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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BEAN1_chr16_66422295_66487833	66474544	A A	AAGAGGGA others(5): Show AAGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18982.hp1 NA18982.hp2 NA18969.hp1 NA18982.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0222 a0001c0001t0001g0240 a0001c0001t0001g0064 a0001c0001t0001g0222 a0001c0001t0001g0240	3	298	0.0101	12	c.290 others(29): Show c.290-2979_290-2968dupAGAGGGAGGGAG		BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474557	A A	AGAGGGAG others(5): Show AGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0019 a0001c0001t0009g0019	1	298	0.0034	12	c.290 others(29): Show c.290-2992_290-2991insGGAGGGAGGGAG		BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474569	A A	AGAGGGAG others(5): Show AGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18995.hp1 HG03927.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0168 a0001c0001t0001g0043 a0001c0001t0001g0168	2	298	0.0067	12	c.290 others(29): Show c.290-2980_290-2979insGGAGGGAGGGAG		BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474581	A A	AGAGGGAG others(5): Show AGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	298	0.0034	12	c.290 others(29): Show c.290-2967_290-2956dupGGAGGGAGGGAG		BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474618	A A	AAGGGAGG others(5): Show AAGGGAGGGAAGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03209.hp2 HG02896.hp2 HG02897.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0176 a0001c0001t0003g0198 a0001c0001t0003g0199	3	298	0.0101	12	c.290 others(29): Show c.290-2933_290-2932insAGGAGGGAGGGA		BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474622	G G	GAGGAAGG others(5): Show GAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	298	0.0034	12	c.290 others(29): Show c.290-2935_290-2934insAAGGGAGGAAGG		BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
BEGAIN_chr14_100532147_100592417	100538903	T T	TGGAAGCC others(5): Show TGGAAGCCCGCCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18942.hp2 NA18942.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0080 a0007c0018t0001g0080	1	326	0.0031	12	c.893 others(19): Show c.893_904dupCGGCGGGCTTCC	p.Pro others(13): Show p.Pro298_Phe301dup	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	7/7	1031/2788	904/1839	302/612			chr14	TogoVar
BEGAIN_chr14_100532147_100592417	100585415	C C	CCCATCCA others(5): Show CCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	326	0.0031	12	c.42+ others(27): Show c.42+1822_42+1833dupATGGATGGATGG		BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	1/6						chr14	TogoVar
BEND3_chr6_107060182_107120515	107103959	A A	AAAAGAAA others(5): Show AAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0125 a0001c0003t0004g0125	1	368	0.0027	12	c.-11 others(29): Show c.-11-4675_-11-4664dupCTTTCTTTCTTT		BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	1/3						chr6	TogoVar
BEND3_chr6_107060182_107120515	107109442	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00609.hp1 others(98): Show HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp2 HG02165.hp1 HG02300.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG02922.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03490.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04199.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19011.hp2 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19068.hp1 NA19074.hp2 NA19081.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0020 a0001c0021 a0003c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(32): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0056 a0001c0001t0058 a0001c0002t0001 a0001c0002t0006 a0001c0002t0011 a0001c0002t0014 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0044 a0001c0003t0004 a0001c0003t0008 a0001c0004t0009 a0001c0006t0027 a0001c0020t0003 a0001c0021t0001 a0003c0010t0002	a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0126 others(98): Show a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0135 a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0185 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0292 a0001c0001t0003g0007 a0001c0001t0003g0025 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0146 a0001c0001t0003g0155 a0001c0001t0004g0147 a0001c0001t0004g0231 a0001c0001t0004g0239 a0001c0001t0004g0318 a0001c0001t0005g0019 a0001c0001t0005g0065 a0001c0001t0005g0115 a0001c0001t0005g0134 a0001c0001t0005g0144 a0001c0001t0005g0257 a0001c0001t0008g0312 a0001c0001t0010g0023 a0001c0001t0011g0350 a0001c0001t0013g0041 a0001c0001t0013g0199 a0001c0001t0017g0193 a0001c0001t0017g0201 a0001c0001t0018g0259 a0001c0001t0019g0346 a0001c0001t0019g0347 a0001c0001t0019g0348 a0001c0001t0019g0349 a0001c0001t0020g0145 a0001c0001t0025g0132 a0001c0001t0026g0294 a0001c0001t0028g0202 a0001c0001t0034g0215 a0001c0001t0036g0053 a0001c0001t0037g0198 a0001c0001t0056g0353 a0001c0001t0058g0352 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0027 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0081 a0001c0002t0001g0137 a0001c0002t0001g0186 a0001c0002t0001g0196 a0001c0002t0001g0245 a0001c0002t0001g0248 a0001c0002t0001g0256 a0001c0002t0001g0258 a0001c0002t0001g0291 a0001c0002t0001g0293 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0321 a0001c0002t0006g0026 a0001c0002t0006g0154 a0001c0002t0006g0156 a0001c0002t0006g0311 a0001c0002t0011g0351 a0001c0002t0014g0140 a0001c0002t0014g0141 a0001c0002t0014g0153 a0001c0002t0041g0229 a0001c0002t0042g0159 a0001c0002t0043g0189 a0001c0002t0044g0191 a0001c0003t0004g0125 a0001c0003t0004g0128 a0001c0003t0004g0136 a0001c0003t0004g0150 a0001c0003t0004g0187 a0001c0003t0004g0188 a0001c0003t0004g0192 a0001c0003t0004g0214 a0001c0003t0004g0319 a0001c0003t0008g0133 a0001c0004t0009g0024 a0001c0006t0027g0207 a0001c0020t0003g0036 a0001c0021t0001g0028 a0003c0010t0002g0184	101	368	0.2745	12	c.-12 others(29): Show c.-12+5636_-12+5647dupTTTTTTTTTTTT		BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	1/3						chr6	TogoVar
BEND3_chr6_107060182_107120515	107119979	C C	CTATACAT others(5): Show CTATACATAGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0314 a0001c0001t0005g0314	1	368	0.0027	12	c.-49 others(23): Show c.-4902_-4901insTCACTATGTATA		BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding					4465		chr6	TogoVar
BEND4_chr4_42105853_42157655	42123694	G G	GAAAAAAA others(5): Show GAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0008 a0008c0010t0008	a0008c0010t0008g0158 a0008c0010t0008g0158	1	226	0.0044	12	c.114 others(31): Show c.1146+1888_1146+1889insGTTTTTTTTTTT		BEND4	ENSG00000188848.17	transcript	ENST00000502486.6	protein_coding	4/5						chr4	TogoVar
BEND5_chr1_48722519_48781891	48762614	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02615.hp1 HG00639.hp2 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0140 a0001c0002t0002g0141	2	342	0.0059	12	c.227 others(29): Show c.227-1156_227-1145dupCACACACACACA		BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding	1/5						chr1	TogoVar
BEND5_chr1_48722519_48781891	48762656	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	342	0.0029	12	c.227 others(29): Show c.227-1187_227-1186insTACACACACACA		BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding	1/5						chr1	TogoVar
BEND5_chr1_48722519_48781891	48769526	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03130.hp2 HG03195.hp1 others(1): Show HG02559.hp2 HG03130.hp2 HG03195.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0093 others(1): Show a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0002g0094	4	342	0.0117	12	c.226 others(29): Show c.226+7068_226+7079dupGTGTGTGTGTGT		BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding	1/5						chr1	TogoVar
BEND5_chr1_48722519_48781891	48778135	A A	ACATCCAT others(5): Show ACATCCATCCATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0241 a0001c0002t0001g0241	1	342	0.0029	12	c.-13 others(23): Show c.-1316_-1305dupGATGGATGGATG		BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding					1245		chr1	TogoVar
BEND7_chr10_13436088_13534014	13503712	A A	AAAACAAA others(5): Show AAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19240.hp1 HG03041.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0117 a0001c0001t0001g0118	2	300	0.0067	12	c.146 others(29): Show c.146-3644_146-3633dupGTTTGTTTGTTT		BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding	2/8						chr10	TogoVar
BEST1_chr11_61945351_61969461	61951197	A A	ATTATTTA others(5): Show ATTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02145.hp2 others(7): Show HG01109.hp1 HG01884.hp2 HG02145.hp2 HG02258.hp1 HG02572.hp1 HG02647.hp1 HG02896.hp1 HG03130.hp2 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0008 others(1): Show a0001c0002 a0001c0004 a0001c0008 a0001c0020	a0001c0002t0001 a0001c0004t0001 a0001c0008t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0008t0001 a0001c0020t0001	a0001c0002t0001g0012 a0001c0004t0001g0012 a0001c0004t0001g0061 others(4): Show a0001c0002t0001g0012 a0001c0004t0001g0012 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0064 a0001c0008t0001g0067 a0001c0020t0001g0063	10	410	0.0244	12	c.-36 others(27): Show c.-36-559_-36-548dupATTTATTTATTT		BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
BEST1_chr11_61945351_61969461	61953886	A A	AAAACAAA others(5): Show AAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02622.hp2 HG03471.hp1 others(3): Show HG01496.hp1 HG02622.hp2 HG03471.hp1 HG03579.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0065 a0001c0002t0001g0129 a0001c0002t0001g0022 a0001c0002t0001g0065 a0001c0002t0001g0129	6	410	0.0146	12	c.153 others(29): Show c.153-1201_153-1190dupCAAACAAACAAA		BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
BEST1_chr11_61945351_61969461	61957972	T T	TCAAACAA others(5): Show TCAAACAAACAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18964.hp1 NA18999.hp1 HG02148.hp2 NA18964.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0011t0001g0082 a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0011t0001g0082	3	410	0.0073	12	c.715 others(27): Show c.715-157_715-146dupCAAACAAACAAA		BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
BEST3_chr12_69648609_69704303	69656381	G G	GTCTGTCT others(5): Show GTCTGTCTATCTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0237 a0001c0006t0006g0237	1	366	0.0027	12	c.110 others(29): Show c.1101-569_1101-568insTAGATAGACAGA		BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	9/9						chr12	TogoVar
BEST3_chr12_69648609_69704303	69686786	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp2 others(13): Show HG00140.hp2 HG00323.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01175.hp1 HG01496.hp1 HG01978.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0004 a0001c0001t0009 a0005c0007t0004 others(1): Show a0001c0001t0004 a0001c0001t0009 a0005c0007t0004 a0005c0007t0008	a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0043 others(12): Show a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0043 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0053 a0001c0001t0009g0042 a0001c0001t0009g0044 a0005c0007t0004g0052 a0005c0007t0008g0013	16	366	0.0437	12	c.481 others(29): Show c.481+6887_481+6888insCTTTTTTTTTTT		BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9						chr12	TogoVar
BEST3_chr12_69648609_69704303	69700981	T T	TTCCCTCC others(5): Show TTCCCTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	366	0.0027	12	c.-17 others(23): Show c.-1793_-1792insGGGAGGGAGGGA		BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding					1679		chr12	TogoVar
BEST3_chr12_69648609_69704303	69700985	T T	TTCCCTCC others(5): Show TTCCCTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02886.hp1 NA18906.hp2 others(3): Show HG00408.hp2 HG02886.hp1 NA18906.hp2 NA18948.hp2 NA19058.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0071 a0001c0001t0001g0094 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0071 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0182	6	366	0.0164	12	c.-17 others(23): Show c.-1797_-1796insGGGAGGGAGGGA		BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding					1683		chr12	TogoVar
BEST3_chr12_69648609_69704303	69700985	T T	TTCCTTCC others(5): Show TTCCTTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00673.hp1 NA19063.hp2 HG00099.hp1 HG00673.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0022	3	366	0.0082	12	c.-17 others(23): Show c.-1797_-1796insGGGAGGGAAGGA		BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding					1683		chr12	TogoVar
BEST4_chr1_44778585_44793170	44782629	C C	CAAATAAA others(5): Show CAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	390	0.0026	12	c.15 others(23): Show c.1580_*1581insATTTATTTATTT		BEST4	ENSG00000142959.5	transcript	ENST00000372207.4	protein_coding					955		chr1	TogoVar
BEST4_chr1_44778585_44793170	44792972	T T	TAAACAAA others(5): Show TAAACAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG02451.hp1 NA18942.hp1 others(2): Show HG00609.hp1 HG02451.hp1 NA18942.hp1 NA18983.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0002 a0001c0001t0002g0006	5	390	0.0128	12	c.-52 others(23): Show c.-5268_-5267insGTTTGTTTGTTT		BEST4	ENSG00000142959.5	transcript	ENST00000372207.4	protein_coding					4803		chr1	TogoVar
BEX1_chrX_103057651_103069171	103059972	A A	ATCTCTCT others(5): Show ATCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG03098.hp1 HG02257.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	339	0.0059	12	c.29 others(23): Show c.2924_*2925insGAGAGAGAGAGA		BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding					2678		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060012	C C	CTATATAT others(5): Show CTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03195.hp2 HG02723.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0009 a0001c0001t0001g0010	2	339	0.0059	12	c.28 others(23): Show c.2884_*2885insTATATATATATA		BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding					2638		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060016	C C	CTCTATAT others(5): Show CTCTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 NA19240.hp1 HG01257.hp2 HG01258.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0003 a0001c0001t0001g0009	3	339	0.0089	12	c.28 others(23): Show c.2880_*2881insTATATATATAGA		BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding					2634		chrX	TogoVar
BEX1_chrX_103057651_103069171	103065997	T T	TTATATAT others(5): Show TTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG02293.hp2 NA18974.hp1 HG01975.hp1 HG02293.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0006 a0001c0001t0001g0030	3	339	0.0089	12	c.-19 others(23): Show c.-1998_-1997insTATATATATATA		BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding					1827		chrX	TogoVar
BEX1_chrX_103057651_103069171	103066049	G G	GTGTGTGT others(5): Show GTGTGTGTGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01943.hp1 others(2): Show HG00642.hp1 HG01074.hp1 HG01943.hp1 NA18951.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0038 a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0038	5	339	0.0148	12	c.-20 others(23): Show c.-2050_-2049insTATACACACACA		BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding					1879		chrX	TogoVar
BEX3_chrX_103371538_103383164	103375602	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	12	c.-11 others(23): Show c.-1103_-1102insTTTTTTTTTTTT		BEX3	ENSG00000166681.14	transcript	ENST00000361298.9	protein_coding					935		chrX	TogoVar
BEX5_chrX_102148712_102160977	102153606	C C	CATATATA others(5): Show CATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02809.hp1 HG03669.hp2 HG01243.hp1 HG02809.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	3	324	0.0093	12	c.32 others(21): Show c.323_*324insATATATATATAT		BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding					105		chrX	TogoVar
BFSP1_chr20_17488905_17536379	17526141	C C	CGGGGGGG others(5): Show CGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0282 a0001c0003t0001g0282	1	396	0.0025	12	c.378 others(29): Show c.378-1245_378-1234dupCCCCCCCCCCCC		BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	1/7						chr20	TogoVar
BFSP1_chr20_17488905_17536379	17529064	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01123.hp2 HG02074.hp2 others(8): Show HG01106.hp2 HG01123.hp2 HG02074.hp2 HG02083.hp1 HG04228.hp2 NA18945.hp2 NA18953.hp1 NA18962.hp1 NA18968.hp1 NA19091.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0001c0004t0002 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0002 a0001c0005t0004 a0002c0001t0002	a0001c0002t0001g0320 a0001c0002t0001g0323 a0001c0003t0001g0042 others(8): Show a0001c0002t0001g0320 a0001c0002t0001g0323 a0001c0003t0001g0042 a0001c0003t0001g0044 a0001c0003t0001g0317 a0001c0004t0002g0318 a0001c0005t0004g0281 a0002c0001t0002g0043 a0002c0001t0002g0319 a0002c0001t0002g0321 a0002c0001t0002g0322	11	396	0.0278	12	c.377 others(29): Show c.377+1877_377+1888dupACACACACACAC		BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	1/7						chr20	TogoVar
BFSP1_chr20_17488905_17536379	17529090	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02896.hp1 others(4): Show HG01891.hp1 HG02145.hp2 HG02896.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0003c0007	a0001c0002t0001 a0001c0003t0001 a0001c0005t0004 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0005t0004 a0003c0007t0002	a0001c0002t0001g0313 a0001c0003t0001g0312 a0001c0005t0004g0310 others(3): Show a0001c0002t0001g0313 a0001c0003t0001g0312 a0001c0005t0004g0310 a0003c0007t0002g0013 a0003c0007t0002g0311 a0003c0007t0002g0314	7	396	0.0177	12	c.377 others(29): Show c.377+1862_377+1863insTCACACACACAC		BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	1/7						chr20	TogoVar
BFSP2_chr3_133395056_133480208	133409227	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0033 a0001c0004t0001g0033	1	276	0.0036	12	c.489 others(29): Show c.489+8674_489+8685dupGTGTGTGTGTGT		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133415274	A A	ACCCTTGC others(5): Show ACCCTTGCCCTCT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0119 a0002c0003t0001g0119	1	276	0.0036	12	c.489 others(31): Show c.489+14705_489+14706insTTGCCCTCTCCC		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425762	G G	GACGGGAA others(5): Show GACGGGAAAGGGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0167 a0006c0009t0001g0167	1	276	0.0036	12	c.490 others(31): Show c.490-21554_490-21553insCGGGAAAGGGAA		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133446570	T T	TTTTATAT others(5): Show TTTTATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	276	0.0036	12	c.490 others(27): Show c.490-746_490-745insTTATATATATAT		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133449982	A A	AAAGGAAG others(5): Show AAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00597.hp1 others(32): Show HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01515.hp2 HG01516.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG04199.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18960.hp2 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18983.hp2 NA18990.hp2 NA18995.hp1 NA19030.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0007 a0003c0010 a0006c0009	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0007t0001 a0003c0010t0001 a0006c0009t0001	a0001c0001t0001g0113 a0001c0001t0001g0152 a0001c0001t0001g0169 others(31): Show a0001c0001t0001g0113 a0001c0001t0001g0152 a0001c0001t0001g0169 a0001c0002t0001g0016 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0059 a0001c0002t0001g0076 a0001c0002t0001g0082 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0111 a0001c0002t0001g0116 a0001c0002t0001g0124 a0001c0002t0001g0151 a0001c0002t0001g0193 a0001c0002t0001g0196 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0213 a0001c0002t0001g0218 a0001c0002t0001g0222 a0001c0002t0001g0227 a0001c0002t0001g0233 a0001c0002t0001g0248 a0001c0002t0001g0266 a0002c0003t0001g0003 a0002c0003t0001g0119 a0002c0003t0001g0252 a0002c0007t0001g0236 a0003c0010t0001g0156 a0006c0009t0001g0167	35	276	0.1268	12	c.730 others(27): Show c.730-295_730-284dupAGGAAGGAAGGA		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133450016	A A	AGGAAGGA others(5): Show AGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp1 HG02970.hp1 others(2): Show HG02559.hp2 HG02886.hp1 HG02970.hp1 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0161 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0175	5	276	0.0181	12	c.730 others(27): Show c.730-284_730-283insAGGAAGGAGGGA		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133466677	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp1 HG02109.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0008 a0001c0001t0001g0010	2	276	0.0073	12	c.892 others(27): Show c.892-142_892-131dupAAAAAAAAAAAA		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
BGN_chrX_153489980_153514546	153509061	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0119 a0001c0002t0028g0119	1	321	0.0031	12	c.65 others(21): Show c.650_*661dupGTGTGTGTGTGT		BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	8/8				662	INFO_REALIGN_3_PRIME	chrX	TogoVar
BHLHE22_chr8_64575365_64588627	64581463	G G	GGCAGCAG others(5): Show GGCAGCAGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02818.hp1 HG02818.hp1	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0012 a0017c0021t0012	a0017c0021t0012g0000 a0017c0021t0012g0000	1	432	0.0023	12	c.692 others(19): Show c.692_703dupGCAGCAGCAGCA	p.Ser others(13): Show p.Ser231_Ser234dup	BHLHE22	ENSG00000180828.3	transcript	ENST00000321870.3	protein_coding	1/1	1130/3263	704/1146	235/381		INFO_REALIGN_3_PRIME	chr8	TogoVar
BHLHE40_chr3_4974437_4990323	4983829	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02922.hp2 others(3): Show HG02630.hp1 HG02717.hp1 HG02922.hp2 HG03471.hp1 HG03516.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0003t0013 a0001c0003t0037 others(1): Show a0001c0001t0013 a0001c0003t0013 a0001c0003t0037 a0001c0003t0049	a0001c0001t0013g0009 a0001c0001t0013g0035 a0001c0003t0013g0009 others(2): Show a0001c0001t0013g0009 a0001c0001t0013g0035 a0001c0003t0013g0009 a0001c0003t0037g0009 a0001c0003t0049g0036	6	436	0.0138	12	c.15 others(21): Show c.152_*163dupGTGTGTGTGTGT		BHLHE40	ENSG00000134107.5	transcript	ENST00000256495.4	protein_coding	5/5				164	INFO_REALIGN_3_PRIME	chr3	TogoVar
BHLHE40_chr3_4974437_4990323	4983850	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0030 a0001c0002t0041g0030	1	436	0.0023	12	c.16 others(21): Show c.163_*164insGTGTGTATGTGT		BHLHE40	ENSG00000134107.5	transcript	ENST00000256495.4	protein_coding	5/5				164	INFO_REALIGN_3_PRIME	chr3	TogoVar
BHLHE40_chr3_4974437_4990323	4988355	T T	TGCGGGGG others(5): Show TGCGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	436	0.0023	12	c.46 others(23): Show c.4663_*4664insGCGGGGGGGGGG		BHLHE40	ENSG00000134107.5	transcript	ENST00000256495.4	protein_coding					3033		chr3	TogoVar
BHLHE41_chr12_26115030_26130037	26122638	G G	GGCCGCCG others(5): Show GGCCGCCGCCGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0016 a0005c0007t0001g0016	2	422	0.0047	12	c.865 others(19): Show c.865_876dupAGCGGCGGCGGC	p.Gly others(25): Show p.Gly292_Pro293insSerGlyGlyGly	BHLHE41	ENSG00000123095.6	transcript	ENST00000242728.5	protein_coding	5/5	1134/3743	876/1449	292/482			chr12	TogoVar

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