Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CAMKK2_chr12_121232692_121301709	121255235	T T	TATATATA others(474): Show TATATATATAATTATATATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTTTATATATATATAATTATATATATAATTATA TATATATAAAATTATATATAAAATTATATATATAATTATATATATATTAT ATATATAATTTTATATATATATTATATATATAATTTTATATATATATTAT ATATATAATTTTATATATATATAATTATATATATATAATTTTATATATAT AATTATATATATAATTATATATATAATTATATATATATAATTATATATAT AATTATATATATAATTTTATATATAATTTTATATATATAATTATATATAT AATTTTATATATATAATTATATATATAATATTATATATAATTATATATAT AATTATATATATATTTTTATATATATAATTATATATATAATTATATATAT AATTTTATATATATATATAATTATATATATAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02004.hp1 others(2): Show HG01515.hp1 HG01517.hp2 HG02004.hp1 HG02735.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0027 a0001c0001 a0002c0002 a0002c0027	a0001c0001t0003 a0002c0002t0003 a0002c0027t0003 a0001c0001t0003 a0002c0002t0003 a0002c0027t0003	a0001c0001t0003g0040 a0002c0002t0003g0001 a0002c0002t0003g0135 others(1): Show a0001c0001t0003g0040 a0002c0002t0003g0001 a0002c0002t0003g0135 a0002c0027t0003g0311	5	278	0.0180	481	c.907 others(496): Show c.907+314_907+315insTTATATATATAATTATATATATATATAAAA TTATATATATAATTATATATATAATTATATATATAAAAATATATATATAA TTATATATATAATTATATATAATATTATATATATAATTATATATATAAAA TTATATATATAATTATATATATAAAATTATATATAAAATTATATATATAA TTATATATATAATTATATATATATAATTATATATATAATTATATATATAA TTATATATATAAAATTATATATATATAATTATATATATATAAAATTATAT ATATAATATATATATAAAATTATATATATAATATATATATAAAATTATAT ATATAATATATATATAATTATATATATAATTTTATATATAATTTTATATA TATATAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATATAATTATATATA T		CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16						chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255235	T T	TATATATA others(474): Show TATATATATAATTATATATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTTTATATATATATAATTATATATATAATTATA TATATATAAAATTATATATAAAATTATATATATAATTTTATATATATTAT ATATATAATTTTATATATATATTATATATATAATTTTATATATATATTAT ATATATAATTTTATATATATATAATTATATATATATAATTTTATATATAT AATTATATATATAATTATATATATAATTATATATATATAATTATATATAT AATTATATATATAATTTTATATATAATTTTATATATATAATTATATATAT AATTTTATATATATAATTATATATATAATATTATATATAATTATATATAT AATTATATATATATTTTTATATATATAATTATATATATAATTATATATAT AATTTTATATATATATATAATTATATATATAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0134 a0002c0002t0001g0134	1	274	0.0036	481	c.907 others(496): Show c.907+314_907+315insTTATATATATAATTATATATATATATAAAA TTATATATATAATTATATATATAATTATATATATAAAAATATATATATAA TTATATATATAATTATATATAATATTATATATATAATTATATATATAAAA TTATATATATAATTATATATATAAAATTATATATAAAATTATATATATAA TTATATATATAATTATATATATATAATTATATATATAATTATATATATAA TTATATATATAAAATTATATATATATAATTATATATATATAAAATTATAT ATATAATATATATATAAAATTATATATATAATATATATATAAAATTATAT ATATAATATATATAAAATTATATATATAATTTTATATATAATTTTATATA TATATAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATATAATTATATATA T		CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16						chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255235	T T	TATATATA others(474): Show TATATATATAATTATATATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTA TATATATAAAATTATATATAAAATTATATATATAATTATATATATATTAT ATATATAATTTTATATATATATTATATATATAATTTTATATATATTATAT ATATAATTTTATATATATATAATTATATATATATAATTTTATATATATAA TTATATATATAATTATATATATAATTATATATATATAATTATATATATAA TTATATATATAATTTTATATATAATTTTATATATATAATTATATATATAA TTTTATATATATATAATTATATATATAATATTATATATAATTATATATAT AATTATATATATATTTTTATATATATAATTATATATATAATTATATATAT AATTTTATATATATATATAATTATATATATAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0026 a0002c0002t0003g0026	1	274	0.0036	481	c.907 others(496): Show c.907+314_907+315insTTATATATATAATTATATATATATATAAAA TTATATATATAATTATATATATAATTATATATATAAAAATATATATATAA TTATATATATAATTATATATAATATTATATATATAATTATATATATATAA AATTATATATATAATTATATATATAAAATTATATATAAAATTATATATAT AATTATATATATAATTATATATATATAATTATATATATAATTATATATAT AATTATATATATAAAATTATATATATATAATTATATATATATAAAATTAT ATATATAATATATATAAAATTATATATATAATATATATATAAAATTATAT ATATAATATATATATAATTATATATATAATTTTATATATAATTTTATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATATAATTATATATA T		CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16						chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255280	A A	ATATATAT others(474): Show ATATATATAATTTTATATATATAATTATATATATAATTATATATATATAA TTATATATATAATTATATATATATAATTATATATTTTTATATATATAATT ATATATATAATTTTATATATATATAATTATATATAATTATATATATATAA TTATATATATTATATATATAATTATATATATATATTATATATATAATTTT ATATATATATAATTATATATATAATTTATATATATAATTATATATATAAA ATTATATATATAATTTTATATATAAAATTATATATATAATTTTATATATA TAATTATATATATAATTTTATATATATATAATTATATATATATAATTTTA TATATATAATTATATATATATAATTTTATATATATAATTATATATATATA ATTTTATATATATATAATTATATATAATTTTATATATATATAATTATATA TATAATTATATATATAATTATATATATAATTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0284 a0002c0002t0013g0284	1	325	0.0031	481	c.907 others(496): Show c.907+269_907+270insAAATTATATATATAATTATATATATAATTA TATATATAATTATATATATATAAAATTATATATAATTATATATATATAAA ATTATATATATATAATTATATATATAAAATTATATATATATAATTATATA TATAAAATTATATATATATAATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTTTATATATAAAATTATATATATA ATTTTATATATATAATTATATATATAAATTATATATATAATTATATATAT ATAAAATTATATATATAATATATATATATAATTATATATATAATATATAT AATTATATATATATAATTATATATAATTATATATATATAAAATTATATAT ATAATTATATATATAAAAATATATAATTATATATATATAATTATATATAT AATTATATATATATAATTATATATATAATTATATATATAAAATTATATAT A		CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16						chr12	TogoVar
CBFA2T3_chr16_88869858_88982207	88961830	G G	GACACTCA others(474): Show GACACTCAGCGCTGGACATTCCCACTGCATAGTAACCGACAGTCAGCGCT GGGCATTCCCACTCCATAGTAACCGACCCTCAGTGCTGGGCATTCCCACT CCATAGTAACCGACACTCAGCGCTGGGCATTCCCACTGCATAGTAACCGA CACTCAGCACTGGGCATTCCCATTCCATAGTAACCGACACTCAGCACTGG GCATTCCCACTCCATAGTAACCAACCCTCAGGGCTGGACATTCCCACTCC ATAGTAACCGACACTCAGCACTGGACATTCCCACTGCATAGTAACCAACA CTCAGCACTGGGCATTCCCATTCCATAGTAACCGACACTCAGCGCTGGGC ATTCCCACTCCATAGTAACCGACACTCAGCGCTGGGCATTCCCACTCCAT AGTAACCGACACTCAGCGCTGGGCATTCCCACTGCATAGTAACCGACACT CAGCGCTGGGCATTCCCACTGCATAGTAACCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG06807.hp2 HG02723.hp2 HG02970.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0014 a0001c0008t0032 a0001c0001t0001 a0001c0008t0014 a0001c0008t0032	a0001c0001t0001g0105 a0001c0008t0014g0166 a0001c0008t0032g0142 a0001c0001t0001g0105 a0001c0008t0014g0166 a0001c0008t0032g0142	3	282	0.0106	481	c.151 others(500): Show c.151+14826_151+14827insTGGTTACTATGCAGTGGGAATGCCCA GCGCTGAGTGTCGGTTACTATGCAGTGGGAATGCCCAGCGCTGAGTGTCG GTTACTATGGAGTGGGAATGCCCAGCGCTGAGTGTCGGTTACTATGGAGT GGGAATGCCCAGCGCTGAGTGTCGGTTACTATGGAATGGGAATGCCCAGT GCTGAGTGTTGGTTACTATGCAGTGGGAATGTCCAGTGCTGAGTGTCGGT TACTATGGAGTGGGAATGTCCAGCCCTGAGGGTTGGTTACTATGGAGTGG GAATGCCCAGTGCTGAGTGTCGGTTACTATGGAATGGGAATGCCCAGTGC TGAGTGTCGGTTACTATGCAGTGGGAATGCCCAGCGCTGAGTGTCGGTTA CTATGGAGTGGGAATGCCCAGCACTGAGGGTCGGTTACTATGGAGTGGGA ATGCCCAGCGCTGACTGTCGGTTACTATGCAGTGGGAATGTCCAGCGCTG AGTGT		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(474): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTCC TTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTCTCTTTCTCTCTTTCTC TCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCCTCT CTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCT TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0247 a0002c0003t0003g0247	1	189	0.0053	481	c.774 others(496): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTTCTTCCTTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTC TCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTC TTTCTCTCTTTCCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCT TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTT CTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T		CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(474): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCCC TCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCT CCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	12	0.0833	481	c.-45 others(502): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCC		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(474): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCC TCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCT TCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCCCCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCC TCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCT TCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTC TCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0015 a0002c0001t0002g0015	1	8	0.1250	481	c.69 others(492): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTC TTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCT TCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCC CTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCTTCCTCCCTTCCTCTTC TTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCT TCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCT CCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC		CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding					4830		chr9	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(474): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATAAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTAT TTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	92	0.0109	481	c.80- others(496): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATAAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTA TTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAAT A		CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(474): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTATATATTAAAATAAATATTTAT TTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	92	0.0109	481	c.80- others(496): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTATATATTAAAATAAATATTTATTTTA TTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAAT A		CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(474): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTAT TTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	92	0.0109	481	c.80- others(496): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTA TTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAAT A		CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(474): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATTAAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTA TTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	92	0.0109	481	c.80- others(496): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATATTTATTTTATATATAAAATAAATATTTATTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTATTTA TTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAAT A		CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(474): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTAT TTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02602.hp1 HG03942.hp2 HG00140.hp1 HG02602.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0195 a0001c0001t0001g0040 a0001c0001t0001g0195	3	94	0.0319	481	c.80- others(496): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTA TTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAAT A		CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(474): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTA TTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	92	0.0109	481	c.80- others(496): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTATTTA TTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAAT A		CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
CIP2A_chr3_108544864_108594438	108575585	T T	TGTATATA others(474): Show TGTATATATACACGTATATATACTCATATACATGTGTATATATACACGTA TATATACTCATATACATGTGTATATATACGTGTATATATACTCATATACA TGTGTATATATACGTGTATATATACTCATATACATGTGTATATATACGTG TATATATACTCATATACATGAGTATATATACGTGTATATATACTCATATA CATGAGTATATATACGTGTATATATACTCATATACATGTGTATATATACG TGTATATATACTCATATACATGTGTATATATACGTGTATATATACTCATA TACATGTGTATATATACGTGTATATATACTGAGTATATATACGTGTATAT ATACTGAGTATATATACGTGTATATATACTGAGTATATATACGTGTATAT ATACTGAGTATATATACGTGTATATATACTGAGTATATATACGTGTATAT ATACTGAGTATATATACGTGTATATATACTGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0148 a0003c0008t0002g0148	1	367	0.0027	481	c.894 others(496): Show c.894+685_894+686insTCAGTATATATACACGTATATATACTCAGT ATATATACACGTATATATACTCAGTATATATACACGTATATATACTCAGT ATATATACACGTATATATACTCAGTATATATACACGTATATATACTCAGT ATATATACACGTATATATACTCAGTATATATACACGTATATATACACATG TATATGAGTATATATACACGTATATATACACATGTATATGAGTATATATA CACGTATATATACACATGTATATGAGTATATATACACGTATATATACTCA TGTATATGAGTATATATACACGTATATATACTCATGTATATGAGTATATA TACACGTATATATACACATGTATATGAGTATATATACACGTATATATACA CATGTATATGAGTATATATACACGTATATATACACATGTATATGAGTATA TATACGTGTATATATACACATGTATATGAGTATATATACGTGTATATATA C		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20						chr3	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(474): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAG GCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAA GGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01109.hp2 HG00544.hp1 HG01109.hp2	a0001 a0001	a0001c0006 a0001c0010 a0001c0006 a0001c0010	a0001c0006t0001 a0001c0010t0001 a0001c0006t0001 a0001c0010t0001	a0001c0006t0001g0027 a0001c0010t0001g0051 a0001c0006t0001g0027 a0001c0010t0001g0051	2	172	0.0116	481	c.85- others(498): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCT TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCC TCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTC CTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTC CCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCT		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(474): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGG GCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAA GGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAA GGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0008 a0008	a0008c0063 a0008c0063	a0008c0063t0003 a0008c0063t0003	a0008c0063t0003g0106 a0008c0063t0003g0106	1	171	0.0058	481	c.85- others(498): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCC CTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTC CCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCT		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
CRTC3_chr15_90524923_90650345	90647272	T T	TCCACAAT others(474): Show TCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACC CCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCC ACACCCCTCCTCCTCAACCCTCCTCCTCACCCCTCCTCCTCCACAATCCT CCTCTTATTCCACACCCCTCCTCCTCCAACCCCTCCTCCAAAGCCCTCCT TCTCCTCCACACCCCTCCAAATTCCACAGCCCTCCTCCACCTCTACACCC ACTGCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCTCAATCCTCC TCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCAATCCTCCT CCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACA ATCCTCCTCCTCACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCT CCACAATCCTCCTCCACACCCCTCCTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0148 a0001c0006t0003g0148	1	143	0.0070	481	c.51 others(492): Show c.5132_*5133insCCACAATCCTCCTCCACACCCCTCCTCCTCCACA ATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCT CCACAATCCTCCTCCACACCCCTCCTCCTCAACCCTCCTCCTCACCCCTC CTCCTCCACAATCCTCCTCTTATTCCACACCCCTCCTCCTCCAACCCCTC CTCCAAAGCCCTCCTTCTCCTCCACACCCCTCCAAATTCCACAGCCCTCC TCCACCTCTACACCCACTGCTCCTCCACAATCCTCCTCCACACCCCTCCT CCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCC CTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACAC CCCTCCTCCTCCACAATCCTCCTCCTCACCCCTCCTCCTCAATCCTCCTC CACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCT		CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding					1928		chr15	TogoVar
DIDO1_chr20_62872743_62931505	62875290	G G	GCACCCCC others(474): Show GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCC CCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCG ACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCC CCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGC ACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCCACCCCCACCCGCA CCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACC CCCACCCGCACCCTCACCCCCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0005 a0006c0008t0005	a0006c0008t0005g0162 a0006c0008t0005g0163 a0006c0008t0005g0162 a0006c0008t0005g0163	2	253	0.0079	481	c.39 others(492): Show c.3942_*3943insGGGGTGGGGGTGGGGGTGAGGGTGCGGGTGGGGG TGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGC GGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGG GTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGT GGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTCG GGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGG GTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGT GCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2452		chr20	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(474): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATTTATATAAATACATTATATTTTATATA TTTATATAAATACATTATATTTTATATATTTATATAAATATATTATATTT TATATAATATATTATATATAATATATATAATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp2 HG02015.hp1 others(5): Show HG00741.hp2 HG01168.hp2 HG02015.hp1 HG02895.hp2 HG03710.hp2 NA18612.hp1 NA18943.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0002c0006t0006	a0001c0001t0002g0213 a0001c0001t0003g0173 a0001c0001t0003g0210 others(5): Show a0001c0001t0002g0213 a0001c0001t0003g0173 a0001c0001t0003g0210 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0004g0152 a0001c0001t0006g0158 a0002c0006t0006g0157	8	212	0.0377	481	c.-53 others(500): Show c.-53-10372_-53-10371insTATTATATATATTATATATAATATAT TATATAAAATATAATATATTTATATAAATATATAAAATATAATGTATTTA TATAAATATATAAAATATAATGTATTTATATAAATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATA		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17						chr18	TogoVar
DZIP3_chr3_108584722_108699840	108633721	C C	CTCTCTCT others(474): Show CTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGA TCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTAC TTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCT CTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATC TATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTT CTGATAGATCTCTCTCTCTCTGGATCTATCAGAATACTTCTGATAGATCT CTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATC TATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTT CTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCT CTCTCTGGATCTATCAGAGTACTTCTGATAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0017 a0001c0004t0015g0017	1	310	0.0032	481	c.816 others(496): Show c.816+658_816+659insGGATCTATCAGAGTACTTCTGATAGATCTC TCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCT ATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTC TGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTC TCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTAT CAGAGTACTTCTGATAGATCTCTCTCTCTCTGGATCTATCAGAATACTTC TGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTC TCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTAT CAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTG ATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTC T		DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	9/32					INFO_REALIGN_3_PRIME	chr3	TogoVar
EIPR1_chr2_3183970_3382818	3315836	C C	CCCCCTAC others(474): Show CCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCA TCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCAT CCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACC CCCTACCACCACCATCACCACCATCCCTATCCACACCCCCTACCACCACC ATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCC CTATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCC CTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCAT CACCACCATCCCCACACACACCCCCTACCACCATCCTCACCACCATCCCC ATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCT ACCACCACCATCACCACCATCCCCATCCACAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	199	0.0050	481	c.259 others(500): Show c.259+22180_259+22181insCTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGT GTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGTGTGGGGATG GTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGG TGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGT GGATAGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGT GGTGATGGTGGTGGTAGGGGGTGTGGATAGGGATGGTGGTGATGGTGGTG GTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGG ATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGG TGAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGT AGGGG		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
EXD3_chr9_137301896_137428162	137355657	G G	GGAGAAAG others(474): Show GGAGAAAGGGAGGATGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGA AGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGA AGGAGGAAGGAGGAAGGGAGGATGGAGGAAGGAGAAAGGGAGGAAGGAGG AAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGAAAGGGAGGAAGGAGG AAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGAAAGGAGGAAGGAGGA AGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGAAAGGAGGA AGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGG AGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp2 HG01993.hp1 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0056 a0002c0002t0001g0045 a0002c0002t0001g0056	2	77	0.0260	481	c.757 others(496): Show c.757+610_757+611insTTCTCCTTCCTCCTTCCTCCTTCCTCCTTC CTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTC CTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTC CTTCCTCCTTTCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCC CTTCCTCCTTCCTCCTTTCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCC TTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCC TTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCCTTTCT C		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21						chr9	TogoVar
F13A1_chr6_6139084_6325662	6262021	G G	GTGACCCT others(474): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01175.hp1 others(14): Show HG00140.hp2 HG00642.hp1 HG01175.hp1 HG01255.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG03492.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 NA18942.hp1 NA18993.hp1 NA19007.hp2 NA19064.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0015	a0001c0001 a0002c0002 a0002c0013 others(4): Show a0001c0001 a0002c0002 a0002c0013 a0003c0003 a0004c0004 a0007c0007 a0015c0020	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0013t0002 a0003c0003t0005 a0004c0004t0003 a0007c0007t0002 a0015c0020t0001	a0001c0001t0001g0015 a0001c0001t0001g0039 a0001c0001t0001g0040 others(14): Show a0001c0001t0001g0015 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0064 a0001c0001t0001g0198 a0001c0001t0002g0028 a0001c0001t0002g0104 a0002c0002t0001g0022 a0002c0002t0001g0038 a0002c0002t0001g0109 a0002c0002t0001g0197 a0002c0013t0002g0242 a0003c0003t0005g0058 a0004c0004t0003g0186 a0007c0007t0002g0155 a0007c0007t0002g0162 a0015c0020t0001g0128	17	258	0.0659	481	c.571 others(498): Show c.571+4536_571+4537insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCA		F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14						chr6	TogoVar
FHIT_chr3_59742277_61256452	59986774	A A	ATATATTT others(474): Show ATATATTTATATAAATATATAAATAATTTATATATTTATATAAATATATT TATATAAATGTATAAATATATTTATATAAATGTATAAATATATTTATATA AATGTATAAATATATTTATATAAATGTATAAATATATTTATATAAATGTA TAAATATATTTATATAAATGTATAAATATATTTATATAAATATATAAATA TAAATATATAAATATAAATATATAAATATAAATATATAAATATAAATATA TTTATATAAATATATAAATATATTAATATAAATATATTTATATAAATATA TTAATATAAATATATTTATATAAATATATAAATATATAAATATAAATATA TTTATATAAATATATAAATATATAATATAAATATATTTATATTATATATT TATATAAATATATAATATAAATATATTTATATTATATATTTATATAAATA TGTTTATATAAATATATAAATATAAATATATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	32	0.0313	481	c.279 others(500): Show c.279+24596_279+24597insAATATATTTATATTTATATATTTATA TAAACATATTTATATAAATATATAATATAAATATATTTATATTATATATT TATATAAATATATAATATAAATATATTTATATTATATATTTATATATTTA TATAAATATATTTATATTTATATATTTATATATTTATATAAATATATTTA TATTAATATATTTATATAAATATATTTATATTAATATATTTATATATTTA TATAAATATATTTATATTTATATATTTATATTTATATATTTATATTTATA TATTTATATTTATATATTTATATAAATATATTTATACATTTATATAAATA TATTTATACATTTATATAAATATATTTATACATTTATATAAATATATTTA TACATTTATATAAATATATTTATACATTTATATAAATATATTTATACATT TATATAAATATATTTATATAAATATATAAATTATTTATATATTTATATAA ATATA		FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9						chr3	TogoVar
GAK_chr4_844277_937316	927060	C C	CCGCACCC others(474): Show CCGCACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCGCAACCCTCCC CGCTCACCTGCGCTCCGCACTGCCCGGCAACCCTCCCGGCTCACCTGCGG TCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCC GCACCCCTCCCGGCTCACCTGCGGTCCCCACTGCCTCGCACCCCTCCCCG CTCACCTGCAGTCCCCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTC CGCACTGCCCCGCACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGC ACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCGCAACCCTCCCCGCT CACCTGCGCTCCGCACTGCCCGGCAACCCTCCCGGCTCACCTGCGGTCCG CACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCAC CCCTCCCGGCTCACCTGCGGTCCCCACTGCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0015 a0001c0012t0001g0015	1	207	0.0048	481	c.145 others(498): Show c.145+4982_145+4983insAGGCAGTGGGGACCGCAGGTGAGCCGGG AGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGC AGTGCGGACCGCAGGTGAGCCGGGAGGGTTGCCGGGCAGTGCGGAGCGCA GGTGAGCGGGGAGGGTTGCGGGGCAGTGCGGAGCGCAGGTGAGCTGGGAG GGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGCGGGGCAG TGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGGGGACTGCAGG TGAGCGGGGAGGGGTGCGAGGCAGTGGGGACCGCAGGTGAGCCGGGAGGG GTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTG CGGACCGCAGGTGAGCCGGGAGGGTTGCCGGGCAGTGCGGAGCGCAGGTG AGCGGGGAGGGTTGCGGGGCAGTGCGGAGCGCAGGTGAGCTGGGAGGGGT GCG		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27						chr4	TogoVar
GAK_chr4_844277_937316	927060	C C	CCGCACCC others(474): Show CCGCACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCGCAACCCTCCC CGCTCACCTGCGCTCCGCACTGCCCGGCAACCCTCCCGGCTCACCTGCGG TCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCC GCACCCCTCCCGGCTCACCTGCGGTCCCCACTGCCTCGCACCCCTCCCCG CTCACCTGCAGTCCCCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTC CGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGCTCCGCACTGCCCCGC ACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCGCAACCCTCCCCGCT CACCTGCGCTCCGCACTGCCCGGCAACCCTCCCGGCTCACCTGCGGTCCG CACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCAC CCCTCCCGGCTCACCTGCGGTCCCCACTGCCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03490.hp1 HG03490.hp2 others(1): Show HG02004.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0003 a0001c0012 a0002c0003	a0001c0012t0001 a0002c0003t0001 a0001c0012t0001 a0002c0003t0001	a0001c0012t0001g0009 a0001c0012t0001g0010 a0001c0012t0001g0012 others(1): Show a0001c0012t0001g0009 a0001c0012t0001g0010 a0001c0012t0001g0012 a0002c0003t0001g0011	4	210	0.0190	481	c.145 others(498): Show c.145+4982_145+4983insAGGCAGTGGGGACCGCAGGTGAGCCGGG AGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGC AGTGCGGACCGCAGGTGAGCCGGGAGGGTTGCCGGGCAGTGCGGAGCGCA GGTGAGCGGGGAGGGTTGCGGGGCAGTGCGGAGCGCAGGTGAGCTGGGAG GGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCCGGGAGGGGTGCGGGGCAG TGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGGGGACTGCAGG TGAGCGGGGAGGGGTGCGAGGCAGTGGGGACCGCAGGTGAGCCGGGAGGG GTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTG CGGACCGCAGGTGAGCCGGGAGGGTTGCCGGGCAGTGCGGAGCGCAGGTG AGCGGGGAGGGTTGCGGGGCAGTGCGGAGCGCAGGTGAGCTGGGAGGGGT GCG		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27						chr4	TogoVar
GAK_chr4_844277_937316	927089	G G	GCACTGCC others(474): Show GCACTGCCCCGCACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCA CCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTC ACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCGCTCCGC ACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACC CCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCAC CTGCGCTCCGCACTGCCCCGCACCCCTCCCAGCTCACCTGCGCTCCGCAC TGCCCCGCACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCC TCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCT GCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCCCACTG CCTCGCACCCCTCCCCGCTCACCTGCAGTCCC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0063 a0001c0004t0001g0063	1	166	0.0060	481	c.145 others(498): Show c.145+4953_145+4954insGGGACTGCAGGTGAGCGGGGAGGGGTGC GAGGCAGTGGGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGA CCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCC GGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGCGG GGCAGTGCGGAGCGCAGGTGAGCTGGGAGGGGTGCGGGGCAGTGCGGAGC GCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGG GAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGG CAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGC AGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGA GGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGCGGGGCA GTG		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27						chr4	TogoVar
GAS6_chr13_113815549_113869076	113824415	C C	CGCGCGGT others(474): Show CGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTG AGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCG CGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGAGGTCTGGGGTCTGAGCT GTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGAGGT CTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCG GGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGG GGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTTCTGAGCTGTCGGGA GCACCTATGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCAGTCTGGGGT CTGAGCTGTCGGGAGCACGCGGGGTCTGGGGTCTGAGCTGTCGGGAGCAC CTGCGGTCTGGGGTCTGAGCTGTCGGGAGCAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0055 a0001c0004t0001g0055	1	79	0.0127	481	c.147 others(498): Show c.1478-866_1478-865insATGCTCCCGACAGCTCAGACCCCAGACC GCAGGTGCTCCCGACAGCTCAGACCCCAGACCCCGCGTGCTCCCGACAGC TCAGACCCCAGACTGCGCGTGCTCCCGACAGCTCAGACCCCAGACCATAG GTGCTCCCGACAGCTCAGAACCCCAGACCGCGGGTGCTCCCGACAGCTCA GACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTG CTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACC CCAGACCTCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCC CGACAGCTCAGACCCCAGACCTCGCGTGCTCCCGACAGCTCAGACCCCAG ACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGAC AGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCG CGC		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14						chr13	TogoVar
GJA9_chr1_38869069_38886587	38870012	C C	CAAAAAAA others(474): Show CAAAAAAAATTAGCCGGGGGTCTCCGGTCCGTGCCTCCAAGATGACAAAG AAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCC TATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTA AGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATT TCTGAAGCGAGCGTCTTCGATGCCTATGTGCTTCCCAAGCTGTATGTGAA GCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATC GATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCT GCGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTT CTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAATT GTACTTAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA19079.hp1 NA18944.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	2	434	0.0046	481	c.45 others(492): Show c.4538_*4539insTTTTTTTTTTTTTTTTTTTTTTTTTTAAGTACAA TTTCCATTTTATTTTTCTCCAGAGAATAGCCTGTCTTCAGTCTTTAAGAA CTCAGCTCCTTACATGGGCTTTGGTGGGGGACGTGGGGCAGCACCCGCAG GTCTAAATCGGGGTGGGGGTGTTCGGTCCTTGCGGGCTTCACGAGATCGA TTCCTGACTACTTTGCTGTGAATTGCACAACTCACACAGTAATGTAGCTT CACATACAGCTTGGGAAGCACATAGGCATCGAAGACGCTCGCTTCAGAAA TGTCCCTGACTGCTGCGGCCTCCACTATGTTTCGAATGACGAATTTCTTA ATGGCCTTGTCCTTGGGCACGCATCGGGCACAGTTAGTGCAGCGAATAGG CTGCACGTGGCCGCGGCCCTTTTTGGCACGACCATTGTTCCTTCTTTTCT TTGTCATCTTGGAGGCACGGACCGGAGACCCCCGGCTAATTTTTTTT		GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding					4056		chr1	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAA others(474): Show ATATATAAATATATATATTTATATTTATTTTTATATATATAAATATATAT ATTTATATATATATAAATAAATATAAATATATATATTTATATGTATATAT ATAAATATATATATTTGTATATATATAAATATATATATTTATATATATAT ATTTTATACATATAAATATATATTATAAATATATATTTATACATATAAAT ATATATTATAAATATATATATTTATATTTATTTATATATATAAATATATA TATTTATATATATAAATATATATATTTATATATATAAATATATATATTTA TATTTATTTATATATATATAAATATATATTTATATATAAATATATATATT TATATTTATTTCTATATATAAATATATATATTTATATATATAAATATATA TTTATATATATAAATATATATATTTATATTTATAAATATATATATTTATA TATATTTATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0090 a0001c0003t0014g0090	1	133	0.0075	481	c.-97 others(498): Show c.-97-2616_-97-2615insAATATATATATTTATATTTATTTTTATA TATATAAATATATATATTTATATATATATAAATAAATATAAATATATATA TTTATATGTATATATATAAATATATATATTTGTATATATATAAATATATA TATTTATATATATATATTTTATACATATAAATATATATTATAAATATATA TTTATACATATAAATATATATTATAAATATATATATTTATATTTATTTAT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATTTATATTTATTTATATATATATAAATATATATTTATAT ATAAATATATATATTTATATTTATTTCTATATATAAATATATATATTTAT ATATATAAATATATATTTATATATATAAATATATATATTTATATTTATAA ATATATATATTTATATATATTTATATTTATATATATTTATATATATTTAT ATA		GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(474): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATAAATAAATATAAATATATATATTTATATGTATATAT ATAAATATATATATTTGTATATATATAAATATATATATTTATATATATAT ATTTTATACATATAAATATATATTATAAATATATATTTATACATATAAAT ATATATTATAAATATATATATTTATATTTATTTATATATATAAATATATA TATTTATATATATAAATATATATATTTATATATATAAATATATATATTTA TATTTATTTATATATATATAAATATATATTTATATATAAATATATATATT TATATTTATTTCTATATATAAATATATATATTTATATATATAAATATATA TTTATATATATAAATATATATATTTATATTTATAAATATATATATTTATA TATATTTATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03017.hp1 HG02683.hp2 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0036 a0001c0003t0011g0037 a0001c0003t0011g0036 a0001c0003t0011g0037	2	134	0.0149	481	c.-97 others(498): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATAAATAAATATAAATATATATATTTATATGTAT ATATATAAATATATATATTTGTATATATATAAATATATATATTTATATAT ATATATTTTATACATATAAATATATATTATAAATATATATTTATACATAT AAATATATATTATAAATATATATATTTATATTTATTTATATATATAAATA TATATATTTATATATATAAATATATATATTTATATATATAAATATATATA TTTATATTTATTTATATATATATAAATATATATTTATATATAAATATATA TATTTATATTTATTTCTATATATAAATATATATATTTATATATATAAATA TATATTTATATATATAAATATATATATTTATATTTATAAATATATATATT TATATATATTTATATTTATATATATTTATATATATTTATATATAAATATA TAT		GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(474): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATTTATATATATATAAATAAATATAAATATATATATTTATATGTATATAT ATAAATATATATATTTGTATATATATAAATATATATATTTATATATATAT ATTTTATACATATAAATATATATTATAAATATATATTTATACATATAAAT ATATATTATAAATATATATATTTATATTTATTTATATATATAAATATATA TATTTATATATATAAATATATATATTTATATATATAAATATATATATTTA TATTTATTTATATATATATAAATATATATTTATATATAAATATATATATT TATATTTATTTCTATATATAAATATATATATTTATATATATAAATATATA TTTATATATATAAATATATATATTTATATTTATAAATATATATATTTATA TATATTTATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0128 a0001c0003t0022g0128	1	133	0.0075	481	c.-97 others(498): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATTTATATATATATAAATAAATATAAATATATATATTTATATGTAT ATATATAAATATATATATTTGTATATATATAAATATATATATTTATATAT ATATATTTTATACATATAAATATATATTATAAATATATATTTATACATAT AAATATATATTATAAATATATATATTTATATTTATTTATATATATAAATA TATATATTTATATATATAAATATATATATTTATATATATAAATATATATA TTTATATTTATTTATATATATATAAATATATATTTATATATAAATATATA TATTTATATTTATTTCTATATATAAATATATATATTTATATATATAAATA TATATTTATATATATAAATATATATATTTATATTTATAAATATATATATT TATATATATTTATATTTATATATATTTATATATATTTATATATAAATATA TAT		GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chrX	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(474): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 NA18953.hp1 HG02258.hp1 NA18953.hp1	a0005 a0017 a0005 a0017	a0005c0005 a0017c0023 a0005c0005 a0017c0023	a0005c0005t0002 a0017c0023t0002 a0005c0005t0002 a0017c0023t0002	a0005c0005t0002g0041 a0017c0023t0002g0190 a0005c0005t0002g0041 a0017c0023t0002g0190	2	135	0.0148	481	c.-28 others(492): Show c.-2852_-2851insAGTAACTATATTAATATAGTTAGTATATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA		GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding					2351		chr4	TogoVar
IDE_chr10_92446684_92579093	92524517	A A	ATATATTA others(474): Show ATATATTATATTATATATAATATATTTTATATAATATATATTATATTATA TATAATATATATTATATTATATATAATATATTTTATATTATATATAATAT ATATTATATTATATATAATATATTTTATATAATATATAATATATATTATA TTATATATAATATATTTTATATAATATATAATATATATTATATTATATAT AATATATTTTATATAATATATAATATATATTATATTATATATAATATATT TTATATAATATATAATATATATTATATTATATATAATATATTTTATATAA TATATAATATATATTATATTATATATAATATATTTTATATAATATATAAT ATATATTATATTATATATAATATATTTTATATAATATATAATATATATTA TATTATATATAATATATTTTATATAATATATAATATATATTATATTATAT ATAATATATTTTATATTATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03139.hp1 HG03225.hp2 HG02965.hp2 HG03139.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202	3	176	0.0170	481	c.661 others(498): Show c.661+7230_661+7231insATATATATTATATATAATATAAAATATA TTATATATAATATAATATATATTATATATTATATAAAATATATTATATAT AATATAATATATATTATATATTATATAAAATATATTATATATAATATAAT ATATATTATATATTATATAAAATATATTATATATAATATAATATATATTA TATATTATATAAAATATATTATATATAATATAATATATATTATATATTAT ATAAAATATATTATATATAATATAATATATATTATATATTATATAAAATA TATTATATATAATATAATATATATTATATATTATATAAAATATATTATAT ATAATATAATATATATTATATATTATATAAAATATATTATATATAATATA ATATATATTATATATAATATAAAATATATTATATATAATATAATATATAT TATATATAATATAATATATATTATATAAAATATATTATATATAATATAAT ATA		IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24						chr10	TogoVar
INS_chr11_2154779_2166209	2161578	A A	AGACCCCT others(474): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCA GACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTA TCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCACACCCCCTGTCCCCACACCCTGTCCCCGGG ACCCCTGTCCCCACACCCCTGTCCCACACCCCTGTCCCCAGACCCCTGTC CCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCGGGGACCCCTGTCCCCACACCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	204	0.0049	481	c.-42 others(490): Show c.-429_-428insCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGTGTGGGGACAGGGGTCCCCGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGACA GGGGTCTGGGGACAGGGGTGTGGGACAGGGGTGTGGGGACAGGGGTCCCG GGGACAGGGTGTGGGGACAGGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGG GGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGATAGG GGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGG GATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTC		INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding					370		chr11	TogoVar
KHSRP_chr19_6408102_6429811	6429415	G G	GAGGAGGA others(474): Show GAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGGAGGAGGGACAAAAGAG GAGAAGGAGGAGGAGAGGGGAGGAGGAGGAAGTGGAGGGGTGGAGGAGAG TGGAGAAGGGAGGAGGGAAGGGAGTGGGAGAGAGGAGAAGGTGGGGGGAG GGAGGAGGGAGAAAGGAAGGGGAGGAGGAGGGAAAGGAGGGGGAGGAGGA GAGAAGAGGGGGAGGAGGAGGTGAGGGGAGGTGGGAGTGGATGGAGGTGG AGGTGAGGGGAGGAGGAGAGAGGAGGGGAGGAGGAGGAGAGAGGAGGGGG AGGTGGAGGAGAGAGGAGGGGAGGAGGAGAGATGTGGGGAGGGTGTATGG TTGGTTGTTGGGTGGTGTGTGTGTTGGTGGGGTGGAGGAAGGTTGGTGAG GAGGAGTGGTAGGTTCGTGGAGGATGGAGGGAGAAGGAGGAGGGGAGGTG GTGAGGTGTTTGGTTGTGGGGGTGAGTGGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	384	0.0026	481	c.-47 others(492): Show c.-4715_-4714insACACCACTCACCCCCACAACCAAACACCTCACCA CCTCCCCTCCTCCTTCTCCCTCCATCCTCCACGAACCTACCACTCCTCCT CACCAACCTTCCTCCACCCCACCAACACACACACCACCCAACAACCAACC ATACACCCTCCCCACATCTCTCCTCCTCCCCTCCTCTCTCCTCCACCTCC CCCTCCTCTCTCCTCCTCCTCCCCTCCTCTCTCCTCCTCCCCTCACCTCC ACCTCCATCCACTCCCACCTCCCCTCACCTCCTCCTCCCCCTCTTCTCTC CTCCTCCCCCTCCTTTCCCTCCTCCTCCCCTTCCTTTCTCCCTCCTCCCT CCCCCCACCTTCTCCTCTCTCCCACTCCCTTCCCTCCTCCCTTCTCCACT CTCCTCCACCCCTCCACTTCCTCCTCCTCCCCTCTCCTCCTCCTTCTCCT CTTTTGTCCCTCCTCCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCT		KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding					4605		chr19	TogoVar
LHPP_chr10_124456823_124619141	124471609	A A	ATTTATAT others(474): Show ATTTATATATAGTTATATATATTTATGTATAGTTATATATAGTTATGTAT AGTTATATATAGTTATATATATAGTTATATATAGTTATATATATAGTTAT ATATATATTTTTATATATATTTATATTTATATATATATTTTTATATATAT ATTTATATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATATTTATATATATAAATATATATATAAATATATATATTTATAT ATATATTTATATATATATTTATATATTTATATATGTATTTATATATATTT ATATATGTATTTATATATATTTATATATATTTATATGTATTTATATATAT TTATATATATTTATATATATAAATATAAATATATTTATATATATAAATAT AAATATATTTATATATATAAATATAAATATATTTATATATAAATATATTT ATATATATTTATATAAATATATTTATGTATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp1 HG01071.hp1 others(6): Show HG00140.hp1 HG01070.hp1 HG01071.hp1 HG01167.hp1 HG01515.hp1 HG01517.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0015 a0001c0001t0001g0052 a0001c0001t0001g0053 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0004g0027	9	144	0.0625	481	c.125 others(498): Show c.125+9624_125+9625insTATATATAGTTATATATATTTATGTATA GTTATATATAGTTATGTATAGTTATATATAGTTATATATATAGTTATATA TAGTTATATATATAGTTATATATATATTTTTATATATATTTATATTTATA TATATATTTTTATATATATATTTATATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATAAATATATATA TAAATATATATATTTATATATATATTTATATATATATTTATATATTTATA TATGTATTTATATATATTTATATATGTATTTATATATATTTATATATATT TATATGTATTTATATATATTTATATATATTTATATATATAAATATAAATA TATTTATATATATAAATATAAATATATTTATATATATAAATATAAATATA TTTATATATAAATATATTTATATATATTTATATAAATATATTTATGTATA TTT		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC37A3_chr17_64849130_64924478	64912240	T T	TATGTAGA others(474): Show TATGTAGATATACATCTACATACATACACAATGTATGCATGTAGATATAC ATCTACATACATACACAATGTATGCATGTAGATATACATCTACATACATA CACAATGTATGCATGTAGATATACATCTACATACATACACAATGTATGCA TGTAGATATACATCTACATACATACACAATGTATGCATGTAGATATACAT CTACATACATACACAATGTATGCATGTAGATATACATCTACATACATACA CAATGTATGCATGTAGATATACATCTACATACATACACAATGTATGCATG TAGATATACATCTACATACATACACAATGTATGCATGTAGATATACATCT ACATACATACACAATGTATGCATGTAGATATACATCTACATACATACACA ATGTATGCATGTAGATATACATCTACATACATACACAATGTATGCATGTA GATATACATCTACATACATACACAATGTATGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0003 a0011c0011t0003	a0011c0011t0003g0132 a0011c0011t0003g0132	1	37	0.0270	481	c.-49 others(500): Show c.-496+6509_-496+6510insGCATACATTGTGTATGTATGTAGATG TATATCTACATGCATACATTGTGTATGTATGTAGATGTATATCTACATGC ATACATTGTGTATGTATGTAGATGTATATCTACATGCATACATTGTGTAT GTATGTAGATGTATATCTACATGCATACATTGTGTATGTATGTAGATGTA TATCTACATGCATACATTGTGTATGTATGTAGATGTATATCTACATGCAT ACATTGTGTATGTATGTAGATGTATATCTACATGCATACATTGTGTATGT ATGTAGATGTATATCTACATGCATACATTGTGTATGTATGTAGATGTATA TCTACATGCATACATTGTGTATGTATGTAGATGTATATCTACATGCATAC ATTGTGTATGTATGTAGATGTATATCTACATGCATACATTGTGTATGTAT GTAGATGTATATCTACATGCATACATTGTGTATGTATGTAGATGTATATC TACAT		LRRC37A3	ENSG00000176809.11	transcript	ENST00000584306.6	protein_coding	2/14						chr17	TogoVar
LUC7L_chr16_183990_234449	187020	G G	GGGAACAG others(474): Show GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGAGGGAGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGAGGGAGGAACAGCGACATGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGAGGGAGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	311	0.0032	481	c.21 others(492): Show c.2177_*2178insTCCCTCCCGTGTCGCTGTTCCTCCCTCCCGTGTC GCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCATGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTT CCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCTCCCTCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCC CCCGTGTCGCTGTTCCCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					1969		chr16	TogoVar
MBD3L3_chr19_7051207_7063676	7061827	G G	GAATATAA others(474): Show GAATATAATTATATAATATATAATTATATTATATATTATATAATTATAAT ATAATATATAATATAATTATATTATATATAATTATATTAAACATATTATA TAATATATAATTATATTATATATTATATAATCTATAATTATATTATATAT TATATAATCTATAATTATATTATATATTATATAATATATAATTATATTAT ATATTATATAATATATAATTATATTATATATTATAATACATTTAATATAA TTATATTATAGATTATAATCTATAATATAATTATATTAATAGTATTATAA TATATAATATATTATATATAATTATATTATAACTTATTATATATAATTAT ATTATAGATCATAATCTATAATATAATTATATATAATATGTTATAATATA TAATTATATTCTATATATAATTATATATAATATAATTATATTCTATATAT AATATAATTATATATAATTATATTCTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	239	0.0042	481	c.-32 others(492): Show c.-3223_-3222insATATATAGAATATAATTATATATAATTATATTAT ATATAGAATATAATTATATTATATATAATTATATATAGAATATAATTATA TATTATAACATATTATATATAATTATATTATAGATTATGATCTATAATAT AATTATATATAATAAGTTATAATATAATTATATATAATATATTATATATT ATAATACTATTAATATAATTATATTATAGATTATAATCTATAATATAATT ATATTAAATGTATTATAATATATAATATAATTATATATTATATAATATAT AATATAATTATATATTATATAATATATAATATAATTATAGATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATATATTATA TAATATGTTTAATATAATTATATATAATATAATTATATTATATATTATAT TATAATTATATAATATATAATATAATTATATATTATATAATTATATT		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					3152		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061828	A A	AATATAAT others(474): Show AATATAATTATATAATATATAATTATATTATATATTATATAATTATAATA TAATATATAATATAATTATATTATATATAATTATATTAAACATATTATAT AATATATAATTATATTATATATTATATAATATATAATTATATTATATATT ATATAATCTATAATTATATTATATATTATATAATCTATAATTATATTATA TATTATATAATATATAATTATATTATATATTATAATACATTTAATATAAT TATATTATAGATTATAATCTATAATATAATTATATTAATAGTATTATAAT ATATAATATATTATATATAATTATATTATAACTTATTATATATAATTATA TTATAGATCATAATCTATAATATAATTATATATAATATGTTATAATATAT AATTATATTCTATATATAATTATATATAATATAATTATATTCTATATATA ATATAATTATATATAATTATATTCTATATAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	481	c.-32 others(492): Show c.-3224_-3223insGCTATATAGAATATAATTATATATAATTATATTA TATATAGAATATAATTATATTATATATAATTATATATAGAATATAATTAT ATATTATAACATATTATATATAATTATATTATAGATTATGATCTATAATA TAATTATATATAATAAGTTATAATATAATTATATATAATATATTATATAT TATAATACTATTAATATAATTATATTATAGATTATAATCTATAATATAAT TATATTAAATGTATTATAATATATAATATAATTATATATTATATAATATA TAATATAATTATAGATTATATAATATATAATATAATTATAGATTATATAA TATATAATATAATTATATATTATATAATATATAATATAATTATATATTAT ATAATATGTTTAATATAATTATATATAATATAATTATATTATATATTATA TTATAATTATATAATATATAATATAATTATATATTATATAATTATAT		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					3153		chr19	TogoVar
MSH4_chr1_75791882_75918242	75906498	T T	TATATATA others(474): Show TATATATACAATATTATATATATTATATATAATATTATATATATTATATA TAATATATATACAATATTATATATATTATATATATATTATATATATTATA TATAATATATATACAATATTATATATATTATATATAATATATATACAATA TTATATATATTATATATATATACATATATATGTATATATACATATATAAT ATGTATATATGTATATATATATGTATAATATATATATTGTATATATATAT TATACATATGTATATATATATTATACATATATATGTATAATATATATAAT GTATATATATATACATATTATATATTATATATAATATATACATATATATT ATATATAATATATACATATTATATATTATATATATAATATATATACATAT TATATTATATATAATATATATACATATTACATATATTATATATAATATAT ATACATATATAATATATTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0136 a0002c0003t0001g0136	1	201	0.0050	481	c.262 others(500): Show c.2620-6191_2620-6190insCAATATTATATATATTATATATAATA TTATATATATTATATATAATATATATACAATATTATATATATTATATATA TATTATATATATTATATATAATATATATACAATATTATATATATTATATA TAATATATATACAATATTATATATATTATATATATATACATATATATGTA TATATACATATATAATATGTATATATGTATATATATATGTATAATATATA TATTGTATATATATATTATACATATGTATATATATATTATACATATATAT GTATAATATATATAATGTATATATATATACATATTATATATTATATATAA TATATACATATATATTATATATAATATATACATATTATATATTATATATA TAATATATATACATATTATATTATATATAATATATATACATATTACATAT ATTATATATAATATATATACATATATAATATATTATATATTATATATAAT ATATA		MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(474): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGTGCGTGGAG GAGGGGCGTGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGG AGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGG CGTGGAGGAGGGGCGTGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAG GGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGA GGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGC GCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGG GGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGG GGGGGTGTGGAGGGGGGTGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGG GGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	218	0.0046	481	c.159 others(498): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGTGCGTGGAGGAG GGGCGTGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGC GTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGT GGAGGAGGGGCGTGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGG GGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGA GGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCG TGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGG CCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGG GGTGTGGAGGGGGGTGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGG GCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGG AGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MUC4_chr3_195741771_195816929	195788132	T T	TGTCACCT others(474): Show TGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGCGGTGGCC TGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTG ACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCAC CTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCT GTGGATGCTGAGGAAGTGTCGGTGACAGGAAGCGGGGTGGCGTGACCGGT GGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGTTGGCGTGACCTGTGG ATGCTGAGGAAGTGTCGGTGACAGGAAGCGGGGTGGCGTGACCGGTGGAT GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATAT TGAGGAAGTGTCGGTGACAGGAAGAGGGGGTGGCGTGACCTATGGATGCT GAGGAAGTGTCGGTGACAGGAAGAAGGGTGGC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18977.hp2 NA18977.hp2	a0109 a0109	a0109c0030 a0109c0030	a0109c0030t0001 a0109c0030t0001	a0109c0030t0001g0107 a0109c0030t0001g0107	1	126	0.0079	481	c.344 others(490): Show c.3447_3448insGCCACCCTTCTTCCTGTCACCGACACTTCCTCAGCA TCCATAGGTCACGCCACCCCCTCTTCCTGTCACCGACACTTCCTCAATAT CCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCC ACCGGTCACGCCACCCCGCTTCCTGTCACCGACACTTCCTCAGCATCCAC AGGTCACGCCAACCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCG GTCACGCCACCCCGCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGT CACGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCCACAGGTGA CACCACGCCTCTTCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTCACA CCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCAGGCC ACCGCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGTGAC	p.Thr others(6): Show p.Thr1150fs	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3559/16756	3447/16239	1149/5412			chr3	TogoVar
MYCBP_chr1_38857493_38878348	38870012	C C	CAAAAAAA others(474): Show CAAAAAAAATTAGCCGGGGGTCTCCGGTCCGTGCCTCCAAGATGACAAAG AAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCC TATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTA AGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATT TCTGAAGCGAGCGTCTTCGATGCCTATGTGCTTCCCAAGCTGTATGTGAA GCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATC GATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCT GCGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTT CTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAATT GTACTTAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19079.hp1 NA18944.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0187 a0001c0001t0003g0188	2	418	0.0048	481	c.89- others(496): Show c.89-2403_89-2402insTTTTTTTTTTTTTTTTTTTTTTTTTTAAGT ACAATTTCCATTTTATTTTTCTCCAGAGAATAGCCTGTCTTCAGTCTTTA AGAACTCAGCTCCTTACATGGGCTTTGGTGGGGGACGTGGGGCAGCACCC GCAGGTCTAAATCGGGGTGGGGGTGTTCGGTCCTTGCGGGCTTCACGAGA TCGATTCCTGACTACTTTGCTGTGAATTGCACAACTCACACAGTAATGTA GCTTCACATACAGCTTGGGAAGCACATAGGCATCGAAGACGCTCGCTTCA GAAATGTCCCTGACTGCTGCGGCCTCCACTATGTTTCGAATGACGAATTT CTTAATGGCCTTGTCCTTGGGCACGCATCGGGCACAGTTAGTGCAGCGAA TAGGCTGCACGTGGCCGCGGCCCTTTTTGGCACGACCATTGTTCCTTCTT TTCTTTGTCATCTTGGAGGCACGGACCGGAGACCCCCGGCTAATTTTTTT T		MYCBP	ENSG00000214114.9	transcript	ENST00000397572.5	protein_coding	2/4						chr1	TogoVar
NACC2_chr9_136001537_136100289	136074427	C C	CGGGCGAC others(474): Show CGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATTAGC CAGGCATGGTGGGACACACCTGTCATTCCAGCTACTTGGGAGGCTGAGGG AGGAGGATCCCTTGAGCCTAGGAATTCGAGGCTGCAGTGAGCTATGATCC CACCACCACACTCTAGCCTGGGGCCACAAAGCAAGACCCTGTCTCAAAAA AAAAAAAAAAAAAAGAAAAGAAAACAGTTCGGGCACGGTGGCTCACGCCT GTAATCCCAACACTTTGGAAGGCCAAGGCGGGTGGATCATGAGGTCAGGA GAACAAGACCATATTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTGGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0094 a0001c0007t0094	a0001c0007t0094g0038 a0001c0007t0094g0038	1	301	0.0033	481	c.-60 others(500): Show c.-60+20761_-60+20762insAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCCAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAATATGGTC TTGTTCTCCTGACCTCATGATCCACCCGCCTTGGCCTTCCAAAGTGTTGG GATTACAGGCGTGAGCCACCGTGCCCGAACTGTTTTCTTTTCTTTTTTTT TTTTTTTTTTTGAGACAGGGTCTTGCTTTGTGGCCCCAGGCTAGAGTGTG GTGGTGGGATCATAGCTCACTGCAGCCTCGAATTCCTAGGCTCAAGGGAT CCTCCTCCCTCAGCCTCCCAAGTAGCTGGAATGACAGGTGTGTCCCACCA TGCCTGGCTAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGT CGCCC		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5						chr9	TogoVar
NACC2_chr9_136001537_136100289	136074452	C C	CAAAAAAA others(474): Show CAAAAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGGACACACCTGTCAT TCCAGCTACTTGGGAGGCTGAGGGAGGAGGATCCCTTGAGCCCAGGAATT CGAGGCTGCAGTGAGCTATGATCCCACCACCACACTCTAGCCTGGGGCCA CAAAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAACA GTTCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCAA GGCGGGTGGATCATGAGGTCAGGAGAACAAGACCATATTGGCTAACATGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTGGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGCAAGACTCCGTCTCA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01517.hp2 HG02970.hp1 others(2): Show HG01192.hp2 HG01517.hp2 HG02970.hp1 NA18948.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0008 a0001c0001t0009 a0001c0002t0045 others(2): Show a0001c0001t0008 a0001c0001t0009 a0001c0002t0045 a0001c0004t0004 a0001c0004t0021	a0001c0001t0008g0192 a0001c0001t0009g0065 a0001c0002t0045g0153 others(2): Show a0001c0001t0008g0192 a0001c0001t0009g0065 a0001c0002t0045g0153 a0001c0004t0004g0237 a0001c0004t0021g0238	5	63	0.0794	481	c.-60 others(500): Show c.-60+20736_-60+20737insTGAGACGGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTAGCCAATATGGTCTTGTTCTCCTGACCTCATGATCCA CCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGC CCGAACTGTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTT GCTTTGTGGCCCCAGGCTAGAGTGTGGTGGTGGGATCATAGCTCACTGCA GCCTCGAATTCCTGGGCTCAAGGGATCCTCCTCCCTCAGCCTCCCAAGTA GCTGGAATGACAGGTGTGTCCCACCATGCCTGGCTAATTTTTTTTTTTTT TTTTT		NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5						chr9	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAA others(474): Show TAATATAATATATATAAATATATAATATATATAATATATATTATATATAA ATATATAATATATATTATATATTATATATATTATAATATATAATATATAT TATATATTATATATATTATAATATATAATATATATAATATATATTATATA TTATATATATATAATATATAATATATATTATATATAAATATATAATATAT AATATATATTATATATATATATTATATAATATATAATATATTATATATAT TATATAATATATTGTATATTATATAATATATAATATATAATATATATTAT ATATAAATATATAATATATAATATAATATATAATATATTATATATATTAT ATTATATATATTATATTATATATAATATATTATATATTATATATTTATAT ATAATATATATATAATATATATTATATATTATATAATATATTATATATTA TATATTATATATAATATATTATATAATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0070 a0003c0004t0070	a0003c0004t0070g0068 a0003c0004t0070g0068	1	202	0.0050	481	c.48+ others(496): Show c.48+1020_48+1021insAATATAATATATATAAATATATAATATATA TAATATATATTATATATAAATATATAATATATATTATATATTATATATAT TATAATATATAATATATATTATATATTATATATATTATAATATATAATAT ATATAATATATATTATATATTATATATATATAATATATAATATATATTAT ATATAAATATATAATATATAATATATATTATATATATATATTATATAATA TATAATATATTATATATATTATATAATATATTGTATATTATATAATATAT AATATATAATATATATTATATATAAATATATAATATATAATATAATATAT AATATATTATATATATTATATTATATATATTATATTATATATAATATATT ATATATTATATATTTATATATAATATATATATAATATATATTATATATTA TATAATATATTATATATTATATATTATATATAATATATTATATAATATAT A		NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3						chr21	TogoVar
NFATC1_chr18_79390930_79534323	79494277	A A	ACGGCCGG others(474): Show ACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTAC GGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCC GGGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTACCGCCGG GGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTGCGGCCGGGG GAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGA AGGCGGAGAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAA GGCGAGAGGGGGCACACGCCCCCCATGAACCTGGTACCGCTGGGGGAAGG CGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCG AGAGCGGGCACACGCCCCCCATGAACCTGGTG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0133 a0001c0006t0003g0133	1	202	0.0050	481	c.278 others(500): Show c.2782+7341_2782+7342insGGCCGGGGGAAGGCGAGAGCGGGCAC ACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGC CCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAACGGGCACACGCCC CCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAACGGGCACACGCCCCC CATCAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TGAACCTGGTACCGCCGGGGGAAGGCGGAGAGCGGGCACACGCCCCCCAT CGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGGCACACGCCCCCCATGA ACCTGGTACCGCTGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAAC CTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCT GGTGC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar

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