Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0118 a0001c0001t0093g0118	1	55	0.0182	32	c.305 others(51): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGTGTGTGTGTGTG TGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35750985	A A	ATATATAT others(25): Show ATATATATATATATATGTATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG02723.hp1 others(1): Show HG02615.hp2 HG02717.hp1 HG02723.hp1 NA20300.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0025 a0006c0008t0001g0039 a0006c0008t0001g0040 others(1): Show a0006c0008t0001g0025 a0006c0008t0001g0039 a0006c0008t0001g0040 a0006c0008t0001g0072	4	265	0.0151	32	c.333 others(51): Show c.3331-2628_3331-2627insATATGTATATATATATATACGTATAT ATATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPHKAP_chr2_227974955_228186687	228119456	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19081.hp1 HG02071.hp1 NA19081.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0009 a0001c0001 a0010c0009	a0001c0001t0002 a0010c0009t0003 a0001c0001t0002 a0010c0009t0003	a0001c0001t0002g0224 a0010c0009t0003g0154 a0001c0001t0002g0224 a0010c0009t0003g0154	2	161	0.0124	32	c.139 others(51): Show c.139-10518_139-10517insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228139910	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp2 HG01884.hp1 others(13): Show HG01192.hp1 HG01257.hp2 HG01884.hp1 HG02080.hp1 HG02080.hp2 HG02145.hp1 HG02630.hp1 HG06807.hp2 NA18939.hp2 NA18981.hp1 NA18982.hp1 NA19006.hp2 NA19064.hp2 NA19084.hp1 NA19091.hp1 NA20805.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0015	a0001c0001 a0002c0002 a0003c0005 others(4): Show a0001c0001 a0002c0002 a0003c0005 a0004c0003 a0005c0004 a0006c0007 a0015c0017	a0001c0001t0002 a0002c0002t0001 a0003c0005t0001 others(6): Show a0001c0001t0002 a0002c0002t0001 a0003c0005t0001 a0004c0003t0001 a0004c0003t0002 a0004c0003t0004 a0005c0004t0003 a0006c0007t0001 a0015c0017t0012	a0001c0001t0002g0155 a0001c0001t0002g0161 a0002c0002t0001g0197 others(13): Show a0001c0001t0002g0155 a0001c0001t0002g0161 a0002c0002t0001g0197 a0002c0002t0001g0316 a0002c0002t0001g0317 a0003c0005t0001g0127 a0004c0003t0001g0073 a0004c0003t0001g0305 a0004c0003t0002g0272 a0004c0003t0004g0311 a0005c0004t0003g0068 a0005c0004t0003g0151 a0005c0004t0003g0240 a0005c0004t0003g0253 a0006c0007t0001g0189 a0015c0017t0012g0292	16	198	0.0808	32	c.33- others(47): Show c.33-7826_33-7825insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPI1_chr11_47349860_47383547	47381487	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG02976.hp2 others(5): Show HG01243.hp1 HG02622.hp1 HG02976.hp2 HG03209.hp2 HG03834.hp1 HG04115.hp2 NA18960.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0027 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0087 a0001c0001t0001g0105 a0001c0001t0001g0144 a0001c0001t0001g0145	8	27	0.2963	32	c.-31 others(43): Show c.-3135_-3134insTATATATATATATATATATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2941		chr11	TogoVar
SPICE1_chr3_113437718_113520156	113480912	T T	TAAAGAAA others(25): Show TAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG01069.hp1 others(40): Show HG00323.hp1 HG00621.hp2 HG01069.hp1 HG01071.hp2 HG01175.hp1 HG01257.hp1 HG01358.hp2 HG01496.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02615.hp1 HG02970.hp2 HG03704.hp2 NA18747.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp2 NA18953.hp2 NA18967.hp1 NA18970.hp2 NA18973.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18991.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19012.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0010	a0001c0001 a0001c0004 a0002c0003 others(4): Show a0001c0001 a0001c0004 a0002c0003 a0003c0005 a0004c0006 a0007c0011 a0010c0021	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0023 a0001c0004t0004 a0002c0003t0005 a0002c0003t0009 a0003c0005t0004 a0004c0006t0002 a0007c0011t0004 a0010c0021t0004	a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 others(40): Show a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0028 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0004g0035 a0001c0001t0016g0052 a0001c0001t0023g0079 a0001c0004t0004g0111 a0001c0004t0004g0112 a0002c0003t0005g0335 a0002c0003t0005g0344 a0002c0003t0005g0354 a0002c0003t0009g0343 a0002c0003t0009g0351 a0002c0003t0009g0355 a0003c0005t0004g0169 a0003c0005t0004g0176 a0004c0006t0002g0015 a0007c0011t0004g0116 a0007c0011t0004g0117 a0010c0021t0004g0081	43	132	0.3258	32	c.611 others(49): Show c.611+8032_611+8033insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	74	0.0135	32	c.109 others(53): Show c.1098-29818_1098-29817insATATATATATATATATATATATAT TTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIN1_chr9_88383444_88483694	88441398	C C	CGCGTGTG others(25): Show CGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG03516.hp1 HG02280.hp2 HG02622.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0086 a0001c0002t0001g0136 a0001c0002t0005g0144 a0001c0002t0001g0086 a0001c0002t0001g0136 a0001c0002t0005g0144	3	125	0.0240	32	c.53- others(47): Show c.53-7542_53-7541insCGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441398	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	123	0.0081	32	c.53- others(47): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	107	0.0093	32	c.53- others(47): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGCGCGCGCGCG CG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0002 a0001c0001t0012g0002	1	107	0.0093	32	c.53- others(47): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGCGCG CG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02559.hp1 HG03209.hp1 others(4): Show HG01496.hp2 HG02559.hp1 HG03209.hp1 HG03209.hp2 HG03540.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 others(4): Show a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0003g0029	7	113	0.0619	32	c.53- others(47): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG CG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88473281	T T	TACTCGGG others(25): Show TACTCGGGAGGCTGAAGCAGAAGAATCACTTGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01884.hp2 HG01891.hp2 others(12): Show HG01070.hp2 HG01884.hp2 HG01891.hp2 HG02280.hp1 HG02717.hp2 HG02818.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 others(12): Show a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0015g0058	15	174	0.0862	32	c.590 others(49): Show c.590-1794_590-1763dupTCGGGAGGCTGAAGCAGAAGAATCACTT GAAC	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPINK6_chr5_148198042_148220137	148212540	G G	GTATATAT others(25): Show GTATATATTTATATATTTATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02155.hp2 HG02257.hp1 others(29): Show HG02015.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG03453.hp1 HG03579.hp2 HG03688.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 NA20129.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0059 others(11): Show a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0059 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0186	32	436	0.0734	32	c.82- others(47): Show c.82-1364_82-1333dupATTTATATATTTATATAATATATATTATAT AT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPIRE1_chr18_12441512_12663107	12461587	A A	ATACATAC others(25): Show ATACATACATGTGTGTATATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00544.hp2 others(95): Show HG00140.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00673.hp2 HG01071.hp1 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02647.hp1 HG02896.hp1 HG03017.hp2 HG03041.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18968.hp1 NA18969.hp2 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18984.hp2 NA18988.hp2 NA18991.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19056.hp1 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0005 a0002c0009 others(2): Show a0001c0001 a0001c0005 a0002c0009 a0003c0006 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0026 a0001c0001t0027 a0001c0001t0032 a0001c0005t0001 a0002c0009t0003 a0003c0006t0029 a0005c0008t0003	a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0064 others(95): Show a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0085 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0234 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0008g0163 a0001c0001t0008g0164 a0001c0001t0008g0165 a0001c0001t0008g0166 a0001c0001t0008g0263 a0001c0001t0011g0324 a0001c0001t0011g0325 a0001c0001t0011g0326 a0001c0001t0011g0328 a0001c0001t0013g0009 a0001c0001t0013g0011 a0001c0001t0015g0253 a0001c0001t0015g0254 a0001c0001t0026g0097 a0001c0001t0027g0128 a0001c0001t0032g0316 a0001c0005t0001g0110 a0002c0009t0003g0323 a0003c0006t0029g0135 a0005c0008t0003g0319	98	308	0.3182	32	c.163 others(51): Show c.1638+1763_1638+1764insCATACATACATACATATACACACATG TATGTA	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	12/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12461596	T T	TGTGTGTA others(25): Show TGTGTGTATATGTATGTATGTATGTACATACAC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0288 a0001c0001t0003g0288	1	325	0.0031	32	c.163 others(51): Show c.1638+1754_1638+1755insGTGTATGTACATACATACATACATAT ACACAC	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	12/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0022 a0001c0001t0006g0022	1	138	0.0072	32	c.372 others(51): Show c.372+19716_372+19717insATATATATATATATTTTTTTTTTTTT TTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869047	A A	AACATATA others(25): Show AACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0326 a0001c0001t0003g0326	1	321	0.0031	32	c.180 others(49): Show c.1807-519_1807-518insCATATATATATATATATATATATATATA TATA	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(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	30	0.0333	32	c.180 others(49): Show c.1807-513_1807-512insAAAAAAAAAATATATATATATATATATA TATA	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(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18982.hp2 NA18995.hp1 others(1): Show NA18979.hp2 NA18982.hp2 NA18995.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0127 others(1): Show a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0127 a0001c0001t0004g0083	4	33	0.1212	32	c.180 others(49): Show c.1807-513_1807-512insAAAAAAAATATATATATATATATATATA TATA	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(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA18994.hp2 HG01256.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0194 a0001c0001t0001g0133 a0001c0001t0001g0194	2	31	0.0645	32	c.180 others(49): Show c.1807-513_1807-512insAAAAAATATATATATATATATATATATA TATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAACA others(25): Show AAAAAACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0322 a0001c0001t0003g0322	1	30	0.0333	32	c.180 others(49): Show c.1807-513_1807-512insAAAACATATATATATATATATATATATA TATA	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(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03927.hp1 NA18977.hp2 HG02071.hp2 HG03927.hp1 NA18977.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0024 a0001c0001 a0006c0024	a0001c0001t0001 a0006c0024t0001 a0001c0001t0001 a0006c0024t0001	a0001c0001t0001g0066 a0001c0001t0001g0078 a0006c0024t0001g0153 a0001c0001t0001g0066 a0001c0001t0001g0078 a0006c0024t0001g0153	3	32	0.0938	32	c.180 others(49): Show c.1807-513_1807-512insAAAATATATATATATATATATATATATA TATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02040.hp1 HG02165.hp1 others(9): Show HG00597.hp1 HG02040.hp1 HG02165.hp1 HG02559.hp2 HG02683.hp2 HG03831.hp2 NA18964.hp2 NA18980.hp1 NA18983.hp2 NA18990.hp1 NA19057.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015	a0001c0001t0001g0022 a0001c0001t0001g0122 a0001c0001t0001g0135 others(9): Show a0001c0001t0001g0022 a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0001g0245 a0001c0001t0001g0270 a0001c0001t0001g0286 a0001c0001t0001g0325 a0001c0001t0001g0342 a0001c0001t0002g0246 a0001c0001t0003g0237 a0001c0001t0008g0182 a0001c0001t0015g0188	12	53	0.2264	32	c.-40 others(43): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458588	C C	CCTTCCTT others(25): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0336 a0001c0001t0002g0336	1	179	0.0056	32	c.111 others(51): Show c.1113+5386_1113+5387insCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4468721	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01255.hp1 HG01257.hp2 others(1): Show HG00621.hp1 HG01255.hp1 HG01257.hp2 NA19066.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0001 a0002c0002t0001 a0003c0008t0003 a0001c0001t0001 a0002c0002t0001 a0003c0008t0003	a0001c0001t0001g0229 a0002c0002t0001g0274 a0002c0002t0001g0303 others(1): Show a0001c0001t0001g0229 a0002c0002t0001g0274 a0002c0002t0001g0303 a0003c0008t0003g0099	4	49	0.0816	32	c.111 others(51): Show c.1114-9841_1114-9810dupTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	35	0.0286	32	c.-12 others(43): Show c.-1200_-1199insAAAAAAAATATATATATATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	35	0.0286	32	c.-12 others(43): Show c.-1200_-1199insAAAAAAAAAATATATATATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(25): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0094 a0001c0003t0002g0094	1	19	0.0526	32	c.187 others(51): Show c.187-89784_187-89783insCTCTCTCTCTCTCTCTCTCTCTATAT ATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(25): Show TATATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0104 a0002c0005t0002g0104	1	19	0.0526	32	c.187 others(51): Show c.187-89784_187-89783insCTCTCTCTCTCTCTCTCTCTATATAT ATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(25): Show TATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0038 a0001c0001t0010g0038	1	19	0.0526	32	c.187 others(51): Show c.187-89784_187-89783insCTCTCTCTCTCTATATATATATATAT ATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137358390	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	48	0.0208	32	c.187 others(51): Show c.187-91367_187-91336dupCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137384576	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	142	0.0070	32	c.186 others(53): Show c.186+113796_186+113797insCATATATATATATATATATATATA TATATATA	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166800183	G G	GAAAAAAA others(25): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	62	0.0161	32	c.590 others(49): Show c.590-7895_590-7894insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(25): Show CATATATATACATATATATATATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0041 a0001c0007t0002g0041	1	46	0.0217	32	c.589 others(51): Show c.589+28327_589+28328insATACACATATATATATATATATGTAT ATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	46	0.0217	32	c.589 others(51): Show c.589+28327_589+28328insACATATATATATATATATATATATAT ATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	46	0.0217	32	c.589 others(51): Show c.589+28327_589+28328insATACATATATATATATATATATATAT ATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167205489	A A	AATATATA others(25): Show AATATATATTATATAATATATATTATATATATT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03041.hp2 NA18906.hp2 HG02257.hp2 HG03041.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002	a0001c0001t0003g0076 a0001c0001t0005g0037 a0001c0002t0002g0075 a0001c0001t0003g0076 a0001c0001t0005g0037 a0001c0002t0002g0075	3	141	0.0213	32	c.189 others(51): Show c.189+28495_189+28496insAATATATATAATATATATTATATAAT ATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14160441	A A	ATATTTAT others(25): Show ATATTTATATATATATATTTATATATATATATT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0113 a0001c0004t0001g0113	1	201	0.0050	32	c.825 others(51): Show c.825+24874_825+24875insATTTATATATATATATTTATATATAT ATATTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14272671	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	67	0.0149	32	c.69 others(43): Show c.6984_*6985insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4539		chr11	TogoVar
SPPL2B_chr19_2323684_2360095	2335215	T T	TCCCACTG others(25): Show TCCCACTGCATCCTTCAGGCCCCGCCTCCTTTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02486.hp2 others(1): Show HG02257.hp1 HG02257.hp2 HG02486.hp2 HG02723.hp2	a0001 a0002 a0001 a0002	a0001c0018 a0002c0005 a0001c0018 a0002c0005	a0001c0018t0002 a0002c0005t0003 a0001c0018t0002 a0002c0005t0003	a0001c0018t0002g0156 a0002c0005t0003g0055 a0002c0005t0003g0157 others(1): Show a0001c0018t0002g0156 a0002c0005t0003g0055 a0002c0005t0003g0157 a0002c0005t0003g0158	4	348	0.0115	32	c.186 others(47): Show c.186+496_186+497insCACTGCATCCTTCAGGCCCCGCCTCCTTTC CC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL3_chr12_120757510_120909358	120830365	T T	TGAGGGGG others(25): Show TGAGGGGGGAAGGGGAGGGGGGGAAGAAGGGGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0211 a0001c0001t0009g0211	1	64	0.0156	32	c.24- others(49): Show c.24-19480_24-19479insCCCCCTTCTTCCCCCCCTCCCCTTCCCC CCTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830408	A A	AGGGGGGG others(25): Show AGGGGGGGAAGAAGGGGGGAGGGGGAAGGGGAG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	34	0.0294	32	c.24- others(49): Show c.24-19523_24-19522insCTCCCCTTCCCCCTCCCCCCTTCTTCCC CCCC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRED3_chr19_38383697_38404587	38397903	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0074 a0001c0001t0028g0074	1	251	0.0040	32	c.17 others(43): Show c.1773_*1774insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding	6/6	1774	INFO_REALIGN_3_PRIME	chr19	TogoVar
SPRR2A_chr1_153051120_153062512	153055051	T T	TAAGCTAA others(25): Show TAAGCTAAGTGTCCATTAATGAATGAATGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	32	c.14 others(43): Show c.1465_*1466insTATTCATTCATTCATTAATGGACACTTAGCTT	SPRR2A	ENSG00000241794.2	transcript	ENST00000392653.3	protein_coding		1068		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19067.hp1 NA19090.hp2 NA19067.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0106 a0001c0001t0018g0140 a0001c0001t0018g0106 a0001c0001t0018g0140	2	3	0.6667	32	c.29 others(43): Show c.2906_*2907insATATATATATATATATATATGTAAATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2907	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18949.hp2 NA18940.hp1 NA18949.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0009 a0002c0006t0008 a0001c0004t0009 a0002c0006t0008	a0001c0004t0009g0005 a0002c0006t0008g0069 a0001c0004t0009g0005 a0002c0006t0008g0069	2	164	0.0122	32	c.258 others(51): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTBN1_chr2_54451327_54676446	54522642	A A	AAGAGAGA others(25): Show AAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18989.hp1 NA19090.hp2 NA18974.hp1 NA18989.hp1 NA19090.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0153 a0002c0006t0003g0179 a0002c0006t0003g0186 a0002c0006t0003g0153 a0002c0006t0003g0179 a0002c0006t0003g0186	3	363	0.0083	32	c.-47 others(49): Show c.-47-3727_-47-3726insGAGAGAGAGGAGAGAGAGAGAGAGAGGA GAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522647	A A	AGAAAGAG others(25): Show AGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18906.hp2 NA20300.hp2 HG01168.hp2 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0003 a0001c0003t0027 a0001c0011t0023 a0001c0003t0003 a0001c0003t0027 a0001c0011t0023	a0001c0003t0003g0139 a0001c0003t0027g0053 a0001c0011t0023g0229 a0001c0003t0003g0139 a0001c0003t0027g0053 a0001c0011t0023g0229	3	367	0.0082	32	c.-47 others(49): Show c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG AGGA	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(25): Show GAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG01433.hp2 others(2): Show HG00735.hp1 HG01167.hp1 HG01433.hp2 HG01978.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0018 a0001c0002 a0001c0009 a0001c0018	a0001c0002t0001 a0001c0009t0007 a0001c0009t0045 others(1): Show a0001c0002t0001 a0001c0009t0007 a0001c0009t0045 a0001c0018t0007	a0001c0002t0001g0275 a0001c0009t0007g0270 a0001c0009t0007g0286 others(2): Show a0001c0002t0001g0275 a0001c0009t0007g0270 a0001c0009t0007g0286 a0001c0009t0045g0298 a0001c0018t0007g0112	5	140	0.0357	32	c.-47 others(49): Show c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAAAGAGAAAGA AAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar

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