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
CLSTN3_chr12_7125371_7163945	7148156	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp2 NA18941.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0209 a0001c0001t0001g0001 a0001c0001t0001g0209	2	87	0.0230	24	c.184 others(41): Show c.1848-780_1848-757dupGAAAGAAAGAAAGAAAGAAAGAAA	CLSTN3	ENSG00000139182.15	transcript	ENST00000266546.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
CLTA_chr9_36185921_36217059	36216327	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01243.hp2 HG01257.hp2 others(29): Show HG00099.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01496.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02486.hp1 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02965.hp2 HG03041.hp2 HG03195.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03942.hp1 HG06807.hp1 NA18944.hp2 NA18951.hp1 NA18955.hp1 NA18978.hp2 NA18993.hp2 NA19081.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0024 others(21): Show a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0001t0002g0012 a0001c0001t0002g0050 a0001c0001t0002g0159 a0001c0001t0002g0168 a0001c0002t0003g0016	32	157	0.2038	24	c.45 others(35): Show c.4553_*4554insTGTGTGTGTGTGTGTGTGTGTGTG	CLTA	ENSG00000122705.18	transcript	ENST00000345519.10	protein_coding		4269		chr9	TogoVar
CLYBL_chr13_99601690_99897570	99794581	T T	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01978.hp1 HG02056.hp1 others(9): Show HG00140.hp2 HG01978.hp1 HG02056.hp1 HG02080.hp2 HG02486.hp2 HG02896.hp1 HG03669.hp2 HG04204.hp1 HG06807.hp1 NA19012.hp2 NA19030.hp1 NA19085.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0008	a0001c0001 a0003c0003 a0004c0004 others(2): Show a0001c0001 a0003c0003 a0004c0004 a0005c0006 a0008c0010	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 others(2): Show a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001 a0008c0010t0001	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0120 others(9): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0120 a0001c0001t0001g0148 a0001c0001t0001g0197 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0003c0003t0001g0181 a0004c0004t0001g0211 a0005c0006t0001g0108 a0008c0010t0001g0074	12	46	0.2609	24	c.249 others(43): Show c.249+21574_249+21597dupATTATTATTATTATTATTATTATT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99797560	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp2 NA19002.hp2 others(2): Show HG02647.hp2 HG03139.hp2 NA19002.hp2 NA19058.hp1 NA19085.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0031 a0001c0001t0001g0089 a0001c0001t0001g0095 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0126 a0004c0004t0001g0025	5	38	0.1316	24	c.249 others(43): Show c.249+24558_249+24581dupGTGTGTGTGTGTGTGTGTGTGTGT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99819465	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0143 a0001c0001t0001g0147	2	120	0.0167	24	c.250 others(43): Show c.250-39393_250-39392insTATATATATATATATATATAAATA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CMC1_chr3_28236619_28330142	28258060	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0254 a0001c0001t0010g0254	1	82	0.0122	24	c.20- others(39): Show c.20-5228_20-5205dupTATATATATATATATATATATATA	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC2_chr16_80961448_81011885	80971562	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0057 a0002c0002t0050g0057	1	281	0.0036	24	c.45 others(35): Show c.4530_*4531insTATATATATATATATATATATATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	4/4	4530		chr16	TogoVar
CMC2_chr16_80961448_81011885	80971599	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0010 a0001c0001t0014g0010	1	365	0.0027	24	c.44 others(35): Show c.4493_*4494insATATATATATATATATATATATAT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	4/4	4493		chr16	TogoVar
CMIP_chr16_81439808_81716762	81500256	G G	GTCCGTCC others(17): Show GTCCGTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0238 a0001c0001t0007g0238	1	256	0.0039	24	c.300 others(43): Show c.300+54718_300+54719insGTCCTTCCTTCCTTCCTTCCTTCC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81500256	G G	GTCCTTCC others(17): Show GTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	256	0.0039	24	c.300 others(43): Show c.300+54730_300+54731insTTCCTTCCTTCCTTCCTTCCTTCC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81500272	G G	GTCCGTCC others(17): Show GTCCGTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0074 a0001c0001t0048g0074	1	24	0.0417	24	c.300 others(43): Show c.300+54734_300+54735insGTCCTTCCTTCCTTCCTTCCTTCC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81500272	G G	GTCCTTCC others(17): Show GTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00621.hp2 others(19): Show HG00544.hp1 HG00609.hp2 HG00621.hp2 HG01257.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp2 HG02056.hp2 HG02071.hp1 HG02135.hp2 HG02257.hp2 HG02723.hp1 HG02970.hp2 HG03017.hp1 HG03704.hp1 HG03834.hp2 NA18906.hp1 NA18943.hp1 NA19010.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0032 a0001c0001t0044 a0001c0002t0004 a0002c0004t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0079 others(19): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0079 a0001c0001t0001g0099 a0001c0001t0001g0137 a0001c0001t0001g0258 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0003g0020 a0001c0001t0004g0160 a0001c0001t0007g0251 a0001c0001t0008g0081 a0001c0001t0009g0076 a0001c0001t0018g0017 a0001c0001t0020g0001 a0001c0001t0026g0113 a0001c0001t0027g0101 a0001c0001t0032g0156 a0001c0001t0044g0214 a0001c0002t0004g0162 a0002c0004t0001g0259	22	45	0.4889	24	c.300 others(43): Show c.300+54740_300+54763dupTCCTTCCTTCCTTCCTTCCTTCCT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81500301	T T	TCCTTCCT others(17): Show TCCTTCCTTCCTGCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0191 a0001c0001t0025g0191	1	257	0.0039	24	c.300 others(43): Show c.300+54763_300+54764insTCCTTCCTGCCTCCCTCCCTCCCT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81520569	G G	GGAGAGAG others(17): Show GGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	81	0.0123	24	c.300 others(43): Show c.300+75039_300+75062dupGAGAGAGAGAGAGAGAGAGAGAGA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81598968	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18983.hp2 HG00544.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0248 a0001c0001t0008g0081 a0001c0001t0002g0248 a0001c0001t0008g0081	2	151	0.0132	24	c.301 others(41): Show c.301-8577_301-8576insAAAAAAAAAAAAAAAAAAAAAAAA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81640770	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTCTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	112	0.0089	24	c.478 others(43): Show c.478-11432_478-11431insGTGTGTGTGTGTGTGTGTGTCTCT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMSS1_chr3_99812862_100186732	99984048	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01928.hp1 others(15): Show HG01257.hp1 HG01258.hp1 HG01928.hp1 HG01952.hp2 HG01978.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02735.hp2 HG03139.hp1 HG04184.hp1 NA18612.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18990.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0069 a0001c0001t0001g0159 a0001c0001t0001g0161 others(15): Show a0001c0001t0001g0069 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0194 a0001c0001t0001g0220 a0001c0001t0001g0229 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0006g0061 a0001c0001t0006g0073	18	88	0.2045	24	c.65- others(43): Show c.65-162922_65-162921insGTGTGTGTGTGTGTGTGTGTGTGT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100021960	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	160	0.0063	24	c.65- others(43): Show c.65-125012_65-125011insTGTGTGTGTGTGAGAGAGAGAGAG	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM4_chr16_66609750_66701743	66683189	A A	ACGTATAT others(17): Show ACGTATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0021	1	315	0.0032	24	c.186 others(43): Show c.186+13150_186+13151insCGTATATATATATATATATATACG	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	1/3			chr16	TogoVar
CMTM6_chr3_32476312_32507852	32477706	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0159 a0001c0001t0024g0159	1	138	0.0072	24	c.62 others(35): Show c.6253_*6254insTTTTTTTTTTTTTTTTTTTTTTTT	CMTM6	ENSG00000091317.8	transcript	ENST00000205636.4	protein_coding		3605		chr3	TogoVar
CMTM7_chr3_32386853_32460528	32430681	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp2 NA18944.hp1 HG02630.hp1 HG02647.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0048 a0001c0001t0001g0232 a0001c0001t0006g0246 a0001c0001t0001g0048 a0001c0001t0001g0232 a0001c0001t0006g0246	3	171	0.0175	24	c.160 others(43): Show c.160-11148_160-11125dupTGTGTGTGTGTGTGTGTGTGTGTG	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32295455	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02683.hp2 HG02300.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0237 a0001c0001t0001g0136 a0001c0001t0001g0237	2	197	0.0102	24	c.147 others(43): Show c.147+56359_147+56360insAAAAAAAAAAAAAAAAAAAAAAAA	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18984.hp2 NA19012.hp1 NA18950.hp2 NA18984.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0114 a0001c0001t0001g0300 a0001c0001t0001g0047 a0001c0001t0001g0114 a0001c0001t0001g0300	3	61	0.0492	24	c.148 others(43): Show c.148-38298_148-38297insATATATATATATATATATTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02040.hp2 HG02083.hp1 others(3): Show HG01934.hp2 HG02040.hp2 HG02083.hp1 HG04199.hp2 NA18939.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0050 a0001c0001t0001g0111 a0001c0001t0001g0217 others(3): Show a0001c0001t0001g0050 a0001c0001t0001g0111 a0001c0001t0001g0217 a0001c0001t0001g0283 a0001c0001t0002g0221 a0001c0001t0002g0224	6	64	0.0938	24	c.148 others(43): Show c.148-38298_148-38297insATATATATATATATATTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	59	0.0169	24	c.148 others(43): Show c.148-38298_148-38297insATATATATATATATTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361286	G G	GTTTTTTT others(17): Show GTTTTTTTTTTGTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	55	0.0182	24	c.321 others(41): Show c.321+3749_321+3750insTGTTTTTTTTTTTGTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32361286	G G	GTTTTTTT others(17): Show GTTTTTTTTTTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	55	0.0182	24	c.321 others(41): Show c.321+3749_321+3750insTGTTTTTTTTTTTTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTR2_chr16_71276392_71294402	71289659	G G	GGGGAGGG others(17): Show GGGGAGGGGGAGGGGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0007 a0004c0005t0006g0007	1	435	0.0023	24	c.-60 others(33): Show c.-604_-603insTCCCCCCTCCCCCCTCCCCCTCCC	CMTR2	ENSG00000180917.18	transcript	ENST00000434935.7	protein_coding		258		chr16	TogoVar
CMYA5_chr5_79684836_79805222	79688942	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02630.hp2 HG02895.hp2 others(4): Show HG02055.hp2 HG02630.hp2 HG02895.hp2 HG02922.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp2	a0003 a0012 a0013 others(1): Show a0003 a0012 a0013 a0014	a0003c0003 a0003c0034 a0012c0015 others(2): Show a0003c0003 a0003c0034 a0012c0015 a0013c0016 a0014c0032	a0003c0003t0005 a0003c0003t0008 a0003c0034t0012 others(4): Show a0003c0003t0005 a0003c0003t0008 a0003c0034t0012 a0012c0015t0004 a0013c0016t0004 a0013c0016t0007 a0014c0032t0007	a0003c0003t0005g0020 a0003c0003t0008g0018 a0003c0034t0012g0021 others(4): Show a0003c0003t0005g0020 a0003c0003t0008g0018 a0003c0034t0012g0021 a0012c0015t0004g0022 a0013c0016t0004g0019 a0013c0016t0007g0024 a0014c0032t0007g0027	7	48	0.1458	24	c.-96 others(33): Show c.-966_-965insAAAAAAAAAAAAAAAAAAAAAAAA	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding		893		chr5	TogoVar
CMYA5_chr5_79684836_79805222	79742048	C C	CTCTTCTT others(17): Show CTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0014 a0014	a0014c0038 a0014c0038	a0014c0038t0002 a0014c0038t0002	a0014c0038t0002g0312 a0014c0038t0002g0312	1	107	0.0093	24	c.106 others(45): Show c.10639-1750_10639-1727dupCTTCTTCTTCTTCTTCTTCTTCTT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CMYA5_chr5_79684836_79805222	79778811	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTATGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp2 others(54): Show HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00673.hp1 HG00735.hp1 HG01069.hp1 HG01081.hp1 HG01255.hp1 HG01257.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02630.hp1 HG02698.hp1 HG03017.hp1 HG03490.hp2 HG04199.hp2 NA18941.hp2 NA18943.hp1 NA18946.hp1 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18979.hp2 NA18984.hp2 NA18990.hp1 NA18999.hp1 NA18999.hp2 NA19009.hp2 NA19064.hp1 NA19067.hp2 NA19075.hp2 NA19080.hp1 NA19088.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0025 a0039 a0040 a0041 a0044 a0050 a0051 a0052 a0056 a0063 a0079 a0083	a0001c0001 a0001c0013 a0001c0033 others(26): Show a0001c0001 a0001c0013 a0001c0033 a0001c0055 a0001c0056 a0001c0058 a0002c0002 a0003c0003 a0004c0006 a0004c0014 a0005c0005 a0005c0089 a0006c0004 a0007c0007 a0011c0012 a0011c0052 a0025c0021 a0039c0109 a0039c0110 a0040c0029 a0041c0039 a0044c0080 a0050c0088 a0051c0072 a0052c0054 a0056c0078 a0063c0098 a0079c0047 a0083c0083	a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 a0001c0033t0002 a0001c0055t0001 a0001c0056t0001 a0001c0058t0002 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0006t0001 a0004c0006t0002 a0004c0014t0002 a0005c0005t0001 a0005c0005t0002 a0005c0089t0001 a0006c0004t0001 a0006c0004t0002 a0007c0007t0002 a0011c0012t0001 a0011c0012t0002 a0011c0052t0001 a0025c0021t0001 a0039c0109t0002 a0039c0110t0002 a0040c0029t0001 a0041c0039t0001 a0044c0080t0002 a0050c0088t0002 a0051c0072t0002 a0052c0054t0002 a0056c0078t0001 a0063c0098t0005 a0079c0047t0002 a0083c0083t0002	a0001c0001t0001g0099 a0001c0001t0001g0124 a0001c0001t0001g0125 others(54): Show a0001c0001t0001g0099 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0165 a0001c0001t0001g0257 a0001c0001t0002g0126 a0001c0001t0002g0174 a0001c0001t0002g0293 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0337 a0001c0013t0001g0154 a0001c0033t0002g0285 a0001c0055t0001g0116 a0001c0056t0001g0090 a0001c0058t0002g0339 a0002c0002t0002g0065 a0002c0002t0002g0070 a0002c0002t0002g0112 a0003c0003t0001g0192 a0003c0003t0001g0232 a0003c0003t0001g0243 a0003c0003t0002g0213 a0004c0006t0001g0082 a0004c0006t0002g0210 a0004c0014t0002g0040 a0005c0005t0001g0043 a0005c0005t0001g0218 a0005c0005t0002g0214 a0005c0089t0001g0348 a0006c0004t0001g0161 a0006c0004t0001g0162 a0006c0004t0001g0225 a0006c0004t0002g0104 a0007c0007t0002g0006 a0007c0007t0002g0108 a0007c0007t0002g0111 a0007c0007t0002g0113 a0007c0007t0002g0145 a0011c0012t0001g0261 a0011c0012t0002g0248 a0011c0012t0002g0300 a0011c0012t0002g0350 a0011c0052t0001g0283 a0025c0021t0001g0299 a0039c0109t0002g0231 a0039c0110t0002g0078 a0040c0029t0001g0050 a0041c0039t0001g0278 a0044c0080t0002g0118 a0050c0088t0002g0215 a0051c0072t0002g0255 a0052c0054t0002g0274 a0056c0078t0001g0288 a0063c0098t0005g0259 a0079c0047t0002g0052 a0083c0083t0002g0224	57	253	0.2253	24	c.115 others(47): Show c.11556-10141_11556-10140insATGTGTGTGTGTGTGTGTGTGT GT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CMYA5_chr5_79684836_79805222	79778811	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTATG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0022 a0022	a0022c0024 a0022c0024	a0022c0024t0001 a0022c0024t0001	a0022c0024t0001g0181 a0022c0024t0001g0181	1	197	0.0051	24	c.115 others(47): Show c.11556-10139_11556-10138insATGTGTGTGTGTGTGTGTGTGT GT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CMYA5_chr5_79684836_79805222	79778811	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	197	0.0051	24	c.115 others(47): Show c.11556-10158_11556-10135dupGTGTGTGTGTGTGTGTGTGTGT GT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CMYA5_chr5_79684836_79805222	79778813	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTATGTGTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(45): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG01109.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02258.hp1 HG02523.hp2 HG02572.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp1 HG03225.hp1 HG03540.hp1 NA18939.hp2 NA18948.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18988.hp2 NA18994.hp2 NA18997.hp1 NA19003.hp1 NA19006.hp1 NA19030.hp1 NA19030.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19082.hp1 NA19084.hp1 NA20300.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0012 a0015 a0016 a0019 a0030 a0045 a0061 a0069 a0081	a0001c0001 a0001c0013 a0002c0002 others(20): Show a0001c0001 a0001c0013 a0002c0002 a0002c0020 a0002c0114 a0003c0003 a0003c0069 a0004c0006 a0004c0014 a0005c0005 a0006c0004 a0007c0007 a0009c0009 a0012c0015 a0015c0027 a0015c0045 a0016c0018 a0019c0028 a0030c0041 a0045c0081 a0061c0091 a0069c0094 a0081c0100	a0001c0001t0001 a0001c0013t0002 a0001c0013t0003 others(29): Show a0001c0001t0001 a0001c0013t0002 a0001c0013t0003 a0001c0013t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0020t0001 a0002c0114t0001 a0003c0003t0005 a0003c0069t0002 a0004c0006t0002 a0004c0006t0003 a0004c0014t0002 a0005c0005t0002 a0006c0004t0002 a0006c0004t0006 a0007c0007t0001 a0007c0007t0002 a0009c0009t0001 a0009c0009t0002 a0012c0015t0016 a0015c0027t0002 a0015c0027t0003 a0015c0045t0002 a0016c0018t0001 a0019c0028t0002 a0030c0041t0005 a0045c0081t0002 a0061c0091t0005 a0069c0094t0002 a0081c0100t0002	a0001c0001t0001g0198 a0001c0013t0002g0041 a0001c0013t0002g0204 others(44): Show a0001c0001t0001g0198 a0001c0013t0002g0041 a0001c0013t0002g0204 a0001c0013t0003g0205 a0001c0013t0006g0140 a0002c0002t0001g0127 a0002c0002t0001g0147 a0002c0002t0002g0130 a0002c0002t0002g0141 a0002c0002t0002g0208 a0002c0002t0002g0334 a0002c0002t0002g0354 a0002c0002t0006g0120 a0002c0002t0006g0164 a0002c0020t0001g0117 a0002c0114t0001g0196 a0003c0003t0005g0035 a0003c0069t0002g0310 a0004c0006t0002g0059 a0004c0006t0002g0144 a0004c0006t0002g0303 a0004c0006t0003g0066 a0004c0006t0003g0236 a0004c0006t0003g0258 a0004c0014t0002g0158 a0005c0005t0002g0004 a0005c0005t0002g0170 a0006c0004t0002g0123 a0006c0004t0006g0156 a0007c0007t0001g0009 a0007c0007t0002g0114 a0009c0009t0001g0264 a0009c0009t0001g0357 a0009c0009t0002g0265 a0009c0009t0002g0268 a0012c0015t0016g0318 a0015c0027t0002g0057 a0015c0027t0003g0055 a0015c0045t0002g0194 a0015c0045t0002g0230 a0016c0018t0001g0169 a0019c0028t0002g0079 a0030c0041t0005g0001 a0045c0081t0002g0095 a0061c0091t0005g0038 a0069c0094t0002g0011 a0081c0100t0002g0356	48	304	0.1579	24	c.115 others(47): Show c.11556-10141_11556-10140insATGTGTATGTGTGTGTGTGTGT GT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CMYA5_chr5_79684836_79805222	79778813	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01169.hp2 HG02040.hp1 others(26): Show HG00609.hp2 HG01169.hp2 HG02040.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04204.hp2 NA18942.hp2 NA18946.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18983.hp2 NA18989.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19068.hp2 NA19075.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0016 a0025 a0038 a0041 a0042 a0071	a0001c0001 a0002c0002 a0002c0020 others(11): Show a0001c0001 a0002c0002 a0002c0020 a0003c0003 a0004c0006 a0004c0011 a0005c0005 a0007c0007 a0016c0018 a0025c0021 a0038c0035 a0041c0039 a0042c0031 a0071c0111	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(17): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0020t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0013 a0004c0006t0002 a0004c0011t0001 a0005c0005t0001 a0007c0007t0001 a0007c0007t0002 a0016c0018t0001 a0016c0018t0002 a0025c0021t0006 a0038c0035t0001 a0041c0039t0001 a0042c0031t0003 a0071c0111t0002	a0001c0001t0001g0106 a0001c0001t0001g0150 a0001c0001t0001g0163 others(26): Show a0001c0001t0001g0106 a0001c0001t0001g0150 a0001c0001t0001g0163 a0002c0002t0001g0329 a0002c0002t0002g0075 a0002c0002t0002g0159 a0002c0020t0002g0190 a0003c0003t0001g0046 a0003c0003t0002g0054 a0003c0003t0002g0074 a0003c0003t0002g0149 a0003c0003t0003g0352 a0003c0003t0013g0094 a0004c0006t0002g0249 a0004c0011t0001g0276 a0005c0005t0001g0039 a0005c0005t0001g0353 a0007c0007t0001g0047 a0007c0007t0002g0115 a0016c0018t0001g0176 a0016c0018t0002g0146 a0016c0018t0002g0282 a0025c0021t0006g0351 a0038c0035t0001g0096 a0038c0035t0001g0097 a0041c0039t0001g0003 a0042c0031t0003g0228 a0042c0031t0003g0237 a0071c0111t0002g0321	29	285	0.1018	24	c.115 others(47): Show c.11556-10154_11556-10131dupGTGTGTGTGTGTGTGTGTGTAT GT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNBD1_chr8_86861415_87387859	87092459	G G	GTGTGTGT others(17): Show GTGTGTGTGTATATATATACACATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	151	0.0066	24	c.432 others(45): Show c.432-113525_432-113524insATATATATACACATATGTGTGTGT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBP_chr3_129162827_129188896	129172632	G G	GCAGGCAG others(17): Show GCAGGCAGGCAGGCAGACAGGCAGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0164 a0001c0002t0004g0164	1	327	0.0031	24	c.-14 others(39): Show c.-14-862_-14-861insGCTGCCTGTCTGCCTGCCTGCCTG	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNBP_chr3_129162827_129188896	129181649	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0321 a0001c0002t0038g0321	1	43	0.0233	24	c.-15 others(41): Show c.-15+2126_-15+2127insTTTTTTTTTTTTTTTTTTTTTTTT	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNGA4_chr11_6234089_6249479	6247043	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG00741.hp2 others(21): Show HG00280.hp2 HG00733.hp2 HG00741.hp2 HG01106.hp1 HG01175.hp1 HG01358.hp2 HG01517.hp1 HG01891.hp1 HG02056.hp2 HG02074.hp2 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp1 NA18945.hp1 NA18961.hp2 NA18977.hp1 NA18993.hp2 NA18994.hp2 NA19002.hp2 NA19004.hp1 NA20752.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0016 a0007c0009 a0001c0001 a0001c0016 a0007c0009	a0001c0001t0001 a0001c0016t0001 a0007c0009t0001 a0001c0001t0001 a0001c0016t0001 a0007c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0016t0001g0003 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0016t0001g0003 a0007c0009t0001g0003	24	93	0.2581	24	c.26 others(35): Show c.2634_*2635insAAAAAAAAAAAAAAAAAAAAAAAA	CNGA4	ENSG00000132259.13	transcript	ENST00000379936.3	protein_coding		2565		chr11	TogoVar
CNGB1_chr16_57877340_57976128	57879796	T T	TTTCTTTC others(17): Show TTTCTTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0156 a0001c0004t0002g0156	1	243	0.0041	24	c.43 others(35): Show c.4367_*4368insGGAAGGAAGGAAGGAAGGAAAGAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2543		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879796	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0163 a0001c0029t0002g0163	1	243	0.0041	24	c.43 others(35): Show c.4367_*4368insGGAAGGAAGGAAGGAAAGAAAGAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2543		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879799	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCCTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03654.hp1 HG03669.hp2 others(2): Show HG01884.hp1 HG03654.hp1 HG03669.hp2 NA18966.hp1 NA20905.hp2	a0001 a0023 a0038 a0001 a0023 a0038	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0023c0069 a0038c0093	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0023c0069t0001 a0038c0093t0001	a0001c0001t0001g0280 a0001c0002t0001g0125 a0001c0003t0001g0270 others(2): Show a0001c0001t0001g0280 a0001c0002t0001g0125 a0001c0003t0001g0270 a0023c0069t0001g0045 a0038c0093t0001g0258	5	231	0.0216	24	c.43 others(35): Show c.4364_*4365insAAAGAAGGAAAGAAAGAAAGAAAG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2540		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57885557	C C	CCTCTCTC others(17): Show CCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02451.hp2 HG01361.hp2 HG02451.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0122 a0001c0001 a0007c0122	a0001c0001t0013 a0007c0122t0003 a0001c0001t0013 a0007c0122t0003	a0001c0001t0013g0251 a0007c0122t0003g0317 a0001c0001t0013g0251 a0007c0122t0003g0317	2	237	0.0084	24	c.346 others(43): Show c.3463-1101_3463-1100insAGAGAGAGAGAGAGAGAGAGAGAG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	32/32			chr16	TogoVar
CNGB3_chr8_86569179_86748634	86600776	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	29	0.0345	24	c.178 others(43): Show c.1781+3293_1781+3316dupAAAAAAAAAAAAAAAAAAAAAAAA	CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	15/17			chr8	TogoVar
CNIH3_chr1_224611317_224745554	224616352	G G	GGCAGCGG others(17): Show GGCAGCGGCAGCGGCAGCGGCAGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00609.hp1 HG02523.hp2 HG04184.hp2 others(10): Show HG00609.hp1 HG02523.hp2 HG04184.hp2 NA18960.hp1 NA18966.hp2 NA18969.hp2 NA18975.hp2 NA18984.hp1 NA18992.hp2 NA19012.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0030 a0001c0001t0006 a0001c0001t0007 a0001c0001t0030	a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0035 others(10): Show a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0030g0029	13	356	0.0365	24	c.-81 others(33): Show c.-818_-817insGGCAGCGGCAGCGGCAGCAGCAGC	CNIH3	ENSG00000143786.8	transcript	ENST00000272133.4	protein_coding	1/6	817	INFO_REALIGN_3_PRIME	chr1	TogoVar
CNKSR2_chrX_21369418_21659689	21473745	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02280.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0011 a0001c0001t0009g0012 a0001c0001t0009g0011 a0001c0001t0009g0012	2	108	0.0185	24	c.561 others(41): Show c.561+2957_561+2958insTTTTTTTTTTTTTTTTTTTTTTTT	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	5/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNKSR3_chr6_154382515_154515685	154415228	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp2 HG02015.hp1 others(9): Show HG00597.hp1 HG00642.hp2 HG02015.hp1 HG03130.hp2 NA18939.hp1 NA18946.hp1 NA18948.hp2 NA18957.hp1 NA18973.hp2 NA18999.hp2 NA19004.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0023 others(7): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0023 a0001c0001t0025 a0001c0001t0087 a0001c0001t0089 a0001c0001t0090 a0001c0001t0102 a0001c0001t0107 a0001c0002t0096	a0001c0001t0002g0209 a0001c0001t0011g0186 a0001c0001t0011g0271 others(9): Show a0001c0001t0002g0209 a0001c0001t0011g0186 a0001c0001t0011g0271 a0001c0001t0011g0272 a0001c0001t0023g0039 a0001c0001t0025g0007 a0001c0001t0087g0270 a0001c0001t0089g0252 a0001c0001t0090g0253 a0001c0001t0102g0133 a0001c0001t0107g0239 a0001c0002t0096g0242	12	80	0.1500	24	c.946 others(39): Show c.946-806_946-805insAAAAAAAAAAAAAAAAAAAAAAAA	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	9/12			chr6	TogoVar
CNMD_chr13_52698264_52744820	52701790	T T	TACACACA others(17): Show TACACACACAAAGACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	325	0.0031	24	c.18 others(35): Show c.1804_*1805insGTGTGTGTGTGTCTTTGTGTGTGT	CNMD	ENSG00000136110.13	transcript	ENST00000377962.8	protein_coding		1473		chr13	TogoVar
CNMD_chr13_52698264_52744820	52701802	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00738.hp2 HG01074.hp2 others(23): Show HG00609.hp1 HG00738.hp2 HG01074.hp2 HG01169.hp1 HG01169.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01975.hp1 HG02015.hp2 HG02040.hp2 HG02523.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp1 NA18950.hp2 NA18954.hp2 NA18960.hp1 NA18971.hp2 NA18982.hp1 NA18982.hp2 NA18993.hp1 NA19043.hp1 NA19066.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0022 others(21): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0209 a0001c0001t0002g0121 a0001c0001t0006g0033 a0001c0001t0006g0119 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0183	26	36	0.7222	24	c.17 others(35): Show c.1792_*1793insGTGTGTGTGTGTGTGTGTGTGTGT	CNMD	ENSG00000136110.13	transcript	ENST00000377962.8	protein_coding		1461		chr13	TogoVar
CNN1_chr19_11533851_11555323	11552290	G G	GGAGGGTC others(17): Show GGAGGGTCTGGCACTGCCCCAGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0182 a0001c0002t0002g0182	1	390	0.0026	24	c.24 others(35): Show c.2495_*2496insGAGGGTCTGGCACTGCCCCAGGTT	CNN1	ENSG00000130176.8	transcript	ENST00000252456.7	protein_coding		1968		chr19	TogoVar

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