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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
RUNDC3B_chr7_87623398_87837296	87626368	GTGTCATA others(340): Show GTGTCATATGTATGTGTCATATATATGTGTCATATGTATGTGTCATATAT ATGTGTCATATGTATGTGTCATATATGTGTCATATATATGTGTCATATAT GTGTCATATATATGTGTCATATATATGTGTCATATATGTGTCATATATAT GTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATATAT GTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATAT ATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18992.hp2 NA18990.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0051 a0001c0001t0014 a0001c0001t0051	a0001c0001t0014g0153 a0001c0001t0051g0156 a0001c0001t0014g0153 a0001c0001t0051g0156	2	202	0.0099	-347	c.-24 others(11): Show c.-2455_-2109del		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding					2029		chr7	TogoVar
SLC12A7_chr5_1045384_1117063	1072594	CAGCCCCC others(340): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAG CCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCA GTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTG	C C	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0047 a0001c0013t0003g0047	1	118	0.0085	-347	c.224 others(18): Show c.2241+692_2241+1038del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SLC25A26_chr3_66216001_66383923	66363926	TGACACAT others(340): Show TGACACATAGTCATTAGCTGTGTTAAATAAGTAGGTGGTCTTGATTCATT TTCCAGAGGTCAGGAGTCATTATTCCCCAGTCCCTAAGAGAGATGTGCAT TTTTGTAGACACTCTCCTGGGCCCTGGGGACAAAATGAGCGCATTATGGA AATTAAGTCATCCTGGATAAGTAAGGCTACTTTTTAAAGTTAGCAATACT ATAAAACTTCCATGTGTTGAAATAAGAACATATTCTCTGGTCCTATTCCT TGAATACCCAATTCAAAGATTTGCTTGCAGAGACATTGTTACTATTAAGG AAATTTGCATTAATTACAGTTTCCTTTTCAGAATAATACTCTGTAATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0111 a0004c0004t0001g0111	1	298	0.0034	-347	c.568 others(17): Show c.568+1003_568+1349del		SLC25A26	ENSG00000144741.19	transcript	ENST00000354883.11	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
SORCS2_chr4_7187538_7747827	7441792	CCCCCTCC others(340): Show CCCCCTCCCCCAGCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGATC ACCCTCCACCCCCTCCCCCAGCCCAGATCACCCTCCACCCCCTCCCCCAG CCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGATCACCCTCCACCCCC TCCCCCAGCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGATCACCCT CCACCTCCTCTCACAGCCCAGGTCACCATCCACCCCCTCCCCCAGCCCAG ATCACCCTCCATCCCCTCCCCCAGCCCAGATCACCCTCCACCCCCTCCTT CAGCCCAGATCACCCTCCACCCCCTCCCCCAGCCCAGATCACCCTCCA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0002 a0011c0027t0002	a0011c0027t0002g0116 a0011c0027t0002g0116	1	168	0.0060	-347	c.548 others(19): Show c.548+45442_548+45788del		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
TRNAU1AP_chr1_28548085_28583545	28579555	ACAAATGA others(340): Show ACAAATGAGGACAGCTTTACATGTAACATGAATCTAAAAGAAAAAAACAC CACCCTTAATTAAGAGGCAAGGAAGCTATGACAGATCCCTCCCAAATGCA GTAATAGGTCAGCTATTACTATACCAACCTCCAGAGCTTCACACGCATCC TTCCCTTAGCCTAAGATTATACTTCATTTTACAATTTCAGAGATCCAACC ATCTCTGAAACCTGTCTGAAACTAGCCCACATGCCATATACCAGATTACA ACATTTAGGCCAGCTTCACTATTACTTTTCCTCCTTTTACGACCACCAAG ACCAGTGTTCAGATCCGATGGGAAAGGGATCAGGAGGATTAAGCTGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	296	0.0034	-347	c.19 others(11): Show c.1920_*2266del		TRNAU1AP	ENSG00000180098.9	transcript	ENST00000373830.4	protein_coding					1011		chr1	TogoVar
UNKL_chr16_1358205_1419704	1397338	CCCCGCCC others(340): Show CCCCGCCCCCCACCCCCGTGCTTCACGCTGGGGCAGGGCGTGGACCTGGG GATGAGGAGGTGTCAGGAGGACACAGAGGACTTGGCTCCCTGCCCCCCAC CCCCGTGCTTCACGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGT CAGGAGGACACAGAGGACTTGGCTCCCCCACCCCGACCCCCGTGCTTCAC GCTGGGGCAGGGCATGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAG AGGACTTGGCTCCCCCACCCCGACCCCCGTGCTTCACGCTGGGGCAGGGC GTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0042 a0001c0001t0064g0042	1	322	0.0031	-347	c.735 others(14): Show c.735-390_735-44del		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	5/14						chr16	TogoVar
AFDN_chr6_167821911_167977023	167940993	ATGTGTGG others(339): Show ATGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCA CAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAA ACCATCCACAGGAGAGATGTGGACAGACACAGAGGGATGTAGGGGTGAGG GTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAG GGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAG GGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGATGTGGACAGAC ACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01167.hp1 HG02109.hp1 others(8): Show HG00140.hp2 HG01167.hp1 HG02109.hp1 HG02145.hp1 HG02486.hp1 HG02572.hp1 HG02723.hp2 HG03579.hp1 HG03669.hp2 HG04199.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 a0001c0002 a0001c0004 a0001c0007	a0001c0002t0001 a0001c0004t0001 a0001c0004t0010 others(3): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0010 a0001c0004t0018 a0001c0004t0019 a0001c0007t0007	a0001c0002t0001g0122 a0001c0002t0001g0150 a0001c0004t0001g0092 others(8): Show a0001c0002t0001g0122 a0001c0002t0001g0150 a0001c0004t0001g0092 a0001c0004t0001g0120 a0001c0004t0001g0121 a0001c0004t0001g0202 a0001c0004t0001g0231 a0001c0004t0010g0313 a0001c0004t0018g0093 a0001c0004t0019g0118 a0001c0007t0007g0213	11	326	0.0337	-346	c.310 others(19): Show c.3100-2131_3100-1786del		AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33					INFO_REALIGN_3_PRIME	chr6	TogoVar
ARHGAP35_chr19_46855997_47010077	46879944	GGCATGGT others(339): Show GGCATGGTGGTATATGCCTGTAATCCCAGAAACTTGGGAGGTTGAGGCAT GAGAATTGCTTGAAACCTGGAGGCGGAGGTTGCAGTGAGCTGAGACTGTG CCACTGCACTCCAGCCTGGGTGATGAGGCAAGACAATGTCTCAAAAAATA AATAAATAAATAAATAAATAAATAAATCACTTTCTTTGCTCACCAATAAG CAATTCCTGGCTGGGCGTGTGGCTCACGCCTGTAATCCCAACACTTCGGG AGGCTGAGGCGGGTGAGTCACCTGAGGTCAGGAGTTCGACACCAGCCTGG CCAACATGGAGAAACCCCCTCTCTACTAAAAATACAAAATTTGCCGA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	298	0.0034	-346	c.-18 others(21): Show c.-189+18746_-189+19091del		ARHGAP35	ENSG00000160007.20	transcript	ENST00000672722.1	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
CANT1_chr17_78986716_79014764	79004227	AGAGTTAG others(339): Show AGAGTTAGGGAGAGGGGAGCTAGGGAGAGGACAGTTAGGGAGAGGAGTTA GGGAGGGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGAG GGAGGTTAGGGAGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAGGGGGGTT AGGGAGAAGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGG GGGGAGTTAGGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTA GGGAGAGGGGAGTTAGGGAGGGGGGAGTTAGGGAGAGGGGGGTTAGGGAG AAGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGG	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19082.hp1 NA19087.hp1 NA18994.hp1 NA19082.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082	3	394	0.0076	-346	c.-14 others(19): Show c.-147+5091_-147+5436del		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
ERBIN_chr5_65921575_66087546	65977163	CTCCCGGA others(339): Show CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTC CCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGAGGTGGCTGCCGGGCGGAGATGCTCCTCACTTCCCAGACGG GGTGGCTGCTGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCC GGGCGGAGGGGCTCCTCACTTCTCGGACGGGGTGGTTGCCAGGCAGAGGG TCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACA	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	306	0.0033	-346	c.-57 others(19): Show c.-57-11455_-57-11110del		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1121661	CTCTATCT others(339): Show CTCTATCTCTATCTCTATCTATCTCTATCTCTATCTCTATCTCTATCTGT GTCTCTATCTCTATCTCTATCTCTATCTCTATCTATCTCTATCTCTATCT CTATCTATCTCTATCTCTATCTATCTCTATCTCTATCTCTATCTCTATCT CTATCTCTATCTGTGTCTCTATCTCTATCTATCTCTATCTCTATCTCTAT CTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCT CTATCTCTATCTCTATCTGTGTCTCTATCTATCTCTATCTCTATCTCTAT CTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0141 a0001c0001t0058g0141	1	162	0.0062	-346	c.156 others(19): Show c.1569+5648_1569+5993del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
LHPP_chr10_124456823_124619141	124507331	GGGGGTAG others(339): Show GGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGG GGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGG AGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG ATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03831.hp1 HG06807.hp2 HG03130.hp2 HG03831.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0138 a0001c0001t0001g0249 a0001c0001t0001g0088 a0001c0001t0001g0138 a0001c0001t0001g0249	3	260	0.0115	-346	c.624 others(17): Show c.624+9207_625-9500del		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
MTNR1A_chr4_186528655_186560567	186546936	ACCACACC others(339): Show ACCACACCCTGTTCCTGGGACACACCGTCCACACCACACCCTGTTCCTGG GACACACCGTCCACACCACACCCTGTTCCTGGGACACACCGTCCACACCA CACCCTGTTCGTGGGACACACCGTCCACACCACACCCTGTTCGTGGGACA CACCGTCCTCACACCCTGTTCCTGGGACACACCGTCCTCACACCCTGTTC CTGGGACACACCGTCCTCCTCACACCCTGTTCCTGGGACACACCATCCAC ACCACACCCTGTTCATGGGACACACCGTCCACACCACACCCTGTTCATGG GACACACCGTCCACACCACACCCTGTTCATGGGACACACCGTCCACG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03453.hp2 HG03471.hp1 others(1): Show HG03098.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0030 a0001c0001t0001g0072 a0001c0001t0001g0079	4	396	0.0101	-346	c.184 others(17): Show c.184+7900_184+8245del		MTNR1A	ENSG00000168412.7	transcript	ENST00000307161.5	protein_coding	1/1						chr4	TogoVar
NAF1_chr4_163123669_163171890	163155838	CCAGAAAA others(339): Show CCAGAAAACATACTGTGGGACATTACCACTCTGGCAGTGCACAGAAGATA CAAAGAATTAGATGTAAAAGGCATACTAATAAACTAAAAAAATTGAAGGT AGAGGTGATAGGAAAGGCCTGGGATAGAAAGACCTTCTTCATCACACATA AGCAACAACCAAGGGTACTAAAAATAAAAGACAAGGTGATTTAGTGCAGA TTAGAAAGATTAAAGTATCTGCCTGGATACCAACAACCCCTGTTAAAAGA ATGATGAGTAGATAGGAAAGACTTTTTGTTTTATTTACTCAATATTAGAT ACAAATTTAAATTTAATTAAAATTAAATAAAATTTAAAATTTGGTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(139): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18984.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19070.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0006 a0009 others(1): Show a0001 a0006 a0009 a0010	a0001c0001 a0006c0012 a0009c0010 others(1): Show a0001c0001 a0006c0012 a0009c0010 a0010c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0006c0012t0003 a0009c0010t0001 a0010c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(70): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0003g0034 a0001c0001t0003g0150 a0001c0001t0004g0048 a0001c0001t0005g0049 a0001c0001t0006g0109 a0006c0012t0003g0154 a0009c0010t0001g0111 a0010c0007t0001g0061	142	344	0.4128	-346	c.541 others(17): Show c.541-7750_541-7405del		NAF1	ENSG00000145414.9	transcript	ENST00000274054.3	protein_coding	2/7						chr4	TogoVar
NCAPG2_chr7_158626169_158709804	158667609	CCTTACCT others(339): Show CCTTACCTACCCTGTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTC CGCCTTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTG GGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCGCCCTCCCTTACC CACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCC CTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGT CCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCAC TACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	378	0.0027	-346	c.148 others(19): Show c.1480-3205_1480-2860del		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
OTUD7A_chr15_31470398_31875673	31510534	TACATATG others(339): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATATATGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0100 a0001c0001t0004g0100	1	244	0.0041	-346	c.894 others(17): Show c.894-7062_894-6717del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511336	TATATATG others(339): Show TATATATGTATATCTATATGTAACACACATATATATGTATATCTATATGT AACACATATATATGTATATCTATATGTAACACACACATATATGTATATCT ATATGTAACACACACATATATGTATATCTATATGTAACACACACATATAT GTATATCTATATGTAACACACACATATATGTATATCTATATGTAACACAC ACATATATGTATATCTATATGTAACACACACATATATGTATATCTATATG TAACACACACATATATGTATATCTATATGTAACACACACATATATGTATA TCTATATGTAACACACACATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01243.hp2 HG02071.hp2 others(12): Show HG00621.hp1 HG01243.hp2 HG02071.hp2 HG02602.hp2 HG03942.hp1 NA18939.hp1 NA18950.hp1 NA18960.hp1 NA18981.hp1 NA18993.hp1 NA19000.hp1 NA19005.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0016 a0002c0008 a0001c0002 a0001c0016 a0002c0008	a0001c0002t0001 a0001c0002t0036 a0001c0002t0039 others(3): Show a0001c0002t0001 a0001c0002t0036 a0001c0002t0039 a0001c0002t0053 a0001c0016t0001 a0002c0008t0009	a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0046 others(12): Show a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0046 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0060 a0001c0002t0001g0156 a0001c0002t0001g0175 a0001c0002t0001g0197 a0001c0002t0001g0199 a0001c0002t0036g0119 a0001c0002t0039g0198 a0001c0002t0053g0226 a0001c0016t0001g0041 a0002c0008t0009g0084	15	244	0.0615	-346	c.894 others(17): Show c.894-7864_894-7519del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
PDZRN4_chr12_41183320_41579745	41281062	CCAGGTAA others(339): Show CCAGGTAAACAGGGTCTGGAGTGGACCCACAGCAAACTCCAGCAGACCTG CAGGAGAAGGGCCTGACTGTTAGAAGGAAGACTAACAAACAGAAAGCAGT ATCATCAACATCAACAAAACAGATGACCACGCAAAAACTCCATCCAAAGA TCACCAACAGCAAAGATCAAAGGTAGATAAATCCACAAAGATGAGGAAAA ACCAGTGCAAATAGGCTGAAGATTTCAAAAACCAGAATGCCTCTTCTACT CCAAAGGATCACAACTCCTCGCCAGCAAGGGAACAAAACTGGACAGAGAA TGAGTTTGATGAATTGACAGAAGTAGGCTTCAGAAGGTGGGTAATAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02148.hp1 HG00438.hp2 HG02148.hp1	a0007 a0007	a0007c0018 a0007c0045 a0007c0018 a0007c0045	a0007c0018t0001 a0007c0045t0001 a0007c0018t0001 a0007c0045t0001	a0007c0018t0001g0126 a0007c0045t0001g0125 a0007c0018t0001g0126 a0007c0045t0001g0125	2	206	0.0097	-346	c.843 others(19): Show c.843+86877_843+87222del		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
RPS6KA5_chr14_90842861_91065641	90991332	CGTTCTTA others(339): Show CGTTCTTAGGCCCAGAAAAGGTAAATCCAAGGATCACTTTAAGGGGAAAA TTATAGGACTTTGTGAGAAAATAGAAGTAAAGAGGCTGGGCTGGGCGCAG CAGCTGATACCTGTAATCCCAACACTTTGGAAGGCCGAGGCAGGTGGGTC ACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTG TCTCTACTAAAAATACAAAAATTATCCGGGCATGGTGGTGCACATTTGTA ATCCCAGTTACTCGGGAGGCTGAGGCAGGAAAATAGCTTGAACTTGGGAG GCAGAGGTTGCAGTGAGCTGAGATCACACCACTGAACTTCAGCCTGG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0124 a0002c0007t0124	a0002c0007t0124g0204 a0002c0007t0124g0204	1	306	0.0033	-346	c.175 others(17): Show c.175+9410_175+9755del		RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	2/16						chr14	TogoVar
SHTN1_chr10_116876477_117010187	116963025	AATAATAA others(339): Show AATAATAAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTGGCCCAGGCTGGAGT GCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA TCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0007 a0001c0001t0068g0007	1	292	0.0034	-346	c.173 others(17): Show c.173-3141_173-2796del		SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	3/16						chr10	TogoVar
SKI_chr1_2223319_2315213	2281102	CGGCGGAG others(339): Show CGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTC ATAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp2 NA19043.hp2 others(1): Show HG02723.hp2 HG02976.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0011 a0001c0001t0016 a0001c0012t0011 a0001c0001t0011 a0001c0001t0016 a0001c0012t0011	a0001c0001t0011g0003 a0001c0001t0016g0267 a0001c0012t0011g0266 a0001c0001t0011g0003 a0001c0001t0016g0267 a0001c0012t0011g0266	4	330	0.0121	-346	c.970 others(19): Show c.970-21852_970-21507del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
TPO_chr2_1408463_1548673	1536383	TCCCCGCC others(339): Show TCCCCGCCACTCTGTGAAACCTCCCCCATCCCTTCCAGTTTGTGCACCCC CCCAAATCCCCCCACTATGTGACACCTCCTCAAATCCCCCCACTGTGAGC AACCTCCTGAAATCCCTCTCACTGCGTGCAACTTCCTCAAATTCCTCCCC CACTCTGAGTAGCCTCCTCAAATCCCCCCCAGTGTGTGCAACGTCCCCAA ATCGCCCCACTGTGTGCATTCTCCTCAAATGCCCCTAGCTTTGTGAAACC TCCCCAAATCCCCCCCCCCACTGTGTGCAACCTCCCCAGATCTCCTTTCT GTGCAACCTCCATAAATCCAACCAAATGTATGCAACCTCCTCAAATC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG02080.hp2 others(12): Show HG00408.hp2 HG00423.hp1 HG02080.hp2 HG03654.hp2 HG04204.hp2 NA18612.hp2 NA18985.hp1 NA18998.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp2 NA19088.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0019	a0001c0001 a0002c0015 a0003c0003 others(3): Show a0001c0001 a0002c0015 a0003c0003 a0003c0006 a0004c0005 a0019c0024	a0001c0001t0005 a0002c0015t0004 a0003c0003t0004 others(5): Show a0001c0001t0005 a0002c0015t0004 a0003c0003t0004 a0003c0003t0005 a0003c0006t0004 a0003c0006t0011 a0004c0005t0005 a0019c0024t0005	a0001c0001t0005g0073 a0002c0015t0004g0112 a0003c0003t0004g0016 others(11): Show a0001c0001t0005g0073 a0002c0015t0004g0112 a0003c0003t0004g0016 a0003c0003t0004g0035 a0003c0003t0004g0051 a0003c0003t0005g0001 a0003c0003t0005g0043 a0003c0006t0004g0096 a0003c0006t0004g0097 a0003c0006t0004g0100 a0003c0006t0004g0103 a0003c0006t0011g0085 a0004c0005t0005g0071 a0019c0024t0005g0009	15	130	0.1154	-346	c.261 others(19): Show c.2619-4207_2619-3862del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR7_chr18_56646359_57034792	57024553	GAGCTATG others(339): Show GAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCA GGCAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATT TCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGATAG TTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGG GATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCT ATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTA CAGGATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19043.hp1 HG02976.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0003 a0001c0005t0003 a0001c0003t0003 a0001c0005t0003	a0001c0003t0003g0095 a0001c0005t0003g0004 a0001c0003t0003g0095 a0001c0005t0003g0004	2	144	0.0139	-346	c.427 others(19): Show c.4270-2449_4270-2104del		WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD7_chr7_118219704_118247732	118246380	TGACCTTA others(338): Show TGACCTTATGTTGTATCACCCCTAAGACTTTTGTCTGTATTTTCCTCGAA CAAGAAGATTCTTCTGCATAATCACAATATAACCATCTAAATTGGGGATG GTTATAAACTCTTAATCTAATCACATCTTTCCATCATTTTTGCCTTTTAA AATAACATATTCCCAGGTTCTGGGCATTAGGATATGGATATCTTTGACAG GCCATTATTCTGCTACCCACAGGTGCAGTGGAGTGGATTGGAGATTACTT ACTGATTTTATTTTAAATTTTGAAACAATCTTAAACTTAGAGAAAAATTG TCTTCTCAGTACAATTTTTTTTTTCTGAACCATTGTGTGAGTTGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	406	0.0025	-345	c.40 others(11): Show c.4070_*4414del		ANKRD7	ENSG00000106013.15	transcript	ENST00000265224.9	protein_coding					3649		chr7	TogoVar
CD5_chr11_61097489_61132852	61101055	ATCAACAT others(338): Show ATCAACATGGAGATCACATTCGCACACATCAACATGGAGATCACACACAC ACAACATGGAGATCACACACACACATCAACATGGAGATTACACACACATC AACATGGAGATCACACACTCATCCACATGGAGATCACACACACACATCAA CATGGAGATCACACACACATCAACATGGAGATCACATTCACACACATCAA CATGGAGATCACAAACACACATCAACATGGAGATCACACACACACATCAA CATGGAGATTACACACACATCAACATGGAGATCACATTCACACACATCAA CATGGAGATCACACACACACATCAACATGGAGATCACACACACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0073 a0012c0016t0001g0073	1	244	0.0041	-345	c.-15 others(11): Show c.-1505_-1161del		CD5	ENSG00000110448.11	transcript	ENST00000347785.8	protein_coding					1433		chr11	TogoVar
CEP112_chr17_65630537_66197133	66141106	ATTTGTTA others(338): Show ATTTGTTATAGCCATCTTTTTATTTTTTCCTTTGTTTTCTCAGAAAATTT TTTGAGCTGGTTTTCTAATTCACTGATTTGATTTTCTGTAATATTTAATC TGCTGTTTTCTGTAATATTTAATCTGCTGTTTTCTGTTTCCATTGTGATT TTCAGATTTAGTAATCATGTTTTTCAATTGTAAGCACATTTTTATGATCA GACTGTTCATCCCCTTTTCACATATGAAATGTCTACTTGAATCATATTGA AAAAAATTAAATAAACATTTTAGAAATTTCTCTTTTTAAAATAGTTTTTT TCTTTTATTGTGGTAAAAATACACAACATGAGATCTACTTAAGATT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01891.hp2 HG02257.hp2 others(1): Show HG01346.hp2 HG01891.hp2 HG02257.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0007 others(1): Show a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0007 a0002c0001t0001g0094	4	112	0.0357	-345	c.471 others(17): Show c.471-8688_471-8344del		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	4/26						chr17	TogoVar
CHRNB3_chr8_42692366_42742407	42730750	TTAAAAAG others(338): Show TTAAAAAGTGAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAATAAATAAATAAATAAATAAATAAATAAATAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02055.hp1 HG02258.hp1 others(11): Show HG01074.hp2 HG02055.hp1 HG02258.hp1 HG02451.hp2 HG02622.hp2 HG02698.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03831.hp2 NA19030.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0002 a0001c0003 a0001c0004 a0002c0002	a0001c0003t0001 a0001c0004t0007 a0002c0002t0004 a0001c0003t0001 a0001c0004t0007 a0002c0002t0004	a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 others(11): Show a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0004t0007g0025 a0001c0004t0007g0026 a0002c0002t0004g0119 a0002c0002t0004g0120 a0002c0002t0004g0121 a0002c0002t0004g0122 a0002c0002t0004g0123 a0002c0002t0004g0124 a0002c0002t0004g0125 a0002c0002t0004g0126 a0002c0002t0004g0138	14	282	0.0497	-345	c.359 others(14): Show c.359+66_359+410del		CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1967908	GCTCCTCC others(338): Show GCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCGACCACCCTTCAGTT CTGCAGGTGGGGCTCCTCCCTCCTCCCCAGGCTGCCCCCGACCACCCTTC AGTTCTGCAGGTGGGGGCTCCTCCCTCCTCCCCAGGCTGCCCCCACCACC CTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTCCTCCCCAGGCTGC CCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCCAGGCTGTCCC TGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTCCTCCC CAGGCTGCCCCAGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03486.hp2 HG02818.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0317 a0001c0001t0001g0319	2	382	0.0052	-345	c.-26 others(19): Show c.-265-1591_-265-1247del		CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
DCC_chr18_52335197_53540899	53085980	CTTCTTCT others(338): Show CTTCTTCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCTTCCTCTTCTCTTCCTCTTCTCTTCT TCTTCTTTTCTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCC GTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTC TTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0010 a0003c0006t0010	a0003c0006t0010g0111 a0003c0006t0010g0111	1	114	0.0088	-345	c.126 others(21): Show c.1261+19825_1261+20169del		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DGKI_chr7_137376037_137851974	137523825	ACTCACAA others(338): Show ACTCACAATATCATTTACAGGTAGGGAAACTGAAGTTCAGAAAGGTGAAG TGATTTTAAGGTCACATAGCCACTAAGTAGCAGTGCTAAACGCAAAGCCT TGGACCCTTCACTCATCAGTTTCATGTTCTTTCTCTGCTCCTCTGAGGAG TTCAGACTCTCTTGTCAATGGATAAATACCAAGAATCCCATGGATTTGAC GGCAAAACTATAAAGTCTGGATTGGCAGAGTCTGATGATCTCTGTGTGCT GCTCAGATTTCTTTCTTTATCAATAAACAATCATCAGGCGGGGTGGTTAA GTAAACCAGAGAACACTGGGCAGAGAGTACAAATGAATGTGTAGGT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02896.hp2 HG02897.hp2 others(2): Show HG02630.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0011 a0001c0006 a0001c0011	a0001c0006t0008 a0001c0011t0001 a0001c0006t0008 a0001c0011t0001	a0001c0006t0008g0030 a0001c0006t0008g0043 a0001c0006t0008g0044 others(2): Show a0001c0006t0008g0030 a0001c0006t0008g0043 a0001c0006t0008g0044 a0001c0011t0001g0002 a0001c0011t0001g0031	5	94	0.0532	-345	c.214 others(19): Show c.2148-2204_2148-1860del		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	20/32						chr7	TogoVar
DKK2_chr4_106916802_107041313	106919465	AAGTGAGC others(338): Show AAGTGAGCTGCATCAGAGATTGTTGTCAAACTAATAAATCTTCTGAGGTT CTATCGAACCAGCAGTCATTCTAGTGGGAAACTGCTCAGGCCATAGCTGC TGAAGAAGTTCTAGCTCACCCAGGCATCTGGAAACCCTATGGCTGAGACA GAGCAAAATATGGAATAAGGAAGAAAAATTTTAGCTATTAACCTGAAGAT TTTAAACTTTGATGTCTTTGGGCTCTTTATCATAAACAGGAAGATAATGA TTGCAGACTTTAATTCTTTTGAACTTCAAGTTATTTTGACTTTAACATGC AAGAGGATTTAATTTTTGTCCTTTACTTTCTCCCTAAGAAATTTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01167.hp2 others(5): Show HG00738.hp1 HG01074.hp1 HG01167.hp2 HG01516.hp1 HG02004.hp1 HG02559.hp1 HG03486.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0020 a0001c0001t0006 a0001c0001t0015 a0001c0001t0020	a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0090 others(5): Show a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0015g0006 a0001c0001t0020g0103	8	218	0.0367	-345	c.41 others(11): Show c.4144_*4488del		DKK2	ENSG00000155011.9	transcript	ENST00000285311.8	protein_coding					2336		chr4	TogoVar
FABP2_chr4_119312250_119327138	119323403	TAAAAAAG others(338): Show TAAAAAAGAAAAAGAGGCCGGGCGCGGTGGCTCGCGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAAT TAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAACAAAAAAACAAAAAAACAAAAAAACAAAAAACAAAAAAAAAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(145): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00597.hp2 HG00673.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0011 others(18): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0004g0008 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0007g0022 a0001c0001t0007g0045 a0001c0001t0009g0020 a0001c0001t0010g0017 a0001c0001t0011g0025 a0001c0001t0012g0024 a0001c0001t0017g0042 a0001c0001t0018g0043	148	420	0.3524	-345	c.-16 others(11): Show c.-1646_-1302del		FABP2	ENSG00000145384.4	transcript	ENST00000274024.4	protein_coding					1266		chr4	TogoVar
FOXN3_chr14_89151177_89422233	89361826	CCACCTCC others(338): Show CCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCC AGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCAC CTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCA CCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACT ACCACCTCCAGCACCACCACCTCCACCACCACCTCCACCACTACCACCTC CAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCT CCACCACTACCACCTCCAGCACCACCTCCACCACCACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0189 a0001c0001t0014g0189	1	230	0.0044	-345	c.544 others(19): Show c.544-11363_544-11019del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXQ1_chr6_1307098_1319758	1319413	GCCTGACC others(338): Show GCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGC CGGGCAGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGG CGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGG AGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGC ACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGA GTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTA CTAAAAATACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0000 a0002c0005t0001g0000	1	406	0.0025	-345	c.54 others(11): Show c.5498_*5842del		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					4656		chr6	TogoVar
GABRB3_chr15_26538552_26778066	26716779	AAATGACA others(338): Show AAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTG AGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCAC AGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCT CCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAATGACAGCCCAG CTCTGGGGACATCCACCCAATGACAGACAGCCCAGCTCTTGGGACCTCCA CCCAGCGACAGTCCAGCTCTGGGGACCTCCCTCCGATGACAGCCCAGCTC TGCGGACATCCACCCAATGACAGCCCAGTTCTGGGGACATCCGCCC	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	204	0.0049	-345	c.240 others(19): Show c.240+55278_240+55622del		GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8						chr15	TogoVar
HPD_chr12_121834527_121863859	121851677	TTATTCAT others(338): Show TTATTCATTTATTTATTTATTTATTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAC TTTTTTGTATTTTTTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(319): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0007	a0001c0001 a0001c0004 a0001c0007 others(9): Show a0001c0001 a0001c0004 a0001c0007 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0003c0003 a0004c0006 a0004c0009 a0005c0005 a0007c0011	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 others(9): Show a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0001c0010t0001 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0003c0003t0001 a0004c0006t0001 a0004c0009t0001 a0005c0005t0001 a0007c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(229): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0004t0001g0013 a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0004t0001g0240 a0001c0004t0001g0241 a0001c0007t0001g0018 a0001c0010t0001g0211 a0001c0012t0001g0304 a0001c0013t0001g0048 a0001c0014t0001g0224 a0003c0003t0001g0004 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0154 a0004c0006t0001g0192 a0004c0006t0001g0214 a0004c0009t0001g0161 a0004c0009t0001g0162 a0005c0005t0001g0045 a0005c0005t0001g0046 a0005c0005t0001g0047 a0007c0011t0001g0272	322	406	0.7931	-345	c.415 others(17): Show c.415-2232_415-1888del		HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding	7/13						chr12	TogoVar
INPP5E_chr9_136423619_136444845	136431189	CTCCTCAT others(338): Show CTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTC ACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCC TCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCC TCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCC GCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCC AGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCA CCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02976.hp2 HG01074.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0021 a0001c0005t0009g0021	2	382	0.0052	-345	c.154 others(16): Show c.1549+290_1550-73del		INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9						chr9	TogoVar
KRTAP10-4_chr21_44568729_44580371	44574187	AGCTTGCT others(338): Show AGCTTGCTGCACCTCCTCCCCCTGCCAGCAGGCCTGCTGTGTGCCCATCT GCTGCAAGCCTGTCTGCTCTGGGATTTCCTCTTCGTGCTGCCAGCAGTCT AGCTGTGTGAGCTGTGTGTCCAGCCCCTGCTGCCAGGCGGTCTGTGAGCC CAGCCCCTGCCAATCAGGCTGCATCAGCTCCTGCACGCCCTCGTGCTGCC AGCAGTCTAGCTGCCAGCCGGCTTGCTGCACCTCCTCCTCCTGCCAGCAG GCCTGCTGCGTGCCCGTCTGCTGCAAGACTGTCTGCTGCAAGCCTGTGTG CTCTGAGGATTCCTCTTCATGCTGCCAGCAGTCTAGCTGCCAGCCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18992.hp1 NA18992.hp1	a0030 a0030	a0030c0036 a0030c0036	a0030c0036t0001 a0030c0036t0001	a0030c0036t0001g0000 a0030c0036t0001g0000	1	476	0.0021	-345	c.447 others(7): Show c.447_791del	p.Pro others(13): Show p.Pro150_Ser264del	KRTAP10-4	ENSG00000215454.7	transcript	ENST00000400374.4	protein_coding	1/1	477/1643	447/1206	149/401		INFO_REALIGN_3_PRIME	chr21	TogoVar
LHFPL3_chr7_104323603_104913561	104833553	GCGGGAGT others(338): Show GCGGGAGTTTATTAAGTATTAACTTACATGATCACAAGTTCCCAATATGG GAGTTTATTAAGTATTAACTTACATGATCACAAGTTCCCACAATAGGCTG TCTGCAAGCTTGAGGAGCATATATATATATATATATTATATATATATATA TAATATATATATCCTATTATATATATAATATATATATATCCTATTATATA TATAATATATATATATCCTATTATATATATAATATATATATATCCTATTA TATATATAATATATATATATCCTATTATATATATATCCTATTAGTTCTGT CCCTCTAGTAATACAAGTAAGTAATACAAGTAAGTATGTCCCTATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(81): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03831.hp1 HG03831.hp2 NA18612.hp1 NA18612.hp2 NA18947.hp1 NA18947.hp2 NA18972.hp1 NA18972.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19085.hp1 NA19085.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0012 a0001c0003t0002	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(81): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0003g0003 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0029 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0062 a0001c0001t0003g0070 a0001c0001t0003g0078 a0001c0001t0003g0081 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0033 a0001c0001t0004g0036 a0001c0001t0004g0040 a0001c0001t0004g0045 a0001c0001t0004g0054 a0001c0001t0004g0073 a0001c0001t0004g0075 a0001c0001t0004g0079 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0005g0005 a0001c0001t0005g0020 a0001c0001t0005g0031 a0001c0001t0006g0006 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0007g0004 a0001c0001t0007g0016 a0001c0001t0007g0032 a0001c0001t0007g0066 a0001c0001t0008g0012 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0009g0035 a0001c0001t0010g0007 a0001c0001t0010g0015 a0001c0001t0011g0057 a0001c0001t0011g0063 a0001c0001t0013g0049 a0001c0002t0005g0011 a0001c0002t0005g0085 a0001c0002t0007g0009 a0001c0002t0010g0017 a0001c0002t0012g0008 a0001c0002t0012g0010 a0001c0003t0002g0065	84	86	0.9767	-345	c.683 others(19): Show c.683-72633_683-72289del		LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2						chr7	TogoVar
LRRTM4_chr2_76742685_77527376	77307647	TCTATATA others(338): Show TCTATATATTATAGAAATATAAATATATAGATATATCTATATATTATAGA AATATAAATATATAGATATACCTATATATTATAGAAATATAAATATATAG ATATACCTATATATTATAGAAATATAAATATATAGATATACCTATATATT ATAGAAATATAAATATATAGATATATCTATATATTATAGAAATATAAATA TATAGATATATCTATATATTATAGAAATATAAATATATAGATATATCTAT ATATTATAGAAATATAAATATATAGATATATCTATATATTATAGAAATAT AAATATATAGATATATCTATATATTATAGAAATATAAATATATAGA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA21309.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0038 a0001c0001t0002g0024 a0001c0001t0001g0038 a0001c0001t0002g0024	2	128	0.0156	-345	c.155 others(23): Show c.1551+210326_1551+210670del		LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3						chr2	TogoVar
MIER2_chr19_300573_349796	312395	AGCCACCT others(338): Show AGCCACCTACACCTCTATCCAGGGAGTGACATCAGGGGCCGTCCACACCA CCCTCCTGGGCGATGTCAGGGCCACCTACACCTCTATCCAGGGAGTGACA TCAGGGGCCGTCCACACCACCCTCCTGGGCGATGTCAGGGCCACCTACAC CTCTATCCAGGGAGTGACATCAGGGGCCGTCCACACCACCCTCCTGGGCG ATGTCAGAGCCACCTACACCTCTATCCAGGGACTGGCATCAGGGGCCGTC CACACCACCCTCCTGGGCGATGTCAGGGCCACCTACACCTCTATCCAGGG AGTGACATCAGGGGCCGTCCACACCACCCTCCTGGGCGATGTCAGG	A A	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	384	0.0026	-345	c.808 others(15): Show c.808-468_808-124del		MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	8/13						chr19	TogoVar
MLPH_chr2_237482251_237560322	237543612	TGGGGGAC others(338): Show TGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGG TGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAG TGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACA GTGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGA CAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTG	T T	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18972.hp1 NA18953.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0234 a0001c0001t0001g0235	2	286	0.0070	-345	c.153 others(18): Show c.1539+958_1539+1302del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC4_chr3_195741771_195816929	195776219	TCCATACC others(338): Show TCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTT CCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACA GCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTT CCACACCCATACCTTCCGCATCCATACCTTCCACACCCATACCTTCCACA CCCATACCTTCCGCACCCATACCTTCCACACCCATACCTTCCGCAC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0066 a0066	a0066c0177 a0066c0177	a0066c0177t0004 a0066c0177t0004	a0066c0177t0004g0226 a0066c0177t0004g0226	1	249	0.0040	-345	c.129 others(21): Show c.12943+1739_12944-1915del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MYOM2_chr8_2040046_2150456	2085667	CGTGGCCC others(338): Show CGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTC TTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGA TCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTC GTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTG TTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCC ACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCC CCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0262 a0004c0007t0001g0263 a0004c0007t0001g0262 a0004c0007t0001g0263	2	403	0.0050	-345	c.164 others(17): Show c.1644+286_1644+630del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085879	CGTGGCCC others(338): Show CGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATC TCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGA TCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTC GTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTAC TGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTTTGTGGCCCC CCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGG CCCCACTGTCATGATCTCTGCGTGGCCCCACTGTCATGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0091 a0001c0091	a0001c0091t0001 a0001c0091t0001	a0001c0091t0001g0328 a0001c0091t0001g0328	1	403	0.0025	-345	c.164 others(17): Show c.1644+502_1644+846del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYZAP_chr15_57586904_57690364	57687379	ATGTGTAC others(338): Show ATGTGTACAATATACACATATATATTATATATAATATGTGTGTACAATAT ACACATATATATAATATGTGTGTACAATATACACATATATATAATATGTG TGTACAATATACACATATATATGTGTGTACAATATACACATATATATGTG TGTACAATATACACATATATATGTGTGTACAATATACACATATATATGTG TGTACAATATACACATATATATAATATGTGTGTACAATATACACATATAT ATAATATGTGTGTACAATATACACATATATAATATGTGTGTACAATATAC ACATATATATAATATGTGTGTACAATATACACATATATATAATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03471.hp1 HG03486.hp1 HG02717.hp2 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0246 a0001c0001t0004g0007 a0001c0001t0004g0246	3	352	0.0085	-345	c.28 others(11): Show c.2882_*3226del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2016		chr15	TogoVar
OR11H2_chr14_19707936_19718883	19713949	CGGCCGGG others(338): Show CGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGT CCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGTGTTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	238	0.0042	-345	c.-41 others(8): Show c.-411_-67del		OR11H2	ENSG00000258453.4	transcript	ENST00000556246.3	protein_coding					67		chr14	TogoVar
PLEKHG4B_chr5_87168_194966	175934	CTCCTGCA others(338): Show CTCCTGCACGGCTGCACCCCGCCTGAGCCCTGACCCCTCCAGGCAGACAC GACCAGGGCTCCTGCACGGCTGCACCCCGCCTGAGCCCTGACCCCCTCCA GGTGAAGCCACCACCTCCCCACCGGCCCCTGAAACACTCCGGAGCCAGCT CTGTCAGACACAGGGGGCCCCATGGCGTCGCCACAGGCTCCCCCTCTGGC CCCCAGCCTCCTGGCTACTCCACACCCCCGTGGGCTTCACCCCTGTGCAG CCCCCAACAGCAGTTACTTGGCCAGAGGCCTCACCTCCGAGATGCCACCA TCCTGAAGAGCCTTCCTGGCCTTTTTCCTTCCTTTGTAACCCACGG	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0134 a0004c0006t0134	a0004c0006t0134g0011 a0004c0006t0134g0011	1	210	0.0048	-345	c.440 others(19): Show c.4402+1843_4402+2187del		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	18/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP1R8_chr1_27825782_27856676	27853632	ATCCGGGA others(338): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCTG TCCAGGAGGGAGGTGGGGGTGTCAGCCCCACGCCCGGCCAGCCGCCTCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCTCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGCCGCCTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	340	0.0029	-345	c.31 others(11): Show c.3187_*3531del		PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding					1957		chr1	TogoVar
PRDM2_chr1_13695188_13830079	13698695	AGAGCAGT others(338): Show AGAGCAGTGGGGCATCTTGGCTCACTGCCAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGC CACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACT GTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTC GGCCTCCCAATGTGCTGGGATTACAGGCTGAGCCACCGCGCCCGGCCTAG CCTCATTCTTTTACAATAAGATAACATGATATATGTTGATACAACACGTT TTCTTTCTTTTTTGAGATGGAGTCTGTCTCTGTCGCCCAGGCTGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0183 a0003c0003t0001g0183	1	324	0.0031	-345	c.-16 others(11): Show c.-1670_-1326del		PRDM2	ENSG00000116731.23	transcript	ENST00000311066.10	protein_coding					1492		chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)