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
DPH7_chr9_137549444_137583925	137567190	GGGGTGAC others(373): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02280.hp2 HG03471.hp1 others(1): Show HG01123.hp1 HG02280.hp2 HG03471.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0002 a0001c0001t0002 a0001c0009t0002	a0001c0001t0002g0257 a0001c0001t0002g0303 a0001c0001t0002g0309 others(1): Show a0001c0001t0002g0257 a0001c0001t0002g0303 a0001c0001t0002g0309 a0001c0009t0002g0308	4	340	0.0118	-380	c.641 others(17): Show c.641-2416_641-2037del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567256	TGTCTGTG others(373): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	340	0.0029	-380	c.641 others(17): Show c.641-2482_641-2103del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
EIF3B_chr7_2349827_2385745	2377691	ATGCTGTG others(373): Show ATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTG TTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTGCT GGGATGCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAG GCGCGAGCTCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCAT GGAGGAAGGAGCAGGCACGAGCGCTCCTGGG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01168.hp2 HG01255.hp1 others(28): Show HG01167.hp2 HG01168.hp2 HG01255.hp1 HG01884.hp2 HG02109.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02965.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp2 NA18522.hp2 NA18950.hp1 NA18974.hp2 NA18983.hp2 NA18988.hp2 NA18995.hp2 NA19030.hp1 NA19062.hp1 NA19082.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0017 a0001c0001t0001 a0002c0002t0001 a0002c0002t0017	a0001c0001t0001g0041 a0002c0002t0001g0002 a0002c0002t0001g0009 others(22): Show a0001c0001t0001g0041 a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0240 a0002c0002t0001g0256 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0277 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0335 a0002c0002t0017g0190	31	384	0.0807	-380	c.215 others(17): Show c.2154+617_2155-618del		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18						chr7	TogoVar
GYG2_chrX_2823930_2887818	2845039	ATGTGTAT others(373): Show ATGTGTATGTATATATACACGTGTGTATGTATATTTATATACACGTGTGT ATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTAT GTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGT ATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTAT ATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATAT TTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTT ATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTTAT ATACACGTGTGTATGTATATTTATATACACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00621.hp1 others(28): Show HG00099.hp1 HG00438.hp1 HG00621.hp1 HG01168.hp1 HG01358.hp1 HG02080.hp2 HG02083.hp1 HG03491.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18945.hp1 NA18950.hp2 NA18956.hp2 NA18960.hp1 NA18967.hp1 NA18979.hp2 NA18986.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19009.hp1 NA19060.hp1 NA19081.hp1 NA19087.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0010 a0002c0002t0019	a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0194 others(28): Show a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0194 a0001c0001t0001g0298 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0003g0161 a0001c0001t0004g0159 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0170 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0144 a0002c0002t0002g0152 a0002c0002t0002g0154 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0174 a0002c0002t0003g0136 a0002c0002t0003g0166 a0002c0002t0003g0168 a0002c0002t0003g0299 a0002c0002t0004g0145 a0002c0002t0004g0151 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0002t0004g0297 a0002c0002t0010g0157 a0002c0002t0019g0143	31	316	0.0981	-380	c.149 others(17): Show c.149+1699_149+2078del		GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IPMK_chr10_58186517_58272894	58245170	CAGTGTAA others(373): Show CAGTGTAACAAAAAGATAAATACTACATGATTACACTTATAGGAGATATT TAAAGCAGTTAAATTCTTAGAAAACAGAAAATAGAATGATAGCTGCCAGG GGCCAGGAGAAGGGAGAAAAGAGTTGTTCAGTGGACATGAGTTTTAAAAG ATGAAAAAGTAGGCTAGAAAATAATGGCTCATGCCTATAATCCCAGTACT CTGGGAGGCCAAGACAGCCGGATCACGAGGTCAGGAGTTCAAAACCATCC TGGCCATCATAGTGGAACCCCGTCTCTACTGAAAGCACAAAAATTAGCCA GGGGTGGTACCACATGCCTGTAATCCCAACTACTCGGGAGGCTGGGGTAG GACAATCGCTTGAACACAGGAGGCGGATGCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp1 HG02717.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0151 a0001c0001t0003g0152	2	346	0.0058	-380	c.191 others(17): Show c.191-7736_191-7357del		IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	1/5						chr10	TogoVar
KLK4_chr19_50901351_50916395	50913650	GTCTCTCT others(373): Show GTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTCTCTGCACCT GTGTCTGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGT CTCTCTGTCTGTGTCTCCGCACCTGTGTGTCTGTCCATCTTTCTCTGTGT CTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTGTCTCCGCAC CTGTGTCTCTGTCCATCTTTCTCTGTGTCTCTCTCTCCTCCCATCTCTGT CTCTGTCTCTCTGTCTGTGGCTTCGCACCTGTCTCTGTCCATCTTTCTCT GTGTCTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTGTCTCC GCACCTGTGTGTCTGTCCATCTTTCTCTGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	414	0.0048	-380	c.-27 others(11): Show c.-2703_-2324del		KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding					2256		chr19	TogoVar
LOC128462377_chr16_89312046_89423292	89400374	CGGTCATC others(373): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTG CTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCT TCCCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGG GGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATC TGCTGCCCCAGGCTTCCCTGCGCTGGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03041.hp1 HG03453.hp2 others(2): Show HG02109.hp2 HG03041.hp1 HG03453.hp2 HG03471.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0008 a0001c0001t0000g0020 a0001c0001t0000g0021 others(2): Show a0001c0001t0000g0008 a0001c0001t0000g0020 a0001c0001t0000g0021 a0001c0001t0000g0022 a0001c0001t0000g0044	5	366	0.0137	-380	c.9+1 others(15): Show c.9+17530_9+17909del		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1						chr16	TogoVar
MYZAP_chr15_57586904_57690364	57688023	TATATAAA others(373): Show TATATAAATGTGTGTACAATATACACATATATAATATGTGTGTACAATAT ACACATATATATGTGTGTACAATATACACATATATATGTGTGTACAATAT ACACATATATATGTGTGTACAATATACACATATATATGTGTGTACAATAT ACACATATATATGTGTGTACAATATACACATATATATGTGTGTACAATAT ACACATATATATGTGTGTACAATATACACATATATTATGTGTGTACAATA TACACATATATTATGTGTGTACAATATACACATATATAATATGTGTGTAC AATATACACATATATATAATATGTGTGTACAATATACACATATATATAAT ATGTGTGTACAATATACACATATAATATAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18988.hp2 NA19087.hp2 NA18983.hp1 NA18988.hp2 NA19087.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0043	3	352	0.0085	-380	c.35 others(11): Show c.3526_*3905del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2660		chr15	TogoVar
P2RX5_chr17_3668227_3701155	3685658	CCCAGCCT others(373): Show CCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCA GGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAA CACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCC CAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAA CGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGC CCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02896.hp1 HG02897.hp2 others(3): Show HG00733.hp1 HG02896.hp1 HG02897.hp2 NA18964.hp1 NA18971.hp2 NA18974.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0047 a0001c0005t0001g0101 a0002c0002t0001g0005 others(2): Show a0001c0001t0001g0047 a0001c0005t0001g0101 a0002c0002t0001g0005 a0002c0002t0001g0103 a0003c0004t0001g0325	6	362	0.0166	-380	c.981 others(17): Show c.981+1974_981+2353del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
ROR2_chr9_91717601_91955228	91797364	TGGGGCTG others(373): Show TGGGGCTGACACCCTGGGATCTGTGGATAGGGCTGACACCCTGGGCTCTG TGGGTGGGGCTGACACCCTGGGCTCTGTGGGTGGGGAATGACACACTGGG CTCTGTGGGCGAGGCTGACACCCTGGGCTAGTGGGTGGAGTTGACACCAT GGGGTCTGTTAGTGGGGAATGACACCCTGGGCTCTGTGGGTGGGGCTGAC ACCCTGCATTCTGTGGGCGGGGCTGACACCCTAGGCTCTGTGGGTGGGGA ATGACACCCTGGGATCTGTGGGTGGGGCTGACACCCTGGGCTCTGTGGGT GGGGCTGACACCCTGGGATCTGTGGATAGGGCTGACACCCTGGGCTCTGT GGGTGGGGCTGACACCCTGGGCTCTGTGGGC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0066 a0002c0004t0003g0066	1	226	0.0044	-380	c.98- others(17): Show c.98-21926_98-21547del		ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8						chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1289015	TCCCGTGT others(373): Show TCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0268 a0001c0001t0011g0268	1	290	0.0035	-380	c.166 others(17): Show c.1662+987_1663-868del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	246234156	CAGAGGAG others(373): Show CAGAGGAGAAGCACTCCTCAATTCACACTGTGATGAACATATACCACACA GAGGAGAAGCGCTCCTTCAATTCACACTGTGATGAACATATACCACACAG AGGAGAAGCACTCCTCAATTCACACTGTGATGAACATACACCAGAGGAGA AGTGCTCCTTCCACTCACACTGTGATGAACATGTACCACATGGAGGAGAA GCACTCCTTCAGTTCATACTGTGATGAACATATACCACACAGAGGAGAAG CACTTCTTCCATTCACACTGTGATGAACATATACCATGCAGAGAAGTACT CCTTCCGTTAACACCATGATGACTATATACTGTACAGAGAAGCACTCCTT CAGTTCACACTGTGATGAATATACACCGTAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01243.hp1 others(6): Show HG00733.hp2 HG01109.hp1 HG01243.hp1 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02717.hp1 HG03130.hp1 NA18522.hp1	a0002 a0002	a0002c0007 a0002c0008 a0002c0017 a0002c0007 a0002c0008 a0002c0017	a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 others(2): Show a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001	a0002c0007t0001g0120 a0002c0007t0001g0123 a0002c0007t0001g0124 others(6): Show a0002c0007t0001g0120 a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125 a0002c0017t0001g0122	9	150	0.0600	-380	c.531 others(19): Show c.531+92665_531+93044del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SNTG2_chr2_945849_1372613	1112317	CTAAGTGA others(373): Show CTAAGTGAGGTTTAACCCTTATACTCCTTTGAGAAGAATCGTGTGTACTA ACTGAGGTTTAATCCTCACAGTACTTGGAGGAGGATCATGTATACTAAGT GAGGTTTAACACTTACAGTTCATTGAGGAGGATTTTGTGTACTAAGTGAG GTTTAAACCTCACAGTCCTTTGTGAAGGATCGTGTGTACTAAGTGAGGTG TAACCCTTACAGTCCTTTCAGAAAGATCGTGTGTACTAAGTGAGGTGTAA CCCTTACAGTCCTTTGAGAAAGATCGTGTGTACTAAGTGAGGTTTTACCC TTACAGTCCTTTGAGGAGAATCATGTGTACTAAGTGAGGGTTAACCCTTA CAGTCCTTTGAGGAGAATCATGTGTACTAAG	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA21309.hp2 HG03710.hp1 NA21309.hp2	a0003 a0007 a0003 a0007	a0003c0007 a0007c0016 a0003c0007 a0007c0016	a0003c0007t0001 a0007c0016t0001 a0003c0007t0001 a0007c0016t0001	a0003c0007t0001g0080 a0007c0016t0001g0135 a0003c0007t0001g0080 a0007c0016t0001g0135	2	190	0.0105	-380	c.325 others(19): Show c.325+13909_325+14288del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE12_chr7_74899289_74920078	74908712	CGCCCAGG others(373): Show CGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCAGGTTCACGCCATTCTCCTCCCTCAGTCCTCAGAGTAGCTGGGAC TACAGGCGCCCGCCACCACACCCGGCTAATTTTTGTATTTTTTTTTTTTT AAGTGGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGCTCTCCTG ACCTTGTGATCCGCCCACCTCGGCCTCCCAAACTGTTGAGATTACAGGCG TGAGCCACCGCACCTGGCCTGTTTTACTCTTGTATTTGTACACTGGCATT GGAGTTTGGTTTTTTTGCCTGGTTTTTTTTTTTTTTTTTGGCTTTTTTTT TTTTTTTTTTGAGAAAAAGTCTCACTCTGTT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19004.hp1 NA18971.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	350	0.0057	-380	c.494 others(15): Show c.494+430_494+809del		SPDYE12	ENSG00000184616.12	transcript	ENST00000618416.5	protein_coding	5/7						chr7	TogoVar
STAT3_chr17_42308324_42393442	42337874	AACTCCTT others(373): Show AACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAA TACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAA TACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAA TACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGA CCTGAGGGAATACTCCTGGACCTGAGGGAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA21309.hp2 HG01243.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0031 a0001c0001t0003 a0001c0001t0031	a0001c0001t0003g0157 a0001c0001t0031g0229 a0001c0001t0003g0157 a0001c0001t0031g0229	2	302	0.0066	-380	c.551 others(14): Show c.551-397_551-18del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42338141	GGACCTGA others(373): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19083.hp1 NA20300.hp1 HG02451.hp1 NA19083.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0076 a0001c0001t0013g0265 a0001c0001t0013g0267 a0001c0001t0007g0076 a0001c0001t0013g0265 a0001c0001t0013g0267	3	302	0.0099	-380	c.550 others(15): Show c.550+210_551-285del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
TRPM2_chr21_44348621_44447644	44396364	GTGTGGAG others(373): Show GTGTGGAGGGGTGTGGAGGGGTGTGGAGGGCTGTGGAGGGATGTGGAGGC TTGTGGAGGGCTGTGGAGGGATGTGGAGGCTGTGGAGGGGTGTGGAGGGG TGTGGAGGGGTGTGGAGGCTGTGGAGGGATGTGGAGACTGTGGAAGGGTG TGGAGGCTGTGGAGGGGTGTGGAGGCTGTGGAGGGGTGTGGAGGCTGTGA AGGGGTGTGGAGGCTGTGGAGGGGTGTAGAGGGGTGTAGAGGGTTGTGGA GGCTGTGGAGGGGTGTGGAGGGCTGTGGAGGGGTGTGGAGGGGTGTGGAG GCTGTGGAGGGGTGTGGAGGGTTGTGGAGGGGTGTGGAGGGGTGTGGAGG CTGTGGAGGGGTGTGGAGGGATGTGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0003 a0003c0014t0003	a0003c0014t0003g0044 a0003c0014t0003g0044	1	44	0.0227	-380	c.193 others(17): Show c.1932+843_1933-974del		TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	12/31					INFO_REALIGN_3_PRIME	chr21	TogoVar
TSPEAR_chr21_44492893_44716572	44503706	CGGTGAGC others(373): Show CGGTGAGCCCTCGGCGGGAAGCAAGGCTCTGGGAGGAGGCCGGAGTTGGT GAGCCCTCGGGGGGAAGCAAGGCTCTGGGAGGAAGCTGGCCTCGGTGAGC CCTCGGGGGGAAGCAAGGCGCTGGGAGGAGGCCGGCCTTGGTGAGCCCTT GGGGGGAAGCCGGCCTTGGTGAGCCCACAGGGGGGAAGCAATGTGCTGGG AGGAAGCTGGCCTCGGTGAGCCCTCGGCGGGAAGCAAGGCTCTGGGAGGA GGCCGGAGTTGGTGAGCCCTCGGCGGGGAAGCAAGGCTCTGGGAGGAAGC CGGCCTCGGTGAGCCCTCAGCAGGAAGCAAGGCTCTGGGAGGAAGTTGGC CTCGGTGAGCCCTTGGGGGGAAGCTGGCCTT	C C	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	294	0.0034	-380	c.185 others(18): Show c.1856+694_1856+1073del		TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	11/11						chr21	TogoVar
ZBTB42_chr14_104796101_104809712	104808084	ACTCCCCA others(373): Show ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCG TACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCC CCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCA GGATAACAAGGCCGTACAGAGCACCCCCAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0000 a0002c0002t0004g0000	1	99	0.0101	-380	c.56 others(11): Show c.5619_*5998del		ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding					3373		chr14	TogoVar
ADARB2_chr10_1172313_1742525	1238333	CTCCCGGT others(372): Show CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTC ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCAC TCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCCCTGCCTCCCGGTGTTTACTCCCTGCA	C C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0082 a0002c0002t0004g0082	1	106	0.0094	-379	c.136 others(19): Show c.1361+3419_1361+3797del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
AFDN_chr6_167821911_167977023	167976173	GCAGTGGG others(372): Show GCAGTGGGGGTCATTCCCCCTGCAGTGTTGGGGGAGGAGAAGGCAGTGGG GGTCATTCCCCCTGCAGTGTGTGGGGAAGGAGGAGGCAGTGGGGGTCATT ACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGC AGTGTGTGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGG GGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAG AAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGT GGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGAAGACAGTGGGGGTCA TTCCCCCTGCAGTGTGTTGGGAGGAGAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00597.hp2 others(11): Show HG00408.hp2 HG00558.hp2 HG00597.hp2 HG02080.hp1 HG02602.hp1 HG02735.hp1 HG03834.hp2 HG03942.hp2 NA18954.hp1 NA18964.hp1 NA18975.hp2 NA18992.hp1 NA19011.hp1 NA19083.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0003 a0001c0005 a0001c0024 others(2): Show a0001c0003 a0001c0005 a0001c0024 a0002c0014 a0014c0015	a0001c0003t0001 a0001c0003t0021 a0001c0005t0001 others(3): Show a0001c0003t0001 a0001c0003t0021 a0001c0005t0001 a0001c0024t0001 a0002c0014t0001 a0014c0015t0001	a0001c0003t0001g0032 a0001c0003t0001g0039 a0001c0003t0001g0055 others(11): Show a0001c0003t0001g0032 a0001c0003t0001g0039 a0001c0003t0001g0055 a0001c0003t0001g0070 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0079 a0001c0003t0001g0271 a0001c0003t0001g0275 a0001c0003t0021g0062 a0001c0005t0001g0085 a0001c0024t0001g0124 a0002c0014t0001g0037 a0014c0015t0001g0082	14	326	0.0429	-379	c.62 others(11): Show c.6239_*6617del		AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding					4151		chr6	TogoVar
C2CD4C_chr19_400445_414147	404033	GGGGGACG others(372): Show GGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCC CGAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGG ACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGG GGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGG GTCCTGCCCTGAGGGGTGTGGGGGGGACGGGTCCTGTCCTGAGGGGTCTG AGGGGGGGACGGGGTCCTGCCCTGAGGGGGTGTGGGGGGGACGGGGTCCT GCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGAG GGGGGGACGGGGTCCTGCCCTGAGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02165.hp2 NA18962.hp1 others(1): Show HG02027.hp1 HG02165.hp2 NA18962.hp1 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0080 a0001c0002t0003 a0001c0002t0080	a0001c0002t0003g0002 a0001c0002t0080g0134 a0001c0002t0003g0002 a0001c0002t0080g0134	4	322	0.0124	-379	c.26 others(11): Show c.2684_*3062del		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1411		chr19	TogoVar
CNGA1_chr4_47930977_48021681	47989673	GGGAAGCT others(372): Show GGGAAGCTGGTGGTGTTTGGTTACATGAGTAAGTTCTTTTGTGGTGATTT GTGAGATTTCATTGCACCCATTGCCCAAGCAGTATACACTGAACCCTATT TGTAGTCTTTGCTCCCTCACCCCCTTCCCACCCTTTCCCCCTGATTCCCC AAGTCCATTGTGTCATTCTTATTGCGGGAAGTCAAGAACCCCAAACGGAG GGACCAGCTGAAGCTGCAGCAGAAGAACATAAATTGTGAAGATTTCATGG ACATTTATTAGTTCCCAGAATTAATACTTTTATAATTTCTTATGCCTGTC TTACTTTAATCTCTTAATCCCATCATCTTCATAAGCTGAGGATGTGTGTT GCCTCAGGACCCTGTGATGATTGCATTAAC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	366	0.0027	-379	c.-12 others(19): Show c.-122-8552_-122-8174del		CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	2/10						chr4	TogoVar
COL5A1_chr9_134636803_134849843	134849464	CCAGGAAG others(372): Show CCAGGAAGCACGGGATCACACCTCCCAGGAACCACGATATCACACCTCCC AGGAAGCACAGGATCACACCTCCCAGGAACCATGATATCACACCTCCCAG GGAGCACAGGATCAGACCCCCCAGGGAGCACAGGATCACACCTCTCAGGA AGAACAGGATCACACCTCCCGGGGAAGACGATAGCACACCTCCCAGCGAG TGTGAGATCACACCTCCCAGTGAGCGTGGGATCACACCTCCCAGGAAGCA TGGTATCACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGAAGCACG GGATCACACCTCCCAGGAAGCATGGGATCACACCTCCCAGGGAGCACCAG ATCACACCTCCCAGGAACCACGATATCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG03098.hp1 HG02622.hp1 HG02970.hp1 HG03098.hp1	a0001 a0001	a0001c0007 a0001c0049 a0001c0064 a0001c0007 a0001c0049 a0001c0064	a0001c0007t0015 a0001c0049t0003 a0001c0064t0019 a0001c0007t0015 a0001c0049t0003 a0001c0064t0019	a0001c0007t0015g0200 a0001c0049t0003g0183 a0001c0064t0019g0010 a0001c0007t0015g0200 a0001c0049t0003g0183 a0001c0064t0019g0010	3	272	0.0110	-379	c.71 others(11): Show c.7162_*7540del		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding					4622		chr9	TogoVar
CSF2RA_chrX_1263814_1314935	1314556	CTGCCCAA others(372): Show CTGCCCAATCCCACTGCACCTGCCCAACCCCACTGCACCTGCCCAACCCC ACTGCACCTGCCCAACCACACTGAACCTGCTCAACCCCACTTCACCTGCC CAACTGCACTGCACTTGCCCAACCCCTCTGTGCCTGCCCAACCCCACTGT GCCTGCCCAATCGCACTGCACCTGCCCAATCCCACTGCACCTGCCCAATC CCACTGCACCTGCCCAATCCCACTGCACCTGCCCAATCCCACTGCACCTG CCCAACCCCACTGTGCCTGCCCAACCGCACTGCACCTGCCCAATCCCACT GCACCTGCCCAACCGCACTGCACCTGCCCAACCACACTGAACCTGCTCAA CCCCACTTCACCTGCCCAACCGCACTGCAC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	159	0.0063	-379	c.50 others(11): Show c.5078_*5456del		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding					4622		chrX	TogoVar
DLGAP2_chr8_732628_1713476	993065	ACCCCCTG others(372): Show ACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGC CCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCC TTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCC CACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCT CTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTC TTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCT GTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGT TCCTGTTCTTCTCTCCCACCTTGCCCAGAC	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0039 a0001c0002t0009g0039	1	40	0.0250	-379	c.73+ others(17): Show c.73+85104_73+85482del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	993098	CTTCTCTC others(372): Show CTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCC TGTTCTTCTCTCCCTCCTTGCCCGGACCCCCTGCACCCCCATACTCGGAG TTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTC GGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCC CCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGC ACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCC CTGCACCCCCATACTCGGAGTTCCTGTTCT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	-379	c.73+ others(17): Show c.73+85134_73+85512del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
EXOC2_chr6_480154_698139	676840	ACTCTGCG others(372): Show ACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGGTTCCTC TGGAGACTGCGGTTCCCCATACTCTTCAACATTACAGAAAGGACAGGTTC CTCTGAAGACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACA GCTTTCTCTGGAGACTGCGGTTCCCCATACTCTTCAACATTACGGAAAGG ACAGCTTTCTCTGGAGACTCTGCGGTTCCCCATACTCTTCAACATTACGG AAAGGACAGCTTTCTCTGGAGACTGCGGTTTCCCATACTCTTCAACATTA CGGAAAGGACAGCTTTCTCTGGAGACTGCGGTTCCCCATACTCTTCAGCA TTACGGAAAGGACAGGTTCCTCTGGAGACT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0089 a0001c0001t0005g0089	1	272	0.0037	-379	c.-44 others(19): Show c.-44+15800_-44+16178del		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27						chr6	TogoVar
FOXN3_chr14_89151177_89422233	89361340	CACCTCCA others(372): Show CACCTCCAGCACCACCTCCACCACCACCTCCAGCACCACCTCCACCACCA CCACCTCCAGCACCACCTCCACCACCACCACCTCCACCACCACCTCCTAC CACTACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCT CCACCACCACCTCCACCACTACCACCTCCACCACCACCTCCACCACCACC ACCTCCAGCACCACCTCCACCACCACCTCCACCACCACCTCCACCACTAC CACCTCCAGCACTACCTCCACCACCACCACCTCCACCACCACCTCCACCA CCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACC ACCACCTCCACCACTACCACCTCCAGCACT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0062 a0001c0001t0014g0062	1	230	0.0044	-379	c.544 others(19): Show c.544-10911_544-10533del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241806462	TCCCCCCT others(372): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	314	0.0032	-379	c.22 others(11): Show c.2297_*2675del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2176		chr2	TogoVar
GRP_chr18_59215158_59235771	59234064	TATATTAT others(372): Show TATATTATATATACTATATAGTATTTATATATATATTATATATACTATAT AGTATATTATATATATACTATATATACCATGGTATATATAATATAACATA TTATACATACCATGGTATATATAATATAACATATTATACATACCATGGTA TATATAATATAACATATTATACATACCATGGTATATATAATATAACATAT TATACATACCATGGTATATATATAATATAACATATTATACATACCATGGT ATATATATAATATAACATATTATACATACCATGGTATATATATAATATAA CATATTATACATACCATGGTATATATATAATATAACATATTATACATACC ATGGTATATATATAATATAACATATTATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	408	0.0025	-379	c.35 others(11): Show c.3597_*3975del		GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding					3294		chr18	TogoVar
GRTP1_chr13_113319163_113369130	113330095	GGGTGTGT others(372): Show GGGTGTGTGCATGGAAACCCGGGTGTGTGCATGGAAACCCAGGAGTGTGC ATGGAAACTCAGGTGCGTGCATGGGAGCCCAGGTGCGTGGATGGAAACCC AGATGTGTGCATGGGAGCCCAGGTGCGTGGATGGAAACCCGGGTGTGTGC ATGGAAACCCAGGTGTGTGCATGGGAGCCCAGGTGTGTGCGTGGAAACTC AGGTGCGTGCATGGAGCCCAGGTGCGTGGATGGAAACCCAGGTGTGTGCA TGGGAGCCCAGGTGTGTGGAAGGAAACCCAGGTGTGTGCATGGAAGCCCA GGTGTGTGCATGGAAACCCGGGTGTGTGCATGGGAGCCCGGGTGTGTGCA TGGGAGCCCGGGTGTGTGCATAAAAACCCA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18522.hp1 HG02809.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0264 a0001c0001t0002g0028 a0001c0001t0001g0264 a0001c0001t0002g0028	2	288	0.0069	-379	c.563 others(17): Show c.563-4383_563-4005del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	5/7						chr13	TogoVar
LEMD2_chr6_33766213_33794130	33785559	TTAGAGAT others(372): Show TTAGAGATGTGAAGGACCAAGAAATAGAAACCATGGAACTTTTTTCTAAT TAAAAGACAAAACTAACAGCACTGAGAAGTCTTACAGAAAGTTATTTTTT CCTGTTTTTGTTTTAAGTCTTCAAATTCCAGTTTCCCCTCTGGCTGCCTG TGTTTCTGGGCCACTTCCTCTCATCATCAACTACAGTTTTTATGATAGAA GGCAGATTAAACTTACTATGAATCTGTTTTTACAAAACAATTGGGAAGCA AAGATATTTGGTGGATGAATCCAATAAATGGATGTAATAAAACACCCCCA ACTATGACACACCCGAAGCCAAAGAGAAATAAAAGCCGTTATCTGCACCA GGATGCCCCCTCATTTACATGAGTAAGACA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0045 a0001c0001t0009g0045	2	400	0.0050	-379	c.777 others(16): Show c.777+796_778-1133del		LEMD2	ENSG00000161904.13	transcript	ENST00000293760.10	protein_coding	2/8						chr6	TogoVar
NEU4_chr2_241804193_241822413	241806462	TCCCCCCT others(372): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	319	0.0031	-379	c.-28 others(11): Show c.-2815_-2437del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2730		chr2	TogoVar
NPIPB11_chr16_29376310_29411711	29383290	GCCCCCGC others(372): Show GCCCCCGCAGATGCTCGGCAGTTGTCTTGATATTATCATCTGCTGAGGGT GGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAG ATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGATGCTCGGCAGGTG TCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTG AGCTGACGCTCAGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAG CGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGG GTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTG AGATTATCATCCGCTGAGGGTGGAAGCGGC	G G	frameshift_variant frameshift_variant	HIGH	HG03710.hp2 NA18990.hp1 HG03710.hp2 NA18990.hp1	a0113 a0119 a0113 a0119	a0113c0131 a0119c0128 a0113c0131 a0119c0128	a0113c0131t0001 a0119c0128t0001 a0113c0131t0001 a0119c0128t0001	a0113c0131t0001g0075 a0119c0128t0001g0105 a0113c0131t0001g0075 a0119c0128t0001g0105	2	428	0.0047	-379	c.126 others(9): Show c.1263_1641del	p.Pro others(5): Show p.Pro422fs	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4388/6369	1263/3486	421/1161			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21835442	AGGGGAGT others(372): Show AGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGA GGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCAT CTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAA GGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACG CTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTG GAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCT GAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATC ATCTGCTGAGGGTGGAGCTGAGGGTGGAAG	A A	frameshift_variant frameshift_variant	HIGH	NA18999.hp1 NA18999.hp1	a0064 a0064	a0064c0091 a0064c0091	a0064c0091t0001 a0064c0091t0001	a0064c0091t0001g0086 a0064c0091t0001g0086	1	204	0.0049	-379	c.256 others(9): Show c.2566_2944del	p.Leu others(5): Show p.Leu856fs	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	3159/4020	2566/3669	856/1222			chr16	TogoVar
NSUN6_chr10_18540561_18656587	18561064	TATAGAAA others(372): Show TATAGAAAATGGAATGGAATGGAGAATGGAATGGAATGGAAAAAGGAATA GAATATAGAATGCAATGGAGAATGGAATGTAGAATAGAATGGAATGGAAT ACAGTGATAAATAGGCTAGAAGGGAGAATGGAATAGAATGAAATGAAATG GAATGGAGGATGGAATGGAGAATGGAATGGAATGCAGTGGTGAACAGAAT GGAATGGAATGGAGGATGGTATGGAAAATGGAATGGAATGGAGAATGGAA TGGAATGGAGAATGGAATAGAATATGGAATAGAATGGAGAACGGAATGGA GAATACAATGGAATGGAATGCAGTGGTGAATGGAATGGAATGCAGAATGG AATGGAGGATGGTATGGAAAATGGAATGGA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0326 a0001c0001t0015g0326	1	346	0.0029	-379	c.923 others(17): Show c.923-9472_923-9094del		NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10						chr10	TogoVar
OTUD7A_chr15_31470398_31875673	31511247	CATACATA others(372): Show CATACATATGTATATCTATATGTAACACACATACATATGTATATCTATAT GTAACACACATATATATGTATATCTATATGTAACACACATATATATGTAT ATCTATATGTAACACACATATATATGTATATCTATATGTAACACATATAT ATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAACAC ACACATATATGTATATCTATATGTAACACACACATATATGTATATCTATA TGTAACACACACATATATGTATATCTATATGTAACACACACATATATGTA TATCTATATGTAACACACACATATATGTATATCTATATGTAACACACACA TATATGTATATCTATATGTAACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0176	1	244	0.0041	-379	c.894 others(17): Show c.894-7808_894-7430del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
P2RX5_chr17_3668227_3701155	3685659	CCAGCCTG others(372): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAAC ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02109.hp1 HG02559.hp1 others(9): Show HG01099.hp2 HG02109.hp1 HG02559.hp1 HG02647.hp1 HG02738.hp2 HG03688.hp2 HG03710.hp1 HG04184.hp2 NA18982.hp1 NA19011.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0128 a0001c0001t0001g0130 others(9): Show a0001c0001t0001g0036 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0286 a0001c0001t0002g0129 a0002c0002t0001g0162 a0002c0002t0001g0321	12	362	0.0332	-379	c.981 others(17): Show c.981+1974_981+2352del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
SLC12A7_chr5_1045384_1117063	1072630	CGGGCATC others(372): Show CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGC ACACTGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTA TCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGG GCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCA CACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0021 a0001c0006t0021	a0001c0006t0021g0104 a0001c0006t0021g0104	1	118	0.0085	-379	c.224 others(18): Show c.2241+624_2241+1002del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC15A2_chr3_121889401_121949188	121921377	TAGATTTT others(372): Show TAGATTTTTGAGTCAGTCAAGCCTCAGGTCAAAAGTCCAGTTCTGGTATC TTCTAGCAGTGTAACCTTGTACAAGGTGCTTAATTTCCTTAATATTCCTT CATGTATAAAATAGAGATAGTGGTACATATTTTGTCAAGCTAAATCAATT AATGTATGTAAAATGCTTAACAAGTTACATGTGATAAACCTTCAAATAGA TGTTAGGGATAACAATAACCATTAGGATAACAATGAATTTGGGAAGGTCT TTCATGCCAGGAGTTTGGGTCAGGTAAGTATTAATAGATCCTGGAAAGAA ACATTTGGCATCAGATTAAAGAAGGAAGAGACTAGGGAATGAGAAACTAG TTGGTGGCCATTTTAATAATCCAAAGTACA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	338	0.0030	-379	c.698 others(15): Show c.698-840_698-462del		SLC15A2	ENSG00000163406.11	transcript	ENST00000489711.6	protein_coding	7/21					INFO_REALIGN_3_PRIME	chr3	TogoVar
SRL_chr16_4184374_4247080	4201466	AGGGTTCT others(372): Show AGGGTTCTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGGG ATCTGCTCGCCTCAGCCTCCCAAACTGCTGGGACTATAGGTGTGAGCCAC TGTGCCCGGCCATCGGATTGTTTTTAAAAGTGCTATGAGCCATCACGCTG GGCCCAATTTTTGTGTGTGTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTG TTTGTTTTGAGATGGAGTCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGG CACAATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTG TTGCCTCACCCTCCTGAGTAGCTAGGATTACAGCCGCCAGCCACTAGGCA GGGCTAATTTTTGTATTTTTAATAGAAACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp1 others(51): Show HG00099.hp1 HG00140.hp2 HG00639.hp1 HG00735.hp1 HG01099.hp1 HG01192.hp1 HG01346.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02486.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(8): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0003t0009 a0001c0003t0027 a0001c0006t0011 a0001c0007t0030 a0001c0007t0031 a0001c0010t0004	a0001c0001t0004g0047 a0001c0001t0004g0053 a0001c0001t0004g0055 others(50): Show a0001c0001t0004g0047 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0067 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0086 a0001c0001t0004g0088 a0001c0001t0004g0113 a0001c0001t0004g0143 a0001c0001t0004g0152 a0001c0001t0004g0159 a0001c0001t0004g0176 a0001c0001t0004g0212 a0001c0001t0004g0222 a0001c0001t0004g0228 a0001c0001t0004g0233 a0001c0001t0004g0240 a0001c0001t0004g0244 a0001c0001t0004g0266 a0001c0001t0004g0269 a0001c0001t0004g0320 a0001c0001t0004g0322 a0001c0001t0004g0327 a0001c0001t0006g0045 a0001c0001t0006g0272 a0001c0001t0007g0002 a0001c0001t0007g0006 a0001c0001t0007g0013 a0001c0001t0007g0021 a0001c0001t0007g0027 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0001t0007g0057 a0001c0001t0007g0059 a0001c0001t0010g0016 a0001c0001t0010g0056 a0001c0001t0010g0060 a0001c0001t0010g0078 a0001c0001t0010g0294 a0001c0001t0015g0066 a0001c0001t0015g0107 a0001c0001t0015g0275 a0001c0003t0009g0069 a0001c0003t0009g0070 a0001c0003t0009g0071 a0001c0003t0009g0316 a0001c0003t0027g0329 a0001c0006t0011g0292 a0001c0006t0011g0296 a0001c0007t0030g0007 a0001c0007t0031g0087 a0001c0010t0004g0260	54	358	0.1508	-379	c.259 others(17): Show c.259+1321_259+1699del		SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	3/5						chr16	TogoVar
USP48_chr1_21673298_21788149	21760438	GGGCACAG others(372): Show GGGCACAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCCAGGTG GGCGGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAA ACCCCATCTCTACTAAAAATACAAAAATTCGCCAGGAGTGGTGGCGGGAG CCTGTAATCCCAGCTACCCAGGAGGCTGAGGCAGGAGAAATCACTTGAAA CTGGAAGGCGGGAGGGTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAG CCTGGGCAACAAGAACAAAACTCTATCTCAAAAAAAATAAAAATAAAAAT AAATTTAAAAAAAGGTAGGGAAAGCTTTTAATGTTGTGATATATAACGAT ATCATTAGTTGAAAAAAGGAAGGTGGGCCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	364	0.0028	-379	c.135 others(17): Show c.135-3034_135-2656del		USP48	ENSG00000090686.16	transcript	ENST00000308271.14	protein_coding	1/26						chr1	TogoVar
ADAM18_chr8_39579568_39735065	39654134	CCACTGAC others(371): Show CCACTGACAGGATTTCATTCCTTTTTTTTTTTTTTTTTTTTGGAGACAGA GTCTCGCTGAGTCACCAGGGCTGGAGTGCAGTGGCGCGATCTCAGCTCAC TGCAAGCTCCGCCTTCCAGGTTCACGCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCGCCGCACCTGGCTGATTTCATTCTTTT TATGGCTGAATAATATTCTATTGTGTATATAAACCACGTTTTCTTTTTCC ATTCATTTGTTGATGGGCTCAGGTTGATTACACACCTTGGCTATTGTAAA TAGTGCTTGCTGCAATAGACATGAGAGTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02572.hp2 others(3): Show HG02280.hp2 HG02451.hp1 HG02572.hp2 HG03098.hp2 NA20129.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0004c0005t0001 a0001c0002t0001 a0004c0005t0001	a0001c0002t0001g0292 a0004c0005t0001g0290 a0004c0005t0001g0294 others(3): Show a0001c0002t0001g0292 a0004c0005t0001g0290 a0004c0005t0001g0294 a0004c0005t0001g0309 a0004c0005t0001g0316 a0004c0005t0001g0320	6	347	0.0173	-378	c.123 others(19): Show c.1230+5610_1230+5987del		ADAM18	ENSG00000168619.16	transcript	ENST00000265707.10	protein_coding	12/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADARB2_chr10_1172313_1742525	1238019	CCCTCTCC others(371): Show CCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC TGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTC CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGT TTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTT ACTCCCTGCATCCCGGTGTTTACTCCCCT	C C	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	106	0.0094	-378	c.136 others(19): Show c.1361+3734_1361+4111del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1700385	TCAATCCC others(371): Show TCAATCCCACTCCACCGGGAGACCAGGCGCTAGTCAATACACGCAATCCC ACTCCACCAGGAGACCGGGCACTCGCCAACACACACAATCCCACTCCACC GGGAGACCAGGCGCTCGTCAATACACTCAATCCCACTCCACCGGGAGACC AGGCGCTCGCCAATACACTCAATCCCACTCCACCGGGAGACCAGGCACTC GCCAACACACACAATCCCACTCCACCGGGAGACCAGACGCTAGTCAATAC ACGCAATCCCACTCCACCGGGAGACCGGGCGCTCGCCAATACATGCAATC CCACTCCACCGGGAGACCAGGCGCTAGTCAATACACGCAATCCCACTCCA CCAGGAGACCGGGCACTCGCCAACACACA	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	106	0.0094	-378	c.100 others(19): Show c.100+36288_100+36665del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111261	AGGCACCT others(371): Show AGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCCCCCGGGAACCAT CCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTA ATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACC AGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACC TGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACC ACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACAC CTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCC TAATCCCACCAGACAACCTGCCCACCACG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	368	0.0027	-378	c.401 others(17): Show c.401+8421_401+8798del		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111597	GGACACCT others(371): Show GGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCT CCCTCCTAATCCCACCAGACAACCTGCCCCCCCGGGAACCATCCCTCCTA ATCCCACCAGACCACCTGCCCGCCACGGGCACCTCCCTCCTAATCCCACC AGACAACCTGCCCGCCACAGACACCTCCCTCCTAATCCCTCCAGACCACC TGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACC ACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACAC CTCCCTCCTAATGCCTCCAGACCACCTGCCCGCCGTGAGCACCTCCCTCC TAATCCCTCCAGACCACCTGCCCACCACA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0172 a0001c0002t0006g0172	1	368	0.0027	-378	c.401 others(17): Show c.401+8757_401+9134del		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111618	ACCAGACA others(371): Show ACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACA ACCTGCCCCCCCGGGAACCATCCCTCCTAATCCCACCAGACCACCTGCCC GCCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCGCCACAGA CACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCC TCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATC CCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATGCCTCCAGA CCACCTGCCCGCCGTGAGCACCTCCCTCCTAATCCCTCCAGACCACCTGC CCACCACAGGCACCTCCCTCCTAATGCCT	A A	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	368	0.0027	-378	c.401 others(17): Show c.401+8783_401+9160del		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111660	ACCAGACA others(371): Show ACCAGACAACCTGCCCCCCCGGGAACCATCCCTCCTAATCCCACCAGACC ACCTGCCCGCCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCC GCCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCC TCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATG CCTCCAGACCACCTGCCCGCCGTGAGCACCTCCCTCCTAATCCCTCCAGA CCACCTGCCCACCACAGGCACCTCCCTCCTAATGCCTCCAGACCACCTGC CCACCACAGACACCTCCCTCCTAATGCCT	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	368	0.0027	-378	c.401 others(17): Show c.401+8825_401+9202del		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 10000 hits)