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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NBDY_chrX_56724243_56824179	56725501	G G	GTAACAAT others(425): Show GTAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATAT TGTTATGTATACATATAACAATATTGTTATATTGTTATATATACATATAA CAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTT ATATATACATATAACAATATTGTTATATTGTTATATATACATATAACAAT ATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATAT ATACATATAACAATATTGTTATATTGTTATATATACATATAACAATATTG TTATATTGTTATATATACATATAACAATATTGTTATATATACATATAACA ATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTAT ATATACATATAACAATATTGTTATATATACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	160	0.0063	432	c.-38 others(443): Show c.-3853_-3852insTAACAATATTGTTATATTGTTATATATACATATA ACAATATTGTTATATTGTTATGTATACATATAACAATATTGTTATATTGT TATATATACATATAACAATATTGTTATATTGTTATATATACATATAACAA TATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATA TATACATATAACAATATTGTTATATTGTTATATATACATATAACAATATT GTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATATATA CATATAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTA TATATACATATAACAATATTGTTATATTGTTATATATACATATAACAATA TTGTTATATTGTTATATATACATATAACAATATTGTTATATATACATA		NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding					3741		chrX	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAT others(425): Show TAATATATATTATATATAAATATATAATATATATAATATAATATATATAA ATATATAATATATATAATATATATTATATATAAATATATAATATATATTA TATATTATATATATTATAATATATAATATATATTATATATTATATATATT ATATATAATATATATAATATATATTATATATTATATATATATAATATATA ATATATATTATATATAAATATATAATATATAATATATATTATATATAAAT ATATAATATATAATATAATATATAATATATAATATATTATATATATTATA TATATTATATTATATATAATATATTATATATTATATATTTATATATAATA TATATATAATATATATTATATATTATATAATATATAATATATTATATATT ATATAATATATATAATATATTATATAATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0147 a0002c0002t0007g0147	1	348	0.0029	432	c.48+ others(447): Show c.48+1020_48+1021insAATATATATTATATATAAATATATAATATA TATAATATAATATATATAAATATATAATATATATAATATATATTATATAT AAATATATAATATATATTATATATTATATATATTATAATATATAATATAT ATTATATATTATATATATTATATATAATATATATAATATATATTATATAT TATATATATATAATATATAATATATATTATATATAAATATATAATATATA ATATATATTATATATAAATATATAATATATAATATAATATATAATATATA ATATATTATATATATTATATATATTATATTATATATAATATATTATATAT TATATATTTATATATAATATATATATAATATATATTATATATTATATAAT ATATAATATATTATATATTATATAATATATATAATATATTATATAATATA TA		NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3						chr21	TogoVar
NFATC1_chr18_79390930_79534323	79494230	T T	TGGCCGGA others(425): Show TGGCCGGAGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACG GCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGC CGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCG GGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTACCGCCGGG GGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTGCGGCCGGGGG AAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAA GGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGG CGAGAGGGGGCACACGCCCCCCATGAACCTGGTACCGCTGGGGGAAGGCG AGAGCGGGCACACGCCCCCCATGAACCTGGTAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0261 a0002c0002t0001g0261	1	322	0.0031	432	c.278 others(451): Show c.2782+7299_2782+7300insAGGAAGGCGAGAGCGGGCACACGCCC CCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TGAACCTGGTGCGGCCGGGGGAAGGCGAGAACGGGCACACGCCCCCCATC AACCTGGTACCGCCGGGGGAAGGCGAGAACGGGCACACGCCCCCCATCAA CCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACC TGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTG GTGCGGCCGGGGGAAGGCGAGAGGGGGCACACGCCCCCCATGAACCTGGT ACCGCTGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTAC GGCCGG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494230	T T	TGGCCGGG others(425): Show TGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTGTG GCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGC CGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTACCGCCG GGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTACCGCCGGG GGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTGCGGCCGGGGG AAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAA GGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGG CGAGAGGGGGCACACGCCCCCCATGAACCTGGTACCGCTGGGGGAAGGCG AGAGCGGGCACACGCCCCCCATGAACCTGGTAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0027 a0002c0012t0027	a0002c0012t0027g0038 a0002c0012t0027g0040 a0002c0012t0027g0038 a0002c0012t0027g0040	2	322	0.0062	432	c.278 others(451): Show c.2782+7330_2782+7331insCAACCTGGTGTGGCCGGGGGAAGGCG AGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAG AGCGGGCACACGCCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAA CGGGCACACGCCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAACG GGCACACGCCCCCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGG CACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCA CACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGGCACA CGCCCCCCATGAACCTGGTACCGCTGGGGGAAGGCGAGAGCGGGCACACG CCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCC CCCCAT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494277	A A	ACGGCCGG others(425): Show ACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTAC GGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGG CCGGGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTACCGCC GGGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTGCGGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGG GAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGA AGGCGAGAGGGGGCACACGCCCCCCATGAACCTGGTACCGCTGGGGGAAG GCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGC GAGAGCGGGCACACGCCCCCCATGAACCTGGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(77): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01346.hp1 HG01361.hp1 HG01884.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG03491.hp2 HG03654.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18943.hp2 NA18946.hp1 NA18947.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19057.hp1 NA19063.hp1 NA19079.hp2 NA19088.hp1 NA20752.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0013 a0016 a0021	a0001c0001 a0001c0004 a0001c0006 others(17): Show a0001c0001 a0001c0004 a0001c0006 a0001c0009 a0001c0023 a0001c0055 a0002c0002 a0002c0003 a0002c0011 a0002c0012 a0002c0022 a0002c0046 a0002c0054 a0003c0007 a0003c0015 a0003c0032 a0004c0042 a0013c0028 a0016c0061 a0021c0049	a0001c0001t0001 a0001c0004t0002 a0001c0004t0052 others(37): Show a0001c0001t0001 a0001c0004t0002 a0001c0004t0052 a0001c0006t0003 a0001c0006t0004 a0001c0009t0010 a0001c0023t0002 a0001c0055t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0002c0002t0013 a0002c0002t0015 a0002c0002t0017 a0002c0002t0038 a0002c0002t0044 a0002c0002t0058 a0002c0002t0060 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0007 a0002c0003t0013 a0002c0003t0022 a0002c0003t0023 a0002c0011t0001 a0002c0012t0002 a0002c0012t0006 a0002c0022t0019 a0002c0046t0001 a0002c0054t0005 a0003c0007t0001 a0003c0007t0002 a0003c0015t0002 a0003c0032t0007 a0004c0042t0057 a0013c0028t0005 a0016c0061t0002 a0021c0049t0006	a0001c0001t0001g0257 a0001c0004t0002g0001 a0001c0004t0052g0088 others(76): Show a0001c0001t0001g0257 a0001c0004t0002g0001 a0001c0004t0052g0088 a0001c0006t0003g0153 a0001c0006t0003g0155 a0001c0006t0003g0167 a0001c0006t0004g0057 a0001c0009t0010g0225 a0001c0023t0002g0023 a0001c0023t0002g0063 a0001c0055t0001g0214 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0220 a0002c0002t0001g0227 a0002c0002t0001g0232 a0002c0002t0001g0248 a0002c0002t0001g0269 a0002c0002t0002g0061 a0002c0002t0002g0073 a0002c0002t0002g0087 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0150 a0002c0002t0003g0175 a0002c0002t0003g0187 a0002c0002t0010g0265 a0002c0002t0013g0159 a0002c0002t0013g0191 a0002c0002t0015g0243 a0002c0002t0015g0249 a0002c0002t0015g0263 a0002c0002t0015g0273 a0002c0002t0017g0166 a0002c0002t0038g0122 a0002c0002t0044g0107 a0002c0002t0058g0245 a0002c0002t0060g0070 a0002c0003t0001g0194 a0002c0003t0001g0209 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0222 a0002c0003t0001g0234 a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0258 a0002c0003t0003g0182 a0002c0003t0004g0193 a0002c0003t0007g0036 a0002c0003t0013g0130 a0002c0003t0013g0165 a0002c0003t0022g0205 a0002c0003t0023g0123 a0002c0003t0023g0124 a0002c0011t0001g0228 a0002c0012t0002g0299 a0002c0012t0006g0045 a0002c0022t0019g0317 a0002c0022t0019g0318 a0002c0022t0019g0319 a0002c0046t0001g0226 a0002c0054t0005g0066 a0003c0007t0001g0206 a0003c0007t0002g0025 a0003c0015t0002g0026 a0003c0015t0002g0027 a0003c0015t0002g0028 a0003c0032t0007g0024 a0004c0042t0057g0246 a0013c0028t0005g0117 a0016c0061t0002g0306 a0021c0049t0006g0102	80	322	0.2485	432	c.278 others(451): Show c.2782+7341_2782+7342insGGCCGGGGGAAGGCGAGAGCGGGCAC ACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAACGGGCACACGC CCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAACGGGCACACGCCC CCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGGCACACGCCCCCCATG AACCTGGTACCGCTGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAA CCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACC TGGTGC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494277	A A	ACGGCCGG others(425): Show ACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTAC GGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGG CCGGGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTACCGCC GGGGGAAGGCGAGAACGGGCACACGCCCCCCATGAACCTGGTGCGGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGG GAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGA AGGCGAGAGGGGGCACACGCCCCCCATGAACCTGGTACCGCTGGGGGAAG GCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGC GAGAGCGGGCACACGCCCCCCATGAACCTGGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02615.hp2 others(7): Show HG02257.hp2 HG02258.hp1 HG02615.hp2 HG02647.hp1 HG02922.hp1 HG02976.hp2 NA18522.hp2 NA18906.hp2 NA20300.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0019 others(2): Show a0002c0002 a0002c0011 a0002c0019 a0002c0038 a0002c0063	a0002c0002t0002 a0002c0002t0031 a0002c0011t0002 others(4): Show a0002c0002t0002 a0002c0002t0031 a0002c0011t0002 a0002c0011t0026 a0002c0019t0005 a0002c0038t0012 a0002c0063t0039	a0002c0002t0002g0054 a0002c0002t0031g0115 a0002c0011t0002g0052 others(6): Show a0002c0002t0002g0054 a0002c0002t0031g0115 a0002c0011t0002g0052 a0002c0011t0002g0053 a0002c0011t0026g0281 a0002c0019t0005g0002 a0002c0019t0005g0314 a0002c0038t0012g0010 a0002c0063t0039g0132	10	322	0.0311	432	c.278 others(451): Show c.2782+7341_2782+7342insGGCCGGGGGAAGGCGAGAGCGGGCAC ACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAACGGGCACACGC CCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAACGGGCACACGCCC CCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGGCACACGCCCCCCATG AACCTGGTACCGCTGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAA CCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACC TGGTGC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494279	C C	GGCCGGGG others(425): Show GGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCC GGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCGGGG GAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGA AGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAG GCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCGGGGGAAGGC GAGAGTGGGCACACGCCCCCCATCGACCTGGTACCGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATGAACCTGGTACC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0204 a0001c0001t0021g0204	1	322	0.0031	432	c.278 others(451): Show c.2782+7341_2782+7342insGGCCGGGGGAAGGCGAGAGCGGGCAC ACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATCGACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGC CCCCCATCGACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCC CCCATCGACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATC GACCTGGTACCGCCGGGGGAAGGCGAGAGTGGGCACACGCCCCCCATCGA CCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACC TGGTAC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9						chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494557	A A	AACCTGGT others(425): Show AACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGA CCTGGTACGGCCGGGGGAAGGCGAGAGCAGGCACACGCCCCCCATCGACC TGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTG GTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGT ACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTAC CGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCC AGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0010 a0010	a0010c0064 a0010c0064	a0010c0064t0036 a0010c0064t0036	a0010c0064t0036g0177 a0010c0064t0036g0177	1	322	0.0031	432	c.278 others(451): Show c.2782+7677_2782+7678insGGCCGGGGGAAGGCGAGAGCAGGCAC ACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGC CCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCC CCCATCGACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATCGACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TCGACCTGGTACCGCCAGGGGAAGGCGAGAGCGGGCACACGCCCCCCATG AACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAA CCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACC TGGTAC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494557	A A	AACCTGGT others(425): Show AACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGA CCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACC TGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTG GTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGT ACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTAC CGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCC AGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0303 a0001c0017t0004g0303	1	322	0.0031	432	c.278 others(451): Show c.2782+7677_2782+7678insGGCCGGGGGAAGGCGAGAGCGGGCAC ACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGC CCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCC CCCATCGACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATCGACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TCGACCTGGTACCGCCAGGGGAAGGCGAGAGCGGGCACACGCCCCCCATG AACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAA CCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACC TGGTAC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(425): Show CTGTATATATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTAC AGCATGTATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACTGTGTATGCAGTATGTATACAGTA TACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGT ATACTGTATATATACACTATACAGTATGTATACTGTATATATACACTATA CAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACA CACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0066 a0001c0003t0005g0066	1	362	0.0028	432	c.-75 others(451): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATAT ACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCA GTATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACATACAGTATACATACATACAGTATACATACATACAGTAT ACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACATA TATACA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(425): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGA TGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGGAAGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGG GAGGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGG GGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGG AGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGG AGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18951.hp1 HG02738.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0040 a0001c0001t0015 a0001c0001t0040	a0001c0001t0015g0126 a0001c0001t0040g0150 a0001c0001t0015g0126 a0001c0001t0040g0150	2	344	0.0058	432	c.154 others(449): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCTCCCTC CCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCCCTCCC CTCC		NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13						chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(425): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGTG GGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGGG AGAAGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAAGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGAGGGGGAGGGG AAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGG GGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGG AGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGG AGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0070 a0001c0023t0070	a0001c0023t0070g0194 a0001c0023t0070g0194	1	344	0.0029	432	c.154 others(449): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTC CCCTTCCCCTCCCCCTCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCC CTTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CTTCTCCCTCCCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCC TCCCCCACCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCCCTCCC CTCC		NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13						chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(425): Show GGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAG GGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGGAGGGGAAGGGGAGGAA GAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGA GGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGA GGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGA GGAAGAAGGGGAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0180 a0001c0001t0010g0180	1	344	0.0029	432	c.154 others(449): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCTCTTCCTCCCCTTCCCCTCCCCCTCCCCCTCCCTTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCC ATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCC TCCC		NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13						chr14	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(425): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGG AGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAG GGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGAGGGAGAGGGAG AGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18983.hp1 NA18942.hp2 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0025 a0001c0002t0007 a0001c0002t0025	a0001c0002t0007g0068 a0001c0002t0025g0072 a0001c0002t0007g0068 a0001c0002t0025g0072	2	386	0.0052	432	c.92 others(443): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTC CCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCCCTCTCCCTCCC TCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACCCCCTCCCTCTCTCTCC CCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCTCTCCCTCTCT CCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCTCCCTCCCTCT CTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCC		NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding					3711		chr12	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(425): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTACTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0101 a0001c0101	a0001c0101t0001 a0001c0101t0001	a0001c0101t0001g0174 a0001c0101t0001g0174	1	268	0.0037	432	c.292 others(447): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTC TCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TC		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(425): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCTC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03834.hp2 HG01123.hp1 HG03834.hp2	a0004 a0007 a0004 a0007	a0004c0014 a0007c0004 a0004c0014 a0007c0004	a0004c0014t0001 a0007c0004t0002 a0004c0014t0001 a0007c0004t0002	a0004c0014t0001g0234 a0007c0004t0002g0233 a0004c0014t0001g0234 a0007c0004t0002g0233	2	268	0.0075	432	c.292 others(447): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTC ACCTGTACTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TC		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
PAK2_chr3_196734857_196837647	196811357	C C	CCCTTCCC others(425): Show CCCTTCCCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCC TTCCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTT CCTTCCCTCCCTTCCTTCCCTTCCTCCCTCCCTTCCTTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCC CTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTTCCCTTCCCTCCC TCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTC CTTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0145 a0001c0001t0056g0145	1	178	0.0056	432	c.773 others(447): Show c.773+712_773+713insCCCTTCCCTCCCTTCCTTCCTCCCTTCCTT CCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCC TTCCTTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTCCCTCCCTTCCTTC CCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCCT TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTTC CCTTCCCTCCCTCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCTTCCT TCCCTTCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTTCCTTCC CT		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
PATJ_chr1_61737480_62168915	62137545	T T	TGGAGGGG others(425): Show TGGAGGGGGGAACACAGAGTGAGGGGGCACAGCAGTCTGAGGGGGAAATG CCTCTGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGA AATGCCTCCGGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGG GGGAAATGCCTCCGGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCT GAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAG GCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGAC AGAGGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGG GGACAGAGGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGA AGGGGGACAGAGGCCTGAGAGGGAAATGCCTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG02615.hp2 others(7): Show HG02145.hp2 HG02451.hp2 HG02615.hp2 HG02965.hp1 HG02970.hp1 HG03209.hp2 HG03471.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0021 a0047 a0056	a0001c0001 a0002c0012 a0002c0030 others(6): Show a0001c0001 a0002c0012 a0002c0030 a0005c0042 a0005c0071 a0006c0041 a0021c0032 a0047c0037 a0056c0034	a0001c0001t0010 a0002c0012t0005 a0002c0012t0010 others(7): Show a0001c0001t0010 a0002c0012t0005 a0002c0012t0010 a0002c0030t0005 a0005c0042t0005 a0005c0071t0005 a0006c0041t0005 a0021c0032t0005 a0047c0037t0005 a0056c0034t0005	a0001c0001t0010g0014 a0002c0012t0005g0130 a0002c0012t0010g0150 others(7): Show a0001c0001t0010g0014 a0002c0012t0005g0130 a0002c0012t0010g0150 a0002c0030t0005g0121 a0005c0042t0005g0136 a0005c0071t0005g0108 a0006c0041t0005g0124 a0021c0032t0005g0146 a0047c0037t0005g0135 a0056c0034t0005g0122	10	158	0.0633	432	c.527 others(451): Show c.5271+8626_5271+8627insCACAGCAGTCTGAGGGGGAAATGCCT CTGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAAT GCCTCCGGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGG AAATGCCTCCGGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAG GGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCC TGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGA GGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGA CAGAGGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGG GGGACAGAGGCCTGAGAGGGAAATGCCTCCGGAGGGGGGAACACAGAGTG AGGGGG		PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43					INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62137570	G G	GGGACAGA others(425): Show GGGACAGAGGCCTGAGGGGGAAATGCCTCTGGAGGGGGGAACACAGAGTG AGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGGACACAG AGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGGAC ACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGG GAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAG GGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCC GGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGAGGGAAATAT CTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAA ATGCCTCCGGAGGGGGGAACACAGAGTGAGGGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0020 a0020	a0020c0128 a0020c0128	a0020c0128t0001 a0020c0128t0001	a0020c0128t0001g0020 a0020c0128t0001g0020	1	158	0.0063	432	c.527 others(451): Show c.5271+8653_5271+8654insTGGAGGGGGGAACACAGAGTGAGGGG GGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGGACACAGAGTGA GGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGGACACAGA GTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACA CAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGG AACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGG GGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGAGGGAAATATCTCTG GAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGCC TCCGGAGGGGGGAACACAGAGTGAGGGAGGACAGAGGCCTGAGGGGGAAA TGCCTC		PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43					INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62137609	G G	GACACAGA others(425): Show GACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGG GGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCG GAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCC TCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAA TGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGAGG GAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCCTGA GAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGC CTGAGAGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAG AGGCCTGAGGGGGAAATGCCTCTGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0048 a0048	a0048c0086 a0048c0086	a0048c0086t0013 a0048c0086t0013	a0048c0086t0013g0013 a0048c0086t0013g0013	1	158	0.0063	432	c.527 others(451): Show c.5271+8702_5271+8703insGCCTCCGGAGGGGGGGACACAGAGTG AGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAG AGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAAC ACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGG GAACACAGAGTGAGGGGGGACAGAGGCCTGAGAGGGAAATGTCTCTGGAG GGGGAAACACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGTCTCT GGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGC CTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAA ATGCCTCTGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGG GGAAAT		PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(425): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATAACATATATGTAATACATATATGTATTATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTATTACATATATA ACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	400	0.0025	432	c.70 others(443): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATAACATATATGTAATACATATATGTATTAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTATTACATATATAACATGTATTACATATATGTAATACATATATAAC		PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding					3166		chr20	TogoVar
PEX26_chr22_18072990_18110396	18106374	C C	CGTGGTTC others(425): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGT TCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTC CAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCA GTCTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGT CTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAGTCG GAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGA ATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0133	a0001c0001t0133g0055 a0001c0001t0133g0055	1	398	0.0025	432	c.18 others(445): Show c.18299_*18300insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACC CACGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACG AGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAG AGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAG CTAAGGACATGGTTCCAGTCTGAGTCTGAAGCCGGAGACCCAGGAGAGCT GATGGTGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGA ATACGTAGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGG ACATGGTTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT		PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding					979		chr22	TogoVar
PGAP6_chr16_365788_386978	378353	C C	CTGCCATC others(425): Show CTGCCATCGCCACCCTGACTGCCATCGCCACCCGCACTGCCATCCCCACC CGCACTGCCATCGCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGC CACCCTGACTGCCATCGCCACCCACACTGCCATCGCCACCCGCACTGCCA TCGCCACCCGCACTGCCATCCCCACCCGCACTGACATCGCCACCCGCACT GCCATCGCCACCCGCACTGACATCGCCACCCGCACTGCCATCGCCACCCG CACTGCCATCGCCACCCGCACTGCCATCGCCACTCTGACTGCCATCCCCA CCCACACTGCCATCCCCACCCGCACTGCCATCGCCACCCGCACTGCCATC GCCACCCGCACTGCCATCGCCACCCGCACTGCCATCCCCACCCGCACTGC CATCGCCACCCTGACTGCCATCGCCACCCACAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp2 HG01346.hp2 others(2): Show HG00099.hp1 HG01070.hp2 HG01346.hp2 HG03017.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0021 a0002c0002t0003 a0002c0002t0021	a0002c0002t0003g0005 a0002c0002t0021g0112 a0002c0002t0003g0005 a0002c0002t0021g0112	5	376	0.0133	432	c.122 others(447): Show c.122-506_122-505insTTGTGGGTGGCGATGGCAGTCAGGGTGGCG ATGGCAGTGCGGGTGGGGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGT GGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGT GGGTGGGGATGGCAGTCAGAGTGGCGATGGCAGTGCGGGTGGCGATGGCA GTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGTCAGTGCGGGTGGCGAT GGCAGTGCGGGTGGCGATGTCAGTGCGGGTGGGGATGGCAGTGCGGGTGG CGATGGCAGTGCGGGTGGCGATGGCAGTGTGGGTGGCGATGGCAGTCAGG GTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGT GCGGGTGGGGATGGCAGTGCGGGTGGCGATGGCAGTCAGGGTGGCGATGG CA		PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12						chr16	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(425): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC CCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCAC ACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGCCCCGCTCACACCCGGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	216	0.0046	432	c.173 others(449): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCC GCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCA CCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGC TCAC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCB4_chr20_9064087_9485808	9188524	T T	TAGTGACA others(425): Show TAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATA GTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATATAGT GACATTCTGGGTTGGTTAACTGTTCACTGTGGAGGGCTGTCATATAGTGA CATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATAGTGACA TTCTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATT CTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCT GGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGG GTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGT TGGTTAACTGTTCATTGTGGAGGGCTGTCATAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp1 HG02818.hp1 HG02145.hp2 HG02717.hp1 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0001c0001t0001 a0001c0001t0002 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0002g0137 a0002c0002t0003g0082 a0001c0001t0001g0001 a0001c0001t0002g0137 a0002c0002t0003g0082	3	140	0.0214	432	c.-78 others(451): Show c.-78-28819_-78-28818insTAGTGACATTCTGGGTTGGTTAAGTG TTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTT CACTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTTCA TTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAATTGTTCATT GTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGT GGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGTGG AGGGCTGTCATACAGTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAG GGCTGTCATACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGG CTGTCATACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCT GTCATA		PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39					INFO_REALIGN_3_PRIME	chr20	TogoVar
PRAM1_chr19_8485056_8507640	8499451	C C	CGGCTTCT others(425): Show CGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGA GGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCA GGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCTGCGGGGGCTT CTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAG TGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGC GGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGG GAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCT CAGGCTGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGC TTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03195.hp2 HG03195.hp2	a0044 a0044	a0044c0078 a0044c0078	a0044c0078t0002 a0044c0078t0002	a0044c0078t0002g0259 a0044c0078t0002g0259	1	422	0.0024	432	c.356 others(439): Show c.356_357insCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCC CGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCAGCCTGAGGTC ACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAA GAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGC CTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGAC CTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCC CCCGCAGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGG TCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCC AAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCC	p.Pro others(445): Show p.Pro119_Ser120insProProProGluValThrAspLeuProLysLy sProProProProGluValThrAspLeuProLysLysProProGlnProG luValThrAspLeuProLysLysProProProProGluValThrAspLeu ProLysLysProProProProGluValThrAspLeuProLysLysProPr oProProGluValThrAspLeuProLysLysProProProProGluValT hrAspLeuProLysLysProProProProGluValThrAspLeuProLys LysProProGlnProGluValThrAspLeuProLysLysProProProPr oGluValThrAspLeuProLysLysProProProProGluValThrAspL euProLysLysProProProProGluValThrAspLeuProLysLysPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	405/2195	356/2013	119/670			chr19	TogoVar
RAB11FIP3_chr16_420649_528011	492360	T T	TCCTCCCG others(425): Show TCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCC AGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCC CTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAGGC CGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGG GGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAG AGCCCTCCCGGGAGACCCGAGGCCGCCCAGGCC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	295	0.0034	432	c.126 others(451): Show c.1265+3361_1265+3362insCTCCCGGGAGACCCGAGGCCGTCCAG AGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTC CCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCG TCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGG AGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAG CCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGA GGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCC CGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCC AGGCCC		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492388	A A	AGCCCTCC others(425): Show AGCCCTCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCC GAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGC CCAGAGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGAGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGA GCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGA GGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCC CGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTC CAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0191 a0001c0001t0008g0191	1	295	0.0034	432	c.126 others(451): Show c.1265+3413_1265+3414insTCCAGAGCCCTCCCCGGGAGACCCGA GGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCC AGAGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGAGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGC CCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAGG CCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG GGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCA GAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGCCCTCCCCGGGAGACCCG AGGCCG		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492388	A A	AGCCCTCC others(425): Show AGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGA GGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCC CGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0260 a0001c0001t0003g0260	1	295	0.0034	432	c.126 others(451): Show c.1265+3396_1265+3397insGGGAGACCCGAGGCCGCCCAGAGCCC TCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCC GTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCC		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492394	C C	CCCCGGGA others(425): Show CCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCC GTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGA GCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCC GAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCC CCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGC CCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAG ACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0168 a0001c0001t0050g0168	1	295	0.0034	432	c.126 others(451): Show c.1265+3413_1265+3414insTCCAGAGCCCTTCCCGGGAGACCCGA GGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAG ACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCC CTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGG CCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCG GGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCG AGGCCG		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RANBP10_chr16_67718070_67811560	67782758	T T	TCACTTTT others(425): Show TCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTA AAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCT CTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCC ATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAG AGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTT TAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAAGCCA CTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTTAAAA GCCACTTTTAAGAGCCATCTCTTAAAAGCCACTTTTAAGAGCCATCTCTT AAAAGCCACTTTTAAGAGCCATCTCTTAAAAGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18522.hp1 HG02486.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0103 a0001c0001t0003g0059 a0001c0001t0001g0103 a0001c0001t0003g0059	2	152	0.0132	432	c.348 others(451): Show c.348-10673_348-10672insGCTTTTAAGAGATGGCTCTTAAAAGT GGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAA AAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTC TTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATG GCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGA GATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTT AAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAGTGGC TTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTAAAAG TGGCTTTTAAGAGATGGCTCTTAAAAGTGGCTTTTAAGAGATGGCTCTTA AAAGTG		RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding	2/13						chr16	TogoVar
RAPGEF1_chr9_131571775_131745076	131587221	A A	AACACACA others(425): Show AACACACACACACACACACACCTGCAGAGCGAGACTCCGTCTCAAACACA CACACACACACACACACCTGCAGAGCGAGACTCCGTCTCAAACACACACA CACACACACCTGCAGAGCGAGACTCCGTCTCAAACACACACACACACACC TGCAGAGCGAGACTCCGTCTCAAACACACACACACACACCTGCAGAGTGA GACTCCGTCTCAAACACACACACACACACACACACCCCCCTGCAGAGCGA GACTCCGTCTCAAACACACACACACACACACCTGCAGAGCGAGACTCCGT CTCACACACACACCTGCAGAGCGAGACTCCGTCTCAAACACACACACACA CACACACACACACACACCTGCAGAGCGAGACTCCGTCTCAAACACACACA CACACACCTGCAGAGCGAGACTCCGTCTCAAAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01943.hp2 HG02451.hp1 others(1): Show HG01109.hp1 HG01943.hp2 HG02451.hp1 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0008 a0001c0005 a0002c0008	a0001c0005t0012 a0001c0005t0032 a0002c0008t0012 a0001c0005t0012 a0001c0005t0032 a0002c0008t0012	a0001c0005t0012g0069 a0001c0005t0032g0066 a0002c0008t0012g0067 others(1): Show a0001c0005t0012g0069 a0001c0005t0032g0066 a0002c0008t0012g0067 a0002c0008t0012g0068	4	368	0.0109	432	c.323 others(449): Show c.3233+514_3233+515insGTTTGAGACGGAGTCTCGCTCTGCAGGT GTGTGTGTGTGTGTTTGAGACGGAGTCTCGCTCTGCAGGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTTTGAGACGGAGTCTCGCTCTGCAGGTGTGTGT GTGAGACGGAGTCTCGCTCTGCAGGTGTGTGTGTGTGTGTGTTTGAGACG GAGTCTCGCTCTGCAGGGGGGTGTGTGTGTGTGTGTGTGTGTTTGAGACG GAGTCTCACTCTGCAGGTGTGTGTGTGTGTGTTTGAGACGGAGTCTCGCT CTGCAGGTGTGTGTGTGTGTGTTTGAGACGGAGTCTCGCTCTGCAGGTGT GTGTGTGTGTGTGTTTGAGACGGAGTCTCGCTCTGCAGGTGTGTGTGTGT GTGTGTGTGTTTGAGACGGAGTCTCGCTCTGCAGGTGTGTGTGTGTGTGT GTGT		RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	22/26						chr9	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(425): Show TGTATGTATATATATGTATGTATATATATACATATATGTATGTATGTATG TGTATGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATA CATATGTATGTGTATGCATACGTATGTATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTGTA TACATACATACGTATGTATGTGTACACATACGTATGTATGTGTAGACATA CATACGTATGTATGTGTACACATACGTATGTATGTGTACACATACATATG TATGTATGTGTACACATACGTATGTATGTGTACACATACATATGTATGTA TGTGTACACATACGTATGTATGTGTACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	432	c.-23 others(443): Show c.-2310_-2309insGTATGTGTACACATACATACGTATGTGTACACAT ACATACATATGTATGTGTACACATACATACGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTCTACACATACATACGTATGTGTACACATACATACGTATGTATGTAT ACACATACATACGTATGTATACACATACATACGTATGTATACACATACAT ACATACGTATGTATACACATACATACATACGTATGTATACACATACATAC ATACGTATGTATACACATACATACATACGTATGCATACACATACATATGT ATGCATACACATACATATGTATGCATACACATACATATGTATGCATACAC ATACATACATACATATATGTATATATATACATACATATATATACATAC		RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding					2085		chr3	TogoVar
RPH3AL_chr17_207389_357807	288705	T T	TCTCTCTC others(425): Show TCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGA CCTCACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGT CAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTC CACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTC TCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACC TCACTCCCTCTCTCCACCGTCAGACCTCACACC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp2 HG02723.hp1 others(3): Show HG02572.hp1 HG02622.hp2 HG02723.hp1 HG02886.hp2 HG03540.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0013 a0001c0001 a0002c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0001c0001t0027 a0002c0013t0001	a0001c0001t0001g0104 a0001c0001t0005g0132 a0001c0001t0017g0070 others(3): Show a0001c0001t0001g0104 a0001c0001t0005g0132 a0001c0001t0017g0070 a0001c0001t0017g0099 a0001c0001t0027g0118 a0002c0013t0001g0016	6	133	0.0451	432	c.352 others(449): Show c.352-6852_352-6851insGGTGTGAGGTCTGACGGTGGAGAGAGGG AGTGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAG AGAGGGTGCGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGT GGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGTGAGGTCTGA CGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGAGGGTGCGAG GTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTG TGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGAG GGTGCGAGGTCTGACGGTGGAGAGAGGGTGTGAGGTCTGACGGTGGAGAG AGGGTGCGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAG AGAG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743766	C C	CTCCTGGT others(425): Show CTCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAG CACTCTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTA CTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTG GCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGC CCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCA CAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGTTACG AGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGC TACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCC TGGCTACTAGCACAGCCCTGGCTACTAGCACTG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0131 a0001c0002t0008g0131	1	196	0.0051	432	c.655 others(451): Show c.655-10229_655-10228insCTGTCCTGGTTACTAGCACAGCCCTG GCTACTAGCACTCTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACAGC CCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACTAGCA GAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACT AGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGT TACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGCACAGCCC TGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACA GCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAG CACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTA CTAGCA		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744205	T T	TTACTAGC others(425): Show TTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0064 a0001c0002t0010g0064	1	196	0.0051	432	c.655 others(449): Show c.655-9796_655-9795insAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTA GCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744271	C C	CCCTGGTT others(425): Show CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGCCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGCCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	196	0.0051	432	c.655 others(449): Show c.655-9724_655-9723insAGCCCTGGTTACTAGCACAGCCCTGGTT ACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGCCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGCCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTA GCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744307	C C	CCCTGGTT others(425): Show CCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGC ACTATCCTGGTTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTAC TAGCAGAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGG TTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCC CTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCT GGCTACTAGTACAGCCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01255.hp1 HG00735.hp2 HG01255.hp1	a0001 a0001	a0001c0090 a0001c0093 a0001c0090 a0001c0093	a0001c0090t0001 a0001c0093t0070 a0001c0090t0001 a0001c0093t0070	a0001c0090t0001g0161 a0001c0093t0070g0155 a0001c0090t0001g0161 a0001c0093t0070g0155	2	196	0.0102	432	c.655 others(449): Show c.655-9694_655-9693insGAGCACAGCCCTGGTTACTAGCAGAGCC CTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGCTACTAGCAG AGCCCTGGCTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGTTACGA GCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGC AGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGG TTAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744487	C C	CCCTGGTT others(425): Show CCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGCCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGA GCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGCCT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0002 a0001c0073t0002	a0001c0073t0002g0070 a0001c0073t0002g0070	1	196	0.0051	432	c.655 others(449): Show c.655-9518_655-9517insTTACTAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGCCTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGCCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTC CTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744613	C C	CCCTGGTT others(425): Show CCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG CTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0004 a0001c0058t0004	a0001c0058t0004g0156 a0001c0058t0004g0156	1	196	0.0051	432	c.655 others(449): Show c.655-9388_655-9387insGAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RTEL1_chr20_63653312_63701245	63693714	A A	ACCTCCAC others(425): Show ACCTCCACCACCACCTCCACCTCCACCACCACCACCACCACCACCTCCAC CACCACCTCCACCACCACCTCCACCACCACCTCCACCTCCACCACCACCA CCACCACCACCTCCACCACCACCTCCACCACCACCACCACCTCCACCTCC ACCACCTCCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCAC CACCACCTCCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCT CCACCACCTCCACCACCACCTCCACCTCCACCTCCACCTCCACCACCTCC ACCACCTCCACCACCTCCACCACCACCACCTCCACCACCTCCACCTCCAC CTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCT CCACCTCCACCACCTCCACCTCCACCTCCACCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0023 a0001c0016t0002g0023	1	60	0.0167	432	c.299 others(449): Show c.2992+433_2992+434insTCCACCACCACCTCCACCTCCACCACCA CCACCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACC TCCACCTCCACCACCACCACCACCACCACCTCCACCACCACCTCCACCAC CACCACCACCTCCACCTCCACCACCTCCACCTCCACCTCCACCACCACCT CCACCACCACCACCTCCACCACCACCTCCACCACCTCCACCTCCACCTCC ACCTCCACCTCCACCACCTCCACCACCTCCACCACCACCTCCACCTCCAC CTCCACCTCCACCACCTCCACCACCTCCACCACCTCCACCACCACCACCT CCACCACCTCCACCTCCACCTCCACCACCACCTCCACCACCACCTCCACC ACCACCTCCACCACCACCTCCACCTCCACCACCTCCACCTCCACCTCCAC CTCC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(425): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGG AGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGA GGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGA AGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAG AAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGA GGAGGAGGAGAAGGAGGAGGAGAAGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01175.hp2 HG02027.hp1 HG00544.hp1 HG01175.hp2 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0362 a0001c0001t0008g0019 a0001c0001t0008g0042 a0001c0001t0006g0362 a0001c0001t0008g0019 a0001c0001t0008g0042	3	396	0.0076	432	c.807 others(449): Show c.807-1376_807-1375insTCCTCCTTCTTCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTT CCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTC CTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCCCCTCCCT CCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCT CCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCT CCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCT CCTC		RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8						chr6	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(425): Show CCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCTTCCCTCT CCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCT CCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCT CCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTT CCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTT CCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTT CCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCC CTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTT CCCCCCTCCTCCCTTCCCCCTCCCTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	232	0.0043	432	c.77 others(443): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCT TCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCT TCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCT TCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCC CCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCC TCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTTCCC CCTCCCTCCTCCCTTCCCCCCTCCTCCCTTCCCCCTCCCTCCTTCCTT		RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding					3793		chr9	TogoVar
SBNO2_chr19_1102638_1179268	1166045	T T	TCCCAGAC others(425): Show TCCCAGACCCCAAGATCCCAGACCCCAGATCCTAGACCCCAGACCTCAGA CCCCAGATCTCAGACCCCAGATCCCAGACCCCAGATCTCAGACCCCAGAT CCCAGACCCCAGATCCTAGATCTCAGACCCCAGATCTCAGACCCCAGACC CCAGATCCCAGACCCCAAGATCCCAGACCCCAGATCCTAGATCCCAGACC TCAGACCCCAGATCTCAGACCCCAGATCTCAGACCCCAGATCCCAGATCC CAAAACCCAGACCCCAGACCTCAGACCTCAGACCCCCAGACCCCAGATCC CAGACCCCAGACCTCAGACCCCAGATCCCAGACCCCAGATCACCAGATCT CAGACCCCAGACCCCAGATCCCAGACTTCAGATCCCTAGACCTCAGACCC CAGACCCCAGATCCCAGACCCCAAACCTCAGAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0179 a0001c0026t0001g0179	1	203	0.0049	432	c.-12 others(451): Show c.-127+8126_-127+8127insGTCTGAGGTTTGGGGTCTGGGATCTG GGGTCTGGGGTCTGAGGTCTAGGGATCTGAAGTCTGGGATCTGGGGTCTG GGGTCTGAGATCTGGTGATCTGGGGTCTGGGATCTGGGGTCTGAGGTCTG GGGTCTGGGATCTGGGGTCTGGGGGTCTGAGGTCTGAGGTCTGGGGTCTG GGTTTTGGGATCTGGGATCTGGGGTCTGAGATCTGGGGTCTGAGATCTGG GGTCTGAGGTCTGGGATCTAGGATCTGGGGTCTGGGATCTTGGGGTCTGG GATCTGGGGTCTGGGGTCTGAGATCTGGGGTCTGAGATCTAGGATCTGGG GTCTGGGATCTGGGGTCTGAGATCTGGGGTCTGGGATCTGGGGTCTGAGA TCTGGGGTCTGAGGTCTGGGGTCTAGGATCTGGGGTCTGGGATCTTGGGG TCTGGG		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31						chr19	TogoVar
SBSN_chr19_35518367_35533311	35527213	C C	CATGGTGG others(425): Show CATGGTGGACCCCCTGGCCAAACTTCTCTGTCTCCTTCCAGCCCTCACTG AGACCATGGTGGACCCCCTGGCCAAACCTCCCAGCCTCATTTCCGGCCTG CCCCGCAGCATGGTGGGCCCCCTGGCCAAATCTCCCTGCCTCATTTCCGG CCTGCCCCGCAGCATGGTGGGCCCCCTGGCCAAACTTCTCTGCCTCCTTC CCAACCTGACCAGCAGTATGGTGGACCCCCTGGCCAAACTTCTCTGTCTC CTTCCAGCCCTCACTGAGACCATGGTGGACCCCCTGGCCAAACCTCCCAG CCTCATTTCCGGCCTGCCCCGCAGCATGGTGGGCCCCCTGGCCAAATCTC CCTGCCTCATTTCCGGCCTGCCCCGCAGCATGGTGGGCCCCCTGGCCAAA CTTCTCTGCCTCCTTCCCAACCTGACCAGCAGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02630.hp1 HG02630.hp1	a0015 a0015	a0015c0032 a0015c0032	a0015c0032t0001 a0015c0032t0001	a0015c0032t0001g0058 a0015c0032t0001g0058	1	450	0.0022	432	c.106 others(441): Show c.1068_1069insACTGCTGGTCAGGTTGGGAAGGAGGCAGAGAAGTTT GGCCAGGGGGCCCACCATGCTGCGGGGCAGGCCGGAAATGAGGCAGGGAG ATTTGGCCAGGGGGCCCACCATGCTGCGGGGCAGGCCGGAAATGAGGCTG GGAGGTTTGGCCAGGGGGTCCACCATGGTCTCAGTGAGGGCTGGAAGGAG ACAGAGAAGTTTGGCCAGGGGGTCCACCATACTGCTGGTCAGGTTGGGAA GGAGGCAGAGAAGTTTGGCCAGGGGGCCCACCATGCTGCGGGGCAGGCCG GAAATGAGGCAGGGAGATTTGGCCAGGGGGCCCACCATGCTGCGGGGCAG GCCGGAAATGAGGCTGGGAGGTTTGGCCAGGGGGTCCACCATGGTCTCAG TGAGGGCTGGAAGGAGACAGAGAAGTTTGGCCAGGGGGTCCACCAT	p.His others(445): Show p.His356_Ala357insThrAlaGlyGlnValGlyLysGluAlaGluLy sPheGlyGlnGlyAlaHisHisAlaAlaGlyGlnAlaGlyAsnGluAlaG lyArgPheGlyGlnGlyAlaHisHisAlaAlaGlyGlnAlaGlyAsnGlu AlaGlyArgPheGlyGlnGlyValHisHisGlyLeuSerGluGlyTrpLy sGluThrGluLysPheGlyGlnGlyValHisHisThrAlaGlyGlnValG lyLysGluAlaGluLysPheGlyGlnGlyAlaHisHisAlaAlaGlyGln AlaGlyAsnGluAlaGlyArgPheGlyGlnGlyAlaHisHisAlaAlaGl yGlnAlaGlyAsnGluAlaGlyArgPheGlyGlnGlyValHisHisGlyL euSerGluGlyTrpLysGluThrGluLysPheGlyGlnGlyValHisHis	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding	1/4	1098/1946	1068/1773	356/590			chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(425): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGG TGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGG GGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGGGTGAGGGGGGTGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGG GTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTT GGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	290	0.0035	432	c.464 others(445): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTG AGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAG GGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGGGTGAGGGGGGTGGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGT GAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289611	T T	TCCGTCCC others(425): Show TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0251 a0001c0017t0001g0251	1	290	0.0035	432	c.166 others(449): Show c.1663-643_1663-642insCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243338980	A A	AGACCTCA others(425): Show AGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGG CAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAG TGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAG CTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAG ACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGA GCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGA GGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGC AGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGG CGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03704.hp1 HG02683.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0093 a0001c0002t0002g0073 a0001c0002t0002g0093	2	189	0.0106	432	c.122 others(451): Show c.1222-1895_1222-1894insCCTCAGAAAGTGGGGTGGGCGGCAGG AGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGG CAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGG GCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGG GTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAG TGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAG AAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACC TCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAG GACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGC AGAGGA		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SEC63_chr6_107862756_107963208	107863973	T T	TGTGTGTG others(425): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TTAAAGACAGAGTCTAGCTCTGTTGTCCAGGCTGCAGTGCAGTGGTGCAA ACACAGCTCATGGGAGCCTCGACCTCCTGGGCTCAAGTGATCCTCCCACC TCAGCCTCCCAAAGTGCTGGAACTATAGGTGCATGCCACCATGCCTGGTC CCCCTTCACCCTTTTGGCTAAGATGAAGTCACCTAACCTGGAAGCCCACA TATCTTGGCACAATGGGATCTCATTTCAACACAGCATGGGGGTTCTGAGA TAGAGGGAGGGATCTGACTCAAGTATAACCATGGGCCCATTCTCCAAGAA CATTAGTGGCTGTGGTGGGCTATGATAGAGCAGGTGGTCACACTAGACCT GATCTGGCCAGCTTCCACTTTAATAAGGGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0142 a0001c0001t0040g0142	1	332	0.0030	432	c.77 others(443): Show c.7730_*7731insGCAGCCCTTATTAAAGTGGAAGCTGGCCAGATCA GGTCTAGTGTGACCACCTGCTCTATCATAGCCCACCACAGCCACTAATGT TCTTGGAGAATGGGCCCATGGTTATACTTGAGTCAGATCCCTCCCTCTAT CTCAGAACCCCCATGCTGTGTTGAAATGAGATCCCATTGTGCCAAGATAT GTGGGCTTCCAGGTTAGGTGACTTCATCTTAGCCAAAAGGGTGAAGGGGG ACCAGGCATGGTGGCATGCACCTATAGTTCCAGCACTTTGGGAGGCTGAG GTGGGAGGATCACTTGAGCCCAGGAGGTCGAGGCTCCCATGAGCTGTGTT TGCACCACTGCACTGCAGCCTGGACAACAGAGCTAGACTCTGTCTTTAAC ACACACACACACACACACACACACACACACACACACACACACACACAC		SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding					3782		chr6	TogoVar
SERINC2_chr1_31408213_31439678	31432066	C C	CAGGGTGG others(425): Show CAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGAGAGGG TGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGTTAGGGT GGACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGAGAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGACAGGGTGGTG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0094 a0001c0010t0002g0094	1	376	0.0027	432	c.101 others(449): Show c.1014-893_1014-892insGAGGGTGGAGAGGGTGGAGAGGGTGGTT AGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGA GGGTGGTTAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTG GACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGG AGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTGAGGG TGGA		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar

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