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
FRMD4A_chr10_13638706_14335924	13679474	T T	TATACACA others(23): Show TATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0130 a0001c0001t0004g0130	1	134	0.0075	30	c.111 others(49): Show c.1118-4431_1118-4430insGTGTGTGTGTGTGTGTGTGTGTGTGT GTAT		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	15/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13679474	T T	TATATACA others(23): Show TATATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA19043.hp1 HG01981.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0017 a0001c0001t0020g0026 a0001c0001t0001g0017 a0001c0001t0020g0026	2	134	0.0149	30	c.111 others(49): Show c.1118-4431_1118-4430insGTGTGTGTGTGTGTGTGTGTGTGTGT ATAT		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	15/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13865408	G G	GTTTTATT others(23): Show GTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	134	0.0075	30	c.46- others(45): Show c.46-6526_46-6497dupTAAAATAAAATAAAATAAAATAAAATAAAA		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14110125	T T	TTAAAAAA others(23): Show TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0098 a0001c0001t0009g0098	1	134	0.0075	30	c.45+ others(49): Show c.45+219932_45+219933insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTA		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14125874	C C	CAAAACAG others(23): Show CAAAACAGAACAAAACAAAACAAAACAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0125 a0001c0001t0006g0125	1	134	0.0075	30	c.45+ others(49): Show c.45+204154_45+204183dupTTTTTGTTTTGTTTTGTTTTGTTCTG TTTT		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14319349	C C	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp2 HG01255.hp1 others(1): Show HG00099.hp1 HG01074.hp2 HG01255.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0034 a0001c0001t0005g0030 a0001c0001t0006g0035 others(1): Show a0001c0001t0002g0034 a0001c0001t0005g0030 a0001c0001t0006g0035 a0001c0001t0008g0036	4	134	0.0299	30	c.45+ others(47): Show c.45+10708_45+10709insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14319367	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0061 a0001c0009t0001g0061	1	134	0.0075	30	c.45+ others(47): Show c.45+10690_45+10691insTGTGTGTGAGAGAGAGAGAGAGAGAGAG AG		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	14319367	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02922.hp1 others(2): Show HG02280.hp2 HG02630.hp2 HG02922.hp1 HG03471.hp2 HG03540.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0005c0013t0012 a0001c0001t0001 a0001c0001t0002 a0005c0013t0012	a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0002g0067 others(2): Show a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0002g0067 a0001c0001t0002g0072 a0005c0013t0012g0001	5	134	0.0373	30	c.45+ others(47): Show c.45+10690_45+10691insTGTGTGAGAGAGAGAGAGAGAGAGAGAG AG		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24						chr10	TogoVar
FRMD4B_chr3_69163782_69391088	69215284	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0024 a0001c0009t0024	a0001c0009t0024g0212 a0001c0009t0024g0212	1	224	0.0045	30	c.876 others(45): Show c.876+978_876+979insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	11/22						chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69325081	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0193 a0003c0005t0009g0193	1	224	0.0045	30	c.163 others(49): Show c.163-11565_163-11564insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT		FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	1/22						chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69325085	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0004 a0009c0019t0004	a0009c0019t0004g0057 a0009c0019t0004g0057	1	224	0.0045	30	c.163 others(49): Show c.163-11569_163-11568insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT		FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	1/22						chr3	TogoVar
FRMD7_chrX_132071990_132133020	132107604	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0173 a0001c0006t0002g0173	1	209	0.0048	30	c.58- others(45): Show c.58-6889_58-6888insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC		FRMD7	ENSG00000165694.11	transcript	ENST00000298542.9	protein_coding	1/11						chrX	TogoVar
FRMD8_chr11_65381637_65418525	65415288	G G	GCCTGGCA others(23): Show GCCTGGCACGCACAGCCTGGCTCAGCCAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01891.hp2 HG01069.hp2 HG01071.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0007 a0001c0003t0001 a0001c0003t0007	a0001c0003t0001g0185 a0001c0003t0007g0047 a0001c0003t0001g0185 a0001c0003t0007g0047	3	366	0.0082	30	c.39 others(41): Show c.3928_*3929insCCTGGCACGCACAGCCTGGCTCAGCCAGCA		FRMD8	ENSG00000126391.14	transcript	ENST00000317568.10	protein_coding					1764		chr11	TogoVar
FRMPD2_chr10_48151562_48279696	48181858	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0119 a0002c0002t0001g0119	1	250	0.0040	30	c.258 others(47): Show c.2585-851_2585-850insATATATATATATATATATATATATATAT AT		FRMPD2	ENSG00000170324.21	transcript	ENST00000374201.8	protein_coding	20/28						chr10	TogoVar
FRMPD3_chrX_107444652_107610251	107461757	T T	TTATACAT others(23): Show TTATACATATACATATACATATACATATACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0049 a0001c0001t0014g0049	1	183	0.0055	30	c.-8+ others(47): Show c.-8+11782_-8+11811dupATATACATATACATATACATATACATAT AC		FRMPD3	ENSG00000147234.11	transcript	ENST00000683843.1	protein_coding	1/14					INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12382530	G G	GCATAGCA others(23): Show GCATAGCATAGCATAGCATAGAGCATAGCAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0142	1	174	0.0058	30	c.42- others(49): Show c.42-116150_42-116149insCATAGCATAGCATAGCATAGAGCATA GCAT		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16						chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12553466	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATCTC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	174	0.0058	30	c.158 others(49): Show c.158+54671_158+54672insATATATATATATATATATATATATAT CTCT		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
FRS2_chr12_69465388_69584793	69485085	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACGCG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 NA18612.hp1 others(9): Show HG00558.hp1 HG00597.hp2 NA18612.hp1 NA18946.hp2 NA18959.hp2 NA18961.hp1 NA18964.hp2 NA18967.hp1 NA18971.hp1 NA19074.hp1 NA19081.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0269 others(9): Show a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0269 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0332 a0001c0001t0002g0335	12	342	0.0351	30	c.-26 others(51): Show c.-261+14582_-261+14583insGCGCACACACACACACACACACAC ACACAC		FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
FRS2_chr12_69465388_69584793	69538197	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02055.hp1 HG04115.hp1 others(3): Show HG00609.hp1 HG02055.hp1 HG04115.hp1 NA18961.hp2 NA18984.hp1 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0171 a0001c0002t0001g0179 others(3): Show a0001c0002t0001g0135 a0001c0002t0001g0171 a0001c0002t0001g0179 a0001c0002t0001g0192 a0001c0002t0001g0213 a0001c0002t0001g0220	6	342	0.0175	30	c.-12 others(49): Show c.-122+6167_-122+6168insTATATATATATATATATATATATATA TATA		FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
FRS3_chr6_41765176_41784900	41783779	A A	AAACTCAT others(23): Show AAACTCATTCACATGAGTATTCATTATCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	456	0.0022	30	c.-41 others(41): Show c.-4161_-4132dupAGAGATAATGAATACTCATGTGAATGAGTT		FRS3	ENSG00000137218.10	transcript	ENST00000373018.7	protein_coding					3880		chr6	TogoVar
FRYL_chr4_48492357_48785279	48592082	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02451.hp2 HG02615.hp2 others(2): Show HG00597.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp2 NA18986.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0004 a0004c0007 a0001c0002 a0002c0004 a0004c0007	a0001c0002t0001 a0002c0004t0001 a0004c0007t0001 a0001c0002t0001 a0002c0004t0001 a0004c0007t0001	a0001c0002t0001g0051 a0001c0002t0001g0087 a0001c0002t0001g0114 others(2): Show a0001c0002t0001g0051 a0001c0002t0001g0087 a0001c0002t0001g0114 a0002c0004t0001g0216 a0004c0007t0001g0230	5	282	0.0177	30	c.133 others(49): Show c.1336-1282_1336-1253dupTATATATATATATATATATATATATA TATA		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	16/63						chr4	TogoVar
FRYL_chr4_48492357_48785279	48645124	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01257.hp1 HG01361.hp2 others(16): Show HG00323.hp1 HG01257.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG02071.hp2 HG02074.hp2 HG02145.hp2 HG02451.hp2 HG02735.hp1 HG02965.hp1 HG03209.hp1 NA18944.hp1 NA18946.hp2 NA18972.hp1 NA19056.hp1 NA19079.hp1 NA19088.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0001c0001t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0132 others(16): Show a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0171 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0252 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0267 a0001c0001t0002g0277 a0002c0004t0001g0216	19	282	0.0674	30	c.-80 others(49): Show c.-80-10664_-80-10635dupTATATATATATATATATATATATATA TATA		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63						chr4	TogoVar
FRYL_chr4_48492357_48785279	48645154	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	282	0.0036	30	c.-80 others(49): Show c.-80-10665_-80-10664insGATATATATATATATATATATATATA TATA		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63						chr4	TogoVar
FRY_chr13_32026774_32304125	32226626	C C	CAACTAAC others(23): Show CAACTAACAGAGTTCAGGGACTAATTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0015 a0015	a0015c0049 a0015c0049	a0015c0049t0001 a0015c0049t0001	a0015c0049t0001g0215 a0015c0049t0001g0215	1	236	0.0042	30	c.520 others(47): Show c.5206+653_5206+682dupAACTAACAGAGTTCAGGGACTAATTTTT TT		FRY	ENSG00000073910.23	transcript	ENST00000542859.6	protein_coding	39/60					INFO_REALIGN_3_PRIME	chr13	TogoVar
FSCN2_chr17_81523377_81542130	81528573	T T	TGGCCTCG others(23): Show TGGCCTCGTCAACGACACTGACCGCTACCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18974.hp2 NA18974.hp2	a0009 a0009	a0009c0023 a0009c0023	a0009c0023t0001 a0009c0023t0001	a0009c0023t0001g0002 a0009c0023t0001g0002	1	432	0.0023	30	c.43_ others(35): Show c.43_72dupGGCCTCGTCAACGACACTGACCGCTACCTG	p.Gly others(11): Show p.Gly15_Leu24dup	FSCN2	ENSG00000186765.12	transcript	ENST00000417245.7	protein_coding	1/5	228/1684	73/1479	25/492		INFO_REALIGN_3_PRIME	chr17	TogoVar
FSCN2_chr17_81523377_81542130	81531321	A A	ATGGTGGT others(23): Show ATGGTGGTGGTGGTGGTGATGGTGATGATGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	432	0.0023	30	c.826 others(47): Show c.826+1978_826+1979insGTGATGGTGATGATGGTGGTGGTGGTGG TG		FSCN2	ENSG00000186765.12	transcript	ENST00000417245.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr17	TogoVar
FSD1L_chr9_105443034_105557433	105533416	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03669.hp1 HG02630.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0157 a0001c0001t0005g0176 a0001c0001t0005g0157 a0001c0001t0005g0176	2	380	0.0053	30	c.102 others(49): Show c.1026-1053_1026-1052insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		FSD1L	ENSG00000106701.13	transcript	ENST00000481272.6	protein_coding	10/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
FSD1_chr19_4299598_4328836	4322696	G G	GGCCCAAG others(23): Show GGCCCAAGGAGTATCTGGAGGGAATAGCTGC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0075 a0006c0012t0001g0075	1	412	0.0024	30	c.104 others(47): Show c.1040-261_1040-260insCGCCCAAGGAGTATCTGGAGGGAATAGC TG		FSD1	ENSG00000105255.11	transcript	ENST00000221856.11	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
FSD1_chr19_4299598_4328836	4322703	G G	GGAGTATC others(23): Show GGAGTATCTGGAGGGAATAGCTGCGGCCCAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	412	0.0024	30	c.104 others(47): Show c.1040-261_1040-260insCGGCCCAAGAGTATCTGGAGGGAATAGC TG		FSD1	ENSG00000105255.11	transcript	ENST00000221856.11	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
FSD2_chr15_82750362_82811069	82778127	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03654.hp1 HG02486.hp1 HG03654.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0032 a0001c0001t0002 a0003c0004t0032	a0001c0001t0002g0087 a0003c0004t0032g0138 a0001c0001t0002g0087 a0003c0004t0032g0138	2	384	0.0052	30	c.111 others(47): Show c.1111+609_1111+638dupATATATATATATATATATATATATATAT AT		FSD2	ENSG00000186628.12	transcript	ENST00000334574.12	protein_coding	6/12						chr15	TogoVar
FSHR_chr2_48957157_49159515	49013463	A A	AATATATA others(23): Show AATATATATATATATATATAAATAAATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	350	0.0029	30	c.374 others(47): Show c.374+4025_374+4026insATATATTTATTTATATATATATATATAT AT		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	4/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49013487	T T	TATATATA others(23): Show TATATATATATAAATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0015 a0003c0003t0002g0015	1	350	0.0029	30	c.374 others(47): Show c.374+4001_374+4002insTTATTTATATATATATATTTATATATAT AT		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	4/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(23): Show CTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	350	0.0029	30	c.225 others(47): Show c.225-1704_225-1703insTATATATATATATATATATATAGAGAGA GA		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA20805.hp2 HG00438.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0318 a0002c0002t0001g0218 a0001c0001t0001g0318 a0002c0002t0001g0218	2	350	0.0057	30	c.225 others(47): Show c.225-1704_225-1703insTATATATATATATATATAGAGAGAGAGA GA		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18973.hp2 HG02132.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0122 a0001c0001t0002g0084 a0001c0001t0002g0122	2	350	0.0057	30	c.225 others(47): Show c.225-1704_225-1703insTATATATATATATATAGAGAGAGAGAGA GA		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	350	0.0029	30	c.225 others(47): Show c.225-1704_225-1703insTATAGAGAGAGAGAGAGAGAGAGAGAGA GA		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(23): Show TATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	350	0.0029	30	c.225 others(47): Show c.225-1727_225-1726insCTCTCTCTCTCTCTCTCTATATATATAT AT		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(23): Show TATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18959.hp1 HG02145.hp1 NA18959.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0095 a0003c0003t0001g0149 a0002c0002t0002g0095 a0003c0003t0001g0149	2	350	0.0057	30	c.225 others(47): Show c.225-1727_225-1726insCTCTCTCTCTATATATATATATATATAT AT		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(23): Show TATATATATATATATATATATATATATAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0176 a0003c0003t0003g0176	1	350	0.0029	30	c.225 others(47): Show c.225-1727_225-1726insCTTTATATATATATATATATATATATAT AT		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(23): Show TATATATATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0163 a0003c0003t0001g0163	1	350	0.0029	30	c.225 others(47): Show c.225-1727_225-1726insCTCTATATATATATATATATATATATAT AT		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49049824	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02717.hp2 others(1): Show HG01891.hp2 HG02109.hp2 HG02717.hp2 HG03471.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 others(1): Show a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0003c0003t0001g0145	4	350	0.0114	30	c.224 others(49): Show c.224+18394_224+18395insATATATATATATATATATATATATAT ATAT		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9						chr2	TogoVar
FSHR_chr2_48957157_49159515	49089093	C C	CTAATATA others(23): Show CTAATATAATATAATATAATATAATATAATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02559.hp1 others(6): Show HG01891.hp1 HG02145.hp1 HG02559.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG03516.hp2 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0001 a0003c0003t0003	a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 others(6): Show a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0003g0155 a0003c0003t0003g0159 a0003c0003t0003g0160	9	350	0.0257	30	c.153 others(49): Show c.153-20804_153-20803insTATTATATTATATTATATTATATTAT ATTA		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9						chr2	TogoVar
FSTL4_chr5_133191455_133617541	133352295	C C	CACACACA others(23): Show CACACACATATATATATACACACATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	176	0.0057	30	c.410 others(49): Show c.410-35673_410-35644dupATATATATGTGTGTATATATATATGT GTGT		FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	4/15						chr5	TogoVar
FSTL4_chr5_133191455_133617541	133375291	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03486.hp1 NA20905.hp2 HG02896.hp1 HG03486.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0002c0002t0018 a0001c0001t0001 a0001c0001t0008 a0002c0002t0018	a0001c0001t0001g0159 a0001c0001t0008g0120 a0002c0002t0018g0173 a0001c0001t0001g0159 a0001c0001t0008g0120 a0002c0002t0018g0173	3	176	0.0171	30	c.409 others(49): Show c.409+25446_409+25447insATATATATATATATATATATATATAT ATAT		FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	4/15						chr5	TogoVar
FSTL4_chr5_133191455_133617541	133470746	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	176	0.0057	30	c.161 others(49): Show c.161-69790_161-69761dupATTTTATTTTATTTTATTTTATTTTA TTTT		FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15						chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	176	0.0057	30	c.160 others(49): Show c.160+49738_160+49739insATATATATATATATATATTTTTTTTT TTTT		FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15						chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	176	0.0057	30	c.160 others(49): Show c.160+49738_160+49739insATATATATATATATATATATTTTTTT TTTT		FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15						chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp1 HG00733.hp2 HG01070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0005	a0001c0001t0001g0047 a0002c0002t0005g0127 a0001c0001t0001g0047 a0002c0002t0005g0127	2	176	0.0114	30	c.160 others(49): Show c.160+49738_160+49739insATATATATATATATATATATATTTTT TTTT		FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15						chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03688.hp1 HG00639.hp1 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0005 a0001c0001t0006 a0002c0002t0005	a0001c0001t0006g0017 a0002c0002t0005g0005 a0001c0001t0006g0017 a0002c0002t0005g0005	2	176	0.0114	30	c.160 others(49): Show c.160+49738_160+49739insATATATATATATATATATATATATAT TTTT		FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15						chr5	TogoVar
FSTL5_chr4_161378897_162169000	161437565	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02895.hp2 HG02976.hp2 others(5): Show HG00621.hp2 HG02895.hp2 HG02976.hp2 HG03471.hp1 HG03516.hp2 HG04228.hp1 NA18964.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 a0001c0002t0018 a0001c0003t0013 a0001c0010t0002	a0001c0001t0001g0021 a0001c0001t0001g0082 a0001c0001t0001g0093 others(5): Show a0001c0001t0001g0021 a0001c0001t0001g0082 a0001c0001t0001g0093 a0001c0001t0013g0076 a0001c0002t0001g0062 a0001c0002t0018g0088 a0001c0003t0013g0102 a0001c0010t0002g0011	8	142	0.0563	30	c.184 others(51): Show c.1841+17438_1841+17439insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	15/15						chr4	TogoVar

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