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
CCDC171_chr9_15548043_15979037	15944836	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19086.hp2 HG00597.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0174 a0002c0002t0002g0141 a0001c0001t0001g0174 a0002c0002t0002g0141	2	57	0.0351	21	c.375 others(42): Show c.3753+24414_3753+24415insCTTTCTTTCTTTCTTTCTTTC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	25/25			chr9	TogoVar
CCDC175_chr14_59500067_59581812	59511548	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp2 HG00140.hp1 HG01069.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0102 a0004c0006t0001g0146 a0004c0006t0001g0102 a0004c0006t0001g0146	2	5	0.4000	21	c.214 others(38): Show c.2142+211_2142+212insTTTTTTTTTTTTTTTTTTTTT	CCDC175	ENSG00000151838.12	transcript	ENST00000537690.7	protein_coding	18/19			chr14	TogoVar
CCDC178_chr18_32932406_33445721	33281097	T T	TATAATAA others(14): Show TATAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	11	0.0909	21	c.117 others(42): Show c.1176+12061_1176+12062insTATTATTATTATTATTATTAT	CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	12/22			chr18	TogoVar
CCDC179_chr11_22841922_22865474	22850970	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	361	0.0028	21	c.196 others(38): Show c.196-3450_196-3449insAAAAAAAAAAAAAAAAAAAAA	CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3			chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850972	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	294	0.0034	21	c.196 others(38): Show c.196-3452_196-3451insAAAAAAAAAAAAAAAAAAAAA	CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3			chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850974	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	228	0.0044	21	c.196 others(38): Show c.196-3454_196-3453insAAAAAAAAAAAAAAAAAAAAA	CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3			chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	77	0.0130	21	c.196 others(38): Show c.196-3456_196-3455insAAAAAAAAAAAAAAATATATA	CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3			chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03491.hp1 NA18983.hp2 others(2): Show HG00423.hp2 HG03491.hp1 NA18983.hp2 NA19043.hp1 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0009	5	81	0.0617	21	c.196 others(38): Show c.196-3456_196-3455insAAAAAAAAAAAAAAAAATATA	CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3			chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0007	1	77	0.0130	21	c.196 others(38): Show c.196-3456_196-3455insAAAAAAAAAAAAAAAAAAATA	CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3			chr11	TogoVar
CCDC180_chr9_97302659_97383751	97331109	T T	TGCTGTTC others(14): Show TGCTGTTCGCCTCCTAGTATCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19030.hp2 HG02723.hp2 NA19030.hp2	a0007 a0007	a0007c0023 a0007c0024 a0007c0023 a0007c0024	a0007c0023t0015 a0007c0024t0015 a0007c0023t0015 a0007c0024t0015	a0007c0023t0015g0176 a0007c0024t0015g0175 a0007c0023t0015g0176 a0007c0024t0015g0175	2	362	0.0055	21	c.227 others(38): Show c.2274+343_2274+363dupGCTGTTCGCCTCCTAGTATCC	CCDC180	ENSG00000197816.16	transcript	ENST00000529487.3	protein_coding	18/36		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC187_chr9_136244973_136309094	136252150	A A	AAGGTCCA others(14): Show AAGGTCCAGGCGACCGTCCCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG02132.hp2 HG03834.hp2 others(3): Show HG00323.hp1 HG02132.hp2 HG03834.hp2 NA18952.hp1 NA18959.hp2 NA19240.hp1	a0005 a0014 a0015 others(3): Show a0005 a0014 a0015 a0070 a0137 a0184	a0005c0005 a0014c0013 a0015c0015 others(3): Show a0005c0005 a0014c0013 a0015c0015 a0070c0129 a0137c0082 a0184c0213	a0005c0005t0096 a0014c0013t0073 a0015c0015t0084 others(3): Show a0005c0005t0096 a0014c0013t0073 a0015c0015t0084 a0070c0129t0072 a0137c0082t0121 a0184c0213t0055	a0005c0005t0096g0361 a0014c0013t0073g0249 a0015c0015t0084g0098 others(3): Show a0005c0005t0096g0361 a0014c0013t0073g0249 a0015c0015t0084g0098 a0070c0129t0072g0111 a0137c0082t0121g0045 a0184c0213t0055g0372	6	398	0.0151	21	c.14 others(32): Show c.1443_*1444insGCGGGACGGTCGCCTGGACCT	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1443		chr9	TogoVar
CCDC192_chr5_127698391_127946507	127918216	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19240.hp1 NA21309.hp2 HG01243.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0082 a0001c0001t0001g0115 a0002c0004t0001g0089 a0001c0001t0001g0082 a0001c0001t0001g0115 a0002c0004t0001g0089	3	146	0.0205	21	c.536 others(40): Show c.536-22947_536-22946insAAAAAAAAAAAAAAAAAAAAA	CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC194_chr19_17382196_17399196	17382276	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG02602.hp1 NA18985.hp1 others(1): Show HG01515.hp2 HG02602.hp1 NA18985.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0001 a0001c0001t0024g0042 a0001c0001t0001g0001 a0001c0001t0024g0042	4	158	0.0253	21	c.82 others(32): Show c.8232_*8233insCTTTCTTTCTTTCTTTCTTTC	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4919		chr19	TogoVar
CCDC194_chr19_17382196_17399196	17382280	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 NA18962.hp1 NA18971.hp1 others(4): Show HG02698.hp2 NA18962.hp1 NA18971.hp1 NA18977.hp2 NA19004.hp1 NA19086.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0002 a0001c0001t0001 a0001c0001t0006 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0006g0009 a0002c0002t0002g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0006g0009 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0081	7	48	0.1458	21	c.82 others(32): Show c.8228_*8229insCTTTCTTTCTTTCTTTCTTTC	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4915		chr19	TogoVar
CCDC200_chr17_43216420_43233623	43225677	A A	AAGTATAT others(14): Show AAGTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03491.hp2 NA19085.hp1 HG00099.hp2 HG03491.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0186 a0001c0001t0002g0028 a0001c0001t0002g0186	3	200	0.0150	21	c.106 others(38): Show c.106-1129_106-1128insATATATATATATATATATACT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC30_chr1_42458286_42662190	42502258	G G	GACGTGGG others(14): Show GACGTGGGACCCTCCGAGCCAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03486.hp1 HG03209.hp2 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0201 a0001c0005t0008g0202 a0001c0005t0008g0201 a0001c0005t0008g0202	2	322	0.0062	21	c.456 others(38): Show c.456+3342_456+3343insACGTGGGACCCTCCGAGCCAT	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	6/20			chr1	TogoVar
CCDC30_chr1_42458286_42662190	42502273	G G	GAGCCATA others(14): Show GAGCCATACGTGGGACCCTCCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02055.hp1 others(10): Show HG01243.hp2 HG01884.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02965.hp1 HG02970.hp1 HG03139.hp1 HG03486.hp2 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0004 a0001c0006t0005 a0001c0006t0008 others(2): Show a0001c0006t0004 a0001c0006t0005 a0001c0006t0008 a0001c0006t0015 a0001c0007t0005	a0001c0006t0004g0310 a0001c0006t0005g0319 a0001c0006t0008g0313 others(10): Show a0001c0006t0004g0310 a0001c0006t0005g0319 a0001c0006t0008g0313 a0001c0006t0008g0317 a0001c0006t0008g0320 a0001c0006t0008g0321 a0001c0006t0015g0311 a0001c0007t0005g0312 a0001c0007t0005g0314 a0001c0007t0005g0315 a0001c0007t0005g0316 a0001c0007t0005g0318 a0001c0007t0005g0322	13	322	0.0404	21	c.456 others(38): Show c.456+3363_456+3364insACGTGGGACCCTCCAAGCCAT	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC30_chr1_42458286_42662190	42575649	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01069.hp2 HG01167.hp1 others(10): Show HG00438.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp2 HG02145.hp2 HG03209.hp1 HG03491.hp1 HG03492.hp1 NA18943.hp1 NA18972.hp2 NA19002.hp2 NA19067.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0004t0004 others(2): Show a0001c0001t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0009 a0001c0004t0015	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0004t0003g0290 others(10): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0004t0003g0290 a0001c0004t0004g0198 a0001c0004t0004g0199 a0001c0004t0004g0258 a0001c0004t0004g0268 a0001c0004t0004g0281 a0001c0004t0004g0282 a0001c0004t0004g0287 a0001c0004t0009g0271 a0001c0004t0009g0291 a0001c0004t0015g0200	13	22	0.5909	21	c.132 others(40): Show c.1321-1362_1321-1361insAAAAAAAAAAAAAAAAAAAAA	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC38_chr12_95862048_95947614	95908636	A A	AGAGGGAG others(14): Show AGAGGGAGAGGGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG01346.hp1 others(5): Show HG01167.hp1 HG01243.hp2 HG01346.hp1 HG01978.hp2 HG02486.hp1 HG02615.hp1 HG02886.hp2 NA18747.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0005c0010	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0005c0010t0001	a0001c0001t0001g0034 a0001c0001t0001g0159 a0001c0002t0001g0048 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0159 a0001c0002t0001g0048 a0001c0002t0001g0121 a0001c0008t0001g0021 a0001c0008t0001g0070 a0001c0008t0001g0173 a0005c0010t0001g0238	8	59	0.1356	21	c.305 others(38): Show c.305-2186_305-2185insCTCTCCCTCTCCCTCTCCCTC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC3_chr10_12891625_13006713	12894247	T T	TCCTTCCT others(14): Show TCCTTCCTTCTCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 NA18946.hp1 NA18948.hp1 others(1): Show HG00544.hp2 NA18946.hp1 NA18948.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0184 a0001c0001t0004g0246 a0001c0001t0004g0370 others(1): Show a0001c0001t0004g0184 a0001c0001t0004g0246 a0001c0001t0004g0370 a0001c0001t0004g0380	4	20	0.2000	21	c.41 others(32): Show c.4168_*4169insGAGGGAGGGAGAGAAGGAAGG	CCDC3	ENSG00000151468.11	transcript	ENST00000378825.5	protein_coding		2377		chr10	TogoVar
CCDC40_chr17_80031642_80105613	80037688	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19043.hp2 HG02976.hp2 NA19043.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0119 a0001c0013t0003g0120 a0001c0013t0003g0119 a0001c0013t0003g0120	2	240	0.0083	21	c.30- others(34): Show c.30-434_30-433insAAAAAAAAATATATATATATA	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80037688	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0021 a0021	a0021c0056 a0021c0056	a0021c0056t0002 a0021c0056t0002	a0021c0056t0002g0162 a0021c0056t0002g0162	1	239	0.0042	21	c.30- others(34): Show c.30-434_30-433insAAATATATATATATATATATA	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80044700	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0049 a0002c0049	a0002c0049t0002 a0002c0049t0002	a0002c0049t0002g0196 a0002c0049t0002g0196	1	320	0.0031	21	c.553 others(38): Show c.553-2578_553-2577insATATATATATATATATATATA	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80044700	A A	AAATGTGT others(14): Show AAATGTGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03139.hp1 HG02615.hp2 HG03139.hp1	a0001 a0024 a0001 a0024	a0001c0021 a0024c0045 a0001c0021 a0024c0045	a0001c0021t0006 a0024c0045t0001 a0001c0021t0006 a0024c0045t0001	a0001c0021t0006g0306 a0024c0045t0001g0305 a0001c0021t0006g0306 a0024c0045t0001g0305	2	321	0.0062	21	c.553 others(38): Show c.553-2578_553-2577insATGTGTATATATATATATATA	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0034 a0034	a0034c0060 a0034c0060	a0034c0060t0001 a0034c0060t0001	a0034c0060t0001g0148 a0034c0060t0001g0148	1	22	0.0455	21	c.116 others(40): Show c.1160-2477_1160-2476insATATATATATATATTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA20805.hp1 HG03688.hp2 NA20805.hp1	a0001 a0001	a0001c0025 a0001c0031 a0001c0025 a0001c0031	a0001c0025t0002 a0001c0031t0001 a0001c0025t0002 a0001c0031t0001	a0001c0025t0002g0224 a0001c0031t0001g0029 a0001c0025t0002g0224 a0001c0031t0001g0029	2	23	0.0870	21	c.116 others(40): Show c.1160-2477_1160-2476insATATATATATATTTTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02630.hp2 HG04228.hp1 others(1): Show HG01081.hp2 HG02630.hp2 HG04228.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0011	a0001c0002t0003 a0001c0003t0001 a0001c0004t0002 others(1): Show a0001c0002t0003 a0001c0003t0001 a0001c0004t0002 a0001c0011t0001	a0001c0002t0003g0245 a0001c0003t0001g0173 a0001c0004t0002g0354 others(1): Show a0001c0002t0003g0245 a0001c0003t0001g0173 a0001c0004t0002g0354 a0001c0011t0001g0225	4	25	0.1600	21	c.116 others(40): Show c.1160-2477_1160-2476insATATATATATTTTTTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01256.hp2 HG01358.hp1 others(2): Show HG00280.hp2 HG01256.hp2 HG01358.hp1 NA18964.hp2 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0031 a0001c0059 a0001c0002 a0001c0031 a0001c0059	a0001c0002t0003 a0001c0031t0001 a0001c0059t0002 a0001c0002t0003 a0001c0031t0001 a0001c0059t0002	a0001c0002t0003g0227 a0001c0002t0003g0247 a0001c0002t0003g0248 others(2): Show a0001c0002t0003g0227 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0031t0001g0174 a0001c0059t0002g0263	5	26	0.1923	21	c.116 others(40): Show c.1160-2477_1160-2476insATATATATTTTTTTTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18978.hp1 NA18948.hp1 NA18978.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0229 a0001c0025t0002g0231 a0001c0025t0002g0229 a0001c0025t0002g0231	2	23	0.0870	21	c.116 others(40): Show c.1160-2477_1160-2476insATATATTTTTTTTTTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0036 a0036	a0036c0065 a0036c0065	a0036c0065t0005 a0036c0065t0005	a0036c0065t0005g0075 a0036c0065t0005g0075	1	22	0.0455	21	c.116 others(40): Show c.1160-2477_1160-2476insATATTTTTTTTTTTTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0027 a0027	a0027c0046 a0027c0046	a0027c0046t0009 a0027c0046t0009	a0027c0046t0009g0192 a0027c0046t0009g0192	1	22	0.0455	21	c.116 others(40): Show c.1160-2477_1160-2476insATTTTTTTTTTTTTTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC47_chr17_63740255_63778597	63751365	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	32	0.0313	21	c.137 others(38): Show c.1371+554_1371+574dupTTTTTTTTTTTTTTTTTTTTT	CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	12/12			chr17	TogoVar
CCDC65_chr12_48899133_48926576	48912437	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01515.hp2 HG02451.hp1 others(10): Show HG01071.hp2 HG01515.hp2 HG02451.hp1 HG02486.hp2 HG02976.hp1 HG03041.hp1 HG03225.hp2 HG03490.hp2 HG04184.hp1 HG04204.hp1 NA19043.hp2 NA19068.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0144 a0001c0001t0001g0145 others(10): Show a0001c0001t0001g0117 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0186 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0264 a0001c0001t0001g0266	13	29	0.4483	21	c.301 others(38): Show c.301-1964_301-1944dupAAAAAAAAAAAAAAAAAAAAA	CCDC65	ENSG00000139537.11	transcript	ENST00000320516.5	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGTGT others(14): Show GGGGGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18973.hp1 NA18947.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0173 a0001c0001t0001g0001 a0001c0001t0001g0173	2	110	0.0182	21	c.-40 others(30): Show c.-401_-400insGGGGTGTGTGTGTGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56597777	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02630.hp1 HG02965.hp1 others(8): Show HG01496.hp1 HG02630.hp1 HG02965.hp1 HG03516.hp2 HG03942.hp1 HG04184.hp1 HG06807.hp1 NA18952.hp2 NA18982.hp1 NA18994.hp1 NA19081.hp2	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0003c0004 a0007c0015 a0002c0002 a0003c0004 a0007c0015	a0002c0002t0002 a0002c0002t0003 a0003c0004t0004 others(1): Show a0002c0002t0002 a0002c0002t0003 a0003c0004t0004 a0007c0015t0003	a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0003g0056 others(5): Show a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0003g0056 a0003c0004t0004g0012 a0003c0004t0004g0184 a0003c0004t0004g0186 a0003c0004t0004g0191 a0007c0015t0003g0035	11	21	0.5238	21	c.140 others(40): Show c.1404+3764_1404+3765insTTTTTTTTTTTTTTTTTTTTT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC68_chr18_54896509_54964461	54923643	A A	AAATATAT others(14): Show AAATATATCTAAGTAAGCTGCC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03834.hp1 HG01993.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0041 a0001c0001t0002g0042	2	324	0.0062	21	c.684 others(38): Show c.684-4288_684-4268dupGGCAGCTTACTTAGATATATT	CCDC68	ENSG00000166510.14	transcript	ENST00000591504.6	protein_coding	8/11			chr18	TogoVar
CCDC6_chr10_59783747_59911556	59882071	G G	GCGGGGAG others(14): Show GCGGGGAGAAGGAAAGGAAAGC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0026 a0001c0012t0026	a0001c0012t0026g0173 a0001c0012t0026g0173	1	279	0.0036	21	c.303 others(40): Show c.303+24030_303+24050dupGCTTTCCTTTCCTTCTCCCCG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882140	G G	GGCGGGAG others(14): Show GGCGGGAGAAGGAAAGGAAAGC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02683.hp1 NA18522.hp1 HG02602.hp2 HG02683.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0003t0003 a0002c0004t0001 a0001c0001t0002 a0001c0003t0003 a0002c0004t0001	a0001c0001t0002g0159 a0001c0003t0003g0012 a0002c0004t0001g0029 a0001c0001t0002g0159 a0001c0003t0003g0012 a0002c0004t0001g0029	3	276	0.0109	21	c.303 others(40): Show c.303+23981_303+23982insGCTTTCCTTTCCTTCTCCCGC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882290	G G	GGGAGAAG others(14): Show GGGAGAAGGAAAGGAAAGCCGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0028 a0002c0004t0001g0028	1	281	0.0036	21	c.303 others(40): Show c.303+23831_303+23832insGCGGCTTTCCTTTCCTTCTCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882382	G G	GGCGGGAG others(14): Show GGCGGGAGAAGGAAAGGAAAGC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0009 a0005c0009t0001g0009	1	279	0.0036	21	c.303 others(40): Show c.303+23739_303+23740insGCTTTCCTTTCCTTCTCCCGC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882453	C C	CGGGAGAA others(14): Show CGGGAGAAGGAAAGGAAAGCCG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01884.hp2 HG01943.hp2 others(5): Show HG01516.hp1 HG01884.hp2 HG01943.hp2 HG02970.hp1 NA18953.hp1 NA18974.hp1 NA18979.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0003t0003 a0002c0004t0001 a0001c0001t0002 a0001c0003t0003 a0002c0004t0001	a0001c0001t0002g0053 a0001c0001t0002g0085 a0001c0001t0002g0094 others(5): Show a0001c0001t0002g0053 a0001c0001t0002g0085 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0003t0003g0081 a0001c0003t0003g0089 a0002c0004t0001g0010 a0002c0004t0001g0054	8	147	0.0544	21	c.303 others(40): Show c.303+23668_303+23669insCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882566	G G	GCGGGGAG others(14): Show GCGGGGAGAAGGAAAGGAAAGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp2 others(45): Show HG00140.hp2 HG00323.hp2 HG00544.hp2 HG00673.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03540.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18945.hp2 NA18963.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18984.hp1 NA18994.hp1 NA19030.hp1 NA19055.hp2 NA19058.hp2 NA19077.hp2 NA19079.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0011 others(2): Show a0001c0001 a0001c0003 a0001c0011 a0002c0004 a0004c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0019 a0001c0003t0003 a0001c0011t0002 a0002c0004t0001 a0004c0013t0003	a0001c0001t0002g0013 a0001c0001t0002g0033 a0001c0001t0002g0119 others(45): Show a0001c0001t0002g0013 a0001c0001t0002g0033 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0159 a0001c0001t0002g0170 a0001c0001t0004g0139 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0007g0121 a0001c0001t0013g0004 a0001c0001t0019g0140 a0001c0003t0003g0012 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0148 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0153 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0156 a0001c0003t0003g0157 a0001c0003t0003g0158 a0001c0003t0003g0160 a0001c0003t0003g0161 a0001c0003t0003g0163 a0001c0003t0003g0166 a0001c0003t0003g0167 a0001c0003t0003g0169 a0001c0011t0002g0120 a0002c0004t0001g0149 a0002c0004t0001g0162 a0004c0013t0003g0168	48	186	0.2581	21	c.303 others(40): Show c.303+23535_303+23555dupGCTTTCCTTTCCTTCTCCCCG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882589	G G	GCGGGGAG others(14): Show GCGGGGAGAAGGAAAGGAAAGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0164 a0001c0003t0003g0164	1	162	0.0062	21	c.303 others(40): Show c.303+23512_303+23532dupGCTTTCCTTTCCTTCTCCCCG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC7_chr10_32441140_32887864	32828461	A A	AGAAGAAG others(14): Show AGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03195.hp1 HG03516.hp1 HG02976.hp2 HG03195.hp1 HG03516.hp1	a0001 a0008 a0001 a0008	a0001c0020 a0008c0010 a0001c0020 a0008c0010	a0001c0020t0001 a0008c0010t0001 a0001c0020t0001 a0008c0010t0001	a0001c0020t0001g0117 a0008c0010t0001g0128 a0008c0010t0001g0129 a0001c0020t0001g0117 a0008c0010t0001g0128 a0008c0010t0001g0129	3	276	0.0109	21	c.326 others(40): Show c.3268+3862_3268+3863insAGAAGAAGAAGAAGAGGAAGA	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC7_chr10_32441140_32887864	32828485	G G	GGAAGAGG others(14): Show GGAAGAGGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA19030.hp1 HG00741.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0151 a0001c0002t0001g0141 a0001c0002t0001g0151	2	191	0.0105	21	c.326 others(40): Show c.3268+3886_3268+3887insGGAAGAAGAAGAAGAAGAAGA	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC85A_chr2_56178990_56391172	56189297	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02965.hp1 HG03130.hp1 others(2): Show HG02818.hp2 HG02965.hp1 HG03130.hp1 HG03540.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005	a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0002g0010 others(2): Show a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0005g0008	5	161	0.0311	21	c.277 others(38): Show c.277-3165_277-3164insTTTTTTTTTTTTTTTTTTTTT	CCDC85A	ENSG00000055813.6	transcript	ENST00000407595.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC85A_chr2_56178990_56391172	56389517	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	33	0.0303	21	c.51 others(32): Show c.5162_*5163insTATATATATATATATATATAT	CCDC85A	ENSG00000055813.6	transcript	ENST00000407595.3	protein_coding		3346		chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55367528	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03486.hp2 NA18992.hp1 others(1): Show HG02896.hp1 HG03486.hp2 NA18992.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0018 a0001c0001t0002 a0001c0001t0011 a0001c0001t0018	a0001c0001t0002g0122 a0001c0001t0002g0152 a0001c0001t0011g0095 others(1): Show a0001c0001t0002g0122 a0001c0001t0002g0152 a0001c0001t0011g0095 a0001c0001t0018g0008	4	16	0.2500	21	c.403 others(38): Show c.403-3496_403-3495insAAAAAAAAAAAAAAAAAAAAA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	5/32			chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55390053	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	100	0.0100	21	c.165 others(38): Show c.165-1168_165-1167insCTTTTTTTTTTTTTTTTTTTT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	2/32			chr2	TogoVar
CCDC8_chr19_46405329_46418564	46410293	T T	TGATGCAA others(14): Show TGATGCAAACAGAATTCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	454	0.0022	21	c.90 others(30): Show c.900_*901insGCTCTGAATTCTGTTTGCATC	CCDC8	ENSG00000169515.9	transcript	ENST00000307522.5	protein_coding		35		chr19	TogoVar

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