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	status	chr	external
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(171): Show GGAGGGGAGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGCA GGGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAGA GGAGGAAGGGAGAGGGGGAGGGGGAGGGAGAGGGAAGGGGAGTGCGAGGG GAGGGGGAGGGGAGAGGGAGGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(81): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp2 HG00741.hp2 HG01167.hp1 HG01168.hp1 HG01192.hp2 HG01358.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03942.hp2 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18985.hp2 NA18986.hp1 NA18995.hp1 NA18999.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19043.hp1 NA19058.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19080.hp1 NA19081.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0010 a0001c0011 a0001c0017 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0004t0007 a0001c0008t0001 a0001c0010t0009 a0001c0011t0001 a0001c0017t0001 a0002c0007t0002	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0037 others(60): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0002g0114 a0001c0001t0009g0010 a0001c0001t0009g0165 a0001c0001t0009g0262 a0001c0002t0001g0011 a0001c0002t0001g0017 a0001c0002t0001g0040 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0219 a0001c0002t0001g0234 a0001c0002t0001g0237 a0001c0004t0007g0176 a0001c0008t0001g0032 a0001c0008t0001g0172 a0001c0010t0009g0168 a0001c0010t0009g0169 a0001c0011t0001g0263 a0001c0011t0001g0264 a0001c0017t0001g0248 a0002c0007t0002g0105	84	432	0.1944	178	c.124 others(195): Show c.124+2040_124+2041insTCCCTCCCCCTCCCTCTCCCCTCCCCCT CCCCTCGCACTCCCCTTCCCTCTCCCTCCCCCTCCCCCTCTCCCTTCCTC CTCTCCTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCCTCCC CTGCCCCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCCCTCCCCTC	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(171): Show GGAGGGGAGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGCA GGGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAGA GGAGGAAGGGAGAGGGGGAGGGGGAGGGAGAGGGAAGGGGAGTGCGAGGG GAGGGGGAGGGGCGAGGGAGGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG00733.hp1 others(52): Show HG00544.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01175.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01993.hp2 HG02109.hp1 HG02148.hp2 HG02155.hp2 HG02572.hp1 HG02602.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18939.hp1 NA18948.hp1 NA18952.hp1 NA18965.hp2 NA18980.hp2 NA18983.hp1 NA19012.hp1 NA19043.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0005c0013	a0001c0001t0001 a0001c0003t0001 a0001c0004t0007 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0007 a0001c0005t0001 a0005c0013t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0033 others(32): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0003t0001g0012 a0001c0003t0001g0185 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0203 a0001c0003t0001g0209 a0001c0004t0007g0015 a0001c0004t0007g0205 a0001c0004t0007g0206 a0001c0004t0007g0207 a0001c0005t0001g0013 a0001c0005t0001g0197 a0005c0013t0001g0198	55	432	0.1273	178	c.124 others(195): Show c.124+2040_124+2041insTCCCTCCCCCTCCCTCGCCCCTCCCCCT CCCCTCGCACTCCCCTTCCCTCTCCCTCCCCCTCCCCCTCTCCCTTCCTC CTCTCCTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCCTCCC CTGCCCCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCCCTCCCCTC	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8		chr17	TogoVar
ASH1L_chr1_155330268_155567803	155493713	C C	CAAAAAAA others(171): Show CAAAAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	182	0.0055	178	c.421 others(197): Show c.421-11265_421-11264insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTT TT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	2/27		chr1	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(171): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCCTCACTTCCTCCCTCCCTC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0234 a0002c0002t0003g0234	1	378	0.0027	178	c.960 others(195): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCCTCACT TCCTCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2	INFO_REALIGN_3_PRIME	chr2	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(171): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18949.hp2 HG00621.hp2 NA18949.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0003 a0002c0002t0003 a0001c0007t0003 a0002c0002t0003	a0001c0007t0003g0145 a0002c0002t0003g0266 a0001c0007t0003g0145 a0002c0002t0003g0266	2	378	0.0053	178	c.960 others(195): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2	INFO_REALIGN_3_PRIME	chr2	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(171): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0302 a0002c0002t0003g0302	1	378	0.0027	178	c.960 others(195): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2	INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP11A_chr13_112685038_112892168	112804042	T T	TCCCCTCC others(171): Show TCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTC CTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCT CCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTT CCTCCTTGCTTCCCTTCCTTCCCTCATTC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0164 a0001c0006t0001g0164	1	254	0.0039	178	c.163 others(193): Show c.163-912_163-911insCTCCTTCCCTCCTTCACCTCCCTCCCCCCA TCCCCTCTCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCC TCCTTCCCCTCCTTTTCCTCCTTGCTTCCCTTCCTTCCCTCATTCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29	INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112872948	G G	GTGGTGTG others(171): Show GTGGTGTGAGGTGTGACTTTGTCTTCCTGAGCAGTGTGAGGTGTGGCTTT GTCTCCCGAAGGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGG TGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAG CAGTGTGAGGTGTGGCTTTGTCTCCGGAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG02622.hp2 others(2): Show HG01109.hp1 HG02572.hp1 HG02622.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0001 a0001c0002t0013 a0001c0017t0076 a0001c0002t0001 a0001c0002t0013 a0001c0017t0076	a0001c0002t0001g0032 a0001c0002t0013g0111 a0001c0002t0013g0117 others(2): Show a0001c0002t0001g0032 a0001c0002t0013g0111 a0001c0002t0013g0117 a0001c0002t0013g0211 a0001c0017t0076g0154	5	254	0.0197	178	c.305 others(195): Show c.3058-625_3058-624insTGGTGTGAGGTGTGACTTTGTCTTCCTG AGCAGTGTGAGGTGTGGCTTTGTCTCCCGAAGGGTGTGAGGTGTGGCTTT GTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAG GTGTGGCTTTGTCTTCCTGAGCAGTGTGAGGTGTGGCTTTGTCTCCGGAA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29		chr13	TogoVar
AVL9_chr7_32490489_32593726	32579439	A A	ATAATATA others(171): Show ATAATATATATATAATATATAATATTATATTATATTATATATTATATATA TTATATATTATATATATAATATATTATATTATATATTATATATTATATAT ATAATATATTATATTATATATTATATATTATATATATAATATATTATATT ATATATTATATATTATATATATAATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0121 a0002c0003t0002g0121	1	330	0.0030	178	c.168 others(195): Show c.1689-778_1689-777insATATATATATAATATATAATATTATATT ATATTATATATTATATATATTATATATTATATATATAATATATTATATTA TATATTATATATTATATATATAATATATTATATTATATATTATATATTAT ATATATAATATATTATATTATATATTATATATTATATATATAATATATTA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15	INFO_REALIGN_3_PRIME	chr7	TogoVar
BCHE_chr3_165767904_165842423	165797218	T T	TTCCCTCC others(171): Show TTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCTTCCCTCCCTCCCCCCTCC CTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTC CTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCC CTCCCTTCCTTCCTTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	304	0.0033	178	c.151 others(199): Show c.1518-10908_1518-10907insGGGAGGAAGGAAGGAAGGAAGGAA GGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAA GGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAA GGAAGGGAGGGGGGAGGGAGGGAAGAAGGAAGGAGGGAAGGAAGGAAGGA GGGA	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3		chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GAGGGGGA others(171): Show GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGG AGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAAGGCAGGGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG02056.hp2 others(6): Show HG00558.hp2 HG00621.hp1 HG02056.hp2 HG03654.hp2 NA18943.hp2 NA18948.hp1 NA18973.hp2 NA18986.hp1 NA19004.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0010 a0001c0001 a0001c0002 a0003c0010	a0001c0001t0001 a0001c0002t0001 a0003c0010t0001 a0001c0001t0001 a0001c0002t0001 a0003c0010t0001	a0001c0001t0001g0042 a0001c0001t0001g0094 a0001c0001t0001g0157 others(6): Show a0001c0001t0001g0042 a0001c0001t0001g0094 a0001c0001t0001g0157 a0001c0001t0001g0187 a0001c0001t0001g0235 a0001c0002t0001g0054 a0001c0002t0001g0096 a0001c0002t0001g0266 a0003c0010t0001g0156	9	276	0.0326	178	c.490 others(197): Show c.490-21336_490-21335insGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGG AAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGA GGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAAGGCAGGG CA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6	INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GAGGGGGA others(171): Show GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGTAAGGGGAGGGGAGGGGGAGGGG AGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAAGGCAGGGC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18983.hp2 NA18986.hp2 NA18960.hp2 NA18983.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0116 a0001c0001t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0116	3	276	0.0109	178	c.490 others(197): Show c.490-21336_490-21335insGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGT AAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGA GGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAAGGCAGGG CA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6	INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(171): Show ATATATATATATATATATATATATATACCCATGGGTATATATATATATAT ATATATATATATACCCATGGGTATATATATATATATATATATATACCCAT GGGTATATATATATATATATATATATATATATATACCCATGGGTATATAT ATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0218 a0001c0003t0012g0218	1	386	0.0026	178	c.-81 others(197): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATACCCATGGG TATATATATATATATATATATATATATATATACCCATGGGTATATATATA TATATATATATATATATACCCATGGGTATATATATATATATATATATATA TA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19	INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236288	A A	ATATATAT others(171): Show ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATATATACCCATGGGTATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATATATATATACCCATGGGTATATAT ATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	386	0.0026	178	c.-81 others(197): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATACCCATG GGTATATATATATATATATATATATATATATATATACCCATGGGTATATA TATATATATATATATATATATACCCATGGGTATATATATATATATATATA TA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19	INFO_REALIGN_3_PRIME	chr3	TogoVar
BRD1_chr22_49768283_49832873	49775817	C C	CCCCCCCC others(171): Show CCCCCCCCCGCCCCCCGCAGCTGTGTGAGCCTCCTCAGATCCCCCCCACG CCCCCCTCGCCGAACCATCCCTGCCCCTTCCAGCTGTGTGAACCTCCTCC GACCAACCCCGCCCCCCTGCCAGCTGTGTGAGCCTCCTCAGATCCCCCCC GCCCCGCAGCTGTGTGAGCCTCCTCAGAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	258	0.0039	178	c.323 others(193): Show c.3232-73_3232-72insATCTGAGGAGGCTCACACAGCTGCGGGGCG GGGGGGATCTGAGGAGGCTCACACAGCTGGCAGGGGGGCGGGGTTGGTCG GAGGAGGTTCACACAGCTGGAAGGGGCAGGGATGGTTCGGCGAGGGGGGC GTGGGGGGGATCTGAGGAGGCTCACACAGCTGCGGGGGGCGGGGGGGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12		chr22	TogoVar
BRD1_chr22_49768283_49832873	49775819	C C	CCCCCCCG others(171): Show CCCCCCCGCCCCCCGCAGCTGTGTGAGCCTCCTCAGACCACCCCCACGCC CCCCTCGCCGAACCACCCCTGCCCCTTCCAGCTGTGTGAACCTCCTCCGA CCAACCCCGCCCCCCTGCCAGCTGTGTGAGCCTCCTCAGATCCCCCCCGC CCCGCAGCTGTGTGAGCCTCCTCAGAACT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	258	0.0039	178	c.323 others(193): Show c.3232-75_3232-74insAGTTCTGAGGAGGCTCACACAGCTGCGGGG CGGGGGGGATCTGAGGAGGCTCACACAGCTGGCAGGGGGGCGGGGTTGGT CGGAGGAGGTTCACACAGCTGGAAGGGGCAGGGGTGGTTCGGCGAGGGGG GCGTGGGGGTGGTCTGAGGAGGCTCACACAGCTGCGGGGGGCGGGGGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12		chr22	TogoVar
BRD1_chr22_49768283_49832873	49775819	C C	CCCCCCCG others(171): Show CCCCCCCGCCCCCCGCAGCTGTGTGAGCCTCCTCAGACCACCCCCACGCC CCCCTCGCCGAACCATCCCTGCCCCTTCCAGCTGTGTGAACCTCCTCCGA CCAACCCCGCCCCCCTGCCAGCTGTGTGAGCCTCCTCAGATCCCCCCCGC CCCGCAGCTGTGTGAGCCTCCTCAGAACT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01261.hp2 HG02071.hp2 others(8): Show HG01071.hp1 HG01261.hp2 HG02071.hp2 HG02145.hp1 HG02559.hp2 HG02602.hp1 HG02717.hp2 HG02723.hp1 HG03516.hp1 NA18522.hp2 NA19066.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0003c0007	a0001c0001t0002 a0001c0002t0001 a0001c0002t0008 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0008 a0001c0006t0001 a0002c0003t0003 a0003c0007t0006	a0001c0001t0002g0082 a0001c0001t0002g0109 a0001c0002t0001g0032 others(7): Show a0001c0001t0002g0082 a0001c0001t0002g0109 a0001c0002t0001g0032 a0001c0002t0008g0012 a0001c0006t0001g0055 a0002c0003t0003g0223 a0002c0003t0003g0234 a0002c0003t0003g0235 a0003c0007t0006g0004 a0003c0007t0006g0011	11	258	0.0426	178	c.323 others(193): Show c.3232-75_3232-74insAGTTCTGAGGAGGCTCACACAGCTGCGGGG CGGGGGGGATCTGAGGAGGCTCACACAGCTGGCAGGGGGGCGGGGTTGGT CGGAGGAGGTTCACACAGCTGGAAGGGGCAGGGATGGTTCGGCGAGGGGG GCGTGGGGGTGGTCTGAGGAGGCTCACACAGCTGCGGGGGGCGGGGGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12		chr22	TogoVar
BRD1_chr22_49768283_49832873	49775819	C C	CCCCCCGG others(171): Show CCCCCCGGCCCCCCGCAGCTGTGTGAGCCTCCTCAGACCACCCCCACGCC CCCCTCGCCGAACCATCCCTGCCCCTTCCAGCTGTGTGAACCTCCTCCGA CCAACCCCGCCCCCCTGCCAGCTGTGTGAGCCTCCTCAGATCGCCCCCGC CCCGCAGCTGTGTGAGCCTCCTCAGAACT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0219 a0001c0002t0001g0219	1	258	0.0039	178	c.323 others(193): Show c.3232-75_3232-74insAGTTCTGAGGAGGCTCACACAGCTGCGGGG CGGGGGCGATCTGAGGAGGCTCACACAGCTGGCAGGGGGGCGGGGTTGGT CGGAGGAGGTTCACACAGCTGGAAGGGGCAGGGATGGTTCGGCGAGGGGG GCGTGGGGGTGGTCTGAGGAGGCTCACACAGCTGCGGGGGGCCGGGGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12		chr22	TogoVar
BRD1_chr22_49768283_49832873	49775819	C C	CCCCGCCG others(171): Show CCCCGCCGCCCCCCGCAGCTGTGTGAGCCTCCTCAGACCACCCCCACGCC CCCCTCGCCGAACCATCCCTGCCCCTTCCAGCTGTGTGAACCTCCTCCGA CCAACCCCGCCCCCCTGCCAGCTGTGTGAGCCTCCTCAGATCCCCCCCGC CCCGCAGCTGTGTGAGCCTCCTCAGAACT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	258	0.0039	178	c.323 others(193): Show c.3232-75_3232-74insAGTTCTGAGGAGGCTCACACAGCTGCGGGG CGGGGGGGATCTGAGGAGGCTCACACAGCTGGCAGGGGGGCGGGGTTGGT CGGAGGAGGTTCACACAGCTGGAAGGGGCAGGGATGGTTCGGCGAGGGGG GCGTGGGGGTGGTCTGAGGAGGCTCACACAGCTGCGGGGGGCGGCGGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12		chr22	TogoVar
BTNL9_chr5_181035266_181066521	181045918	C C	CTCAACAC others(171): Show CTCAACACCTCCTCCACCATCTCCCCAGCCGGTAGTGTTCCTCCACCATC TCCCCAGCCCTCAATACCTCCTCCACCATCTCCCCAGCACCCAACACCTC CTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCCT CAATACCTCCTCCACCATCTCCCCAGCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 HG02572.hp2 HG02922.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0012 a0001c0013t0012	a0001c0013t0012g0259 a0001c0013t0012g0260 a0001c0013t0012g0259 a0001c0013t0012g0260	2	390	0.0051	178	c.109 others(193): Show c.109+320_109+321insTCAACACCTCCTCCACCATCTCCCCAGCCG GTAGTGTTCCTCCACCATCTCCCCAGCCCTCAATACCTCCTCCACCATCT CCCCAGCACCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCT CCACCATCTCCCCAGCCCTCAATACCTCCTCCACCATCTCCCCAGCCT	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	2/10		chr5	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(171): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCC GGACAGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCCCCGCCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0211 a0003c0003t0001g0211	1	326	0.0031	178	c.144 others(195): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCC CCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4	INFO_REALIGN_3_PRIME	chr2	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(171): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTCTTTC TTTCTTTCTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCTCTCT CTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0004 a0004	a0004c0080 a0004c0080	a0004c0080t0009 a0004c0080t0009	a0004c0080t0009g0129 a0004c0080t0009g0129	1	218	0.0046	178	c.573 others(197): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAG AAAGAAAGAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG AA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(171): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTCTTTC TTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCT CTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01975.hp2 HG02083.hp2 others(2): Show HG01081.hp1 HG01975.hp2 HG02083.hp2 HG03195.hp2 NA19079.hp1	a0001 a0018 a0030 a0001 a0018 a0030	a0001c0004 a0001c0006 a0001c0049 others(2): Show a0001c0004 a0001c0006 a0001c0049 a0018c0017 a0030c0044	a0001c0004t0032 a0001c0006t0001 a0001c0049t0001 others(2): Show a0001c0004t0032 a0001c0006t0001 a0001c0049t0001 a0018c0017t0014 a0030c0044t0005	a0001c0004t0032g0081 a0001c0006t0001g0032 a0001c0049t0001g0012 others(2): Show a0001c0004t0032g0081 a0001c0006t0001g0032 a0001c0049t0001g0012 a0018c0017t0014g0212 a0030c0044t0005g0175	5	218	0.0229	178	c.573 others(197): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAG AAAGAAAGAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG AA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(171): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTC TTTCTTTCTTTCTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCT CTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0022 a0022	a0022c0109 a0022c0109	a0022c0109t0005 a0022c0109t0005	a0022c0109t0005g0198 a0022c0109t0005g0198	1	218	0.0046	178	c.573 others(197): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGAAAG AAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG AA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(171): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTCTTTC TTTCTTTCTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCTCTCT CTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0011 a0011	a0011c0043 a0011c0043	a0011c0043t0015 a0011c0043t0015	a0011c0043t0015g0043 a0011c0043t0015g0043	1	218	0.0046	178	c.573 others(197): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAG AAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG AA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(171): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTCTT TCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCT CTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0008 a0005c0024t0008	a0005c0024t0008g0214 a0005c0024t0008g0214	1	218	0.0046	178	c.573 others(197): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAA AGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG AA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46		chr19	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(171): Show TATATACATATATACGCGTATATATATGTATATACATATATACGCGTATA TATATGTATATACATATATACGCGTATATATATGTATATACATATATACG CGTATATATATGTATATACATATATATACGCGTATATATATGTATATACA TATATATACGCGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03834.hp1 NA18977.hp1 others(3): Show HG02717.hp2 HG03834.hp1 NA18977.hp1 NA18993.hp2 NA19003.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0001 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0120 others(3): Show a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0004g0092 a0001c0001t0004g0127 a0001c0001t0011g0096	6	164	0.0366	178	c.125 others(197): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATATGTATATACATATATATACGCGTATATATATGTATATACATATATAT ACGCGTATATATGTATATACATATATATACGCGTATATATGTATATACAT ATATATACGCGTATATATGTATATACATATATATACGCGTATATATGTAT AT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11		chr11	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(171): Show TATATACATATATACGCGTATATATATGTATATACATATATACGCGTATA TATATGTATATACATATATACGCGTATATATATGTATATACATATATATA CGCGTATATATATGTATATACATATATACGCGTATATATATGTATATACA TATATATACGCGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp1 HG01261.hp1 others(4): Show HG01106.hp2 HG01255.hp1 HG01261.hp1 HG02074.hp2 HG03540.hp1 HG03704.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 others(2): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0036 a0001c0001t0066	a0001c0001t0006g0081 a0001c0001t0008g0032 a0001c0001t0008g0072 others(4): Show a0001c0001t0006g0081 a0001c0001t0008g0032 a0001c0001t0008g0072 a0001c0001t0008g0075 a0001c0001t0014g0086 a0001c0001t0036g0129 a0001c0001t0066g0033	7	164	0.0427	178	c.125 others(197): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATATGTATATACATATATATACGCGTATATATGTATATACATATATATAC GCGTATATATATGTATATACATATATATACGCGTATATATGTATATACAT ATATATACGCGTATATATGTATATACATATATATACGCGTATATATGTAT AT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11		chr11	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACATACA others(171): Show CACATACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATATACACACATATATGTATGTG TATATATACACACACATATACACACGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0026 a0002c0002t0009g0026	1	262	0.0038	178	c.218 others(193): Show c.218+721_218+722insACATACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAT ACACACATATATGTATGTGTATATATACACACACATATACACACGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14		chr7	TogoVar
CAMKMT_chr2_44356947_44777592	44588648	T T	TGGGGGGA others(171): Show TGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02451.hp2 HG02486.hp1 others(5): Show HG01258.hp2 HG02451.hp2 HG02486.hp1 HG03041.hp2 HG03098.hp1 HG03579.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0105 a0001c0001t0002g0021 a0001c0001t0002g0022 others(5): Show a0001c0001t0001g0105 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0042 a0001c0001t0002g0170 a0001c0001t0003g0165 a0001c0003t0001g0003	8	198	0.0404	178	c.377 others(199): Show c.377-115629_377-115628insATCAGCCCCCCGCCTGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAA GTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10	INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP2_chr1_200733893_200865704	200816951	C C	CACACACA others(171): Show CACACACACGCGTGTGTATGTGTGTACACACACGCGTGTGTATGTGTGTA CACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTG TACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTG TGTACACACACACGCGTGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	366	0.0027	178	c.645 others(195): Show c.645+1329_645+1330insGTACACACACGCGTGTGTATGTGTGTAC ACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGTGTACACACACGCGTGTGTATGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16	INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN11_chr6_44153820_44189401	44181574	C C	CCACACTC others(171): Show CCACACTCACACACACACACTCACATACAGACACAACCACACCACACTCA CACACACACTCACATACAGACACAACCACACCACACTCACACACACATAC ACACTCACATACAGACACAACCACACCACACTCACACACACACATACACA CTCACATACAGACACAACCACACCACACT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03098.hp1 HG01891.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0304 a0001c0001t0001g0305	2	460	0.0044	178	c.193 others(195): Show c.1938+259_1938+260insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACTCACATACAGACACAACCACACCAC ACTCACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACACATACACACTCACATACAGACACAACCACACCACACTCACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22	INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182224	T T	TACACACT others(171): Show TACACACTCACATACAGACACAACCACACCACACACACACACACATACAC ACTCACATAGACACAACCACACCACACTCACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACACATACACACTCACATAC AGACACAACCACACCACACTCACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02647.hp1 others(1): Show HG01884.hp2 HG02109.hp2 HG02647.hp1 NA18906.hp2	a0003 a0005 a0008 a0003 a0005 a0008	a0003c0003 a0005c0006 a0008c0008 a0003c0003 a0005c0006 a0008c0008	a0003c0003t0002 a0005c0006t0001 a0008c0008t0001 a0003c0003t0002 a0005c0006t0001 a0008c0008t0001	a0003c0003t0002g0379 a0005c0006t0001g0209 a0005c0006t0001g0387 others(1): Show a0003c0003t0002g0379 a0005c0006t0001g0209 a0005c0006t0001g0387 a0008c0008t0001g0417	4	460	0.0087	178	c.193 others(195): Show c.1939-669_1939-668insCACTCACATAGACACAACCACACCACAC TCACACACACATACACACTCACATACAGACACAACCACACCACACTCACA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACACTCACATACAGACACAACCACACCACACACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22	INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38735937	G G	GGGGGCGG others(171): Show GGGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGCGGGGCGGGCGG GGCGGGCGGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGCGG GGCGGGGCGGGGCGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGG CGGGCGGGGCGGGGCGGGGCGGGCGGGGC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0022 a0003c0005t0004g0022	1	342	0.0029	178	c.158 others(195): Show c.1583+172_1583+173insGCCCCGCCCGCCCCGCCCCGCCCCGCCC GCCCCGCCCCGCCCCGCCCCGCCCGCCCCGCCCCGCCCGCCCCGCCCCGC CCCGCCCGCCCCGCCCGCCCCGCCCGCCCCGCCCGCCCCGCCCCGCCCGC CCCGCCCGCCCCGCCCGCCCCGCCCCGCCCGCCCCGCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20		chr19	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(171): Show CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGC CTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0158 a0001c0001t0015g0158	1	410	0.0024	178	c.-22 others(195): Show c.-22-1944_-22-1943insCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTC GTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13	INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544867	C C	CCTCCCCT others(171): Show CCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGCCGTCTCCCCTCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACG TCGTCGTCTCCCCTCACGTCGTCGTCTCCCCTCACGTCGTCGTCTCCCCT CACGTCGTCGTCTCCCCTCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp1 HG02970.hp2 HG03041.hp1	a0003 a0005 a0003 a0005	a0003c0037 a0005c0036 a0003c0037 a0005c0036	a0003c0037t0001 a0005c0036t0001 a0003c0037t0001 a0005c0036t0001	a0003c0037t0001g0382 a0005c0036t0001g0392 a0003c0037t0001g0382 a0005c0036t0001g0392	2	410	0.0049	178	c.-22 others(195): Show c.-22-1936_-22-1935insCCTCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCACGCCGTCTCCCCTCACGTCGTCGTCTCCCCCACGTCGCCTC CCCCACGTCGTCGTCTCCCCTCACGTCGTCGTCTCCCCTCACGTCGTCGT CTCCCCTCACGTCGTCGTCTCCCCTCACGTCGTCGTCTCCCCTCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13	INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544867	C C	CCTCCCCT others(171): Show CCTCCCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCC CCACGCCGTCTCCCCTCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCAC GTCGTCGTCTCCCCTCACGTCGTCGTCTCCCCTCACGTCGTCGTCTCCCC TCACGTCGTCGTCTCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02622.hp1 NA18947.hp2 others(6): Show HG01433.hp1 HG02622.hp1 NA18947.hp2 NA18955.hp1 NA18975.hp1 NA19003.hp1 NA19030.hp1 NA19077.hp1 NA19087.hp1	a0003 a0005 a0023 a0003 a0005 a0023	a0003c0010 a0003c0011 a0003c0031 others(3): Show a0003c0010 a0003c0011 a0003c0031 a0003c0040 a0005c0038 a0023c0041	a0003c0010t0001 a0003c0011t0001 a0003c0031t0021 others(3): Show a0003c0010t0001 a0003c0011t0001 a0003c0031t0021 a0003c0040t0001 a0005c0038t0001 a0023c0041t0004	a0003c0010t0001g0022 a0003c0010t0001g0032 a0003c0010t0001g0033 others(6): Show a0003c0010t0001g0022 a0003c0010t0001g0032 a0003c0010t0001g0033 a0003c0010t0001g0034 a0003c0011t0001g0038 a0003c0031t0021g0280 a0003c0040t0001g0360 a0005c0038t0001g0035 a0023c0041t0004g0385	9	410	0.0220	178	c.-22 others(195): Show c.-22-1936_-22-1935insCCTCCCCTCACGTCGCCTCCCCCACGTC GCCTCCCCCACGCCGTCTCCCCTCACGTCGTCGTCTCCCCCACGTCGCCT CCCCCACGTCGTCGTCTCCCCTCACGTCGTCGTCTCCCCTCACGTCGTCG TCTCCCCTCACGTCGTCGTCTCCCCCACGTCGTCGTCTCCCCTCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13	INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88930809	T T	TGGGGGTG others(171): Show TGGGGGTGGAGGAGTGAGGAGATGGGGAGGGGCAGACTGGGGGCTGGGGT GGAGGAGTGAGGAGATGGGGAGGGGCAGACTGTGGGCTGGGGGTGGAGGA GCGAGGAGATGGGGAAGGGGCAGACTGGGGGCTGGGGGTGGAGGAGCGAG GAGATGGGGAGGGGGCAGACTGGGGGTTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0011 a0001c0021t0011	a0001c0021t0011g0077 a0001c0021t0011g0077	1	284	0.0035	178	c.152 others(197): Show c.152-29154_152-29153insCAACCCCCAGTCTGCCCCCTCCCCAT CTCCTCGCTCCTCCACCCCCAGCCCCCAGTCTGCCCCTTCCCCATCTCCT CGCTCCTCCACCCCCAGCCCACAGTCTGCCCCTCCCCATCTCCTCACTCC TCCACCCCAGCCCCCAGTCTGCCCCTCCCCATCTCCTCACTCCTCCACCC CC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11		chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975134	G G	GACCTCCA others(171): Show GACCTCCAGCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTGACCT GCAGCCATGTCAGAGGTCCACCCTGGCCCTCTCTGCTCCACATCTTTAGC CATGTCAGAGGTCCACCCTGACCCTCTGCTCCTGACCTCCAGCCATGTCA GAGGTCCACCCTGACCCTCTCTGCTCCTC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	284	0.0035	178	c.151 others(195): Show c.151+1522_151+1523insGAGGAGCAGAGAGGGTCAGGGTGGACCT CTGACATGGCTGGAGGTCAGGAGCAGAGGGTCAGGGTGGACCTCTGACAT GGCTAAAGATGTGGAGCAGAGAGGGCCAGGGTGGACCTCTGACATGGCTG CAGGTCAGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTGGAGGT	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11		chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975155	T T	TCCACCCT others(171): Show TCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCAC CCTGACCCTCTGCTCCTCACCTGCAGCCATATCAAAGGGCCACCCTGACC CTCTCTGCTCCACATCTTTAGCCATGTCAGAGGTCCACCCTGACCCTCTC TGCTCCTGACCTGCAGCCATATCAAAGGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0179 a0001c0001t0008g0179	1	284	0.0035	178	c.151 others(195): Show c.151+1501_151+1502insCCCTTTGATATGGCTGCAGGTCAGGAGC AGAGAGGGTCAGGGTGGACCTCTGACATGGCTAAAGATGTGGAGCAGAGA GGGTCAGGGTGGCCCTTTGATATGGCTGCAGGTGAGGAGCAGAGGGTCAG GGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAGGGTCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11		chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975155	T T	TCCACCCT others(171): Show TCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCAC CCTGGCCCTCTCTGCTCCTGACCTCCAGCCATGTCAGAGGTCCACCCTGA CCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTC TGCTCCTGACCTGCAGCCATATCAAAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	284	0.0035	178	c.151 others(195): Show c.151+1501_151+1502insCCCTTTGATATGGCTGCAGGTCAGGAGC AGAGGATCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAGG GTCAGGGTGGACCTCTGACATGGCTGGAGGTCAGGAGCAGAGAGGGCCAG GGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAGGGTCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11		chr16	TogoVar
CCDC15_chr11_124949202_125046489	125025067	A A	AATATATA others(171): Show AATATATATATGAATATATATATGAATATATATATGAATATATATATGAA TATATATATGAATATATATATGAATATATATATGAATATATATATGAATA TATATATGAATATATATGAATATATATATGAATATATATGAATATATATA TGAATATATATATGAATATATATGAATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03927.hp2 HG03239.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0071 a0002c0002t0001g0064 a0002c0002t0001g0071	2	350	0.0057	178	c.241 others(199): Show c.2412-13358_2412-13357insATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATAT	CCDC15	ENSG00000149548.15	transcript	ENST00000344762.6	protein_coding	13/15	INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC6_chr10_59783747_59911556	59882024	C C	CAGGGGGA others(171): Show CAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGA AGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAA GGAAAGCCGGCGGGAGAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	288	0.0035	178	c.303 others(197): Show c.303+24097_303+24098insCTTTCCTTTCCTTCTCCCGCCGGCTT TCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTT CCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTT CTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCC CT	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8		chr10	TogoVar
CCDC88C_chr14_91266323_91422820	91293558	G G	GCCTGCCA others(171): Show GCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTC CTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACG GCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTC GCCTGCCACAGCTCACCTTCCCATCCTCA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0203 a0001c0020t0001g0203	1	284	0.0035	178	c.411 others(195): Show c.4112+614_4112+615insTGAGGATGGGAAGGTGAGCTGTGGCAGG CGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGG CCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCA GGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29		chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(171): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC AGCTCACCTTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18967.hp1 NA18973.hp1 others(2): Show HG03130.hp2 NA18967.hp1 NA18973.hp1 NA19010.hp1 NA19058.hp1	a0001 a0007 a0023 a0001 a0007 a0023	a0001c0001 a0001c0004 a0007c0017 others(1): Show a0001c0001 a0001c0004 a0007c0017 a0023c0067	a0001c0001t0001 a0001c0001t0012 a0001c0004t0012 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0004t0012 a0007c0017t0002 a0023c0067t0001	a0001c0001t0001g0126 a0001c0001t0012g0160 a0001c0004t0012g0156 others(2): Show a0001c0001t0001g0126 a0001c0001t0012g0160 a0001c0004t0012g0156 a0007c0017t0002g0019 a0023c0067t0001g0258	5	284	0.0176	178	c.411 others(195): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAG GAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGC GAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29		chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293570	C C	CCACCTTC others(171): Show CCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGC CTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCT GCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGC TCACCTTCCCATCCTCACCTGCCACAGCT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19068.hp2 NA19083.hp1 NA19057.hp2 NA19068.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0164 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0164	3	284	0.0106	178	c.411 others(195): Show c.4112+602_4112+603insAGCTGTGGCAGGTGAGGATGGGAAGGTG AGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGG CAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29		chr14	TogoVar
CCSER2_chr10_84323589_84523517	84501833	A A	ATATATAT others(171): Show ATATATATATATATATATATATATATATATATATATATACTCATATATAT ATATATACTCATATATATATATACTCATATATATATATATACTCATATAT ATATATATTCATATATATATACTCATATATATATATATACTCATATATAT ATATATTCATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	370	0.0027	178	c.232 others(199): Show c.2326-11616_2326-11615insTATATATATATATATATATATATA TATATATATATATACTCATATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATATTCATATATATATACTCA TATATATATATATACTCATATATATATATATTCATATATATATATATATA TATT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		chr10	TogoVar
CDC34_chr19_526760_547087	534553	A A	ACCCTCCC others(171): Show ACCCTCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCTGAGTGCCCT CCCTGTCCAGACCTCACCCACGATCCAAGACCCCCTGTATGCCCTCCCTG TCCAGACCTCGCCCACAATCCAAGACCCCCGAGTACCCTCCCTGTCAAGG CCTCGCCCACGATCCAAGACCCCCGAGTG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03486.hp2 HG03834.hp1 others(12): Show HG02300.hp2 HG03486.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 NA18963.hp2 NA18969.hp2 NA18978.hp2 NA18979.hp1 NA18990.hp1 NA19000.hp1 NA19009.hp2 NA19043.hp2 NA19080.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0026 a0001c0002t0003g0073 others(5): Show a0001c0002t0003g0005 a0001c0002t0003g0026 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078	15	328	0.0457	178	c.178 others(195): Show c.178-1273_178-1272insCAGACCTCGCCCACGATCCAAGACCCCC TGAGTGCCCTCCCTGTCCAGACCTCACCCACGATCCAAGACCCCCTGTAT GCCCTCCCTGTCCAGACCTCGCCCACAATCCAAGACCCCCGAGTACCCTC CCTGTCAAGGCCTCGCCCACGATCCAAGACCCCCGAGTGCCCTCCCTGTC	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	1/4	INFO_REALIGN_3_PRIME	chr19	TogoVar
CDH4_chr20_61247261_61945617	61383153	A A	ATATATAT others(171): Show ATATATATGAATATATGATATATATGAATATGTGATATATATGAATATAT GTGATATATATGAATATATGATATATATGAATATGTGTGATATATAAATA TAGATGAGATATATGGTATATATGATATAGATGAGATATATGAGATATAT ATGATATATAATATATATGAATATATATG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0001 a0005c0019t0001	a0005c0019t0001g0015 a0005c0019t0001g0015	1	106	0.0094	178	c.169 others(199): Show c.169+128216_169+128217insTATATATGAATATATGATATATAT GAATATGTGATATATATGAATATATGTGATATATATGAATATATGATATA TATGAATATGTGTGATATATAAATATAGATGAGATATATGGTATATATGA TATAGATGAGATATATGAGATATATATGATATATAATATATATGAATATA TATG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		chr20	TogoVar
CENPE_chr4_103100811_103203343	103113151	A A	AGTGTATA others(171): Show AGTGTATATATATACTTATAAGTATATAAGTGTATATATATACTTATAAG TATATAAGTGTATATATATACTTATAAGTATATAAGTGTATATATATACT TATAAGTATATAAGTGTATATATATACTTATAAGTATATAAGTGTATATA TAAGTGTATATATATACTTATAAGTATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01496.hp2 others(9): Show HG01070.hp1 HG01071.hp2 HG01496.hp2 HG01891.hp2 HG03017.hp2 HG03490.hp2 HG03492.hp1 HG03942.hp1 NA18972.hp1 NA18986.hp1 NA19079.hp1 NA20905.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0019 a0002c0002 a0012c0019	a0002c0002t0001 a0012c0019t0001 a0002c0002t0001 a0012c0019t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0020 others(7): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0020 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0049 a0002c0002t0001g0052 a0002c0002t0001g0062 a0012c0019t0001g0021	12	320	0.0375	178	c.754 others(197): Show c.7540+1303_7540+1304insATATACTTATAAGTATATATATACAC TTATATATACACTTATATACTTATAAGTATATATATACACTTATATACTT ATAAGTATATATATACACTTATATACTTATAAGTATATATATACACTTAT ATACTTATAAGTATATATATACACTTATATACTTATAAGTATATATATAC AC	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48		chr4	TogoVar

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