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
DPH7_chr9_137549444_137583925	137565927	CTCTGTCT others(317): Show CTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCC CTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGG AAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGT CTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGG GTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGC TCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCT GTGAGGAAGCTCCCCGGGGTGACTG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	340	0.0029	-324	c.641 others(16): Show c.641-1097_641-774del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566902	TGTCTGTG others(317): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18951.hp2 NA18975.hp1 others(2): Show NA18950.hp1 NA18951.hp2 NA18975.hp1 NA19010.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0010 a0001c0001t0001g0127 a0001c0005t0001g0011 a0001c0001t0001g0010 a0001c0001t0001g0127 a0001c0005t0001g0011	5	340	0.0147	-324	c.641 others(17): Show c.641-2072_641-1749del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DRAM1_chr12_101872580_101928612	101873792	CCTCCGCC others(317): Show CCTCCGCCTCCCGGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGATTACAGGGGCCCACCACTACACCCGGCTGATTTTTGTATTTTTA GTAGAGATGAGGTTTCACCATGTTGGCTGGGCTGGTCTCGAACTCCTGAC CTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCATGCCCGGCCTCAGATTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGTCCAGTCTGGAGTGCAG TTGCGCGATCTCGGCTCACTGCAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02451.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0044 a0001c0001t0034 a0001c0001t0044	a0001c0001t0034g0369 a0001c0001t0044g0368 a0001c0001t0034g0369 a0001c0001t0044g0368	2	396	0.0051	-324	c.-39 others(11): Show c.-3997_-3674del	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding		3787		chr12	TogoVar
EHHADH_chr3_185185624_185259049	185230658	GTATGATT others(317): Show GTATGATTCTGTTTATATGAAATATCCAGAATAGGCAAAACATGATAAAC AAAAAAAGCCAGTCACAGGAGACCACATATCATATGATTCTGTTTATATG AAATATCCAGAATAGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGG AGACCACATATCATATGATTCTGTTTATATGAAATATCCAGAATAGGCAA AACATGATAAACAAAAAAAGCCAGTCACAGGAGACCACATATCGTATGAT TCTGTTTATATGAAATATCCAGAATAGGCAAAACATGATAAACAAAAAAA GCCAGTCACAGGAGACCACATATCA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0012 a0015c0019t0012	a0015c0019t0012g0278 a0015c0019t0012g0278	1	348	0.0029	-324	c.352 others(17): Show c.352-1439_352-1116del	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	3/6			chr3	TogoVar
EXOC2_chr6_480154_698139	676831	CCTCTGGT others(317): Show CCTCTGGTGACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGAC AGGTTCCTCTGGAGACTGCGGTTCCCCATACTCTTCAACATTACAGAAAG GACAGGTTCCTCTGAAGACTCTGCGGTTCCCCATACTCTTCAACATTACG GAAAGGACAGCTTTCTCTGGAGACTGCGGTTCCCCATACTCTTCAACATT ACGGAAAGGACAGCTTTCTCTGGAGACTCTGCGGTTCCCCATACTCTTCA ACATTACGGAAAGGACAGCTTTCTCTGGAGACTGCGGTTTCCCATACTCT TCAACATTACGGAAAGGACAGCTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(137): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01517.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19072.hp1 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0011 a0001c0015 a0001c0017 a0002c0005 a0006c0023 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0012 a0001c0002t0020 a0001c0002t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0016 a0001c0003t0017 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0007t0002 a0001c0010t0002 a0001c0011t0008 a0001c0015t0003 a0001c0017t0005 a0002c0005t0002 a0006c0023t0002 a0007c0012t0001	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 others(137): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0052 a0001c0001t0002g0106 a0001c0001t0003g0005 a0001c0001t0003g0028 a0001c0001t0003g0050 a0001c0001t0003g0059 a0001c0001t0003g0067 a0001c0001t0003g0074 a0001c0001t0003g0084 a0001c0001t0003g0111 a0001c0001t0003g0117 a0001c0001t0003g0122 a0001c0001t0003g0137 a0001c0001t0004g0011 a0001c0001t0004g0042 a0001c0001t0004g0076 a0001c0001t0004g0081 a0001c0001t0004g0087 a0001c0001t0004g0104 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0143 a0001c0001t0005g0024 a0001c0001t0005g0027 a0001c0001t0005g0075 a0001c0001t0005g0088 a0001c0001t0005g0091 a0001c0001t0006g0033 a0001c0001t0006g0093 a0001c0001t0006g0115 a0001c0001t0006g0129 a0001c0001t0007g0150 a0001c0001t0009g0107 a0001c0001t0009g0112 a0001c0001t0015g0019 a0001c0001t0018g0083 a0001c0001t0019g0090 a0001c0001t0023g0119 a0001c0001t0026g0269 a0001c0002t0001g0008 a0001c0002t0001g0030 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0099 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0002g0031 a0001c0002t0002g0047 a0001c0002t0002g0057 a0001c0002t0002g0072 a0001c0002t0002g0118 a0001c0002t0003g0043 a0001c0002t0004g0009 a0001c0002t0004g0018 a0001c0002t0004g0022 a0001c0002t0004g0070 a0001c0002t0005g0023 a0001c0002t0006g0132 a0001c0002t0010g0035 a0001c0002t0010g0055 a0001c0002t0012g0039 a0001c0002t0012g0044 a0001c0002t0020g0036 a0001c0002t0021g0037 a0001c0003t0001g0060 a0001c0003t0002g0020 a0001c0003t0002g0061 a0001c0003t0002g0155 a0001c0003t0007g0157 a0001c0003t0009g0149 a0001c0003t0016g0029 a0001c0003t0017g0193 a0001c0004t0002g0156 a0001c0004t0003g0079 a0001c0004t0003g0116 a0001c0004t0004g0006 a0001c0007t0002g0123 a0001c0010t0002g0264 a0001c0010t0002g0265 a0001c0011t0008g0154 a0001c0015t0003g0041 a0001c0017t0005g0082 a0002c0005t0002g0097 a0006c0023t0002g0051 a0007c0012t0001g0094	140	272	0.5147	-324	c.-44 others(19): Show c.-44+15864_-44+16187del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC3L4_chr14_103089725_103115559	103109327	CCTCCCTC others(317): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTC CACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCC TCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCT GTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTC CCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCT CTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01175.hp2 others(12): Show HG00735.hp1 HG00735.hp2 HG01175.hp2 HG01346.hp1 HG02027.hp2 HG02602.hp1 HG03239.hp2 HG03486.hp1 NA18950.hp1 NA18957.hp1 NA18973.hp2 NA18975.hp2 NA18980.hp2 NA19011.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0005 a0002c0011 a0003c0001 others(4): Show a0001c0005 a0002c0011 a0003c0001 a0003c0066 a0004c0002 a0004c0010 a0005c0004	a0001c0005t0001 a0002c0011t0001 a0003c0001t0001 others(5): Show a0001c0005t0001 a0002c0011t0001 a0003c0001t0001 a0003c0001t0003 a0003c0066t0001 a0004c0002t0001 a0004c0010t0001 a0005c0004t0001	a0001c0005t0001g0033 a0002c0011t0001g0200 a0003c0001t0001g0111 others(11): Show a0001c0005t0001g0033 a0002c0011t0001g0200 a0003c0001t0001g0111 a0003c0001t0001g0113 a0003c0001t0001g0120 a0003c0001t0001g0130 a0003c0001t0001g0171 a0003c0001t0001g0173 a0003c0001t0001g0178 a0003c0001t0003g0114 a0003c0066t0001g0129 a0004c0002t0001g0014 a0004c0010t0001g0181 a0005c0004t0001g0216	15	404	0.0371	-324	c.197 others(17): Show c.1977-702_1977-379del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EYS_chr6_63714980_65712226	65564948	TAAAAAGT others(317): Show TAAAAAGTGGGTGAACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02451.hp1 HG02451.hp2 others(19): Show HG01169.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020	a0001c0009 a0001c0012 a0002c0008 others(19): Show a0001c0009 a0001c0012 a0002c0008 a0002c0021 a0003c0002 a0003c0019 a0004c0017 a0005c0010 a0006c0022 a0007c0018 a0008c0007 a0009c0006 a0010c0003 a0012c0005 a0013c0020 a0014c0004 a0015c0011 a0016c0014 a0017c0013 a0018c0016 a0019c0023 a0020c0015	a0001c0009t0001 a0001c0012t0002 a0002c0008t0002 others(19): Show a0001c0009t0001 a0001c0012t0002 a0002c0008t0002 a0002c0021t0001 a0003c0002t0002 a0003c0019t0001 a0004c0017t0001 a0005c0010t0001 a0006c0022t0001 a0007c0018t0001 a0008c0007t0001 a0009c0006t0001 a0010c0003t0001 a0012c0005t0001 a0013c0020t0002 a0014c0004t0002 a0015c0011t0002 a0016c0014t0001 a0017c0013t0001 a0018c0016t0001 a0019c0023t0001 a0020c0015t0002	a0001c0009t0001g0012 a0001c0012t0002g0021 a0002c0008t0002g0020 others(19): Show a0001c0009t0001g0012 a0001c0012t0002g0021 a0002c0008t0002g0020 a0002c0021t0001g0008 a0003c0002t0002g0019 a0003c0019t0001g0006 a0004c0017t0001g0002 a0005c0010t0001g0015 a0006c0022t0001g0011 a0007c0018t0001g0007 a0008c0007t0001g0009 a0009c0006t0001g0004 a0010c0003t0001g0016 a0012c0005t0001g0014 a0013c0020t0002g0022 a0014c0004t0002g0024 a0015c0011t0002g0018 a0016c0014t0001g0005 a0017c0013t0001g0017 a0018c0016t0001g0003 a0019c0023t0001g0010 a0020c0015t0002g0023	22	24	0.9167	-324	c.-33 others(21): Show c.-332-69279_-332-68956del	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	2/42			chr6	TogoVar
FBLN7_chr2_112133385_112193218	112139259	GGCCAGCG others(317): Show GGCCAGCGTCCCTCCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTC TCCAGGCCAGCGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCC TCTCTCCAGGTCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCC CGCCTCTCTCCAGGCCAGTGTCCCTCACGCCTCTCTCCAGGTCAGTGTCC CTCCCGCCTCTCTCCAGGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGC GTCCCTCCCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGC CAGCGTCCCTCCCGCCTCTCTCCAC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01346.hp2 HG01891.hp1 others(8): Show HG00639.hp2 HG01346.hp2 HG01891.hp1 HG02280.hp2 HG02486.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG03486.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0043 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0002g0047 a0001c0001t0003g0052	11	346	0.0318	-324	c.75+ others(13): Show c.75+535_75+858del	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FMN2_chr1_240086883_240480187	240453690	TAAAAATG others(317): Show TAAAAATGGAAGGCATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAGACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC TGCCTCAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(116): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG06807.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18972.hp1 NA18972.hp2 NA19000.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19077.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(68): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0039 a0040 a0042 a0043 a0044 a0047 a0048 a0050 a0051 a0054 a0055 a0056 a0059 a0060 a0061 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0073 a0075 a0078 a0079 a0080 a0081 a0082 a0084 a0087 a0088 a0090 a0091 a0092 a0095	a0001c0001 a0001c0009 a0001c0017 others(97): Show a0001c0001 a0001c0009 a0001c0017 a0001c0076 a0001c0089 a0001c0108 a0001c0129 a0002c0008 a0002c0015 a0002c0018 a0002c0127 a0003c0010 a0003c0069 a0003c0085 a0003c0116 a0003c0117 a0004c0006 a0006c0023 a0006c0072 a0006c0077 a0007c0071 a0007c0121 a0008c0019 a0008c0055 a0008c0110 a0009c0004 a0009c0052 a0010c0003 a0010c0050 a0011c0002 a0012c0061 a0012c0070 a0012c0119 a0013c0020 a0013c0081 a0014c0012 a0014c0035 a0015c0005 a0016c0011 a0016c0027 a0017c0016 a0018c0095 a0019c0022 a0020c0109 a0020c0125 a0021c0021 a0022c0092 a0023c0013 a0024c0036 a0024c0051 a0025c0032 a0025c0033 a0026c0042 a0026c0043 a0027c0014 a0029c0063 a0030c0062 a0031c0064 a0032c0096 a0033c0084 a0034c0120 a0035c0118 a0036c0082 a0037c0115 a0039c0068 a0040c0090 a0042c0067 a0043c0105 a0044c0088 a0047c0122 a0048c0078 a0050c0073 a0051c0103 a0054c0100 a0055c0102 a0056c0087 a0059c0075 a0060c0080 a0061c0079 a0064c0066 a0065c0112 a0066c0107 a0067c0091 a0068c0133 a0069c0106 a0070c0113 a0073c0128 a0075c0057 a0078c0037 a0079c0034 a0080c0029 a0081c0031 a0082c0030 a0084c0054 a0087c0044 a0088c0045 a0090c0053 a0091c0049 a0092c0028 a0095c0025	a0001c0001t0002 a0001c0009t0001 a0001c0009t0006 others(105): Show a0001c0001t0002 a0001c0009t0001 a0001c0009t0006 a0001c0017t0004 a0001c0076t0004 a0001c0089t0002 a0001c0108t0001 a0001c0129t0001 a0002c0008t0003 a0002c0015t0002 a0002c0018t0004 a0002c0127t0001 a0003c0010t0001 a0003c0010t0003 a0003c0069t0004 a0003c0085t0004 a0003c0116t0003 a0003c0117t0001 a0004c0006t0002 a0004c0006t0004 a0006c0023t0001 a0006c0072t0002 a0006c0077t0004 a0007c0071t0004 a0007c0121t0003 a0008c0019t0007 a0008c0055t0001 a0008c0110t0003 a0009c0004t0003 a0009c0052t0003 a0010c0003t0001 a0010c0003t0003 a0010c0050t0001 a0011c0002t0001 a0011c0002t0003 a0012c0061t0002 a0012c0070t0002 a0012c0119t0003 a0013c0020t0001 a0013c0081t0002 a0014c0012t0001 a0014c0012t0003 a0014c0035t0001 a0015c0005t0002 a0015c0005t0003 a0016c0011t0001 a0016c0011t0007 a0016c0027t0001 a0017c0016t0002 a0018c0095t0008 a0019c0022t0006 a0020c0109t0003 a0020c0125t0003 a0021c0021t0001 a0022c0092t0001 a0023c0013t0003 a0024c0036t0001 a0024c0051t0003 a0025c0032t0003 a0025c0033t0007 a0026c0042t0001 a0026c0043t0003 a0027c0014t0001 a0029c0063t0009 a0030c0062t0009 a0031c0064t0001 a0032c0096t0003 a0033c0084t0002 a0034c0120t0001 a0035c0118t0007 a0036c0082t0002 a0037c0115t0007 a0039c0068t0004 a0040c0090t0002 a0042c0067t0002 a0043c0105t0010 a0044c0088t0009 a0047c0122t0001 a0048c0078t0002 a0050c0073t0002 a0051c0103t0001 a0054c0100t0001 a0055c0102t0003 a0056c0087t0002 a0059c0075t0002 a0060c0080t0011 a0061c0079t0004 a0064c0066t0002 a0065c0112t0003 a0066c0107t0001 a0067c0091t0003 a0068c0133t0005 a0069c0106t0001 a0070c0113t0003 a0073c0128t0002 a0075c0057t0001 a0078c0037t0001 a0079c0034t0001 a0080c0029t0001 a0081c0031t0001 a0082c0030t0001 a0084c0054t0003 a0087c0044t0001 a0088c0045t0001 a0090c0053t0001 a0091c0049t0007 a0092c0028t0001 a0095c0025t0003	a0001c0001t0002g0055 a0001c0001t0002g0071 a0001c0001t0002g0169 others(116): Show a0001c0001t0002g0055 a0001c0001t0002g0071 a0001c0001t0002g0169 a0001c0009t0001g0072 a0001c0009t0006g0131 a0001c0017t0004g0068 a0001c0076t0004g0083 a0001c0089t0002g0090 a0001c0108t0001g0075 a0001c0129t0001g0164 a0002c0008t0003g0104 a0002c0008t0003g0124 a0002c0008t0003g0125 a0002c0015t0002g0052 a0002c0015t0002g0054 a0002c0018t0004g0070 a0002c0018t0004g0098 a0002c0127t0001g0137 a0003c0010t0001g0074 a0003c0010t0001g0076 a0003c0010t0003g0073 a0003c0069t0004g0067 a0003c0085t0004g0061 a0003c0116t0003g0115 a0003c0117t0001g0166 a0004c0006t0002g0087 a0004c0006t0004g0091 a0006c0023t0001g0080 a0006c0072t0002g0086 a0006c0077t0004g0096 a0007c0071t0004g0064 a0007c0121t0003g0121 a0008c0019t0007g0113 a0008c0055t0001g0079 a0008c0110t0003g0170 a0009c0004t0003g0037 a0009c0004t0003g0043 a0009c0004t0003g0048 a0009c0052t0003g0006 a0010c0003t0001g0016 a0010c0003t0003g0026 a0010c0050t0001g0025 a0011c0002t0001g0042 a0011c0002t0003g0047 a0012c0061t0002g0088 a0012c0070t0002g0060 a0012c0119t0003g0117 a0013c0020t0001g0082 a0013c0020t0001g0106 a0013c0081t0002g0099 a0014c0012t0001g0034 a0014c0012t0003g0011 a0014c0035t0001g0044 a0015c0005t0002g0040 a0015c0005t0003g0041 a0015c0005t0003g0045 a0016c0011t0001g0159 a0016c0011t0007g0158 a0016c0027t0001g0160 a0017c0016t0002g0085 a0018c0095t0008g0167 a0019c0022t0006g0162 a0020c0109t0003g0118 a0020c0125t0003g0126 a0021c0021t0001g0116 a0022c0092t0001g0107 a0023c0013t0003g0028 a0024c0036t0001g0023 a0024c0051t0003g0035 a0025c0032t0003g0003 a0025c0033t0007g0024 a0026c0042t0001g0004 a0026c0043t0003g0014 a0027c0014t0001g0173 a0029c0063t0009g0059 a0030c0062t0009g0058 a0031c0064t0001g0001 a0032c0096t0003g0128 a0033c0084t0002g0097 a0034c0120t0001g0127 a0035c0118t0007g0136 a0036c0082t0002g0168 a0037c0115t0007g0110 a0039c0068t0004g0069 a0040c0090t0002g0081 a0042c0067t0002g0051 a0043c0105t0010g0171 a0044c0088t0009g0094 a0047c0122t0001g0123 a0048c0078t0002g0053 a0050c0073t0002g0093 a0051c0103t0001g0109 a0054c0100t0001g0129 a0055c0102t0003g0114 a0056c0087t0002g0049 a0059c0075t0002g0089 a0060c0080t0011g0057 a0061c0079t0004g0100 a0064c0066t0002g0017 a0065c0112t0003g0112 a0066c0107t0001g0134 a0067c0091t0003g0120 a0068c0133t0005g0153 a0069c0106t0001g0172 a0070c0113t0003g0139 a0073c0128t0002g0095 a0075c0057t0001g0142 a0078c0037t0001g0008 a0079c0034t0001g0013 a0080c0029t0001g0015 a0081c0031t0001g0018 a0082c0030t0001g0021 a0084c0054t0003g0027 a0087c0044t0001g0012 a0088c0045t0001g0005 a0090c0053t0001g0009 a0091c0049t0007g0157 a0092c0028t0001g0145 a0095c0025t0003g0038	119	174	0.6839	-324	c.506 others(21): Show c.5060+15498_5060+15821del	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNS_chr16_88808734_88861947	88831306	TGCGTGGG others(317): Show TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGA GCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTG GGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGT GAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGG GGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGG AGAGCGGTGAGGCCGAGCACGGGGA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG03195.hp2 others(1): Show HG02895.hp1 HG02896.hp2 HG03195.hp2 HG03225.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0007 a0005c0013t0012 a0005c0013t0007 a0005c0013t0012	a0005c0013t0007g0387 a0005c0013t0007g0388 a0005c0013t0012g0398 others(1): Show a0005c0013t0007g0387 a0005c0013t0007g0388 a0005c0013t0012g0398 a0005c0013t0012g0399	4	404	0.0099	-324	c.100 others(17): Show c.1002+368_1002+691del	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831342	AGCGTGGG others(317): Show AGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGA GCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTG GGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGT GAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGG GGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGG AGAGCGGTGAGGCCGAGCACGGGGT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0381 a0001c0001t0001g0381	1	404	0.0025	-324	c.100 others(17): Show c.1002+332_1002+655del	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GGCT_chr7_30491621_30509829	30495985	TTTTTTTT others(317): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCTATCCTAAGCTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01169.hp1 others(13): Show HG01074.hp1 HG01099.hp1 HG01169.hp1 HG01928.hp1 HG02273.hp1 HG02615.hp1 HG02615.hp2 HG02895.hp2 HG02922.hp1 HG03098.hp2 HG03195.hp1 HG03704.hp2 HG04228.hp1 NA18968.hp1 NA19043.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0147 a0001c0001t0002g0002 a0001c0001t0002g0003 others(13): Show a0001c0001t0001g0147 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0129 a0001c0001t0002g0162 a0001c0001t0002g0186 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0109 a0001c0001t0004g0008 a0001c0001t0004g0049 a0001c0001t0005g0114 a0001c0001t0005g0118 a0001c0001t0008g0105	16	444	0.0360	-324	c.78 others(10): Show c.783_*1106del	GGCT	ENSG00000006625.18	transcript	ENST00000275428.9	protein_coding		635		chr7	TogoVar
HLA-DQB1_chr6_32654467_32671657	32654736	ACTGGGCA others(317): Show ACTGGGCATGGTGGTTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAG GTGGGTGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATG GTGAAACCCTGTCTCGGGAAACCCCTGTCTCTACTAAAAATACAAAAATT ATCTGGGCATGGTAGTGCATGCCTGTAGTCCCAGCTATTTGGGAGGCTGA GGCAGGAGAATTGCTTGAATCCCAGAGGCGGAGGTTGCAGTGAGTGGAGA CAGCACCAATGCACTCCAGTCTAAGTGACAGAGCAAGACTCTGTCCCAAA AAAAAAAAAAAAAAAGGAAATTGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(209): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0008 a0009 a0010 a0012 a0016 a0017	a0001c0001 a0002c0002 a0002c0017 others(7): Show a0001c0001 a0002c0002 a0002c0017 a0004c0004 a0008c0008 a0009c0010 a0010c0009 a0012c0012 a0016c0018 a0017c0016	a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 others(13): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0002c0002t0002 a0002c0017t0002 a0004c0004t0001 a0008c0008t0008 a0009c0010t0001 a0010c0009t0001 a0010c0009t0010 a0010c0009t0016 a0010c0009t0017 a0012c0012t0002 a0012c0012t0018 a0016c0018t0002 a0017c0016t0008	a0001c0001t0006g0003 a0001c0001t0006g0017 a0001c0001t0012g0014 others(31): Show a0001c0001t0006g0003 a0001c0001t0006g0017 a0001c0001t0012g0014 a0001c0001t0014g0021 a0001c0001t0014g0033 a0002c0002t0002g0007 a0002c0002t0002g0010 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0017t0002g0045 a0004c0004t0001g0002 a0004c0004t0001g0034 a0004c0004t0001g0035 a0004c0004t0001g0036 a0008c0008t0008g0008 a0008c0008t0008g0051 a0009c0010t0001g0009 a0010c0009t0001g0030 a0010c0009t0010g0018 a0010c0009t0010g0023 a0010c0009t0010g0027 a0010c0009t0016g0037 a0010c0009t0017g0038 a0012c0012t0002g0012 a0012c0012t0018g0039 a0016c0018t0002g0042 a0017c0016t0008g0052	212	402	0.5274	-324	c.51 others(11): Show c.5176_*5499del	HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding		4730		chr6	TogoVar
IL3RA_chrX_1331785_1387689	1366047	CGGGTGCG others(317): Show CGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGT GCGCGGCGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGAGCGGGGTGCGCG GGGTGCGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGCGTG AGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGG GGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGAGCCGGGTGCGCGGGGTGA GCGGGGTGCGCGGGGTGAGCCGGGTGAGCCGGGTGCGCGGGGTGAGCCGG GTGCGCGGGGTGAGCGGGGTGCGCG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0100 a0001c0001t0006g0100	1	115	0.0087	-324	c.874 others(16): Show c.874+801_874+1124del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132771870	GCGAAGAG others(317): Show GCGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCA CCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCA GCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCAC AGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGG CCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACA GAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGA CACAGAGGCCACAGCAGCCACCCGA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	204	0.0049	-324	c.978 others(17): Show c.978-5800_978-5477del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15			chr10	TogoVar
INPP5A_chr10_132532787_132788480	132771884	AGACACTC others(317): Show AGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTG GGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCACGAGG AGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGAT GAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACAGCAGCCACC CGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGC CACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAG CAGCCACCCGATGAAGAGTGGGACG	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18969.hp1 NA18939.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0116 a0001c0001t0002g0139 a0001c0001t0001g0116 a0001c0001t0002g0139	2	204	0.0098	-324	c.978 others(17): Show c.978-5640_978-5317del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772144	GGAGTGGG others(317): Show GGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCG ATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACAGCAGCCA CCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCA GCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCAC AGCAGCCACCCCATGAAGAGTGGGACGGACACTCAGCACTGACACGGAGG CCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACA GAGGCCACGGCAGCCACCCCATGAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0189 a0001c0003t0002g0189	1	204	0.0049	-324	c.978 others(17): Show c.978-5435_978-5112del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KASH5_chr19_49383249_49422990	49386218	CAGATCAT others(317): Show CAGATCATGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TGGTAGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCCCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA CAAAAAAACAAAAAAAAAAACAGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00544.hp2 others(78): Show HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp2 HG01517.hp1 HG01891.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03540.hp1 HG03688.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18944.hp2 NA18961.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18999.hp2 NA19012.hp2 NA19058.hp1 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0010	a0001c0001 a0001c0005 a0001c0014 others(6): Show a0001c0001 a0001c0005 a0001c0014 a0002c0003 a0002c0007 a0002c0009 a0003c0008 a0006c0017 a0010c0020	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0005t0006 a0001c0005t0008 a0001c0005t0010 a0001c0014t0003 a0002c0003t0004 a0002c0007t0005 a0002c0009t0011 a0003c0008t0003 a0006c0017t0007 a0010c0020t0003	a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0220 others(70): Show a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0220 a0001c0001t0002g0263 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0007g0155 a0001c0001t0007g0157 a0001c0001t0013g0177 a0001c0001t0014g0179 a0001c0005t0006g0156 a0001c0005t0006g0159 a0001c0005t0006g0161 a0001c0005t0006g0162 a0001c0005t0006g0163 a0001c0005t0006g0165 a0001c0005t0006g0166 a0001c0005t0006g0167 a0001c0005t0008g0154 a0001c0005t0008g0158 a0001c0005t0008g0160 a0001c0005t0010g0051 a0001c0014t0003g0204 a0002c0003t0004g0002 a0002c0003t0004g0020 a0002c0003t0004g0021 a0002c0003t0004g0144 a0002c0003t0004g0145 a0002c0003t0004g0146 a0002c0003t0004g0147 a0002c0003t0004g0148 a0002c0003t0004g0149 a0002c0003t0004g0150 a0002c0003t0004g0151 a0002c0003t0004g0153 a0002c0007t0005g0311 a0002c0007t0005g0312 a0002c0009t0011g0152 a0003c0008t0003g0193 a0003c0008t0003g0201 a0006c0017t0007g0164 a0010c0020t0003g0188	81	354	0.2288	-324	c.-22 others(11): Show c.-2204_-1881del	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding		2030		chr19	TogoVar
KCNH8_chr3_19143510_19540642	19321384	ACTATTTT others(317): Show ACTATTTTTCAGTTCAAAGAATTTTTGAATTTACATCTTGATTTCATTGT GGACCTAATGATCATTCAAGAGCAGGTTATTTAATTTCTATGTATTTGCA TGGTTTTGAGGGTTCCTATTGGAGTTGATTTCCAATTTTATTCCACTGTG GTCTGAGACAGTACTTGATATAATTTCTATTTTCTTAAATTTATTGAGAC TTCTTGTGACCTATCATATGGTCTATCTTGGAGAATGTTTTGTGTGCTGA TGAGTAGAATGTATATTATGCAGTTGTTGGGTAGAATGTTCTGTAAATAA CTGTTAAGTCTATTTGTTCTAGAGT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA20300.hp2 HG02258.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0008 a0001c0001t0004g0015 a0001c0001t0001g0008 a0001c0001t0004g0015	2	134	0.0149	-324	c.443 others(19): Show c.443-21202_443-20879del	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15			chr3	TogoVar
KLC4_chr6_43054631_43080093	43067794	CAAAAAAA others(317): Show CAAAAAAAAAAAAAAAAAATGAAAATATAGGTGGACAGGCCGGGCGCGGT GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCA CGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01928.hp2 HG02145.hp2 others(4): Show HG01175.hp1 HG01928.hp2 HG02145.hp2 NA18747.hp2 NA18940.hp2 NA18992.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0048 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0048 a0001c0001t0001g0125 a0001c0002t0001g0069	7	342	0.0205	-324	c.879 others(16): Show c.879+730_879+1053del	KLC4	ENSG00000137171.15	transcript	ENST00000347162.10	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
LIPG_chr18_49557057_49604185	49577700	CCCCCCAA others(317): Show CCCCCCAACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGTGGGCGGGCAGAGGCGCCCCTCACCTCCTGGACG GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0182 a0001c0005t0007g0182	1	384	0.0026	-324	c.793 others(17): Show c.793+2116_793+2439del	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49577739	GGGGGGGC others(317): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTG GGGGGGCTGACCCCCCCATCTCCCTCCCAGACGGGGTGGCTGGCCGGGCT GAGGGGCTCCTCACTTCCCAGTAGGGGTGGGCGGGCAGAGGCGCCCCTCA CCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGCACGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0191 a0001c0001t0101g0191	1	384	0.0026	-324	c.793 others(17): Show c.793+2156_793+2479del	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMNB1_chr5_126772136_126842020	126784880	GCTCGATC others(317): Show GCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCT GGGATTACAGGCGTAAGCCACTGCCCTCCGCCCGAATTTTTAAAAATTAA TTTTATTATTATTATTTTTGAGACGGAGTCTTGCTGTGTCACCAGGCTGG AGTGCAGTGGCACAACCTTGGCTCACTGCAATCTCTGCCTCCCGGGTTCA AGTGATTCTGCCGCCTCAGCCTCCCAAATATCTGGGATTACAGGCACCCG CCACCATGCCCGGCTAATTTTTTTTTTTTTTAATTTCTAGTAGAAACGGG GTTTCACCATGTCGGCCAGGATCAT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03209.hp2 HG03471.hp1 HG03041.hp2 HG03209.hp2 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0007 a0001c0008t0003 a0001c0006t0007 a0001c0008t0003	a0001c0006t0007g0044 a0001c0006t0007g0046 a0001c0008t0003g0045 a0001c0006t0007g0044 a0001c0006t0007g0046 a0001c0008t0003g0045	3	374	0.0080	-324	c.359 others(17): Show c.359+7046_359+7369del	LMNB1	ENSG00000113368.12	transcript	ENST00000261366.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
LRCH3_chr3_197786254_197893436	197877187	TTCACCGC others(317): Show TTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCT TTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACC GCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGT GATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCC AACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCC ATGGCAGTGATTCTCTTTACCCAAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03017.hp1 HG04228.hp2 others(7): Show HG00423.hp1 HG03017.hp1 HG04228.hp2 NA18612.hp1 NA18943.hp2 NA18954.hp2 NA18966.hp2 NA18970.hp1 NA19003.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0010 a0001c0002t0012 others(3): Show a0001c0001t0010 a0001c0002t0010 a0001c0002t0012 a0001c0002t0025 a0001c0002t0050 a0001c0002t0052	a0001c0001t0010g0012 a0001c0001t0010g0015 a0001c0002t0010g0017 others(7): Show a0001c0001t0010g0012 a0001c0001t0010g0015 a0001c0002t0010g0017 a0001c0002t0010g0159 a0001c0002t0010g0177 a0001c0002t0012g0029 a0001c0002t0012g0030 a0001c0002t0025g0131 a0001c0002t0050g0226 a0001c0002t0052g0221	10	292	0.0343	-324	c.220 others(19): Show c.2208+1463_2208+1786del	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC69_chr8_91097619_91224257	91140628	TTCAATAT others(317): Show TTCAATATGTGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(205): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19072.hp2 NA19074.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0006t0002 a0002c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(199): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0182 a0001c0001t0001g0249 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0181 a0001c0001t0002g0187 a0001c0001t0002g0277 a0001c0001t0002g0281 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0302 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0002g0041 a0002c0006t0002g0154 a0002c0007t0001g0061	208	318	0.6541	-324	c.651 others(17): Show c.651+4906_651+5229del	LRRC69	ENSG00000214954.9	transcript	ENST00000448384.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
LYZL1_chr10_29284070_29316232	29306250	TAGAAAAA others(317): Show TAGAAAAAATAAGGAACTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG01261.hp2 others(13): Show HG00280.hp1 HG00733.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp1 HG01978.hp2 HG01981.hp2 HG02145.hp1 HG02280.hp2 HG02615.hp1 HG02723.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp2 HG03654.hp2 HG03710.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0009 a0001c0001 a0003c0004 a0004c0009	a0001c0001t0001 a0003c0004t0003 a0003c0004t0006 others(2): Show a0001c0001t0001 a0003c0004t0003 a0003c0004t0006 a0003c0004t0007 a0004c0009t0003	a0001c0001t0001g0202 a0001c0001t0001g0253 a0003c0004t0003g0036 others(11): Show a0001c0001t0001g0202 a0001c0001t0001g0253 a0003c0004t0003g0036 a0003c0004t0003g0037 a0003c0004t0003g0074 a0003c0004t0003g0176 a0003c0004t0003g0203 a0003c0004t0003g0204 a0003c0004t0006g0310 a0003c0004t0006g0323 a0003c0004t0006g0325 a0003c0004t0006g0355 a0003c0004t0007g0265 a0004c0009t0003g0188	16	442	0.0362	-324	c.299 others(17): Show c.299-3842_299-3519del	LYZL1	ENSG00000120563.10	transcript	ENST00000649382.2	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAGI2_chr7_78012055_79458667	78330319	TAGAAAGA others(317): Show TAGAAAGATTCCTTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp1 others(21): Show HG00140.hp1 HG00140.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01261.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp1 NA18522.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0012 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0011t0001 a0001c0012t0001 a0001c0015t0001	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0036 others(21): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0024 a0001c0002t0005g0003 a0001c0003t0001g0011 a0001c0003t0002g0004 a0001c0003t0003g0001 a0001c0003t0004g0002 a0001c0004t0001g0031 a0001c0004t0001g0034 a0001c0005t0001g0005 a0001c0006t0001g0038 a0001c0007t0001g0040 a0001c0011t0001g0023 a0001c0012t0001g0022 a0001c0015t0001g0027	24	40	0.6000	-324	c.140 others(21): Show c.1408+13135_1408+13458del	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	9/21			chr7	TogoVar
MED14_chrX_40643305_40740542	40645922	TTCCTTTC others(317): Show TTCCTTTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCAGTGGCGCG ATCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGC TAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATC TCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACTGCGCCCGGCCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(244): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0013 a0001c0014 a0002c0015 a0003c0012 a0004c0010 a0005c0005 a0006c0007 a0007c0006 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0003t0001 a0001c0004t0001 a0001c0008t0001 a0001c0009t0001 a0001c0013t0001 a0001c0014t0001 a0002c0015t0013 a0003c0012t0001 a0004c0010t0002 a0005c0005t0001 a0006c0007t0002 a0007c0006t0001 a0008c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(235): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0241 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0109 a0001c0001t0002g0126 a0001c0001t0002g0130 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0162 a0001c0001t0002g0181 a0001c0001t0003g0167 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0006g0137 a0001c0001t0009g0156 a0001c0001t0011g0191 a0001c0001t0012g0111 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0217 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0004g0218 a0001c0002t0004g0219 a0001c0002t0004g0220 a0001c0002t0007g0019 a0001c0002t0008g0026 a0001c0002t0010g0237 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0004t0001g0002 a0001c0008t0001g0129 a0001c0009t0001g0088 a0001c0013t0001g0236 a0001c0014t0001g0169 a0002c0015t0013g0242 a0003c0012t0001g0043 a0004c0010t0002g0006 a0005c0005t0001g0093 a0006c0007t0002g0049 a0007c0006t0001g0210 a0008c0011t0001g0077	247	251	0.9841	-324	c.55 others(11): Show c.5560_*5883del	MED14	ENSG00000180182.11	transcript	ENST00000324817.6	protein_coding		2382		chrX	TogoVar
MICAL2_chr11_12105590_12268785	12130997	GAAAGATC others(317): Show GAAAGATCCCAGTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TTCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(201): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19077.hp2 NA19078.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19240.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0014 a0015 a0016 a0018 a0020 a0021	a0001c0001 a0001c0002 a0001c0003 others(46): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0018 a0001c0019 a0001c0024 a0001c0026 a0001c0030 a0001c0031 a0001c0036 a0001c0041 a0001c0046 a0001c0051 a0001c0059 a0001c0066 a0002c0015 a0002c0021 a0002c0067 a0003c0045 a0003c0050 a0004c0020 a0004c0054 a0004c0055 a0004c0056 a0005c0016 a0005c0033 a0006c0023 a0007c0025 a0007c0057 a0008c0042 a0010c0022 a0011c0060 a0014c0044 a0015c0040 a0016c0035 a0018c0061 a0020c0034 a0021c0068	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(63): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0007t0001 a0001c0008t0001 a0001c0008t0002 a0001c0008t0003 a0001c0009t0001 a0001c0009t0002 a0001c0010t0001 a0001c0010t0002 a0001c0010t0004 a0001c0011t0001 a0001c0011t0002 a0001c0012t0001 a0001c0013t0001 a0001c0013t0002 a0001c0013t0004 a0001c0014t0001 a0001c0018t0001 a0001c0019t0001 a0001c0024t0001 a0001c0026t0001 a0001c0030t0001 a0001c0031t0005 a0001c0036t0001 a0001c0041t0001 a0001c0046t0001 a0001c0051t0001 a0001c0059t0001 a0001c0066t0001 a0002c0015t0001 a0002c0021t0001 a0002c0067t0001 a0003c0045t0002 a0003c0050t0002 a0004c0020t0001 a0004c0054t0001 a0004c0055t0001 a0004c0056t0001 a0005c0016t0001 a0005c0033t0001 a0006c0023t0002 a0007c0025t0001 a0007c0057t0001 a0008c0042t0001 a0010c0022t0002 a0011c0060t0001 a0014c0044t0002 a0015c0040t0002 a0016c0035t0001 a0018c0061t0001 a0020c0034t0001 a0021c0068t0002	a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0037 others(200): Show a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0001g0084 a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0262 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0002g0220 a0001c0001t0003g0064 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0002t0001g0006 a0001c0002t0001g0025 a0001c0002t0001g0038 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0172 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0256 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0292 a0001c0002t0001g0312 a0001c0002t0001g0319 a0001c0002t0001g0321 a0001c0002t0002g0260 a0001c0002t0003g0063 a0001c0002t0003g0092 a0001c0002t0003g0131 a0001c0003t0001g0017 a0001c0003t0001g0132 a0001c0003t0001g0147 a0001c0003t0001g0199 a0001c0003t0001g0225 a0001c0003t0001g0252 a0001c0003t0001g0274 a0001c0003t0001g0279 a0001c0003t0001g0285 a0001c0003t0001g0293 a0001c0003t0001g0306 a0001c0003t0001g0350 a0001c0003t0002g0024 a0001c0003t0002g0099 a0001c0003t0002g0224 a0001c0003t0002g0237 a0001c0003t0002g0339 a0001c0004t0001g0003 a0001c0004t0001g0040 a0001c0004t0001g0044 a0001c0004t0001g0065 a0001c0004t0001g0078 a0001c0004t0001g0079 a0001c0004t0001g0085 a0001c0004t0001g0136 a0001c0004t0001g0159 a0001c0004t0001g0178 a0001c0004t0001g0214 a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0004t0001g0322 a0001c0004t0002g0231 a0001c0004t0002g0233 a0001c0004t0002g0236 a0001c0004t0002g0354 a0001c0005t0001g0020 a0001c0005t0001g0031 a0001c0005t0001g0082 a0001c0005t0001g0086 a0001c0005t0001g0126 a0001c0005t0001g0145 a0001c0005t0001g0196 a0001c0005t0002g0026 a0001c0005t0002g0052 a0001c0005t0002g0053 a0001c0005t0002g0054 a0001c0005t0002g0055 a0001c0005t0002g0056 a0001c0005t0002g0261 a0001c0006t0001g0049 a0001c0006t0001g0073 a0001c0006t0001g0083 a0001c0006t0001g0114 a0001c0006t0001g0127 a0001c0006t0001g0263 a0001c0006t0002g0087 a0001c0006t0002g0242 a0001c0006t0003g0270 a0001c0007t0001g0144 a0001c0007t0001g0179 a0001c0007t0001g0244 a0001c0007t0001g0257 a0001c0007t0001g0326 a0001c0008t0001g0129 a0001c0008t0001g0152 a0001c0008t0001g0168 a0001c0008t0001g0171 a0001c0008t0001g0181 a0001c0008t0001g0209 a0001c0008t0001g0300 a0001c0008t0002g0204 a0001c0008t0003g0067 a0001c0008t0003g0190 a0001c0009t0001g0041 a0001c0009t0001g0153 a0001c0009t0001g0201 a0001c0009t0002g0352 a0001c0010t0001g0010 a0001c0010t0001g0133 a0001c0010t0002g0116 a0001c0010t0002g0217 a0001c0010t0004g0356 a0001c0011t0001g0155 a0001c0011t0001g0275 a0001c0011t0001g0330 a0001c0011t0001g0343 a0001c0011t0002g0097 a0001c0012t0001g0069 a0001c0012t0001g0074 a0001c0012t0001g0135 a0001c0012t0001g0185 a0001c0012t0001g0258 a0001c0012t0001g0280 a0001c0013t0001g0047 a0001c0013t0001g0268 a0001c0013t0001g0299 a0001c0013t0002g0134 a0001c0013t0004g0039 a0001c0014t0001g0001 a0001c0014t0001g0042 a0001c0014t0001g0045 a0001c0014t0001g0315 a0001c0018t0001g0255 a0001c0019t0001g0125 a0001c0024t0001g0198 a0001c0024t0001g0327 a0001c0026t0001g0143 a0001c0030t0001g0348 a0001c0031t0005g0355 a0001c0036t0001g0061 a0001c0041t0001g0036 a0001c0046t0001g0121 a0001c0051t0001g0337 a0001c0059t0001g0272 a0001c0066t0001g0202 a0002c0015t0001g0173 a0002c0015t0001g0310 a0002c0015t0001g0313 a0002c0015t0001g0314 a0002c0021t0001g0298 a0002c0067t0001g0032 a0003c0045t0002g0235 a0003c0050t0002g0207 a0004c0020t0001g0301 a0004c0054t0001g0329 a0004c0055t0001g0068 a0004c0056t0001g0034 a0005c0016t0001g0113 a0005c0016t0001g0130 a0005c0016t0001g0191 a0005c0016t0001g0192 a0005c0033t0001g0151 a0006c0023t0002g0213 a0006c0023t0002g0219 a0007c0025t0001g0297 a0007c0057t0001g0271 a0008c0042t0001g0066 a0010c0022t0002g0170 a0011c0060t0001g0241 a0014c0044t0002g0349 a0015c0040t0002g0012 a0016c0035t0001g0169 a0018c0061t0001g0177 a0020c0034t0001g0254 a0021c0068t0002g0212	204	358	0.5698	-324	c.-14 others(19): Show c.-148-7378_-148-7055del	MICAL2	ENSG00000133816.19	transcript	ENST00000683283.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
MLPH_chr2_237482251_237560322	237544823	GGGGGACA others(317): Show GGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAG TGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTGA GTGGGGGCACAGTGGTGAGTGGGGACAGTGGGTGGAGGGGGCACTATTGG TAGGGGGGACAATTATTGGGGGGGGGCACTAATTGTGAGGGGGGACCAGT GTTGAGTGGGGGAATAGTTATGAGT	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02486.hp2 HG03490.hp2 others(2): Show HG02040.hp2 HG02486.hp2 HG03490.hp2 HG03492.hp2 NA19079.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0024 a0001c0001 a0015c0024	a0001c0001t0001 a0001c0001t0002 a0015c0024t0001 a0001c0001t0001 a0001c0001t0002 a0015c0024t0001	a0001c0001t0001g0183 a0001c0001t0002g0098 a0001c0001t0002g0099 others(2): Show a0001c0001t0001g0183 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0279 a0015c0024t0001g0140	5	286	0.0175	-324	c.154 others(19): Show c.1540-1772_1540-1449del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTHFD2_chr2_74193615_74222565	74220625	TCCTGCCT others(317): Show TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAG CCAGGATGGTCTCCATCTCCTGACCTTGTGATCTGCCCGCCTCAGCCTCC CAAAGTGCTGGGACTACAGGCGTGAGCCACCGCGCCTGGCTTCTGTTTTC TGTCAATATTTCCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACT CTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAAGCT CTGCCTCCTGGGTTCATGCCATTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG03209.hp2 others(1): Show HG01884.hp1 HG02257.hp1 HG03209.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0023 a0001c0001t0010 a0001c0001t0023	a0001c0001t0010g0269 a0001c0001t0010g0270 a0001c0001t0010g0271 others(1): Show a0001c0001t0010g0269 a0001c0001t0010g0270 a0001c0001t0010g0271 a0001c0001t0023g0277	4	414	0.0097	-324	c.63 others(11): Show c.6384_*6707del	MTHFD2	ENSG00000065911.13	transcript	ENST00000394053.7	protein_coding		3061		chr2	TogoVar
MTMR7_chr8_17291794_17418351	17408092	CAAGAACA others(317): Show CAAGAACATCATGGAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGACCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCACCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00544.hp1 others(137): Show HG00099.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG02027.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18974.hp1 NA18978.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19054.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0002c0004 a0002c0015 a0003c0007 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(31): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0028 a0001c0001t0051 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0053 a0001c0002t0054 a0001c0003t0004 a0001c0003t0006 a0001c0003t0061 a0001c0003t0062 a0001c0005t0018 a0001c0009t0004 a0002c0004t0007 a0002c0004t0026 a0002c0015t0007 a0003c0007t0008 a0004c0006t0052	a0001c0001t0001g0210 a0001c0001t0003g0219 a0001c0001t0003g0220 others(137): Show a0001c0001t0001g0210 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0228 a0001c0001t0003g0233 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0264 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0279 a0001c0001t0003g0282 a0001c0001t0003g0292 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0305 a0001c0001t0003g0313 a0001c0001t0003g0320 a0001c0001t0003g0338 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0355 a0001c0001t0003g0357 a0001c0001t0003g0359 a0001c0001t0004g0241 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0267 a0001c0001t0004g0291 a0001c0001t0004g0324 a0001c0001t0004g0337 a0001c0001t0006g0231 a0001c0001t0006g0242 a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0006g0277 a0001c0001t0006g0309 a0001c0001t0006g0310 a0001c0001t0006g0314 a0001c0001t0008g0208 a0001c0001t0009g0009 a0001c0001t0011g0177 a0001c0001t0015g0275 a0001c0001t0015g0276 a0001c0001t0015g0280 a0001c0001t0015g0288 a0001c0001t0015g0293 a0001c0001t0015g0303 a0001c0001t0015g0304 a0001c0001t0015g0356 a0001c0001t0017g0217 a0001c0001t0017g0225 a0001c0001t0017g0245 a0001c0001t0017g0248 a0001c0001t0017g0318 a0001c0001t0017g0319 a0001c0001t0018g0266 a0001c0001t0018g0287 a0001c0001t0018g0312 a0001c0001t0018g0327 a0001c0001t0019g0283 a0001c0001t0019g0286 a0001c0001t0019g0301 a0001c0001t0019g0302 a0001c0001t0019g0308 a0001c0001t0020g0226 a0001c0001t0020g0227 a0001c0001t0020g0229 a0001c0001t0020g0249 a0001c0001t0027g0254 a0001c0001t0028g0001 a0001c0001t0051g0339 a0001c0001t0055g0263 a0001c0001t0057g0281 a0001c0001t0058g0330 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0003g0216 a0001c0002t0006g0234 a0001c0002t0006g0306 a0001c0002t0006g0307 a0001c0002t0006g0322 a0001c0002t0053g0244 a0001c0002t0054g0334 a0001c0003t0004g0222 a0001c0003t0004g0232 a0001c0003t0004g0243 a0001c0003t0004g0271 a0001c0003t0004g0272 a0001c0003t0004g0284 a0001c0003t0004g0289 a0001c0003t0004g0290 a0001c0003t0004g0317 a0001c0003t0004g0321 a0001c0003t0004g0323 a0001c0003t0004g0325 a0001c0003t0004g0328 a0001c0003t0004g0331 a0001c0003t0004g0332 a0001c0003t0004g0333 a0001c0003t0004g0335 a0001c0003t0004g0336 a0001c0003t0004g0340 a0001c0003t0006g0326 a0001c0003t0061g0218 a0001c0003t0062g0311 a0001c0005t0018g0265 a0001c0009t0004g0294 a0001c0009t0004g0299 a0001c0009t0004g0329 a0002c0004t0007g0223 a0002c0004t0007g0237 a0002c0004t0007g0250 a0002c0004t0007g0255 a0002c0004t0007g0256 a0002c0004t0007g0257 a0002c0004t0007g0258 a0002c0004t0007g0259 a0002c0004t0007g0260 a0002c0004t0007g0261 a0002c0004t0007g0262 a0002c0004t0007g0268 a0002c0004t0007g0285 a0002c0004t0007g0300 a0002c0004t0007g0315 a0002c0004t0007g0316 a0002c0004t0007g0358 a0002c0004t0026g0239 a0002c0004t0026g0240 a0002c0015t0007g0278 a0003c0007t0008g0209 a0004c0006t0052g0230	140	360	0.3889	-324	c.24+ others(15): Show c.24+4853_24+5176del	MTMR7	ENSG00000003987.14	transcript	ENST00000180173.10	protein_coding	1/13			chr8	TogoVar
MTUS2_chr13_28815339_29510947	29380620	TAAAAGAC others(317): Show TAAAAGACATCAGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(52): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01175.hp2 HG01346.hp1 HG01346.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG02055.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02258.hp2 HG02615.hp1 HG02717.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG04228.hp1 HG06807.hp1 NA18944.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19084.hp1 NA19084.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0015	a0001c0001 a0002c0002 a0003c0003 others(11): Show a0001c0001 a0002c0002 a0003c0003 a0003c0009 a0004c0008 a0004c0020 a0005c0007 a0006c0006 a0007c0004 a0008c0023 a0009c0022 a0010c0021 a0012c0013 a0015c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0003c0003t0004 a0003c0003t0008 a0003c0009t0029 a0004c0008t0001 a0004c0008t0009 a0004c0020t0001 a0005c0007t0002 a0006c0006t0002 a0006c0006t0005 a0006c0006t0009 a0007c0004t0001 a0007c0004t0002 a0007c0004t0006 a0008c0023t0022 a0009c0022t0007 a0010c0021t0008 a0012c0013t0002 a0015c0017t0001	a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 others(52): Show a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0002g0048 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0003g0038 a0001c0001t0003g0086 a0001c0001t0003g0091 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0005g0021 a0001c0001t0005g0031 a0001c0001t0007g0022 a0001c0001t0013g0073 a0001c0001t0016g0029 a0001c0001t0017g0025 a0001c0001t0030g0033 a0001c0001t0031g0032 a0001c0001t0032g0034 a0001c0001t0033g0087 a0002c0002t0003g0012 a0002c0002t0003g0063 a0002c0002t0004g0008 a0002c0002t0004g0058 a0002c0002t0008g0092 a0002c0002t0011g0064 a0002c0002t0012g0003 a0002c0002t0013g0011 a0003c0003t0004g0061 a0003c0003t0008g0069 a0003c0009t0029g0005 a0004c0008t0001g0007 a0004c0008t0009g0072 a0004c0020t0001g0017 a0005c0007t0002g0060 a0006c0006t0002g0049 a0006c0006t0005g0024 a0006c0006t0009g0089 a0007c0004t0001g0088 a0007c0004t0002g0013 a0007c0004t0006g0042 a0008c0023t0022g0053 a0009c0022t0007g0023 a0010c0021t0008g0051 a0012c0013t0002g0055 a0015c0017t0001g0006	55	92	0.5978	-324	c.311 others(21): Show c.3117+21162_3117+21485del	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MUC5AC_chr11_1152953_1206138	1154555	CTCACTCA others(317): Show CTCACTCACTCACCCACTCACTTATTCACTCACTCACCCACTCACTTATT CACCCATTCACTCATTCATTCACCCATTCACTCACTCACTTATTCACTCA CTCTCTCACTCATTCATTAATTCGCCCATTCACTCACACTTTCACTCACT CACTTATTCACTCATACACTCATTCACTTATTTACTCACTCATTCACTCA CTCATTAATTCACCCATTCACTCACTCACTTATTCACTCATAGACTCATA CACTCACTCATTCACTCACGCATCCACTCATTCACTCACTCATTTACCCA CTCACTCACTCACCCACTCACTTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0025 a0025	a0025c0033 a0025c0033	a0025c0033t0001 a0025c0033t0001	a0025c0033t0001g0035 a0025c0033t0001g0035	1	292	0.0034	-324	c.-34 others(11): Show c.-3444_-3121del	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding		3397		chr11	TogoVar
NEU4_chr2_241804193_241822413	241805930	GACCACCT others(317): Show GACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCA GCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0067 a0001c0004t0001g0067	1	319	0.0031	-324	c.-33 others(11): Show c.-3347_-3024del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3262		chr2	TogoVar
NLRP1_chr17_5509118_5589509	5561418	GCCATGTG others(317): Show GCCATGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCAGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(155): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19077.hp1 NA19081.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0020 a0021 a0025 a0026 a0027 a0029 a0032 a0033	a0001c0001 a0002c0003 a0002c0005 others(33): Show a0001c0001 a0002c0003 a0002c0005 a0002c0016 a0002c0022 a0002c0039 a0003c0004 a0003c0018 a0004c0006 a0004c0012 a0004c0020 a0005c0007 a0005c0017 a0006c0008 a0006c0037 a0006c0038 a0007c0009 a0009c0011 a0010c0013 a0011c0015 a0012c0014 a0013c0024 a0013c0031 a0014c0019 a0015c0021 a0016c0023 a0017c0052 a0019c0050 a0020c0030 a0021c0049 a0025c0028 a0026c0044 a0027c0045 a0029c0027 a0032c0047 a0033c0048	a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 others(38): Show a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 a0002c0016t0001 a0002c0022t0001 a0002c0022t0002 a0002c0039t0001 a0003c0004t0001 a0003c0018t0001 a0004c0006t0001 a0004c0012t0001 a0004c0020t0001 a0005c0007t0003 a0005c0007t0006 a0005c0017t0001 a0005c0017t0013 a0006c0008t0001 a0006c0037t0001 a0006c0038t0001 a0007c0009t0001 a0009c0011t0005 a0009c0011t0009 a0009c0011t0010 a0010c0013t0001 a0011c0015t0001 a0012c0014t0003 a0013c0024t0007 a0013c0031t0005 a0014c0019t0001 a0015c0021t0003 a0016c0023t0008 a0017c0052t0001 a0019c0050t0001 a0020c0030t0005 a0021c0049t0001 a0025c0028t0001 a0026c0044t0005 a0027c0045t0014 a0029c0027t0001 a0032c0047t0016 a0033c0048t0001	a0001c0001t0001g0007 a0001c0001t0001g0324 a0001c0001t0001g0325 others(152): Show a0001c0001t0001g0007 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0334 a0001c0001t0001g0338 a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0356 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0088 a0002c0003t0001g0089 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0095 a0002c0003t0001g0096 a0002c0003t0001g0097 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0117 a0002c0003t0001g0122 a0002c0003t0001g0123 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0005t0001g0326 a0002c0005t0001g0329 a0002c0005t0001g0331 a0002c0005t0001g0333 a0002c0005t0001g0335 a0002c0005t0001g0336 a0002c0005t0001g0337 a0002c0005t0001g0339 a0002c0005t0001g0340 a0002c0005t0001g0341 a0002c0005t0001g0342 a0002c0005t0001g0343 a0002c0005t0001g0344 a0002c0005t0001g0345 a0002c0005t0001g0357 a0002c0016t0001g0087 a0002c0016t0001g0090 a0002c0022t0001g0330 a0002c0022t0002g0377 a0002c0039t0001g0355 a0003c0004t0001g0291 a0003c0004t0001g0292 a0003c0004t0001g0294 a0003c0004t0001g0295 a0003c0004t0001g0297 a0003c0004t0001g0298 a0003c0004t0001g0299 a0003c0004t0001g0300 a0003c0004t0001g0301 a0003c0004t0001g0302 a0003c0004t0001g0303 a0003c0004t0001g0304 a0003c0004t0001g0305 a0003c0004t0001g0306 a0003c0004t0001g0307 a0003c0004t0001g0308 a0003c0004t0001g0309 a0003c0004t0001g0310 a0003c0004t0001g0359 a0003c0018t0001g0020 a0003c0018t0001g0114 a0004c0006t0001g0138 a0004c0006t0001g0263 a0004c0006t0001g0264 a0004c0006t0001g0265 a0004c0006t0001g0266 a0004c0006t0001g0267 a0004c0006t0001g0271 a0004c0006t0001g0273 a0004c0006t0001g0283 a0004c0006t0001g0285 a0004c0006t0001g0286 a0004c0006t0001g0287 a0004c0006t0001g0288 a0004c0012t0001g0251 a0004c0012t0001g0257 a0004c0012t0001g0258 a0004c0012t0001g0260 a0004c0020t0001g0250 a0004c0020t0001g0259 a0005c0007t0003g0013 a0005c0007t0006g0367 a0005c0017t0001g0094 a0005c0017t0013g0119 a0006c0008t0001g0268 a0006c0008t0001g0269 a0006c0008t0001g0270 a0006c0008t0001g0272 a0006c0008t0001g0274 a0006c0008t0001g0275 a0006c0008t0001g0276 a0006c0008t0001g0277 a0006c0008t0001g0278 a0006c0008t0001g0279 a0006c0008t0001g0281 a0006c0008t0001g0282 a0006c0037t0001g0284 a0006c0038t0001g0280 a0007c0009t0001g0293 a0007c0009t0001g0311 a0007c0009t0001g0312 a0007c0009t0001g0313 a0007c0009t0001g0314 a0007c0009t0001g0315 a0007c0009t0001g0316 a0007c0009t0001g0317 a0007c0009t0001g0318 a0007c0009t0001g0319 a0007c0009t0001g0320 a0007c0009t0001g0321 a0009c0011t0005g0252 a0009c0011t0005g0253 a0009c0011t0005g0254 a0009c0011t0009g0008 a0009c0011t0010g0009 a0010c0013t0001g0261 a0010c0013t0001g0262 a0010c0013t0001g0289 a0010c0013t0001g0290 a0011c0015t0001g0155 a0011c0015t0001g0156 a0011c0015t0001g0157 a0011c0015t0001g0159 a0012c0014t0003g0001 a0012c0014t0003g0012 a0013c0024t0007g0390 a0013c0024t0007g0391 a0013c0031t0005g0116 a0014c0019t0001g0255 a0014c0019t0001g0256 a0015c0021t0003g0014 a0015c0021t0003g0015 a0016c0023t0008g0394 a0016c0023t0008g0395 a0017c0052t0001g0363 a0019c0050t0001g0362 a0020c0030t0005g0115 a0021c0049t0001g0351 a0025c0028t0001g0120 a0026c0044t0005g0144 a0027c0045t0014g0352 a0029c0027t0001g0077 a0032c0047t0016g0364 a0033c0048t0001g0332	158	404	0.3911	-324	c.653 others(17): Show c.653-1699_653-1376del	NLRP1	ENSG00000091592.17	transcript	ENST00000572272.6	protein_coding	3/16			chr17	TogoVar
PADI1_chr1_17200128_17251007	17241623	GATGGAAT others(317): Show GATGGAATCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGT TGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAAAGTC GGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGA ATCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAG TGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTCGGAATC GGGATGGAATCAGGGTTGCAAGTGAATGTCGGAATCGGCATGGAATCAGG GTTGGAAGTGAATGTCGGAATCGGC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 NA19030.hp1 HG02258.hp2 HG02615.hp2 NA19030.hp1	a0002 a0008 a0002 a0008	a0002c0007 a0008c0025 a0002c0007 a0008c0025	a0002c0007t0001 a0008c0025t0001 a0002c0007t0001 a0008c0025t0001	a0002c0007t0001g0091 a0002c0007t0001g0287 a0008c0025t0001g0042 a0002c0007t0001g0091 a0002c0007t0001g0287 a0008c0025t0001g0042	3	406	0.0074	-324	c.175 others(18): Show c.1758+897_1758+1220del	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAN3_chr13_28133545_28300335	28265719	GTTTTTTT others(317): Show GTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGGTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02109.hp2 others(8): Show HG01109.hp2 HG01891.hp1 HG02109.hp2 HG02602.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03195.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0028 a0001c0001t0033 a0001c0001t0043	a0001c0001t0001g0129 a0001c0001t0004g0059 a0001c0001t0009g0160 others(8): Show a0001c0001t0001g0129 a0001c0001t0004g0059 a0001c0001t0009g0160 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0124 a0001c0001t0010g0126 a0001c0001t0010g0152 a0001c0001t0028g0125 a0001c0001t0033g0123 a0001c0001t0043g0252	11	252	0.0437	-324	c.141 others(17): Show c.1412-984_1412-661del	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCMTD2_chr20_64250748_64281226	64271037	TACGTACA others(317): Show TACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTTCGTT GTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTT CGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGG TGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGT GAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGC ATGTGAGGTGTTCGTTGTGAGACGTACAATGGTACAGTCCTTCTGAGGAA GGGCATGTGAGGTGTTCGTTGTGAG	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	332	0.0030	-324	c.707 others(17): Show c.707-2130_707-1807del	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLD5_chr1_242077986_242529697	242393760	GTATATAA others(317): Show GTATATAAGTATTTTTAGGCAGGGCCGCAGTGGCTCACGCCTGTATTCTC AGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGAAGTCAGGAGTTCGA GACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAA ATTAGCTGGGTGTGGGGGTGCGTGCCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATCACTTGAACCCGGAAGGCGGAGGTTGCAGTGAGCTG AGATCACGCCACTGAACTCCAGCCTGGATAAGACGACGACTCCATCTCAA AAAAAAACATATATATATATGAGTA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18970.hp2 HG02027.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0074 a0001c0001t0010 a0001c0002t0074	a0001c0001t0010g0084 a0001c0002t0074g0163 a0001c0001t0010g0084 a0001c0002t0074g0163	2	188	0.0106	-324	c.190 others(19): Show c.190-45842_190-45519del	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
POLE_chr12_132618762_132692342	132684746	GAGAGCTA others(317): Show GAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACA CAGGCTCTCATTCACAGAGCTACCATTGACTGGTTACTATATCACACCGT CCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGT TACTATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGA GCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGG CTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACAATCC CAGTACTCCACAGGCTCTCATTCAC	G G	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19082.hp2 NA19060.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0056 a0001c0001t0001g0057	2	292	0.0069	-324	c.62+ others(15): Show c.62+2184_62+2507del	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	1/48			chr12	TogoVar
PRKCZ_chr1_2045411_2190395	2122535	GGTGGTGG others(317): Show GGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTG TGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTT GTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGT GGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGTGG TTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTT AGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGT GGTTAGGGTTGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0007 a0001c0004t0001g0007	1	286	0.0035	-324	c.335 others(19): Show c.335-12693_335-12370del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PSMD1_chr2_231051867_231177827	231131462	TAGAAAGT others(317): Show TAGAAAGTTTTTTTGCCCTTGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGGTCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(255): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0004 a0001c0005t0001 a0002c0003t0003 a0003c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(247): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0130 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 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 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 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 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0002g0267 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0344 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0005g0120 a0001c0001t0006g0278 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0027 a0001c0005t0001g0028 a0002c0003t0003g0155 a0003c0007t0001g0238	258	364	0.7088	-324	c.188 others(19): Show c.1884-7254_1884-6931del	PSMD1	ENSG00000173692.14	transcript	ENST00000308696.11	protein_coding	16/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
PXMP2_chr12_132682587_132709985	132684746	GAGAGCTA others(317): Show GAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACA CAGGCTCTCATTCACAGAGCTACCATTGACTGGTTACTATATCACACCGT CCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGT TACTATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGA GCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGG CTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACAATCC CAGTACTCCACAGGCTCTCATTCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	350	0.0029	-324	c.-29 others(11): Show c.-2924_-2601del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding		2840		chr12	TogoVar
RAPGEF4_chr2_172730845_173057893	173024192	TTGCTACA others(317): Show TTGCTACAGCACTTCTTTTTTTTATTATTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01109.hp1 others(8): Show HG00558.hp1 HG00642.hp1 HG01109.hp1 HG01361.hp1 HG01981.hp2 HG03490.hp1 HG03492.hp1 HG04204.hp2 NA18948.hp2 NA18952.hp2 NA18993.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0017 a0001c0001 a0006c0017	a0001c0001t0001 a0001c0001t0002 a0006c0017t0001 a0001c0001t0001 a0001c0001t0002 a0006c0017t0001	a0001c0001t0001g0012 a0001c0001t0001g0053 a0001c0001t0001g0070 others(8): Show a0001c0001t0001g0012 a0001c0001t0001g0053 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0002g0036 a0001c0001t0002g0037 a0006c0017t0001g0100	11	178	0.0618	-324	c.225 others(19): Show c.2254-2375_2254-2052del	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
RASA3_chr13_113972783_114137623	114075528	GGTGTGGA others(317): Show GGTGTGGAGGCGCCGGCAGGACGAAGCCTCCCGTGTCCGCGCCGCGTATC TCTGCGTGTGGAGGCGCCGGCAGGACGAAGCCTCCCGTGTCCGCACCGCG TATCTCTGCGTGTGGAGGCGCCGGCAGGACGAAGCCTCCCGTGTCCGCAC CGCGTATCTCTGCGTGTGGAGGCGCCGGCAGGACGAAGCCGCCCGTGTCG GCGCCGCGTATCTCTGGGTGTGGAGGCGCCGGCAGGACGAAGCCTCCCGT GTCCGCGCCGCGTATCTCTGCGTGTGGAGGCGCCGGCAGGACGAAGCCTC CCGTGTCGGCGCCGCGTATCTCTAC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01993.hp1 HG01993.hp2 others(3): Show HG01361.hp2 HG01993.hp1 HG01993.hp2 HG02148.hp2 NA18954.hp2 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 others(3): Show a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0030	6	67	0.0896	-324	c.56- others(15): Show c.56-2015_56-1692del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114083753	GTCCTCGC others(317): Show GTCCTCGCGGGGAAATCACGGGGAAGTGGTGAGTCTGGAGTATCGACTCC CTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	67	0.0149	-324	c.56- others(16): Show c.56-10240_56-9917del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114083889	CTGAGTCT others(317): Show CTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGA AGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCG GGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAAT CCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGG AAATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGC GGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCC TCGCGGGGAAATCCCGGGGAAGTGG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0001 a0002c0004t0004g0001	1	67	0.0149	-324	c.56- others(17): Show c.56-10376_56-10053del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114085049	GTCCTCGC others(317): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG04115.hp2 HG02300.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0006 a0001c0010t0002 a0001c0001t0006 a0001c0010t0002	a0001c0001t0006g0011 a0001c0010t0002g0052 a0001c0001t0006g0011 a0001c0010t0002g0052	2	67	0.0299	-324	c.56- others(17): Show c.56-11536_56-11213del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114085427	CTCCTCGC others(317): Show CTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp2 NA18945.hp2 others(1): Show HG02723.hp2 HG03471.hp2 NA18945.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0051 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0051 a0001c0002t0002g0036	4	67	0.0597	-324	c.56- others(17): Show c.56-11914_56-11591del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar

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Search Results (Total: 10000 hits)