Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
MMACHC_chr1_45495300_45518382	45497643	C C	CGCCACCC others(422): Show CGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGT CTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGG AGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGAGGAGCGCCTCTT CCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCC CATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAA GTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGACGAGCG CCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCG GCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCCCAGCAGCCGCCCCGT ATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	386	0.0026	429	c.-26 others(440): Show c.-2690_-2689insGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGC CTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCA GTCTGGAAAGTGAGGAGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAG TGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGT CTCTGCCCGGCCGCCCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGC TGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCT GGGAAGTGACGAGCGCCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGAG GAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCC CAGCAGCCGCCCCGTATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2656		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497643	C C	CGCCACCC others(422): Show CGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGT CTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGG AGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGAGGAGCGCCTCTT CCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCC CATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAA GTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGACGAGCG CCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCG GCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAGCCGCCCCGT ATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(286): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0010 a0002c0003 a0003c0004 a0005c0009 a0006c0007 a0008c0011	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(67): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0031 a0001c0001t0032 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0060 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0069 a0001c0001t0078 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0022 a0001c0002t0026 a0001c0002t0027 a0001c0002t0033 a0001c0002t0036 a0001c0002t0038 a0001c0002t0041 a0001c0002t0052 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0002t0057 a0001c0002t0058 a0001c0002t0059 a0001c0002t0061 a0001c0002t0062 a0001c0002t0067 a0001c0005t0028 a0001c0005t0072 a0001c0005t0073 a0001c0005t0074 a0001c0008t0001 a0001c0010t0002 a0002c0003t0009 a0002c0003t0021 a0002c0003t0070 a0003c0004t0001 a0003c0004t0005 a0003c0004t0007 a0005c0009t0068 a0006c0007t0002 a0008c0011t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(154): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0006g0002 a0001c0001t0006g0007 a0001c0001t0006g0016 a0001c0001t0006g0020 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0001t0008g0016 a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0008g0093 a0001c0001t0008g0100 a0001c0001t0008g0117 a0001c0001t0011g0038 a0001c0001t0014g0002 a0001c0001t0014g0003 a0001c0001t0015g0002 a0001c0001t0015g0003 a0001c0001t0015g0021 a0001c0001t0016g0012 a0001c0001t0016g0119 a0001c0001t0019g0003 a0001c0001t0019g0021 a0001c0001t0019g0042 a0001c0001t0020g0012 a0001c0001t0020g0039 a0001c0001t0023g0002 a0001c0001t0023g0007 a0001c0001t0024g0018 a0001c0001t0024g0074 a0001c0001t0024g0079 a0001c0001t0025g0018 a0001c0001t0031g0018 a0001c0001t0031g0058 a0001c0001t0032g0002 a0001c0001t0032g0016 a0001c0001t0039g0018 a0001c0001t0040g0078 a0001c0001t0042g0114 a0001c0001t0043g0043 a0001c0001t0044g0095 a0001c0001t0045g0043 a0001c0001t0046g0003 a0001c0001t0047g0098 a0001c0001t0048g0002 a0001c0001t0049g0016 a0001c0001t0050g0002 a0001c0001t0051g0002 a0001c0001t0060g0112 a0001c0001t0063g0020 a0001c0001t0064g0002 a0001c0001t0066g0039 a0001c0001t0069g0070 a0001c0001t0078g0116 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0045 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0092 a0001c0002t0005g0001 a0001c0002t0005g0026 a0001c0002t0005g0048 a0001c0002t0007g0001 a0001c0002t0007g0027 a0001c0002t0007g0031 a0001c0002t0007g0059 a0001c0002t0010g0001 a0001c0002t0010g0006 a0001c0002t0010g0013 a0001c0002t0010g0026 a0001c0002t0010g0036 a0001c0002t0011g0001 a0001c0002t0011g0017 a0001c0002t0011g0030 a0001c0002t0011g0032 a0001c0002t0013g0001 a0001c0002t0022g0001 a0001c0002t0022g0030 a0001c0002t0026g0001 a0001c0002t0026g0061 a0001c0002t0027g0023 a0001c0002t0027g0068 a0001c0002t0033g0001 a0001c0002t0036g0080 a0001c0002t0038g0013 a0001c0002t0041g0001 a0001c0002t0052g0067 a0001c0002t0054g0001 a0001c0002t0055g0055 a0001c0002t0056g0001 a0001c0002t0057g0071 a0001c0002t0058g0069 a0001c0002t0059g0001 a0001c0002t0061g0001 a0001c0002t0062g0063 a0001c0002t0067g0001 a0001c0005t0028g0011 a0001c0005t0072g0011 a0001c0005t0073g0011 a0001c0005t0074g0011 a0001c0008t0001g0036 a0001c0010t0002g0025 a0002c0003t0009g0008 a0002c0003t0009g0010 a0002c0003t0009g0072 a0002c0003t0009g0082 a0002c0003t0009g0084 a0002c0003t0021g0010 a0002c0003t0070g0008 a0003c0004t0001g0006 a0003c0004t0001g0014 a0003c0004t0005g0006 a0003c0004t0007g0014 a0005c0009t0068g0002 a0006c0007t0002g0002 a0008c0011t0002g0104	289	386	0.7487	429	c.-26 others(440): Show c.-2690_-2689insGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGC CTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCA GTCTGGAAAGTGAGGAGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAG TGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGT CTCTGCCCGGCCGCCCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGC TGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCT GGGAAGTGACGAGCGCCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGAG GAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCC CGGCAGCCGCCCCGTATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2656		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497643	C C	CGCCACCC others(422): Show CGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGT CTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGG AGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGAGGAGCGCCTCTT CCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCC CATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAA GTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGACGAGCG CCTCTGCCTGGCCGCCACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCG GCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAGCCGCCCCGT ATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0006 a0003c0004t0001g0006	1	386	0.0026	429	c.-26 others(440): Show c.-2690_-2689insGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGC CTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCA GTCTGGAAAGTGAGGAGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAG TGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGT CTCTGCCCGGCCGCCCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGC TGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCT GGGAAGTGACGAGCGCCTCTGCCTGGCCGCCACCCCGTCTGGGAGGTGAG GAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCC CGGCAGCCGCCCCGTATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2656		chr1	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AAAGGGAG others(422): Show AAAGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG AGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAG AGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02922.hp2 HG03130.hp1 HG01109.hp2 HG02922.hp2 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0017 a0001c0007t0002 a0001c0007t0006 a0001c0006t0017 a0001c0007t0002 a0001c0007t0006	a0001c0006t0017g0170 a0001c0007t0002g0200 a0001c0007t0006g0190 a0001c0006t0017g0170 a0001c0007t0002g0200 a0001c0007t0006g0190	3	250	0.0120	429	c.225 others(446): Show c.225-2394_225-2393insAAGGGAGGAGAGAGAGGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAG GGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG ATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA G	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43495763	G G	GGTGGAGG others(422): Show GGTGGAGGTAGTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAGG TGGTGGTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGTGGAGGTG GTGGTGGTGGAGGTGGTGATGGTGGAGGTGGTGGTGGAGGTGGTGATGGT GGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGG TGGTGGTGGAGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGGAGGTG GTGGTGGAGGTGATGGTGGAGGTGGTGGTGGTGGAGATGGTGGTGGTGGA GATGGTGGTGATGGTGGAGGTGGTGGTGGAGATGGTGGTGGTGGAGGTGG TGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTAGAGATGGTGGTGGTGGAG GTGGTGGTGGAGGTAGTGGTGGTGGAGGTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	250	0.0040	429	c.633 others(446): Show c.633-2468_633-2467insAGGTAGTGGTGGTGGAGGTGATGGTGGA GGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGATGGTGGAGGTGGTG GTGGAGGTGGTGATGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGAT GGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGATGGTGGAGGTGGTGG TGGTGGTGGTGGAGGTGGTGGTGGAGGTGATGGTGGAGGTGGTGGTGGTG GAGATGGTGGTGGTGGAGATGGTGGTGATGGTGGAGGTGGTGGTGGAGAT GGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTAG AGATGGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTAGTG G	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(422): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	364	0.0028	429	c.18 others(440): Show c.1842_*1843insATATATATATTTTTTTTTTTTTTTTTTTTTTTTT GAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACAATCT CGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCCAGCTAAT TTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTCACCAGGATGG TCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCAAATATAT ATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCAGCAGGGC AATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACCTCAGCCT CCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCTAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRTFA_chr22_40405289_40641719	40537573	C C	CCCGTCCG others(422): Show CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGTGGGGGGGTCGGCCCTCCTGCCCTGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGATGGAGGTGGGGGG GGGGTCAGTCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGGTCAGTCCCCCGCCTGGCCAGCCGTG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	256	0.0039	429	c.241 others(448): Show c.241+14532_241+14533insCACGGCTGGCCAGGCGGGGGACTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGGACTGA CCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCAGGGCAGGAGGGCCGACCCCCCCACACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA CGG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSH4_chr1_75791882_75918242	75906498	T T	TATATATA others(422): Show TATATATACAATATTATATATATTATATATAATATTATATATATTATATA TAATATATATACAATATTATATATATTATATATAATATATATACAATATT ATATATATTATATATATATACATATATATGTATATATACATATATAATAT GTATATATGTATATATATATGTATAATATATATATTGTATATATATATTA TACATATGTATATATATATTATACATATATATGTATAATATATATAATGT ATATATATATACATATTATATATTATATATAATATATACATATATATTAT ATATAATATATACATATTATATATTATATATATAATATATATACATATTA TATTATATATAATATATATACATATTACATATATTATATATAATATATAT ACATATATAATATATTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0157 a0002c0003t0001g0157	1	332	0.0030	429	c.262 others(448): Show c.2620-6191_2620-6190insCAATATTATATATATTATATATAATA TTATATATATTATATATAATATATATACAATATTATATATATTATATATA ATATATATACAATATTATATATATTATATATATATACATATATATGTATA TATACATATATAATATGTATATATGTATATATATATGTATAATATATATA TTGTATATATATATTATACATATGTATATATATATTATACATATATATGT ATAATATATATAATGTATATATATATACATATTATATATTATATATAATA TATACATATATATTATATATAATATATACATATTATATATTATATATATA ATATATATACATATTATATTATATATAATATATATACATATTACATATAT TATATATAATATATATACATATATAATATATTATATATTATATATAATAT ATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75906498	T T	TATATATA others(422): Show TATATATACAATATTATATATATTATATATAATATTATATATATTATATA TAATATATATACAATATTATATATATTATATATAATATATATACAATATT ATATATATTATATATATATACATATATATGTATATATACATATATAATAT GTATATATGTATATATATATGTATAATATATATATTGTATATATATATTA TACATATGTATATATATATTATACATATATATGTATAATATATATAATGT ATATATATATACATATTATATATTATATATAATATATACATATATATTAT ATATAATATATACATATTATATATTATATATATAATATATATACATATTA TATTATATATAATATATATACATATTACATATATTATATATTATATATAT ACATATATAATATATTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0138 a0002c0003t0001g0138	1	332	0.0030	429	c.262 others(448): Show c.2620-6191_2620-6190insCAATATTATATATATTATATATAATA TTATATATATTATATATAATATATATACAATATTATATATATTATATATA ATATATATACAATATTATATATATTATATATATATACATATATATGTATA TATACATATATAATATGTATATATGTATATATATATGTATAATATATATA TTGTATATATATATTATACATATGTATATATATATTATACATATATATGT ATAATATATATAATGTATATATATATACATATTATATATTATATATAATA TATACATATATATTATATATAATATATACATATTATATATTATATATATA ATATATATACATATTATATTATATATAATATATATACATATTACATATAT TATATATTATATATATACATATATAATATATTATATATTATATATAATAT ATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTERF3_chr8_96234402_96266610	96250613	G G	GGAAGCAG others(422): Show GGAAGCAGAAGCAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAA GAAGCAGAAGAAGCAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAG AAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGCA GAAGAAGAAGCAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGA AGAAGAAGAAGCAGAAGAAGAAGAAGAAGCAGAAGAAGAAGCAGAAGCAG AAGCAGAAGCAGAAGCAGAAGAAGAAGCAGAAGAAGAAGAAGAAGCAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18982.hp2 NA18960.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0113 a0001c0001t0001g0114	2	294	0.0068	429	c.677 others(444): Show c.677+292_677+293insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTGCTTCTTCTTCTTCTTCTGCTTCTTCTTCTGCTTCTGCTTCTGCTT CTGCTTCTGCTTCTTCTTCTGCTTCTTCTTCTTCTTCTGCTTCTTCTTCT TCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTGCTTCTTCTTC TGCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTT CTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTGCTTCTTCTGCTTC TTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTGCTTCTGCTTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250681	A A	AGGAAGAA others(422): Show AGGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGA AGAAGAAGAGGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAGGAAGAAGAAGAAGAGGAAGAAGAAGAAGAGGAAGAG GAAGAGGAAGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAGGA AGAAGAGGAAGAAGGAGAAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGAAGAAGAAGAAGGA GAAGAAGGAGAAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	294	0.0034	429	c.677 others(444): Show c.677+224_677+225insCCTCCTCCTCCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTTCTCCTTCTTC TCCTTCTTCTTCTTCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTCCTTCTTCCTCTTCT TCCTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCTTCCTCTTC CTCTTCCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCCTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCCTCTTCTTCT TCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(422): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATATT TATATATCATAAATATATAAAAATTTATATTTATATATCATAAATAAAAA TTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	429	c.-28 others(440): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATAT ATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATA TATCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175039584	C C	CAAATGTC others(422): Show CAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACA CCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTA GGGACATGGATGAAATTGGAAACCATCATTCTGAGTAAACTATCGCAAGA ACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAA TGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGG TGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCT AGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATA TGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAA TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0011 a0003c0005t0011	a0003c0005t0011g0019 a0003c0005t0011g0019	1	64	0.0156	429	c.44- others(446): Show c.44-57205_44-57204insAATGTCCAACAATGATAGACTGGATTAA GAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTGAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCAT TGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(422): Show CTGTATATATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTAC AGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGT GTACAGCATGTATACTGTATGTATGTATACTGTATGTATGTATACTGTAT GTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGT ATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACTGTGTATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTA TACTGTATACATACTGCATGCAGTATGTATACTGTATATATACACTATAC AGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0046 a0001c0007t0001g0046	1	362	0.0028	429	c.-75 others(448): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTATAC AGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATACACA GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATAC ATACATACAGTATACATACATACAGTATACATACATACAGTATACATGCT GTACACAGTATACATGCTGTACACAGTATACATGCTGTACACAGTATACA TGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACATATAT ACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(422): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGT CGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGA GGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGG AGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	356	0.0028	429	c.91+ others(442): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGG GTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(422): Show GGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAG GGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGG ATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAAGGGAGGGGGAGGGGGAGGGGAAGGGGAGGAAGAG GGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGA AGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGA GGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGA AGAAGGGGAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0174 a0001c0001t0072g0174	1	344	0.0029	429	c.154 others(446): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCTCTTCCTCCCCTTCCCCTCCCCCTCCCCCTCCCTTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCC ATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCTCC C	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(422): Show GGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGTGGGGGAGGGAGAGGGGA AAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAAGGGAGGGGGAG GGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAGGGGAGGAAGAG GGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGA AGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGA GGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGA AGAAGGGGAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02559.hp1 HG02572.hp2 others(3): Show HG01081.hp2 HG02559.hp1 HG02572.hp2 HG03225.hp1 HG03453.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0023 a0001c0001t0024 others(2): Show a0001c0001t0010 a0001c0001t0023 a0001c0001t0024 a0001c0001t0038 a0001c0001t0077	a0001c0001t0010g0263 a0001c0001t0023g0260 a0001c0001t0024g0258 others(3): Show a0001c0001t0010g0263 a0001c0001t0023g0260 a0001c0001t0024g0258 a0001c0001t0024g0262 a0001c0001t0038g0259 a0001c0001t0077g0261	6	344	0.0174	429	c.154 others(446): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCTCTTCCTCCCCTTCCCCTCCCCCTCCCCCTTCTCCCTTCCCCCTTTC CCCTCCCCCTCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTTCCCCTCTCCC TTTCCCCTCTCCCTCCCCCACCCCTCCCCCTCCCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCTCC C	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(422): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGG GGAGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGG AGGGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGG GGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGA AGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGA GGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGA AGAAGGGGAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0075 a0002c0002t0005g0075	1	344	0.0029	429	c.154 others(446): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCC CTCCCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCT CCCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCC C	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NXN_chr17_794310_984776	841624	G G	GGGCGAGC others(422): Show GGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGG TCCACCCTGACCACAGCGCATCTCACGCCGGCGAGCAGGTCCACCCTGAC CACGGCGCATCTCACGCCGGCGAGCAGGTCCACCCTGACCACAGCGCATC TCACGCCGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCACGCCGGCG AGCAGGTCCACCCTGACCACAGCGCATCTCACGCCGGCGAGCAGGTCCAC CCTGACCACAGCGCATCTCACGCCGGCGAGCAGGTCCACCCTGACCACAG CGCATCTCACGCCGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCACG CCGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCACGCCGGCGAGCAG GTCCACCCTGACCACAGCGCATCTCACGCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	242	0.0041	429	c.361 others(448): Show c.361-15547_361-15546insGGCGTGAGATGCGCTGTGGTCAGGGT GGACCTGCTCGCCGGCGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCG CCGGCGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCGGCGTGAGA TGCGCTGTGGTCAGGGTGGACCTGCTCGCCGGCGTGAGATGCGCTGTGGT CAGGGTGGACCTGCTCGCCGGCGTGAGATGCGCTGTGGTCAGGGTGGACC TGCTCGCCGGCGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCGGC GTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCGGCGTGAGATGCGC CGTGGTCAGGGTGGACCTGCTCGCCGGCGTGAGATGCGCTGTGGTCAGGG TGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTC GCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR10R2_chr1_158467220_158485936	158473767	C C	CCTTCTTC others(422): Show CCTTCTTCCTTCCTTCCTTCCTCCCTCCTTCCTCTTTCCCTCTCTGCTTC CTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTTC CCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCTCTTTCCCTCTCTG CTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTTCCTCCCTC CTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCT CTCTGCTTCCTTCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTTCCT CCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTTCCTCCCTCCTTCCCTCTT TCCCTCTCTGCTTCCTTCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCC TTCCTCCCTCCTTCCCTCTTTCCCTCTCTG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0104 a0003c0003t0001g0104	1	446	0.0022	429	c.27+ others(444): Show c.27+1419_27+1420insTTCCTTCCTTCCTTCCTCCCTCCTTCCTCT TTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTC CTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTTC CTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTG CTTCCTTCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTC CTTCCCTCTTTCCCTCTCTGCTTCCTTCCTCCCTCCTTCCCTCTTTCCCT CTCTGCTTCCTTCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTTCCT CCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTTCCTCCCTCCTTCCCTCTT TCCCTCTCTGCTTCCTTCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTC	OR10R2	ENSG00000198965.5	transcript	ENST00000641067.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(422): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAA GAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GAAGGAAGGAAGAAAGGAAGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0017 a0017	a0017c0070 a0017c0070	a0017c0070t0008 a0017c0070t0008	a0017c0070t0008g0090 a0017c0070t0008g0090	1	134	0.0075	429	c.575 others(450): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCT TCCTTCCTTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC TTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PRKCZ_chr1_2045411_2190395	2123277	G G	GGTAGTTA others(422): Show GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTC ATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCACGGCTGTAGTTAG GGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGT GGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCATCATGGTGGTAGTTAGG GTCATGGTGGTAGTTAGGGTCATGGCTGTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0274 a0001c0003t0001g0274	1	286	0.0035	429	c.335 others(448): Show c.335-11983_335-11982insAGTTAGGATCATGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGTGGTAGT TAGGGTCACGGCTGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGG TCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGT AGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPRT_chr20_42067756_43194906	42509471	A A	ATAATTTA others(422): Show ATAATTTATATTTAATTTATAGATATAAATTATATAATTTATATTTAATT TATAGATATAAATTATATAATTTATATTTAATTTATAGATATAAATTATA TAATTTATATTTAATTTATAGATATAAATTATATAATTTATATTTAATTT ATAGATATAAATTATATAATTTATATTTAATTTATAGATATAAATTATAT AATTTATATTTAATTTATAGATATAAATTATATAATTTATATTTAATTTA TAGATATAAATTATATAATTTATATTTAATTTATAGATATAAATTATATA ATTTATATTTAATTTATAGATATAAATTATATAATTTATATTTAATTTAT AGATATAAATTATGTAATTTATATTTAATTTATAGATATAAATTATATAA TTTATATTTAATTTATAGATATAAATTATG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0013 a0001c0029t0013	a0001c0029t0013g0057 a0001c0029t0013g0057	1	62	0.0161	429	c.115 others(450): Show c.1154-36910_1154-36909insCATAATTTATATCTATAAATTAAA TATAAATTATATAATTTATATCTATAAATTAAATATAAATTACATAATTT ATATCTATAAATTAAATATAAATTATATAATTTATATCTATAAATTAAAT ATAAATTATATAATTTATATCTATAAATTAAATATAAATTATATAATTTA TATCTATAAATTAAATATAAATTATATAATTTATATCTATAAATTAAATA TAAATTATATAATTTATATCTATAAATTAAATATAAATTATATAATTTAT ATCTATAAATTAAATATAAATTATATAATTTATATCTATAAATTAAATAT AAATTATATAATTTATATCTATAAATTAAATATAAATTATATAATTTATA TCTATAAATTAAATATAAATTATATAATTTATATCTATAAATTAAATATA AATTA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PYM1_chr12_55896413_55932894	55905863	A A	ATATATAT others(422): Show ATATATATCTATTAGATATATATATTATTATATATATCTATTATATATAT TATTATATATATCTATTAGATATATATATTATTATATATATCTATTAGAT ATATATATTATTATATATATCTATTAGATATATATATTATTATATATATC TATTAGATATATATATTATTATATATATCTATTAGATATATATATTATTA TATATATCTATTAGATATATATATTATTATATATATCTAATAGATATATA TATTATTATATATATCTATTAGATATATATATTATTATATATATCTATTA GATATATATATTATTATATATATCTAATAGATATATATAATAATATATAT ATCTATTAGATATATATATTATTATATATATCTATTAGATATATATATTA TTATATATATCTATTAGATATATATATTAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0061 a0001c0001t0004g0061	1	344	0.0029	429	c.38- others(444): Show c.38-2384_38-2383insATAATATATATATCTAATAGATATATATAA TAATATATATATCTAATAGATATATATAATAATATATATATCTAATAGAT ATATATATTATTATATATATCTATTAGATATATATAATAATATATATATC TAATAGATATATATAATAATATATATATCTAATAGATATATATAATAATA TATATATCTATTAGATATATATAATAATATATATATCTAATAGATATATA TAATAATATATATATCTAATAGATATATATAATAATATATATATCTAATA GATATATATAATAATATATATATCTAATAGATATATATAATAATATATAT ATCTAATAGATATATATAATAATATATATATCTAATAGATATATATAATA ATATATATAATAGATATATATAATAATATATATATCTAATAGATATATA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
RAB11FIP3_chr16_420649_528011	458604	G G	GGGTTCAC others(422): Show GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGG GGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCT CGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTG ATGCTCACAGGGCCTGGGGGGCCTTCCTCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0057 a0001c0008t0057	a0001c0008t0057g0113 a0001c0008t0057g0113	1	295	0.0034	429	c.715 others(446): Show c.715-2787_715-2786insCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGC CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGGTTCACCGATG C	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114099625	C C	CCCCCCAC others(422): Show CCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCACACAGCCCCC ACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCCCAGCA GCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCAGCCC CCCCACAGCCCCCACAGCACCCCCCACAGCAGCCCCCCCACAGCCCCCAC AGCAGCCCCCCACAGCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGC AGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCACAGCCCC CCACAGCCCCCCACAGCAGCCCCCACAGCCCCCCACAGCCCCCCCACAGC CCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCAGCCCCC CCACAGCAGCCCCCCCACAGCCCCCCACAG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0034	1	67	0.0149	429	c.56- others(446): Show c.56-25789_56-25788insCTGTGGGGGGCTGTGGGGGGGCTGCTGT GGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGG GGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGCTGCTGTGGGGGGCTGT GGGGGGCTGTGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGG CTGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGCTG CTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGGTGCTGTGGGGGCTGTGG GGGGGCTGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGG GCTGCTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCT GTGGGGGCTGTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGG G	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(422): Show AGGGGAAGAGGGCGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGGGGA GGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGGAGGAGGG GGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGAGG GGAGGGGGGAGAGAGGGGGAGGGGACGAGGGGAGGAGGGGAGGGGGAGGA GGGAAGGAGGAGGGGAGGTGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGG GAGGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGAGGGAAGGGGAGGGGG GGGAGGAGGAAGGGGAGGGGGAGGGAGGGGAGAGAGGGAGGGCGGGGAGG AGGGGACGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	318	0.0031	429	c.36 others(440): Show c.3638_*3639insGGGGAAGAGGGCGGAGGGGAGGGGGGGAGGAGGG GAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGG AGGGGGGAGGAGGGGAGGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGG AGGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGG AGGAGGGGAGGGAGGGGAGGGGGGAGAGAGGGGGAGGGGACGAGGGGAGG AGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGTGGGGAGGAGGGGAGGG GGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGA GGGAAGGGGAGGGGGGGGAGGAGGAAGGGGAGGGGGAGGGAGGGGAGAGA GGGAGGGCGGGGAGGAGGGGACGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(422): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGCATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCTATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02132.hp2 HG03654.hp2 HG02056.hp2 HG02132.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0137 a0001c0001t0005g0138 a0001c0001t0006g0094 a0001c0001t0001g0137 a0001c0001t0005g0138 a0001c0001t0006g0094	3	196	0.0153	429	c.-9+ others(446): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATGCAATATATACCATATGGCATATACTATATATTTTATATGCAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA T	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(422): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCCATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18522.hp1 HG02615.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0064 a0001c0001t0001 a0001c0001t0064	a0001c0001t0001g0126 a0001c0001t0064g0124 a0001c0001t0001g0126 a0001c0001t0064g0124	2	196	0.0102	429	c.-9+ others(446): Show c.-9+21075_-9+21076insACAATATATACCATATGGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATGCAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA T	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(422): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCTATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03540.hp1 NA19057.hp2 HG02074.hp2 HG03540.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0049 a0001c0001t0003g0144 a0001c0001t0013g0100 a0001c0001t0001g0049 a0001c0001t0003g0144 a0001c0001t0013g0100	3	196	0.0153	429	c.-9+ others(446): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATGCAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA T	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(422): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGTATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCCATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03041.hp2 HG03130.hp1 HG01256.hp1 HG03041.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0024 a0001c0001t0028 a0001c0005t0010 a0001c0001t0024 a0001c0001t0028 a0001c0005t0010	a0001c0001t0024g0147 a0001c0001t0028g0061 a0001c0005t0010g0178 a0001c0001t0024g0147 a0001c0001t0028g0061 a0001c0005t0010g0178	3	196	0.0153	429	c.-9+ others(446): Show c.-9+21075_-9+21076insACAATATATACCATATGGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA T	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(422): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGTATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCTATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00639.hp2 others(12): Show HG00597.hp2 HG00621.hp1 HG00639.hp2 HG01257.hp2 HG02074.hp1 HG02630.hp1 HG03139.hp1 HG03471.hp1 HG03516.hp2 HG06807.hp2 NA18612.hp2 NA18955.hp2 NA19068.hp1 NA19070.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0041 a0001c0001t0066	a0001c0001t0001g0172 a0001c0001t0002g0093 a0001c0001t0002g0121 others(12): Show a0001c0001t0001g0172 a0001c0001t0002g0093 a0001c0001t0002g0121 a0001c0001t0003g0058 a0001c0001t0003g0123 a0001c0001t0003g0145 a0001c0001t0013g0120 a0001c0001t0014g0096 a0001c0001t0019g0122 a0001c0001t0020g0050 a0001c0001t0020g0051 a0001c0001t0021g0108 a0001c0001t0022g0062 a0001c0001t0041g0057 a0001c0001t0066g0186	15	196	0.0765	429	c.-9+ others(446): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA T	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(422): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGTATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCTATATGGTATATATTGTATATAAAAT ATATAGTATATGCTATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0077 a0001c0001t0034g0077	1	196	0.0051	429	c.-9+ others(446): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATAGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA T	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(422): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGTATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AGAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCTATATGGTATATATTGT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0091 a0001c0001t0046g0091	1	196	0.0051	429	c.-9+ others(446): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT CTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA T	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RGPD5_chr2_109789305_109862705	109794584	G G	GGGGGGGA others(422): Show GGGGGGGAGGGGGGGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGG CGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGC GGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCC CCGGCCCGGCCGGGGGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCG GCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGG CGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCCTCGGCCCC GGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCC CGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCG GCGGCGGCGGCCTCGGCCCGGCCGGGGGGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0027 a0005c0006t0004g0027	1	40	0.0250	429	c.72+ others(440): Show c.72+49_72+50insGGGGAGGGGGGGGCGGCGGCGGCGGCCTCGGCCC GGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGG CGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGC GGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCCTCGGCC CGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGG GCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGG CGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(422): Show AATATATATATTTAAATATATATATTAAAAATATATATATTTAAATATAT ATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATATATTAAT ATACATATTTTAATATATATAATTTAATATATATCTTTAAATATATATAA ATATATATTTAAATATATATATTTAAATATATATTAATATATATATTTAA AGATTATATATTAAATTATATATATTAAAATATGTATATTAATATATATT TAAATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATA TATATATTTTTAATATATATATTTTTAAATATATATATTTATATATATAT TTTTATATATATATATTTATATATATATTTTTATATATATATATTTATAT ATATATTTTTAAATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0106 a0001c0003t0002g0106	1	408	0.0025	429	c.182 others(446): Show c.182-2703_182-2702insTATATATATTAAAAATATATATATTTAA ATATATATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATAT ATTAATATACATATTTTAATATATATAATTTAATATATATCTTTAAATAT ATATAAATATATATTTAAATATATATATTTAAATATATATTAATATATAT ATTTAAAGATTATATATTAAATTATATATATTAAAATATGTATATTAATA TATATTTAAATTATATAATTTAAATATACATATTTAAAAATATATATATT TAAATATATATATTTTTAATATATATATTTTTAAATATATATATTTATAT ATATATTTTTATATATATATATTTATATATATATTTTTATATATATATAT TTATATATATATTTTTAAATATATATATATATATTTATATATATATTTAA A	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	ATATATAT others(422): Show ATATATATATTTAAAAATATATATATTAAAAATATATATATTTAAATATA TATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGTATAT TTAAATTATATAATTTAAATATATATTAATATACATATTTTAATATATAT AATTTAATATATATCTTTAAATATATATAAATATATATTTAAATATATAT ATTTAAATATATATTAATATATATATTTAAAGATTATATATTAAATTATA TATATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATA TACATATTTAAAAATATATATATTTAAATATATATATTTTTAATATATAT ATTTTTAAATATATATATTTATATATATATTTTTATATATATATATTTAT ATATATATTTTTAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03239.hp2 HG03490.hp2 others(3): Show HG03017.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0011 a0001c0003t0002g0099 a0001c0003t0002g0011 a0001c0003t0002g0099	6	408	0.0147	429	c.182 others(446): Show c.182-2718_182-2717insTATATATATTTAAAAATATATATATTAA AAATATATATATTTAAATATATATATTAAAAATATATATATTTAAATATA TATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATATATTAA TATACATATTTTAATATATATAATTTAATATATATCTTTAAATATATATA AATATATATTTAAATATATATATTTAAATATATATTAATATATATATTTA AAGATTATATATTAAATTATATATATTAAAATATGTATATTAATATATAT TTAAATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAAT ATATATATTTTTAATATATATATTTTTAAATATATATATTTATATATATA TTTTTATATATATATATTTATATATATATTTTTAAATATATATATATATT T	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RNF213_chr17_80255852_80403794	80274638	T T	TGAGTGGG others(422): Show TGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGG GTGAGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGT GGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAATGTGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGCGGGGTGAGTGTGGGGGTGAGTGGGGTGAGTGTGGG GAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGG GGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTC TGGGGGGTGAGTGGGGTGAGTGGGGGGTGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG02630.hp1 HG02818.hp2	a0002 a0027 a0002 a0027	a0002c0100 a0027c0101 a0002c0100 a0027c0101	a0002c0100t0058 a0027c0101t0037 a0002c0100t0058 a0027c0101t0037	a0002c0100t0058g0255 a0027c0101t0037g0254 a0002c0100t0058g0255 a0027c0101t0037g0254	2	292	0.0069	429	c.261 others(446): Show c.261+1235_261+1236insAGTGGGGTGAGTGTGGGGAGTGAGTGGG GTGAGTGTGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGTGG GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTG AGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGT GATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGGG GTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGT GGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAG TGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTGA G	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	242710	T T	TTACCTTC others(422): Show TTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTG ATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTAT TGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTC TATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCT CTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCC TCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTC CTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTT CCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCC TTCCTCTATTGACTACCTTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG02155.hp2 others(2): Show HG00408.hp2 HG00544.hp2 HG02155.hp2 NA18959.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0034 a0001c0004t0001 a0001c0001t0001 a0001c0001t0034 a0001c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0080 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0080 a0001c0001t0034g0018 a0001c0004t0001g0050	5	133	0.0376	429	c.613 others(446): Show c.613+4400_613+4401insGTCAATAGAGGAAGGTAGTCAATAGAGG AAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGA GGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAG AGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAATCAATA GAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAAT AGAGGAAGGTAGTCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAA TAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAAT CAATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTA ATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGT A	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	356244	C C	CACTTACT others(422): Show CACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAAC AGTCGTCTTCACAGGCGACCGCGCACCACACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACC GCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACAC TTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGTCTTCACAGGCGACCGCGCACCACACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0029 a0012c0022t0029	a0012c0022t0029g0103 a0012c0022t0029g0103	1	133	0.0075	429	c.-37 others(440): Show c.-3746_-3745insAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTG TTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGT GGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTC GCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGA CGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGT AAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGC GCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTG TGAAGACGACTGTTAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTA GTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3438		chr17	TogoVar
RPH3AL_chr17_207389_357807	356559	T T	TCACAGTC others(422): Show TCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGC CTCCACAGGCGACCGCGCACCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	133	0.0075	429	c.-40 others(440): Show c.-4061_-4060insTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3753		chr17	TogoVar
RPH3AL_chr17_207389_357807	356559	T T	TCACAGTC others(422): Show TCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGC CTCCACAGGCGACCGCGCACCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0007 a0006c0021t0007	a0006c0021t0007g0112 a0006c0021t0007g0112	1	133	0.0075	429	c.-40 others(440): Show c.-4061_-4060insTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3753		chr17	TogoVar
RPH3AL_chr17_207389_357807	356598	T T	TCACAGTC others(422): Show TCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGC CTCCACAGGCGACCGCGCACCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0131 a0001c0001t0010g0131	1	133	0.0075	429	c.-41 others(440): Show c.-4100_-4099insTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3792		chr17	TogoVar
SBNO2_chr19_1102638_1179268	1138634	A A	AGACAGAC others(422): Show AGACAGACACAGTGGGGCCCTCCACGCCTCCATCACAGACAGACACAGTG GGGCCCTCCACGCCTCCATCACAGACGGACACAGTGGGGCCCTCCACGCC TCCATCACAGACAGACACAGTTGGTCCTCCACGCCTCCATCACGGACAGA CACAGTGGGGCCCTCCACGCCTCCATCACGGACAGACACAGTGGGGCCCT CCACGCCTCCATCACAGACGGACACAGTGGGGCCCTCCACGCCTCCATCA CAGACAGACACAGTGGGGCCCTCCACGCCTCCATCACAGACGGACACAGT GGGGCCCTCCACGCCTCCATCACAGACAGACACAGTTGGTCCTCCACGCC TCCATCACGGACAGACACAGTGGGGCCCTCCACGCCTCCATCACGGACAG ACACAGTTGGTCCTCCACGCCTCCATCACG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	203	0.0049	429	c.279 others(446): Show c.279+8674_279+8675insCGTGATGGAGGCGTGGAGGACCAACTGT GTCTGTCCGTGATGGAGGCGTGGAGGGCCCCACTGTGTCTGTCCGTGATG GAGGCGTGGAGGACCAACTGTGTCTGTCTGTGATGGAGGCGTGGAGGGCC CCACTGTGTCCGTCTGTGATGGAGGCGTGGAGGGCCCCACTGTGTCTGTC TGTGATGGAGGCGTGGAGGGCCCCACTGTGTCCGTCTGTGATGGAGGCGT GGAGGGCCCCACTGTGTCTGTCCGTGATGGAGGCGTGGAGGGCCCCACTG TGTCTGTCCGTGATGGAGGCGTGGAGGACCAACTGTGTCTGTCTGTGATG GAGGCGTGGAGGGCCCCACTGTGTCCGTCTGTGATGGAGGCGTGGAGGGC CCCACTGTGTCTGTCTGTGATGGAGGCGTGGAGGGCCCCACTGTGTCTGT C	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1156892	C C	CCCACTCC others(422): Show CCCACTCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCC CTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGAA CGCCCACCCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGAACGCCCAC CCTCTGCAATCCCCCAGGACCCGCCACCCCTGAGAACGCCCACCCTCTGC AATCCCCCAGGACCCGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCC CAGGACCCGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACC CGCCACCCCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCCGCCACC CCTGAGAACGCCCACCCTCTGCAATCCCCCAGGACCGCCACCCCTGAGAA CGCCCACCCTCTGCAATCCCCCAGGACCCG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	203	0.0049	429	c.-12 others(448): Show c.-126-2491_-126-2490insCGGGTCCTGGGGGATTGCAGAGGGTG GGCGTTCTCAGGGGTGGCGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCT CAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGT GGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGT CCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGG GATTGCAGAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCA GAGGGTGGGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTG GGCGTTCTCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTC TCAGGGGTGGCGGGTCCTGGGGGATTGCAGAGGGTGGGCGTTCTCAGGAG TGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(422): Show TTGTTTATAAATACTGTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATAC TGTATTTGTTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	332	0.0030	429	c.632 others(446): Show c.632+8244_632+8245insGTTTATAAATACTGTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTGTTTATAAATA CTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG T	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(422): Show TTGTTTATAAATACTGTGTTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02155.hp2 NA18942.hp1 others(3): Show HG02083.hp1 HG02155.hp2 NA18942.hp1 NA18945.hp1 NA18973.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0206 a0001c0001t0001g0211 others(3): Show a0001c0001t0001g0157 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0237 a0001c0001t0001g0256 a0001c0001t0001g0260	6	332	0.0181	429	c.632 others(446): Show c.632+8244_632+8245insGTTTATAAATACTGTGTTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG T	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(422): Show TTGTTTATAAATACTGTGTTTATAAATACTGTATTTGTTTATAAATACTG TATTTGTTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	332	0.0030	429	c.632 others(446): Show c.632+8244_632+8245insGTTTATAAATACTGTGTTTATAAATACT GTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG T	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCUBE1_chr22_43192280_43348372	43339802	T T	TCCCCCAC others(422): Show TCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCC CCCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTTCAACCCTCCCC CCACTCTCCTCATTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCTA CTCTCCTCATTCTATCCCCCCACAAGCATTGCTTCAACCCTCCCCCACTC TCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCC TCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTC ATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCAT TCTACCCCCCCCACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCACTC TATCCCCCCACAAGCATAGCTCCAACCCTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0005 a0001c0020t0005	a0001c0020t0005g0022 a0001c0020t0005g0022	1	280	0.0036	429	c.89- others(442): Show c.89-568_89-567insGAGGGTTGGAGCTATGCTTGTGGGGGGATAGA GTGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGGGTAGAAT GAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGA GGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGG AGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGA GTGGGGGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTA GGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGG GGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGG AGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AATATAAA others(422): Show AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATACATAAATATAAATATATTATATATATTATACATAAATATAAATAT ATTATATATATTATACATAAATATAAATATATTATATATATTATATATAA TATAAATATATTATATATATTATATATAAATATAAATATATTATATATTA TATATATAAATATAAATATATTATATATTATATAAATATAAATATATTAT ATATTATATAAATATAAATATATTATATATTATATATAAATATAAATATA TTATATATTATATATAATATAAATATATTATATATATTATATATAATATA AATATATTAATATATTATATATAATATAAATATATTATATATATTATATA TAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0286 a0002c0002t0001g0286	1	346	0.0029	429	c.-70 others(446): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATTAATATA TTTATATTATATATAATATATATAATATATTTATATTATATATAATATAT AATATATTTATATTTATATATAATATATAATATATTTATATTTATATAAT ATATAATATATTTATATTTATATAATATATAATATATTTATATTTATATA TATAATATATAATATATTTATATTTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTTATGTATAATATATATA ATATATTTATATTTATGTATAATATATATAATATATTTATATTTATGTAT AATATATATAATATATTTATATTATATATAATATATATAATATATTTATA T	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar

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