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
BRF1_chr14_105204286_105306001	105302836	T T	TTCCCAAA others(43): Show TTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCTCCCCGCCCTGTC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0025 a0001c0001t0011g0025	1	70	0.0143	50	c.-22 others(61): Show c.-2257_-2208dupGGACAGGGCGGGGAGCAGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding		1836		chr14	TogoVar
BRWD3_chrX_80664503_80814877	80700433	G G	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0181 a0001c0001t0079g0181	1	3	0.3333	50	c.283 others(67): Show c.2836-370_2836-369insATATATATATATATATATATATATATAT ATATATATATATATATATATAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	24/40			chrX	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(43): Show TATATATATATATATATATATACACACACACACACACACACACACACACA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	260	0.0038	50	c.-49 others(61): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATAT ATATATATATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BTBD9_chr6_38163451_38644929	38374305	A A	ATATATAT others(43): Show ATATATATATGTGTATATATATATATATATATATATGTATATATATATGT G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0133	a0001c0001t0133g0189 a0001c0001t0133g0189	1	196	0.0051	50	c.115 others(71): Show c.1155-29213_1155-29212insCACATATATATATACATATATATA TATATATATATATACACATATATATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(43): Show CTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	214	0.0047	50	c.57 others(61): Show c.5731_*5732insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAGAAAAGAAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C12orf40_chr12_39621183_39726914	39653558	T T	TCTTCTTC others(43): Show TCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTT C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	127	0.0079	50	c.686 others(67): Show c.686+3204_686+3205insCTTCTTCTTCTTCTTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTTTTC	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12			chr12	TogoVar
C12orf40_chr12_39621183_39726914	39653585	C C	CTTCTTTC others(43): Show CTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTT T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	115	0.0087	50	c.686 others(67): Show c.686+3236_686+3237insTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTTCTTCTTCTTCTTTTTCTT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39714094	C C	CATGTATA others(43): Show CATGTATATACGTATGTATACGTGTATATGTATATATGTACATACGTATA T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0313 a0002c0002t0001g0313	1	138	0.0072	50	c.141 others(69): Show c.1412-2651_1412-2602dupGTATGTATACGTGTATATGTATATAT GTACATACGTATATATGTATATAC	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf54_chr12_48477498_48501524	48500574	A A	ACCTCCCG others(43): Show ACCTCCCGGACGGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	105	0.0095	50	c.44 others(61): Show c.4434_*4435insCCTCCCGGACGGGGGTGGCTGGCCGGGTGGGGGG CTGACCCCCCCACCTC	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		4051		chr12	TogoVar
C12orf56_chr12_64259762_64395758	64367220	T T	ATTATATA others(43): Show ATTATATATTATATATAATATACAGTTTATATATTATATATAATATACAG T	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18993.hp1 HG03704.hp1 NA18993.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0003 a0001c0003t0001 a0002c0002t0003	a0001c0003t0001g0201 a0002c0002t0003g0207 a0001c0003t0001g0201 a0002c0002t0003g0207	2	280	0.0071	50	c.253 others(69): Show c.253-14164_253-14163insCTGTATATTATATATAATATATAAAC TGTATATTATATATAATATATAAT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C12orf56_chr12_64259762_64395758	64367292	C C	CAGTTTAT others(43): Show CAGTTTATATATTATATATAATATACAGTTTATATATTATATATAATATA T	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	192	0.0052	50	c.253 others(69): Show c.253-14237_253-14236insATATATTATATATAATATATAAACTG TATATTATATATAATATATAAACT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C16orf95_chr16_87297814_87322392	87304305	T T	TGCCCATC others(43): Show TGCCCATCCTCTAAGGCTGGGATCCAGGTGTGGGCCACTGTGCCCGGCCT C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(87): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00741.hp2 HG01123.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02523.hp1 HG02630.hp1 HG02717.hp2 HG02738.hp2 HG02896.hp2 HG03017.hp2 HG03209.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18969.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19005.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp2 NA19058.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19086.hp1 NA19240.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0002c0015 a0003c0018	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0002c0001t0001 a0002c0015t0001 a0003c0018t0001	a0001c0002t0001g0010 a0001c0002t0001g0034 a0001c0002t0001g0086 others(35): Show a0001c0002t0001g0010 a0001c0002t0001g0034 a0001c0002t0001g0086 a0001c0002t0001g0090 a0001c0002t0003g0019 a0001c0002t0003g0052 a0001c0003t0001g0078 a0002c0001t0001g0004 a0002c0001t0001g0007 a0002c0001t0001g0014 a0002c0001t0001g0040 a0002c0001t0001g0042 a0002c0001t0001g0043 a0002c0001t0001g0046 a0002c0001t0001g0047 a0002c0001t0001g0051 a0002c0001t0001g0130 a0002c0001t0001g0138 a0002c0001t0001g0140 a0002c0001t0001g0146 a0002c0001t0001g0147 a0002c0001t0001g0155 a0002c0001t0001g0158 a0002c0001t0001g0161 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0164 a0002c0001t0001g0165 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0170 a0002c0001t0001g0173 a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0001g0185 a0002c0015t0001g0166 a0003c0018t0001g0180	90	246	0.3659	50	c.702 others(67): Show c.702-1280_702-1231dupGAGGCCGGGCACAGTGGCCCACACCTGG ATCCCAGCCTTAGAGGATGGGC	C16orf95	ENSG00000260456.7	transcript	ENST00000567970.2	protein_coding	6/6			chr16	TogoVar
C16orf95_chr16_87297814_87322392	87304305	T T	TGCCCATC others(43): Show TGCCCATCCTCTAAGGCTGGGATGCAGGTGTGGGCCACTGTGCCCGGCCT C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0061 a0001c0003t0001g0061	1	157	0.0064	50	c.702 others(67): Show c.702-1231_702-1230insGAGGCCGGGCACAGTGGCCCACACCTGC ATCCCAGCCTTAGAGGATGGGC	C16orf95	ENSG00000260456.7	transcript	ENST00000567970.2	protein_coding	6/6			chr16	TogoVar
C16orf95_chr16_87297814_87322392	87304305	T T	TGCCCATC others(43): Show TGCCCATCCTTTAAGGCTGGGATCCAGCTGTGGGCCACTGTGCCCGGCCT C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG02258.hp1 others(1): Show HG00140.hp2 HG00733.hp2 HG02258.hp1 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0067 a0002c0001t0001g0045 a0002c0001t0001g0149 a0001c0003t0001g0067 a0002c0001t0001g0045 a0002c0001t0001g0149	4	160	0.0250	50	c.702 others(67): Show c.702-1231_702-1230insGAGGCCGGGCACAGTGGCCCACAGCTGG ATCCCAGCCTTAAAGGATGGGC	C16orf95	ENSG00000260456.7	transcript	ENST00000567970.2	protein_coding	6/6			chr16	TogoVar
C16orf95_chr16_87297814_87322392	87304305	T T	TGCCCATC others(43): Show TGCCCATCCTTTAAGGCTGGGATGCAGGTGTGGGCCACCACACCCGGCCT C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp2 HG01891.hp1 others(24): Show HG00544.hp2 HG00738.hp2 HG01891.hp1 HG02055.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18940.hp2 NA18944.hp1 NA18955.hp1 NA18967.hp2 NA18972.hp2 NA18983.hp1 NA18989.hp1 NA19065.hp1 NA19066.hp2 NA20129.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0002 a0001c0007 a0002c0001 others(3): Show a0001c0002 a0001c0007 a0002c0001 a0002c0004 a0005c0014 a0008c0012	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0007t0001 a0002c0001t0002 a0002c0004t0001 a0005c0014t0002 a0008c0012t0008	a0001c0002t0001g0009 a0001c0002t0001g0101 a0001c0002t0001g0102 others(15): Show a0001c0002t0001g0009 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0106 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0002g0033 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0107 a0001c0002t0004g0196 a0001c0007t0001g0188 a0002c0001t0002g0182 a0002c0004t0001g0041 a0002c0004t0001g0128 a0005c0014t0002g0093 a0008c0012t0008g0116	27	183	0.1475	50	c.702 others(67): Show c.702-1231_702-1230insGAGGCCGGGTGTGGTGGCCCACACCTGC ATCCCAGCCTTAAAGGATGGGC	C16orf95	ENSG00000260456.7	transcript	ENST00000567970.2	protein_coding	6/6			chr16	TogoVar
C16orf95_chr16_87297814_87322392	87304305	T T	TGCCCATC others(43): Show TGCCCATCCTTTAAGGCTGGGATGCAGGTGTGGGCCACTGTGCCCGGCCT C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00639.hp2 others(67): Show HG00280.hp2 HG00408.hp2 HG00639.hp2 HG00673.hp2 HG01071.hp2 HG01099.hp2 HG01257.hp1 HG01258.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02129.hp2 HG02155.hp2 HG02273.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18939.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18961.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18979.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18997.hp2 NA18999.hp1 NA19001.hp1 NA19004.hp2 NA19009.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19070.hp2 NA19072.hp1 NA19078.hp1 NA19080.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0001c0003 a0001c0013 others(3): Show a0001c0002 a0001c0003 a0001c0013 a0002c0001 a0002c0004 a0009c0016	a0001c0002t0001 a0001c0002t0010 a0001c0003t0001 others(4): Show a0001c0002t0001 a0001c0002t0010 a0001c0003t0001 a0001c0013t0001 a0002c0001t0001 a0002c0004t0001 a0009c0016t0001	a0001c0002t0001g0011 a0001c0002t0010g0190 a0001c0003t0001g0002 others(22): Show a0001c0002t0001g0011 a0001c0002t0010g0190 a0001c0003t0001g0002 a0001c0003t0001g0015 a0001c0003t0001g0020 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0066 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0074 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0079 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0013t0001g0065 a0002c0001t0001g0135 a0002c0004t0001g0133 a0002c0004t0001g0134 a0009c0016t0001g0141	70	226	0.3097	50	c.702 others(67): Show c.702-1231_702-1230insGAGGCCGGGCACAGTGGCCCACACCTGC ATCCCAGCCTTAAAGGATGGGC	C16orf95	ENSG00000260456.7	transcript	ENST00000567970.2	protein_coding	6/6			chr16	TogoVar
C16orf95_chr16_87297814_87322392	87304332	G G	GTGTGGGC others(43): Show GTGTGGGCCACTGTGCCCGGCCTCGCCCATCCTCTAAGGCTGGGATCCAG C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03453.hp1 HG03579.hp1 HG03195.hp1 HG03453.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0092 a0002c0001t0001g0151 a0002c0001t0001g0160 a0001c0002t0001g0092 a0002c0001t0001g0151 a0002c0001t0001g0160	3	353	0.0085	50	c.702 others(67): Show c.702-1258_702-1257insGCTGGATCCCAGCCTTAGAGGATGGGCG AGGCCGGGCACAGTGGCCCACA	C16orf95	ENSG00000260456.7	transcript	ENST00000567970.2	protein_coding	6/6			chr16	TogoVar
C18orf63_chr18_74310839_74364189	74361976	T T	TATATAAT others(43): Show TATATAATTTATAATATATGCATATAATATAATTTATAATATATGCATAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 NA18949.hp1 NA18953.hp1 others(5): Show HG03688.hp1 NA18949.hp1 NA18953.hp1 NA18955.hp1 NA18964.hp1 NA18969.hp1 NA18981.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0198 a0001c0001t0001g0199	8	328	0.0244	50	c.55 others(61): Show c.5529_*5530insATATAATTTATAATATATGCATATAATATAATTT ATAATATATGCATATA	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2788		chr18	TogoVar
C18orf63_chr18_74310839_74364189	74362003	T T	TATATAAT others(43): Show TATATAATTTATAATATATGCATATAATATAATTTATAATATATGCATAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	224	0.0045	50	c.55 others(61): Show c.5556_*5557insATATAATTTATAATATATGCATATAATATAATTT ATAATATATGCATATA	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2815		chr18	TogoVar
C1GALT1C1_chrX_120620674_120635054	120632168	T T	TAAAATAA others(43): Show TAAAATAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	284	0.0035	50	c.-22 others(61): Show c.-2258_-2257insTTTTATTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTATTTT	C1GALT1C1	ENSG00000171155.8	transcript	ENST00000304661.6	protein_coding		2115		chrX	TogoVar
C1GALT1C1_chrX_120620674_120635054	120632168	T T	TAATAAAA others(43): Show TAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03704.hp1 HG03490.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	2	285	0.0070	50	c.-22 others(61): Show c.-2258_-2257insTTTTATTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATT	C1GALT1C1	ENSG00000171155.8	transcript	ENST00000304661.6	protein_coding		2115		chrX	TogoVar
C20orf96_chr20_265863_295750	278930	C C	CGGAGGGA others(43): Show CGGAGGGAGGGCGGGACGGAGGGAGGGAGGGGCGGGGACGGAGGGAGGGA G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0164 a0002c0006t0001g0164	1	322	0.0031	50	c.465 others(65): Show c.465+241_465+242insCTCCCTCCCTCCGTCCCCGCCCCTCCCTCC CTCCGTCCCGCCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C22orf42_chr22_32144006_32164303	32146606	T T	TATTATAT others(43): Show TATTATATATAGTATATAATATATATATTATATATAGTATATAATATATA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG02647.hp1 others(3): Show HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG03516.hp1 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0012 a0003c0003t0002g0033 a0003c0003t0002g0012 a0003c0003t0002g0033	6	396	0.0152	50	c.29 others(61): Show c.2933_*2934insCTATATATTATATACTATATATAATATATATATT ATATACTATATATAAT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2399		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG03225.hp1 HG02717.hp1 HG03225.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0010 a0002c0006t0002g0010	2	115	0.0174	50	c.16 others(61): Show c.1637_*1638insAAAAAAAAAAAAAATATATATATATATATATATA TATATATATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C2CD3_chr11_74007718_74176002	74066264	A A	AGGAGGGG others(43): Show AGGAGGGGGAACATCACACACTGGGGCCTGTCGTGGGGTGGGGGGAGGGG G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01109.hp1 others(13): Show HG00544.hp1 HG00609.hp2 HG01109.hp1 HG01261.hp2 HG01517.hp2 HG02056.hp1 HG02145.hp1 HG02300.hp2 HG02602.hp1 HG02615.hp1 HG03209.hp1 HG03927.hp1 NA18943.hp2 NA19030.hp1 NA19080.hp1 NA20752.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0019	a0001c0001 a0002c0003 a0002c0005 others(6): Show a0001c0001 a0002c0003 a0002c0005 a0003c0002 a0004c0004 a0005c0006 a0006c0012 a0010c0010 a0019c0043	a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 others(6): Show a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 a0003c0002t0001 a0004c0004t0001 a0005c0006t0001 a0006c0012t0001 a0010c0010t0001 a0019c0043t0001	a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0118 others(13): Show a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0158 a0002c0003t0001g0187 a0002c0003t0001g0200 a0002c0005t0001g0072 a0003c0002t0001g0275 a0003c0002t0001g0290 a0004c0004t0001g0040 a0004c0004t0001g0181 a0005c0006t0001g0022 a0006c0012t0001g0235 a0010c0010t0001g0305 a0019c0043t0001g0084	16	20	0.8000	50	c.495 others(69): Show c.4951+7988_4951+7989insCCCCCTCCCCCCACCCCACGACAGGC CCCAGTGTGTGATGTTCCCCCTCC	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	24/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74066267	A A	AGGGGGAA others(43): Show AGGGGGAACATCACACACTGGGGCCTGTCGTGGGGTGGGGGGAGGGGGGA G	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18980.hp1 HG02615.hp2 NA18980.hp1	a0002 a0024 a0002 a0024	a0002c0003 a0024c0024 a0002c0003 a0024c0024	a0002c0003t0001 a0024c0024t0001 a0002c0003t0001 a0024c0024t0001	a0002c0003t0001g0070 a0024c0024t0001g0203 a0002c0003t0001g0070 a0024c0024t0001g0203	2	314	0.0064	50	c.495 others(69): Show c.4951+7985_4951+7986insCTCCCCCCTCCCCCCACCCCACGACA GGCCCCAGTGTGTGATGTTCCCCC	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	24/32			chr11	TogoVar
C2CD6_chr2_201482421_201624178	201563469	A A	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18960.hp1 NA18941.hp2 NA18960.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0022 a0001c0001 a0007c0022	a0001c0001t0001 a0007c0022t0001 a0001c0001t0001 a0007c0022t0001	a0001c0001t0001g0117 a0007c0022t0001g0107 a0001c0001t0001g0117 a0007c0022t0001g0107	2	133	0.0150	50	c.977 others(67): Show c.977+2259_977+2260insGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGG	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	9/15			chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539921	A A	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0024 a0024	a0024c0044 a0024c0044	a0024c0044t0001 a0024c0044t0001	a0024c0044t0001g0214 a0024c0044t0001g0214	1	319	0.0031	50	c.144 others(67): Show c.144+2386_144+2387insGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27540118	C C	CGGGGCGG others(43): Show CGGGGCGGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGA T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp2 HG01169.hp2 others(8): Show HG00639.hp2 HG01167.hp2 HG01169.hp2 HG02486.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp2 NA20129.hp1	a0005 a0034 a0035 a0005 a0034 a0035	a0005c0005 a0034c0029 a0035c0030 a0005c0005 a0034c0029 a0035c0030	a0005c0005t0002 a0034c0029t0002 a0035c0030t0002 a0005c0005t0002 a0034c0029t0002 a0035c0030t0002	a0005c0005t0002g0005 a0005c0005t0002g0020 a0005c0005t0002g0021 others(7): Show a0005c0005t0002g0005 a0005c0005t0002g0020 a0005c0005t0002g0021 a0005c0005t0002g0022 a0005c0005t0002g0025 a0005c0005t0002g0026 a0005c0005t0002g0027 a0005c0005t0002g0031 a0034c0029t0002g0023 a0035c0030t0002g0024	11	323	0.0341	50	c.144 others(67): Show c.144+2556_144+2557insTGGCCAGGCGTGGGGCTGATCCCCCCCA CCTCCCTCCCGGATGGGGCGGC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27540119	G G	GGGGCGGC others(43): Show GGGGCGGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGAC T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01167.hp1 HG01891.hp1 others(4): Show HG00733.hp2 HG01167.hp1 HG01891.hp1 HG02559.hp2 HG03195.hp2 NA19240.hp2 NA21309.hp1	a0002 a0012 a0002 a0012	a0002c0006 a0012c0014 a0002c0006 a0012c0014	a0002c0006t0001 a0002c0006t0003 a0012c0014t0001 a0002c0006t0001 a0002c0006t0003 a0012c0014t0001	a0002c0006t0001g0033 a0002c0006t0001g0034 a0002c0006t0001g0037 others(4): Show a0002c0006t0001g0033 a0002c0006t0001g0034 a0002c0006t0001g0037 a0002c0006t0003g0035 a0002c0006t0003g0036 a0012c0014t0001g0041 a0012c0014t0001g0042	7	323	0.0217	50	c.144 others(67): Show c.144+2556_144+2557insTGGCCAGGCGTGGGGCTGATCCCCCCCA CCTCCCTCCCGGACTGGGCGGC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27540246	G G	GGGGCGGC others(43): Show GGGGCGGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGAC T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0032 a0012c0014t0001g0032	1	323	0.0031	50	c.144 others(67): Show c.144+2688_144+2689insAGGCGTGGGGCTGATCCCCCCCACCTCC CTCCCGGACTGGGCGGCTGGCC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C5_chr9_120947335_121055275	121024324	A A	AGGGGGAG others(43): Show AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGGAGGGGAGGGGGAG G	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	223	0.0045	50	c.100 others(67): Show c.1001-806_1001-805insCCTCCCCCTCCCCTCCCCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCC	C5	ENSG00000106804.10	transcript	ENST00000223642.3	protein_coding	9/40			chr9	TogoVar
C7_chr5_40904497_40989643	40953854	T T	TAACATAA others(43): Show TAACATAAACCATGTACCATTATTGTGTATAAATAAAAAATAAAAAAACA A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0141 a0002c0002t0002g0141	1	378	0.0026	50	c.109 others(69): Show c.1094-1531_1094-1530insCATAAACCATGTACCATTATTGTGTA TAAATAAAAAATAAAAAAACAAAA	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7orf50_chr7_992006_1143247	1016658	G G	GCAGCGCA others(43): Show GCAGCGCACAGCAGCGTACAGCAGCGCACGCCAGAGCACAGTAGCGCACG C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG06807.hp2 HG02258.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0294 a0001c0001t0005g0295	2	324	0.0062	50	c.130 others(67): Show c.130-6516_130-6515insGCGTGCGCTACTGTGCTCTGGCGTGCGC TGCTGTACGCTGCTGTGCGCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016708	C C	CCAGCGTA others(43): Show CCAGCGTACAGCAGCACACAGCAGCGCACGCCAGTGCACACCAGCGCACA G	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18975.hp1 NA18948.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0221 a0001c0001t0002g0213 a0001c0001t0002g0221	2	320	0.0063	50	c.130 others(67): Show c.130-6566_130-6565insCTGTGCGCTGGTGTGCACTGGCGTGCGC TGCTGTGTGCTGCTGTACGCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016708	C C	CCAGCGTA others(43): Show CCAGCGTACAGCAGCACACAGCAGCGCACGCCAGTGCACGCCAGCGCACA G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02965.hp1 HG01167.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0250 a0001c0001t0008g0155 a0001c0001t0005g0250 a0001c0001t0008g0155	2	320	0.0063	50	c.130 others(67): Show c.130-6566_130-6565insCTGTGCGCTGGCGTGCACTGGCGTGCGC TGCTGTGTGCTGCTGTACGCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1038667	G G	GCCCCCCG others(43): Show GCCCCCCGCCCGGCCGGCCGCCCTCTCCGGGAGGGAGGTGGGGCGGTCAG C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0251 a0001c0001t0005g0251	1	324	0.0031	50	c.130 others(69): Show c.130-28525_130-28524insGCTGACCGCCCCACCTCCCTCCCGGA GAGGGCGGCCGGCCGGGCGGGGGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1070306	T T	TGGGGGGT others(43): Show TGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01074.hp2 HG01515.hp2 others(7): Show HG01071.hp2 HG01074.hp2 HG01515.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp2 HG02602.hp1 HG02735.hp2 HG03710.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0026 a0001c0001t0010 a0001c0001t0026	a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0123 others(7): Show a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0123 a0001c0001t0010g0124 a0001c0001t0010g0132 a0001c0001t0010g0133 a0001c0001t0010g0134 a0001c0001t0010g0145 a0001c0001t0010g0149 a0001c0001t0026g0175	10	323	0.0310	50	c.129 others(69): Show c.129+56950_129+56951insCACCTCCCTCCCGGATGGCACGGCTG GCCGGGCGGGGGGGCTGACCCCCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128181	C C	CCTGTCAC others(43): Show CCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCC T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	320	0.0031	50	c.-1- others(63): Show c.-1-796_-1-795insAGGGTGCGATGAGCCGAGATGGCGCCACTGCA CTCCAGCCCGGGTGACAG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C9_chr5_39279140_39369495	39333606	C C	CCGTCTCC others(43): Show CCGTCTCCCTCTCCGTCTCCCTCTCCCCTTTCCATGGTCTCCCCTCTCCC T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00642.hp2 others(27): Show HG00408.hp1 HG00558.hp1 HG00642.hp2 HG01169.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01516.hp2 HG01891.hp1 HG02257.hp1 HG02602.hp2 HG02683.hp1 HG02717.hp1 HG02738.hp2 HG03017.hp2 HG03098.hp1 HG03831.hp2 HG03927.hp2 HG04204.hp1 NA18954.hp1 NA18959.hp1 NA18964.hp2 NA18975.hp1 NA18991.hp2 NA18995.hp2 NA19010.hp2 NA19012.hp2 NA19086.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0013 a0002c0002 others(1): Show a0001c0001 a0001c0013 a0002c0002 a0012c0019	a0001c0001t0001 a0001c0001t0004 a0001c0013t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0013t0002 a0002c0002t0001 a0012c0019t0001	a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0061 others(25): Show a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0101 a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0001g0188 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0249 a0001c0001t0001g0281 a0001c0001t0004g0365 a0001c0013t0002g0119 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0287 a0002c0002t0001g0296 a0002c0002t0001g0299 a0002c0002t0001g0305 a0002c0002t0001g0308 a0002c0002t0001g0311 a0002c0002t0001g0323 a0002c0002t0001g0327 a0002c0002t0001g0329 a0002c0002t0001g0340 a0002c0002t0001g0345 a0002c0002t0001g0349 a0012c0019t0001g0306	30	375	0.0800	50	c.477 others(67): Show c.477-1793_477-1792insAGGGAGAGGGGAGACCATGGAAAGGGGA GAGGGAGACGGAGAGGGAGACG	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	4/10			chr5	TogoVar
C9orf152_chr9_110194561_110213159	110209918	A A	AAGAGAAG others(43): Show AAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0046	a0001c0003t0046g0159 a0001c0003t0046g0159	1	462	0.0022	50	c.-23 others(61): Show c.-2340_-2339insGCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1760		chr9	TogoVar
C9orf152_chr9_110194561_110213159	110209923	A A	AAGAGAAG others(43): Show AAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0052 a0001c0003t0023g0052	1	464	0.0022	50	c.-23 others(61): Show c.-2345_-2344insGCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1765		chr9	TogoVar
CA10_chr17_51625320_52163714	51942538	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	41	0.0244	50	c.137 others(69): Show c.137-11407_137-11406insTATATATATATATATATATATATATA TATATATATATATATATATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	2/8			chr17	TogoVar
CA1_chr8_85322608_85383113	85344219	A A	ATACTTAA others(43): Show ATACTTAATATATAATATATATACTTATATATATTATATATATATATATA C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03041.hp1 HG01243.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0239 a0001c0001t0001g0144 a0001c0001t0001g0239	2	322	0.0062	50	c.-24 others(67): Show c.-24-2561_-24-2560insGTATATATATATATATAATATATATAAG TATATATATTATATATTAAGTA	CA1	ENSG00000133742.14	transcript	ENST00000523022.6	protein_coding	1/7			chr8	TogoVar
CABCOCO1_chr10_61657929_61771766	61680671	C C	CATATATA others(43): Show CATATATATGTTATACATGTATAACATATATATGTTATACATGTATAACA T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(64): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02273.hp2 HG02300.hp2 HG02615.hp2 HG02735.hp1 HG02738.hp1 HG02895.hp2 HG03017.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18941.hp2 NA18944.hp2 NA18949.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18983.hp2 NA18986.hp1 NA18991.hp1 NA19000.hp2 NA19043.hp1 NA19064.hp2 NA19065.hp2 NA19077.hp2 NA19089.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(61): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0002g0274 a0001c0002t0001g0082	67	299	0.2241	50	c.165 others(65): Show c.165-466_165-465insATGTTATACATGTATAACATATATATGTTA TACATGTATAACATATATAT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24011076	A A	AACACACA others(43): Show AACACACACACACACACACACACACACACACACACACACACACACACACA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0001 a0003c0018t0001	a0003c0018t0001g0156 a0003c0018t0001g0156	1	199	0.0050	50	c.-36 others(59): Show c.-366_-365insACACACACACACACACACACACACACACACACACAC ACACACACACACAC	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		227		chr22	TogoVar
CACFD1_chr9_133454978_133475848	133460459	A A	AGGGCGGG others(43): Show AGGGCGGGGGGGCGGCGGGGGCGGGGGGCGGCGGGGGCGGGGGGGCGGCG G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	334	0.0030	50	c.121 others(65): Show c.121+298_121+299insGCGGCGGGGGCGGGGGGGCGGCGGGGGCGG GGGGGCGGCGGGGGCGGGGG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1E_chr1_181478517_181813084	181795767	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19082.hp2 NA18942.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0002c0002t0014 a0001c0001t0014 a0002c0002t0014	a0001c0001t0014g0142 a0002c0002t0014g0125 a0001c0001t0014g0142 a0002c0002t0014g0125	2	126	0.0159	50	c.620 others(67): Show c.6208+743_6208+744insATATATATATATATATATATATATATAT ATATATATATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1185711	C C	CATAGGGC others(43): Show CATAGGGCCGGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATG T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0052 a0052	a0052c0046 a0052c0046	a0052c0046t0004 a0052c0046t0004	a0052c0046t0004g0109 a0052c0046t0004g0109	1	309	0.0032	50	c.300 others(67): Show c.300-9261_300-9260insATAGGGCCGGGGGGCGGGGTACGTGGGG GGCGGGCGAGTAGACGGCATGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185767	G G	GTAGGGGC others(43): Show GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGC A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0009 a0009	a0009c0076 a0009c0076	a0009c0076t0006 a0009c0076t0006	a0009c0076t0006g0064 a0009c0076t0006g0064	1	194	0.0052	50	c.300 others(67): Show c.300-9181_300-9180insCGGGGCAGGTGAGTAGACGGCGTGCATA GGGGCCGGAGGCGGGGTGTGTA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar

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