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
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(388): Show TATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATA TAAAATATATAAAATAGATATTATATATAAAATATATATAATATATATAT AAAATAGATATTATATATAAAATATATATTATATATTATATAAAATATAT ATTATATATTATATAATATATAATATATATTATATATTATATAATATATA ATATATATTATATATATTATATATTATATATTAAATATATATTATATATA TAAAATATATATAAAATATATATTATATAAAATATATATAAAATATATAT TATATAAAATATATATAAAATATATATTATATAAAATATATATTATATAT AAAATATATACTATATATAAAATATATACTATATATAAAATATATA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	201	0.0050	395	c.963 others(414): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT TATATAATATATAATATATATTATATATATTATATATTATATATTAAATA TATATTATATATATAAAATATATATAAAATATATATTATATAAAATATAT ATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAAT ATATATTATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATAATATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KDM4B_chr19_4964113_5158598	5131555	A A	AGCGGGGG others(388): Show AGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGA GGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGCAGGGAGGAG GGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGG GAGCTGGTGGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCA GGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGCA GGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGG GCACAGGGGAGCTGGTGGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGG GTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	245	0.0041	395	c.178 others(411): Show c.1785+99_1785+100insCAGGGAGGAGGGGGGCAGGTGGGGTGGGG CAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGG CAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTG GGGCACAGGGGAGCTGGTGGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTG GGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGC GGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGG GGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGCAGGGAGGAGGGG GGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAG CTGGTGGCGGGGGAGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KIF16B_chr20_16267104_16578448	16288419	G G	GTGATAAG others(388): Show GTGATAAGGTTATTGGGATCCCATCATAAGTGGAAGAGCATCTGTATGGT ATGTACCTTGGTAAACACAGTATGTACTGGTGATAAGGTTATTGGGATCC CATCATAAGTGGAAGAGCATCTGTATGGTATGTACCTTAGTAAGTACAGT ATGTACTGGTGATAAGGTTATTGGGATCCCATCATAAGTGGAAGAGCATC TGTATGGTATGTACCTTAGTAAACACAGTATGTACTGATGATAAGGTTAT TGGGATCCCATCATAAGTGGAACAGCATCTGTATGGTATGTACCTTAGTA AACACAGTATGTACTGGTGATAAGGTTATTGGGATCCCATCATAAGTGGA AGAGCATCTGTATGGTATGTACCTTAGTAAACACAGTATGTACTGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02027.hp1 NA19084.hp1 HG01192.hp1 HG02027.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0048 a0001c0001t0001g0147 a0001c0002t0003g0155 a0001c0001t0001g0048 a0001c0001t0001g0147 a0001c0002t0003g0155	3	239	0.0126	395	c.379 others(416): Show c.3796-15009_3796-15008insTCAGTACATACTGTGTTTACTAAG GTACATACCATACAGATGCTCTTCCACTTATGATGGGATCCCAATAACCT TATCACCAGTACATACTGTGTTTACTAAGGTACATACCATACAGATGCTG TTCCACTTATGATGGGATCCCAATAACCTTATCATCAGTACATACTGTGT TTACTAAGGTACATACCATACAGATGCTCTTCCACTTATGATGGGATCCC AATAACCTTATCACCAGTACATACTGTACTTACTAAGGTACATACCATAC AGATGCTCTTCCACTTATGATGGGATCCCAATAACCTTATCACCAGTACA TACTGTGTTTACCAAGGTACATACCATACAGATGCTCTTCCACTTATGAT GGGATCCCAATAACCTTATCA	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	25/25			chr20	TogoVar
KIF16B_chr20_16267104_16578448	16288498	G G	GTGATAAG others(388): Show GTGATAAGGTTATTGGGATCCCATCATAAGTGGAAGAGCATCTGTATGGT ATGTACCTTAGTAAGTACAGTATGTACTGGTGATAAGGTTATTGGGATCC CATCATAAGTGGAAGAGCATCTGTACGGTATGTACCTTAGTAAACACAGT ATGTACTGATGATAAGGTTATTGGGATCCCATCATAAGTGGAACAGCATC TGTATGGTATGTACCTTAGTAAACACAGTATGTACTGGTGATAAGGTTAT TGGGATCCCATCATAAGTGGAAGAGTATCTGTATGGTATGTACCTTAGTA AACACAGTATGTACTGATGATAAGGTTATTGGGATCCCATCATAAGTGGA AGAGCATCTGTATGGTATGTACCTTAGTAAACACAGTATGTACTGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	167	0.0060	395	c.379 others(416): Show c.3796-15088_3796-15087insTCAGTACATACTGTGTTTACTAAG GTACATACCATACAGATGCTCTTCCACTTATGATGGGATCCCAATAACCT TATCATCAGTACATACTGTGTTTACTAAGGTACATACCATACAGATACTC TTCCACTTATGATGGGATCCCAATAACCTTATCACCAGTACATACTGTGT TTACTAAGGTACATACCATACAGATGCTGTTCCACTTATGATGGGATCCC AATAACCTTATCATCAGTACATACTGTGTTTACTAAGGTACATACCGTAC AGATGCTCTTCCACTTATGATGGGATCCCAATAACCTTATCACCAGTACA TACTGTACTTACTAAGGTACATACCATACAGATGCTCTTCCACTTATGAT GGGATCCCAATAACCTTATCA	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	25/25			chr20	TogoVar
KIF16B_chr20_16267104_16578448	16288498	G G	GTGATAAG others(388): Show GTGATAAGGTTATTGGGATCCCATCATAAGTGGAAGAGCATCTGTATGGT ATGTACCTTAGTAAGTACAGTATGTACTGGTGATAAGGTTATTGGGATCC CATCATAAGTGGAAGAGCATCTGTATGGTATGTACCTTAGTAAACACAGT ATGTACTGATGATAAGGTTATTGGGATCCCATCATAAGTGGAACAGCATC TGTATGGTATGTACCTTAGTAAACACAGTATGTACTGGTGATAAGGTTAT TGGGATCCCATCATAAGTGGAAGAGCATCTGTATGGTATGTACCTTAGTA AACACAGTATGTACTGATGATAAGGTTATTGGGATCCCATCATAAGTGGA AGAGCATCTGTATGGTATGTACCTTAGTAAACACAGTATGTACTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00558.hp2 others(47): Show HG00099.hp2 HG00323.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01106.hp1 HG01257.hp1 HG01516.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp2 HG02273.hp2 HG02976.hp2 HG03098.hp1 HG03486.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 NA18906.hp2 NA18941.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18973.hp1 NA18974.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA19011.hp2 NA19056.hp2 NA19064.hp2 NA19077.hp1 NA19082.hp1 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0011	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0014 a0001c0017 a0002c0003 a0003c0004 a0004c0007 a0004c0021 a0011c0022	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0002t0001 a0001c0002t0023 a0001c0005t0006 a0001c0014t0001 a0001c0017t0001 a0002c0003t0006 a0003c0004t0001 a0003c0004t0004 a0004c0007t0001 a0004c0021t0005 a0011c0022t0001	a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0062 others(47): Show a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0001t0001g0107 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0232 a0001c0001t0004g0234 a0001c0001t0004g0245 a0001c0001t0019g0135 a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0070 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0114 a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0164 a0001c0002t0023g0250 a0001c0005t0006g0128 a0001c0014t0001g0119 a0001c0017t0001g0087 a0002c0003t0006g0184 a0003c0004t0001g0060 a0003c0004t0001g0077 a0003c0004t0004g0246 a0004c0007t0001g0080 a0004c0021t0005g0226 a0011c0022t0001g0134	50	216	0.2315	395	c.379 others(416): Show c.3796-15088_3796-15087insTCAGTACATACTGTGTTTACTAAG GTACATACCATACAGATGCTCTTCCACTTATGATGGGATCCCAATAACCT TATCATCAGTACATACTGTGTTTACTAAGGTACATACCATACAGATGCTC TTCCACTTATGATGGGATCCCAATAACCTTATCACCAGTACATACTGTGT TTACTAAGGTACATACCATACAGATGCTGTTCCACTTATGATGGGATCCC AATAACCTTATCATCAGTACATACTGTGTTTACTAAGGTACATACCATAC AGATGCTCTTCCACTTATGATGGGATCCCAATAACCTTATCACCAGTACA TACTGTACTTACTAAGGTACATACCATACAGATGCTCTTCCACTTATGAT GGGATCCCAATAACCTTATCA	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	25/25			chr20	TogoVar
KIF16B_chr20_16267104_16578448	16288498	G G	GTGATAAG others(388): Show GTGATAAGGTTATTGGGATCCCATCATAAGTGGAAGAGCATCTGTATGGT ATGTACCTTAGTAAGTACAGTATGTACTGGTGATAAGGTTATTGGGATCC CATCATAAGTGGAAGAGCATCTGTATGGTATGTACCTTAGTAAACACAGT ATGTACTGATGATAAGGTTATTGGGATCCCATCATAAGTGGAACAGCATC TGTATGGTATGTACCTTAGTAAACACAGTATGTACTGGTGATAAGGTTAT TGGGATCCCATCATAAGTGGAAGAGTATCTGTATGGTATGTACCTTAGTA AACACAGTATGTACTGATGATAAGGTTATTGGGATCCCATCATAAGTGGA AGAGCATCTGTATGGTATGTACCTTAGTAAACACAGTATGTACTGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01169.hp1 HG01175.hp2 others(22): Show HG00140.hp2 HG01169.hp1 HG01175.hp2 HG01346.hp1 HG01361.hp1 HG01516.hp1 HG02015.hp2 HG02055.hp1 HG02074.hp1 HG02486.hp1 HG02615.hp2 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03486.hp1 HG03654.hp2 NA18522.hp2 NA18941.hp2 NA18953.hp1 NA18964.hp1 NA18984.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0008 others(2): Show a0001c0001 a0001c0005 a0001c0008 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0001c0008t0001 a0002c0003t0001 a0002c0003t0004 a0003c0004t0001 a0003c0004t0004	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0055 others(22): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0174 a0001c0001t0001g0187 a0001c0001t0004g0219 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0249 a0001c0005t0001g0158 a0001c0008t0001g0008 a0001c0008t0001g0024 a0001c0008t0001g0160 a0001c0008t0001g0185 a0002c0003t0001g0015 a0002c0003t0004g0209 a0003c0004t0001g0013 a0003c0004t0001g0030 a0003c0004t0001g0053 a0003c0004t0001g0057 a0003c0004t0001g0083 a0003c0004t0001g0089 a0003c0004t0001g0183 a0003c0004t0004g0233	25	191	0.1309	395	c.379 others(416): Show c.3796-15088_3796-15087insTCAGTACATACTGTGTTTACTAAG GTACATACCATACAGATGCTCTTCCACTTATGATGGGATCCCAATAACCT TATCATCAGTACATACTGTGTTTACTAAGGTACATACCATACAGATACTC TTCCACTTATGATGGGATCCCAATAACCTTATCACCAGTACATACTGTGT TTACTAAGGTACATACCATACAGATGCTGTTCCACTTATGATGGGATCCC AATAACCTTATCATCAGTACATACTGTGTTTACTAAGGTACATACCATAC AGATGCTCTTCCACTTATGATGGGATCCCAATAACCTTATCACCAGTACA TACTGTACTTACTAAGGTACATACCATACAGATGCTCTTCCACTTATGAT GGGATCCCAATAACCTTATCA	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	25/25			chr20	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(388): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAGGAGG GAAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCA GGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGG GAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAG GGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGG CAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0009 a0009	a0009c0070 a0009c0070	a0009c0070t0001 a0009c0070t0001	a0009c0070t0001g0051 a0009c0070t0001g0051	1	8	0.1250	395	c.507 others(414): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA AGAAGGGAGGAAGGGAAGGAGGGAAGGTGGAAGGAAGGAAGGAAAAGAAG GAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAG AAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGA AAGAAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAG GGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGA AGAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(388): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACC ACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTCTC CTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTC ACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACAC CACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCT CCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCC CACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0285 a0001c0003t0017g0285	1	166	0.0060	395	c.66 others(406): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCC CTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACA GCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCA CACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATC CCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACAC AGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCC TCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACAC CCCTCTCCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LAMC1_chr1_183018420_183150592	183149512	C C	CACACACC others(388): Show CACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACA TCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCA CAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCC TCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCAC ACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCAC ACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACACCCCT CTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGC TCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0290 a0001c0003t0003g0290	1	293	0.0034	395	c.67 others(406): Show c.6722_*6723insACACACCACACAGCTCACACCCCTCTCCTCACAC ACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCT CTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAG CTCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACA CACCACACAGCTCACACCCCTGTCCTCCTCACACACCACACAGCCCACAC CCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCAC ACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCT CACACACCACACAGCTCACACCCCTGTCCTCCTCACACACCACACAGCCC ACACCCCTCCT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3921		chr1	TogoVar
LHPP_chr10_124456823_124619141	124506684	A A	AGATTTCA others(388): Show AGATTTCAAGTGGGGTGGGTAAGGAGGATTTCAGGTCGGGGGGTAGACAG GATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTCGGGGGGTAGACAGG ATTTCAGGTGAGGCGGGTAGGGAGGATTTCAGGTGCAGGGGTAGACAGGA TTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGA TTTCAGGTGAGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGTATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATT TCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGACAG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	185	0.0054	395	c.624 others(412): Show c.624+8563_624+8564insAGTGGGGTGGGTAAGGAGGATTTCAGGT CGGGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTC GGGGGGTAGACAGGATTTCAGGTGAGGCGGGTAGGGAGGATTTCAGGTGC AGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAG GGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGACAGGATTTCAGGTGGG GGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGG GGGTAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGAGGG GGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGG GGGTAGACAGGATTTCA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LOC102725191_chr7_12499441_12546270	12527001	C C	CTGAAATG others(388): Show CTGAAATGGAACATGTCTACTTTCCTAGTATATGCTATGTGTCACTCACT TTGGTAGAAAATGCCATCTAGCTGTGTAATTGAAATGGAACATGTCTACT TTCCTAGTATATGCTATGTGTCACTCACTTTGGTAGAAAATGCCATCTAG CTGTGTAATTGAAATGGAACATGTCTACTTTCCTAGTATATGCTAAGTGT CACTCACTTTGGTAGAAAATGCCATCTAGCTGTGTAATTGAAATGGAACA TGTCAGCTTTCCTAGTATATGCTATGTGTCACTCACTTTGGTAGAAAATG CCACCTAGCTGTGTAATTGAAATGGAACATGTCAGCTTTCCTAGTATATG CTATGTGTCACTCACTATGGTAGAAAATGCCACCTAGCTGTGTAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02965.hp2 others(2): Show HG01884.hp1 HG02280.hp1 HG02965.hp2 HG03516.hp2 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0326 a0003c0003t0002g0322 a0003c0003t0002g0323 others(2): Show a0003c0003t0001g0326 a0003c0003t0002g0322 a0003c0003t0002g0323 a0003c0003t0002g0325 a0003c0003t0002g0327	5	203	0.0246	395	c.544 others(412): Show c.544+1113_544+1114insTACTTTCCTAGTATATGCTATGTGTCAC TCACTTTGGTAGAAAATGCCATCTAGCTGTGTAATTGAAATGGAACATGT CTACTTTCCTAGTATATGCTATGTGTCACTCACTTTGGTAGAAAATGCCA TCTAGCTGTGTAATTGAAATGGAACATGTCTACTTTCCTAGTATATGCTA AGTGTCACTCACTTTGGTAGAAAATGCCATCTAGCTGTGTAATTGAAATG GAACATGTCAGCTTTCCTAGTATATGCTATGTGTCACTCACTTTGGTAGA AAATGCCACCTAGCTGTGTAATTGAAATGGAACATGTCAGCTTTCCTAGT ATATGCTATGTGTCACTCACTATGGTAGAAAATGCCACCTAGCTGTGTAA TTGAAATGGAACATGTC	LOC102725191	ENSG00000226690.9	transcript	ENST00000636804.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRMDA_chr10_75426624_76565168	75672584	C C	CCCTTCCC others(388): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0008 a0001c0001t0010g0008	1	46	0.0217	395	c.131 others(416): Show c.131+234093_131+234094insTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTTCCT	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAEA_chr4_1284891_1345137	1316970	A A	ACGGCCCC others(388): Show ACGGCCCCACACTCCAGACTCACCTGCAGGCCCACCACGGCCCCACACTC TAGACTCACCCCCAGGCCCACCCGGCCCCACACTCCAGACTCACCTGCAG GCCCACCACGGCCCCACACTCTAGACTCACCCCCAGGCCCACCCCGGCCC CCACACTCCAGACTCACCTGCAGGCCCACCCGGCCCCACACTCTAGACTC ACCCCCAGGCCCACCCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCA CCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACAC TCCAGACTCACCCCCAGGCCCACCCGGCCCCACACTCTAGACTCACCCCC AGGCCCACCCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCACC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03130.hp1 HG01884.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0011 a0001c0002t0001 a0001c0002t0011	a0001c0002t0001g0079 a0001c0002t0011g0078 a0001c0002t0001g0079 a0001c0002t0011g0078	2	213	0.0094	395	c.456 others(412): Show c.456+1383_456+1384insCAGACTCACCTGCAGGCCCACCACGGCC CCACACTCTAGACTCACCCCCAGGCCCACCCGGCCCCACACTCCAGACTC ACCTGCAGGCCCACCACGGCCCCACACTCTAGACTCACCCCCAGGCCCAC CCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGCCCCACACT CTAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCAGACTCACCTG CAGGCCCACCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGC CCCCACACTCCAGACTCACCCCCAGGCCCACCCGGCCCCACACTCTAGAC TCACCCCCAGGCCCACCCCGGCCCCCACACTCCAGACTCACCTGCAGGCC CACCCGGCCCCACACTC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MALRD1_chr10_19043801_19739478	19238068	T T	TAATTATC others(388): Show TAATTATCTGTAATTTTATATAGTTATATATAATTATCTGTAATTTTATA TAGTTATATATAATTATATGTAATTTTATATGGTTATATATAATTATACG TAGTTTTACATAGTTATATAGTTATAACTATATGTAGTTATATATAATTA TATATAATTATATATAATTTATATACTTATAAATATGTAATTATATATGT TATAATTATAAATATATATAATATAAATATACAATACATTTTATATAATA TATAATATATAGTATAATACAAAATATACATTATAATATATTATATAAAA ATATTATAATATATAATAATATATATTATATTATATATAATATATATAAT ATAATATATATTATATATAGTATAATATATATATTATAATTTATAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0001 a0013c0011t0001	a0013c0011t0001g0118 a0013c0011t0001g0118	1	121	0.0083	395	c.299 others(416): Show c.2992-19616_2992-19615insAATTATCTGTAATTTTATATAGTT ATATATAATTATCTGTAATTTTATATAGTTATATATAATTATATGTAATT TTATATGGTTATATATAATTATACGTAGTTTTACATAGTTATATAGTTAT AACTATATGTAGTTATATATAATTATATATAATTATATATAATTTATATA CTTATAAATATGTAATTATATATGTTATAATTATAAATATATATAATATA AATATACAATACATTTTATATAATATATAATATATAGTATAATACAAAAT ATACATTATAATATATTATATAAAAATATTATAATATATAATAATATATA TTATATTATATATAATATATATAATATAATATATATTATATATAGTATAA TATATATATTATAATTTATAC	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39			chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579126	C C	CCACCACC others(388): Show CCACCACCACCATCACCACCACCACCCTTCACCACCACCACCACCACCAC CACCATCACCACCACCACCCTTCACCACCATCACCACCACCACCATCACC ACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0262 a0018c0023t0001g0262	1	297	0.0034	395	c.391 others(410): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCACCACC ACCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCA CCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACCAC CACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCA CCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MLIP_chr6_54106443_54271280	54251554	G G	GTATATAT others(388): Show GTATATATTTATATATATAATATATATTATATAATATATAATATATATTA TATAATATAAAATATATATTATATTATATTATATTATGTATTATATAATA TAATATATAATATTATATATTATAATATATATTATAATATATAATATATA ATATTATATATTATAATATATATTATATTATATAATATTATATATTATAT TATATAATATATAATATAATATAATATATTATATTATATAATATTATATA ATATATAATATTATATATTATATTATATATTATATATTATATTATATAAT ATATAATATTATATATATTATAACATAATATATAATATAAATATATATTA TAGCATATAATATATAATACAAATATATATTATAGCATATAATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0116 a0002c0003t0002g0116	1	145	0.0069	395	c.292 others(414): Show c.2923-5752_2923-5751insTATATTTATATATATAATATATATTA TATAATATATAATATATATTATATAATATAAAATATATATTATATTATAT TATATTATGTATTATATAATATAATATATAATATTATATATTATAATATA TATTATAATATATAATATATAATATTATATATTATAATATATATTATATT ATATAATATTATATATTATATTATATAATATATAATATAATATAATATAT TATATTATATAATATTATATAATATATAATATTATATATTATATTATATA TTATATATTATATTATATAATATATAATATTATATATATTATAACATAAT ATATAATATAAATATATATTATAGCATATAATATATAATACAAATATATA TTATAGCATATAATATATA	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(388): Show TTGTATATATTATATATAATATATACAATATTGTATATATTATATATAAT ATATACAATATTGTATATATTATATATAATATATACAATATTGTATATAT TATATATAATATATACAATATTGTATATAATATATATAATATATACAATA TTTATATATATTATATATATTATATATAATATATACATATTATATATTAT ATATTATATATATACATATTATATATTATATATATAATATATATACATAT TATATTATATATAATATATATACATATTATATTATATATAATATATATAC ATATTATATTATATATAATATATATACATATTATATTATATATAATATAT ATACATATTATATATATAATATATAATATATTACATATTATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0164 a0003c0005t0001g0164	1	38	0.0263	395	c.262 others(414): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTGTATATATTATATATAATATATACAATATTGTATATATTATATAT AATATATACAATATTGTATATATTATATATAATATATACAATATTGTATA TAATATATATAATATATACAATATTTATATATATTATATATATTATATAT AATATATACATATTATATATTATATATTATATATATACATATTATATATT ATATATATAATATATATACATATTATATTATATATAATATATATACATAT TATATTATATATAATATATATACATATTATATTATATATAATATATATAC ATATTATATTATATATAATATATATACATATTATATATATAATATATAAT ATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MYDGF_chr19_4652545_4675342	4663164	G G	GTCCTCAT others(388): Show GTCCTCATTCTACACAGCCTCCAATCTACCCTCCCCATCCACCCCGTCCT CATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTA CAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTC CAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTA CCCTCCCCACCCGTCCTGTCCTCATTCTACACAGCCTCCAATCTACCCTC CCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCC GTCCTGTCCACATTCTACACAGTCTCCAATCTACCCTCCCCACCCACCCC ATCCTCATTCTACAGCCTCCAATCTGTGCCCTCTCCACCCATCCCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0091 a0002c0002t0002g0091	1	406	0.0025	395	c.287 others(412): Show c.287+1711_287+1712insTGGGATGGGTGGAGAGGGCACAGATTGG AGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGACTGT GTAGAATGTGGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTAGAAT GAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGA CAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTG GGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGG AGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAG ATTGGAGGCTGTAGAATGAGGACGGGGTGGATGGGGAGGGTAGATTGGAG GCTGTGTAGAATGAGGA	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
NCR1_chr19_54901148_54918073	54916702	A A	ATTTTTTT others(388): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGAAGTCCTGCTCTGTCA CCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCTGCAACCTCCGCCTCC CGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA AGTGCGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGG GTTTCTCCATGTTGGTCTCAAACTCCTGGTCTCAGGTGATCCACCCGCCT TGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACACCCAGCTA CTTGTGCTTTTTGACCAACATCTTCCTCTCCTACCACCCCCAGCCCCTGA TAACCTCCACCTACTCTCACTTCTAGGAGATCAACTGTTCTATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0003 a0001c0003t0005g0003	1	225	0.0044	395	c.38 others(406): Show c.3831_*3832insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGA AGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCT GCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAAGTGCGTGCCACCACGCCCGGCTAATTTTTGTATT TTTAGTAGAGATGGGGTTTCTCCATGTTGGTCTCAAACTCCTGGTCTCAG GTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGC CACCACACCCAGCTACTTGTGCTTTTTGACCAACATCTTCCTCTCCTACC ACCCCCAGCCCCTGATAACCTCCACCTACTCTCACTTCTAGGAGATCAAC TGTTCTATTTT	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		3630		chr19	TogoVar
NELFB_chr9_137250327_137278542	137273768	A A	AATAATTT others(388): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGAGGTTGATGTAATT TCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATAAAATTTCTGGG GGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGT TGATATAATTTCTGGGGGAGGATGATATAATAATTTCTGGGGGAAGTTGA TATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAAT TTCTGGGGGAGGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGG AGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTG ATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	6	0.1667	395	c.84 others(404): Show c.840_*841insATAATTTCTGGGGGAGGATGATATAATTTCTGGGGA GGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGA TAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATATAATAATTTC TGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGGG AGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGGAGGTTGATA TAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTT CTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGG GAGGTTGAT	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding		227		chr9	TogoVar
NELFB_chr9_137250327_137278542	137273768	A A	AATAATTT others(388): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATAAAATTTCTGG GGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGG TTGATATAATTTCTGGGGGAGGATGATATAATAATTTCTGGGGGAAGTTG ATATAATTTCTGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAAT TTCTGGGGGAGGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGG AGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTG ATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	6	0.1667	395	c.84 others(404): Show c.840_*841insATAATTTCTGGGGGAGGATGATATAATTTCTGGGGG AGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTG ATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATATAATAATTT CTGGGGGAAGTTGATATAATTTCTGGGGAGGTTGATGTAATTTCTGGGGG AGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGGAGGTTGATA TAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTT CTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGG GAGGTTGAT	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding		227		chr9	TogoVar
NELFB_chr9_137250327_137278542	137273768	A A	AATAATTT others(388): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATAAAATTTCTGG GGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGG TTGATATAATTTCTGGGGGAGGATGATATAATAATTTCTGGGGGAAGTTG ATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAA TTTCTGGGGGAGGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGG GAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTT GATATAATTTCTGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	6	0.1667	395	c.84 others(404): Show c.840_*841insATAATTTCTGGGGGAGGATGATATAATTTCTGGGGG AGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTG ATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATATAATAATTT CTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGG GAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGGAGGTTGAT ATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATT TCTGGGGGAGGTTGATATAATTTCTGGGGAGGTTGATGTAATTTCTGGGG GAGGTTGAT	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding		227		chr9	TogoVar
NEU4_chr2_241804193_241822413	241805963	T T	TCCGCAGG others(388): Show TCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCTCCCTCCCTCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAACCCAGGGACCTCCGCAGGCCTCCCTCCCTCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCTCCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	247	0.0040	395	c.-33 others(406): Show c.-3315_-3314insCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGC CTCCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCA GGGACCTCTGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCTCCCTC CCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCTCCCTCCCTCCCCCTCAGCCCAGGGACCT CTGCAGGCCAC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3229		chr2	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(388): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGG AGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	157	0.0064	395	c.91+ others(408): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTTGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGG GGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(388): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCC TCCCACCCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCC TCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCC CCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTT CCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCC CTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18747.hp2 HG02145.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0085 a0001c0001t0002 a0001c0001t0085	a0001c0001t0002g0193 a0001c0001t0085g0161 a0001c0001t0002g0193 a0001c0001t0085g0161	2	207	0.0097	395	c.433 others(412): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGG AAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGG GAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OCA2_chr15_27749875_28104315	27930644	A A	AGCTTGCC others(388): Show AGCTTGCCAACTCTTTTTTTTTTTTTTTTAATGTTTTTTTTTTTTTAATT ATACTTTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATA TGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAG CATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACC ACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGATCTCATT GTTCAATTCCCACCTATGAGTGAGAATATGCAGTGTTTGGTTTTTTGTTC TTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTA CAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0007 a0003c0013t0001g0007	1	88	0.0114	395	c.195 others(414): Show c.1952-4391_1952-4390insATGGAATACTATGCAGCCATAAAAAA TGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCA TTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACTGCATATTCTCA CTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAA CATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGC ATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCAC CAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATG TACCCTAAAACTTAAAGTATAATTAAAAAAAAAAAAACATTAAAAAAAAA AAAAAAAGAGTTGGCAAGC	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	18/23			chr15	TogoVar
OSGIN1_chr16_83948240_83971332	83951892	C C	CCTCCCTC others(388): Show CCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTC CCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCT CCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCATCCCTTCC TCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTC CCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTC CCTACTTCCCTCCCTCCCTGCCTCCCTCCCTCCTTCCTTCCCTCCCTCCC TGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCTTCCCTCCCTC CCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03139.hp2 others(2): Show HG02896.hp1 HG02897.hp1 HG03139.hp2 HG03195.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0003 a0001c0007t0003 a0001c0003t0003 a0001c0007t0003	a0001c0003t0003g0007 a0001c0003t0003g0168 a0001c0007t0003g0007 a0001c0003t0003g0007 a0001c0003t0003g0168 a0001c0007t0003g0007	5	291	0.0172	395	c.-15 others(406): Show c.-1511_-1510insCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCT CCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCCT CCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTT CCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTC CACCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCC CTTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCCTCCTT CCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCC TTCCTTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCT GCCTCCCTCCT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1347		chr16	TogoVar
OTOF_chr2_26452203_26483124	26476536	C C	CCCTTCCC others(388): Show CCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTT CCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCC CCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCC CACCCCTTCCCCCACGTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCA CCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACC CCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCC TTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02818.hp2 HG03139.hp1 HG02486.hp1 HG02818.hp2 HG03139.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0022 a0001c0014t0003g0074 a0001c0014t0003g0022 a0001c0014t0003g0074	3	316	0.0095	395	c.436 others(410): Show c.436-220_436-219insCGTGGGGGAAGGGGTGGGGAAGGAGGTGGG GGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGG AAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAG GAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGA CGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGG TGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTG GGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGG GAAGGAGGTGGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGAGGTGGGGGA AGGGGTGGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476536	C C	CCCTTCCC others(388): Show CCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTT CCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCC CCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCC CACCCCTTCCCCCACGTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCA CCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACC CCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCC TTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02818.hp2 HG03139.hp1 HG02486.hp1 HG02818.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0054 a0002c0044 a0002c0070 a0001c0054 a0002c0044 a0002c0070	a0001c0054t0008 a0002c0044t0002 a0002c0070t0002 a0001c0054t0008 a0002c0044t0002 a0002c0070t0002	a0001c0054t0008g0271 a0002c0044t0002g0028 a0002c0070t0002g0190 a0001c0054t0008g0271 a0002c0044t0002g0028 a0002c0070t0002g0190	3	271	0.0111	395	c.267 others(412): Show c.2677-220_2677-219insCGTGGGGGAAGGGGTGGGGAAGGAGGTG GGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGG GGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGA AGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAG GACGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGG GGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGG TGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTG GGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGAGGTGGGG GAAGGGGTGGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
P2RX5_chr17_3668227_3701155	3685780	C C	CCCCCCCG others(388): Show CCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGG ACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTG GGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAA CAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCC CCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACC CTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACA GCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC AGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0125 a0002c0002t0001g0125	1	358	0.0028	395	c.981 others(412): Show c.981+2231_981+2232insACGTTGGGAGGGTCCCTGGGGGCCCAGC TGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAG GGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGG GGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCTG TTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCC CAGCTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTG GGAGGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCTCAGGCTGGGA GGGGGACGTTGGGAGGGTCCCTGGGGGTCCCGCTGTGCGTTCTCCTGTTC TGAGGCTGGGCGGGGGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(388): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT AATACATATATAACATATATGTATTACATATATGTAATACATATATAACA TATATGTATTACATATATGTAATACATATATAACATGTATTACATATATG TAATACACATATAACATGTATTACATATATGTAATACACATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA19091.hp2 NA18963.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0003 a0001c0001t0001g0001 a0001c0001t0005g0003	2	123	0.0163	395	c.70 others(406): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTAATACATATATAACATATATGTATTACATATATGT AATACATATATAACATATATGTATTACATATATGTAATACATATATAACA TGTATTACATATATGTAATACACATATAACATGTATTACATATATGTAAT ACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(388): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG03139.hp2 HG02622.hp2 HG02809.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0003t0004 a0001c0001t0003 a0001c0001t0004 a0001c0003t0004	a0001c0001t0003g0238 a0001c0001t0004g0181 a0001c0003t0004g0239 a0001c0001t0003g0238 a0001c0001t0004g0181 a0001c0003t0004g0239	3	52	0.0577	395	c.129 others(412): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PGAM5_chr12_132705842_132727734	132718575	G G	GGTCCTGG others(388): Show GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC TGGGTGGGGTGCGTGCTGGGTGGGGGGTGTCCTGGGTGGGGGGTCCTGAG TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG GGGGTCCTGGGTGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTC CTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG TGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGC ATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0063 a0001c0002t0029g0063	1	135	0.0074	395	c.719 others(410): Show c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGT CCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGTCCTGGG TGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGAGTGGGGT GCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGT CCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCT GGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTG GGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GTGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132718575	G G	GGTCCTGG others(388): Show GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGT GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG GGGTCCTGGGTGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCC TGGGTGGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG TGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGC ATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0218 a0001c0002t0004g0218	1	135	0.0074	395	c.719 others(410): Show c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC CTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGTCCTGGGT GGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGAGTGGGGT GCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGT CCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCT GGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTG GGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GTGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132718575	G G	GGTCCTGG others(388): Show GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGT GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG GGGTCCTGGGTGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCC TGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGT GGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGC ATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	135	0.0074	395	c.719 others(410): Show c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC CTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGTCCTGGGT GGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGAGTGGGGTG CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTC CTGGGTGGGGTGCGTGCTGGGTGGGGGGTGTCCTGGGTGGGGTGCGTGCT GGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTG GGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GTGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PHACTR3_chr20_59599540_59852711	59821980	G G	GATCCCAC others(388): Show GATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCC CTTCCCCAGCAATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGC GATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCC CTTCCCCAGCGATCCGCCCCCCAACGATCCCACCCCTTCTCCAGCGATCC CACCCCCTCCGCAGCGATCCCACCCCCTCCGCAGCGATCCCACCCCTTCC GCAGCGATCCCACCCCCTCCGCAGCGATCCCACCCCCTCCGCAGCGATCC CACCCCTTCCGCAGCGATCCCACCCCCTCCGCAGCCATCCCACCCCCTCC CCAGCAATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	1	115	0.0087	395	c.132 others(416): Show c.1329-14486_1329-14485insAATCCCACCCCTTCCCCAGCAATC CCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTC CCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATC CGCCCCCCAACGATCCCACCCCTTCTCCAGCGATCCCACCCCCTCCGCAG CGATCCCACCCCCTCCGCAGCGATCCCACCCCTTCCGCAGCGATCCCACC CCCTCCGCAGCGATCCCACCCCCTCCGCAGCGATCCCACCCCTTCCGCAG CGATCCCACCCCCTCCGCAGCCATCCCACCCCCTCCCCAGCAATCCCACC CCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAG CAATCCCACCCCTTCCCCAGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PIGZ_chr3_196941356_196973833	196948888	C C	CCCTTCCT others(388): Show CCCTTCCTTCCCTTCCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCCTCCC CTCCCTTCCCTTCCTTCCCTTCCCCTCCCCTCCCTTCCCTTCCTTCCCTT CCTTCCTTCCCTTCCTTCCCTTCCTTCCCTCCCTTCCCTTCCTTCCCTTC CTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCC TTCCCTTCCCCTCCCCTCCCTTCCCTTCCTTCCCTTCCTTCCTTCCCTTC CTTCCCTTCCTTCCCTTCCTTCCCTTTACTTCTCTTCCCCTCCCCTCCCT TCCCTTCCTTTCCTTTACTTCCCTTCCTTCCCCTCCCCTCCCTTCCTTCC CTTCCTTCCCTTCCCCTCCCCTCCCTTCCTTCCCTTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0099 a0002c0005t0001g0099	1	389	0.0026	395	c.212 others(410): Show c.212-204_212-203insAGGGGAGGGGAAGGGAAGGAAGGGAGGGGA GGGGAAGGGAAGGAAGGGAAGGAAGGGAGGGGAGGGGAAGGAAGGGAAGT AAAGGAAAGGAAGGGAAGGGAGGGGAGGGGAAGAGAAGTAAAGGGAAGGA AGGGAAGGAAGGGAAGGAAGGGAAGGAAGGAAGGGAAGGAAGGGAAGGGA GGGGAGGGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGG AAGGAAGGGAAGGAAGGAAGGGAAGGAAGGGAAGGGAGGGAAGGAAGGGA AGGAAGGGAAGGAAGGAAGGGAAGGAAGGGAAGGGAGGGGAGGGGAAGGG AAGGAAGGGAAGGGAGGGGAGGGGAAGGGAAGGAAGGGAGGGAGGGGAGG GGAAGGGAAGGAAGG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	2/2			chr3	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(388): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTGTTTTTTTTTTGTT TTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGAGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	78	0.0128	395	c.550 others(412): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAACAAAAAAAAACAAAAAAAAAACAAAAAAAAACAAAAAAAA ACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(388): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(115): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03239.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18939.hp2 NA18945.hp1 NA18962.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18993.hp2 NA18997.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0172 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0018 a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0116 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0004t0001g0032 a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0013 a0002c0002t0001g0033 a0002c0002t0001g0044 a0002c0002t0001g0093 a0002c0002t0001g0113 a0002c0002t0001g0121 a0002c0002t0001g0174	118	230	0.5130	395	c.-27 others(404): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCGCCCCTAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCT CCCCTGCCCGCCGCTGCCGTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCT CCTCCCCTTCCCCTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCT GCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTC CCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCCTCCCC TGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGC CGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(388): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTGGGGCGG GGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGG GGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	113	0.0088	395	c.-27 others(404): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCT CCTCCCCTCCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCT CCTCCCCTCCCCGCCCCAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCT CCCCTGCCCGCCGCTGCCGTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCT CCTCCCCTTCCCCTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCT GCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTC CCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCCTCCCC TGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGC CGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(388): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTGGGGCG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	113	0.0088	395	c.-27 others(404): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCGCCCCAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTC CCCCTGCCCGCCGCTGCCGTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCT CCTCCCCTTCCCCTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCT GCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTC CCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCCTCCCC TGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGC CGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(388): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATATATTTATATATAATATAATATATAT TATATATAATATATATTATATATAATATAATATATATTATATATAATATA TATTTATATATAATATAATATATATTATATATAATATATATTATATATAA TATAATATATATTATATATAATATATATTTATATATAATATAATATATAT TATATATAATATATATTATATATAATATAATATATATTATATATAAAAAT ATATTTATATATATTATATTATATATAATATATTATATATATTATATTAT ATATAATATATTATATATATTATATATATATAATATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	31	0.0323	395	c.-50 others(406): Show c.-5036_-5035insTATAATATATATATTATATATATATAATATATAT AATATATTATATATAATATAATATATATAATATATTATATATAATATAAT ATATATAAATATATTTTTATATATAATATATATTATATTATATATAATAT ATATTATATATAATATATATTATATTATATATAAATATATATTATATATA ATATATATTATATTATATATAATATATATTATATATAATATATATTATAT TATATATAAATATATATTATATATAATATATATTATATTATATATAATAT ATATTATATATAATATATATTATATTATATATAAATATATATTATATATA ATATATATTATATTATATATAATATATTTTTATATAAATATATATTATAT ATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(388): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGCTCTGTCA CCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCT CCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTAGCTTGTATTAT AGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAGTGATC CGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAGCCACCGT GCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATATTAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	20	0.0500	395	c.479 others(414): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTAAA GATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCG GCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCC TCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTC AAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGA TTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTATATTCTG AATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(388): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGCTCTGTCA CCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCT CCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTAGCTTGTATTAT AGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAGTGATC CGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAGCCACCGT GCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATATTAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	1	20	0.0500	395	c.479 others(414): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTAAA GATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCG GCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCC TCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTC AAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGA TTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTATATTCTG AATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(388): Show AACAGCATATCATATATATATATATATATATATATATATATATATATTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGCTCTGTCA CCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCT CCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTAGCTTGTATTAT AGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAGTGATC CGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAGCCACCGT GCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATATTAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	20	0.0500	395	c.479 others(414): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAA GATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCG GCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCC TCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTC AAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGA TTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTATATTCTG AATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132392570	A A	ATGGTGAT others(388): Show ATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGT GGTGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGAT GGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGG TGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTG ATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGT GGTGGTAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGG TGATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0086 a0008c0016t0001g0086	1	328	0.0030	395	c.-46 others(406): Show c.-4657_-4656insTGGTGATGGTGATGATGGTGGTGGTGGTGATAAT GGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGAT AATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGG TGATGGTGATGATGGTGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTG ATAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGT AGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGG TGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAATGATGG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4629		chr10	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAGA others(388): Show AGGGGAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGG GGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAG GGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGG AGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAG GAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAG GGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	30	0.0333	395	c.36 others(406): Show c.3638_*3639insGGGGAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAG GGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAG GAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAG GGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGG GAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGA GGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGG GGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGG AGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RPH3AL_chr17_207389_357807	242693	T T	TTACCTTC others(388): Show TTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTG ATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTA TTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTC TATTGATTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCT CTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCC TCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTC CTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTT CCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0068 a0001c0003t0001g0068	1	89	0.0112	395	c.613 others(412): Show c.613+4417_613+4418insGTCAATAGAGGAAGGGTAATCAATAGAG GAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGA GGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAG AGGAAGGTAGTCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATA GAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAATCAAT AGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCA ATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAAT CAATAGAGGAAGGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTA GTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340698	G G	GCCCAGGC others(388): Show GCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCC ACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCAC TGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACATCCAATCTCACTGCCCCGACCCAGGCCTCCCCACATCCA CACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGTCCCC CACCCAGGCTTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCC CACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCA CTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02895.hp2 NA19074.hp1 HG01070.hp1 HG02895.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0008 a0001c0003t0030 a0001c0004t0001 a0001c0001t0008 a0001c0003t0030 a0001c0004t0001	a0001c0001t0008g0130 a0001c0003t0030g0122 a0001c0004t0001g0086 a0001c0001t0008g0130 a0001c0003t0030g0122 a0001c0004t0001g0086	3	25	0.1200	395	c.-21 others(414): Show c.-212-6765_-212-6764insTGGGGGGCAGTGAGTGTGGATGTGGG GAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCG GGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTG GATGTGGGGAAGCCTGGGTGGGGGACAGTGAGTGTGGATGTGGGGAGGCC TGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTCGGGGCAGT GAGATTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGG GGAGGCCTGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGAGG GGGGCAGTGAGTGTGGACGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGT GGATGTGGGGAGGCCTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340698	G G	GCCCAGGC others(388): Show GCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCC ACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCAC TGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACATCCAATCTCATTGCCCCGACCCAGGCCTCCCCACATCCA CACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGTCCCC CACCCAGGCTTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCC CACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCA CTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0003 a0001c0001t0011g0003	1	23	0.0435	395	c.-21 others(414): Show c.-212-6765_-212-6764insTGGGGGGCAGTGAGTGTGGATGTGGG GAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCG GGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTG GATGTGGGGAAGCCTGGGTGGGGGACAGTGAGTGTGGATGTGGGGAGGCC TGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTCGGGGCAAT GAGATTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGG GGAGGCCTGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGAGG GGGGCAGTGAGTGTGGACGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGT GGATGTGGGGAGGCCTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar

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