTACTCTACACCGGC CCTGTATTACTGAGCACCCACTGCACACCGACCCCACGTTTACTAAGCAC CTATTGCTTA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0153 a0002c0004t0001g0153	1	344	0.0029	-359	c.339 others(17): Show c.339-4862_339-4504del		TPGS1	ENSG00000141933.9	transcript	ENST00000359315.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr19	TogoVar
VCX3B_chrX_8459830_8471510	8466568	TGGTGTGT others(352): Show TGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGGAGGAAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0066 a0066	a0066c0082 a0066c0082	a0066c0082t0004 a0066c0082t0004	a0066c0082t0004g0002 a0066c0082t0004g0002	1	271	0.0037	-359	c.18 others(9): Show c.186_*544del		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					59		chrX	TogoVar

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Search Results (Total: 10000 hits)