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
RYR3_chr15_33305967_33871102	33725154	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02896.hp1 NA18959.hp1 others(1): Show HG01109.hp1 HG02896.hp1 NA18959.hp1 NA19062.hp2	a0001 a0004 a0011 others(1): Show a0001 a0004 a0011 a0039	a0001c0001 a0004c0006 a0011c0112 others(1): Show a0001c0001 a0004c0006 a0011c0112 a0039c0064	a0001c0001t0001 a0004c0006t0001 a0011c0112t0003 others(1): Show a0001c0001t0001 a0004c0006t0001 a0011c0112t0003 a0039c0064t0003	a0001c0001t0001g0096 a0004c0006t0001g0149 a0011c0112t0003g0020 others(1): Show a0001c0001t0001g0096 a0004c0006t0001g0149 a0011c0112t0003g0020 a0039c0064t0003g0052	4	154	0.0260	-12	c.691 others(31): Show c.6912+1016_6912+1027delCACACACACACA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	45/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789624	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0099 a0001c0099	a0001c0099t0002 a0001c0099t0002	a0001c0099t0002g0139 a0001c0099t0002g0139	1	154	0.0065	-12	c.983 others(31): Show c.9830+1190_9830+1201delATATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18522.hp2 HG02622.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0083 a0002c0093 a0001c0083 a0002c0093	a0001c0083t0001 a0002c0093t0004 a0001c0083t0001 a0002c0093t0004	a0001c0083t0001g0143 a0002c0093t0004g0050 a0001c0083t0001g0143 a0002c0093t0004g0050	2	154	0.0130	-12	c.983 others(31): Show c.9830+1223_9830+1234delTTTTTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33796124	GTTTTGTT others(5): Show GTTTTGTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00558.hp2 others(65): Show HG00408.hp2 HG00558.hp1 HG00558.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01884.hp1 HG01891.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18747.hp1 NA18946.hp2 NA18950.hp1 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA19005.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0017 a0019 a0020 a0022 a0032 a0036 a0037 a0038 a0040 a0043 a0044 a0046 a0051 a0052 a0053	a0001c0001 a0001c0002 a0001c0003 others(54): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0013 a0001c0014 a0001c0046 a0001c0079 a0001c0084 a0001c0101 a0001c0120 a0002c0044 a0002c0049 a0002c0051 a0002c0090 a0002c0119 a0003c0035 a0003c0065 a0003c0078 a0003c0085 a0003c0106 a0004c0006 a0004c0016 a0004c0070 a0004c0113 a0005c0022 a0005c0028 a0005c0029 a0005c0032 a0005c0040 a0007c0026 a0007c0073 a0008c0018 a0008c0019 a0009c0063 a0010c0054 a0011c0112 a0012c0025 a0013c0057 a0013c0123 a0015c0011 a0017c0041 a0019c0033 a0020c0039 a0022c0117 a0032c0036 a0036c0060 a0037c0094 a0038c0056 a0040c0107 a0043c0052 a0044c0111 a0046c0114 a0051c0067 a0052c0071 a0053c0124	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0013t0001 a0001c0013t0005 a0001c0014t0002 a0001c0046t0011 a0001c0079t0006 a0001c0084t0003 a0001c0101t0001 a0001c0120t0002 a0002c0044t0003 a0002c0049t0003 a0002c0051t0007 a0002c0090t0001 a0002c0119t0001 a0003c0035t0004 a0003c0065t0002 a0003c0078t0003 a0003c0085t0002 a0003c0106t0002 a0004c0006t0001 a0004c0016t0002 a0004c0070t0001 a0004c0113t0001 a0005c0022t0002 a0005c0028t0003 a0005c0029t0001 a0005c0032t0003 a0005c0040t0013 a0007c0026t0002 a0007c0073t0001 a0008c0018t0003 a0008c0019t0001 a0009c0063t0001 a0010c0054t0001 a0011c0112t0003 a0012c0025t0001 a0013c0057t0003 a0013c0123t0003 a0015c0011t0009 a0017c0041t0002 a0019c0033t0003 a0020c0039t0001 a0022c0117t0002 a0032c0036t0010 a0036c0060t0001 a0037c0094t0003 a0038c0056t0001 a0040c0107t0003 a0043c0052t0001 a0044c0111t0001 a0046c0114t0003 a0051c0067t0004 a0052c0071t0003 a0053c0124t0001	a0001c0001t0001g0096 a0001c0001t0001g0140 a0001c0001t0002g0030 others(65): Show a0001c0001t0001g0096 a0001c0001t0001g0140 a0001c0001t0002g0030 a0001c0001t0005g0008 a0001c0001t0010g0094 a0001c0002t0001g0043 a0001c0003t0001g0032 a0001c0003t0002g0036 a0001c0004t0001g0037 a0001c0004t0001g0127 a0001c0004t0003g0104 a0001c0005t0001g0117 a0001c0013t0001g0026 a0001c0013t0005g0084 a0001c0014t0002g0015 a0001c0014t0002g0049 a0001c0046t0011g0065 a0001c0079t0006g0038 a0001c0084t0003g0054 a0001c0101t0001g0128 a0001c0120t0002g0121 a0002c0044t0003g0105 a0002c0049t0003g0013 a0002c0051t0007g0136 a0002c0090t0001g0076 a0002c0119t0001g0090 a0003c0035t0004g0111 a0003c0065t0002g0150 a0003c0078t0003g0024 a0003c0085t0002g0057 a0003c0106t0002g0080 a0004c0006t0001g0119 a0004c0006t0001g0149 a0004c0016t0002g0103 a0004c0070t0001g0010 a0004c0113t0001g0095 a0005c0022t0002g0147 a0005c0028t0003g0086 a0005c0029t0001g0075 a0005c0032t0003g0071 a0005c0040t0013g0145 a0007c0026t0002g0108 a0007c0073t0001g0138 a0008c0018t0003g0034 a0008c0019t0001g0001 a0009c0063t0001g0126 a0010c0054t0001g0112 a0011c0112t0003g0020 a0012c0025t0001g0058 a0013c0057t0003g0082 a0013c0123t0003g0047 a0015c0011t0009g0066 a0015c0011t0009g0067 a0017c0041t0002g0114 a0019c0033t0003g0152 a0020c0039t0001g0053 a0022c0117t0002g0123 a0032c0036t0010g0088 a0036c0060t0001g0125 a0037c0094t0003g0070 a0038c0056t0001g0093 a0040c0107t0003g0003 a0043c0052t0001g0137 a0044c0111t0001g0028 a0046c0114t0003g0011 a0051c0067t0004g0069 a0052c0071t0003g0115 a0053c0124t0001g0059	68	154	0.4416	-12	c.983 others(31): Show c.9831-4629_9831-4618delGTTTTTGTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33819675	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0007 a0007	a0007c0072 a0007c0072	a0007c0072t0004 a0007c0072t0004	a0007c0072t0004g0045 a0007c0072t0004g0045	1	154	0.0065	-12	c.107 others(29): Show c.10707-45_10707-34delTAAATAAATAAA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	76/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33863053	TAGACCAG others(5): Show TAGACCAGTGGAA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA21309.hp1 NA19030.hp1 NA21309.hp1	a0005 a0007 a0005 a0007	a0005c0040 a0007c0072 a0005c0040 a0007c0072	a0005c0040t0013 a0007c0072t0004 a0005c0040t0013 a0007c0072t0004	a0005c0040t0013g0145 a0007c0072t0004g0045 a0005c0040t0013g0145 a0007c0072t0004g0045	2	154	0.0130	-12	c.144 others(33): Show c.14466-1084_14466-1073delAGACCAGTGGAA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	102/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33868544	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02486.hp1 others(8): Show HG01884.hp1 HG02145.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02738.hp1 HG03098.hp1 HG03453.hp1 NA18522.hp1 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0037 a0042 a0052	a0001c0037 a0002c0049 a0002c0091 others(7): Show a0001c0037 a0002c0049 a0002c0091 a0003c0012 a0003c0077 a0003c0078 a0005c0028 a0037c0094 a0042c0050 a0052c0071	a0001c0037t0003 a0002c0049t0003 a0002c0091t0003 others(7): Show a0001c0037t0003 a0002c0049t0003 a0002c0091t0003 a0003c0012t0003 a0003c0077t0003 a0003c0078t0003 a0005c0028t0003 a0037c0094t0003 a0042c0050t0003 a0052c0071t0003	a0001c0037t0003g0089 a0002c0049t0003g0013 a0002c0091t0003g0154 others(8): Show a0001c0037t0003g0089 a0002c0049t0003g0013 a0002c0091t0003g0154 a0003c0012t0003g0064 a0003c0012t0003g0113 a0003c0077t0003g0012 a0003c0078t0003g0024 a0005c0028t0003g0086 a0037c0094t0003g0070 a0042c0050t0003g0131 a0052c0071t0003g0115	11	154	0.0714	-12	c.33 others(23): Show c.3319_*3330delAAAAAAAAAAAA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding		2443		chr15	TogoVar
S100A16_chr1_153601886_153618137	153602921	CGATAGAT others(5): Show CGATAGATAGATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01123.hp2 HG02615.hp2 others(6): Show HG01109.hp1 HG01123.hp2 HG02615.hp2 HG02683.hp2 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG03041.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0004g0026	9	400	0.0225	-12	c.46 others(23): Show c.4601_*4612delTATCTATCTATC	S100A16	ENSG00000188643.11	transcript	ENST00000368706.9	protein_coding		3964		chr1	TogoVar
S100A16_chr1_153601886_153618137	153602956	TAGATAGA others(5): Show TAGATAGATGATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02723.hp1 HG02109.hp2 HG02559.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0003 a0001c0001t0001g0011	3	400	0.0075	-12	c.45 others(23): Show c.4566_*4577delTATCATCTATCT	S100A16	ENSG00000188643.11	transcript	ENST00000368706.9	protein_coding		3929		chr1	TogoVar
S100A4_chr1_153538621_153550806	153539469	ATATATAT others(5): Show ATATATATTTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG03139.hp1 HG02486.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	350	0.0057	-12	c.42 others(23): Show c.4278_*4289delAATAAATATATA	S100A4	ENSG00000196154.12	transcript	ENST00000368716.9	protein_coding		4151		chr1	TogoVar
S100A5_chr1_153532147_153545934	153539469	ATATATAT others(5): Show ATATATATTTATT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03139.hp2 HG02486.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	2	378	0.0053	-12	c.138 others(27): Show c.138+573_138+584delAATAAATATATA	S100A5	ENSG00000196420.8	transcript	ENST00000368717.3	protein_coding	2/2			chr1	TogoVar
S100A6_chr1_153529599_153540991	153539469	ATATATAT others(5): Show ATATATATTTATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG03139.hp2 HG02486.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	380	0.0053	-12	c.-35 others(23): Show c.-3554_-3543delAATAAATATATA	S100A6	ENSG00000197956.10	transcript	ENST00000368719.9	protein_coding		3479		chr1	TogoVar
S100A7_chr1_153452744_153465651	153463871	ATTTCAAA others(5): Show ATTTCAAACATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	420	0.0024	-12	c.-32 others(23): Show c.-3293_-3282delATATGTTTGAAA	S100A7	ENSG00000143556.9	transcript	ENST00000368723.4	protein_coding		3221		chr1	TogoVar
S100PBP_chr1_32812653_32863875	32842232	TATATACA others(5): Show TATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	340	0.0029	-12	c.102 others(33): Show c.1025-10845_1025-10834delTATACACACACA	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100PBP_chr1_32812653_32863875	32842234	TATACACA others(5): Show TATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00621.hp1 others(54): Show HG00140.hp2 HG00423.hp2 HG00621.hp1 HG00735.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02155.hp2 HG02602.hp2 HG03490.hp2 HG03491.hp2 HG03688.hp1 HG03704.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18961.hp2 NA18963.hp2 NA18967.hp2 NA18970.hp2 NA18977.hp1 NA18982.hp2 NA18987.hp1 NA18989.hp1 NA18994.hp2 NA19010.hp2 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19067.hp2 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0018	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(42): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0006g0001 a0001c0001t0006g0004 a0001c0001t0006g0052 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0015g0063 a0001c0001t0018g0001	57	340	0.1677	-12	c.102 others(33): Show c.1025-10843_1025-10832delTACACACACACA	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100PBP_chr1_32812653_32863875	32845837	CTGGCTAA others(5): Show CTGGCTAATTTTT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	340	0.0029	-12	c.102 others(31): Show c.1025-7239_1025-7228delGCTAATTTTTTG	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100P_chr4_6688878_6702170	6692010	GCAAACAA others(5): Show GCAAACAAACAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	482	0.0021	-12	c.-19 others(23): Show c.-1922_-1911delCAAACAAACAAA	S100P	ENSG00000163993.7	transcript	ENST00000296370.4	protein_coding		1867		chr4	TogoVar
S100P_chr4_6688878_6702170	6701096	TTTATTAT others(5): Show TTTATTATTATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01243.hp1 HG02258.hp1 others(4): Show HG00280.hp2 HG01243.hp1 HG02258.hp1 HG03139.hp1 HG03486.hp2 NA18983.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0022	7	482	0.0145	-12	c.40 others(23): Show c.4055_*4066delTTATTATTATTA	S100P	ENSG00000163993.7	transcript	ENST00000296370.4	protein_coding		3927		chr4	TogoVar
S100Z_chr5_76845014_76926650	76864386	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0047 a0002c0002t0003g0047	1	348	0.0029	-12	c.-17 others(31): Show c.-175-5758_-175-5747delTTTTTTTTTTTT	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
S100Z_chr5_76845014_76926650	76898928	CTTTTCTT others(5): Show CTTTTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02258.hp2 HG02818.hp2 others(23): Show HG00558.hp1 HG02258.hp2 HG02818.hp2 HG03041.hp2 HG03453.hp2 HG03491.hp1 HG03669.hp2 HG03834.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18957.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18977.hp2 NA18992.hp1 NA18998.hp1 NA19005.hp2 NA19054.hp1 NA19062.hp2 NA19063.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0020 a0002c0003t0003	a0001c0001t0001g0086 a0002c0002t0001g0016 a0002c0002t0001g0102 others(23): Show a0001c0001t0001g0086 a0002c0002t0001g0016 a0002c0002t0001g0102 a0002c0002t0001g0112 a0002c0002t0001g0154 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0166 a0002c0002t0001g0183 a0002c0002t0001g0192 a0002c0002t0001g0234 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0286 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0304 a0002c0002t0001g0330 a0002c0002t0002g0305 a0002c0002t0003g0213 a0002c0002t0003g0267 a0002c0002t0003g0298 a0002c0002t0003g0300 a0002c0002t0004g0239 a0002c0002t0020g0339 a0002c0003t0003g0299	26	348	0.0747	-12	c.2+ others(29): Show c.2+21099_*2+21110delCTTTTTTTTTTT	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
S100Z_chr5_76845014_76926650	76906970	GTGTGTGT others(5): Show GTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02258.hp1 HG02647.hp1 HG01081.hp2 HG02258.hp1 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0006 a0002c0002t0001 a0001c0001t0003 a0001c0001t0006 a0002c0002t0001	a0001c0001t0003g0114 a0001c0001t0006g0113 a0002c0002t0001g0080 a0001c0001t0003g0114 a0001c0001t0006g0113 a0002c0002t0001g0080	3	348	0.0086	-12	c.3- others(29): Show c.3-13745_*3-13734delGTGTGTATATAT	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
S100Z_chr5_76845014_76926650	76906972	GTGTGTAT others(5): Show GTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0226 a0001c0001t0003g0226	1	348	0.0029	-12	c.3- others(29): Show c.3-13743_*3-13732delGTGTATATATAT	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
S100Z_chr5_76845014_76926650	76906976	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02523.hp1 NA18941.hp2 others(2): Show HG02148.hp1 HG02523.hp1 NA18941.hp2 NA19002.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0273 a0002c0002t0002g0287 a0002c0002t0002g0342 others(2): Show a0002c0002t0002g0273 a0002c0002t0002g0287 a0002c0002t0002g0342 a0002c0002t0004g0185 a0002c0002t0004g0227	5	348	0.0144	-12	c.3- others(29): Show c.3-13704_*3-13693delTATATATATATA	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
S1PR2_chr19_10216433_10236331	10223168	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02451.hp2 others(8): Show HG02109.hp2 HG02257.hp1 HG02451.hp2 HG02572.hp1 HG02683.hp1 HG02922.hp2 HG03209.hp2 HG03669.hp2 HG03704.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0016 a0001c0002t0024 others(1): Show a0001c0002t0015 a0001c0002t0016 a0001c0002t0024 a0001c0002t0050	a0001c0002t0015g0037 a0001c0002t0015g0093 a0001c0002t0015g0156 others(5): Show a0001c0002t0015g0037 a0001c0002t0015g0093 a0001c0002t0015g0156 a0001c0002t0016g0024 a0001c0002t0016g0067 a0001c0002t0024g0063 a0001c0002t0024g0092 a0001c0002t0050g0098	11	400	0.0275	-12	c.66 others(21): Show c.664_*675delTTTTTTTTTTTT	S1PR2	ENSG00000267534.4	transcript	ENST00000646641.1	protein_coding	2/2	664		chr19	TogoVar
S1PR2_chr19_10216433_10236331	10232354	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03209.hp1 HG02559.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0094 a0001c0001t0008g0095 a0001c0001t0002g0094 a0001c0001t0008g0095	2	400	0.0050	-12	c.-12 others(23): Show c.-1205_-1194delCACACACACACA	S1PR2	ENSG00000267534.4	transcript	ENST00000646641.1	protein_coding		1024		chr19	TogoVar
S1PR2_chr19_10216433_10236331	10235587	TTTTATTT others(5): Show TTTTATTTATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00438.hp2 others(44): Show HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01192.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02129.hp1 HG02148.hp1 HG02293.hp2 HG02622.hp2 HG02717.hp1 HG02976.hp1 HG03195.hp2 HG03688.hp1 HG03704.hp1 HG04115.hp2 NA18612.hp2 NA18939.hp2 NA18944.hp1 NA18954.hp2 NA18969.hp2 NA18986.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA19002.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp1 NA19067.hp2 NA19070.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0009 a0001c0002t0022 others(4): Show a0001c0002t0005 a0001c0002t0009 a0001c0002t0022 a0001c0002t0034 a0001c0002t0038 a0001c0002t0053 a0001c0002t0055	a0001c0002t0005g0004 a0001c0002t0005g0007 a0001c0002t0005g0022 others(17): Show a0001c0002t0005g0004 a0001c0002t0005g0007 a0001c0002t0005g0022 a0001c0002t0005g0035 a0001c0002t0005g0052 a0001c0002t0005g0080 a0001c0002t0005g0082 a0001c0002t0005g0084 a0001c0002t0005g0085 a0001c0002t0005g0142 a0001c0002t0009g0081 a0001c0002t0009g0083 a0001c0002t0009g0086 a0001c0002t0009g0087 a0001c0002t0009g0190 a0001c0002t0022g0036 a0001c0002t0034g0090 a0001c0002t0038g0088 a0001c0002t0053g0089 a0001c0002t0055g0143	47	400	0.1175	-12	c.-44 others(23): Show c.-4438_-4427delTAAATAAATAAA	S1PR2	ENSG00000267534.4	transcript	ENST00000646641.1	protein_coding		4257		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3183636	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-12	c.36 others(23): Show c.3690_*3701delAAAAAAAAAAAA	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3305		chr19	TogoVar
SAA1_chr11_18261264_18274967	18268831	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0054 a0005c0007t0001g0054	1	442	0.0023	-12	c.92- others(25): Show c.92-343_92-332delAAAAAAAAAAAA	SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
SAA2_chr11_18240240_18253668	18251906	CTTTCTTT others(5): Show CTTTCTTTATTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	474	0.0021	-12	c.-33 others(23): Show c.-3320_-3309delTAAATAAAGAAA	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3239		chr11	TogoVar
SAA2_chr11_18240240_18253668	18251910	CTTTATTT others(5): Show CTTTATTTATTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01433.hp1 HG01928.hp2 others(8): Show HG01255.hp2 HG01433.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG02647.hp1 HG02698.hp2 HG03041.hp2 HG03098.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0065 others(1): Show a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0065 a0002c0002t0001g0077	11	474	0.0232	-12	c.-33 others(23): Show c.-3324_-3313delTAAATAAATAAA	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3243		chr11	TogoVar
SAA2_chr11_18240240_18253668	18251935	TTTATTTA others(5): Show TTTATTTATTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02622.hp1 HG00639.hp2 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	2	474	0.0042	-12	c.-33 others(23): Show c.-3349_-3338delGGAAATAAATAA	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3268		chr11	TogoVar
SAA2_chr11_18240240_18253668	18252063	CTCTTTCT others(5): Show CTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02145.hp1 HG02145.hp2 others(6): Show HG01496.hp2 HG02145.hp1 HG02145.hp2 HG02559.hp2 HG03209.hp2 HG03453.hp1 HG03927.hp1 HG04199.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0049 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0049 a0002c0002t0001g0006 a0002c0002t0001g0007	9	474	0.0190	-12	c.-34 others(23): Show c.-3477_-3466delAAGAAAGAAAGA	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3396		chr11	TogoVar
SAA4_chr11_18226355_18241802	18230035	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(240): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0005 a0001c0001 a0003c0003 a0005c0005	a0001c0001t0001 a0003c0003t0001 a0005c0005t0001 a0001c0001t0001 a0003c0003t0001 a0005c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0003c0003t0001g0017 a0005c0005t0001g0059	243	418	0.5813	-12	c.14 others(23): Show c.1455_*1466delTTTTTTTTTTTT	SAA4	ENSG00000148965.10	transcript	ENST00000278222.7	protein_coding		1319		chr11	TogoVar
SAC3D1_chr11_65036210_65049828	65043615	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0024 a0003c0004t0002g0024	1	352	0.0028	-12	c.575 others(27): Show c.575-593_575-582delAAAAAAAAAAAA	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686655	ATATATAT others(5): Show ATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 NA18951.hp2 NA19000.hp1 others(2): Show HG02015.hp1 NA18951.hp2 NA19000.hp1 NA19068.hp1 NA19079.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0020 a0002c0001t0001g0184 a0002c0001t0001g0221 a0002c0001t0001g0020 a0002c0001t0001g0184 a0002c0001t0001g0221	5	354	0.0141	-12	c.-28 others(23): Show c.-2810_-2799delTATATATATTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2740		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45748591	AATATATA others(5): Show AATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(130): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02056.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18970.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18989.hp1 NA18994.hp2 NA19000.hp2 NA19009.hp2 NA19054.hp2 NA19055.hp2 NA19063.hp2 NA19070.hp1 NA19079.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0001 others(1): Show a0001c0002 a0001c0004 a0002c0001 a0003c0005	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(8): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0004t0002 a0002c0001t0001 a0003c0005t0002	a0001c0002t0002g0004 a0001c0002t0002g0008 a0001c0002t0002g0009 others(94): Show a0001c0002t0002g0004 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0003g0002 a0001c0002t0003g0032 a0001c0002t0003g0141 a0001c0002t0003g0147 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0163 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0004g0018 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0100 a0001c0002t0004g0177 a0001c0002t0004g0178 a0001c0002t0004g0179 a0001c0002t0004g0180 a0001c0002t0004g0181 a0001c0002t0004g0182 a0001c0002t0004g0183 a0001c0002t0005g0017 a0001c0002t0005g0031 a0001c0002t0005g0136 a0001c0002t0005g0148 a0001c0002t0005g0149 a0001c0002t0005g0158 a0001c0002t0005g0159 a0001c0002t0005g0160 a0001c0002t0005g0161 a0001c0002t0005g0162 a0001c0002t0005g0170 a0001c0002t0005g0171 a0001c0002t0005g0174 a0001c0002t0005g0175 a0001c0002t0006g0016 a0001c0002t0006g0135 a0001c0002t0006g0150 a0001c0002t0011g0041 a0001c0002t0012g0118 a0001c0002t0013g0016 a0001c0004t0002g0134 a0001c0004t0002g0176 a0002c0001t0001g0053 a0003c0005t0002g0013	133	354	0.3757	-12	c.49 others(23): Show c.4923_*4934delATATATATATAT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		3183		chr3	TogoVar
SACS_chr13_23323830_23438702	23429345	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0259 a0001c0002t0002g0259	1	378	0.0027	-12	c.-50 others(31): Show c.-502+4258_-502+4269delAAAAAAAAAAAA	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	1/9			chr13	TogoVar
SAE1_chr19_47125835_47215636	47131697	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	380	0.0026	-12	c.98+ others(25): Show c.98+681_98+692delTTTTTTTTTTTT	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAE1_chr19_47125835_47215636	47154480	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	380	0.0026	-12	c.528 others(27): Show c.528-615_528-604delTTTTTTTTTTTT	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAE1_chr19_47125835_47215636	47194611	AGAGACAA others(5): Show AGAGACAAGGCTC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	380	0.0026	-12	c.734 others(29): Show c.734-2616_734-2605delAAGGCTCGAGAC	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAE1_chr19_47125835_47215636	47201360	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG02647.hp1 others(4): Show HG02280.hp2 HG02572.hp2 HG02647.hp1 HG02723.hp1 HG02886.hp1 HG03139.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0087 a0001c0001t0001g0204 a0001c0001t0001g0205 others(4): Show a0001c0001t0001g0087 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0223 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0196	7	380	0.0184	-12	c.879 others(29): Show c.879-2293_879-2282delTTTTTTTTTTTT	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAE1_chr19_47125835_47215636	47213079	CTTTGAAT others(5): Show CTTTGAATCAATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	380	0.0026	-12	c.38 others(23): Show c.3829_*3840delTTTGAATCAATA	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding		2444		chr19	TogoVar
SAE1_chr19_47125835_47215636	47215366	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	380	0.0026	-12	c.61 others(23): Show c.6116_*6127delAAAAAAAAAAAA	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding		4731		chr19	TogoVar
SAFB_chr19_5618083_5673478	5642651	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	282	0.0036	-12	c.546 others(27): Show c.546+720_546+731delTTTTTTTTTTTT	SAFB	ENSG00000160633.13	transcript	ENST00000588852.2	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAFB_chr19_5618083_5673478	5670986	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 NA18943.hp1 NA18992.hp2 others(3): Show HG02129.hp1 NA18943.hp1 NA18992.hp2 NA19056.hp1 NA19065.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0069 others(3): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0103 a0001c0001t0001g0157	6	282	0.0213	-12	c.26 others(23): Show c.2696_*2707delTTTTTTTTTTTT	SAFB	ENSG00000160633.13	transcript	ENST00000588852.2	protein_coding		2509		chr19	TogoVar
SAGSIN1_chr7_6324411_6353967	6327728	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	420	0.0024	-12	c.34 others(23): Show c.3475_*3486delTTTTTTTTTTTT	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding		1682		chr7	TogoVar
SAGSIN1_chr7_6324411_6353967	6343397	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02559.hp1 HG02615.hp1 others(3): Show HG00140.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0027	a0001c0001t0002g0358 a0001c0001t0003g0035 a0001c0001t0005g0402 others(3): Show a0001c0001t0002g0358 a0001c0001t0003g0035 a0001c0001t0005g0402 a0001c0001t0012g0011 a0001c0001t0013g0094 a0001c0001t0027g0124	6	420	0.0143	-12	c.186 others(29): Show c.186+5164_186+5175delATATATATATAT	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding	1/1			chr7	TogoVar
SAGSIN1_chr7_6324411_6353967	6351217	TTTTATTT others(5): Show TTTTATTTATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	420	0.0024	-12	c.-24 others(23): Show c.-2471_-2460delTAAATAAATAAA	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding		2251		chr7	TogoVar
SAGSIN1_chr7_6324411_6353967	6351230	TTAATTAT others(5): Show TTAATTATTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	420	0.0024	-12	c.-24 others(23): Show c.-2484_-2473delTAATAATAATTA	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding		2264		chr7	TogoVar
SAGSIN1_chr7_6324411_6353967	6351232	AATTATTA others(5): Show AATTATTATTATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02622.hp1 HG02809.hp1 others(3): Show HG02257.hp1 HG02622.hp1 HG02809.hp1 HG02896.hp2 HG03041.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0034 a0001c0001t0001 a0001c0001t0005 a0001c0001t0034	a0001c0001t0001g0404 a0001c0001t0001g0406 a0001c0001t0001g0408 others(3): Show a0001c0001t0001g0404 a0001c0001t0001g0406 a0001c0001t0001g0408 a0001c0001t0005g0345 a0001c0001t0005g0407 a0001c0001t0034g0405	6	420	0.0143	-12	c.-24 others(23): Show c.-2486_-2475delAATAATAATAAT	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding		2266		chr7	TogoVar

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