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
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(642): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATAT ATAAATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATAT ATATAAATATATATATGTTTTGTAAATATATAAATATATATTTTGTAAAT ATATATATATTTTGTAAATATATATATATTTTGTAAATATATATATATTT TGTAAATATATATATATTTTGTAAATATATATTGTAAATATATATAAATA TATATTTTGTGAATTATATATATATTGTAAATTATATATATATTTTGTAA ATATATATAGTAAATATATATATTTTGTAAATATGTATATATATTTTGTA AATATATATATTTTGTAAATATGTATATATATTTTGTAAATATATACATT TTGTAAATATATAAATATATACATTTTGTAAATATATAAAAATATATACA TTTTGTAAATATATAAAAATATATGTTGTAAATATATAAAAATATATATA TTTTGTAAATATATAAATATATATATTTTGTAAATATATATATATTTTGT AAATATATATAAATATATACATATTTTGTAAATATATAAATATATACATA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18983.hp2 NA18954.hp1 NA18983.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0008c0009 a0001c0003 a0008c0009	a0001c0003t0003 a0008c0009t0002 a0001c0003t0003 a0008c0009t0002	a0001c0003t0003g0273 a0008c0009t0002g0276 a0001c0003t0003g0273 a0008c0009t0002g0276	2	330	0.0061	649	c.197 others(668): Show c.1974+1124_1974+1125insTATGTATATATTTATATATTTACAAA ATATGTATATATTTATATATATTTACAAAATATATATATATTTACAAAAT ATATATATTTATATATTTACAAAATATATATATTTTTATATATTTACAAC ATATATTTTTATATATTTACAAAATGTATATATTTTTATATATTTACAAA ATGTATATATTTATATATTTACAAAATGTATATATTTACAAAATATATAT ACATATTTACAAAATATATATATTTACAAAATATATATACATATTTACAA AATATATATATTTACTATATATATTTACAAAATATATATATAATTTACAA TATATATATAATTCACAAAATATATATTTATATATATTTACAATATATAT TTACAAAATATATATATATTTACAAAATATATATATATTTACAAAATATA TATATATTTACAAAATATATATATATTTACAAAATATATATTTATATATT TACAAAACATATATATATTTATATATATTTACAAAACATATATATTTATA TATATTTACAAAACATATATTTATATATATTTACAAAACATATATATTTA TATATATTTACAAAACATATATATATTTATATATATTTACAAAACATATA TATATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MAD1L1_chr7_1810795_2237945	1996270	T T	TCCCCCCG others(642): Show TCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTC TACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTC CTGGGCGGGCAGGGTCCCCCCGGGTCTATACACGGCTGCTGGGCGGGCAG GGTCCCCCCGGGTCTATACACGGCTGCTGGGCGGGCAGGGTCCCCCGGGT TTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCT GCTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGC AGGGTCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCG GGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACG GCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCCTGGGCGG GCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCC CCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCGGGTCTACAC ACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCCTGGG CGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02451.hp1 others(4): Show HG02055.hp2 HG02109.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG03195.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0165 a0001c0001t0001g0257 a0001c0001t0001g0258 others(4): Show a0001c0001t0001g0165 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0003t0001g0073	7	264	0.0265	649	c.141 others(668): Show c.1416+5794_1416+5795insGACCCTGCCCGCCCAGGAGCCGTGTG TAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGG GGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGACCCTGCCCGC CCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGT GTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCG GGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGACCCTGC CCGCCCAGGAGCCGTGTGTAGACCCGGGGGGACCCTGCCCGCCCAGGAGC CGTGTGTAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACC CGGGGGGGACCCTGCCCGCCCAGCAGCCGTGTGTAGACCCGGGGGGACCC TGCCCGCCCAGGAGCCGTGTGTAAACCCGGGGGACCCTGCCCGCCCAGCA GCCGTGTATAGACCCGGGGGGACCCTGCCCGCCCAGCAGCCGTGTATAGA CCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGACC CTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGACCCTGCCCGCCCAG GAGCCGTGTGTAGACCCGGGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAPK11_chr22_50258713_50275380	50274865	C C	CTCCCAAC others(642): Show CTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAACCCCCCACCTCCC CCCAGCACCCCTCCCAGCCCCCTCCACCTCCCGCAGCACCCCTCCCAGCC CCTTCCACCTCCCCCAGCACCCCTCCCAACCCACCTCCCCCAGCACCCCT CCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCC CCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGC CCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCA GCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCC TCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAGTACCC CTCCCAGCCCCTTCCACCTCCCCCAGCACCCCTCCCAACCCCCCACCTCC CCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAG CCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAG CACCACCCCCAGCCCCCTCCACCTCCCCCAGCATCCCTCCCAGCCCCCTC CACCTTTCCCAGCACCCTTCCCAGCCCCCTCCACCTCCCCACAGCTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	428	0.0023	649	c.-45 others(660): Show c.-4574_-4573insTGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGAAG GGTGCTGGGAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAG GGGGCTGGGGGTGGTGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTG GGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCT GGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAGG TGGAAGGGGCTGGGAGGGGTACTGGGGGAGGTGGAGGGGGCTGGGAGGGG TGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGG GGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTG GGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGC TGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGG GAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAGGTGGGTTGGGAGGGGTGC TGGGGGAGGTGGAAGGGGCTGGGAGGGGTGCTGCGGGAGGTGGAGGGGGC TGGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGGA GGTGGGGGGTTGGGA	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4486		chr22	TogoVar
MGAT5B_chr17_76863404_76955393	76925239	T T	TCCCCTCC others(642): Show TCCCCTCCCCTCCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCTCCTCCT CCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCCTCCCCCCCCTCCCC TCCCCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCT CCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGC CTCCCCTTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCT TCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTC CCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCC GCCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCC TCCCCCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCT GCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCC CTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCC TCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCCACCCCTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0012 a0012	a0012c0056 a0012c0056	a0012c0056t0003 a0012c0056t0003	a0012c0056t0003g0158 a0012c0056t0003g0158	1	278	0.0036	649	c.115 others(666): Show c.1157+156_1157+157insCCCTCCCCTCCCTCCCCCTCCCCTCCCC CCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCC TCCTCCTCCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCCTCCCCCC CCTCCCCTCCCCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTC CTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCC CTCCCGCCTCCCCTTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTTCCCC TCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCC TCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCC CTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCC CCTTCCCTCCCCCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTT CCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTC CCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCA CTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC ACCCCTCCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(642): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTTGTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGT GGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGT GTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGG AGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGG GGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGG GAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGG GAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGG CAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGG GGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0035 a0003c0003t0003g0035	1	360	0.0028	649	c.57+ others(666): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGG GAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGG GGGAGTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTG GGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGG TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGT TGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGG TTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTT GAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTG GTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTT GATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGG TTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(642): Show TCTGCTCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTT CCCTCCCCTCCTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCT CCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCC CTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCC CCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCC TCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0020 a0002c0008t0001g0020	1	140	0.0071	649	c.114 others(668): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCT CTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCC TCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCC CTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCC TCTCCCCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTC CCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCC CCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(642): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCC TCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02300.hp2 HG01981.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0046 a0001c0002t0001g0048	2	140	0.0143	649	c.114 others(668): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC TCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCC CCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(642): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCT CCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCC TCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0078 a0003c0003t0001g0078	1	140	0.0071	649	c.114 others(668): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCC TCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTC TCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCC CCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(642): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTTCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCT CCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCC TCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	140	0.0071	649	c.114 others(668): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTTCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCC TCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTC TCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCC CCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(642): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCTC TTCCCTCCCCTCCCCTCTCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCG TCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCCCTCCC TCCCCTCCTCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCTCCC CTCCTCCCCTCCCTCCCTCCCCTCCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCT CCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCC TCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0114 a0003c0003t0001g0114	1	140	0.0071	649	c.114 others(668): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCT CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCC TCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCTCCCGTCT CCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTC CCCTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCTCCCCTCCCTCCCCTCCCTCCCCTCCTCCTCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCTCCTCCCCTCCTCCCCTCCCTCCCTCCCCTCCCTCC CCTCCTCCCCTCCTCCCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCC TCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTC TCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCC CCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(642): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGG CTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	394	0.0025	649	c.-8+ others(662): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(642): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTACC CCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCT ACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	394	0.0025	649	c.-8+ others(662): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGGTAGCGGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTA GGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGT AGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(642): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCC CCGGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	394	0.0025	649	c.-8+ others(662): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAG GTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTA GGGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(642): Show CTGTATACATGTACAGCATGTATACTGTATACATGTACAGCATGTATACT GTATATATGTACAGCATGTATACTGTATATATGTACAGCATGTATACTGT GTACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATGTATA CTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTATACT GTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACA GTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGT ATGTATACTGTGTATATATACACAGTATGTATACTGTGTATATATACACA GTATGTATACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTA TGTATACTGTATACATACTGCATGCAGTATGTATACTGTATATATACACT ATACAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATA TATACACAATACAGTATGTATACTGTATATATACACAATACAGTATGTAT ACTGTATATATACACAATACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0014 a0001c0005t0009g0014	1	362	0.0028	649	c.-75 others(668): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATATATAC AGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATAGTGT ATATATACAGTATACATACTGTATAGTGTATATATACAGTATACATACTG CATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACAGTAT ACATACTGTATGCAGTATACATACTGTGTATATATACACAGTATACATAC TGTGTATATATACACAGTATACATACTGTGTATATATACGGTATACATAC TGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACTG TGTATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTG TATATATACGGTATACATACATACAGTATACATACATACAGTATACATAC ATACAGTATACATGCTGTATACAGTATACATGCTGTATACAGTATACATG CTGTATACAGTATACATGCTGTACACAGTATACATGCTGTACATATATAC AGTATACATGCTGTACATATATACAGTATACATGCTGTACATGTATACAG TATACATGCTGTACATGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(642): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGA GGGTGGGGAGGGAGGGTGGAGGAGAGTGGGGAGGGCAGGGAGGGTGGAGG GGGGAAAGTGGGGAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAG AGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGGAGGGAGG GAGAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGGGG AGGGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGGAG GGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGAGT GGGGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAGGTTG GAGGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGAGGGTGGG GAGGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTGGAGAGGG AGGGTGGAGGGGAAGGAGGGTGGAGGGAGGAGAGTGGGGAAGGTGGAGGG GAGGGAGGGTGGAGGGCAGGGATGGTGGAGGGAGGGAGAGTGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	196	0.0051	649	c.321 others(668): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCCTCCCTCCAC CATCCCTGCCCTCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCTCCC TCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCCA CTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTCC CTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCCC CACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTGC CCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCTCC TCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCACCCTCC CTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCTGCCTTCCTCCC TCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCCT CCACCCTCCCTCCCCACTTTCCCCCCTCCACCCTCCCTGCCCTCCCCACT CTCCTCCACCCTCCCTCCCCACCCTCCCTGTCCTCCATCCTCCCTCCCCA CCCTCCCTCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCCCTCCCCTCC ACCCTCCTTACCTTCTACCCTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(642): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGA GGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGGTGGAG GGGGGAAGTGGGGAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAG AGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCGGGGGGGAGGGAGGG AGAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGGGGA GGGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGGAGG GTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGAGTG GGGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAGGTTGG AGGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGAGGGTGGGG AGGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTGGAGAGGGA GGGTGGAGGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAAGGTGGAGGG GAGGGAGGGTGGAGGGCAGGGATGGTGGAGGGAGGGAGAGTGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0074 a0001c0001t0019g0074	1	196	0.0051	649	c.321 others(668): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCCTCCCTCCAC CATCCCTGCCCTCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCC CTCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCC ACTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTC CCTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCC CCACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTG CCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCTC CTCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCACCCTC CCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCGCCTTCCTCCC TCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCCT CCACCCTCCCTCCCCACTTCCCCCCTCCACCCTCCCTGCCCTCCCCACTC TCCCTCCACCCTCCCTCCCCACCCTCCCTGTCCTCCATCCTCCCTCCCCA CCCTCCCTCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCCCTCCCCTCC ACCCTCCTTACCTTCTACCCTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(642): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGA GGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGGTGGAG GGGGGGAAGTGGGGAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGA GAGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCGGGGGGGAGGGAGG GAGAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGGGG AGGGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGGAG GGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGAGT GGGGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAGGTTG GAGGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGAGGGTGGG GAGGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTGGAGAGGG AGGGTGGAGGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAAGGTGGAGG GGAGGGAGGGTGGAGGGCAGGGATGGTGGAGGGAGGAGAGTGGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0018 a0001c0010t0018	a0001c0010t0018g0133 a0001c0010t0018g0133	1	196	0.0051	649	c.321 others(668): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCTCCCTCCACC ATCCCTGCCCTCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCCC TCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCCA CTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTCC CTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCCC CACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTGC CCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCTCC TCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCACCCTCC CTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCGCCTTCCTCCCT CCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCCTC CACCCTCCCTCCCCACTTCCCCCCCTCCACCCTCCCTGCCCTCCCCACTC TCCCTCCACCCTCCCTCCCCACCCTCCCTGTCCTCCATCCTCCCTCCCCA CCCTCCCTCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCCCTCCCCTCC ACCCTCCTTACCTTCTACCCTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(642): Show TAGTAACTATATTAATAATATAGTATATTAATATATAGTAACTATATTAA TATATAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACT ATATTAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTAT ATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATAT AGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGT AACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0265 a0002c0002t0001g0265	1	422	0.0024	649	c.195 others(666): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTAATATAGTTACTATATATTAATATATACTAACT ATATTAATATAGTTACTATATATTAATATAGTTACTATATATTAATATAC TATATTATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136534884	G G	GCCCCCCA others(642): Show GCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCGAGTCCGTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCA GTCCCTCCCCACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCC CTCCCCAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCC ACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAG AGCCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCC CCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCG AGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCC CTCCCCACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCA CAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGC CCCCCAGTCCCCCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCG AGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGAC ACCAGGCTCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	324	0.0031	649	c.140 others(666): Show c.140+9139_140+9140insGCTCTGTGGGGAGGGACTGGGGGCTCTG TGGGGAGGGACTGGAGCCTGGTGTCCAGTGGGGCCTGTGGGGACAGACTC GGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGG CTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCCTGT GGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTCTGTGGGGA CGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACT GGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGG GCTCTGTGGGGAGGGACTGGGGGGGCTCTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTG GGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGA GGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACT TGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGG GGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCT CTGTGGGGAGGGACTGGGGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRAP_chr10_113583714_113669041	113647596	A A	AGTGGTAC others(642): Show AGTGGTACTGTCTCCCCCGGTGGTACTTCCTCCCCTAGTGGTACTGTCTC CCCCCGGTGGTACTGCCTCCCCCGGTGGTACTGTCTCCCCTGGTGGTACT GTCTCCCCCAGTGGTACTGCCTCCCCCAGTGGTACTGTCTCCCCTGGTGG TACTGTCTCCCCCAGTGGTACTGCCTCCCCCAGTGGTACTGCCTCCCCCA GTGGTACTGCCTCCCCTGGTGGTACTTCCTCCCCTAGTGGTACTGTCTCC CCCGGTGGTACTTCCTCCCCAAGTGGTACTGCCTCCCCCAGTGGTACTGT CTCCCCTGGTGGTACTGTCTCCCCCAGTGGTACTGCCTCCCCCAGTGGTA CTGCCTCCCCCAGTGGTACTGCCTCCCCTGGTGGTACTTCCTCCCCTAGT GGTACTGTCTCCCCCGGTGGTACTTCCTCCCCAAGTGGTACTGTCTCCCC CAGTGGTACTGCCTCCCCCAGTGGTACTGTCTCCCCTGGTGGTACTGTCT CCCCCAGTGGTACTGCCTCCCCCAGTGGTACTGCCTCCCCCAGTGGTACT GCCTCCCCTGGTGGTACTTCCTCCCCTAGTGGTACTGTCTCCCCTGGTGG TACTGTCTCCCCCGGTGGTACTTCCTCCCCTAGTGGTACTGTCTCCCCCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0062 a0062	a0062c0064 a0062c0064	a0062c0064t0005 a0062c0064t0005	a0062c0064t0005g0054 a0062c0064t0005g0054	1	398	0.0025	649	c.889 others(664): Show c.889-570_889-569insCGGGGGAGACAGTACCACTAGGGGAGGAAG TACCACCGGGGGAGACAGTACCACCAGGGGAGACAGTACCACTAGGGGAG GAAGTACCACCAGGGGAGGCAGTACCACTGGGGGAGGCAGTACCACTGGG GGAGGCAGTACCACTGGGGGAGACAGTACCACCAGGGGAGACAGTACCAC TGGGGGAGGCAGTACCACTGGGGGAGACAGTACCACTTGGGGAGGAAGTA CCACCGGGGGAGACAGTACCACTAGGGGAGGAAGTACCACCAGGGGAGGC AGTACCACTGGGGGAGGCAGTACCACTGGGGGAGGCAGTACCACTGGGGG AGACAGTACCACCAGGGGAGACAGTACCACTGGGGGAGGCAGTACCACTT GGGGAGGAAGTACCACCGGGGGAGACAGTACCACTAGGGGAGGAAGTACC ACCAGGGGAGGCAGTACCACTGGGGGAGGCAGTACCACTGGGGGAGGCAG TACCACTGGGGGAGACAGTACCACCAGGGGAGACAGTACCACTGGGGGAG GCAGTACCACTGGGGGAGACAGTACCACCAGGGGAGACAGTACCACCGGG GGAGGCAGTACCACCGGGGGGAGACAGTACCACTAGGGGAGGAAGTACCA CCGGGGGAGACAGTACCAC	NRAP	ENSG00000197893.14	transcript	ENST00000359988.4	protein_coding	9/41			chr10	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(642): Show AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG GGGGGGGGGGGGGTCGGCCAGCCGCCCCCGGCCGGGAGGTGAGGGGCTCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG TCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGC CCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCC GCCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCCGCCCAGGAGGGGA GGTGGGGGGGGTCAGCCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGG AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTCGTCCGGGAGG GGGGAGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGGTCAGCCCCCCGCCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	155	0.0065	649	c.155 others(668): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGGCG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCTCCCCCCTCCCGGACGAGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAG GCGGGGGGGCTGACCCCCCCCACCTCCCCTCCTGGGCGGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCG CCCCCTCACCTCCCGGACGGGGGCGGCTGGCCAGGCGGGGGGCTGACCCC CCACCTCCCTCCCGGACTGGGCGGGCTGGCCGGGCGGGGGGTTGACCCCC CCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGG CGGCTGGCCGACCCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PCBP3_chr21_45638725_45947450	45896476	G G	GGAGATGC others(642): Show GGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCA GACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTGTA GGAAAGGCGGCCGCGGCACATAGAACCAGAGATGCACTGCCCGGGCCATT GTCTCTGTAGGAAAGGCAGACATGGCACATAGAACTGGAGACGCACTGCC TGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCAGAGA TGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAG AACTGGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACAT GGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAAA GGCAGACATGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTC TGTAGGAAAGGCGGCCGCGGCACATAGAACTGGAGACGCACTGCCCGGGC CATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCAC TGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	292	0.0034	649	c.165 others(664): Show c.165+153_165+154insGGCCGCGGCACATAGAACCGGAGATGCACT GCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGG AGATGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGCGGCCGCGGCACA TAGAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGA CATGGCACATAGAACTGGAGACGCACTGCCTGGGCCATTGTCTCTGTAGG AAAGGCAGACATGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGT CTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGGAGACGCACTGCCCG GGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATG CACTGCCCGGGCCATTGGCACTGTAGGAAAGGCAGACATGGCACATAGAA CCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGG CACATAGAACTGGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGG CAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTG TAGGAAAGGCGGCCGCGGCACATAGAACCAGAGATGCACTGCCCGGGCCA TTGTCTCTGTAGGAAAGGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45896953	T T	TGCACTGC others(642): Show TGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGCAGACATGGCACATAG AACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGC GGCACATAGAACTGGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAA GGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTC TGTAGGAAAGGCGGCCGCGGCACATAGAACCAGAGATGCACTGCCCGGGC CATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCAC TGCCCGGGCCATTGGCACTGTAGGAAAGGCGGCCGCGGCACATAGAACTG GAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCAC ATAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGCGG CCGCGGCACATAGAACCAGAGATGCACTGCCCAGGCCATTGTCTCTGTAG GAAAGGCAGACATGGCACATAGAACCGGAGACGCACTGCCTGGGCCATTG TCTCTGTAGGAAAGGCAGACATGGCACATAGAACCAGAGATGCACTGCCC GGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGGAGAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0111 a0001c0001t0023g0111	1	292	0.0034	649	c.165 others(664): Show c.165+609_165+610insGCACTGTAGGAAAGGCAGACATGGCACATA GAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCG CGGCACATAGAACTGGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAA AGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCT CTGTAGGAAAGGCGGCCGCGGCACATAGAACCAGAGATGCACTGCCCGGG CCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCA CTGCCCGGGCCATTGGCACTGTAGGAAAGGCGGCCGCGGCACATAGAACT GGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGCG GCCGCGGCACATAGAACCAGAGATGCACTGCCCAGGCCATTGTCTCTGTA GGAAAGGCAGACATGGCACATAGAACCGGAGACGCACTGCCTGGGCCATT GTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCAGAGATGCACTGCC CGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGGAGA CGCACTGCCCGGGCCATTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45896953	T T	TGCACTGC others(642): Show TGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGCAGACATGGCACATAG AACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGC GGCACATAGAACTGGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAA GGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTC TGTAGGAAAGGCGGCCGCGGCACATAGAACCAGAGATGCACTGCCCGGGC CATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCAC TGCCCGGGCCATTGGCACTGTAGGAAAGGCGGCCGCGGCACATAGAACTG GAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCAC ATAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGCGG CCGCGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAG AAAAGGCAGACATGGCACATAGAACCGGAGACGCACTGCCTGGGCCATTG TCTCTGTAGGAAAGGCAGACATGGCACATAGAACCAGAGATGCACTGCCC GGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGGAGAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03195.hp1 HG02896.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0029 a0001c0001t0003g0030	2	292	0.0069	649	c.165 others(664): Show c.165+609_165+610insGCACTGTAGGAAAGGCAGACATGGCACATA GAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCG CGGCACATAGAACTGGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAA AGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCT CTGTAGGAAAGGCGGCCGCGGCACATAGAACCAGAGATGCACTGCCCGGG CCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCA CTGCCCGGGCCATTGGCACTGTAGGAAAGGCGGCCGCGGCACATAGAACT GGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGCG GCCGCGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTA GAAAAGGCAGACATGGCACATAGAACCGGAGACGCACTGCCTGGGCCATT GTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCAGAGATGCACTGCC CGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGGAGA CGCACTGCCCGGGCCATTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45896953	T T	TGCACTGC others(642): Show TGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGCAGACATGGCACATAG AACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGC GGCACATAGAACTGGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAA GGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTC TGTAGGAAAGGCGGCCGCGGCACATAGAACCAGAGATGCACTGCCCGGGC CATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCAC TGCCCGGGCCATTGGCACTGTAGGAAAGGCGGCCGCGGCACATAGAACTG GAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCAC ATAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGCGG CCGCGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAG GAAAGGCAGACATGGCACATAGAACCGGAGACGCACTGCCTGGGCCATTG TCTCTGTAGGAAAGGCAGACATGGCACATAGAACCAGAGATGCACTGCCC GGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGGAGAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01928.hp2 HG01943.hp1 others(34): Show HG01123.hp1 HG01928.hp2 HG01943.hp1 HG02027.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02145.hp2 HG02257.hp1 HG02615.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG03486.hp2 HG04204.hp1 NA18747.hp2 NA18940.hp2 NA18943.hp2 NA18951.hp2 NA18957.hp1 NA18963.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA19002.hp2 NA19005.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19079.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0013 a0001c0001t0021 others(1): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0021 a0001c0003t0020	a0001c0001t0003g0008 a0001c0001t0003g0028 a0001c0001t0003g0032 others(34): Show a0001c0001t0003g0008 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0048 a0001c0001t0003g0056 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0112 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0013g0182 a0001c0001t0021g0085 a0001c0003t0020g0222	37	292	0.1267	649	c.165 others(664): Show c.165+609_165+610insGCACTGTAGGAAAGGCAGACATGGCACATA GAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCG CGGCACATAGAACTGGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAA AGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCT CTGTAGGAAAGGCGGCCGCGGCACATAGAACCAGAGATGCACTGCCCGGG CCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCA CTGCCCGGGCCATTGGCACTGTAGGAAAGGCGGCCGCGGCACATAGAACT GGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGCG GCCGCGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTA GGAAAGGCAGACATGGCACATAGAACCGGAGACGCACTGCCTGGGCCATT GTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCAGAGATGCACTGCC CGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGGAGA CGCACTGCCCGGGCCATTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDCD6_chr5_266646_319974	318049	C C	CCCTCCCC others(642): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCA CCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCC CCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCC CCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTT CCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTC CCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACC CTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCATCTCCCCCAA CCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCC CCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACC TCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0304 a0002c0003t0001g0304	1	360	0.0028	649	c.35 others(660): Show c.3534_*3535insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCACCTCCTCCCCAGCCT CCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCC CCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCT CCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTC ACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCC CCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCA CCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACC CTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCA CCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCG CCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCT GCCCCCAACCCTGCA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3076		chr5	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(642): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGG CTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0007 a0003c0003t0004g0007	1	376	0.0027	649	c.15 others(660): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(642): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGG CTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTACC CCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTAC CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0111 a0003c0003t0001g0111	1	376	0.0027	649	c.15 others(660): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGG GGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(642): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTACC CCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCT ACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	376	0.0027	649	c.15 others(660): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGGTAGCGGGTGAG AGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTG AGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGG GGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(642): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCC CCGGCCCCCGGCTCTCACCTCCTAACCCGGCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0107 a0003c0003t0001g0107	1	376	0.0027	649	c.15 others(660): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAGGT GAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGG GGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(642): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTG TGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGG TGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGCGTGGGGATGCACTGA GTCTGGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGG GTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTG AGTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGAGGGGG GGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCAC TGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGGAG GGCGGGGCGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGCGTGGGGA TGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0245 a0002c0007t0001g0245	1	282	0.0036	649	c.299 others(664): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGA CTCAGTGCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCACA CCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCA GACTCAGTGCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCA CGCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACGCCCCCCCTCCCCCC AGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCC CACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCC CCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATC CCCACACCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCAT CCCCAGACTCAGTGCATCCCCATGCCCCGCCCTCTCCCCAGACTCAGTGC ATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(642): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ACCATCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAT CACCACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCAC CACCACCATCACCATCACCATCACCACCATCATCATCACCACCATCACCA CCACCACCACCACCATCATCACCATCACCACCAGCACCACCACCAACATC ATCATCATCACCACCACCACCACCATCACCACCACCACCACCATCAACAC CACCATCACCACCACCATCATCATCACCACCACCACCATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01070.hp1 HG01175.hp2 others(7): Show HG00733.hp1 HG01070.hp1 HG01175.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG02818.hp1 HG03195.hp1 HG03486.hp2	a0003 a0004 a0007 others(5): Show a0003 a0004 a0007 a0008 a0009 a0013 a0016 a0023	a0003c0003 a0003c0008 a0004c0002 others(6): Show a0003c0003 a0003c0008 a0004c0002 a0007c0009 a0008c0010 a0009c0017 a0013c0050 a0016c0032 a0023c0071	a0003c0003t0013 a0003c0008t0002 a0004c0002t0003 others(6): Show a0003c0003t0013 a0003c0008t0002 a0004c0002t0003 a0007c0009t0002 a0008c0010t0001 a0009c0017t0030 a0013c0050t0002 a0016c0032t0002 a0023c0071t0001	a0003c0003t0013g0005 a0003c0008t0002g0199 a0004c0002t0003g0135 others(7): Show a0003c0003t0013g0005 a0003c0008t0002g0199 a0004c0002t0003g0135 a0007c0009t0002g0223 a0008c0010t0001g0122 a0009c0017t0030g0319 a0013c0050t0002g0197 a0016c0032t0002g0219 a0016c0032t0002g0220 a0023c0071t0001g0079	10	322	0.0311	649	c.48 others(660): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGGT GATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGA TGGTGAGATGGTGGTGATGGTGATGGTGATGGTGATGGTGGTGGTGATGG TGGTGGTGATGATGGTGGTGATGGTGATGATGGTGAGATGGTGGTGATGG TGGTGGTGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTG GTGATGGTGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCT GGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGG TGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGATGGTGATGA TGATGGTGGTGGTGATGGTGAGATGGTGGTGATGGTGGTGGTGGTGGTTA TGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTGATGATGGTG ATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PLXNB2_chr22_50269979_50312646	50274865	C C	CTCCCAAC others(642): Show CTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAACCCCCCACCTCCC CCCAGCACCCCTCCCAGCCCCCTCCACCTCCCGCAGCACCCCTCCCAGCC CCTTCCACCTCCCCCAGCACCCCTCCCAACCCACCTCCCCCAGCACCCCT CCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCC CCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGC CCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCA GCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCC TCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAGTACCC CTCCCAGCCCCTTCCACCTCCCCCAGCACCCCTCCCAACCCCCCACCTCC CCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAG CCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAG CACCACCCCCAGCCCCCTCCACCTCCCCCAGCATCCCTCCCAGCCCCCTC CACCTTTCCCAGCACCCTTCCCAGCCCCCTCCACCTCCCCACAGCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0027 a0027	a0027c0069 a0027c0069	a0027c0069t0003 a0027c0069t0003	a0027c0069t0003g0248 a0027c0069t0003g0248	1	302	0.0033	649	c.83 others(658): Show c.838_*839insTGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGAAGGG TGCTGGGAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAGGG GGCTGGGGGTGGTGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGG GGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGG GAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAGGTG GAAGGGGCTGGGAGGGGTACTGGGGGAGGTGGAGGGGGCTGGGAGGGGTG CTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGG GCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGG GGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTG GGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGA GGTGGGGGGTTGGGAGGGGTGCTGGGGGAGGTGGGTTGGGAGGGGTGCTG GGGGAGGTGGAAGGGGCTGGGAGGGGTGCTGCGGGAGGTGGAGGGGGCTG GGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGGAGG TGGGGGGTTGGGA	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		113		chr22	TogoVar
PRDM16_chr1_3064203_3443621	3165939	A A	ACTCACCT others(642): Show ACTCACCTGGGCTCAGGGACAGGGACTCACCAGGGCTCAGGGACAGGGAC TCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTC ACCTGGGCTCAGGGACAGGGACTCACCAGGGCTCAGGGACAGGGACTCAC CTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCT GGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCAGG GCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGC TCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCAGGGCTC AGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAG GGACAGGGACTCACCAGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGG ACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGAC AGGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAG GGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGG ACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGAACGGAGGC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	210	0.0048	649	c.38- others(666): Show c.38-20179_38-20178insGGGCTCAGGGACAGGGACTCACCAGGGC TCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTC AGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCAGGGCTCAG GGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGG ACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGAC AGGGACTCACCAGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAG GGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGG ACTCACCAGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGAC TCACCTGGGCTCAGGGACAGGGACTCACCAGGGCTCAGGGACAGGGACTC ACCTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCAC CTGGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCT GGGCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGG GCTCAGGGACAGGGACTCACCTGGGCTCAGGGACAGGGACTCACCTGGGC TCAGGAACGGAGGCCTCACCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTK6_chr20_63523001_63542376	63535841	C C	CCTCACCT others(642): Show CCTCACCTGGCCTCCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTC ACCTGGCCTCCCGCCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCT GGCCTCCCGCCCCCTCCTCTCCTGGCCTCCCGCCCCCCCCCTCACCTGGC CTCCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTCACCTGGCCTCC CGCCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCC CCCTCCTCTCCTGGCCTCCCGCCCCCCCCCTCATCTGGCCTCCCGCCCCC TCCTCACCTGGCCTCCCGCCCCCTCCTCTCCTGGCCTCCCGCCCCCCCCC TCACCTGGCCTCCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTCAC CTGGCCTCCCGCCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCTGG CCTCCCGCCCCCTCCTCTCCTGGCCTCCCGCCCCCCCCCTCACCTGGCCT CCCACCCCGTCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCG CCCCCTCCTCACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCGCCCC CCCCCTCACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCCCCT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0250 a0001c0002t0012g0250	1	344	0.0029	649	c.231 others(664): Show c.231-783_231-782insAGGGGGCGGGAGGCCAGGTGAGGGGGGGGG CGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGGTGAGGGGGGGGCGG GAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGG CCAGGTGAGGACGGGGTGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCA GGAGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGATG AGGGGGGGGCGGGAGGCCAGGTGAGGGGGGTGCGGGAGGCCAGGTGAGGA CGGGGTGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGGAGAGGAGGG GGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGATGAGGGGGGGGGC GGGAGGCCAGGAGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGA GGCCAGATGAGGGGGGGGCGGGAGGCCAGGTGAGGGGGGTGCGGGAGGCC AGGTGAGGACGGGGTGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGG AGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGATGAG GGGGGGGCGGGAGGCCAGGTGAGGGGGGTGCGGGAGGCCAGGTGAGGACG GGGTGGGAGGCCAGGTGAG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTPRT_chr20_42067756_43194906	43068103	G G	GGAGGGAG others(642): Show GGAGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGG AGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGCAGAGACGAGGGAAGG AAGGAAGGGCAGAGACGAGGGAAGGAAGGAAGGGCAGAGAGGAGGAAAGG AAGGGGTGAGAGGAGGGAAGGAAGGGGTGAGAGGAGGGAAGGAAGGGGGA GAGGAGGGAAGGAAGGGGGGAGAGGAGAGAAGGAAGGGGGAGAGGAGGGA AGGAAGGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGGGAAGGAAGGGG GGAGAGGAGGGAAGGAAGTGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGA GGGAAGGAAGGGGGAGAGGAGGAAAGGAAGGTGGGAGAGGAGGAAAGGAA GGGGGGAGAGGAGGAAAGGAAGGGGGGAGAGGAGGAAAGGAAGGGGGAGA GGGAGGGAGGAAGGGGGAGGGAGGGAGGAAGGAAGGAAGGAAGCAAGCAA GCAAGCAAAGCTGCTCAGAAGCTAACTTCAGGAAGAAGGGAGGGAAGCTA ACTTCAGAAGCTAACTTCAGGAGGGAGGGAAGGAAGGAAGGGAAGAAGGA GGGAAGGGAGGTAGGAAGGAGGGAGGGAAGGGAGGAAGGGAGGAGGGAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0030 a0002c0016t0030	a0002c0016t0030g0014 a0002c0016t0030g0014	1	62	0.0161	649	c.88+ others(668): Show c.88+121542_88+121543insTTTCCCTCCTCCCTTCCTCCCTTCCC TCCCTCCTTCCTACCTCCCTTCCCTCCTTCTTCCCTTCCTTCCTTCCCTC CCTCCTGAAGTTAGCTTCTGAAGTTAGCTTCCCTCCCTTCTTCCTGAAGT TAGCTTCTGAGCAGCTTTGCTTGCTTGCTTGCTTCCTTCCTTCCTTCCTC CCTCCCTCCCCCTTCCTCCCTCCCTCTCCCCCTTCCTTTCCTCCTCTCCC CCCTTCCTTTCCTCCTCTCCCCCCTTCCTTTCCTCCTCTCCCACCTTCCT TTCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCCTTCCTTCCCTCCTC TCCCCACTTCCTTCCCTCCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCCT TCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCTCTC CTCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCACCC CTTCCTTCCCTCCTCTCACCCCTTCCTTTCCTCCTCTCTGCCCTTCCTTC CTTCCCTCGTCTCTGCCCTTCCTTCCTTCCCTCGTCTCTGCCCTTCCTTC CTCCCCTCCCTCCCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCC TCCCTCCCCTTCCTTCCTCCCTC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RAB11FIP3_chr16_420649_528011	492388	A A	AGCCCTCC others(642): Show AGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	295	0.0034	649	c.126 others(668): Show c.1265+3418_1265+3419insAGCCCTCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RIGI_chr9_32450302_32531196	32528058	T T	TAAGATTT others(642): Show TAAGATTTCATTTTCGACTCAGCACACACTTCACCCCTCTAGGGCAGGCC ACGGCCTCGAAGTCCCTCCTTACGAGGAGCCCCTCTGCCCGGCCACCACC CCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACA ATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAG AAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACT TTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTT GATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGT CCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAA CAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAAT CTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGC CTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCT CCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCA AGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	344	0.0029	649	c.-18 others(660): Show c.-1893_-1892insTTTTTTTTTTTTTTTTTTTTTTTTAAATTTATTT TTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGT CATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGG TCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTG TCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGC TGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCC ATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGG GGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGT GCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACAC GGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTAT TCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGG CACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCGTAAGGA GGGACTTCGAGGCCGTGGCCTGCCCTAGAGGGGTGAAGTGTGTGCTGAGT CGAAAATGAAATCTT	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding		1863		chr9	TogoVar
RIN3_chr14_92508781_92693994	92547347	C C	CTTTATTT others(642): Show CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATT ATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATT TTATTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTT TATTATAAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATT ATTATAAAATAAATTATCTTTATTTTATTATTATAATAAATTATCTTTAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0192 a0003c0003t0001g0192	1	334	0.0030	649	c.45- others(664): Show c.45-8398_45-8397insTTATTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATTA TAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATA AATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATA AAATAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAA ATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATTATAAAATA AATTATCTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAT AAATTATCTTTATTTTATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(642): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAA GAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGACGT CCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGA GAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAATAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAA CAGCAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGA GGAGGAAGCACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0202 a0001c0040t0001g0202	1	203	0.0049	649	c.-12 others(668): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTG TCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTG TTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGG CATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(642): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCC CAGATGCCAGGGGCAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGA AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAA GAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGACGT CCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGA GAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAATAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAA CAGCAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGA GGAGGAAGCACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0019 a0002c0003t0001g0019	1	203	0.0049	649	c.-12 others(668): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTG TCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTG TTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCC TGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACC TGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SHOX_chrX_625791_656584	626585	G G	GTCTGTCT others(642): Show GTCTGTCTCTGTCTCTCTCTCTCCTCTCTCTGTATCTCTGTCTCTGTCTC TCTTTCTCTCCTCTCTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCTC TCTCTCTTTTTCTCTGTCTCTGTATCTCTGTCTATCTCTGTCTCTCTTTC TCTCTCTCATCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCT ACCTCTGTCTCTCTTTCTCTCCTCTCTTTTTCTCTGTCTCTGTATCTCTA TCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTCTGT CTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCTCTCCTCTCTTTTTCTC TGTCTCTGTCTGTATCTCTGTCTGTCTCTGTCTCTCTCTCTCCTCTCTCT CTTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTGT CTTCGTTCCTCTCTCTCTTTTTCTCTTTCTCTGTATCTCTGTCTATCTCT GTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTC TCTGTGTCTCTACCTCTGTCTCTCTTTCTCTCCTCTCTTTTTCTCTGTCT CTGTCTGTATCTCTGTCTGTCTCTGTCTCTCTCTCTCCTCTCTCTGTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0130	a0001c0001t0130g0148 a0001c0001t0130g0148	1	220	0.0046	649	c.-43 others(660): Show c.-4313_-4312insTCTGTCTCTGTCTCTCTCTCTCCTCTCTCTGTAT CTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTGTATCTCTGTCTCTGTC TCTCTTTCTCTCCTCTCTCTCTTTTTCTCTGTCTCTGTATCTCTGTCTAT CTCTGTCTCTCTTTCTCTCTCTCATCTCTCTCTGTCTCTTTTTCTCTGTC TCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCTCTCCTCTCTTTTTCTCT GTCTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTG TCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCTC TCCTCTCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTGTCTCTGTCTCT CTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTC TCTCTTTCTCTCTGTCTTCGTTCCTCTCTCTCTTTTTCTCTTTCTCTGTA TCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCTCT TTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCTCTCCTC TCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTGTCTCTGTCTCTCTCTC TCCTCTCTCTGTATC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4205		chrX	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(642): Show GGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAGGGTGGGGAGGGGAGGG CAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAGGGCAGAGGAGGGG AGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAAGGGAGAGGGGAGA GGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGGGGGATGGGGAGAG GGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGATGGGGA AGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGGGGAG GGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAG GAGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGG AGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGA GGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGG AGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGG AGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	649	c.12 others(660): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCC TCCCTCCTCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTC CCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCTCC CCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCC CTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCC TCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTCCTC TCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCC TCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTC TCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCC TTCCTTCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(642): Show GGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAGGGTGGGGA GGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAGGGCAG AGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAAGGGAG AGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGGGGGAC GGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAGTGGGA GGGGGAGGGGAGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGG GAGAGGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGAG GAGGGAGGGGGAGGGGAGGGGAAGGGGGAAGGGGAAGGGGGAGGAGGGAG GGGGAGGGGAGGGGAAGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGG GAGGGGAGGAGGGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGG GAGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	649	c.12 others(660): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCC TTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCTTCCCCT CCCCTCCCCCTCCCTCCTCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCC CCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCC CCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCC TCCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCTCCTCCCCTCCCCCTCCCACTCCCCCTCCCCTTCCCCTCCTCTGCCCT CCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTC ACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCT CCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCC CTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCC TCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(642): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGA GGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGG AGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCA GAGGAGGGGAAGAGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGG GAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAG GGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGA GGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGA GGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGG GAAGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGG AGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGA GGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGG AGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGG AGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	649	c.12 others(660): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCC TTCCCCTTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCT CCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATC CCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCC TCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCC GTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCT CTCTCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCT CTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCC TCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(642): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGG GAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGG GAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGA GCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG04115.hp1 NA18993.hp1 HG02040.hp2 HG04115.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0235 a0001c0001t0002g0271 a0001c0002t0001g0025 a0001c0001t0002g0235 a0001c0001t0002g0271 a0001c0002t0001g0025	3	364	0.0082	649	c.157 others(668): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCCCG TTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCGTT CCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCACCC CGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCCCG TTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCT GCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCACC CCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCC CACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCG TTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TBXAS1_chr7_139824264_140025293	139950681	C C	CCCCCTCG others(642): Show CCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACC CCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGATCCCCTCGCCCTCCATCTACAGGATCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCATCTACGGGAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	270	0.0037	649	c.451 others(666): Show c.451-2664_451-2663insTCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGATCCCCTCGCCCTCCATCTACAGGATCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACC CCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCATCTACGGGATCC CCTCGCCCTCCATCTACGGGA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM255B_chr13_113754226_113821995	113817317	T T	TCCTCCCC others(642): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAG GGGACACATCCCCCCTCCCCCCCACAGGACACATCCCCCCTCCCCCCACG GGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGAC ACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCAC ATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCC CCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0079 a0006c0028t0079	a0006c0028t0079g0036 a0006c0028t0079g0036	1	260	0.0039	649	c.54 others(660): Show c.5414_*5415insCCTCCCCCCACGGGACACATCCCCCCTCCCCCCA CGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACAC ATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCCACAGGACACATC CCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCC CCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCC CTCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCT CCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCT CCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCC AGGGGACACATCCCC	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		323		chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113817328	C C	CGGGACAC others(642): Show CGGGACACATCCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCAC GGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGG GACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGA CACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACA CATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACA TCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATC CCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCC CCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCC CTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCT CCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCT CCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCC AGGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0072 a0001c0001t0026g0072	1	260	0.0039	649	c.54 others(660): Show c.5425_*5426insGGGACACATCCCCCCCTCCCCCCACGGGACACAT ACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATAC CCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCC CCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCC TCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTC CCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCC TCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCC CACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCA CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGG GGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCAC ATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACAT ACCCCCTCCCTCCAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		334		chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113817328	C C	CGGGACAC others(642): Show CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACG GGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACAC ATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCC CCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCC CCTCCCTCCAGGGGACACATCCCCCCCTCCCCCCACGGGACACATCCCCC CTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCT CCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCT CCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCC AGGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0068 a0001c0001t0114g0068	1	260	0.0039	649	c.54 others(660): Show c.5425_*5426insGGGACACATCCCCCCTCCCCCCACGGGACACATA CCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACC CCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCC CTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCCTCCCCCCA CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGG GGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCAC ATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACAT ACCCCCTCCCTCCAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		334		chr13	TogoVar

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