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
DIP2C_chr10_269201_694668	478356	G G	GAAGAGGG others(354): Show GAAGAGGGGAGGGAGAAGAAGGGAGGGAGGGGAGAAGAGGGGAGGGGAGG GGAGAAGAGGGAGGGGAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGG AGGAGAGGGGAGGGGAGGGGAGAAGTGGGAAGGGAGGGAGGGGAGGGGAG AAGAGGGTGGGGAGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGAA GAAGGGAGGGGTGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGG GAGGGGAGAGAAGGGAGGGAGGGGTGGGGAGAGAAGGGAGGGGAGGGGAG GGAGGGGAGGGGAGGGGAGGGGGAAGAGGGAGGGGAGGGGAGGGGAGAAG AAGGGAGAAGAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0081 a0001c0021t0002g0081	1	88	0.0114	361	c.158 others(378): Show c.158-5808_158-5807insTTCTTCTCCCTTCTTCTCCCCTCCCCTC CCCTCCCTCTTCCCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCT TCTCTCCCCACCCCTCCCTCCCTTCTCTCCCCTCCCCTCCCCTCCCCTCC CTTCTTCTCCCCTCCCCTCCCCACCCCTCCCTTCTTCTCCCCTCCCCTCC CTTCTTCTCCCCTCCCCTCCCTCCCCACCCTCTTCTCCCCTCCCCTCCCT CCCTTCCCACTTCTCCCCTCCCCTCCCCTCTCCTCCCTTCTTCTCCCCTC CCTTCTTCTCCCCTCCCTCCCCTCCCTCTTCTCCCCTCCCCTCCCCTCTT CTCCCCTCCCTCCCTTCTTCTCCCTCCCCTCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1471343	C C	CGACCCCT others(354): Show CGACCCCTCCATCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAG CCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTTCCCGACC CCTGCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTT CCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCC AGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCCAGCCTTTCCCGA CCCCTCCAGCTTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTT TTCCTGACCCCTCCAGCCTTTCCCGACCCCTGCAGCCTTTCCCGACCCCT CCAGCTTTTCCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	40	0.0250	361	c.107 others(380): Show c.107-30013_107-30012insTCCTTTCCCGACCCCTCCAGGCTTTC CCGACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCA GCCTTTCCCGACCCCTGCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGAC CCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTT TCCTGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTC CAGCCTTTCCCGACCCCTCCAGCTTTTCCCGACCCCTCCAGCCTTTCCCG ACCCCTCCAGCTTTTCCTGACCCCTCCAGCCTTTCCCGACCCCTGCAGCC TTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(354): Show TTATTGTTACCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0108 a0001c0001t0009g0108	1	212	0.0047	361	c.162 others(374): Show c.162+29_162+30insTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTATTGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPH1_chr17_2025153_2048898	2035388	A A	AAGGGCCC others(354): Show AAGGGCCCTGCCTGCGGTGGGGAGGTAGCGGGGGTCCAGGCGAGGGGGCC CTGCCTGTGGTGGGGAGGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTA GTGGGGGTCCGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGG TCCCGGACGAGAGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGA CGAGAGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGG GCCCTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGG TAGTGGGGGTCCGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGG GGTCCGGACGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	392	0.0026	361	c.279 others(376): Show c.279-555_279-554insCGGGGGTCCAGGCGAGGGGGCCCTGCCTGT GGTGGGGAGGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGT CCGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCCGGAC GAGAGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGG CCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCCCTGCC TGTGGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGG GTCCGGACGAGAGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGA CGAGAGGGCCCTGCCTGCGGTGGGGAGGTAG	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(354): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATTTATATAAATACATTATATTTTATATATTTATATAAATACATTATAT TTTATATATTTATATAAATACATTATATTTTATATAATATATTATATATA ATATATATAATA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0182 a0001c0001t0022g0182	1	290	0.0035	361	c.-53 others(380): Show c.-53-10372_-53-10371insTATTATATATATTATATATAATATAT TATATAAAATATAATGTATTTATATAAATATATAAAATATAATGTATTTA TATAAATATATAAAATATAATGTATTTATATAAATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(354): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATTTATATAAATACATTATATTTTATATATTTATATAAATACATTATAT TTTATATATTTATATAAATATATTATATTTTATATAATATATTATATATA ATATATATAATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00544.hp1 others(20): Show HG00408.hp1 HG00423.hp2 HG00544.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG02004.hp2 HG02027.hp1 HG02074.hp2 HG02083.hp2 HG02300.hp1 HG02809.hp2 HG03654.hp1 NA18951.hp1 NA18959.hp2 NA18975.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA19060.hp2 NA19065.hp1 NA19079.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0019	a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 others(20): Show a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0207 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0232 a0001c0001t0003g0214 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0006g0208 a0001c0001t0012g0160 a0001c0001t0019g0169 a0001c0001t0019g0196	23	290	0.0793	361	c.-53 others(380): Show c.-53-10372_-53-10371insTATTATATATATTATATATAATATAT TATATAAAATATAATATATTTATATAAATATATAAAATATAATGTATTTA TATAAATATATAAAATATAATGTATTTATATAAATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNLT2B_chr3_196286219_196323240	196317484	T T	TGTGTGTG others(354): Show TGTGTGTGTTGTGTGGTGTGTGTGTGGTGTGTGTGCGTGTGTGTGTGTGT AAAGTTAGTGATCTTACAAACCTGAGTACCCTCTGCTCTGGCCCGTGAGC CTGACATTTTTTTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTG TGTGTGTGTAAAGTTAGTGATCTTACAAACCTAGCTGAGTACCCTCTGCT CTGGCCCGTGAGCCTGACATTTTTTTTCAGTGTGTGTGTGTGTGTGTTGT GTGTGTGTGTGTGTGTAAAGTTAGTGATCTTACAAACCTAGCTGAGTACC CTCTGCTCTGGCCCGTGAGCCTGATATTTTTTTCAGTGTGTGTGTGTGTG TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp1 HG02055.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	330	0.0061	361	c.113 others(376): Show c.113+555_113+556insCACACACACACACACACACACACACACTGA AAAAAATATCAGGCTCACGGGCCAGAGCAGAGGGTACTCAGCTAGGTTTG TAAGATCACTAACTTTACACACACACACACACACAACACACACACACACA CACTGAAAAAAAATGTCAGGCTCACGGGCCAGAGCAGAGGGTACTCAGCT AGGTTTGTAAGATCACTAACTTTACACACACACACACAACACACACACAC ACACACACACACACACTGAAAAAAAATGTCAGGCTCACGGGCCAGAGCAG AGGGTACTCAGGTTTGTAAGATCACTAACTTTACACACACACACACGCAC ACACACCACACACACACCACACAACACACAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
EHMT1_chr9_137614005_137841127	137716335	G G	GTGTCATG others(354): Show GTGTCATGGTGGGGAGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCAT GGTGGGGGAGGAAGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18906.hp2 HG01891.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0070 a0001c0004t0001g0071	2	170	0.0118	361	c.86- others(374): Show c.86-289_86-288insTCATGGTGGGGAGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGTCATGGTGGGGGAGGAAGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EPHA6_chr3_96809594_97766532	97146864	T T	TAAAAAGA others(354): Show TAAAAAGAAATGAAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	82	0.0122	361	c.111 others(382): Show c.1115-79384_1115-79383insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAAAAG	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAM219B_chr15_74894992_74911851	74898079	A A	AGAGACCA others(354): Show AGAGACCAGGTAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	361	c.45 others(372): Show c.4539_*4540insGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGAAATTACCTGGTCTC	FAM219B	ENSG00000178761.15	transcript	ENST00000357635.10	protein_coding		1912		chr15	TogoVar
FDCSP_chr4_70221124_70240252	70227583	T T	TAAAAAGC others(354): Show TAAAAAGCTTTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTT CCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCAT AGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCT TCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTC ATGTCCTTCGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTA GATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATAT GTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAAT AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	450	0.0022	361	c.-1+ others(376): Show c.-1+1413_-1+1414insTCCTATTTCTCCGCATCCTCTCCAGCACCT GTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGAT ATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAG CATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTG TCTGTTCATGTCCTTCGGAGGGGGGAGGGATAGCATTGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAATAAAAAAAAAAAAAAAAAGCTTTGT	FDCSP	ENSG00000181617.6	transcript	ENST00000317987.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNS_chr16_88808734_88861947	88831751	G G	GAGCGGTG others(354): Show GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGACAGCGGTGAGGCCG AGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGT GGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCG GTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCAC GGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGA GGACAGCGGTGAGGCGGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGG CGGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTG CGTGGGGAGGAC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	404	0.0025	361	c.100 others(378): Show c.1002+246_1002+247insGTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCCGCCTCACCGCTGTCCTCCCCACGCACCCCGT GCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCG CTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACG CACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCCACGCACCCCGTGCTCG GCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTGTC CTCCCCACGCACCCCGTGCTCGGCCTCACCGCT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GPR35_chr2_240620480_240638159	240623417	G G	GTGAGGGT others(354): Show GTGAGGGTGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGTGCAA ACAGGTCATGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAG GGCGCAAACAGGTCGTGAGGGTGCAAACAGGTCATGAGGGCGCAAACAGG TCATGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGC AAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTG AGGGTGCAAACAGGTCATGAGGGCGCAAACAGGTCGTGAGGGCGCAAACA GGTCGTGAGGGTGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGT GCAAACAGGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0159 a0003c0003t0001g0159	1	400	0.0025	361	c.-21 others(372): Show c.-2156_-2155insTGAGGGTGCAAACAGGTCGTGAGGGTGCAAACAG GTCGTGAGGGTGCAAACAGGTCATGAGGGCGCAAACAGGTCGTGAGGGCG CAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGTGCAAACAGGTCAT GAGGGCGCAAACAGGTCATGAGGGCGCAAACAGGTCGTGAGGGCGCAAAC AGGTCGTGAGGGCGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGG TGCAAACAGGTCGTGAGGGTGCAAACAGGTCATGAGGGCGCAAACAGGTC GTGAGGGCGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGTGCAA ACAGGTCGTGAGGGTGCAAACAGGTCA	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding		2062		chr2	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(354): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAG TAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG03471.hp2 NA18522.hp2 HG02559.hp2 HG03471.hp2 NA18522.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0174 a0006c0006t0002g0176 a0006c0006t0002g0201 a0006c0006t0002g0174 a0006c0006t0002g0176 a0006c0006t0002g0201	3	268	0.0112	361	c.-28 others(372): Show c.-2852_-2851insAGTAACTATATTAATATAGTTAGTATATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCTCCC others(354): Show CTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCCCC TCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTC CCCCCCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC TCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCT CCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	290	0.0035	361	c.427 others(378): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCC CTCCTCCTCCCCCCCCTCCTCCCCCCCCCCCCCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GUCY1A2_chr11_106669019_107023476	106710081	A A	ATGTATAT others(354): Show ATGTATATTATATACATGTATATAACATATAGTTATGTATATTATATACA TGTATATAACATATAGTTATGTATATTATATACATGTATATAACATATAG TTATGTATATTATATACATGTATATAACATATAGTTATGTATATTATATA CATGTATATAACATATAGTTATGTATATTATATACATGTATATAACATAT AGTTATGTATATTATATACATGTATATAACATAGTTATATACATATAACT ATATGTATATAATATATAGTACATGTATATAATATATAGTTATATATAAT ATAGTTATATACATGTATATAATATATAGTTATATATAATAGTTATATAT ATTATATACATG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp2 HG01169.hp2 others(18): Show HG00642.hp1 HG01106.hp2 HG01169.hp2 HG01243.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01952.hp2 HG02027.hp2 HG02145.hp1 HG02258.hp1 HG02273.hp1 HG02559.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03486.hp1 HG03927.hp2 NA19030.hp2 NA19058.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0004 a0001c0001t0006 a0001c0001t0038 others(8): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0038 a0001c0002t0004 a0001c0002t0012 a0001c0002t0032 a0001c0002t0039 a0001c0002t0067 a0001c0003t0004 a0001c0003t0034 a0001c0005t0004	a0001c0001t0004g0009 a0001c0001t0004g0042 a0001c0001t0004g0066 others(18): Show a0001c0001t0004g0009 a0001c0001t0004g0042 a0001c0001t0004g0066 a0001c0001t0004g0120 a0001c0001t0004g0138 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0006g0175 a0001c0001t0038g0092 a0001c0002t0004g0182 a0001c0002t0004g0183 a0001c0002t0004g0184 a0001c0002t0012g0181 a0001c0002t0032g0180 a0001c0002t0039g0215 a0001c0002t0067g0176 a0001c0003t0004g0234 a0001c0003t0004g0235 a0001c0003t0004g0247 a0001c0003t0034g0242 a0001c0005t0004g0048	21	256	0.0820	361	c.183 others(380): Show c.1837-1416_1837-1415insCATGTATATAATATATATAACTATTA TATATAACTATATATTATATACATGTATATAACTATATTATATATAACTA TATATTATATACATGTACTATATATTATATACATATAGTTATATGTATAT AACTATGTTATATACATGTATATAATATACATAACTATATGTTATATACA TGTATATAATATACATAACTATATGTTATATACATGTATATAATATACAT AACTATATGTTATATACATGTATATAATATACATAACTATATGTTATATA CATGTATATAATATACATAACTATATGTTATATACATGTATATAATATAC ATAACTATATGTTATATACATGTATATAATATACA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HECTD4_chr12_112155195_112387431	112339310	C C	CAAGAAAA others(354): Show CAAGAAAATGCAAGTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAA GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02055.hp1 HG02071.hp2 others(16): Show HG01943.hp1 HG02055.hp1 HG02071.hp2 HG02129.hp1 HG02257.hp1 HG02486.hp2 HG02523.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp2 NA18960.hp1 NA18971.hp2 NA18981.hp1 NA18982.hp2 NA18989.hp2 NA19056.hp1 NA19065.hp2 NA19068.hp2 NA19084.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0014	a0001c0001 a0002c0004 a0007c0028 others(1): Show a0001c0001 a0002c0004 a0007c0028 a0014c0020	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0002c0004t0003 a0002c0004t0005 a0007c0028t0006 a0014c0020t0003	a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 others(16): Show a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0005g0047 a0001c0001t0006g0260 a0001c0001t0006g0262 a0001c0001t0007g0007 a0001c0001t0007g0025 a0001c0001t0010g0149 a0002c0004t0003g0015 a0002c0004t0003g0039 a0002c0004t0005g0048 a0007c0028t0006g0261 a0014c0020t0003g0009	19	270	0.0704	361	c.178 others(380): Show c.178-19569_178-19568insTTTTTTTTTTTCTTTTTTTTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCGTGACTTGCATTTTCTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112339310	C C	CAAGAAAA others(354): Show CAAGAAAATGCAAGTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAGAAAAAAAA GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0258 a0001c0001t0006g0258	1	270	0.0037	361	c.178 others(380): Show c.178-19569_178-19568insTTTTTTTTTTTCTTTTTTTTCTTTTT TTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCGTGACTTGCATTTTCTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(354): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATATATAATATATATTATATTATATATA ATATATTTTATATAATATATATTATATTATATATAATATATTTTATATAA TATATAATATATATTATATTATATATAATATATTTTATATAATATATAAT ATATATTATATTATATATAATATATTTTATATAATATATAATATATATTA TATTATATATAATATATTTTATATAATATATAATATATATTATATTATAT ATAATATATTTTATATAATATAAATATATATATATATTATATATAATATA TTTTATATTATA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	314	0.0032	361	c.661 others(378): Show c.661+7422_661+7423insTATAATATAAAATATATTATATATAATA TATATATATATTTATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATAAAATATATTATATATAATATAATA TATATTATATATTATATAAAATATATTATATATAATATAATATATATTAT ATATTATATAAAATATATTATATATAATATAAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(354): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATATATAATATATATTATATTATATATA ATATATTTTATATAATATATATTATATTATATATAATATATTTTATATAA TATATAATATATATTATATTATATATAATATATTTTATATAATATATAAT ATATATTATATTATATATAATATATTTTATATAATATATAATATATATTA TATTATATATAATATATTTTATATAATATATAATATATATTATATTATAT ATAATATATTTTATATAATATATAATATATATTATATTATATATAATATA TTTTATATAATA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	314	0.0032	361	c.661 others(378): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATAAAATATATTATATATAATATAATA TATATTATATATTATATAAAATATATTATATATAATATAATATATATTAT ATATTATATAAAATATATTATATATAATATAAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33322366	T T	TATATGGA others(354): Show TATATGGAATATATATATGGAATATATATAGAATATATATATGGAATATA TATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATACATGGAATATATGTATATGGAATATATACAT GGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAATAT ATACATGGAATATATGTATATGGAATATATACATGGAATATATATATGGA ATATATACATGGAATATATATATGGAATATATACATGGAATATATATATA TGGAATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	323	0.0031	361	c.-26 others(372): Show c.-2690_-2689insATATGGAATATATATATGGAATATATATAGAATA TATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATACATGGAATATATGTAT ATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATAT ATGTATATGGAATATATACATGGAATATATGTATATGGAATATATACATG GAATATATATATGGAATATATACATGGAATATATATATGGAATATATACA TGGAATATATATATATGGAATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2603		chr21	TogoVar
IFT81_chr12_110119357_110223793	110137926	T T	TCTCTGGC others(354): Show TCTCTGGCTCTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCACCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	218	0.0046	361	c.781 others(378): Show c.781+1082_781+1083insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCACCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTCTGGCTCTGTTCTT	IFT81	ENSG00000122970.16	transcript	ENST00000242591.10	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
IFTAP_chr11_36589502_36664272	36604230	T T	TAATATTC others(354): Show TAATATTCACAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	358	0.0028	361	c.-23 others(378): Show c.-23-5838_-23-5837insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAATATTCACAGCA	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
JAK1_chr1_64828229_64971549	64881269	T T	TATTAAAA others(354): Show TATTAAAATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0078	1	326	0.0031	361	c.205 others(378): Show c.205+2007_205+2008insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCGATCTCAGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAAAATTTTAAT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	3/24			chr1	TogoVar
KCNJ15_chr21_38251991_38312357	38265170	G G	GCTCTGAA others(354): Show GCTCTGAATGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0069 a0001c0001t0068g0069	1	406	0.0025	361	c.-11 others(380): Show c.-117+8000_-117+8001insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTCTGAATGTGTTTT	KCNJ15	ENSG00000157551.19	transcript	ENST00000398938.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
KDM2B_chr12_121424096_121586023	121514828	C C	CTCCCCAC others(354): Show CTCCCCACACGCCAATCACACTCTCCAATCCCCATCACACTCCCCACCCG CCAATCACACTCTCCAATCCCCATCACACTCCCCACCCCCTCTAATCACA TTCCCCATCCCTCTAATCACACACCCCATCCCCTCTAATCACACTCCCCA CCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCCAATCA CACTACCCACCCCCTCTAATCACACTCCCCACCCCCAATCACACTCCCCA CCCCAATCACACTCCCCATCCCCTCTAATCACACTCCCCACCCCCAATCA CACTCCCCACCCCCAATCACACTCCCCACCCCCTCTAATCACACTCCCCA CCCCCAATCACA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0076	1	270	0.0037	361	c.104 others(380): Show c.1048-1427_1048-1426insTGTGATTGGGGGTGGGGAGTGTGATT AGAGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTGGGGGTGGG GAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGGGGAGTGTGATT GGGGGTGGGGAGTGTGATTAGAGGGGGTGGGTAGTGTGATTGGGGGGTGG GGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATT AGAGGGGATGGGGTGTGTGATTAGAGGGATGGGGAATGTGATTAGAGGGG GTGGGGAGTGTGATGGGGATTGGAGAGTGTGATTGGCGGGTGGGGAGTGT GATGGGGATTGGAGAGTGTGATTGGCGTGTGGGGA	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	9/22			chr12	TogoVar
KIF17_chr1_20659014_20723007	20712867	A A	AATATAGA others(354): Show AATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATAT CTTTATAGATAATATTATCTATACTATAATATAGATAATATTATCTATAT CTATAATATAGATAATATTATCTATATTATAATATAGATAATATTATCTA TATCTATAATATAGATAATATTATCTATATCTATAATATAGATAATATTA TCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAAT ATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGA TAATATTATCTATATTATAGATATTATCTATATATAATATAGATAATATC TATATTATAGAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0033 a0033	a0033c0096 a0033c0096	a0033c0096t0001 a0033c0096t0001	a0033c0096t0001g0031 a0033c0096t0001g0031	1	414	0.0024	361	c.480 others(376): Show c.480+586_480+587insATCTATAATATAGATATTATCTATATTATA TATAGATAATATCTATAATATAGATAATATTATCTATATTATAGATATAG ATAATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGAT ATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATATTAT AGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATA TTATAATATAGATAATATTATCTATATTATAGATATAGATAATATTATCT ATATTATAGTATAGATAATATTATCTATAAAGATATAGATAATATTATCT ATATCTATAATATAGATAATATTATCTATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
LAMC1_chr1_183018420_183150592	183149512	C C	CACACACC others(354): Show CACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACA TCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCACACCACAC AGCTCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCA CACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATC CCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCACA GAGCCCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTC ACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACAC CCCTGTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0285 a0001c0003t0003g0285	1	308	0.0033	361	c.67 others(372): Show c.6722_*6723insACACACCACACAGCTCACACCCCTCTCCTCACAC ACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCT CTCCTCACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTC ACATCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACAC CACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTCT CCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCT CACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACA CCACACAGCTCACACCCCTGTCCTCCT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3921		chr1	TogoVar
LECT2_chr5_135941904_135959983	135954239	C C	CAAAAGTT others(354): Show CAAAAGTTTTATGCCACGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	452	0.0022	361	c.46+ others(374): Show c.46+548_46+549insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCGTGGCATAAAACTTTT	LECT2	ENSG00000145826.9	transcript	ENST00000274507.6	protein_coding	1/3			chr5	TogoVar
LHFPL3_chr7_104323603_104913561	104824161	T T	TATATATA others(354): Show TATATATATATATATATATATATTATATATTATATAATATATAATATATA ATATAATTATATTATATTATATATATATTATATATTATTATATATATATA TATATATAATAATATATATAATATATATATAATATATATATATTATATAT ATATTATATATATAATATATATTATATATAATATATATAATTGTATATAT AATATATAATATATATAATATATAATATATAATATATAATATATAATATA TATAATATATAATATATAATATATAATATATAATATATATAATATATAAT ATATAATATATAATATATAATATATAATATATAATATATAATATATAAAA TATATATATAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	86	0.0116	361	c.683 others(380): Show c.683-82020_683-82019insATATATATATATATATTATATATTAT ATAATATATAATATATAATATAATTATATTATATTATATATATATTATAT ATTATTATATATATATATATATATAATAATATATATAATATATATATAAT ATATATATATTATATATATATTATATATATAATATATATTATATATAATA TATATAATTGTATATATAATATATAATATATATAATATATAATATATAAT ATATAATATATAATATATATAATATATAATATATAATATATAATATATAA TATATATAATATATAATATATAATATATAATATATAATATATAATATATA ATATATAATATATAAAATATATATATAAAATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124471471	A A	ATATTTTA others(354): Show ATATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATAT TTATATATATTTATGTATATTTATATATATATTTATATATATTTATGTAT ATTTATATATATTTATATATTTATGTATATATTTATATATATTTATATAT TTATGTATAAAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp2 HG02615.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0210 a0001c0001t0001g0211	2	260	0.0077	361	c.125 others(378): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATAT ATTTATATATATTTATGTATATTTATATATATTTATATATTTATGTATAT ATTTATATATATTTATATATTTATGTATAAATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088840	G G	GGATCTGT others(354): Show GGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGC AGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGAGGCCA GGATCTGTGCAGGGAGGGTAGGATCTGTGCAGAGTGGCCAGGATCTGTGC AGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCA GGGATCTGTGCAGGGAGGGCAGGGATCTGTGCAGAGCGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGGGAAGGCAGATCTGTGCAGAGTGGCC AGGATCCGTGCAGAGTGGCCAGGATCCGTGCAGAGTGGCCAGGATCCGTG CAGGGAGGCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	102	0.0098	361	c.-46 others(372): Show c.-4622_-4621insATGGCCTCCCTGCACGGATCCTGGCCACTCTGCA CGGATCCTGGCCACTCTGCACGGATCCTGGCCACTCTGCACAGATCTGCC TTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCGCTCTGCAC AGATCCCTGCCCTCCCTGCACAGATCCCTGGCCACTCTGCACAGATCCTG GCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGC ACAGATCCTACCCTCCCTGCACAGATCCTGGCCTCTCTGCACAGATCCTG GCCACTCTGCACAGATCCTGCCCTCCCTGCACAGATCCTGGCCACTCTTC ACAGATCCTGGCCACTCTGCACAGATC	LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding		4443		chr20	TogoVar
LNX1_chr4_53454301_53596486	53478383	T T	TAAGAAAA others(354): Show TAAGAAAAGTGGAACCTGTCATGTCCTTTGTAGGGACATGGATGAAATTG GAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCG CATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACA GGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGG GAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGG TGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAA TGTGCACATGTACCCTAATACTCAGAGTATAATAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03579.hp1 NA21309.hp2 HG03130.hp2 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0107 a0001c0001t0009g0118 a0001c0001t0009g0124 a0001c0001t0009g0107 a0001c0001t0009g0118 a0001c0001t0009g0124	3	356	0.0084	361	c.166 others(378): Show c.1663+181_1663+182insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TATTATACTCTGAGTATTAGGGTACATGTGCACATTGTGCAGGTTAGTTA CATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCAT CTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCC CACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCT CATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTT GTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTC CCTACAAAGGACATGACAGGTTCCACTTTTCTT	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	8/10			chr4	TogoVar
LTO1_chr11_69660563_69680353	69676216	T T	TAAAACAT others(354): Show TAAAACATGAAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	326	0.0031	361	c.-97 others(370): Show c.-978_-977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTGCTTCATGTTTT	LTO1	ENSG00000149716.13	transcript	ENST00000279147.9	protein_coding		864		chr11	TogoVar
MAP3K15_chrX_19355059_19520508	19478090	G G	GGGGGGAG others(354): Show GGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGGGAGAGGGGGGAGG GGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGGGGGG AGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAG GGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGAGGGGGGAGAGGGG GAGGGGGGAGGGGGGGAGGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAG GGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGG GGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGG AGGGGGGAGAGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0141 a0002c0003t0003g0141	1	163	0.0061	361	c.525 others(378): Show c.525+8391_525+8392insTCTCTCCCCCCTCCCCCCCTCCCCCCTC CCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCC CCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCT CTCCCCCCTCCCCCCCCTCCCCCCCTCCCCCCTCCCCCTCTCCCCCCTCC CCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCC CTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCC CCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCC CCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MLPH_chr2_237482251_237560322	237543438	T T	TGGGGGGA others(354): Show TGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACA GTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGAC AGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGG ACAGTGGCGAGTGGGGACAGTGGTGAGTAGGGACAGTGGTGAGTGGGGAC AGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGAC AGTGGTGAGTCG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	286	0.0035	361	c.153 others(378): Show c.1539+783_1539+784insGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGA CAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGA CAGTGGTGAGTGGGGGGACAGTGGCGAGTGGGGACAGTGGTGAGTAGGGA CAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCA CAGTGGTGAGTGGGGACAGTGGTGAGTCGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544349	T T	TGGGGGGA others(354): Show TGGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGG TGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGG TGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAG TGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACGGTAG TGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGT GGTGAGTGGGTGCACGGTAGTGAGTCGGGGGACAGTGGTGAGTGGGGGAA CAGTGGTGAGTG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	286	0.0035	361	c.153 others(380): Show c.1539+1694_1539+1695insGGACAGTGGTGAGTGGGCACAGTAGT GAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTG GTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAG TGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAG TGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAG TGGTGAGTGGGCACGGTAGTGAGTGGGGGCACAGTGGTGAGTGGGGACAG TGGTGAGTTGGGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGTCGGGGG ACAGTGGTGAGTGGGGGAACAGTGGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPI_chr15_74885042_74907219	74898079	A A	AGAGACCA others(354): Show AGAGACCAGGTAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0017 a0001c0001t0045g0017	1	422	0.0024	361	c.36 others(370): Show c.366_*367insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCCCGAGACCAGGTAATTTCT	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	8/8	367	INFO_REALIGN_3_PRIME	chr15	TogoVar
MRPL21_chr11_68886278_68908832	68892196	T T	TGGGGTCA others(354): Show TGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACG CGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGT GGAGGAGAAGTGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAG TGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGG TGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACG CGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGT GGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAG GGGAGCGAGGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01361.hp2 HG02056.hp1 others(2): Show HG00323.hp2 HG01361.hp2 HG02056.hp1 HG03017.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0058 a0001c0001t0001g0014 a0001c0001t0001g0058	5	395	0.0127	361	c.553 others(376): Show c.553+693_553+694insCACCTCGCTCCCCTTCTCCTCCACCCTCCG CGCGTGACCCCACCTCGCTCCCCTTCTCCTCCACCCTCCGCGCGTGACCC CACCTCGCTCCCCTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTC CCCTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTCCCCTTCTCCT CCACCCTCCGCGCGTGACCCCACCTCGCTCCACTTCTCCTCCACCCTCCG CGCGTGACCCCACCTCGCTCCACTTCTCCTCCACCCTCCGCGCGTGACCC CACCTCGCTCCCCTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTC CCCTTCTCCTCCACCCTCCGCGCGTGACCCC	MRPL21	ENSG00000197345.13	transcript	ENST00000362034.7	protein_coding	6/6			chr11	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(354): Show TTGTATATATTATATATAATATATACAATATTGTATATATTATATATAAT ATATACAATATTGTATATATTATATATAATATATACAATATATACATATT ATATATATTATATATAATATATACATATTATATATTATATATAATATATA TACATATTATATATTATATATATAATATATATACATATTATATATTATAT ATAATATATATACATATTATATATTATATATATAATATATATACATATTA TATATTATATATAATATATATACATATTATATATAATATATATACATATT ATATTATATATAATATATATACATATTATATATAATATATAATATATTAC ATATTATATATA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	332	0.0030	361	c.262 others(380): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTGTATATATTATATATAATATATACAATATTGTATATATTATATAT AATATATACAATATATACATATTATATATATTATATATAATATATACATA TTATATATTATATATAATATATATACATATTATATATTATATATATAATA TATATACATATTATATATTATATATAATATATATACATATTATATATTAT ATATATAATATATATACATATTATATATTATATATAATATATATACATAT TATATATAATATATATACATATTATATTATATATAATATATATACATATT ATATATAATATATAATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(354): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAA AAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAA GCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATAT ATATATAAAACCAAAACCAGAAGACCTAATTATATATATATATTTAGGTC CTCTGGTTTTGGTTTTTTTTATATATATATATATATTTAGGTCCTCTGGT TTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0142 a0001c0004t0006g0142	1	312	0.0032	361	c.293 others(380): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATTTAGCTATATTTATATCAGATAAAATGGATTAAAAGTCAAAAA CTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATT CTTCAAGAGCATATAACTACTGTAAATATATATATTATATATATATAAAA CCAAAACCAGAAGACCTAATTATATATATATATTTAGGTCCTCTGGTTTT GGTTTTTTTTATATATATATATATATTTAGGTCCTCTGGTTTTGGTTATA TGTATATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYL2_chr12_110905845_110925579	110905890	A A	AATATATA others(354): Show AATATATAATATATATTATATTATATATAATATATATTATATATAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATATAATATATATTA TATAAAATATATATTATATTATATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTATATAAAATATATATTATATTATATAA TATATATTATATAAAATATATATTATATTATATATAATATATATTTTATA AAATATATATTATATTATATAATATATATTTTATAAAATATATATTATAT TATATATAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	368	0.0027	361	c.51 others(372): Show c.5186_*5187insATATTATATATAATATAATATATATTTTATAAAA TATATATTATATAATATAATATATATTTTATAAAATATATATTATATATA ATATAATATATATTTTATATAATATATATTATATAATATAATATATATTT TATATAATATATATTATATATAATATAATATATATTTTATATAATATATA TTATATATAATATAATATATATTTTATATAATATATATTATATATAATAT AATATATATTTTATATAATATATATTATATATAATATAATATATATTTTA TATAATATATATTATATATAATATAATATATATTATATATAATATATATT ATATATAATATAATATATATTATATAT	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4954		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905910	T T	TTACTATC others(354): Show TTACTATCTATATAATATATATTATATATAATATATATTATATTATATAT AATATATATTATATAAAATATATATTATATTATATATAATATATATTATA TAAAATATATATTATATTATATATAATATATATTATATAAAATATATATT ATATTATATATAATATATATTATATAAAATATATATTATATTATATATAA TATATATTATATAAAATATATATTATATTATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTTTATAAAATATATATTATAT TATATAATATATATTTTATAAAATATATATTATATTATATATAATATATA TTATATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	368	0.0027	361	c.51 others(372): Show c.5166_*5167insTATTTTATATAATATATATTATATATAATATAAT ATATATTTTATAAAATATATATTATATAATATAATATATATTTTATAAAA TATATATTATATATAATATAATATATATTTTATATAATATATATTATATA ATATAATATATATTTTATATAATATATATTATATATAATATAATATATAT TTTATATAATATATATTATATATAATATAATATATATTTTATATAATATA TATTATATATAATATAATATATATTTTATATAATATATATTATATATAAT ATAATATATATTTTATATAATATATATTATATATAATATAATATATATTA TATATAATATATATTATATAGATAGTA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4934		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905919	A A	ATATAATA others(354): Show ATATAATATATATTATATATAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATAATATATATTATA TAAAATATATATTATATTATATAATATATATTTTATAAAATATATATTAT ATTATATAATATATATTTTATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 NA19085.hp1 HG04184.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0001 a0001c0001t0001g0069	2	368	0.0054	361	c.51 others(372): Show c.5157_*5158insATAATATAATATATATTTTATATAATATATATTA TATAATATAATATATATTTTATATAATATATATTATATATAATATAATAT ATATTTTATAAAATATATATTATATAATATAATATATATTTTATAAAATA TATATTATATAATATAATATATATTTTATATAATATATATTATATAATAT AATATATATTTTATATAATATATATTATATATAATATAATATATATTTTA TATAATATATATTATATATAATATAATATATATTTTATATAATATATATT ATATATAATATAATATATATTTTATATAATATATATTATATATAATATAA TATATATTATATATAATATATATTATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4925		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905947	T T	TTATATTA others(354): Show TTATATTATATATAATATATATTATATAAAATATATATTATATTATATAT AATATATATTATATAAAATATATATTATATTATATATAATATATATTATA TAAAATATATATTATATTATATATAATATATATTATATAAAATATATATT ATATTATATATAATATATATTATATAAAATATATATTATATTATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTTTATAAA ATATATATTATATTATATAATATATATTTTATAAAATATATATTATATTA TATATAATATATATTATATAAAATATATATTATATTATATAATATATATT ATATAAAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	368	0.0027	361	c.51 others(372): Show c.5129_*5130insTATATTTTATATAATATATATTATATAATATAAT ATATATTTTATATAATATATATTATATATAATATAATATATATTTTATAA AATATATATTATATAATATAATATATATTTTATAAAATATATATTATATA TAATATAATATATATTTTATATAATATATATTATATAATATAATATATAT TTTATATAATATATATTATATATAATATAATATATATTTTATATAATATA TATTATATATAATATAATATATATTTTATATAATATATATTATATATAAT ATAATATATATTTTATATAATATATATTATATATAATATAATATATATTT TATATAATATATATTATATATAATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4897		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905955	T T	TATATAAT others(354): Show TATATAATATATATTATATAAAATATATATTATATTATATATAATATATA TTATATAAAATATATATTATATTATATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTATATAAAATATATATTATATTATA TATAATATATATTATATAAAATATATATTATATTATATAATATATATTTT ATAAAATATATATTATATTATATAATATATATTTTATAAAATATATATTA TATTATATAATATATATTATATAAAATATATATTATATTATATATAATAT ATATTATATAAAATATATATTATATTATATAATATATATTATATAAAATA TATATTATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	368	0.0027	361	c.51 others(372): Show c.5121_*5122insTAATATAATATATATTTTATATAATATATATTAT ATAATATAATATATATTTTATATAATATATATTATATATAATATAATATA TATTTTATATAATATATATTATATAATATAATATATATTTTATAAAATAT ATATTATATAATATAATATATATTTTATAAAATATATATTATATAATATA ATATATATTTTATATAATATATATTATATATAATATAATATATATTTTAT ATAATATATATTATATATAATATAATATATATTTTATATAATATATATTA TATATAATATAATATATATTTTATATAATATATATTATATATAATATAAT ATATATTTTATATAATATATATTATAT	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4889		chr12	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(354): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGCGGCGGTGGTGGTGGTGGTGATGGTGG TGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTA GTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGGTAATGATGGTGGTGAC CATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGG TGGTAGTGTTCTGGTGGTAGTAGTGTTGGTTGTGGTGGTAGTCGTGGTGG TAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATG GTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	384	0.0026	361	c.160 others(378): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACGACTACCAC CACAACCAACACTACTACCACCAGAACACTACCACCATCACCACCACCAC CACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTA CCACTACCACCACCACCATCACCACCACCACCACTACCACCACCACCACC ACCACCACCACCACTACTGCCACCGCCGCCACCACCACCATCACCACCAC CACCACCGCCGCCACCACCACCATCACCACCACCACCATCGCCGCCACCA CCACCACCACCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYO18B_chr22_25737188_26036045	25792353	T T	TAAGAAGT others(354): Show TAAGAAGTGGATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0036 a0001c0006t0001g0036	1	228	0.0044	361	c.237 others(380): Show c.2377-5586_2377-5585insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGAAGTGGATTGG	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	11/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(354): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCT AGCCTGGCACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 NA18998.hp2 NA19007.hp1 HG02735.hp2 NA18998.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	424	0.0071	361	c.26 others(372): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTG TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTG CCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTG TGTGTGTGTCTGGCTAGCCTGGCACCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(354): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCT AGCCTGGCACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(75): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01081.hp2 HG01109.hp2 HG01261.hp1 HG01943.hp2 HG01952.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02300.hp2 HG02818.hp1 HG03225.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18956.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp1 NA18993.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19056.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0014g0001 a0001c0001t0001g0001 a0001c0001t0014g0001	78	424	0.1840	361	c.26 others(372): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTG TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTG CCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTG TGTGTGTGTCTGGCTAGCCTGGCACCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar

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