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
SPINK13_chr5_148263794_148291255	148268759	T T	TACAGACT others(34): Show TACAGACTCCTGGAACAGCAGCTCTTCTCAAGGCTAGTTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp1 others(124): Show HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG01069.hp2 HG01071.hp1 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18965.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18990.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19055.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(58): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0002g0004 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0003g0017 a0001c0001t0003g0025 a0001c0001t0003g0056 a0001c0001t0003g0103 a0001c0001t0003g0133 a0002c0002t0001g0111	127	374	0.3396	41	c.-16 others(50): Show c.-163_-162insACAGACTCCTGGAACAGCAGCTCTTCTCAAGGCTAG TTGTG	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding		34		chr5	TogoVar
SPINK6_chr5_148198042_148220137	148212704	C C	CAATATAT others(34): Show CAATATATAGTTTATATATTTTATATAAACTATATATTTATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp2 HG01884.hp1 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0120 a0002c0002t0001g0073 a0002c0002t0001g0120	2	436	0.0046	41	c.82- others(56): Show c.82-1205_82-1165dupAATATATAGTTTATATATTTTATATAAACT ATATATTTATA	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148212705	A A	AATATATA others(34): Show AATATATAGTTTATATATTTTATATAAACTATATATTTATAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02257.hp1 HG02258.hp2 others(32): Show HG01496.hp1 HG02257.hp1 HG02258.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02717.hp1 HG03195.hp2 HG03453.hp1 HG03579.hp2 NA18522.hp2 NA18612.hp2 NA18941.hp2 NA18945.hp2 NA18953.hp1 NA18965.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18981.hp1 NA18990.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19064.hp2 NA19066.hp2 NA19075.hp1 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0025 others(13): Show a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0025 a0002c0002t0001g0119 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0186	35	433	0.0808	41	c.82- others(56): Show c.82-1202_82-1162dupATATAGTTTATATATTTTATATAAACTATA TATTTATACAT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148212705	A A	AATATATA others(34): Show AATATATAGTTTATATATTTTGTATAAACTATATATTTATAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02155.hp2 HG03688.hp2 HG02015.hp2 HG02155.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0184 a0002c0002t0001g0059 a0002c0002t0001g0184	3	401	0.0075	41	c.82- others(56): Show c.82-1185_82-1184insGTATAAACTATATATTTATACATATATAGT TTATATATTTT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINT4_chr20_45717347_45730830	45728372	C C	CAAAAGCA others(34): Show CAAAAGCAATTGCCAACAAAAATAAATAAATAGCAAAATTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	231	0.0043	41	c.27 others(52): Show c.2737_*2738insAAAAGCAATTGCCAACAAAAATAAATAAATAGCA AAATTAA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding		2543		chr20	TogoVar
SPIRE1_chr18_12441512_12663107	12596875	C C	CCCTGCAC others(34): Show CCCTGCACTGTCCTGCTAACCCCCTTCCTGTTTCCTCCTTCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02886.hp2 HG02965.hp2 HG00639.hp1 HG02886.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0018 a0001c0001t0031 a0001c0001t0005 a0001c0001t0018 a0001c0001t0031	a0001c0001t0005g0262 a0001c0001t0018g0001 a0001c0001t0031g0269 a0001c0001t0005g0262 a0001c0001t0018g0001 a0001c0001t0031g0269	3	319	0.0094	41	c.372 others(60): Show c.372+38146_372+38186dupTGAAGGAGGAAACAGGAAGGGGGTTA GCAGGACAGTGCAGG	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12596914	T T	TCACCTGC others(34): Show TCACCTGCACTGTCCTGCTAACCCCCTTCCTGTTTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0005 a0001c0001t0019g0005	1	326	0.0031	41	c.372 others(60): Show c.372+38107_372+38147dupGAGGAGGAAACAGGAAGGGGGTTAGC AGGACAGTGCAGGTG	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	138	0.0072	41	c.372 others(60): Show c.372+19716_372+19717insATATATATATATATATATATATTTTT TTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89852564	C C	CTCTCACC others(34): Show CTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02970.hp2 HG03927.hp2 others(1): Show HG02135.hp1 HG02970.hp2 HG03927.hp2 NA18984.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0069 a0001c0001t0001g0147 a0001c0001t0001g0171 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0147 a0001c0001t0001g0171 a0003c0004t0001g0064	4	251	0.0159	41	c.646 others(58): Show c.646-1722_646-1721insTCTCACCCCCCGGATCCCATGATCCATC TTCCATCCTCCCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02293.hp1 HG00408.hp1 HG02293.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0009 a0003c0004t0001 a0001c0001t0009 a0003c0004t0001	a0001c0001t0009g0145 a0003c0004t0001g0027 a0001c0001t0009g0145 a0003c0004t0001g0027	2	31	0.0645	41	c.180 others(58): Show c.1807-513_1807-512insAAAAAAAAAAAAATATATATATATATAT ATATATATATATA	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(34): Show AAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	30	0.0333	41	c.180 others(58): Show c.1807-513_1807-512insAAAAAAAAATATATATATATATATATAT ATATATATATATA	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(34): Show AAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA18939.hp1 HG01168.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0223 a0001c0001t0001g0038 a0001c0001t0001g0223	2	31	0.0645	41	c.180 others(58): Show c.1807-513_1807-512insAAAAAAATATATATATATATATATATAT ATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAC others(34): Show AAAAAAACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0338 a0001c0001t0003g0338	1	30	0.0333	41	c.180 others(58): Show c.1807-513_1807-512insAAAAACATATATATATATATATATATAT ATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0001 a0009c0022t0001	a0009c0022t0001g0034 a0009c0022t0001g0034	1	30	0.0333	41	c.180 others(58): Show c.1807-513_1807-512insAAAAATATATATATATATATATATATAT ATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAACAAAC others(34): Show AAACAAACATATATATATGTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0334 a0001c0001t0003g0334	1	30	0.0333	41	c.180 others(58): Show c.1807-513_1807-512insACAAACATATATATATGTATATATATAT ATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAATATAT others(34): Show AAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0314 a0001c0001t0004g0314	1	30	0.0333	41	c.180 others(58): Show c.1807-513_1807-512insATATATATATATATATATATATATATAT ATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS3_chr17_4428940_4493204	4458621	C C	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0116 a0003c0005t0001g0116	1	308	0.0032	41	c.111 others(60): Show c.1113+5444_1113+5445insTTTCTTTCTTTCTTTTCTTTCTTTCT TTCTTTCTTTCTTTC	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPPL2B_chr19_2323684_2360095	2347136	T T	TACGCGCT others(34): Show TACGCGCTCTCATTCGCCTGATTCCGTTCTCTCTCCACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18944.hp1 NA18998.hp2 others(1): Show HG00423.hp2 NA18944.hp1 NA18998.hp2 NA19000.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0024 a0001c0002 a0006c0024	a0001c0002t0001 a0006c0024t0002 a0001c0002t0001 a0006c0024t0002	a0001c0002t0001g0034 a0001c0002t0001g0124 a0006c0024t0002g0064 a0001c0002t0001g0034 a0001c0002t0001g0124 a0006c0024t0002g0064	4	406	0.0099	41	c.135 others(60): Show c.1354+1820_1354+1821insGCCTGATTCCGTTCTCTCTCCACACA CACGCGCTCTCATTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2348029	A A	ACACACAC others(34): Show ACACACACTCACGTTCTCATTCGCGTGATTCCGTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0154 a0002c0005t0007g0154	1	412	0.0024	41	c.135 others(60): Show c.1354+2705_1354+2706insCTCACGTTCTCATTCGCGTGATTCCG TTCTCTCTCCACACA	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2348391	A A	ACACACAC others(34): Show ACACACACTCGCGTTCTCATTCGCGTGATTCCGTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0159 a0002c0005t0004g0159	1	411	0.0024	41	c.135 others(60): Show c.1355-3037_1355-3036insCTCGCGTTCTCATTCGCGTGATTCCG TTCTCTCTCCACACA	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2348702	C C	CTCTCTCC others(34): Show CTCTCTCCACACACACTCACGCTCTCATTCGCTTGATTCCGT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	412	0.0024	41	c.135 others(60): Show c.1355-2725_1355-2685dupCACACACACTCACGCTCTCATTCGCT TGATTCCGTTCTCTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2349182	G G	GCGCTCTC others(34): Show GCGCTCTCATTCGCTTGATTCCGTTCTCTCCACACACACTCA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01952.hp1 HG00544.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0288 a0001c0004t0001g0194 a0001c0001t0002g0288 a0001c0004t0001g0194	2	252	0.0079	41	c.135 others(60): Show c.1355-2248_1355-2247insCTCATTCGCTTGATTCCGTTCTCTCC ACACACACTCACGCT	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL3_chr12_120757510_120909358	120852432	C C	CATATATG others(34): Show CATATATGAAATATATGCATATATAATATACATATTTTACAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp2 HG01169.hp2 others(8): Show HG00738.hp2 HG01168.hp2 HG01169.hp2 HG01884.hp2 HG02698.hp2 HG02922.hp1 HG03209.hp1 HG03491.hp1 HG03831.hp1 HG04184.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 others(2): Show a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0003t0009 a0001c0004t0009	a0001c0001t0009g0209 a0001c0001t0009g0214 a0001c0001t0009g0217 others(8): Show a0001c0001t0009g0209 a0001c0001t0009g0214 a0001c0001t0009g0217 a0001c0001t0012g0132 a0001c0001t0012g0192 a0001c0001t0016g0189 a0001c0003t0009g0215 a0001c0003t0009g0216 a0001c0003t0009g0218 a0001c0004t0009g0210 a0001c0004t0009g0212	11	154	0.0714	41	c.24- others(58): Show c.24-41547_24-41546insATGTAAAATATGTATATTATATATGCAT ATATTTCATATAT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144883343	C C	CGGGGGGA others(34): Show CGGGGGGAAAAAGCCGTGGCGGGCAGAAAGGCGCGGCGGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	46	0.0217	41	c.88 others(52): Show c.8816_*8817insACGCCGCCGCGCCTTTCTGCCCGCCACGGCTTTT TCCCCCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3944		chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9086713	C C	CACATATA others(34): Show CACATATACATATAATATGTATTTTATATGTATATATGTATT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02145.hp2 others(5): Show HG01109.hp1 HG02109.hp2 HG02145.hp2 HG02572.hp2 HG03516.hp2 HG03540.hp2 NA19030.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0014 a0001c0001 a0001c0004 a0002c0014	a0001c0001t0005 a0001c0001t0009 a0001c0001t0020 others(4): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0020 a0001c0001t0023 a0001c0004t0002 a0001c0004t0009 a0002c0014t0029	a0001c0001t0005g0080 a0001c0001t0009g0179 a0001c0001t0020g0069 others(5): Show a0001c0001t0005g0080 a0001c0001t0009g0179 a0001c0001t0020g0069 a0001c0001t0023g0071 a0001c0001t0023g0134 a0001c0004t0002g0070 a0001c0004t0009g0164 a0002c0014t0029g0038	8	220	0.0364	41	c.424 others(58): Show c.424-6667_424-6627dupAATACATATATACATATAAAATACATAT TATATGTATATGT	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	3/21			chr3	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	97	0.0103	41	c.-34 others(58): Show c.-34+5364_-34+5365insAAAAAAAAAAAAAAATATATATATATAT ATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0006 a0006	a0006c0024 a0006c0024	a0006c0024t0001 a0006c0024t0001	a0006c0024t0001g0109 a0006c0024t0001g0109	1	190	0.0053	41	c.138 others(58): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATTTTTTTT	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(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02132.hp2 HG00597.hp1 HG02132.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0116 a0002c0003t0002g0047 a0001c0001t0001g0116 a0002c0003t0002g0047	2	191	0.0105	41	c.138 others(58): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSPN_chr12_26190573_26239777	26201024	T T	TATAAAAT others(34): Show TATAAAATATATATATATATAAATAATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	364	0.0027	41	c.279 others(58): Show c.279+5076_279+5077insAAATATATATATATATAAATAATATATA TATATATATAATA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSPN_chr12_26190573_26239777	26201031	A A	ATATTATA others(34): Show ATATTATATATATATATAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	332	0.0030	41	c.279 others(58): Show c.279+5083_279+5084insTATATATATATATAATATATATATATAT ATATATATATTAT	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSPN_chr12_26190573_26239777	26238797	T T	TTGAGCAT others(34): Show TTGAGCATTATTGACTCAAGTGCTCAAGTGCTCTGTATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0056 a0001c0001t0045g0056	1	382	0.0026	41	c.77 others(52): Show c.7721_*7722insTGAGCATTATTGACTCAAGTGCTCAAGTGCTCTG TATGAAG	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding		4021		chr12	TogoVar
SSTR5_chr16_1067747_1086454	1076184	T T	TCCCTCTC others(34): Show TCCCTCTCCCTCCCCCCCTCACCTCCCCTCCCTTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0088 a0001c0005t0006g0088	1	332	0.0030	41	c.-27 others(58): Show c.-27-2658_-27-2657insCCCTCTCCCTCCCCCCCTCACCTCCCCT CCCTTTCCCTCCC	SSTR5	ENSG00000162009.10	transcript	ENST00000689027.1	protein_coding	1/1			chr16	TogoVar
SSX4B_chrX_48397082_48416960	48407117	C C	CTTTAAAT others(34): Show CTTTAAATGTAGTAATAATAAAAAACTAATACTTTTCATGAT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	180	0.0056	41	c.330 others(56): Show c.330+907_330+947dupATCATGAAAAGTATTAGTTTTTTATTATTA CTACATTTAAA	SSX4B	ENSG00000269791.6	transcript	ENST00000595235.6	protein_coding	5/7			chrX	TogoVar
ST7_chr7_116948501_117235176	117027463	A A	AAAAATTA others(34): Show AAAAATTAAAGTAAAGTAAAGTAAAGTAAAGTAAAGTAAAGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02486.hp2 others(6): Show HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02647.hp1 HG02965.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 others(6): Show a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057	9	22	0.4091	41	c.152 others(60): Show c.152-72296_152-72295insATTAAAGTAAAGTAAAGTAAAGTAAA GTAAAGTAAAGTAAA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA5_chr18_46662821_46762053	46719704	T T	TTCTTTCT others(34): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTCTC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0181 a0001c0001t0012g0181	1	330	0.0030	41	c.132 others(60): Show c.132-15041_132-15040insGAGAAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46719711	T T	TTTCTTTC others(34): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0164 a0001c0001t0006g0164	1	360	0.0028	41	c.132 others(60): Show c.132-15048_132-15047insGAGAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
STAC_chr3_36375504_36553007	36525571	T T	TCCCACAG others(34): Show TCCCACAGTCTGCCTCTTTCACTCTTAGGGAAAGGTACCTCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0185 a0001c0001t0019g0185	1	314	0.0032	41	c.921 others(58): Show c.921-3122_921-3121insACAGTCTGCCTCTTTCACTCTTAGGGAA AGGTACCTCCCCC	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAT2_chr12_56336597_56365107	56345522	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	248	0.0040	41	c.210 others(58): Show c.2102+623_2102+624insATATATATATATATATATATATATATAT ATATATATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	31	0.0323	41	c.210 others(58): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAATAT others(34): Show AAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA19081.hp2 HG01169.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0229 a0001c0001t0001g0152 a0001c0001t0001g0229	2	32	0.0625	41	c.210 others(58): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56357669	T T	TAAAATAA others(34): Show TAAAATAAAAAAAAAAAAAAATAAAAAAAAAAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	266	0.0038	41	c.-7- others(56): Show c.-7-1092_-7-1091insCTTTTTCTTTTTTTTTTTTTATTTTTTTTT TTTTTTATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	1/23			chr12	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp2 HG01243.hp2 HG01261.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0099 a0002c0002t0002g0274 a0001c0001t0002g0099 a0002c0002t0002g0274	2	193	0.0104	41	c.762 others(60): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02300.hp2 HG02155.hp1 HG02300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0121 a0002c0003t0001g0126 a0002c0003t0001g0121 a0002c0003t0001g0126	2	132	0.0152	41	c.483 others(58): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATATTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0146 a0002c0003t0001g0146	1	131	0.0076	41	c.483 others(58): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0139 a0002c0003t0001g0139	1	131	0.0076	41	c.483 others(58): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18952.hp1 HG00544.hp2 NA18952.hp1	a0002 a0009 a0002 a0009	a0002c0003 a0009c0010 a0002c0003 a0009c0010	a0002c0003t0001 a0009c0010t0001 a0002c0003t0001 a0009c0010t0001	a0002c0003t0001g0127 a0009c0010t0001g0253 a0002c0003t0001g0127 a0009c0010t0001g0253	2	132	0.0152	41	c.483 others(58): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0084 a0002c0003t0001g0084	1	131	0.0076	41	c.483 others(58): Show c.483+1630_483+1631insATATATATATATATATATATATATTTTT TTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK33_chr11_8386870_8599228	8557286	G G	GGAGGGGA others(34): Show GGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAGAGGAGAGAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03669.hp1 HG03710.hp1 others(2): Show HG00408.hp2 HG03669.hp1 HG03710.hp1 NA19078.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0016 a0002c0003t0001 a0001c0002t0016 a0002c0003t0001	a0001c0002t0016g0332 a0002c0003t0001g0273 a0002c0003t0001g0298 others(2): Show a0001c0002t0016g0332 a0002c0003t0001g0273 a0002c0003t0001g0298 a0002c0003t0001g0327 a0002c0003t0001g0329	5	128	0.0391	41	c.-46 others(62): Show c.-466+36796_-466+36797insTTCTCTCCTCTCCCTTCCCTTCCC TCCCCTCCCCTCCCCTC	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK38L_chr12_27239286_27330959	27240235	G G	GTGGCCAC others(34): Show GTGGCCACAGTGTATGTTTATTACCTGAACTTTGATTCTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0124 a0001c0003t0002g0124	1	372	0.0027	41	c.-41 others(52): Show c.-4109_-4108insTGGCCACAGTGTATGTTTATTACCTGAACTTTGA TTCTGTA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		4050		chr12	TogoVar
STK40_chr1_36334628_36390924	36345991	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0014 a0001c0005t0005g0014	1	110	0.0091	41	c.740 others(58): Show c.740-1728_740-1727insAAAAAAATATATATATATATATATATAT ATATATATATATA	STK40	ENSG00000196182.11	transcript	ENST00000373132.4	protein_coding	7/10			chr1	TogoVar

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