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
SPDYE21_chr7_67271941_67294005	67278125	T T	TACATGAT others(35): Show TACATGATAATCTCACTCTTGCACATGATAATCTCACTCTTGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0149 a0003c0003t0002g0149	1	339	0.0029	42	c.-42 others(59): Show c.-422-126_-422-125insCACATGATAATCTCACTCTTGCACATGA TAATCTCACTCTTG	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67278212	A A	ATGATAAT others(35): Show ATGATAATCTCACTCTTGTACATGATAATCTCACTCTTGTACG	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18612.hp1 HG02300.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0062 a0001c0001t0006g0062	2	438	0.0046	42	c.-42 others(57): Show c.-422-64_-422-63insGTACATGATAATCTCACTCTTGTACGTGAT AATCTCACTCTT	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102646940	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01081.hp2 HG01433.hp1 others(9): Show HG01070.hp1 HG01081.hp2 HG01433.hp1 HG01978.hp2 HG02135.hp2 HG02148.hp1 HG03491.hp1 HG03927.hp1 HG04228.hp1 NA19005.hp1 NA19062.hp1 NA19085.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0010	a0001c0001 a0002c0002 a0005c0006 others(1): Show a0001c0001 a0002c0002 a0005c0006 a0010c0020	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0002c0002t0001 a0005c0006t0007 a0005c0006t0030 a0010c0020t0007	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0027 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0006g0016 a0001c0001t0006g0026 a0001c0001t0008g0032 a0002c0002t0001g0008 a0002c0002t0001g0033 a0005c0006t0007g0036 a0005c0006t0030g0037 a0010c0020t0007g0038	12	105	0.1143	42	c.-38 others(53): Show c.-3859_-3858insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		3378		chr7	TogoVar
SPDYE5_chr7_75487320_75509316	75493495	T T	TCTCTTGT others(35): Show TCTCTTGTACATGATAATCTCACTCTTGTACATGATAATCTCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01109.hp2 HG01192.hp1 others(27): Show HG00558.hp2 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01934.hp2 HG02080.hp2 HG02155.hp2 HG02258.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02895.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG04228.hp1 NA18906.hp2 NA18950.hp1 NA18962.hp1 NA18985.hp2 NA19056.hp2 NA19084.hp2 NA19091.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0017 a0001c0001 a0002c0002 a0002c0017	a0001c0001t0001 a0002c0002t0004 a0002c0002t0005 others(3): Show a0001c0001t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0014 a0002c0017t0004	a0001c0001t0001g0012 a0001c0001t0001g0067 a0001c0001t0001g0068 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0002c0002t0004g0006 a0002c0002t0004g0044 a0002c0002t0004g0045 a0002c0002t0004g0131 a0002c0002t0004g0132 a0002c0002t0004g0136 a0002c0002t0004g0137 a0002c0002t0005g0012 a0002c0002t0006g0142 a0002c0002t0014g0145 a0002c0002t0014g0146 a0002c0002t0014g0147 a0002c0017t0004g0138	30	146	0.2055	42	c.-42 others(58): Show c.-421-105_-421-64dupGTACATGATAATCTCACTCTTGTACATGA TAATCTCACTCTT	SPDYE5	ENSG00000170092.15	transcript	ENST00000625065.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPECC1_chr17_20004359_20324026	20021702	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0069 a0004c0005t0069	a0004c0005t0069g0232 a0004c0005t0069g0232	1	38	0.0263	42	c.-22 others(61): Show c.-22+12279_-22+12280insATATATATATATATATATATATATAT ATATATATTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20251224	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03209.hp1 HG02145.hp2 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0045 a0001c0006t0046 a0001c0006t0045 a0001c0006t0046	a0001c0006t0045g0068 a0001c0006t0046g0071 a0001c0006t0045g0068 a0001c0006t0046g0071	2	55	0.0364	42	c.259 others(61): Show c.2599-2264_2599-2263insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20294669	A A	ATGGTGGT others(35): Show ATGGTGGTGGGGATGATGGTCATGGTTATGAAGGTACTGATGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19043.hp1 HG01934.hp1 NA19043.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0042 a0003c0012t0049 a0003c0012t0042 a0003c0012t0049	a0003c0012t0042g0100 a0003c0012t0049g0098 a0003c0012t0042g0100 a0003c0012t0049g0098	2	211	0.0095	42	c.294 others(61): Show c.2941-2251_2941-2250insGTGGTGGTGGGGATGATGGTCATGGT TATGAAGGTACTGATG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35751096	C C	CACACACA others(35): Show CACACACACACACACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03195.hp1 HG01243.hp2 HG03195.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0165 a0008c0009t0001g0167 a0008c0009t0001g0165 a0008c0009t0001g0167	2	110	0.0182	42	c.333 others(61): Show c.3331-2527_3331-2526insCACACACACACACACACACATATATA TATATATATATATATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEM2_chr17_7420616_7432568	7429580	A A	AGGGAGTC others(35): Show AGGGAGTCTGCACGGGGACTGTACAAGGCGGGGATGATGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	42	c.20 others(53): Show c.2083_*2084insGGGAGTCTGCACGGGGACTGTACAAGGCGGGGAT GATGGGCG	SPEM2	ENSG00000184560.8	transcript	ENST00000333870.8	protein_coding		2013		chr17	TogoVar
SPHKAP_chr2_227974955_228186687	228113603	A A	ATCTCTCT others(35): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0162 a0002c0002t0001g0162	1	20	0.0500	42	c.139 others(59): Show c.139-4706_139-4665dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02071.hp2 HG00733.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0036 a0001c0001t0003g0023 a0001c0001t0002g0036 a0001c0001t0003g0023	2	108	0.0185	42	c.53- others(57): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TACACATA others(35): Show TACACATATATATATATATATATATACACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03041.hp1 HG03540.hp1 HG02109.hp2 HG03041.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	3	239	0.0126	42	c.294 others(57): Show c.294-615_294-614insCACATATATATATATATATATATACACATA TATATATACACA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPIRE1_chr18_12441512_12663107	12461440	A A	ATATGTAC others(35): Show ATATGTACGTACATACATGTGTGTATGTACGTACATATGTACG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0001 a0001c0001t0018g0001	1	194	0.0052	42	c.163 others(61): Show c.1638+1910_1638+1911insCGTACATATGTACGTACATACACACA TGTATGTACGTACATA	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	12/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(35): Show AAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	30	0.0333	42	c.180 others(59): Show c.1807-513_1807-512insAAAAAAAATATATATATATATATATATA TATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(35): Show AAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0010 a0001c0009t0001g0010	1	30	0.0333	42	c.180 others(59): Show c.1807-513_1807-512insAAAAAATATATATATATATATATATATA TATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAATA others(35): Show AAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19081.hp1 HG00438.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0195 a0001c0001t0001g0077 a0001c0001t0001g0195	2	31	0.0645	42	c.180 others(59): Show c.1807-513_1807-512insAAAATATATATATATATATATATATATA TATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	35	0.0286	42	c.-12 others(53): Show c.-1200_-1199insAAAAAAAAAAAAAAAATATATATATATATATATA TATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0094 a0001c0003t0002g0094	1	63	0.0159	42	c.347 others(59): Show c.347+8590_347+8591insATATATATATATATATATATATATTTTT TTTTTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(35): Show CATATATATACATATATATATATATATATATATGTGTATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	46	0.0217	42	c.589 others(61): Show c.589+28327_589+28328insATATATACACATATATATATATATAT ATATATGTATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(35): Show CATATATATACATATATATATATATATATATGTGTATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0002 a0002c0008t0003g0002	1	46	0.0217	42	c.589 others(61): Show c.589+28327_589+28328insATATATATACACATATATATATATAT ATATATGTATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATGTATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0002 a0001c0005t0002 a0002c0003t0002 a0001c0001t0002 a0001c0005t0002 a0002c0003t0002	a0001c0001t0002g0014 a0001c0005t0002g0006 a0002c0003t0002g0138 a0001c0001t0002g0014 a0001c0005t0002g0006 a0002c0003t0002g0138	3	48	0.0625	42	c.589 others(61): Show c.589+28327_589+28328insATATATACATATATATATATATATAT ATATATATATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14139709	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0107 a0001c0004t0001g0107	1	135	0.0074	42	c.825 others(59): Show c.825+4157_825+4158insATATATATATATATATATATATATATAT ATATATATATATAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPPL3_chr12_120757510_120909358	120830501	A A	AGAAGGAG others(35): Show AGAAGGAGGAGGGGGAAGGGGAGGGGGGAAGAAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG03017.hp2 others(3): Show HG00639.hp1 HG01074.hp2 HG03017.hp2 HG03831.hp2 HG03942.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0008 a0001c0001t0010g0009 a0001c0001t0010g0010 others(3): Show a0001c0001t0010g0008 a0001c0001t0010g0009 a0001c0001t0010g0010 a0001c0001t0010g0011 a0001c0001t0010g0012 a0001c0001t0010g0013	6	318	0.0189	42	c.24- others(59): Show c.24-19616_24-19615insCCCCTCCCCCTTCTTCCCCCCTCCCCTT CCCCCTCCTCCTTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRR2E_chr1_153088135_153099526	153089107	A A	AGGTTGGG others(35): Show AGGTTGGGGCAAAGTGGCTGGGGCAAAGTGGCTGGGGCAAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG02132.hp2 others(12): Show HG00423.hp2 HG00558.hp1 HG02132.hp2 NA18747.hp2 NA18943.hp2 NA18953.hp2 NA18957.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp1 NA18994.hp1 NA18998.hp2 NA19078.hp1 NA19083.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0001 a0001c0001t0001g0010	15	451	0.0333	42	c.44 others(53): Show c.4425_*4426insACTTTGCCCCAGCCACTTTGCCCCAGCCACTTTG CCCCAACC	SPRR2E	ENSG00000203785.9	transcript	ENST00000368750.8	protein_coding		4027		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00642.hp1 others(26): Show HG00140.hp1 HG00609.hp1 HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01517.hp1 HG01884.hp1 HG02004.hp2 HG02074.hp1 HG02109.hp2 HG02451.hp2 HG02723.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03516.hp1 HG04184.hp2 NA18957.hp2 NA18961.hp1 NA18988.hp1 NA18990.hp1 NA19065.hp2 NA19084.hp2 NA19086.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0006 a0001c0001t0017 a0001c0001t0020 others(15): Show a0001c0001t0006 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0034 a0001c0001t0049 a0001c0001t0073 a0001c0001t0093 a0001c0001t0124 a0001c0001t0125 a0001c0001t0133 a0001c0002t0032 a0001c0002t0033 a0001c0002t0074 a0001c0002t0121 a0001c0002t0122 a0001c0002t0123 a0003c0005t0048	a0001c0001t0006g0020 a0001c0001t0006g0034 a0001c0001t0006g0035 others(26): Show a0001c0001t0006g0020 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0040 a0001c0001t0006g0052 a0001c0001t0006g0129 a0001c0001t0017g0197 a0001c0001t0017g0200 a0001c0001t0020g0031 a0001c0001t0020g0032 a0001c0001t0022g0107 a0001c0001t0022g0110 a0001c0001t0034g0010 a0001c0001t0034g0025 a0001c0001t0049g0041 a0001c0001t0073g0014 a0001c0001t0093g0078 a0001c0001t0124g0146 a0001c0001t0125g0142 a0001c0001t0133g0127 a0001c0002t0032g0068 a0001c0002t0032g0070 a0001c0002t0033g0059 a0001c0002t0033g0108 a0001c0002t0074g0007 a0001c0002t0121g0148 a0001c0002t0122g0221 a0001c0002t0123g0024 a0003c0005t0048g0219	29	30	0.9667	42	c.29 others(53): Show c.2906_*2907insATATATATATATATATATATATATATATATGTAA ATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2907	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TTTATATA others(35): Show TTTATATATATATATATATATATATATATATATATATATGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0073 a0001c0001t0090g0073	1	2	0.5000	42	c.28 others(53): Show c.2898_*2899insTTATATATATATATATATATATATATATATATAT ATATGTAA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2899		chrX	TogoVar
SPTBN1_chr2_54451327_54676446	54522646	A A	AAGAAAGA others(35): Show AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19012.hp2 NA19056.hp2 NA18951.hp2 NA19012.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0001t0044 a0001c0003t0009 a0001c0001t0007 a0001c0001t0044 a0001c0003t0009	a0001c0001t0007g0292 a0001c0001t0044g0297 a0001c0003t0009g0235 a0001c0001t0007g0292 a0001c0001t0044g0297 a0001c0003t0009g0235	3	338	0.0089	42	c.-47 others(59): Show c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG AGGAGAGAGAGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(35): Show GAGAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0016 a0001c0012t0016	a0001c0012t0016g0135 a0001c0012t0016g0135	1	136	0.0074	42	c.-47 others(59): Show c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAAAGAGAAA GAAAGAAAGAAAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTLC2_chr14_77500997_77621637	77531443	T T	TCTTCTTC others(35): Show TCTTCTTCTTCTTCTTCTCCTCCTCCTTCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02145.hp1 HG01081.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0026 a0001c0001t0021 a0001c0001t0026	a0001c0001t0021g0003 a0001c0001t0026g0159 a0001c0001t0021g0003 a0001c0001t0026g0159	2	219	0.0091	42	c.130 others(61): Show c.1304-9863_1304-9862insGAGGAGGAGGAGGAGAAGGAGGAGGA GAAGAAGAAGAAGAAG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13038045	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0048 a0001c0005t0048	a0001c0005t0048g0164 a0001c0005t0048g0164	1	257	0.0039	42	c.118 others(61): Show c.118-10885_118-10884insTATATATATATATATATATATATATA TATATATATATATATA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRD5A2_chr2_31517480_31585938	31526104	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 NA19030.hp1 HG01891.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0030 a0004c0005t0015 a0001c0001t0030 a0004c0005t0015	a0001c0001t0030g0157 a0004c0005t0015g0151 a0001c0001t0030g0157 a0004c0005t0015g0151	2	316	0.0063	42	c.91 others(49): Show c.91_*92insATATATATATATATATATATATATATATATATATATAT ATAT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	5/5	91		chr2	TogoVar
SRGAP2C_chr1_121179975_121397874	121396325	C C	CCGCCGCC others(35): Show CCGCCGCCGCGGCTTTTTGCCCGCCGCGGATTTGTGCCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 NA18968.hp1 NA18970.hp2 others(2): Show HG00609.hp2 NA18968.hp1 NA18970.hp2 NA18991.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0176 others(2): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0176 a0001c0001t0015g0153 a0001c0001t0015g0175	5	272	0.0184	42	c.84 others(53): Show c.8470_*8471insCGCCGCCGCGGCTTTTTGCCCGCCGCGGATTTGT GCCCCCCT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding		3452		chr1	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	97	0.0103	42	c.-34 others(59): Show c.-34+5364_-34+5365insAAAAAAAAAAAAAATATATATATATATA TATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	97	0.0103	42	c.-34 others(59): Show c.-34+5364_-34+5365insAAAAAAAAAAAATATATATATATATATA TATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(35): Show AAAAAAAATATATATATATATAACATATATATATATATAACAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18612.hp1 NA18945.hp2 HG00621.hp1 NA18612.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302	3	99	0.0303	42	c.-34 others(59): Show c.-34+5364_-34+5365insAAAAAATATATATATATATAACATATAT ATATATATAACATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAT others(35): Show AAAAAAATATATATATATATATATCATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	97	0.0103	42	c.-34 others(59): Show c.-34+5364_-34+5365insAAAAATATATATATATATATATCATATA TATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAATA others(35): Show AAAAAATATATATATATATATAACATATATATATATATAACAT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0357 a0001c0001t0002g0357	1	97	0.0103	42	c.-34 others(59): Show c.-34+5364_-34+5365insAAAATATATATATATATATAACATATAT ATATATATAACATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAATAT others(35): Show AAAAATATATATATATATATATATCATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	97	0.0103	42	c.-34 others(59): Show c.-34+5364_-34+5365insAAATATATATATATATATATATCATATA TATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062503	A A	ATATATAA others(35): Show ATATATAATATACATTATATATTATATAATATACATTATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp1 HG01934.hp1 others(2): Show HG01109.hp2 HG01361.hp1 HG01934.hp1 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0092 a0001c0001t0002g0128 a0001c0001t0002g0182 others(2): Show a0001c0001t0002g0092 a0001c0001t0002g0128 a0001c0001t0002g0182 a0001c0001t0002g0186 a0001c0002t0001g0157	5	341	0.0147	42	c.562 others(57): Show c.562-971_562-930dupATATATAATGTATATTATATAATATATAAT GTATATTATATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062566	T T	TTATATAA others(35): Show TTATATAATATACATTATATATTATATAATATACATTATATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	303	0.0033	42	c.562 others(57): Show c.562-993_562-992insTTATATAATGTATATTATATAATATATAAT GTATATTATATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062615	A A	ATATACAT others(35): Show ATATACATTATATATTATATAATATACAATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19004.hp1 NA19058.hp1 NA18946.hp1 NA19004.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0096 a0001c0001t0002g0107 a0001c0001t0002g0108	3	304	0.0099	42	c.562 others(59): Show c.562-1042_562-1041insATATATAATATATATTGTATATTATATA ATATATAATGTATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062643	A A	ATATATAA others(35): Show ATATATAATATACATTATATATTATATAATATATAATATACAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02615.hp2 others(6): Show HG01884.hp2 HG02109.hp1 HG02615.hp2 HG02622.hp1 HG02976.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0139 a0001c0003t0001g0297 a0001c0003t0001g0299 others(6): Show a0001c0001t0002g0139 a0001c0003t0001g0297 a0001c0003t0001g0299 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0001g0305 a0001c0003t0001g0311 a0001c0003t0001g0322	9	352	0.0256	42	c.562 others(59): Show c.562-1070_562-1069insATGTATATTATATATTATATAATATATA ATGTATATTATATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062664	A A	ATATATAA others(35): Show ATATATAATATACATTATATATTATATAATATATAATATACAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	345	0.0029	42	c.562 others(59): Show c.562-1091_562-1090insATGTATATTATATATTATATAATATATA ATGTATATTATATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062730	T T	TATATATA others(35): Show TATATATATATATATATATATAAAATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0290 a0003c0010t0001g0290	1	349	0.0029	42	c.562 others(59): Show c.562-1157_562-1156insTTTATATATATATATATATTTTATATAT ATATATATATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062732	T T	TATATATA others(35): Show TATATATATATATATAAAATATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0308 a0001c0003t0001g0308	1	355	0.0028	42	c.562 others(59): Show c.562-1159_562-1158insTTTATATATATATATATATATATATTTT ATATATATATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRRM4_chr12_118976541_119168051	119008426	T T	TCTACTCT others(35): Show TCTACTCTTATCTAATGTTGTGTAACACCTAACCATGTTGGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp2 HG02976.hp2 others(1): Show HG02257.hp2 HG02922.hp2 HG02976.hp2 NA19030.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0011 a0003c0003 others(1): Show a0001c0001 a0001c0011 a0003c0003 a0008c0020	a0001c0001t0024 a0001c0011t0025 a0003c0003t0024 others(1): Show a0001c0001t0024 a0001c0011t0025 a0003c0003t0024 a0008c0020t0042	a0001c0001t0024g0210 a0001c0011t0025g0006 a0003c0003t0024g0300 others(1): Show a0001c0001t0024g0210 a0001c0011t0025g0006 a0003c0003t0024g0300 a0008c0020t0042g0004	4	323	0.0124	42	c.131 others(61): Show c.131+26500_131+26541dupACTCTTATCTAATGTTGTGTAACACC TAACCATGTTGGAGCT	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0240 a0001c0001t0008g0240	1	76	0.0132	42	c.276 others(61): Show c.276+15177_276+15178insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	190	0.0053	42	c.138 others(59): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATATATTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19012.hp2 HG01081.hp2 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0143 a0002c0002t0002g0024 a0001c0001t0001g0143 a0002c0002t0002g0024	2	191	0.0105	42	c.138 others(59): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02027.hp1 NA18939.hp2 HG00408.hp2 HG02027.hp1 NA18939.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0090 a0002c0003t0001g0104 a0002c0003t0002g0105 a0001c0001t0001g0090 a0002c0003t0001g0104 a0002c0003t0002g0105	3	192	0.0156	42	c.138 others(59): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar

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