Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MUC13_chr3_124900442_124939751	124931772	CGGTGGCT others(514): Show CGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGCGG ATCATGAGGTCAGGAGTTCGAGAACAGCCTGGCCAATGTAGTGAAACCCC GTCTCTACTAAAAATACAAAAAAATTAGCCAGGTGTGGTAGTGAGCACCT GTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGG CAGGCGGAGGTTGCAGTGAGCCAAGATGGCGCCATTGCACTCCAGCCTGG GCAACAAGAACAAAACTCTGTCTCAAAATAAATAAATAAATAATAAAATA AATATTTTTTTCAAAAGCAAACCTTAGTAGCCACAAAACTGTCAGTATTA ATATATCTGGAGGTAGATGGGTGGGAAGTCAGATTGGATGCTCAATTTTT ATTTCATATACATCTGTATTGTTTGGATTTGTTACAGTGGGTCTGCATTA CTTGTATAACTTTTTTAAACAAAGAAGAGGAAATCAAAACCAAAGTTTGA AAATCAGATCCAGGCTGGGCGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0293 a0005c0005t0001g0293	1	452	0.0022	-521	c.52+ others(15): Show c.52+2368_52+2888del	MUC13	ENSG00000173702.7	transcript	ENST00000616727.4	protein_coding	1/11			chr3	TogoVar
MXRA8_chr1_1347691_1363555	1350774	CGGGGGGA others(514): Show CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACCGGGCAGGAGCGACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0044 a0001c0001t0015g0044	1	338	0.0030	-521	c.23 others(11): Show c.2309_*2829del	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1916		chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162260958	CCTCAAAG others(514): Show CCTCAAAGTTTCAAGCAATAATTATTTCATTAGAATTTGTTATATTCCCA AGGTGACTAATATAACAAATTAGAATTTGTTATATTCCCAAGATGACTAA TATAACAAATTAGAATTTGTTATACTCCCAAAGTGCCTTGAAAGTTAATA TTTATTTGGAGATATATATGTTCAGGTATACTTGGCAGAAACAACCAGTA AATCTCATTGGTCTGGCATCAGAGAATGAGGTTCTCCATATAAGTAAAAT TTCCAGGGAACTCAAGCTTTCCCCTCTAAGCATCAGTCCTATCTTTCAAA ATCAATAACATTTAATTACAATATTTTATAACCTTTCATGTCCCCTTGTT CTTAAACAATATCCTGATGTTACCTTCTATGGCAGCAGGGAGTTTGCAGA TTCTTAATGTGCAAACTTTTAAGAATCTTGAGATGGGAGATTACCCTGCA TTATCCAGGTGGGCTCAATCTAATCACAAGAGTCCTTATAGAAGAGAGGC AGCGGGGAGTCAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA19068.hp2 NA19074.hp2 HG03831.hp1 NA19068.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0006 a0001c0001t0001 a0001c0002t0001 a0001c0003t0006	a0001c0001t0001g0038 a0001c0002t0001g0045 a0001c0003t0006g0114 a0001c0001t0001g0038 a0001c0002t0001g0045 a0001c0003t0006g0114	3	182	0.0165	-521	c.178 others(19): Show c.178-26385_178-25865del	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9			chr1	TogoVar
PNKP_chr19_49856204_49872576	49865743	AGCTGGGA others(514): Show AGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTT TAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTG ATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAG GTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATC CCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCT CGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACA CCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTA GGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGG TTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCC GCCCGCCTCGGCCTCCCAAAGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02630.hp1 others(3): Show HG01884.hp2 HG02258.hp1 HG02630.hp1 HG03516.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0111 a0001c0001t0001g0018 a0001c0001t0001g0111	6	430	0.0140	-521	c.198 others(15): Show c.198+135_199-318del	PNKP	ENSG00000039650.12	transcript	ENST00000322344.8	protein_coding	3/16			chr19	TogoVar
SNRNP27_chr2_69888956_69910236	69897912	TGAGGAGA others(514): Show TGAGGAGAGGAAGTAGTGATTTTTAAATAAGGGAGTGGCATGGTTATATG TGTGTTTTGGAATAATGACTCTGGGGGCAGCATGGAGGACAGATGGGAGG TGGGTTAGATTGAAGGCAGGGAGAACTGCTGATTTGTGCAAGTGAAAGAT GATAAAGGCCTGAACTGAGTTGAGAATGATTCAGGAGCTGGGGGAAGTGG GAGTGAGTAGTTAGTAATGCCTCTCAGGTGTCAGGCTGGGACCCTGAGTG ATACAGTTAACCCAGAACAGAGTTTCTGGAAGGGGAACTGCTGGGAAATG GAAGAACAAAATCCAGCTGCCAGATAGAGATGACATTGGGCAGCTGCATA CTTGTCTCATAGCTTAGAAGTGGGGTGGATAGGGGAGGGAATGCTGTCTA GCCTTCATAATAGCAGAGAGATGAGGGAAGAGGAAAAAGAGGGAGGGATT ATATAGAGGAGGGAGAGCATAGAGCGAGAGATGGGGGAAGAGAGAGATGG GTATAGAGAGAGGAAATGAAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(260): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0003t0002	a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0063 others(108): Show a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0100 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0089 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0143 a0001c0001t0004g0012 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0025 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0087 a0001c0001t0004g0107 a0001c0001t0005g0018 a0001c0001t0005g0036 a0001c0001t0006g0002 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0024 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0034 a0001c0001t0006g0037 a0001c0001t0006g0072 a0001c0001t0006g0083 a0001c0001t0006g0106 a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0007g0009 a0001c0001t0007g0027 a0001c0001t0007g0108 a0001c0001t0007g0111 a0001c0001t0008g0035 a0001c0001t0008g0086 a0001c0001t0009g0002 a0001c0001t0009g0007 a0001c0001t0009g0064 a0001c0001t0010g0004 a0001c0001t0014g0081 a0001c0001t0015g0002 a0001c0001t0016g0070 a0001c0001t0017g0015 a0001c0003t0002g0002	263	440	0.5977	-521	c.348 others(15): Show c.348+466_348+986del	SNRNP27	ENSG00000124380.11	transcript	ENST00000244227.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTLL8_chr22_50013575_50063298	50028798	CCCCACAC others(514): Show CCCCACACACCCTCGTAAAGACCCCCATCACGCTGTCCTAAAGACCCCCA CATACCCTCGTAAAGACCCCCATCACACCATCCTAAAGACCCCACATACC CTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCCACACACCCTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCCACACACACTCGTAAAGAC CCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCA CACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCATC CTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGA CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACA CACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTC GTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGA CCCCATCACACCATCCTGAAGA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	224	0.0045	-521	c.225 others(19): Show c.2251+1111_2251+1631del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
UBR3_chr2_169822454_170089131	169890553	ATATATAT others(514): Show ATATATATATATGTGTATATATATATATGTATATATATATGTATATATAT GTATATATATCATTGAGCAGAATGTATTTCCTTTTTGGATTTTTTTTCTA AGCATATTTTAATTTGTTTTTATTATTATTTTTAACTGTCAACTCCAACT TCTAATATGTTGTATTTATTTTTCAAAATTTGATTTGTTGAACTCATTTT TTCTTAGACCCTTCAAAGCCTTTCCTCTATTCATTGTTTTAGTCCTCTCC TCTTCTCTCCTACCTTCCTATAATAATCTCTCTCATTCCACCCTTTAGCT TCTTTGTGCATTCGATGTTAATTTATAAGGTTAGGAAAATTTTTATCTTG GCATTTTGGGGTACTTAAGAGTCTTCCATTAGAAGCAGAGATTACATTTA AGAGCTCTTGTGTTTTGATATTTAGGGATATTTCACTGTATTTTAAAATC AAAATTAACACTAAAATATATATTATAGCAAATACATAGATGTTGATTAG TAGTATGTAAGCATGCATATAT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03654.hp2 HG02738.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0323 a0001c0002t0002g0324	2	324	0.0062	-521	c.103 others(16): Show c.1039-608_1039-88del	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADARB2_chr10_1172313_1742525	1237928	CCCTCCCG others(513): Show CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGC ATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTT	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0065 a0002c0002t0065	a0002c0002t0065g0086 a0002c0002t0065g0086	1	106	0.0094	-520	c.136 others(19): Show c.1361+3683_1362-4084del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AFDN_chr6_167821911_167977023	167940993	ATGTGTGG others(513): Show ATGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCA CAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAA ACCATCCACAGGAGAGATGTGGACAGACACAGAGGGATGTAGGGGTGAGG GTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAG GGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAG GGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGATGTGGACAGAC ACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGT GGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAG AGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATC CACAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGG AAACCATCCACAGGAGAGGTG	A A	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0287 a0001c0004t0001g0287	1	326	0.0031	-520	c.310 others(19): Show c.3100-2131_3100-1612del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
BRSK2_chr11_1384934_1467689	1430742	TTTTGCCA others(513): Show TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGC AGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGG	T T	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0345 a0002c0002t0007g0345	1	360	0.0028	-520	c.92- others(15): Show c.92-5294_92-4775del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CACNA1H_chr16_1148106_1226768	1191189	TCTCTCTT others(513): Show TCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCG GGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTC GGGGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCCGGCACA CTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCAC ACTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGG CACACTCAGGGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTC AGGCACACTTGGGGTCTCTGACCCAGTAGGCTGGCCTGGCTGTGTGGCCT CAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCC TCAGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTG GCCTCAGGCACACTCAGGGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGT GTGGCCTCAGGCACACTCGGG	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0008 a0016c0026t0008	a0016c0026t0008g0279 a0016c0026t0008g0279	1	338	0.0030	-520	c.300 others(17): Show c.300-3782_300-3263del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CFAP61_chr20_20047532_20365698	20357599	AGGGTGGT others(513): Show AGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTC ACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGG GAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGCGG GGAGGTGGTCATACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTC ACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGAAGGTGGTCA CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCATAGTGTGAGG GGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTC ATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAG GGGAGGTGGGCACACTGTGAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03486.hp1 HG02647.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0101 a0002c0002t0003g0118 a0002c0002t0003g0101 a0002c0002t0003g0118	2	236	0.0085	-520	c.351 others(19): Show c.3514-2568_3514-2049del	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CPNE7_chr16_89570758_89602246	89579746	CACACAGA others(513): Show CACACAGAACATCTCACCCATCACACGGAACATCCCGTCACCCGCTGACA CGGAACATCTCACCCGTCACACGGAACATCCCACACCCATCACACGGAAC ATCTCACCCATCACACGGAACATCCCGTCACCTGCTGACACGGAACATCT CACCCATCACACGGAACATCCCGTCACCCGCTGACACAGAACATCTCACC CGTCACATGGAACATCCCGTCACCCGTCACACGGAACATCCCATCACACG GAACATCTCACCCATCACACGGAACATCCTGTCACCCGCTGACACGGAAC ATCTCACCCGTCACACGGAACATCCCATCACCTGCAGACACGGAACATCT CACCCATCACACAGAACATCCCGTCACCCGCTGACACAGAACATCTCACC CGTCACACGGAACATCCCGTCACCCGCTGACACAGAACATCTCACCCGTC ACACGGAACATCCCGTCACCCGCTGACACGGAACATCTCCCCCATCACAC GGAACATCCCATCACCTGCAG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	348	0.0029	-520	c.357 others(17): Show c.357+2076_357+2595del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CYP4F11_chr19_15907377_15939529	15931541	CGGGGAGA others(513): Show CGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0052 a0002c0001t0052	a0002c0001t0052g0151 a0002c0001t0052g0151	1	386	0.0026	-520	c.198 others(17): Show c.198+2150_199-1941del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933309	GGAATGAG others(513): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01433.hp1 HG00423.hp2 HG01433.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0168 a0002c0001t0015 a0002c0001t0168	a0002c0001t0015g0162 a0002c0001t0168g0360 a0002c0001t0015g0162 a0002c0001t0168g0360	2	386	0.0052	-520	c.198 others(15): Show c.198+382_198+901del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
ERC1_chr12_986223_1500931	1088830	GTTGTTGT others(513): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC GTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGC CTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGA TTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTG TTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTA TTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATG CCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0105 a0002c0002t0105	a0002c0002t0105g0148 a0002c0002t0105g0148	1	162	0.0062	-520	c.108 others(19): Show c.1086+5260_1086+5779del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088895	GTTGTTGT others(513): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTATTGT TGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCAT TATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGC CTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGA TTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTG TTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTA TTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATG CCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	162	0.0062	-520	c.108 others(19): Show c.1086+5325_1086+5844del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122109	ATCTCTAT others(513): Show ATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTAT CTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCT CTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCT ATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGT CTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCT CTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGT GTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTAT CTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCT CTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCT ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTAT CTCTATCTCTATCTGTGTCTC	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02559.hp2 NA20752.hp2 HG01515.hp2 HG02559.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0090 a0001c0001t0133 a0001c0001t0028 a0001c0001t0090 a0001c0001t0133	a0001c0001t0028g0129 a0001c0001t0090g0032 a0001c0001t0133g0094 a0001c0001t0028g0129 a0001c0001t0090g0032 a0001c0001t0133g0094	3	162	0.0185	-520	c.156 others(19): Show c.1569+6078_1569+6597del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
EXOC2_chr6_480154_698139	601926	GAATCCAC others(513): Show GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTCTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03453.hp2 HG03491.hp2 others(5): Show HG02300.hp1 HG03453.hp2 HG03491.hp2 HG03942.hp2 NA18612.hp1 NA18982.hp2 NA19055.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 a0001c0001 a0001c0002 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0010 a0001c0017t0005	a0001c0001t0001g0015 a0001c0001t0001g0080 a0001c0001t0001g0130 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0080 a0001c0001t0001g0130 a0001c0001t0001g0239 a0001c0001t0002g0146 a0001c0002t0001g0073 a0001c0002t0010g0055 a0001c0017t0005g0082	8	272	0.0294	-520	c.743 others(17): Show c.743-3221_743-2702del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241805482	TCCCTCCC others(513): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGA CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGC CCAAGGGACCTAGGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0125 a0002c0002t0002g0125	1	314	0.0032	-520	c.13 others(11): Show c.1317_*1836del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1196		chr2	TogoVar
GIP_chr17_48953554_48973596	48959796	GGTAGGGA others(513): Show GGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTGGGTAGGGACA GGCAGGCCACAGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCAGGCCAC AGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCAGGCCACAGGATGGGCT CAGCTCGGTGGGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTG GGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGACA GGCGGGCCACAGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCGGGACAC AGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGACACAGGATGGGCT CAGCTCGGTGGGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGTG GGTAGGGACAGGCGGGACATAGGATGGGCTCAGCTCTGTGTGTAGGGACA GGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGACAC AGGATGGGCTCAGCTCTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02738.hp1 HG03017.hp1 others(2): Show HG02071.hp2 HG02738.hp1 HG03017.hp1 HG03704.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0067 others(2): Show a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0092 a0001c0001t0001g0140	5	406	0.0123	-520	c.452 others(16): Show c.452+570_453-1081del	GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	5/5			chr17	TogoVar
LMLN_chr3_197955217_198048720	198004562	CATCTATA others(513): Show CATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGACA TCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTGA CATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTT GACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGT TTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAA GTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGT AAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTA GTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACG TAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATA CGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACATATCA TACGTAGTAAGTTTGACATCT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02257.hp1 HG03490.hp1 others(1): Show HG01258.hp1 HG02257.hp1 HG03490.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0251 others(1): Show a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0251 a0001c0001t0001g0252	4	258	0.0155	-520	c.131 others(19): Show c.1319+1680_1319+2199del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEU4_chr2_241804193_241822413	241805482	TCCCTCCC others(513): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGA CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGC CCAAGGGACCTAGGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	319	0.0031	-520	c.-37 others(11): Show c.-3795_-3276del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3710		chr2	TogoVar
NKAIN4_chr20_63235784_63259463	63257338	AGGACAGT others(513): Show AGGACAGTGGAGGACAGTGATGGACAGTGGAGGACAGTGATGGACAGCGG AGGACAGTGATGGCGAGCGGAGGACAGTGATGGAGAGCGGAGGACAGTGA TGGACAGCGGAGGACAGTGATGGCGAGCGGAGGACAGTGATGGACAGCGG AGGACAGTGATGGACAGCGGAGGACAGTGATGGACAGCGGAGGACAGTGA TGGAGAACGGAGGACAGTGATGGACAGCGGAGGACAGTGATGGACAGAGG AGGACAGTGATGGAGAGTGGAGGACAGTGATGGACAGCGGAGGACAGTGA TGGACAGTGGAGGACAGTGATGGAGAACGGAGGACAGCGATGGACAGCGG AGGACAGCGATGGACAGCGGATGACAGTGGAGGACAGCGGATGACAGTGG AGGACAGTGGAGGACAGCGATGGACAGTGGAGGACAGTGATGGACAGCGG AGGACAGTGATGGACAGTAATGGACAGTGATGGACAGCGGAGGACAGTGA TGGACAGCGGAGGACAGCGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0178 a0001c0007t0001g0178	1	354	0.0028	-520	c.-34 others(11): Show c.-3408_-2889del	NKAIN4	ENSG00000101198.15	transcript	ENST00000370316.8	protein_coding		2876		chr20	TogoVar
NOC4L_chr12_132139457_132157468	132149576	CACACCAC others(513): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	294	0.0034	-520	c.901 others(15): Show c.901+682_902-885del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149972	CACACCAC others(513): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0186 a0002c0002t0003g0186	1	294	0.0034	-520	c.902 others(16): Show c.902-1008_902-489del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150016	CACACCCC others(513): Show CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0001 a0020c0018t0001	a0020c0018t0001g0149 a0020c0018t0001g0149	1	294	0.0034	-520	c.902 others(15): Show c.902-964_902-445del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
RCOR1_chr14_102587649_102735561	102676515	CCACCTCC others(513): Show CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCAGGTGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCTGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCCGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0150 a0001c0001t0046g0150	1	292	0.0034	-520	c.362 others(17): Show c.362-5378_362-4859del	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC2_chr6_168436184_168672992	168560598	GCCCTGAG others(513): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTT GGAGGAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	180	0.0056	-520	c.637 others(19): Show c.637+11421_637+11940del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560624	ATTCTTGG others(513): Show ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACAC GAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTG AGACACGAGGCTCTCACTGCG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0014	1	180	0.0056	-520	c.637 others(19): Show c.637+11445_637+11964del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560837	TGGAGGAG others(513): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCA TTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTG CGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTC ACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTC TCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGC TCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAG GCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACG AGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACA CGAGGCTCTCACTGTGTTCTC	T T	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	180	0.0056	-520	c.637 others(19): Show c.637+11705_637+12224del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561898	GCCCTGAG others(513): Show GCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTG TCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGG AGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTT GGAGGAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03654.hp1 NA20905.hp2 HG02735.hp2 HG03654.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0004c0009t0003 a0001c0001t0001 a0004c0009t0003	a0001c0001t0001g0085 a0001c0001t0001g0117 a0004c0009t0003g0088 a0001c0001t0001g0085 a0001c0001t0001g0117 a0004c0009t0003g0088	3	180	0.0167	-520	c.637 others(19): Show c.637+12707_637+13226del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168615142	AGGGGGCC others(513): Show AGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACA GCCAGCACAGGGCCTCTTTATACCTACAGCCAGCACGGGGCCTCTTCACA CCTACAGCCAGCACGGGGCCTTTTCACACCTACAGCCAGCATGGGGCCTC TTCACACCTACAGCCAGCACGGGGCCTCTTCACACCTACAGCCAGCACAG GGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGC CAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACA CCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACACGGCCTC TTCACACCTACAGCCAGCACAGGGTCTCTTCATCTTCATACTTACAGCCG GCACAGGGCCTCTTTACATCTACAGCCAGCACAGGGCCTCTTCATACCTA CAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTT CATACCTACAGCCAGCACAGG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	180	0.0056	-520	c.907 others(17): Show c.907+6907_907+7426del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1106837	CCTTGGTA others(513): Show CCTTGGTAAGAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGG AGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTAT GGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGT ATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGG GTATGGAGAGCTCCTTGATAATAATGGACACGTGCTGTCACTCGGGTGCA GGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTG CAGGGTATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGG TGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCG GGTGCAGGGTATGGAGAGCTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG01256.hp2 others(16): Show HG00438.hp2 HG00673.hp1 HG01256.hp2 HG02015.hp2 HG02132.hp1 HG02602.hp1 HG02683.hp1 HG02965.hp1 HG03239.hp1 HG03490.hp1 HG03942.hp1 HG03942.hp2 NA18942.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0008	a0001c0001 a0001c0002 a0002c0003 others(6): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0022 a0003c0008 a0006c0010 a0007c0024 a0008c0011	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0005t0001 a0002c0022t0001 a0003c0008t0001 a0006c0010t0001 a0007c0024t0002 a0008c0011t0001	a0001c0001t0001g0038 a0001c0002t0001g0031 a0001c0002t0001g0087 others(16): Show a0001c0001t0001g0038 a0001c0002t0001g0031 a0001c0002t0001g0087 a0001c0002t0001g0115 a0001c0002t0001g0133 a0001c0002t0001g0170 a0001c0002t0001g0186 a0002c0003t0001g0092 a0002c0005t0001g0114 a0002c0005t0001g0131 a0002c0022t0001g0155 a0003c0008t0001g0013 a0003c0008t0001g0130 a0006c0010t0001g0006 a0006c0010t0001g0009 a0006c0010t0001g0162 a0007c0024t0002g0073 a0008c0011t0001g0128 a0008c0011t0001g0188	19	190	0.1000	-520	c.325 others(17): Show c.325+8436_325+8955del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1106993	CCTTGGTA others(513): Show CCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGG AGAGCTCCTTGATAATAATGGACACGTGCTGTCACTCGGGTGCAGGGTAT GGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGT ATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGG GTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCA GGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTG CAGGGTATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGG TGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGTCACGTGCTGTCACTCG GGTGCAGGGTATGGAGAGCTG	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0134 a0004c0004t0001g0134	1	190	0.0053	-520	c.325 others(17): Show c.325+8592_325+9111del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAT3_chr17_42308324_42393442	42337881	TGACCTGA others(513): Show TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp1 HG02976.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0178 a0001c0001t0004g0010 a0001c0001t0002g0178 a0001c0001t0004g0010	2	302	0.0066	-520	c.550 others(14): Show c.550+330_551-25del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
VPS53_chr17_503668_719839	505441	GAGAGCGG others(513): Show GAGAGCGGGGTCAGGACAGTGGTTGAGATGGAAGCTGACTTTGTAGAAGA GCATTGGTGACCTTCGAGATCAGGGTCAGGACAGCGGTTGAGATAGAAGC TGACTTTCTAGAAGAGCATTGGTGACCTTCGAGAGCAGGGTCAGGACAGC GGTTGAGATGGAAGCTGACTTTCTAGAAGAGCACCGGTGACCCTCGAGAG CGGGGTCAGGACAGTGGTTGAGATGGAAGCTGACTTTGTAGAAGAGCATT GGTGACCTTCGAGATCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACT TTCTAGAAGAGCATTGGTGACCTTCGAGAGCAGGGTCAGGACAGCGGTTG AGATGGAAGCTGACTTTCTAGAAGAGCACCGGTGACCCTCAAGAGCGGGG TCAGGACAGTGGTTGAGATGGAAGCTGACTTTGTAGAAGAGCATTGGTGA CCTTCAAGATCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTA GAAGAGCACCGGTGACCCTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0113 a0001c0006t0001g0113	1	232	0.0043	-520	c.13 others(13): Show c.13167_*13686del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		3226		chr17	TogoVar
VPS53_chr17_503668_719839	642455	TGAGGACA others(513): Show TGAGGACAACACTCATACTTGGAAACCGAGGACAACACTCATACTTGGAA AGCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACTCATACTTGG AAATCAAGGACAACACTCATACTTGGCAACTGAGGACAACACTCATACTT GGCAACTGGGGACAACACTCATACTTGGAAAGCGAGGACAACACTCATAC TTGGAAAGCGAGGACAACACTCATACTTGGCAACCGAGGACAACACTCAT ACTTGGCAACCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACTC ATACTTGGAAAGCGAGGACAACACTCATACTTGGAAATCAAGGACAACAC TCATACTTGGAAAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAAC ACTCATACTTGGAAATCGAGGACAACACTCATACTTGGAAATCGAGGACA ACACTCATACTTGGCAACCGAGGACAACACTCATACTTGGCAACCGAGGA CAACTCTCATACTTGGAAAGC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02602.hp1 NA18747.hp1 others(6): Show HG02135.hp2 HG02602.hp1 NA18747.hp1 NA18960.hp2 NA18994.hp2 NA19000.hp2 NA19010.hp2 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0019 a0001c0005t0020 others(4): Show a0001c0005t0010 a0001c0005t0019 a0001c0005t0020 a0001c0005t0042 a0001c0005t0044 a0001c0005t0045 a0001c0005t0046	a0001c0005t0010g0008 a0001c0005t0019g0006 a0001c0005t0019g0007 others(6): Show a0001c0005t0010g0008 a0001c0005t0019g0006 a0001c0005t0019g0007 a0001c0005t0020g0005 a0001c0005t0020g0010 a0001c0005t0042g0044 a0001c0005t0044g0096 a0001c0005t0045g0009 a0001c0005t0046g0011	9	232	0.0388	-520	c.608 others(19): Show c.608+10316_609-10828del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
VPS53_chr17_503668_719839	642792	TCAAGGAC others(513): Show TCAAGGACAACACTCATACTTGGAAAGCGAGGACAACACTCATACTTGGA AAGCGAGGACAACACTCATACTTGGAAATCGAGGACAACACTCATACTTG GAAATCGAGGACAACACTCATACTTGGCAACCGAGGACAACACTCATACT TGGCAACCGAGGACAACTCTCATACTTGGAAAGCGAGGACAACACTCATA CTTGGAAAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACTCA TACTTGGAAATCAAGGACAACACTCATACTTGGCAACTGAGGACAACACT CATACTTGGAAACCGAGGACAACACTCACACTTGGAAAGCGAGGACAACA CTCATACTTGGAAAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAA CACTCATACTTGGCAACTGAGGACAACACTCATACTTGGAAACCGAGGAC AACACTCATACTTGGAAAGTGAGGACAACACTCATACTTGGAAAGTGAGG ACAACACTCATACTGGGAAAC	T T	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0087 a0001c0002t0010g0087	1	232	0.0043	-520	c.608 others(18): Show c.608+9979_608+10498del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
ZNF835_chr19_56656980_56676757	56669506	TCAGGAGT others(513): Show TCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGTCTACCAGGAGTCC TCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCA TAAATGTACTTGGGGGCCTACCAGGAGTCCTCCATTAGCATAAATGTACT TGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTA TCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGTCTACCAGGAGTCC TCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCA TAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACT TGGGGGCCTACCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTA TCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCC TCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCA TAAATGTACTTGGGGGCCTAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG01257.hp2 others(23): Show HG00544.hp1 HG00621.hp2 HG01257.hp2 HG01358.hp2 HG02015.hp2 HG02027.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02300.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02886.hp1 HG02896.hp1 HG03540.hp2 HG03704.hp1 NA18906.hp2 NA18943.hp1 NA18979.hp1 NA19030.hp2 NA19055.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0004 a0004c0005 a0002c0002 a0002c0004 a0004c0005	a0002c0002t0006 a0002c0004t0009 a0004c0005t0006 others(1): Show a0002c0002t0006 a0002c0004t0009 a0004c0005t0006 a0004c0005t0026	a0002c0002t0006g0040 a0002c0002t0006g0113 a0002c0004t0009g0011 others(6): Show a0002c0002t0006g0040 a0002c0002t0006g0113 a0002c0004t0009g0011 a0002c0004t0009g0098 a0004c0005t0006g0008 a0004c0005t0006g0116 a0004c0005t0006g0118 a0004c0005t0026g0114 a0004c0005t0026g0117	26	450	0.0578	-520	c.-48 others(17): Show c.-48+1550_-48+2069del	ZNF835	ENSG00000127903.14	transcript	ENST00000537055.4	protein_coding	1/1			chr19	TogoVar
ADARB2_chr10_1172313_1742525	1235709	CCCTGTGT others(512): Show CCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGG GCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCA CCATGATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCT ATCTGTCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGC CATACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTG TGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCA CCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCA TCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGT GAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGA GCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGC ATTTCCTTCTTCGGTGTTTA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02080.hp2 HG02109.hp1 others(1): Show HG01243.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0001c0001t0022 a0002c0002t0004 others(1): Show a0001c0001t0011 a0001c0001t0022 a0002c0002t0004 a0002c0002t0005	a0001c0001t0011g0026 a0001c0001t0022g0015 a0002c0002t0004g0095 others(1): Show a0001c0001t0011g0026 a0001c0001t0022g0015 a0002c0002t0004g0095 a0002c0002t0005g0022	4	106	0.0377	-519	c.136 others(19): Show c.1362-2383_1362-1865del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
BRSK2_chr11_1384934_1467689	1430081	GTTTTGCC others(512): Show GTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTT	G G	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0345 a0002c0002t0007g0345	1	360	0.0028	-519	c.92- others(15): Show c.92-5956_92-5438del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398113	TGTCACCT others(512): Show TGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCAC ATACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACC CCCGCACACACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCT CCGTACACCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCGTACCCCTGCACACACCTCCGTCACCTCCGTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTA CCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCA CCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCGCACACAC CTGCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCC GCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCC CTACCCCCGCACACACCTGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03209.hp1 HG02630.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0182 a0001c0001t0001g0183	2	216	0.0093	-519	c.106 others(17): Show c.1068+469_1069-343del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1071754	CCCCCAGC others(512): Show CCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCAC ACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCC CAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCC CCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAG CCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCC AGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGG GCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACA CGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0034 a0002c0011t0002g0034	1	118	0.0085	-519	c.224 others(19): Show c.2241+1360_2241+1878del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SNX12_chrX_71054247_71073334	71069032	ACTTATTT others(512): Show ACTTATTTCATACCTTCTATTTCTACTCCGCAGAACTCCATACTTGGCAC TGCTCTGAGGTTGCTTGCAACCCATAATGGAGATAGAATAAATGTTTACA TGAGAATATCTATAGAAATATTAATATTTATATGACTAATTTACATATGC TCCACATTAAAGGGTAGACTGGGTGATGATTTCAGGTCATCCTTTCTCCA CCTTTCCCCTGCCCTCCTCTACTCAAAAAATATTTCCCATATCACTGATG CCTGAAATTCTTTCAACAGAGTATGAGGCCCTACAATTTCACAATTGCTG TTTAATTCAATTTAACCAATATCCACTAAGCAAATACGTGCCAAGCACCA TGCTAAACACTAAAATCCTGGAGTTAAATAAGAGTCCCTGCCCTCAAGGA GTTAACATTCTAGCAAGGGAGACAAGTAAACAAAACTAATATAATGCGAC AAATACAAAATAAGTAAATGTTCAAAGCAGCACATAGGAAATGTATAACT GGAAAAATTAGGGGAGGTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	309	0.0032	-519	c.-12 others(10): Show c.-1245_-727del	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		699		chrX	TogoVar
TFPI_chr2_187459230_187559435	187556833	GGCCCCTA others(512): Show GGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC TGGGAAGTGAGGAGCGTCTCCGCCCAGCAGCCACCCCGTCCGGGAGGGAG GTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCGGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCTG GCAAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCGGG CCAGCCACCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGTG AGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00438.hp1 others(66): Show HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01934.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02148.hp1 HG02155.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02647.hp2 HG02809.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18950.hp2 NA18975.hp1 NA18980.hp1 NA18994.hp1 NA18998.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19074.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0023	a0001c0001t0001g0154 a0001c0001t0001g0242 a0001c0001t0001g0252 others(59): Show a0001c0001t0001g0154 a0001c0001t0001g0242 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0153 a0001c0001t0002g0240 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0003g0266 a0001c0001t0004g0157 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0281 a0001c0001t0005g0155 a0001c0001t0005g0246 a0001c0001t0005g0256 a0001c0001t0005g0285 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0007g0148 a0001c0001t0007g0156 a0001c0001t0007g0286 a0001c0001t0008g0245 a0001c0001t0008g0255 a0001c0001t0014g0241 a0001c0001t0016g0024 a0001c0001t0016g0025 a0001c0001t0018g0151 a0001c0001t0018g0152 a0001c0001t0023g0273	69	344	0.2006	-519	c.-31 others(11): Show c.-3155_-2637del	TFPI	ENSG00000003436.16	transcript	ENST00000233156.9	protein_coding		2399		chr2	TogoVar
ADARB2_chr10_1172313_1742525	1235710	CCTGTGTC others(511): Show CCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGGG CCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCAC CATGATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTA TCTGTCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCC ATACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGT GTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCAC CAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCAT CCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTG AATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAG CAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCA TTTCCTTCTTCGGTGTTTA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0020 a0008c0013t0020	a0008c0013t0020g0037 a0008c0013t0020g0037	1	106	0.0094	-518	c.136 others(19): Show c.1362-2383_1362-1866del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AFDN_chr6_167821911_167977023	167941081	ATGAGGGT others(511): Show ATGAGGGTGGAAACCATCCACAGGAGAGATGTGGACAGACACAGAGGGAT GTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACAC AGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGG ACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAG ATGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACA GGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAAC CATCCACAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGG GTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAG GGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAG GGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAG ACACAGAGGGATGTAGGGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG03225.hp1 others(1): Show HG01109.hp2 HG01891.hp2 HG03225.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0002c0017 a0001c0002 a0001c0007 a0002c0017	a0001c0002t0001 a0001c0007t0005 a0002c0017t0005 a0001c0002t0001 a0001c0007t0005 a0002c0017t0005	a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0007t0005g0273 others(1): Show a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0007t0005g0273 a0002c0017t0005g0285	4	326	0.0123	-518	c.310 others(19): Show c.3100-2020_3100-1503del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
ASAP1_chr8_130047104_130448674	130049238	GGAACATA others(511): Show GGAACATATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACA TGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCA GAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAAC ACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGG GCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGG GAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATG GGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGA GGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGAGGG CAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGA ACACATGGGGGGCAGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02080.hp1 HG00423.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0126 a0002c0002t0003g0250 a0002c0002t0003g0126 a0002c0002t0003g0250	2	308	0.0065	-518	c.49 others(11): Show c.4975_*5492del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2865		chr8	TogoVar
ATG7_chr3_11267397_11562665	11525067	GGCTCTGT others(511): Show GGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCCCACTGCA ACCTCCACCTTCTGGGCTCAAGTGATTGTCCTGCCTCAGCCTCAGCTGGG ACCACAGGCGTGCACTACCACACCCAGCTAATTTTTTTATTTTTAGTAGA GATGTGGTTTTGCCATGTTGGCCAGGGTTGTCTCGGACTCCTGACCTCAG GTGATCTACCCGCCTTGACCTCCCAAAGTGCTAGGATTATAGGTATGAGC CACTGTACCCAGCCAGTGAAAGTAGAAATTATTTATTTATTTAACTATTC CTTGAAAAGAGGAAACAAAATGTTCCCTCTTTAGCCTGAATGATTAACTT TACTCATAAGAGGTTCACAGTAAGACATGTGATTTTTTTTTTTTTTTTTT TTTACTCCTTTGCCCTTGTATGTGACAGATGCTCATTTGTTTGTTGATTA ACACCTTTTACACAGCCAACATTAATATCTAGTTATAGCCTTTTTTTTTT TTTTTTTAAACGGAGTCTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02647.hp1 others(5): Show HG02258.hp1 HG02280.hp1 HG02647.hp1 HG02717.hp1 HG02896.hp2 HG03041.hp1 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0037 a0001c0002t0007 a0001c0002t0037	a0001c0002t0007g0098 a0001c0002t0007g0172 a0001c0002t0007g0173 others(5): Show a0001c0002t0007g0098 a0001c0002t0007g0172 a0001c0002t0007g0173 a0001c0002t0007g0174 a0001c0002t0007g0176 a0001c0002t0007g0177 a0001c0002t0007g0178 a0001c0002t0037g0171	8	292	0.0274	-518	c.208 others(21): Show c.2080-29735_2080-29218del	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar

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Search Results (Total: 10000 hits)