Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PLEKHG4B_chr5_87168_194966	166013	G G	AGCTCACA others(277): Show AGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACG GGGCGGGGCTCACACTAATGCTGTGACAGGGGTCGGAGCTCACACAGTAA TGCTGTGACGGGGCAGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CACTAATGCTCTGACGGGGCGGGGCTCACAGTACTCCTCTGACGGGGCGG AGCTCACACTAATGCTCTGACGGGGTGGAGCTCACACTAATGCTCTGACG GGGCGGAGCTCACACTAATGCTCTGACGGGGCGGG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0057 a0011c0021t0057	a0011c0021t0057g0197 a0011c0021t0057g0197	1	210	0.0048	284	c.347 others(303): Show c.3476+2464_3476+2465insAGCTCACACTAATGCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTGTGA CAGGGGTCGGAGCTCACACAGTAATGCTGTGACGGGGCAGAGCTCACACT AATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCT CACAGTACTCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGT GGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGA CGGGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19			chr5	TogoVar
PLEKHN1_chr1_961482_980865	977787	C C	CCACCAAC others(277): Show CCACCAACCCCGGGAACCGCCTCCCACTCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCG CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0001 a0001c0001t0015g0001	1	422	0.0024	284	c.32 others(295): Show c.3212_*3213insCACCAACCCCGGGAACCGCCTCCCACTCCCCCGC AACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1923		chr1	TogoVar
PLPP2_chr19_276043_296403	282387	G G	GTGCACCT others(277): Show GTGCACCTGCCAGGCGCTCCCCCTCCCCCTGCACAGACGTGTTAGCCTTG CGCCTGCCAGGCGCTCCCCCTCCCCCTGCACAGACGTGTTAGCCTTGCGC CTGCCAGGCGCTCCCCCTCCCCCTGCACAGACGTGTTAGCCTGTGCACCT GCCAGGCGCTCCCCCTCCCCCTGCACAGACGTGTTAGCCTGTGCACCTGC CAGGCGCTCCCCCTCCCCCTGCACAGACGTGTTAGCCTTGCGCCTGCCAG GCGCTCCCCCTCCCCCTGCACAGACGTGTTAGCCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	354	0.0028	284	c.541 others(297): Show c.541-78_541-77insAGGCTAACACGTCTGTGCAGGGGGAGGGGGAG CGCCTGGCAGGCGCAAGGCTAACACGTCTGTGCAGGGGGAGGGGGAGCGC CTGGCAGGTGCACAGGCTAACACGTCTGTGCAGGGGGAGGGGGAGCGCCT GGCAGGTGCACAGGCTAACACGTCTGTGCAGGGGGAGGGGGAGCGCCTGG CAGGCGCAAGGCTAACACGTCTGTGCAGGGGGAGGGGGAGCGCCTGGCAG GCGCAAGGCTAACACGTCTGTGCAGGGGGAGGGGGAGCGCCTGGCAGGTG CA	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding	4/5			chr19	TogoVar
PLPP2_chr19_276043_296403	282449	C C	CGCTCCCC others(277): Show CGCTCCCCCCTCCCCCTGCACAGACGTGTTAGCCTTGCGCCTGCCAGGCG CTCCCCCTCCCCCTGCACAGACGTGTTAGCCTTGCGCCTGCCAGGCGCTC CCCCTCCCCCTGCACAGACGTGTTAGCCTTGCGCCTGCCAGGTGCTCCCC CCTCCCCCTGCACAGACGTGTTAGCCTTGCGCCTGCCAGGCGCTCCCCCT CCCCCTGCACAGACGTGTTAGCCTTGCGCCTGCCAGGCGCTCCCCCTCCC CCTGCACAGACGTGTTAGCCTTGCGCCTGCCAGGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	354	0.0028	284	c.541 others(299): Show c.541-140_541-139insACCTGGCAGGCGCAAGGCTAACACGTCTGT GCAGGGGGAGGGGGAGCGCCTGGCAGGCGCAAGGCTAACACGTCTGTGCA GGGGGAGGGGGAGCGCCTGGCAGGCGCAAGGCTAACACGTCTGTGCAGGG GGAGGGGGGAGCACCTGGCAGGCGCAAGGCTAACACGTCTGTGCAGGGGG AGGGGGAGCGCCTGGCAGGCGCAAGGCTAACACGTCTGTGCAGGGGGAGG GGGAGCGCCTGGCAGGCGCAAGGCTAACACGTCTGTGCAGGGGGAGGGGG GAGC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding	4/5			chr19	TogoVar
PLPP2_chr19_276043_296403	291551	A A	AGGGGAGG others(277): Show AGGGGAGGGGAGGAGGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGG CGGGGCGGGGAGGGGAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGAG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGG CGGGCAGGGGAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGG GGAGGGAGGGGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGG ACGGCAGCGGCGGGCAGGGGAGCAGCGGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0045 a0002c0002t0003g0045	2	354	0.0057	284	c.-21 others(293): Show c.-216_-215insGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTC CCCGCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCC CTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCGC CGCTGCCGTCCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCC TCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGC CCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTCCTCCCCTCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		149		chr19	TogoVar
POLG_chr15_89311320_89339824	89325249	A A	AGTGAGTG others(277): Show AGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAG TGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGTGAGTGAGAGAG TGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTG AGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0189 a0001c0013t0001g0189	1	398	0.0025	284	c.194 others(301): Show c.1949+200_1949+201insACTCACTCTCTCACTCACTCACTCTCTC ACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCTC TCACTCACTCTCTCACTCACTCTCACTCACTCACTCTCTCACTCACTCAC TCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCACTC TCTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCTC TCACTCACTCTCTCACTCACTCACTCACTCACTCACTCACTCACTCTCTC ACTCAC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPP1R12C_chr19_55085918_55122637	55096807	A A	ACCCCTTC others(277): Show ACCCCTTCCCCGCGCAGTTCACCACCGTCTTCGCCCCTTCCCCGCGCAGT TCACCACCGTCTTCGCCCCTTCCCCGCGCAGTTCACCACCGTCTTCGCCC CTTCCCCGCGCAGTTCACCACCGTCTTCGCCCCTTCCCCGCGCAGTTCAC CACCGTCTTCGCCCCTTCCCCGCAGTTCACCACCGTCTTCACACCTTCCC CGCAGTTCACCACCGTCTTCGCCCCTTCCCCGCGCAGTTCACCACCGTCT TCACCCCTTCCCCGCGCAGTTCACCACCGTCTTCG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	390	0.0026	284	c.952 others(299): Show c.952-473_952-472insCGAAGACGGTGGTGAACTGCGCGGGGAAGG GGTGAAGACGGTGGTGAACTGCGCGGGGAAGGGGCGAAGACGGTGGTGAA CTGCGGGGAAGGTGTGAAGACGGTGGTGAACTGCGGGGAAGGGGCGAAGA CGGTGGTGAACTGCGCGGGGAAGGGGCGAAGACGGTGGTGAACTGCGCGG GGAAGGGGCGAAGACGGTGGTGAACTGCGCGGGGAAGGGGCGAAGACGGT GGTGAACTGCGCGGGGAAGGGGCGAAGACGGTGGTGAACTGCGCGGGGAA GGGG	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21			chr19	TogoVar
PPP1R9A_chr7_94902594_95301400	95248186	T T	TTAAAAAT others(277): Show TTAAAAATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0062 a0008c0011t0001g0062	1	290	0.0035	284	c.216 others(301): Show c.2166+671_2166+672insATATATTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAATAAAA ATATAT	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP1R9A_chr7_94902594_95301400	95248186	T T	TTAAAAAT others(277): Show TTAAAAATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01074.hp1 HG01169.hp1 others(12): Show HG00558.hp1 HG01074.hp1 HG01169.hp1 HG02027.hp1 HG02523.hp1 HG02572.hp2 HG02622.hp1 HG02818.hp2 HG03239.hp2 NA18942.hp1 NA18952.hp1 NA18961.hp2 NA18966.hp1 NA18971.hp2 NA19077.hp2	a0002 a0006 a0008 a0002 a0006 a0008	a0002c0001 a0006c0007 a0008c0011 a0002c0001 a0006c0007 a0008c0011	a0002c0001t0004 a0002c0001t0007 a0002c0001t0010 others(5): Show a0002c0001t0004 a0002c0001t0007 a0002c0001t0010 a0002c0001t0025 a0002c0001t0027 a0002c0001t0044 a0006c0007t0004 a0008c0011t0001	a0002c0001t0004g0121 a0002c0001t0004g0140 a0002c0001t0004g0152 others(12): Show a0002c0001t0004g0121 a0002c0001t0004g0140 a0002c0001t0004g0152 a0002c0001t0007g0082 a0002c0001t0007g0083 a0002c0001t0010g0030 a0002c0001t0010g0031 a0002c0001t0010g0033 a0002c0001t0025g0073 a0002c0001t0025g0074 a0002c0001t0027g0001 a0002c0001t0044g0144 a0006c0007t0004g0215 a0008c0011t0001g0018 a0008c0011t0001g0048	15	290	0.0517	284	c.216 others(301): Show c.2166+671_2166+672insATATTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAATAAAA ATATAT	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP1R9A_chr7_94902594_95301400	95248186	T T	TTAAAAAT others(277): Show TTAAAAATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG01106.hp1 others(39): Show HG00408.hp1 HG00673.hp1 HG01106.hp1 HG01123.hp2 HG01496.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02083.hp2 HG02165.hp2 HG03139.hp2 HG03239.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG04184.hp1 HG04204.hp1 NA18939.hp2 NA18944.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp1 NA18967.hp1 NA18970.hp1 NA18975.hp1 NA18984.hp2 NA18985.hp2 NA18995.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19043.hp2 NA19056.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0008 a0015 a0018	a0001c0002 a0002c0001 a0002c0017 others(4): Show a0001c0002 a0002c0001 a0002c0017 a0006c0007 a0008c0011 a0015c0028 a0018c0029	a0001c0002t0017 a0002c0001t0001 a0002c0001t0003 others(17): Show a0001c0002t0017 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0002c0001t0007 a0002c0001t0010 a0002c0001t0014 a0002c0001t0018 a0002c0001t0026 a0002c0001t0027 a0002c0001t0045 a0002c0001t0048 a0002c0001t0050 a0002c0017t0004 a0006c0007t0004 a0006c0007t0007 a0006c0007t0018 a0008c0011t0001 a0015c0028t0001 a0018c0029t0007	a0001c0002t0017g0003 a0002c0001t0001g0070 a0002c0001t0003g0069 others(39): Show a0001c0002t0017g0003 a0002c0001t0001g0070 a0002c0001t0003g0069 a0002c0001t0004g0004 a0002c0001t0004g0046 a0002c0001t0004g0047 a0002c0001t0004g0049 a0002c0001t0004g0050 a0002c0001t0004g0053 a0002c0001t0004g0057 a0002c0001t0004g0061 a0002c0001t0004g0068 a0002c0001t0004g0071 a0002c0001t0004g0076 a0002c0001t0004g0077 a0002c0001t0004g0092 a0002c0001t0004g0118 a0002c0001t0004g0151 a0002c0001t0007g0058 a0002c0001t0007g0113 a0002c0001t0010g0034 a0002c0001t0014g0065 a0002c0001t0018g0072 a0002c0001t0026g0087 a0002c0001t0026g0129 a0002c0001t0027g0063 a0002c0001t0045g0088 a0002c0001t0048g0032 a0002c0001t0050g0075 a0002c0017t0004g0211 a0002c0017t0004g0290 a0006c0007t0004g0177 a0006c0007t0004g0217 a0006c0007t0004g0229 a0006c0007t0004g0245 a0006c0007t0007g0171 a0006c0007t0007g0209 a0006c0007t0018g0210 a0008c0011t0001g0066 a0008c0011t0001g0067 a0015c0028t0001g0166 a0018c0029t0007g0234	42	290	0.1448	284	c.216 others(301): Show c.2166+671_2166+672insATTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAATAAAA ATATAT	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP1R9A_chr7_94902594_95301400	95248186	T T	TTAAAAAT others(277): Show TTAAAAATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0011 a0006c0007t0011	a0006c0007t0011g0191 a0006c0007t0011g0191	1	290	0.0035	284	c.216 others(301): Show c.2166+674_2166+675insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAATAAAAATA TATTTT	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP6R2_chr22_50338327_50450090	50397569	C C	CTGTCATC others(277): Show CTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC AGGGGGGCCTGTCTTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19084.hp1 NA19005.hp2 NA19084.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0187 a0001c0003t0002g0196 a0001c0003t0002g0187 a0001c0003t0002g0196	2	340	0.0059	284	c.227 others(301): Show c.227+3441_227+3442insCCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGGCCTGTCTTCACCAGCCTTGTCATCTCTGA GTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTT GTCATC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM16_chr1_3064203_3443621	3163225	G G	GCGCAGAA others(277): Show GCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGC GCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGC AGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGC CCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCC CTGGCATGGTCTAGAAGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCT GGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0170 a0001c0001t0076g0170	1	210	0.0048	284	c.38- others(301): Show c.38-22805_38-22804insGCGCAGAAGCCCCCGGCTCTAGAGGGCT TTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTT GGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAAGGCTTTGG GAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGA GAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGA GGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGG GGATGT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3163225	G G	GCGCAGAA others(277): Show GCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGC GCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGC AGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGC CCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCC CTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCT GGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(39): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01123.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG02004.hp2 HG02056.hp2 HG02109.hp1 HG02273.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG03654.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA19043.hp2 NA19074.hp2 NA19091.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0001c0014 a0001c0021 a0001c0031 a0002c0003 a0002c0007 a0003c0005 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0028 a0001c0001t0058 a0001c0002t0001 a0001c0002t0003 a0001c0002t0016 a0001c0002t0017 a0001c0002t0036 a0001c0002t0084 a0001c0004t0007 a0001c0004t0010 a0001c0006t0011 a0001c0006t0013 a0001c0009t0005 a0001c0014t0030 a0001c0014t0068 a0001c0021t0049 a0001c0031t0037 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0006 a0002c0003t0013 a0002c0003t0051 a0002c0007t0019 a0003c0005t0009 a0003c0011t0001	a0001c0001t0001g0119 a0001c0001t0001g0175 a0001c0001t0001g0183 others(39): Show a0001c0001t0001g0119 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0002g0086 a0001c0001t0002g0176 a0001c0001t0004g0046 a0001c0001t0006g0155 a0001c0001t0007g0054 a0001c0001t0012g0041 a0001c0001t0014g0132 a0001c0001t0016g0035 a0001c0001t0018g0164 a0001c0001t0022g0061 a0001c0001t0028g0111 a0001c0001t0058g0043 a0001c0002t0001g0095 a0001c0002t0001g0116 a0001c0002t0003g0147 a0001c0002t0016g0195 a0001c0002t0017g0177 a0001c0002t0036g0157 a0001c0002t0084g0138 a0001c0004t0007g0063 a0001c0004t0010g0032 a0001c0006t0011g0065 a0001c0006t0013g0133 a0001c0009t0005g0200 a0001c0014t0030g0178 a0001c0014t0068g0159 a0001c0021t0049g0023 a0001c0031t0037g0156 a0002c0003t0001g0018 a0002c0003t0002g0102 a0002c0003t0004g0123 a0002c0003t0006g0050 a0002c0003t0013g0137 a0002c0003t0051g0079 a0002c0007t0019g0020 a0003c0005t0009g0136 a0003c0011t0001g0056 a0003c0011t0001g0057	42	210	0.2000	284	c.38- others(301): Show c.38-22805_38-22804insGCGCAGAAGCCCCCGGCTCTAGAGGGCT TTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTT GGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGG GAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGA GAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGA GGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGG GGATGT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3163225	G G	GCGCAGAA others(277): Show GCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGC GCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGC AGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGTGCAGAAGC CCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCC CTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCT GGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0081 a0001c0004t0081	a0001c0004t0081g0031 a0001c0004t0081g0031	1	210	0.0048	284	c.38- others(301): Show c.38-22805_38-22804insGCGCAGAAGCCCCCGGCTCTAGAGGGCT TTGGGAGAGGGGATGTGTGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTT GGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGG GAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGA GAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGA GGGGATGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGG GGATGT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3163322	C C	CGCAGAAG others(277): Show CGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGA AGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAG CCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCC CCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCC TGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTG GCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19080.hp1 HG02132.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0005 a0001c0001t0023	a0001c0001t0005g0184 a0001c0001t0023g0112 a0001c0001t0005g0184 a0001c0001t0023g0112	2	210	0.0095	284	c.38- others(301): Show c.38-22792_38-22791insCGGCTCTAGAGGGCTTTGGGAGAGGGGA TGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATG TGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTC CGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCG CAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCA GAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGTGCAGA AGCCCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PROZ_chr13_113153648_113177386	113154196	G G	GAGGAGGG others(277): Show GAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACG CAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGG GCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTC GGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGG GGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 NA18973.hp2 HG02602.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0254 a0001c0001t0002g0015 a0001c0001t0002g0254	2	378	0.0053	284	c.-44 others(295): Show c.-4465_-4464insAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGG CAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGT GGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGG GAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4451		chr13	TogoVar
PROZ_chr13_113153648_113177386	113154196	G G	GAGGCGGG others(277): Show GAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGG GCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGG GCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTC GGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGG GGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG02080.hp2 HG03491.hp2 others(3): Show HG01952.hp2 HG02080.hp2 HG03491.hp2 HG04115.hp1 HG04228.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0236 a0001c0001t0002g0245 others(3): Show a0001c0001t0002g0041 a0001c0001t0002g0236 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0256 a0001c0001t0002g0266	6	378	0.0159	284	c.-44 others(295): Show c.-4465_-4464insAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGC GGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGT GGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGG GAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4451		chr13	TogoVar
PROZ_chr13_113153648_113177386	113154196	G G	GAGGCGGG others(277): Show GAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGG GCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCG TGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGG GGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG04228.hp1 NA18946.hp2 HG02135.hp2 HG04228.hp1 NA18946.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0002 a0006c0010t0002 a0001c0001t0002 a0006c0010t0002	a0001c0001t0002g0235 a0001c0001t0002g0250 a0006c0010t0002g0243 a0001c0001t0002g0235 a0001c0001t0002g0250 a0006c0010t0002g0243	3	378	0.0079	284	c.-44 others(295): Show c.-4465_-4464insAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGC GGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGT GGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGT GACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4451		chr13	TogoVar
RAI14_chr5_34651328_34837612	34665041	A A	ATATGTGT others(277): Show ATATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGT ATATATATATGTGTATATATATATGTGTATATATATGTGTATATATATGT GTATATATATGTGTATATATATGTGTATATATATGTGTATATATATATGT GTATATATATGTGTATATATATGTGTATATATATGTGTATATATATGTGT GTATATATATGTGTATATATATATGTGTATATATATATATGTGTATATAT ATATGTGTATATATATATGTGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03139.hp2 HG02886.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0009 a0001c0001t0007 a0001c0003t0009	a0001c0001t0007g0029 a0001c0003t0009g0028 a0001c0001t0007g0029 a0001c0003t0009g0028	2	254	0.0079	284	c.-49 others(301): Show c.-49+8567_-49+8568insATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATGTGTATATATATGTGTATATATATGTGTATATATATGTGTATAT ATATGTGTATATATATATGTGTATATATATGTGTATATATATGTGTATAT ATATGTGTATATATATGTGTGTATATATATGTGTATATATATATGTGTAT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATATGT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA3_chr13_113972783_114137623	114044176	C C	CCCCCCCC others(277): Show CCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCGCCCCGCCTCACTC GCTGAGCTCCCCCCGCCGCCTCACTCGCTGAGCTCCCCCCCGCCTCACTC GCTGAGCCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCCCGCCTCACTCG CTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACT CGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCGCCTCACT CGCTGAGCCCCCCGCCCTGCCTCACTCGCTGAGCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0052 a0001c0014t0002g0052	1	67	0.0149	284	c.278 others(301): Show c.278-3083_278-3082insAGCTCAGCGAGTGAGGCAGGGCGGGGGG CTCAGCGAGTGAGGCGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGG CTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGG GGCTCAGCGAGTGAGGCGGGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGG GCTCAGCGAGTGAGGCGGGGGGGAGCTCAGCGAGTGAGGCGGCGGGGGGA GCTCAGCGAGTGAGGCGGGGCGGGGGGAGCTCAGCGAGTGAGGCGGGGCG GGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(277): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCC GTCCCCATCCCCCGTCCCCCATCCCCATCCCCCGTCCCCATCCCCCATCC CCCGTCCCCCGTCCCCCGTCCCCATCCCCCGTCCCCCATCCCCATCCCCC GTCCCCCGTCCCCCATCTTCTGTCCCCCGTCCCCCACCCCCCCGCCCCCC ATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGT CCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0217 a0001c0001t0023g0217	1	452	0.0022	284	c.757 others(299): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCCGTCCCCATCCCCCGTCCCCCATCCCCATCCCCCGT CCCCATCCCCCATCCCCCGTCCCCCGTCCCCCGTCCCCATCCCCCGTCCC CCATCCCCATCCCCCGTCCCCCGTCCCCCATCTTCTGTCCCCCGTCCCCC ACCCCCCCGCCCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCG TCCCCCATCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACC CCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBM33_chr7_155639661_155786480	155673533	T T	TATACATA others(277): Show TATACATACACACGTGTATATATATACACGCATATACATACACACGTGTA TATATATACACGCATATACATACACACGTGTATATATATACACGCATATA CATACACACGTGTATATATATACACGCATATACATACACACGTGTATATA TATACACGCATATACATACACACGTGTATATATATACACGCATATACATA CACACGTGTATATATATACACGCATATACATACACACGTGTATATATATA CACGCATATACATACACGTGTATATATATACACGC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0098 a0001c0003t0098	a0001c0003t0098g0264 a0001c0003t0098g0264	1	306	0.0033	284	c.171 others(299): Show c.171+621_171+622insCATACACACGTGTATATATATACACGCATA TACATACACACGTGTATATATATACACGCATATACATACACACGTGTATA TATATACACGCATATACATACACACGTGTATATATATACACGCATATACA TACACACGTGTATATATATACACGCATATACATACACACGTGTATATATA TACACGCATATACATACACACGTGTATATATATACACGCATATACATACA CACGTGTATATATATACACGCATATACATACACGTGTATATATATACACG CATA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RER1_chr1_2386841_2410436	2401350	T T	TCCCTCCC others(277): Show TCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCT CCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTC CCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCC TCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCC TTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCC TCCTTCCTCCCTCCTCCTCCCTCCTTCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	354	0.0028	284	c.365 others(299): Show c.365+415_365+416insCCCTCCCTCCTCCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCC CTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCT TCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCT CCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTC CTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTTCCTCC CTCC	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6			chr1	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(277): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTATGTG TATGCATACGTATGTATGTATGTGTATGCATACGTATGTATGTATGTGTA TACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CGTATGTATGTGTACACATACATACGTATGTATGTGTACACATACGTATG TATGTGTACACATACGTATGTATGTGTACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	452	0.0022	284	c.-23 others(295): Show c.-2310_-2309insGTATGTGTACACATACATACGTATGTGTACACAT ACATACGTATGTGTACACATACATACGTATGTATGTGTACACATACATAC GTATGTATACACATACATACGTATGTATACACATACATACATACGTATGT ATACACATACATACATACGTATGCATACACATACATACATACGTATGCAT ACACATACATACATACGTATGCATACACATACATATGTATGCATACACAT ACATATGTATGCATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(277): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTGTATACATACATATGTATGTATGTGTA TACATACGTATGTATGTGTATACATACATACGTATGTATGTGTACACATA CGTATGTATGTGTACACATACATATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 NA19054.hp2 HG02027.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	452	0.0044	284	c.-23 others(295): Show c.-2328_-2327insGTACACATACATATGTATGTGTACACATACATAC GTATGTGTACACATACATACGTATGTATGTATACACATACATACGTATGT ATACACATACATACATATGTATGTATACACATACATACGTATGTATACAC ATACATACATACGTATGTATACACATACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGCATACACATAC ATATGTATGCATACACATACATATGTATGCATACACATACATATGTATGC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759523	G G	GTATGTGT others(277): Show GTATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTGTAT GCATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATAC ATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATACAT ATGTATGTATGTGTATACATACGTATGTATGTGTATACATACATACGTAT GTATGTGTACACATACGTATGTATGTGTACACATACATATGTATGTATGT GTACACATACATATGTATGTATGTGTACACATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	284	c.-23 others(295): Show c.-2339_-2338insTGTATGTGTACACATACATACATATGTATGTGTA CACATACATACATATGTATGTGTACACATACATACGTATGTGTACACATA CATACGTATGTATGTATACACATACATACGTATGTATACACATACATACA TATGTATGTATACACATACATACGTATGTATACACATACATACATACGTA TGTATACACATACATACATACGTATGTATACACATACATACATACGTATG CATACACATACATATGTATGCATACACATACATATGTATGCATACACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2114		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759586	C C	CATACGTA others(277): Show CATACGTATGTATGTGTATACATACATACGTATGTATGTGTACACATACG TATGTATGTGTATACATACATACGTATGTATGTGTACACATACGTATGTA TGTGTACACATACATACGTATGTATGTGTACACATACGTATGTATGTGTA CACATACATACGTATGTATGTGTACACATACATAGGTATGTGTACACATA CATACGTATGTATGTGTACACATACATACGTATGTATGTGTACACATACA TATGTATGTATGTGTACACATACGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	284	c.-24 others(295): Show c.-2402_-2401insACACATACATACGTATGTGTACACATACATACAT ATGTATGTGTACACATACATACGTATGTATGTGTACACATACATACGTAT GTATGTGTACACATACCTATGTATGTGTACACATACATACGTATGTATGT GTACACATACATACGTATGTGTACACATACATACGTATGTATGTGTACAC ATACATACGTATGTGTACACATACATACGTATGTATGTATACACATACAT ACGTATGTGTACACATACATACGTATGTATGTATACACATACATACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2177		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759610	C C	CATACGTA others(277): Show CATACGTATGTATGTGTATACATACATATGTATGTATGTGTACACATACG TATGTATGTGTATACATACATATGTATGTATGTGTACACATACGTATGTA TGTGTACACATACATATGTATGTATGTGTACACATACATATGTATGTGTA CACATACATATGTATGTATGTGTACACATACATATGTATGTGTACACATA CATATGTATGTATGTGTACACATACATATGTATGTATGTGTACACATACA TACGTATGTATGTGTATACATACGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	284	c.-24 others(295): Show c.-2426_-2425insACACATACATACGTATGTATACACATACATACGT ATGTATGTGTACACATACATACATATGTATGTGTACACATACATACATAT GTATGTGTACACATACATATGTATGTGTACACATACATACATATGTATGT GTACACATACATATGTATGTGTACACATACATACATATGTATGTGTACAC ATACATACGTATGTGTACACATACATACATATGTATGTATACACATACAT ACGTATGTGTACACATACATACATATGTATGTATACACATACATACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2201		chr3	TogoVar
RGPD5_chr2_109789305_109862705	109794573	A A	ACCCGGCC others(277): Show ACCCGGCCGGGGGGGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCG GCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCT CGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCC GGGGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	40	0.0250	284	c.72+ others(295): Show c.72+49_72+50insGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCC GGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGG CGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGC CTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGG CCGGGGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCC GGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(277): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp2 HG01433.hp2 HG01081.hp2 HG01123.hp2 HG01433.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0021 a0002c0002 a0001c0001 a0001c0021 a0002c0002	a0001c0001t0001 a0001c0021t0002 a0002c0002t0002 a0001c0001t0001 a0001c0021t0002 a0002c0002t0002	a0001c0001t0001g0068 a0001c0021t0002g0047 a0002c0002t0002g0062 a0001c0001t0001g0068 a0001c0021t0002g0047 a0002c0002t0002g0062	3	280	0.0107	284	c.3+2 others(299): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(277): Show GGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGGGAGGAG GGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGGGGAGGAGGGAGG GGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGA GAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGG AGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAG GAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0323 a0001c0002t0005g0323	1	396	0.0025	284	c.807 others(301): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTC CCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCCCCTCC CTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SCAPER_chr15_76342904_76910340	76800144	T T	TATACATG others(277): Show TATACATGGATATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGTTCTGTCGCCCAGGCGGGAGTGCAGTGGCGCGATCTCCGCTCACTGC AAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTT TTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02132.hp1 NA18939.hp1 others(1): Show HG01167.hp1 HG02132.hp1 NA18939.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0109 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0109 a0001c0007t0001g0025	4	312	0.0128	284	c.611 others(299): Show c.611+103_611+104insGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCGTCTCTA CTAAAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGG AGCTTGCAGTGAGCGGAGATCGCGCCACTGCACTCCCGCCTGGGCGACAG AACGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATATCCAT GTAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	7/31			chr15	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGTTGGG others(277): Show GGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGG GGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGG GGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGG TTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	290	0.0035	284	c.464 others(297): Show c.464+83_464+84insTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGG TTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGT TGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGG GGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTG AGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA GG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339728	A A	ATCCCCCC others(277): Show ATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATC CCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCC CCCACAAGCATAGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCA CAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCAACAA GCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGC ATCACTCCAGCCCTCCCCTACTCTCCTCATTCTAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0082 a0007c0022t0082	a0007c0022t0082g0073 a0007c0022t0082g0073	1	280	0.0036	284	c.89- others(297): Show c.89-494_89-493insATAGAATGAGGAGAGTAGGGGAGGGCTGGAGT GATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTA TGCTTGTTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGC TTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTGT GGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGG GGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGG GA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339728	A A	ATCCCCCC others(277): Show ATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATC CCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCC CCCACAAGCATAGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCA CAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCAACAA GCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGC ATCACTCCAGCCCTCCCCTACTCTCCTCATTCTAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0078 a0001c0004t0004g0078	1	280	0.0036	284	c.89- others(297): Show c.89-494_89-493insATAGAATGAGGAGAGTAGGGGAGGGCTGGAGT GATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTA TGCTTGTTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGC TTGTGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTGT GGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGG GGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGG GA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACG others(277): Show CCCCCACGCTCCTCATTCTATCCCCCCACAAGCATCACTCCAACCCTCCC CTACTCTCCTCACTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTA CTCTCCTCACTATCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTC CTCATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCCCCAACTCTCCTC ATTCTACGCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCA TTCTACCCCCCCCCCACAAGCACTGCTCCAACCCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0092 a0001c0010t0092	a0001c0010t0092g0274 a0001c0010t0092g0274	1	280	0.0036	284	c.89- others(297): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGGTA GAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGCGTAG AATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAAT GAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGA GAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAG TAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGGAGCGTGG GG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACG others(277): Show CCCCCACGCTCCTCATTCTATCCCCCCACAAGCATCGCTCCAACCCTCCC CTACTCTCCTCACTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTA CTCTCCTCACTATCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTC CTCATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCCCCAACTCTCCTC ATTCTACGCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCA TTCTACCCCCCCCCCACAAGCACTGCTCCAACCCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp1 HG02886.hp2 others(2): Show HG02258.hp1 HG02622.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0006 a0001c0023 a0002c0009 others(1): Show a0001c0006 a0001c0023 a0002c0009 a0004c0027	a0001c0006t0086 a0001c0023t0094 a0002c0009t0089 others(2): Show a0001c0006t0086 a0001c0023t0094 a0002c0009t0089 a0002c0009t0090 a0004c0027t0087	a0001c0006t0086g0272 a0001c0023t0094g0271 a0002c0009t0089g0269 others(2): Show a0001c0006t0086g0272 a0001c0023t0094g0271 a0002c0009t0089g0269 a0002c0009t0090g0270 a0004c0027t0087g0273	5	280	0.0179	284	c.89- others(297): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGGTA GAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGCGTAG AATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAAT GAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGA GAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAG TAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGG GG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SHISA5_chr3_48462876_48509174	48486242	A A	ATATTATA others(277): Show ATATTATATACTATATATATATTATATATTATATACTATATATATTATAT ATAATATAGTATATATTATATAATATATAATATAGTATATATTATATAAT ATATAATATAGTATATATTATATAATATATACTATATTATATATAGTATA TAATACATTATATGTTATATAACATATAATGTATTATATATTATATATAA TACATTATATGTTATATAACATATAATGTATTATATATTATATGTTATAT AATATATAATACATTATGTTATATAACATATAATG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	290	0.0035	284	c.234 others(301): Show c.234-6986_234-6985insCATTATATGTTATATAACATAATGTATT ATATATTATATAACATATAATATATAATACATTATATGTTATATAACATA TAATGTATTATATATAATATATAATACATTATATGTTATATAACATATAA TGTATTATATACTATATATAATATAGTATATATTATATAATATATACTAT ATTATATATTATATAATATATACTATATTATATATTATATAATATATACT ATATTATATATAATATATATAGTATATAATATATAATATATATATAGTAT ATAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48486344	G G	GTATTATA others(277): Show GTATTATATATTATATAATATATAATGTATTATATATTATATAATATATA ATATATAATGTATTATATATTATATAATATATAATATATAATGTATTATA TATTATATAATATATAATATATAATGTATTATATATTATATAATATATAA TATATAATGTATTATATATTATATAATATATAATATATAATGTATTATAT ATTATATAATATATAATATATAATGTATTATATATTATATAATATATAAT ATATAATACATTATTTATTATATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19057.hp1 NA19076.hp1 NA18747.hp1 NA19057.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0036	3	290	0.0103	284	c.234 others(301): Show c.234-7088_234-7087insATATTATATATTATATAATAAATAATGT ATTATATATTATATATTATATAATATATAATACATTATATATTATATATT ATATAATATATAATACATTATATATTATATATTATATAATATATAATACA TTATATATTATATATTATATAATATATAATACATTATATATTATATATTA TATAATATATAATACATTATATATTATATATTATATAATATATAATACAT TATATATTATATATTATATAATATATAATACATTATATATTATATAATAT ATAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SIGIRR_chr11_400716_419999	402041	G G	GCCCCGCT others(277): Show GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCC CGCTCACACCCGACCCGCTCACACCCGACCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	242	0.0041	284	c.38 others(295): Show c.3854_*3855insGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGC GGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGG GCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGG GTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGTGTGAGCGGGGTCCGGG GTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGAG CGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3674		chr11	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGAGGGGT others(277): Show GGAGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGTGCC CAGCTCTGACCATGTCTGAATGCAGTCGGGGGGGGGGGGGTGCCCAGCTC TGACCATGTCTGAATGCAGTCGGGGAGGGGGGTGCCCAGCTCTGACCATG TCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTC GGGCGGGGGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGG GGGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	242	0.0041	284	c.-15 others(303): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCCCCCTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCC CCCCCGCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCGACT GCATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACTGCATTCAG ACATGGTCAGAGCTGGGCACCCCCCCCCCCCCGACTGCATTCAGACATGG TCAGAGCTGGGCACCCCCCCCGACTGCATCCAGACATGGTCAGAGCTGAG CACCCCTC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGCGGG others(277): Show GGGGCGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGGG TGCTCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGTGGTGCCCAGC TCTGACCATGTCTGGATACAGTCGGGGGGGGGGGGTGCCCAGCTCTGACC ATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCTCTGACCATGTCTGGAT GCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGG GAGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	242	0.0041	284	c.-15 others(303): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACTGCA TCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCCCGACTGTATCCAGAC ATGGTCAGAGCTGGGCACCACCCCCCCCGACTGTATCCAGACATGGTCAG AGCTGAGCACCCCTCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCAC CCCCGCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGLEC14_chr19_51634478_51651825	51636051	C C	CTAATTTT others(277): Show CTAATTTTCGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCCGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG03209.hp1 HG02258.hp1 HG02280.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0077 a0001c0002t0012 a0001c0002t0063 a0001c0001t0077 a0001c0002t0012 a0001c0002t0063	a0001c0001t0077g0141 a0001c0002t0012g0015 a0001c0002t0063g0106 a0001c0001t0077g0141 a0001c0002t0012g0015 a0001c0002t0063g0106	3	300	0.0100	284	c.73 others(295): Show c.7303_*7304insTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCGGAGATCCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCGAAAATTA	SIGLEC14	ENSG00000254415.4	transcript	ENST00000360844.7	protein_coding		3426		chr19	TogoVar
SIGLEC14_chr19_51634478_51651825	51636051	C C	CTAATTTT others(277): Show CTAATTTTCGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCCGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02155.hp1 HG02886.hp1 others(11): Show HG02145.hp1 HG02155.hp1 HG02886.hp1 HG03579.hp1 HG03942.hp1 NA18522.hp1 NA18941.hp1 NA18944.hp2 NA18955.hp2 NA18988.hp1 NA19079.hp1 NA19079.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0009 a0001c0001t0021 a0001c0001t0075 others(8): Show a0001c0001t0009 a0001c0001t0021 a0001c0001t0075 a0001c0001t0090 a0001c0001t0096 a0001c0002t0012 a0001c0002t0035 a0001c0002t0067 a0001c0002t0070 a0001c0002t0073 a0001c0004t0047	a0001c0001t0009g0007 a0001c0001t0009g0071 a0001c0001t0021g0011 others(9): Show a0001c0001t0009g0007 a0001c0001t0009g0071 a0001c0001t0021g0011 a0001c0001t0075g0070 a0001c0001t0090g0063 a0001c0001t0096g0068 a0001c0002t0012g0015 a0001c0002t0035g0144 a0001c0002t0067g0104 a0001c0002t0070g0102 a0001c0002t0073g0099 a0001c0004t0047g0135	14	300	0.0467	284	c.73 others(295): Show c.7303_*7304insTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCGGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCGAAAATTA	SIGLEC14	ENSG00000254415.4	transcript	ENST00000360844.7	protein_coding		3426		chr19	TogoVar
SLC12A7_chr5_1045384_1117063	1073218	C C	CCCCAGTG others(277): Show CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGA GCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCAT CACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACGGTATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0003 a0002c0011t0003	a0002c0011t0003g0074 a0002c0011t0003g0074	1	118	0.0085	284	c.224 others(301): Show c.2241+414_2241+415insCTGCATAAGTGTGATACCGTGTGCTGGG GGCTCACTGGGGGCTGCATAAGTGTGATACCGTGTGCTGGGGGCTCACTG GGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCAT AAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATG CCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGC TGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTC ACTGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC9A3_chr5_465456_529449	502907	C C	CGCCGTAA others(277): Show CGCCGTAACGACACAGATGGGCGCTGTGTTCCAGTGAAACTTTACCACTC ACTACCACTGAGGCCGAAAGCTGCCGTAACGACACAGATGGGCGCTGTGT TCCAGTGAAACTTTACCACTCACTACCACTGAGGCCGAAAGCTGCCGTAA CGACACAGATGGGCGCTGTGTTCCAGTGAAACTTTACCACTCACTACCAC TGAGGCCGAAAGCCGCCGTAATGACACAGATGGGCGCTGTGTTCCAGTGA AACTTTACCACTCACTACCAGTGAGGCCGAAAGCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp1 HG03209.hp1 HG01891.hp2 HG02922.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0050 a0001c0001t0001g0103 a0001c0001t0001g0104	3	218	0.0138	284	c.212 others(303): Show c.212-10837_212-10836insAGCTTTCGGCCTCACTGGTAGTGAGT GGTAAAGTTTCACTGGAACACAGCGCCCATCTGTGTCATTACGGCGGCTT TCGGCCTCAGTGGTAGTGAGTGGTAAAGTTTCACTGGAACACAGCGCCCA TCTGTGTCGTTACGGCAGCTTTCGGCCTCAGTGGTAGTGAGTGGTAAAGT TTCACTGGAACACAGCGCCCATCTGTGTCGTTACGGCAGCTTTCGGCCTC AGTGGTAGTGAGTGGTAAAGTTTCACTGGAACACAGCGCCCATCTGTGTC GTTACGGC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLCO5A1_chr8_69662046_69839978	69762118	T T	TTTTCTTT others(277): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0060 a0002c0002t0002g0060	1	280	0.0036	284	c.908 others(299): Show c.908-244_908-243insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SLIT3_chr5_168656740_169306139	168817997	T T	TAAAACCA others(277): Show TAAAACCAATACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGT CAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTA AAAATACAAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAACGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCACCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0004 a0001c0050t0004	a0001c0050t0004g0064 a0001c0050t0004g0064	1	132	0.0076	284	c.630 others(299): Show c.630-535_630-534insTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCGTTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGTATTGG TTTT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	7/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168817997	T T	TAAAACCA others(277): Show TAAAACCAATACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGT CAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTA AAAATACAAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCACCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02486.hp1 HG02559.hp2 others(9): Show HG01192.hp2 HG02486.hp1 HG02559.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03516.hp2 NA18522.hp2 NA19043.hp2 NA20129.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0009 a0013	a0001c0003 a0001c0004 a0001c0007 others(7): Show a0001c0003 a0001c0004 a0001c0007 a0002c0002 a0002c0005 a0004c0037 a0004c0040 a0006c0034 a0009c0036 a0013c0022	a0001c0003t0016 a0001c0004t0006 a0001c0004t0010 others(9): Show a0001c0003t0016 a0001c0004t0006 a0001c0004t0010 a0001c0007t0009 a0002c0002t0019 a0002c0002t0024 a0002c0005t0003 a0004c0037t0010 a0004c0040t0006 a0006c0034t0012 a0009c0036t0002 a0013c0022t0023	a0001c0003t0016g0007 a0001c0004t0006g0060 a0001c0004t0010g0131 others(9): Show a0001c0003t0016g0007 a0001c0004t0006g0060 a0001c0004t0010g0131 a0001c0007t0009g0113 a0002c0002t0019g0107 a0002c0002t0024g0086 a0002c0005t0003g0128 a0004c0037t0010g0129 a0004c0040t0006g0087 a0006c0034t0012g0046 a0009c0036t0002g0063 a0013c0022t0023g0004	12	132	0.0909	284	c.630 others(299): Show c.630-535_630-534insTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGTATTGG TTTT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	7/35			chr5	TogoVar

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