Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CCN4_chr8_133186039_133236690	133213929	C C	CTATATAT others(88): Show CTATATATACACTATATATAGTAGTTATATATACTATATATACACTATAT ATAGTTATATATAGTATATATAACTATATATAGTAGTTATATATAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	396	0.0025	95	c.349 others(110): Show c.349+840_349+841insTATATATAGTATATATAACTATATATAGTA GTTATATATAGTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATATATAGT	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CD5_chr11_61097489_61132852	61099478	T T	TTACACAC others(88): Show TTACACACACATCAACATGGAGATCACACACACACATCAACATGGAGATT ACACATACATCAACATGGAGATCACACACACACAACATGGAGATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG00639.hp2 others(93): Show HG00099.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02055.hp2 HG02071.hp2 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03927.hp2 HG03942.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18953.hp2 NA18968.hp2 NA18980.hp2 NA18998.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0011	a0001c0001 a0002c0003 a0002c0004 others(9): Show a0001c0001 a0002c0003 a0002c0004 a0002c0006 a0003c0002 a0005c0008 a0006c0007 a0007c0010 a0008c0014 a0008c0015 a0009c0017 a0011c0012	a0001c0001t0001 a0001c0001t0010 a0002c0003t0002 others(15): Show a0001c0001t0001 a0001c0001t0010 a0002c0003t0002 a0002c0003t0003 a0002c0004t0001 a0002c0004t0004 a0002c0006t0003 a0003c0002t0001 a0003c0002t0006 a0005c0008t0002 a0005c0008t0003 a0005c0008t0012 a0006c0007t0001 a0007c0010t0001 a0008c0014t0004 a0008c0015t0003 a0009c0017t0005 a0011c0012t0003	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0039 others(59): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0130 a0001c0001t0010g0125 a0002c0003t0002g0124 a0002c0003t0003g0007 a0002c0003t0003g0106 a0002c0004t0001g0019 a0002c0004t0001g0102 a0002c0004t0004g0005 a0002c0004t0004g0034 a0002c0004t0004g0035 a0002c0004t0004g0036 a0002c0004t0004g0037 a0002c0004t0004g0038 a0002c0004t0004g0132 a0002c0006t0003g0013 a0002c0006t0003g0020 a0002c0006t0003g0041 a0002c0006t0003g0042 a0002c0006t0003g0047 a0002c0006t0003g0118 a0003c0002t0001g0004 a0003c0002t0001g0009 a0003c0002t0001g0011 a0003c0002t0001g0032 a0003c0002t0001g0040 a0003c0002t0001g0097 a0003c0002t0001g0103 a0003c0002t0001g0119 a0003c0002t0001g0120 a0003c0002t0001g0123 a0003c0002t0001g0126 a0003c0002t0001g0128 a0003c0002t0001g0129 a0003c0002t0001g0133 a0003c0002t0001g0134 a0003c0002t0001g0135 a0003c0002t0006g0008 a0005c0008t0002g0108 a0005c0008t0003g0007 a0005c0008t0003g0031 a0005c0008t0003g0105 a0005c0008t0012g0104 a0006c0007t0001g0111 a0006c0007t0001g0112 a0006c0007t0001g0113 a0006c0007t0001g0114 a0006c0007t0001g0115 a0006c0007t0001g0116 a0006c0007t0001g0117 a0007c0010t0001g0001 a0007c0010t0001g0082 a0007c0010t0001g0110 a0008c0014t0004g0005 a0008c0015t0003g0107 a0009c0017t0005g0048 a0011c0012t0003g0109	96	244	0.3934	95	c.-30 others(106): Show c.-3083_-3082insTACACACACATCAACATGGAGATCACACACACAC ATCAACATGGAGATTACACATACATCAACATGGAGATCACACACACACAA CATGGAGATCA	CD5	ENSG00000110448.11	transcript	ENST00000347785.8	protein_coding		3010		chr11	TogoVar
CDC14A_chr1_100347506_100525277	100412710	A A	ATATATAT others(88): Show ATATATATATTTTATATATATATATTTTATATATATATATTTTATATATA TATATTATATATATATATTATATATATATATTTTATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0295 a0001c0004t0003g0295	1	306	0.0033	95	c.310 others(114): Show c.310-11503_310-11502insTTTATATATATATATTTTATATATAT ATATTTTATATATATATATTATATATATATATTATATATATATATTTTAT ATATATATATTATATATAT	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH4_chr20_61247261_61945617	61383264	G G	GATATATG others(88): Show GATATATGAATATATAATATATATGATATATATGAATATATATCATATAT ATGAGTATATCATATATGAATATATATGAATATATATCATATATGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG02145.hp2 others(8): Show HG01243.hp1 HG01255.hp1 HG02145.hp2 HG02559.hp2 HG02630.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03540.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0031 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0001t0031 a0001c0003t0001 a0001c0003t0043 a0001c0003t0054 a0001c0006t0029 a0002c0002t0005 a0002c0004t0003 a0002c0004t0013	a0001c0001t0001g0006 a0001c0001t0031g0089 a0001c0003t0001g0038 others(8): Show a0001c0001t0001g0006 a0001c0001t0031g0089 a0001c0003t0001g0038 a0001c0003t0043g0081 a0001c0003t0054g0086 a0001c0006t0029g0035 a0002c0002t0005g0022 a0002c0004t0003g0010 a0002c0004t0003g0011 a0002c0004t0003g0034 a0002c0004t0013g0021	11	106	0.1038	95	c.169 others(116): Show c.169+128333_169+128334insGAATATATAATATATATGATATAT ATGAATATATATCATATATATGAGTATATCATATATGAATATATATGAAT ATATATCATATATGAATATAT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CEMIP_chr15_80774370_80956771	80911950	G G	GGATTGCT others(88): Show GGATTGCTGGGAAAGGCTGGGAGAGCTGGGAGAGGCTGGGAGAGCTGGGA GAGGCTGTGATTGCTGGGAGAGGCTGGGAGAGCTGGGAGAGGCTGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03579.hp2 HG02559.hp2 HG03579.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0071 a0001c0007t0003g0132 a0001c0007t0003g0071 a0001c0007t0003g0132	2	254	0.0079	95	c.179 others(114): Show c.1797+2725_1797+2726insCTGGGAGAGGCTGAGATTGCTGGGAA AGGCTGGGAGAGCTGGGAGAGGCTGGGAGAGCTGGGAGAGGCTGTGATTG CTGGGAGAGGCTGGGAGAG	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CENPVL3_chrX_51612020_51623912	51621503	A A	ATTCTTCT others(88): Show ATTCTTCTTCTTCTTCTTCTTCTTCTTCTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	298	0.0034	95	c.-26 others(106): Show c.-2631_-2630insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGAAGAAGAAGAAGAAG AAGAAGAAGAA	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2592		chrX	TogoVar
CERKL_chr2_181531672_181662105	181606406	G G	GAGGGGAG others(88): Show GAGGGGAGAGGAGGGGGAGGGGAGGGGAGAGGAGGGGGAGGGGAGGGGGG AGGAGAGGGTAGGGGAGAAGGGGGAGGGTAGGGTAGGGGAGAGGGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02109.hp2 others(8): Show HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02647.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp2 NA20129.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0007 a0001c0001 a0001c0002 a0005c0007	a0001c0001t0001 a0001c0001t0021 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0021 a0001c0002t0001 a0001c0002t0005 a0005c0007t0008	a0001c0001t0001g0210 a0001c0001t0021g0183 a0001c0002t0001g0060 others(7): Show a0001c0001t0001g0210 a0001c0001t0021g0183 a0001c0002t0001g0060 a0001c0002t0005g0003 a0001c0002t0005g0054 a0001c0002t0005g0058 a0001c0002t0005g0059 a0001c0002t0005g0084 a0001c0002t0005g0090 a0005c0007t0008g0093	11	298	0.0369	95	c.239 others(112): Show c.239-2328_239-2327insACCCTCTCCCCTACCCTACCCTCCCCCT TCTCCCCTACCCTCTCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCC TCCCCCTCCTCTCCCCT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CFAP206_chr6_87402972_87469465	87408455	T T	TGCGCACA others(88): Show TGCGCACACAGATCCGGAGCGCGCACACAGATCCGGAGCGCGCACACAGA TCCGGAGCGCGCACACAGATCCGGAGCGCGCACACAGATCCGGAGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp2 HG02818.hp1 others(5): Show HG02615.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG03017.hp1 HG03041.hp1 HG03516.hp2 HG03579.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0020 a0001c0001 a0013c0020	a0001c0001t0001 a0001c0001t0002 a0013c0020t0001 a0001c0001t0001 a0001c0001t0002 a0013c0020t0001	a0001c0001t0001g0230 a0001c0001t0001g0336 a0001c0001t0001g0337 others(5): Show a0001c0001t0001g0230 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0002g0335 a0013c0020t0001g0341	8	376	0.0213	95	c.-6+ others(108): Show c.-6+427_-6+521dupCACACAGATCCGGAGCGCGCACACAGATCCGG AGCGCGCACACAGATCCGGAGCGCGCACACAGATCCGGAGCGCGCACACA GATCCGGAGCGCG	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP46_chr10_132803392_132947570	132823919	G G	GTGCTGTG others(88): Show GTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGCGCTTGTGTGTGCTGTG TGTGCTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGATGTGTGC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0009 a0009	a0009c0044 a0009c0044	a0009c0044t0001 a0009c0044t0001	a0009c0044t0001g0154 a0009c0044t0001g0154	1	246	0.0041	95	c.711 others(114): Show c.7118-9006_7118-9005insGCACACATCAGCACACATCAGCACTC ACACAGCACACATCAGCACACACAGCACACACAAGCGCACACACAGCACA CATCAGCGCACACACAGCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20355169	A A	AGAGGAGG others(88): Show AGAGGAGGTGGTCACACTGTGAGGGGTGGTCACACTGTGAGGGGAGGTCA CACTGAGGGGAGGTAGTGACACTATGAGCAGAGATGGTCACACTGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03195.hp2 NA18955.hp1 others(3): Show HG03130.hp1 HG03195.hp2 NA18955.hp1 NA18969.hp1 NA19064.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0032	a0001c0001t0001 a0001c0003t0004 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0003t0004 a0002c0002t0001 a0002c0002t0004 a0002c0032t0001	a0001c0001t0001g0178 a0001c0003t0004g0005 a0002c0002t0001g0143 others(3): Show a0001c0001t0001g0178 a0001c0003t0004g0005 a0002c0002t0001g0143 a0002c0002t0001g0186 a0002c0002t0004g0012 a0002c0032t0001g0185	6	236	0.0254	95	c.351 others(114): Show c.3514-5037_3514-5036insAGGTGGTCACACTGTGAGGGGTGGTC ACACTGTGAGGGGAGGTCACACTGAGGGGAGGTAGTGACACTATGAGCAG AGATGGTCACACTGTGAGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356531	G G	GTGAGGGG others(88): Show GTGAGGGGAGGTGGTCACACTGGGGAGGTGGTCACACTGTGAGGGGAGGT GGTCACACTGAGAAGAGGTGGTCACACTGAGGGGAAGTGGTCACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0002 a0008c0016t0002	a0008c0016t0002g0044 a0008c0016t0002g0044	1	236	0.0042	95	c.351 others(114): Show c.3514-3658_3514-3657insGGGAGGTGGTCACACTGTGAGGGGAG GTGGTCACACTGAGAAGAGGTGGTCACACTGAGGGGAAGTGGTCACACTG AGGGGAGGTGGTCACACTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356531	G G	GTGAGGGG others(88): Show GTGAGGGGAGGTGGTCACACTGGGGAGGTGGTCACACTGTGAGGGGAGGT GGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0006 a0009c0014t0006	a0009c0014t0006g0007 a0009c0014t0006g0007	1	236	0.0042	95	c.351 others(114): Show c.3514-3658_3514-3657insGGGAGGTGGTCACACTGTGAGGGGAG GTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTG AGGGGAGGTGGTCACACTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFI_chr4_109735695_109806999	109756934	A A	AAAGAAAG others(88): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0315 a0002c0003t0001g0315	1	354	0.0028	95	c.904 others(110): Show c.904+828_904+829insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CHRNB4_chr15_78619111_78646210	78632274	T T	TCTTTCTT others(88): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	416	0.0024	95	c.205 others(110): Show c.205-943_205-942insGGAGAAAGAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAG	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding	2/5			chr15	TogoVar
CIR1_chr2_174343022_174400712	174354575	T T	TATATATA others(88): Show TATATATATTATATTATATATATTTTATATATTATATGATATATTATATA TATCATATAATATATATTATATTATATATATTTTATATATTATATG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	348	0.0029	95	c.485 others(112): Show c.485-2851_485-2850insCATATAATATATAAAATATATATAATAT AATATATATTATATGATATATATAATATATCATATAATATATAAAATATA TATAATATAATATATAT	CIR1	ENSG00000138433.16	transcript	ENST00000342016.8	protein_coding	7/9			chr2	TogoVar
CLN6_chr15_68201992_68234728	68229767	A A	AGGGAGGC others(88): Show AGGGAGGCGGGGCGGAGGGAGGCGGGGCGGAGGGAGGCGGGGCGGAGGGA GGCGGGGCGGAGGGAGGCGGGGCGGAGGGAGGCGGGGCGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	324	0.0031	95	c.-18 others(104): Show c.-184_-183insCTCCCTCCGCCCCGCCTCCCTCCGCCCCGCCTCCCT CCGCCCCGCCTCCCTCCGCCCCGCCTCCCTCCGCCCCGCCTCCCTCCGCC CCGCCTCCC	CLN6	ENSG00000128973.13	transcript	ENST00000249806.11	protein_coding		40		chr15	TogoVar
CLN8_chr8_1758789_1791570	1763612	C C	CCCCGCCG others(88): Show CCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCCGCCGCGCCCCG CCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCGCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	413	0.0024	95	c.-39 others(104): Show c.-397_-396insCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC CCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCC CGCCCCCCG	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		176		chr8	TogoVar
CLTCL1_chr22_19174473_19296719	19291824	G G	GCCCCCGC others(88): Show GCCCCCGCCTCTGCCCCGCCCCTGCCCCCGCCTCTGCCCCGCCCCTGCCC CCGCCTCTGCCCCGCCCCTGCCCCCGCCTCTGCCCCGCCCCTGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02258.hp2 others(13): Show HG01109.hp2 HG01884.hp2 HG02258.hp2 HG02486.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA18906.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0021	a0001c0004 a0001c0031 a0002c0001 others(3): Show a0001c0004 a0001c0031 a0002c0001 a0003c0005 a0009c0020 a0021c0018	a0001c0004t0004 a0001c0031t0001 a0002c0001t0002 others(3): Show a0001c0004t0004 a0001c0031t0001 a0002c0001t0002 a0003c0005t0001 a0009c0020t0001 a0021c0018t0001	a0001c0004t0004g0118 a0001c0031t0001g0103 a0002c0001t0002g0110 others(13): Show a0001c0004t0004g0118 a0001c0031t0001g0103 a0002c0001t0002g0110 a0002c0001t0002g0111 a0002c0001t0002g0112 a0002c0001t0002g0113 a0002c0001t0002g0114 a0002c0001t0002g0115 a0002c0001t0002g0116 a0003c0005t0001g0104 a0003c0005t0001g0105 a0003c0005t0001g0106 a0003c0005t0001g0107 a0003c0005t0001g0108 a0009c0020t0001g0109 a0021c0018t0001g0117	16	346	0.0462	95	c.-18 others(104): Show c.-184_-183insGGGCAGGGGCGGGGCAGAGGCGGGGGCAGGGGCGGG GCAGAGGCGGGGGCAGGGGCGGGGCAGAGGCGGGGGCAGGGGCGGGGCAG AGGCGGGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding		106		chr22	TogoVar
CNBD1_chr8_86861415_87387859	87136769	T T	TTTATATT others(88): Show TTTATATTATATATAAATATATATATTTATATTATATATAAATATATATA TTTATATTATATATAAATATATATATTTATATATAATATAAATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0036 a0007c0011t0001g0036	1	152	0.0066	95	c.432 others(114): Show c.432-69223_432-69222insTATATTATATATAAATATATATATTT ATATTATATATAAATATATATATTTATATTATATATAAATATATATATTT ATATATAATATAAATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136798	T T	TTTATATT others(88): Show TTTATATTATATATAAATATATATATTTATATTATATATAAATATATATA TTTATATTATATATAAATATATATATTTATATTATATATAAATATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	152	0.0066	95	c.432 others(114): Show c.432-69194_432-69193insTATATTATATATAAATATATATATTT ATATTATATATAAATATATATATTTATATTATATATAAATATATATATTT ATATTATATATAAATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNFN_chr19_42382019_42395297	42388019	A A	AGGGGGGG others(88): Show AGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	276	0.0036	95	c.113 others(110): Show c.113-544_113-543insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCACCCCCCCC	CNFN	ENSG00000105427.10	transcript	ENST00000222032.10	protein_coding	2/3			chr19	TogoVar
CNKSR3_chr6_154382515_154515685	154505104	A A	ACGAGGGG others(88): Show ACGAGGGGGAGGAGGAGAGGTAGGGGGTACCGGGAGGGAGGGGGGACGGG AGAGGAGAGTAGGGGGAGCTAGGGCTGTAGCAATGTCGTTAGTCCG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0288 a0001c0002t0022g0288	1	342	0.0029	95	c.52+ others(110): Show c.52+4958_52+4959insCGGACTAACGACATTGCTACAGCCCTAGCT CCCCCTACTCTCCTCTCCCGTCCCCCCTCCCTCCCGGTACCCCCTACCTC TCCTCCTCCCCCTCG	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	1/12			chr6	TogoVar
COL18A1_chr21_45400165_45518720	45498442	G G	GCCAGGGT others(88): Show GCCAGGGTCCCCTCTCGCCACCACGGTCCCCTCTCGCCGCCAGGGTCCCC TCTCGCCGCCAGGGTCCCCTCTCGCCGCCACGGTCCCCTCTCGCCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0045 a0003c0045	a0003c0045t0001 a0003c0045t0001	a0003c0045t0001g0002 a0003c0045t0001g0002	1	292	0.0034	95	c.268 others(112): Show c.2683+799_2683+800insACCACGGTCCCCTCTCGCCGCCAGGGTC CCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCACGGTCCCCTCTCGCCAC CAGGGTCCCCTCTCGCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110255806	A A	AGGGGAAA others(88): Show AGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02004.hp2 HG01952.hp2 HG02004.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0309 a0002c0011t0002g0310 a0002c0011t0002g0309 a0002c0011t0002g0310	2	344	0.0058	95	c.85- others(112): Show c.85-13073_85-13072insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255806	A A	AGGGGGAA others(88): Show AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19004.hp2 NA18945.hp1 NA19004.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0158 a0001c0003t0001g0159	2	344	0.0058	95	c.85- others(112): Show c.85-13073_85-13072insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355315	C C	CTGTTTGT others(88): Show CTGTTTGTGTGGGGAGGGCTGCAGTAGCTCAACTGTGTGTGGGGGAGGGC TGCACTAGCTCACCTGTGTGGGGGGAGGGCTGTACTAGCTCACCTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0071 a0003c0071	a0003c0071t0001 a0003c0071t0001	a0003c0071t0001g0209 a0003c0071t0001g0209	1	372	0.0027	95	c.100 others(112): Show c.100-2154_100-2153insTTGTGTGGGGAGGGCTGCAGTAGCTCAA CTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGGGGGGAGGGCTG TACTAGCTCACCTGTGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134759405	C C	CCCCACAC others(88): Show CCCCACACCCCCACACTCATACACACATGCATACATGCACACACACACAC CCACATTCATACACATATGCACACACACCACACATGCACACATACG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0233 a0001c0001t0009g0233	1	272	0.0037	95	c.193 others(114): Show c.1935+1110_1935+1111insCCACACCCCCACACTCATACACACAT GCATACATGCACACACACACACCCACATTCATACACATATGCACACACAC CACACATGCACACATACGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134759408	C C	CACACCCC others(88): Show CACACCCCCACACTCATACACACATGCATACATGCACACACACACACCCA CATTCATACACATATGCACACACACCACACATGCACACATACGCAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01167.hp2 others(13): Show HG00140.hp1 HG00741.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02723.hp2 HG02735.hp2 HG03516.hp1 HG04199.hp1 HG04204.hp1 NA19043.hp1 NA19240.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0034 a0001c0047 a0013c0046	a0001c0001t0001 a0001c0001t0004 a0001c0003t0008 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0008 a0001c0003t0015 a0001c0004t0002 a0001c0004t0018 a0001c0006t0019 a0001c0007t0004 a0001c0007t0017 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0034t0006 a0001c0047t0057 a0013c0046t0043	a0001c0001t0001g0147 a0001c0001t0004g0102 a0001c0003t0008g0187 others(13): Show a0001c0001t0001g0147 a0001c0001t0004g0102 a0001c0003t0008g0187 a0001c0003t0015g0188 a0001c0004t0002g0046 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0006t0019g0264 a0001c0007t0004g0028 a0001c0007t0017g0241 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0086 a0001c0034t0006g0048 a0001c0047t0057g0042 a0013c0046t0043g0037	16	272	0.0588	95	c.193 others(114): Show c.1935+1116_1935+1117insCCCCACACTCATACACACATGCATAC ATGCACACACACACACCCACATTCATACACATATGCACACACACCACACA TGCACACATACGCATACAC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134828659	C C	CAGATACA others(88): Show CAGATACACATCACACACAACATGCACCACACATACCACACAGATACATA CCACACCCACACACACGATATACACCACACATCACATACCACACGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG02145.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0009 a0001c0007t0017 a0001c0001t0009 a0001c0007t0017	a0001c0001t0009g0233 a0001c0007t0017g0241 a0001c0001t0009g0233 a0001c0007t0017g0241	2	272	0.0074	95	c.506 others(114): Show c.5068-1316_5068-1315insGATACACATCACACACAACATGCACC ACACATACCACACAGATACATACCACACCCACACACACGATATACACCAC ACATCACATACCACACGGA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134828659	C C	CAGATACA others(88): Show CAGATACACATCACACACAACATGCACCACACATACCACACAGATACATA CTACACCCACACACACGATATACACCACACATCACACACCACACAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(172): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp1 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0013 a0016 a0017 a0020 a0021	a0001c0001 a0001c0002 a0001c0003 others(50): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0017 a0001c0019 a0001c0020 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0034 a0001c0035 a0001c0036 a0001c0048 a0001c0049 a0001c0053 a0001c0054 a0001c0062 a0001c0063 a0001c0065 a0001c0068 a0001c0069 a0001c0071 a0001c0072 a0002c0013 a0002c0015 a0003c0018 a0003c0041 a0003c0042 a0003c0067 a0004c0030 a0005c0074 a0007c0066 a0008c0052 a0009c0040 a0013c0046 a0016c0064 a0017c0061 a0020c0044 a0021c0070	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(113): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0001c0001t0027 a0001c0001t0031 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0011 a0001c0002t0013 a0001c0002t0016 a0001c0002t0042 a0001c0002t0056 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 a0001c0003t0014 a0001c0003t0021 a0001c0003t0028 a0001c0003t0032 a0001c0003t0044 a0001c0003t0049 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0030 a0001c0004t0033 a0001c0005t0009 a0001c0005t0050 a0001c0005t0054 a0001c0006t0001 a0001c0006t0004 a0001c0006t0007 a0001c0006t0010 a0001c0006t0019 a0001c0006t0047 a0001c0006t0048 a0001c0007t0001 a0001c0007t0004 a0001c0007t0006 a0001c0007t0014 a0001c0007t0023 a0001c0008t0001 a0001c0008t0002 a0001c0008t0011 a0001c0009t0001 a0001c0009t0003 a0001c0010t0001 a0001c0010t0003 a0001c0011t0001 a0001c0011t0003 a0001c0011t0007 a0001c0012t0051 a0001c0014t0001 a0001c0014t0046 a0001c0016t0008 a0001c0017t0001 a0001c0019t0001 a0001c0019t0002 a0001c0020t0001 a0001c0020t0002 a0001c0022t0002 a0001c0023t0001 a0001c0023t0017 a0001c0024t0008 a0001c0025t0041 a0001c0026t0001 a0001c0027t0004 a0001c0027t0038 a0001c0034t0006 a0001c0035t0010 a0001c0036t0006 a0001c0048t0004 a0001c0049t0001 a0001c0053t0012 a0001c0054t0003 a0001c0062t0001 a0001c0063t0002 a0001c0065t0002 a0001c0068t0004 a0001c0069t0013 a0001c0071t0019 a0001c0072t0003 a0002c0013t0003 a0002c0013t0021 a0002c0015t0003 a0003c0018t0001 a0003c0041t0001 a0003c0042t0001 a0003c0067t0040 a0004c0030t0001 a0005c0074t0001 a0007c0066t0001 a0008c0052t0009 a0009c0040t0001 a0013c0046t0043 a0016c0064t0034 a0017c0061t0002 a0020c0044t0002 a0021c0070t0002	a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0041 others(171): Show a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0088 a0001c0001t0001g0147 a0001c0001t0002g0069 a0001c0001t0002g0079 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0122 a0001c0001t0002g0139 a0001c0001t0002g0227 a0001c0001t0002g0245 a0001c0001t0003g0133 a0001c0001t0003g0146 a0001c0001t0004g0102 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0055 a0001c0001t0005g0119 a0001c0001t0005g0155 a0001c0001t0006g0110 a0001c0001t0007g0248 a0001c0001t0008g0260 a0001c0001t0009g0109 a0001c0001t0010g0098 a0001c0001t0011g0229 a0001c0001t0012g0242 a0001c0001t0020g0194 a0001c0001t0027g0210 a0001c0001t0031g0075 a0001c0001t0059g0093 a0001c0002t0001g0018 a0001c0002t0001g0035 a0001c0002t0001g0050 a0001c0002t0001g0058 a0001c0002t0001g0115 a0001c0002t0001g0148 a0001c0002t0001g0177 a0001c0002t0001g0209 a0001c0002t0001g0236 a0001c0002t0001g0254 a0001c0002t0002g0030 a0001c0002t0002g0056 a0001c0002t0002g0096 a0001c0002t0002g0124 a0001c0002t0002g0126 a0001c0002t0002g0160 a0001c0002t0002g0171 a0001c0002t0003g0083 a0001c0002t0003g0154 a0001c0002t0005g0025 a0001c0002t0005g0059 a0001c0002t0005g0060 a0001c0002t0005g0065 a0001c0002t0005g0117 a0001c0002t0005g0211 a0001c0002t0011g0095 a0001c0002t0013g0140 a0001c0002t0013g0168 a0001c0002t0016g0237 a0001c0002t0042g0185 a0001c0002t0056g0162 a0001c0003t0001g0123 a0001c0003t0001g0153 a0001c0003t0001g0196 a0001c0003t0001g0205 a0001c0003t0001g0222 a0001c0003t0002g0001 a0001c0003t0002g0142 a0001c0003t0002g0246 a0001c0003t0003g0201 a0001c0003t0004g0038 a0001c0003t0004g0262 a0001c0003t0005g0070 a0001c0003t0008g0187 a0001c0003t0010g0039 a0001c0003t0010g0259 a0001c0003t0014g0247 a0001c0003t0021g0169 a0001c0003t0028g0135 a0001c0003t0032g0004 a0001c0003t0044g0186 a0001c0003t0049g0158 a0001c0004t0001g0225 a0001c0004t0002g0046 a0001c0004t0002g0052 a0001c0004t0002g0172 a0001c0004t0003g0064 a0001c0004t0003g0145 a0001c0004t0030g0253 a0001c0004t0033g0131 a0001c0005t0009g0256 a0001c0005t0050g0271 a0001c0005t0054g0167 a0001c0006t0001g0108 a0001c0006t0004g0011 a0001c0006t0004g0184 a0001c0006t0007g0103 a0001c0006t0010g0031 a0001c0006t0019g0264 a0001c0006t0047g0019 a0001c0006t0048g0047 a0001c0007t0001g0195 a0001c0007t0004g0028 a0001c0007t0006g0002 a0001c0007t0014g0044 a0001c0007t0023g0232 a0001c0008t0001g0087 a0001c0008t0001g0114 a0001c0008t0001g0149 a0001c0008t0002g0092 a0001c0008t0011g0091 a0001c0009t0001g0198 a0001c0009t0003g0261 a0001c0010t0001g0005 a0001c0010t0001g0006 a0001c0010t0003g0068 a0001c0011t0001g0191 a0001c0011t0001g0206 a0001c0011t0003g0143 a0001c0011t0007g0027 a0001c0012t0051g0086 a0001c0014t0001g0022 a0001c0014t0046g0020 a0001c0016t0008g0179 a0001c0016t0008g0182 a0001c0017t0001g0214 a0001c0019t0001g0181 a0001c0019t0002g0159 a0001c0020t0001g0014 a0001c0020t0002g0113 a0001c0022t0002g0054 a0001c0023t0001g0207 a0001c0023t0017g0180 a0001c0024t0008g0203 a0001c0025t0041g0036 a0001c0026t0001g0130 a0001c0027t0004g0213 a0001c0027t0038g0138 a0001c0034t0006g0048 a0001c0035t0010g0238 a0001c0036t0006g0190 a0001c0048t0004g0104 a0001c0049t0001g0239 a0001c0053t0012g0226 a0001c0054t0003g0183 a0001c0062t0001g0084 a0001c0063t0002g0024 a0001c0065t0002g0127 a0001c0068t0004g0240 a0001c0069t0013g0178 a0001c0071t0019g0010 a0001c0072t0003g0009 a0002c0013t0003g0061 a0002c0013t0003g0076 a0002c0013t0021g0071 a0002c0015t0003g0118 a0002c0015t0003g0163 a0002c0015t0003g0223 a0003c0018t0001g0166 a0003c0041t0001g0121 a0003c0042t0001g0136 a0003c0067t0040g0192 a0004c0030t0001g0268 a0005c0074t0001g0094 a0007c0066t0001g0120 a0008c0052t0009g0189 a0009c0040t0001g0057 a0013c0046t0043g0037 a0016c0064t0034g0151 a0017c0061t0002g0074 a0020c0044t0002g0164 a0021c0070t0002g0072	175	272	0.6434	95	c.506 others(114): Show c.5068-1316_5068-1315insGATACACATCACACACAACATGCACC ACACATACCACACAGATACATACTACACCCACACACACGATATACACCAC ACATCACACACCACACAGA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134828659	C C	CAGATACA others(88): Show CAGATACACATCACACACAACATGCACCACACATACCACACAGATACATA CTACACCCACACACATGATATACACCACACATCACACACCACACAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	272	0.0037	95	c.506 others(114): Show c.5068-1316_5068-1315insGATACACATCACACACAACATGCACC ACACATACCACACAGATACATACTACACCCACACACATGATATACACCAC ACATCACACACCACACAGA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134828659	C C	CAGATACA others(88): Show CAGATACACATCACATACAACATGCACCACACATACCACACAGATACATA CTACACCCACACACACGATATACACCACACATCACACACCACACAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0080 a0001c0004t0011g0080	1	272	0.0037	95	c.506 others(114): Show c.5068-1316_5068-1315insGATACACATCACATACAACATGCACC ACACATACCACACAGATACATACTACACCCACACACACGATATACACCAC ACATCACACACCACACAGA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A2_chr21_46093112_46137848	46135805	C C	CCCCTCCC others(88): Show CCCCTCCCCAGCGTTCCCTCCCAGCCTCCCCTCCCCAGCGTTCCCTCCCA GCCTCCCCTCCCCAGCGTTCCCTCCCAGCCTCCCCTCCCCAGCGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02145.hp1 NA18971.hp1 others(1): Show HG00438.hp2 HG02145.hp1 NA18971.hp1 NA18977.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0012 a0004c0005 a0001c0002 a0002c0012 a0004c0005	a0001c0002t0002 a0002c0012t0001 a0004c0005t0001 a0001c0002t0002 a0002c0012t0001 a0004c0005t0001	a0001c0002t0002g0252 a0002c0012t0001g0026 a0004c0005t0001g0099 others(1): Show a0001c0002t0002g0252 a0002c0012t0001g0026 a0004c0005t0001g0099 a0004c0005t0001g0204	4	364	0.0110	95	c.32 others(106): Show c.3253_*3254insCCCTCCCCAGCGTTCCCTCCCAGCCTCCCCTCCC CAGCGTTCCCTCCCAGCCTCCCCTCCCCAGCGTTCCCTCCCAGCCTCCCC TCCCCAGCGTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2958		chr21	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(88): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGAGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	412	0.0024	95	c.630 others(110): Show c.630+162_630+163insAGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGC TCCGGCGGGAGGGAG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825154	A A	AGGGAGGG others(88): Show AGGGAGGGGCTGGGCTCCGGCAGGAGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGGGGGAGGGGCTGGGCTCCGGCGGGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0221 a0001c0013t0002g0221	1	412	0.0024	95	c.630 others(110): Show c.630+153_630+154insAGGAGGGAGGGGCTGGGCTCCGGCGGGGGG GAGGGGCTGGGCTCCGGCGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAG GGGCTGGGCTCCGGC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825154	A A	AGGGAGGG others(88): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGCGGGGAGGGGCTGGGCTCCGGCGGGG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19005.hp2 NA18612.hp2 NA19005.hp2	a0001 a0044 a0001 a0044	a0001c0006 a0044c0087 a0001c0006 a0044c0087	a0001c0006t0001 a0044c0087t0001 a0001c0006t0001 a0044c0087t0001	a0001c0006t0001g0164 a0044c0087t0001g0165 a0001c0006t0001g0164 a0044c0087t0001g0165	2	412	0.0049	95	c.630 others(110): Show c.630+179_630+180insGGGGGAGGGGCTGGGCTCCGGCGCGGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825154	A A	AGGGAGGG others(88): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGGGGGAGGGGCTGGGCTCCGGCGGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG01099.hp1 others(51): Show HG00280.hp2 HG00323.hp1 HG01099.hp1 HG01175.hp2 HG01361.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02056.hp1 HG02145.hp1 HG02257.hp1 HG02273.hp1 HG02602.hp2 HG03239.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18947.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18963.hp2 NA18967.hp1 NA18973.hp1 NA18975.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA19010.hp1 NA19010.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19067.hp1 NA19080.hp2 NA19082.hp2 NA19088.hp2 NA19089.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0008 a0015 others(1): Show a0001 a0008 a0015 a0051	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0001c0013 a0008c0056 a0015c0028 a0051c0067	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0005t0001 a0001c0012t0002 a0001c0013t0002 a0008c0056t0001 a0015c0028t0001 a0051c0067t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0266 a0001c0001t0003g0179 a0001c0001t0003g0184 a0001c0001t0003g0192 a0001c0001t0007g0172 a0001c0002t0001g0001 a0001c0002t0001g0024 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0189 a0001c0002t0001g0196 a0001c0002t0001g0223 a0001c0002t0001g0225 a0001c0002t0001g0247 a0001c0002t0001g0261 a0001c0005t0001g0190 a0001c0012t0002g0039 a0001c0013t0002g0008 a0008c0056t0001g0009 a0015c0028t0001g0188 a0051c0067t0001g0193	54	412	0.1311	95	c.630 others(110): Show c.630+179_630+180insGGGGGAGGGGCTGGGCTCCGGCGGGGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825154	A A	AGGGAGGG others(88): Show AGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGGGGGAGGGGCTGGGCTCCGGCGGGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02738.hp2 HG03453.hp1 HG02055.hp2 HG02738.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0006 a0001c0010t0004 a0001c0001t0001 a0001c0001t0006 a0001c0010t0004	a0001c0001t0001g0166 a0001c0001t0006g0259 a0001c0010t0004g0258 a0001c0001t0001g0166 a0001c0001t0006g0259 a0001c0010t0004g0258	3	412	0.0073	95	c.630 others(110): Show c.630+156_630+157insGGGGAGGGGCTGGGCTCCGGCGGGGGGGAG GGGCTGGGCTCCGGCGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGG CTGGGCTCCGGCGGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COLEC11_chr2_3590112_3649644	3591066	C C	CGGCCGGA others(88): Show CGGCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	378	0.0027	95	c.-41 others(106): Show c.-4129_-4128insGGCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCT	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		4045		chr2	TogoVar
COLEC12_chr18_311737_505701	312644	C C	CCACTGAA others(88): Show CCACTGAAGTCTCCACAGGAGGGCAAGGTGGACAATCTGTCCCATAGGAG GGGGATTCATGAGGGGAGCTGTGAGAATGGAGCCAGTAATTAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0195 a0015c0024t0195	a0015c0024t0195g0140 a0015c0024t0195g0140	1	366	0.0027	95	c.74 others(106): Show c.7400_*7401insAATTTAATTACTGGCTCCATTCTCACAGCTCCCC TCATGAATCCCCCTCCTATGGGACAGATTGTCCACCTTGCCCTCCTGTGG AGACTTCAGTG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4092		chr18	TogoVar
COMMD10_chr5_116080025_116298287	116158496	C C	CTCCCTCT others(88): Show CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTCCTCTCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	350	0.0029	95	c.510 others(114): Show c.510+24318_510+24319insTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCT CCGTCTCCTCTCTCCCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(88): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAGAAGGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0182 a0001c0002t0001g0182	1	330	0.0030	95	c.735 others(110): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(88): Show GCCCCGCCCCCCTCCACACCGGGACCTGCCCCCCGCCCACCCGGAGGAGG AACCAGGCCAGATACCTGGAGTCCCCCCCGCCGCCCCTGCCCCCGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03225.hp2 HG03834.hp2 others(1): Show HG00639.hp2 HG03225.hp2 HG03834.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0006 a0001c0001t0001 a0001c0007t0006	a0001c0001t0001g0101 a0001c0001t0001g0172 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0101 a0001c0001t0001g0172 a0001c0001t0001g0183 a0001c0007t0006g0071	4	348	0.0115	95	c.927 others(110): Show c.927+238_927+239insCTCCACACCGGGACCTGCCCCCCGCCCACC CGGAGGAGGAACCAGGCCAGATACCTGGAGTCCCCCCCGCCGCCCCTGCC CCCGCCCCCGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587883	A A	AGCCACAG others(88): Show AGCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGT GTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01168.hp2 others(11): Show HG01070.hp2 HG01071.hp1 HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01261.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02148.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0002c0005 others(1): Show a0001c0001 a0001c0004 a0002c0005 a0006c0019	a0001c0001t0001 a0001c0004t0002 a0002c0005t0002 others(1): Show a0001c0001t0001 a0001c0004t0002 a0002c0005t0002 a0006c0019t0002	a0001c0001t0001g0248 a0001c0004t0002g0003 a0001c0004t0002g0072 others(7): Show a0001c0001t0001g0248 a0001c0004t0002g0003 a0001c0004t0002g0072 a0001c0004t0002g0193 a0001c0004t0002g0240 a0001c0004t0002g0247 a0001c0004t0002g0250 a0002c0005t0002g0001 a0002c0005t0002g0314 a0006c0019t0002g0246	14	348	0.0402	95	c.927 others(110): Show c.927+781_927+782insGCCACAGATACACGGCCCCCCGTGTCACCC ACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAG CCACAGATACACGGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588128	A A	ACCCACAG others(88): Show ACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGT GTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0227 a0001c0002t0004g0227	1	348	0.0029	95	c.928 others(110): Show c.928-544_928-543insACAGATACACGGCCCCCGTGTCACCCACAG ATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCA CAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588202	A A	AGCCACAG others(88): Show AGCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGT GTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0315 a0002c0005t0002g0315	1	348	0.0029	95	c.928 others(110): Show c.928-473_928-472insGCCACAGATACACGGCCCCCCGTGTCACCC ACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAG CCACAGATACACGGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPT1C_chr19_49686116_49718731	49702143	A A	ATATTTAT others(88): Show ATATTTATTTATTTATAAATTATAAATAAATATATATTTATTTATAAATT ATAAATAAATATATATTTATTTATAAATTATAAATAAATATATATT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp2 HG02257.hp1 others(1): Show HG01255.hp1 HG01884.hp2 HG02257.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0122 a0001c0001t0001g0123 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125	4	350	0.0114	95	c.693 others(110): Show c.693+520_693+521insTTATAAATTATAAATAAATATATATTTATT TATAAATTATAAATAAATATATATTTATTTATAAATTATAAATAAATATA TATTTATTTATTTAT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPXM2_chr10_123740639_123896807	123881225	A A	ACCCTCCC others(88): Show ACCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT TCCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp1 HG01106.hp2 others(14): Show HG00140.hp1 HG01071.hp1 HG01106.hp2 HG01261.hp1 HG01515.hp1 HG01516.hp2 HG02630.hp1 HG02965.hp1 HG03209.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG04115.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0008t0002 a0001c0010t0001	a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0244 others(14): Show a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0002g0262 a0001c0001t0002g0281 a0001c0001t0005g0261 a0001c0001t0009g0245 a0001c0003t0001g0243 a0001c0004t0001g0242 a0001c0005t0001g0267 a0001c0008t0002g0255 a0001c0010t0001g0246	17	288	0.0590	95	c.305 others(110): Show c.305-917_305-916insAAGGGGAGGGGAGGGGAGGGGAGGGAAGGG GAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGG	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13			chr10	TogoVar
CPXM2_chr10_123740639_123896807	123881225	A A	ACCCTCCC others(88): Show ACCCTCCCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCT TCCCTCCCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0270 a0001c0002t0008g0270	1	288	0.0035	95	c.305 others(110): Show c.305-917_305-916insAAGGGGAGGGGAGGGGAGGGAAGGGGAGGG GAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGGGGAGGGAAGGGGAGGG GAGGGGAGGGGAGGG	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13			chr10	TogoVar
CRTC3_chr15_90524923_90650345	90647237	C C	CCCTCCTC others(88): Show CCCTCCTCCTCAATCCTCCTCCACACCCCTCCAAATTCCACAGCCCTCCT CCACCTCTACACCCACTGCTCCTCCACAATCCTCCTCCACACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03540.hp1 HG03516.hp1 HG03540.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0165 a0004c0005t0001g0084 a0001c0001t0001g0165 a0004c0005t0001g0084	2	276	0.0073	95	c.50 others(106): Show c.5097_*5098insCCTCCTCCTCAATCCTCCTCCACACCCCTCCAAA TTCCACAGCCCTCCTCCACCTCTACACCCACTGCTCCTCCACAATCCTCC TCCACACCCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1893		chr15	TogoVar

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