Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EPS8L1_chr19_55070869_55092923	55078205	A A	AGGAGGAG others(178): Show AGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCAGAGGGAAGAGGTGCT GGGGGCCTGGACTCCTAGGTTTGAGGGAGGAGGGGCTGGGGGCCTGGACT CCTGAGTCAGAGGGAAGAGGTGCTGGGGGCCTGGACTCCTGGGTCAGAGG GAAGAGGGGCTGGGGGGCTGGACTCCTAGGTTTGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00621.hp1 others(22): Show HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01175.hp1 HG01358.hp1 HG01517.hp2 HG02293.hp1 HG02738.hp2 HG04204.hp1 NA18963.hp2 NA18967.hp1 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA18997.hp1 NA19002.hp1 NA19011.hp1 NA19057.hp2 NA19074.hp2 NA19082.hp2 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0001 a0003c0003t0004	a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0033 others(10): Show a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0051 a0003c0003t0001g0160 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0166 a0003c0003t0001g0176 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0004g0161	25	340	0.0735	185	c.58+ others(196): Show c.58+94_58+95insCCTGGACTCCTGAGTCAGAGGGAAGAGGTGCTGG GGGCCTGGACTCCTAGGTTTGAGGGAGGAGGGGCTGGGGGCCTGGACTCC TGAGTCAGAGGGAAGAGGTGCTGGGGGCCTGGACTCCTGGGTCAGAGGGA AGAGGGGCTGGGGGGCTGGACTCCTAGGTTTGAGGGAGGAGGGGCTGGGG G	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55078408	G G	GCTGGACT others(178): Show GCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGG GTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAGA GGGGCTGGGGGGCTGGACTCCTAGGTTTGAGGGAGGAGGGGCTGGGGGCC TGGACTCCTGAGTCAGAGGGAAGAGGTGCTGGGGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00621.hp1 others(23): Show HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01358.hp1 HG01517.hp2 HG02293.hp1 HG02738.hp2 HG04204.hp1 NA18963.hp2 NA18967.hp1 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA18997.hp1 NA19002.hp1 NA19011.hp1 NA19057.hp2 NA19074.hp2 NA19082.hp2 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0001 a0003c0003t0004	a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0033 others(11): Show a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0051 a0003c0003t0001g0160 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0166 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0004g0161	26	340	0.0765	185	c.58+ others(198): Show c.58+401_58+402insAGGTTTGAGGGAGGAGGGGCTGGGGGCCTGGA CTCCTGAGTCAGAGGGAAGAGGTGCTGGGGGCCTGGACTCCTGGGTCAGA GGGAAGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCT GGGGGGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACT CCT	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55078468	A A	AGAGGGGC others(178): Show AGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGG GTCTGGACTCCTGAGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTG GGTCAGAGGGAAGAGGGGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAAG AGGGGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0164 a0003c0003t0001g0164	1	340	0.0029	185	c.58+ others(198): Show c.58+390_58+391insTCTGGACTCCTGAGTCAGAGGGAAGAGGGGCT GGGGGGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGCCTGGACT CCTGGGTCAGAGGGAAGAGGGGCTGGGGGCCTGGACTCCTGGGTCAGAGG GAGGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGG GGG	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55078838	G G	GGAGGGGC others(178): Show GGAGGGGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGG GGCTGGACTCCTAGGTTTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTG GGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGGGTTTGAGGGAGG AGGGGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	340	0.0029	185	c.59- others(196): Show c.59-58_59-57insAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGG GTTTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAAGA GGGGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGC TGGACTCCTAGGTTTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGT C	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
EXD3_chr9_137301896_137428162	137328362	T T	TATACTCC others(178): Show TATACTCCCATATGATGAGTAAAAACAACTAATATACACCCACATGATGA GTAAAAACAACGAATAAACACCCCCATGATGAGTAAAAACAATGAATATA CACCCACATGAGTAAAAACAACTAATATACTCCCATATGACGAGTAAAAA CAACGAATATACACCCACATGATGAGTAAAAACAAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01256.hp1 others(4): Show HG00323.hp1 HG01069.hp1 HG01256.hp1 HG02257.hp2 HG02615.hp1 HG03688.hp1 HG04184.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0032 a0002c0002 others(2): Show a0001c0001 a0001c0032 a0002c0002 a0004c0020 a0005c0005	a0001c0001t0001 a0001c0032t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0032t0001 a0002c0002t0001 a0004c0020t0001 a0005c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0050 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0032t0001g0075 a0002c0002t0001g0036 a0004c0020t0001g0069 a0005c0005t0001g0035	7	82	0.0854	185	c.199 others(204): Show c.1999-4220_1999-4219insGTTGTTTTTACTCATCATGTGGGTGT ATATTCGTTGTTTTTACTCGTCATATGGGAGTATATTAGTTGTTTTTACT CATGTGGGTGTATATTCATTGTTTTTACTCATCATGGGGGTGTTTATTCG TTGTTTTTACTCATCATGTGGGTGTATATTAGTTGTTTTTACTCATCATA TGGGAGTAT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC2_chr6_480154_698139	639265	T T	TCTCCTGC others(178): Show TCTCCTGCCCTTGCCACTGTGAGCAGGTGTGCAAGCCCCTCCTGCCCTTG CCACTGTGAGCAGGTGTGCAAGCCCCTCCTGCCCTTGCCACTGTGAGCAG GTGTGCAAGCCCCTCCTGCCCTTGCCACTGTGAGCAGGTGTGCAAGCCCC TCCTGCCCTTGCCACTGTGAGCAGGTGTGCAAGCCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00673.hp2 others(21): Show HG00408.hp1 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01123.hp1 HG02040.hp1 HG02135.hp1 HG02602.hp1 HG03704.hp1 HG03834.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18947.hp2 NA18954.hp2 NA18962.hp1 NA18972.hp2 NA18973.hp2 NA18980.hp1 NA18988.hp2 NA18999.hp1 NA19012.hp1 NA19072.hp2 NA19075.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0004 a0001c0002t0010 a0003c0006t0004	a0001c0001t0001g0203 a0001c0001t0001g0244 a0001c0001t0001g0247 others(21): Show a0001c0001t0001g0203 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0003g0074 a0001c0001t0003g0241 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0004g0145 a0001c0001t0005g0195 a0001c0001t0005g0256 a0001c0001t0005g0258 a0001c0001t0010g0144 a0001c0002t0001g0114 a0001c0002t0001g0253 a0001c0002t0004g0113 a0001c0002t0004g0250 a0001c0002t0010g0248 a0003c0006t0004g0236 a0003c0006t0004g0243 a0003c0006t0004g0254	24	272	0.0882	185	c.-43 others(202): Show c.-43-1589_-43-1405dupGGGCTTGCACACCTGCTCACAGTGGCAA GGGCAGGAGGGGCTTGCACACCTGCTCACAGTGGCAAGGGCAGGAGGGGC TTGCACACCTGCTCACAGTGGCAAGGGCAGGAGGGGCTTGCACACCTGCT CACAGTGGCAAGGGCAGGAGGGGCTTGCACACCTGCTCACAGTGGCAAGG GCAGGAG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC3L4_chr14_103089725_103115559	103109651	T T	TCCCTCCC others(178): Show TCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTTCCTC TCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCC CGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCC CTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0003 a0011c0015t0003	a0011c0015t0003g0158 a0011c0015t0003g0158	1	404	0.0025	185	c.197 others(202): Show c.1977-378_1977-377insCTCCCTCCCTCTCCACCCTGCCCCCATG TCTCCCTCCTCCCTTCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCC TCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCT CCCTCCC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EYA4_chr6_133236357_133537128	133410619	T T	TAGAACTA others(178): Show TAGAACTAAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01099.hp2 others(12): Show HG00642.hp1 HG01081.hp1 HG01099.hp2 HG01361.hp1 HG01361.hp2 HG02056.hp1 HG03490.hp1 HG03688.hp1 HG03710.hp1 NA18952.hp2 NA18970.hp1 NA18981.hp2 NA18999.hp1 NA19011.hp1 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0112 a0001c0001t0002g0005 a0001c0001t0002g0006 others(12): Show a0001c0001t0001g0112 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0002g0039 a0001c0001t0002g0073 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0175 a0002c0002t0001g0164 a0002c0002t0004g0035 a0002c0002t0004g0171	15	264	0.0568	185	c.83+ others(202): Show c.83+28192_83+28193insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGAGAACTA AGGTCTT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
F13A1_chr6_6139084_6325662	6261580	G G	GCCCTCCA others(178): Show GCCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGA TTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTC CAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGAC CCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	292	0.0034	185	c.571 others(202): Show c.571+4977_571+4978insTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGG	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261580	G G	GCCCTCCA others(178): Show GCCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGA TTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTC CAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGAC CCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp2 NA18962.hp2 others(1): Show HG02074.hp1 HG02074.hp2 NA18962.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0012 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0012 a0003c0003t0007	a0001c0001t0001g0174 a0002c0002t0001g0183 a0002c0002t0012g0254 others(1): Show a0001c0001t0001g0174 a0002c0002t0001g0183 a0002c0002t0012g0254 a0003c0003t0007g0090	4	292	0.0137	185	c.571 others(202): Show c.571+4977_571+4978insTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGG	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261725	G G	GTGACCCT others(178): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0006 a0004c0004t0008g0006	1	292	0.0034	185	c.571 others(202): Show c.571+4832_571+4833insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261753	C C	CCAAGCGT others(178): Show CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	292	0.0034	185	c.571 others(202): Show c.571+4804_571+4805insCAGCACATCAGAATCACCTGGAGGGTCA CCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTTGGAGC ACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCAC CTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACC ACGCTTG	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
FAM135A_chr6_70408508_70566174	70538917	C C	CTTTTTTT others(178): Show CTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02698.hp2 HG02735.hp2 others(1): Show HG02257.hp2 HG02698.hp2 HG02735.hp2 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0256 a0001c0002t0002g0260 a0001c0002t0002g0262 others(1): Show a0001c0002t0002g0256 a0001c0002t0002g0260 a0001c0002t0002g0262 a0001c0002t0002g0266	4	268	0.0149	185	c.422 others(202): Show c.4228+517_4228+518insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTT	FAM135A	ENSG00000082269.17	transcript	ENST00000418814.7	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARP2_chr2_241351285_241499841	241355590	A A	AGACCTAG others(178): Show AGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCG CCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGA CTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGG ACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	378	0.0027	185	c.-82 others(194): Show c.-823_-822insGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCA GGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCCCG CCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACCGA CTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAG	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding		694		chr2	TogoVar
FBN2_chr5_128252909_128543245	128539836	T T	TATGATAT others(178): Show TATGATATATATGATAGATCATATATTATATCATATATATCATATATATG AGATCATATATGATCTATCATATATATCATATCATATATATCATATCATT ATCACATATCACATATATCATATATCACATATATCACATATATCATATAT CACATATATCACATATATCATATATCACATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0016 a0016	a0016c0045 a0016c0045	a0016c0045t0010 a0016c0045t0010	a0016c0045t0010g0027 a0016c0045t0010g0027	1	236	0.0042	185	c.-22 others(196): Show c.-2234_-2233insTGATATATGTGATATATGATATATGTGATATATG TGATATATGATATATGTGATATATGTGATATATGATATATGTGATATGTG ATAATGATATGATATATATGATATGATATATATGATAGATCATATATGAT CTCATATATATGATATATATGATATAATATATGATCTATCATATATATCA T	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1592		chr5	TogoVar
FBN3_chr19_8060402_8154592	8130639	A A	AGGAAAGG others(178): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0013 a0013	a0013c0127 a0013c0127	a0013c0127t0001 a0013c0127t0001	a0013c0127t0001g0011 a0013c0127t0001g0011	1	380	0.0026	185	c.204 others(202): Show c.2044+595_2044+596insCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FER1L5_chr2_96637764_96709883	96659354	C C	CTTTCTTT others(178): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0158 a0002c0001t0001g0158	1	226	0.0044	185	c.748 others(200): Show c.748-985_748-984insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FGFR4_chr5_177081915_177103144	177097091	C C	CTCCTCCT others(178): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCT CTTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCTCCTCCTCCTCCTCCTCCTCTCCTC CTCCTCCTCCTTCCTCCTTCTCCTCCTGCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0020 a0020	a0020c0049 a0020c0049	a0020c0049t0001 a0020c0049t0001	a0020c0049t0001g0054 a0020c0049t0001g0054	1	372	0.0027	185	c.215 others(202): Show c.2154-191_2154-190insCCTCCTCCTCCTCCTCCTCCTCCTCTTC CTCCTCCTCCTCTTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCTTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTCCTCCTCCTCCTC CTCCTCTCCTCCTCCTCCTCCTTCCTCCTTCTCCTCCTGCCTCCTCTTCC TCCTCCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FLT4_chr5_180596506_180654600	180635489	G G	GAAGTATG others(178): Show GAAGTATGGGTGGATGGGAGGGTGGGTGGATGCATGGATGGATGGAAGTA TGGGTGGATGGATGGGTGGGTGGGTGGATGGATGCATGGATGGATGGAAG TATGGGTGGATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGGATGGA AGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0360	1	388	0.0026	185	c.59- others(200): Show c.59-3712_59-3711insTCCATCCACCCACCCACCCACCCATCCACC CATACTTCCATCCATCCATCCACCCACCCACCCACCCATCCACCCATCCA CCCATACTTCCATCCATCCATGCATCCATCCACCCACCCACCCATCCATC CACCCATACTTCCATCCATCCATGCATCCACCCACCCTCCCATCCACCCA TACTT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
GAK_chr4_844277_937316	926877	C C	CCTCCCCG others(178): Show CCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCAACCCCCCCCACCCCG CTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCGCTC CGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGC ACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02145.hp1 others(6): Show HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02559.hp1 HG02723.hp2 HG02965.hp1 HG02976.hp2 NA21309.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0097 a0001c0008t0001g0098 a0001c0008t0001g0099 others(6): Show a0001c0008t0001g0097 a0001c0008t0001g0098 a0001c0008t0001g0099 a0001c0008t0001g0100 a0001c0008t0001g0101 a0001c0008t0001g0307 a0001c0008t0001g0308 a0001c0008t0001g0309 a0001c0008t0001g0310	9	390	0.0231	185	c.145 others(202): Show c.145+5165_145+5166insCGGGGCAGTGCGGACTGCAGGTGAGCGG GGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGG GCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGAGCG CAGGTGAGCGGGGTGGGGGGGGTTGCGGGGCAGTGCGGAGCGCAGGTGAG CGGGGAG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927060	C C	CCGCACCC others(178): Show CCGCACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCACACCCCTCCC CGCTCACCTGCGCTCCGCACTGCCCCGCAACCCTCCCGGCTCACCTGCGG TCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCC GCACCCCTCCCGGCTCACCTGCGGTCCCCACTGCCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0006 a0004c0009t0006	a0004c0009t0006g0377 a0004c0009t0006g0377	1	390	0.0026	185	c.145 others(202): Show c.145+4982_145+4983insAGGCAGTGGGGACCGCAGGTGAGCCGGG AGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGC AGTGCGGACCGCAGGTGAGCCGGGAGGGTTGCGGGGCAGTGCGGAGCGCA GGTGAGCGGGGAGGGGTGTGGGGCAGTGCGGAGCGCAGGTGAGCTGGGAG GGGTGCG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927060	C C	CCGCACCC others(178): Show CCGCACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCACACCCCTCCC CGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGG TCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCC GCACCCCTCCCGGCTCACCTGCGGTCCCCACTGCCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00733.hp1 others(49): Show HG00408.hp2 HG00609.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG01496.hp2 HG01928.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp1 NA18941.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18966.hp1 NA18975.hp1 NA18986.hp2 NA18992.hp1 NA18998.hp2 NA19002.hp1 NA19005.hp1 NA19011.hp2 NA19054.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19081.hp2 NA19082.hp1	a0001 a0010 a0012 others(3): Show a0001 a0010 a0012 a0014 a0019 a0028	a0001c0001 a0001c0004 a0001c0019 others(6): Show a0001c0001 a0001c0004 a0001c0019 a0001c0036 a0010c0030 a0012c0056 a0014c0029 a0019c0057 a0028c0058	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 a0001c0019t0002 a0001c0036t0001 a0010c0030t0002 a0012c0056t0001 a0014c0029t0002 a0019c0057t0002 a0028c0058t0002	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0139 others(47): Show a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0280 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0004g0138 a0001c0004t0001g0110 a0001c0019t0002g0107 a0001c0019t0002g0127 a0001c0036t0001g0116 a0010c0030t0002g0136 a0012c0056t0001g0134 a0014c0029t0002g0118 a0019c0057t0002g0119 a0028c0058t0002g0126	52	390	0.1333	185	c.145 others(202): Show c.145+4982_145+4983insAGGCAGTGGGGACCGCAGGTGAGCCGGG AGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGC AGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCA GGTGAGCGGGGAGGGGTGTGGGGCAGTGCGGAGCGCAGGTGAGCTGGGAG GGGTGCG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927060	C C	CCGCACCC others(178): Show CCGCACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCGCAACCCTCCC CGCTCACCTGCGCTCCGCACTGCCCGGCAACCCTCCCGGCTCACCTGCGG TCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCC GCACCCCTCCCGGCTCACCTGCGGTCCCCACTGCCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(64): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00741.hp2 HG01081.hp2 HG01255.hp1 HG01261.hp2 HG01496.hp1 HG01891.hp2 HG01975.hp1 HG02040.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02165.hp2 HG02273.hp2 HG02572.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03209.hp1 HG03225.hp2 HG03540.hp1 HG03669.hp1 HG03834.hp2 NA18522.hp2 NA18612.hp2 NA18941.hp2 NA18944.hp1 NA18950.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18969.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18988.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19067.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011 a0013 a0015 a0016 a0021 a0029 a0031	a0001c0001 a0001c0002 a0001c0021 others(14): Show a0001c0001 a0001c0002 a0001c0021 a0001c0034 a0002c0003 a0002c0041 a0003c0006 a0004c0011 a0005c0016 a0009c0022 a0011c0050 a0013c0044 a0015c0047 a0016c0039 a0021c0046 a0029c0059 a0031c0035	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0021t0001 a0001c0034t0002 a0002c0003t0001 a0002c0041t0001 a0003c0006t0001 a0004c0011t0001 a0005c0016t0001 a0009c0022t0001 a0011c0050t0001 a0013c0044t0001 a0015c0047t0001 a0016c0039t0001 a0021c0046t0001 a0029c0059t0001 a0031c0035t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0286 others(64): Show a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0005g0296 a0001c0002t0001g0313 a0001c0021t0001g0292 a0001c0034t0002g0294 a0002c0003t0001g0334 a0002c0041t0001g0284 a0003c0006t0001g0287 a0003c0006t0001g0298 a0003c0006t0001g0319 a0003c0006t0001g0353 a0003c0006t0001g0358 a0003c0006t0001g0360 a0003c0006t0001g0361 a0003c0006t0001g0362 a0003c0006t0001g0363 a0003c0006t0001g0365 a0003c0006t0001g0366 a0003c0006t0001g0368 a0003c0006t0001g0370 a0003c0006t0001g0372 a0003c0006t0001g0373 a0004c0011t0001g0293 a0005c0016t0001g0291 a0005c0016t0001g0300 a0005c0016t0001g0301 a0009c0022t0001g0302 a0011c0050t0001g0359 a0013c0044t0001g0323 a0015c0047t0001g0321 a0016c0039t0001g0327 a0021c0046t0001g0364 a0029c0059t0001g0354 a0031c0035t0001g0289	67	390	0.1718	185	c.145 others(202): Show c.145+4982_145+4983insAGGCAGTGGGGACCGCAGGTGAGCCGGG AGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGC AGTGCGGACCGCAGGTGAGCCGGGAGGGTTGCCGGGCAGTGCGGAGCGCA GGTGAGCGGGGAGGGTTGCGGGGCAGTGCGGAGCGCAGGTGAGCTGGGAG GGGTGCG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927060	C C	CTGCACCC others(178): Show CTGCACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCGCAACCCTCCC CGCTCACCTGCGCTCCGCACTGCCCGGCAACCCTCCCGGCTCACCTGCGG TCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCC GCACCCCTCCCGGCTCACCTGCGGTCCCCACTGCCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	390	0.0026	185	c.145 others(202): Show c.145+4982_145+4983insAGGCAGTGGGGACCGCAGGTGAGCCGGG AGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGC AGTGCGGACCGCAGGTGAGCCGGGAGGGTTGCCGGGCAGTGCGGAGCGCA GGTGAGCGGGGAGGGTTGCGGGGCAGTGCGGAGCGCAGGTGAGCTGGGAG GGGTGCA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927122	G G	GTCCGCAC others(178): Show GTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCC CGCACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCA GCTCACCTGCGCTCCGCACTGCCCCACACCCCTCCCCGCTCACCTGCGCT CCGCACTGCCCCGCACCCCTCCCGGCTCACCAGCGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG00140.hp2 HG00735.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0247 a0001c0005t0002g0248 a0001c0005t0002g0247 a0001c0005t0002g0248	2	390	0.0051	185	c.145 others(202): Show c.145+4920_145+4921insGCGCTGGTGAGCCGGGAGGGGTGCGGGG CAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGTGGGGCAGTGCGGAGCGC AGGTGAGCTGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGA GGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCA GTGCGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927196	G G	GTCCGCAC others(178): Show GTCCGCACTGCCCCGCACCCCTCCCAGCTCACCTGCGGTCCGCACTGCCC CGCACCCCTCCCGGCTCACCTGCAGTCCCCACTGCCTCGCACCCCTCCCC GCTCACCTGCAGTCCCCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGT CCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02155.hp2 HG03239.hp2 others(3): Show HG00099.hp1 HG02155.hp2 HG03239.hp2 HG03486.hp1 HG04184.hp1 NA18994.hp2	a0001 a0024 a0001 a0024	a0001c0001 a0024c0048 a0001c0001 a0024c0048	a0001c0001t0001 a0024c0048t0001 a0001c0001t0001 a0024c0048t0001	a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 others(3): Show a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0024c0048t0001g0272	6	390	0.0154	185	c.145 others(202): Show c.145+4846_145+4847insGCGCAGGTGAGCCGGGAGGGGTGTGGGG CAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGGGGACTGC AGGTGAGCGGGGAGGGGTGCGAGGCAGTGGGGACTGCAGGTGAGCCGGGA GGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCTGGGAGGGGTGCGGGGCA GTGCGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927233	C C	CTCCGCAC others(178): Show CTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCC CGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCG GCTCACCTGCAGTCCCCACTGCCTCGCACCCCTCCCCGCTCACCTGCAGT CCCCACTGCCTCGCACCCCTCCCCGCTCACCTGCAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03486.hp2 HG02559.hp2 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0038 a0001c0005 a0001c0038	a0001c0005t0002 a0001c0038t0001 a0001c0005t0002 a0001c0038t0001	a0001c0005t0002g0054 a0001c0038t0001g0053 a0001c0005t0002g0054 a0001c0038t0001g0053	2	390	0.0051	185	c.145 others(202): Show c.145+4809_145+4810insCTGCAGGTGAGCGGGGAGGGGTGCGAGG CAGTGGGGACTGCAGGTGAGCGGGGAGGGGTGCGAGGCAGTGGGGACTGC AGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGA GGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCA GTGCGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927307	G G	GTCCCCAC others(178): Show GTCCCCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCC CGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCG GCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCCCT CCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp1 HG02886.hp1 HG03453.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0023 a0007c0015t0001g0263 a0007c0015t0001g0023 a0007c0015t0001g0263	2	390	0.0051	185	c.145 others(202): Show c.145+4735_145+4736insGCGCAGGTGAGCCGGGAGGGGTGTGGGG CAGTGCGGAGGGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACTGC AGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGA GGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCA GTGGGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GALNT9_chr12_132191372_132334589	132242174	C C	CTCCCTAT others(178): Show CTCCCTATACCCATTACCCATTACACACACAACACACACTTCCCGGGGCC CTCCCTATACCCATTACACACACAACACACACCCTTCCAGGGGCCCTCCC TATACCCATTACACACACACCACACACCCTTCCAGGGGCCCTCCCTATAC CCATTACACACACAACACGCCCCCTTCCCGGGGCCT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19067.hp1 NA18952.hp2 NA19067.hp1	a0001 a0001	a0001c0013 a0001c0036 a0001c0013 a0001c0036	a0001c0013t0004 a0001c0036t0004 a0001c0013t0004 a0001c0036t0004	a0001c0013t0004g0124 a0001c0036t0004g0158 a0001c0013t0004g0124 a0001c0036t0004g0158	2	183	0.0109	185	c.107 others(204): Show c.1077+5735_1077+5736insAGGCCCCGGGAAGGGGGCGTGTTGTG TGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGT AATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATGG GTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGGTAATGG GTATAGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242887	C C	CAGGGCCC others(178): Show CAGGGCCCTCCCTATACCCATTACACACACACCACACACCCTTCCAGGGG CCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTC CCTATACCCATTACCCATTACACACACAACACACACTTCCCGGGGCCCTC CCTATACCCATTACACACACAACACACACCCTTCCA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18964.hp2 HG02698.hp1 NA18964.hp2	a0001 a0001	a0001c0020 a0001c0041 a0001c0020 a0001c0041	a0001c0020t0001 a0001c0041t0006 a0001c0020t0001 a0001c0041t0006	a0001c0020t0001g0115 a0001c0041t0006g0001 a0001c0020t0001g0115 a0001c0041t0006g0001	2	183	0.0109	185	c.107 others(204): Show c.1077+5022_1077+5023insTGGAAGGGTGTGTGTTGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGGTAA TGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGT ATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATAGG GAGGGCCCT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132243022	C C	CGGGGCCC others(178): Show CGGGGCCCTCCCTATACCTATTGCACACACAACACACACTTCCCGGGGCC ATCCCTATACCCATTACACACACGCCACACACCCTTCCAGGGGCCCTCCC TATACCCATTACACACACACCACACACCCTTCCCGGGGCCCTCCCTATAC CCATTACCCATTACACACACAACACACACCCTTCCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp2 HG03139.hp1 HG03139.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0023 a0001c0002 a0004c0023	a0001c0002t0005 a0004c0023t0005 a0001c0002t0005 a0004c0023t0005	a0001c0002t0005g0066 a0004c0023t0005g0028 a0001c0002t0005g0066 a0004c0023t0005g0028	2	183	0.0109	185	c.107 others(204): Show c.1077+4887_1077+4888insTGGAAGGGTGTGTGTTGTGTGTGTAA TGGGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGTGTGTGTGT AATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGG GTATAGGGATGGCCCCGGGAAGTGTGTGTTGTGTGTGCAATAGGTATAGG GAGGGCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GAS6_chr13_113815549_113869076	113836850	G G	GGGGAGGA others(178): Show GGGGAGGAGGAGGGGAGGGGGGGAGGAGGGGGGAGTGGGGGGGAGGAGGA GAAGAAAGAGGAGGAGGAGATGGGGAGGAGGAGGAGGAAGATGGGGAGGA GGAGGGGGAGTGGGGGGAGGAGGAGAAGAAAGAGGAGGAGGAAGATGGGG AGGAGGAGGAAGATGGGGAGGAGGAGGGGGAATGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0039 a0004c0010t0001g0039	1	143	0.0070	185	c.590 others(202): Show c.590-1216_590-1215insTCCATTCCCCCTCCTCCTCCCCATCTTC CTCCTCCTCCCCATCTTCCTCCTCCTCTTTCTTCTCCTCCTCCCCCCACT CCCCCTCCTCCTCCCCATCTTCCTCCTCCTCCTCCCCATCTCCTCCTCCT CTTTCTTCTCCTCCTCCCCCCCACTCCCCCCTCCTCCCCCCCTCCCCTCC TCCTCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GASK1A_chr3_42974311_43062715	43015281	C C	CCACAGGA others(178): Show CCACAGGAAGGGGCTGTGTGAAGCCACTGTAAGGGGCTTGTGAGGTCACA GGAAGGGGCAGTGTGAAGTCACAGGAAGGGGCGGTGTGAAGTGATAGGAA GGGGCAGTGAGAAGTCACAGGTAGGGGCTGTGTGAAGTCACAGGATCTCT GGCTGTGTGAAGACACAGAAAGGGGCAGTGTGAAGT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	342	0.0029	185	c.4-1 others(200): Show c.4-16972_4-16788dupTGTGTGAAGCCACTGTAAGGGGCTTGTGAG GTCACAGGAAGGGGCAGTGTGAAGTCACAGGAAGGGGCGGTGTGAAGTGA TAGGAAGGGGCAGTGAGAAGTCACAGGTAGGGGCTGTGTGAAGTCACAGG ATCTCTGGCTGTGTGAAGACACAGAAAGGGGCAGTGTGAAGTCACAGGAA GGGGC	GASK1A	ENSG00000144649.10	transcript	ENST00000430121.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
GLB1L3_chr11_134271379_134324564	134308431	C C	CCACCACC others(178): Show CCACCACCACCACCACCACCACCAAATACCACCACCACCACCATGTCCAC CACCACTACCACCACCATCACCATCACCATCACCACCACCACCACCACCA TCACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCAC CATCACCATCATCACCATCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18940.hp1 NA18951.hp1 others(6): Show HG00544.hp1 NA18940.hp1 NA18951.hp1 NA18952.hp1 NA18963.hp1 NA18977.hp2 NA18994.hp1 NA19062.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0042 a0001c0003t0001g0043 others(3): Show a0001c0003t0001g0001 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0046 a0001c0003t0001g0049	9	422	0.0213	185	c.962 others(202): Show c.962-1181_962-1180insCCACCACCAAATACCACCACCACCACCA TGTCCACCACCACTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCATCACCACCAAATACCACCACCACCACCATGTCCACCACCACTA CCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACC ACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GPC6_chr13_93221807_94413020	94288814	A A	ATAATAAA others(178): Show ATAATAAATATATATATATTTGTTATATATATAATAAATATATATATATT TGTTATATATATAATAAATATATATATATTTGTTATATATATAATAAATA TATATATATTTGTTATATATATAATAAATATATATATATTTGTTATATAT ATAATAAATATATATATATTTGTTATATATATAAAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0061 a0001c0001t0020g0061	1	76	0.0132	185	c.100 others(204): Show c.1008+2335_1008+2336insTAATAAATATATATATATTTGTTATA TATATAATAAATATATATATATTTGTTATATATATAATAAATATATATAT ATTTGTTATATATATAATAAATATATATATATTTGTTATATATATAATAA ATATATATATATTTGTTATATATATAATAAATATATATATATTTGTTATA TATATAAAT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	5/8			chr13	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(178): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0166 a0001c0001t0033g0166	1	282	0.0036	185	c.375 others(204): Show c.375-23699_375-23698insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19			chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(178): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0139 a0001c0001t0069g0139	1	282	0.0036	185	c.375 others(204): Show c.375-23699_375-23698insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19			chr11	TogoVar
GRAMD4_chr22_46615386_46684785	46635126	C C	CTGGGGAA others(178): Show CTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGG GGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAA CCGTGTCCTCCCTGCCCCCCACCCCCAGCCACTCCTGTCCTGGGGAACCG TGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0039 a0001c0001t0005g0039	1	328	0.0031	185	c.163 others(202): Show c.163-2691_163-2690insCCCGACCCCGGCCACTCCTGTCCTGGGG AACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACC GTGTCCTCCCTGCCCCCCACCCCCAGCCACTCCTGTCCTGGGGAACCGTG TCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCTTGGGGAACCGTGTCCT CCCTGCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635555	C C	CTCCCTGC others(178): Show CTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGAGGCCGTATCCTCC CTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGC CCCCACCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCC CGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	328	0.0031	185	c.163 others(202): Show c.163-2274_163-2273insACCCCCGGCCACTCCTGTCCTGGGAGGC CGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCGTG TCCTCCCTGCCCCCACCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCT TCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCC TGCCCCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635607	G G	GCCCCCGA others(178): Show GCCCCCGACCCCGGCCACTCCTGTCCTGGGAGGCTGTATCCTCCCTGCCC CCACCCCTGGCCACTCCTGTCCTGGGAGGCCCTATCCTCCCTGCCCCCGC CCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCTTCCCTGCCCCCGCCCCC GGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01934.hp1 HG00438.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0146 a0001c0001t0001g0112 a0001c0001t0001g0146	2	328	0.0061	185	c.163 others(202): Show c.163-2229_163-2228insCGACCCCGGCCACTCCTGTCCTGGGAGG CTGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCCT ATCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCT TCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCC TGCCCCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRM7_chr3_6856115_7746533	7276785	T T	TCCTTCCT others(178): Show TCCTTCCTTCCTTCCTCCCTTCCCTTCCCTTCCTCCCTTCCCTTCCTTCC TTCCCTTCCTCCCTCCCTCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC CTTCCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0037 a0001c0003t0001g0037	1	80	0.0125	185	c.737 others(204): Show c.737-21884_737-21883insCCCTTCCCTTCCCTTCCTCCCTTCCC TTCCTTCCTTCCCTTCCTCCCTCCCTCCTCCCTCCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTTCCCTTCCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTCCCTTCC TTCCTTCCT	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GSE1_chr16_85608322_85681200	85653187	G G	GCCCCCCT others(178): Show GCCCCCCTCCGCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTT CCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	290	0.0035	185	c.427 others(202): Show c.427-1082_427-1081insGCCCCCCTCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(178): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCTTCCCCCCTCCTCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCTCCCTCCTCCTCCCCCCTCCTCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	290	0.0035	185	c.427 others(202): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCC TCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(178): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01123.hp1 HG01515.hp2 others(1): Show HG01069.hp1 HG01123.hp1 HG01515.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0002c0003t0007 a0001c0001t0001 a0001c0002t0002 a0002c0003t0007	a0001c0001t0001g0094 a0001c0002t0002g0165 a0001c0002t0002g0248 others(1): Show a0001c0001t0001g0094 a0001c0002t0002g0165 a0001c0002t0002g0248 a0002c0003t0007g0191	4	290	0.0138	185	c.427 others(202): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCC TCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
HEATR6_chr17_60036008_60083921	60042491	T T	TGTCAGCA others(178): Show TGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTC GCGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGG CTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTG TCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0084 a0001c0001t0066g0084	1	250	0.0040	185	c.10 others(196): Show c.1071_*1072insGGTGCCTCACAGCCGCACAGGACGCGAGGATGCT GACAGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGACGGTGCCTCAC AGCCGCACAGGACGCGAGGATGCTGACGGTGCCTCACAGCCGCACAGGAC GCGAGGATGCTGACAGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGA C	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	1071		chr17	TogoVar
HEATR6_chr17_60036008_60083921	60042602	T T	TGTCAGCA others(178): Show TGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTC GCGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGG CTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACCG TCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0083 a0001c0001t0067g0083	1	250	0.0040	185	c.96 others(194): Show c.960_*961insGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGA CGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGACAGTGCCTCACAG CCGCACAGGACGCGAGGATGCTGACGGTGCCTCACAGCCGCACAGGACGC GAGGATGCTGACGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGAC	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	960		chr17	TogoVar
HEATR6_chr17_60036008_60083921	60042602	T T	TGTCAGCA others(178): Show TGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTC GCGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGG CTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACCG TCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0107 a0001c0001t0070g0107	1	250	0.0040	185	c.96 others(194): Show c.960_*961insGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGA CGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGACGGTGCCTCACAG CCGCACAGGACGCGAGGATGCTGACGGTGCCTCACAGCCGCACAGGACGC GAGGATGCTGACAGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGAC	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	960		chr17	TogoVar
HEATR6_chr17_60036008_60083921	60042602	T T	TGTCAGCA others(178): Show TGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTC GCGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGG CTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACCG TCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 HG01981.hp1 HG02135.hp1 others(14): Show HG00621.hp1 HG01981.hp1 HG02135.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18998.hp2 NA19005.hp2 NA19007.hp1 NA19090.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0001c0007 a0001c0009 others(1): Show a0001c0001 a0001c0007 a0001c0009 a0016c0010	a0001c0001t0003 a0001c0001t0065 a0001c0001t0088 others(3): Show a0001c0001t0003 a0001c0001t0065 a0001c0001t0088 a0001c0007t0003 a0001c0009t0003 a0016c0010t0003	a0001c0001t0003g0010 a0001c0001t0003g0079 a0001c0001t0003g0081 others(13): Show a0001c0001t0003g0010 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0097 a0001c0001t0003g0120 a0001c0001t0003g0136 a0001c0001t0003g0186 a0001c0001t0065g0096 a0001c0001t0088g0094 a0001c0007t0003g0030 a0001c0007t0003g0069 a0001c0009t0003g0223 a0016c0010t0003g0068	17	250	0.0680	185	c.96 others(194): Show c.960_*961insGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGA CGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGACAGTGCCTCACAG CCGCACAGGACGCGAGGATGCTGACGGTGCCTCACAGCCGCACAGGACGC GAGGATGCTGACAGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGAC	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	960		chr17	TogoVar
HEATR6_chr17_60036008_60083921	60042639	T T	TGTCAGCA others(178): Show TGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTC GCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGG CTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACCG TCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0075 a0001c0001t0072g0075	1	250	0.0040	185	c.92 others(194): Show c.923_*924insGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGA CGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGACGGTGCCTCACAG CCGCACAGGACGCGAGGATGCTGACAGTGCCTCACAGCCGCACAGGACGC GAGGATGCTGACGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGAC	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	923		chr17	TogoVar
HERC6_chr4_88373852_88448097	88379742	A A	ATATATAA others(178): Show ATATATAAATATATATAATATATAAATATATAATATATAAATATATATAA TATATAAATATATAATATATAAATATATATAATATATAAATATATAAATA TATAACATATAAATATATATAATATATAAATATATATATAACATATAAAT ATATATAACATATAAATATATATAATATATAAATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	174	0.0058	185	c.199 others(200): Show c.199+622_199+623insTATATAAATATATATAATATATAAATATAT AATATATAAATATATATAATATATAAATATATAATATATAAATATATATA ATATATAAATATATAAATATATAACATATAAATATATATAATATATAAAT ATATATATAACATATAAATATATATAACATATAAATATATATAATATATA AATAT	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22			chr4	TogoVar

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