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
SPCS3_chr4_176314966_176337245	176334634	T T	TACACACA others(1): Show TACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 NA18956.hp2 NA18957.hp2 others(1): Show HG02055.hp1 NA18956.hp2 NA18957.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0001 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0002 a0001c0001t0004g0002 a0001c0001t0010g0002 a0001c0001t0001g0002 a0001c0001t0004g0002 a0001c0001t0010g0002	4	470	0.0085	8	c.63 others(19): Show c.6304_*6305insACACACAC	SPCS3	ENSG00000129128.13	transcript	ENST00000503362.2	protein_coding		2390		chr4	TogoVar
SPCS3_chr4_176314966_176337245	176334636	T T	TACACACA others(1): Show TACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00741.hp2 HG02109.hp1 others(37): Show HG00621.hp1 HG00741.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02280.hp1 HG02300.hp1 HG02622.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03225.hp1 HG03490.hp2 HG03927.hp1 HG04115.hp2 NA18522.hp2 NA18940.hp2 NA18951.hp1 NA18959.hp2 NA18966.hp1 NA18968.hp1 NA18977.hp1 NA18984.hp1 NA18991.hp2 NA18994.hp2 NA19005.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19074.hp2 NA19082.hp1 NA19086.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0022 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0057 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0002g0001 a0001c0001t0004g0002 a0001c0001t0004g0054 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0010g0002	40	470	0.0851	8	c.63 others(19): Show c.6306_*6307insACACACAC	SPCS3	ENSG00000129128.13	transcript	ENST00000503362.2	protein_coding		2392		chr4	TogoVar
SPDL1_chr5_169578773_169609778	169585016	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp1 HG01169.hp2 others(9): Show HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01496.hp2 HG02280.hp1 HG02717.hp2 HG03453.hp1 HG03540.hp2 HG04228.hp2 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0136 others(7): Show a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144	12	398	0.0302	8	c.-24 others(25): Show c.-24+1134_-24+1141dupAAAAAAAA	SPDL1	ENSG00000040275.17	transcript	ENST00000265295.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPDL1_chr5_169578773_169609778	169605573	T T	TGATAGAT others(1): Show TGATAGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp2 others(131): Show HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG01069.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18969.hp2 NA18971.hp1 NA18978.hp2 NA18982.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19082.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0009 a0012	a0001c0001 a0001c0013 a0002c0002 others(4): Show a0001c0001 a0001c0013 a0002c0002 a0002c0004 a0008c0014 a0009c0009 a0012c0010	a0001c0001t0001 a0001c0001t0003 a0001c0013t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0008c0014t0001 a0009c0009t0001 a0012c0010t0007	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0003g0042 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0013t0001g0131 a0002c0002t0001g0013 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0025 a0002c0002t0002g0027 a0002c0002t0002g0029 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0067 a0002c0004t0001g0030 a0008c0014t0001g0066 a0009c0009t0001g0045 a0012c0010t0007g0051	134	398	0.3367	8	c.13 others(19): Show c.1366_*1367insGATAGATA	SPDL1	ENSG00000040275.17	transcript	ENST00000265295.9	protein_coding		796		chr5	TogoVar
SPDYA_chr2_28805834_28855610	28815283	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18960.hp1 NA19065.hp2 HG03927.hp1 NA18960.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0189 a0001c0001t0001g0202 a0001c0001t0001g0050 a0001c0001t0001g0189 a0001c0001t0001g0202	3	338	0.0089	8	c.-19 others(23): Show c.-19+634_-19+641dupACACACAC	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28823702	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01081.hp1 HG01257.hp2 others(16): Show HG00621.hp1 HG01081.hp1 HG01257.hp2 HG01261.hp1 HG01515.hp2 HG01517.hp2 HG02071.hp2 HG02615.hp2 HG02818.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04204.hp1 NA18953.hp2 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA19000.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0116 a0001c0001t0001g0117 others(16): Show a0001c0001t0001g0039 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0147 a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0273 a0001c0001t0001g0319	19	338	0.0562	8	c.380 others(25): Show c.380+1328_380+1335dupTATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28834081	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02572.hp2 HG03195.hp2 others(1): Show HG02071.hp2 HG02572.hp2 HG03195.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0234 a0001c0001t0001g0235 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0274	4	338	0.0118	8	c.552 others(25): Show c.552+4789_552+4796dupACACACAC	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYC_chr11_65165233_65178374	65166391	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG02074.hp1 NA18947.hp2 others(3): Show HG01952.hp1 HG02074.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0020	6	442	0.0136	8	c.-39 others(19): Show c.-3902_-3901insTTTTTTTT	SPDYC	ENSG00000204710.3	transcript	ENST00000377185.3	protein_coding		3841		chr11	TogoVar
SPDYC_chr11_65165233_65178374	65170895	C C	CAAAAACC others(1): Show CAAAAACCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02976.hp1 others(2): Show HG01891.hp2 HG02451.hp1 HG02976.hp1 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	5	442	0.0113	8	c.-31 others(23): Show c.-31-424_-31-417dupAAAAAACC	SPDYC	ENSG00000204710.3	transcript	ENST00000377185.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPDYE10_chr7_73099008_73160431	73123782	T T	TCTCTCTC others(1): Show TCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19079.hp2 HG02738.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0002 a0001c0001t0003 a0002c0003t0002	a0001c0001t0003g0195 a0002c0003t0002g0161 a0001c0001t0003g0195 a0002c0003t0002g0161	2	216	0.0093	8	c.-63 others(27): Show c.-639-8241_-639-8240insGGAGAGAG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73123788	C C	CCTCTCTC others(1): Show CCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01258.hp2 HG02074.hp1 others(14): Show HG00544.hp1 HG01258.hp2 HG02074.hp1 HG02135.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02723.hp1 HG02735.hp2 HG02897.hp1 HG02970.hp2 HG03225.hp2 HG03516.hp2 HG03579.hp2 NA18747.hp2 NA19002.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0006t0002 a0002c0003t0002 a0002c0003t0004 a0002c0004t0001 a0002c0004t0004	a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0147 others(14): Show a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0147 a0001c0001t0002g0167 a0001c0001t0003g0039 a0001c0001t0003g0157 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0017g0192 a0001c0001t0018g0015 a0001c0002t0001g0067 a0001c0006t0002g0148 a0002c0003t0002g0158 a0002c0003t0004g0054 a0002c0004t0001g0169 a0002c0004t0004g0126 a0002c0004t0004g0127	17	216	0.0787	8	c.-63 others(27): Show c.-639-8254_-639-8247dupAGAGAGAG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73124921	C C	CTAAATAA others(1): Show CTAAATAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01169.hp2 HG01884.hp1 others(12): Show HG00639.hp2 HG01169.hp2 HG01884.hp1 HG02109.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp2 HG02647.hp1 HG02809.hp1 HG02976.hp1 HG03195.hp1 HG03225.hp1 HG03540.hp1 HG03579.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0005 a0001c0001 a0001c0006 a0003c0005	a0001c0001t0019 a0001c0006t0005 a0003c0005t0005 others(2): Show a0001c0001t0019 a0001c0006t0005 a0003c0005t0005 a0003c0005t0008 a0003c0005t0012	a0001c0001t0019g0047 a0001c0006t0005g0213 a0003c0005t0005g0128 others(12): Show a0001c0001t0019g0047 a0001c0006t0005g0213 a0003c0005t0005g0128 a0003c0005t0005g0132 a0003c0005t0005g0133 a0003c0005t0005g0134 a0003c0005t0005g0135 a0003c0005t0005g0136 a0003c0005t0005g0139 a0003c0005t0005g0140 a0003c0005t0008g0131 a0003c0005t0008g0137 a0003c0005t0008g0138 a0003c0005t0012g0130 a0003c0005t0012g0142	15	216	0.0694	8	c.-63 others(27): Show c.-639-9387_-639-9380dupTTTATTTA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73131203	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00609.hp1 others(69): Show HG00280.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01169.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02809.hp1 HG02976.hp1 HG03195.hp1 HG03225.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 NA18906.hp1 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp1 NA18977.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18998.hp2 NA19002.hp1 NA19012.hp1 NA19012.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19079.hp1 NA19084.hp2 NA19091.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0010 a0011	a0001c0002 a0001c0006 a0001c0016 others(5): Show a0001c0002 a0001c0006 a0001c0016 a0002c0004 a0003c0005 a0007c0015 a0010c0010 a0011c0013	a0001c0002t0001 a0001c0002t0021 a0001c0006t0001 others(11): Show a0001c0002t0001 a0001c0002t0021 a0001c0006t0001 a0001c0006t0005 a0001c0016t0001 a0002c0004t0001 a0002c0004t0004 a0003c0005t0005 a0003c0005t0008 a0003c0005t0012 a0003c0005t0023 a0007c0015t0001 a0010c0010t0001 a0011c0013t0001	a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 others(69): Show a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0095 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0021g0061 a0001c0006t0001g0087 a0001c0006t0005g0213 a0001c0016t0001g0096 a0002c0004t0001g0073 a0002c0004t0001g0090 a0002c0004t0001g0093 a0002c0004t0001g0094 a0002c0004t0001g0101 a0002c0004t0001g0113 a0002c0004t0004g0065 a0002c0004t0004g0083 a0003c0005t0005g0128 a0003c0005t0005g0132 a0003c0005t0005g0133 a0003c0005t0005g0134 a0003c0005t0005g0135 a0003c0005t0005g0136 a0003c0005t0005g0140 a0003c0005t0008g0131 a0003c0005t0008g0137 a0003c0005t0008g0138 a0003c0005t0012g0130 a0003c0005t0012g0142 a0003c0005t0023g0141 a0007c0015t0001g0103 a0010c0010t0001g0074 a0011c0013t0001g0179	72	216	0.3333	8	c.-63 others(29): Show c.-639-15669_-639-15662dupTTTTTTTT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73135406	G G	GCATTCAT others(1): Show GCATTCATT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03516.hp1 NA18990.hp1 HG02809.hp2 HG03516.hp1 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0004 a0002c0003t0011 a0001c0001t0002 a0002c0003t0004 a0002c0003t0011	a0001c0001t0002g0205 a0002c0003t0004g0009 a0002c0003t0011g0207 a0001c0001t0002g0205 a0002c0003t0004g0009 a0002c0003t0011g0207	3	216	0.0139	8	c.-63 others(29): Show c.-639-19872_-639-19865dupAATGAATG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73137593	T T	TGAAAGAA others(1): Show TGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG01361.hp2 others(22): Show HG00544.hp2 HG00609.hp2 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02602.hp2 HG03130.hp2 HG03195.hp2 HG03516.hp1 HG03579.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 NA18747.hp1 NA18963.hp1 NA18963.hp2 NA18989.hp1 NA18992.hp1 NA19002.hp1 NA19007.hp2 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0010	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0005 a0006c0008 a0008c0014 a0010c0010	a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 others(10): Show a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0011 a0002c0004t0001 a0002c0004t0007 a0003c0005t0005 a0006c0008t0004 a0008c0014t0022 a0010c0010t0001	a0001c0001t0002g0034 a0001c0001t0002g0163 a0001c0002t0001g0049 others(22): Show a0001c0001t0002g0034 a0001c0001t0002g0163 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0069 a0001c0002t0001g0076 a0001c0002t0001g0088 a0001c0002t0001g0091 a0001c0002t0001g0115 a0001c0002t0001g0117 a0002c0003t0001g0155 a0002c0003t0002g0045 a0002c0003t0002g0149 a0002c0003t0002g0166 a0002c0003t0003g0164 a0002c0003t0003g0203 a0002c0003t0004g0054 a0002c0003t0004g0057 a0002c0003t0011g0207 a0002c0004t0001g0094 a0002c0004t0007g0055 a0003c0005t0005g0139 a0006c0008t0004g0051 a0008c0014t0022g0006 a0010c0010t0001g0074	25	216	0.1157	8	c.-64 others(29): Show c.-640+17722_-640+17729dupTTTCTTTC	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73142980	G G	GAGGAAGG others(1): Show GAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01258.hp2 HG01346.hp2 others(10): Show HG00673.hp1 HG01258.hp2 HG01346.hp2 HG02083.hp2 HG02572.hp1 HG02622.hp1 HG03490.hp1 HG03831.hp1 NA18747.hp1 NA18950.hp2 NA18963.hp2 NA18989.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0002c0003t0001 others(4): Show a0001c0001t0002 a0001c0001t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0010 a0002c0004t0004 a0003c0005t0023	a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0197 others(10): Show a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0003g0029 a0001c0001t0003g0172 a0001c0001t0003g0187 a0002c0003t0001g0155 a0002c0003t0002g0151 a0002c0003t0002g0153 a0002c0003t0010g0199 a0002c0004t0004g0126 a0003c0005t0023g0141	13	216	0.0602	8	c.-64 others(29): Show c.-640+12335_-640+12342dupTCCTTCCT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73142980	G G	GAGGGAGG others(1): Show GAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG00738.hp2 others(6): Show HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01943.hp2 HG02300.hp1 HG02970.hp1 NA18951.hp1 NA19007.hp1 NA19084.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0011c0013	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0006t0002 a0001c0006t0005 a0011c0013t0001	a0001c0001t0002g0188 a0001c0001t0004g0033 a0001c0002t0001g0001 others(6): Show a0001c0001t0002g0188 a0001c0001t0004g0033 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0058 a0001c0002t0001g0098 a0001c0006t0002g0183 a0001c0006t0005g0005 a0011c0013t0001g0179	9	216	0.0417	8	c.-64 others(29): Show c.-640+12342_-640+12343insTCCTCCCT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73143030	G G	GGAAGGAA others(1): Show GGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03669.hp2 HG04204.hp1 HG02698.hp2 HG03669.hp2 HG04204.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0025 a0001c0006t0014 a0001c0006t0025	a0001c0006t0014g0214 a0001c0006t0014g0215 a0001c0006t0025g0216 a0001c0006t0014g0214 a0001c0006t0014g0215 a0001c0006t0025g0216	3	216	0.0139	8	c.-64 others(29): Show c.-640+12292_-640+12293insTTTCCTTC	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156138	A A	ACACACAC others(1): Show ACACACACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00733.hp2 HG03486.hp1 others(1): Show HG00423.hp2 HG00733.hp2 HG03486.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0163 a0001c0001t0003g0162 a0001c0001t0004g0030 others(1): Show a0001c0001t0002g0163 a0001c0001t0003g0162 a0001c0001t0004g0030 a0001c0001t0004g0033	4	216	0.0185	8	c.-14 others(19): Show c.-1456_-1455insAGTGTGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		708		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156167	G G	GTCTCTCT others(1): Show GTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02647.hp1 HG03130.hp1 others(2): Show HG00609.hp2 HG02647.hp1 HG03130.hp1 HG03654.hp1 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0019 a0002c0003t0002 others(1): Show a0001c0001t0002 a0001c0001t0019 a0002c0003t0002 a0002c0003t0003	a0001c0001t0002g0012 a0001c0001t0002g0163 a0001c0001t0019g0047 others(2): Show a0001c0001t0002g0012 a0001c0001t0002g0163 a0001c0001t0019g0047 a0002c0003t0002g0159 a0002c0003t0003g0164	5	216	0.0232	8	c.-14 others(19): Show c.-1485_-1484insGAGAGAGA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		737		chr7	TogoVar
SPDYE12_chr7_74899289_74920078	74903999	A A	AAAACAAA others(1): Show AAAACAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01257.hp2 HG01361.hp2 others(5): Show HG00738.hp2 HG01257.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01952.hp2 NA18906.hp2 NA18952.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0012 a0001c0001t0001 a0003c0003t0012	a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0033 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0102 a0003c0003t0012g0049	8	350	0.0229	8	c.18 others(19): Show c.1817_*1818insGTTTGTTT	SPDYE12	ENSG00000184616.12	transcript	ENST00000618416.5	protein_coding		289		chr7	TogoVar
SPDYE12_chr7_74899289_74920078	74907732	G G	GATAAATA others(1): Show GATAAATAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03098.hp2 NA20300.hp1 HG02155.hp2 HG03098.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0093 a0001c0001t0001g0126 a0001c0001t0001g0059 a0001c0001t0001g0093 a0001c0001t0001g0126	3	350	0.0086	8	c.495 others(23): Show c.495-645_495-638dupTTATTTAT	SPDYE12	ENSG00000184616.12	transcript	ENST00000618416.5	protein_coding	5/7			chr7	TogoVar
SPDYE17_chr7_77017306_77037361	77025745	G G	GATAAATA others(1): Show GATAAATAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01496.hp2 HG01516.hp2 others(25): Show HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01934.hp1 HG02004.hp2 HG02074.hp2 HG02572.hp2 HG03209.hp1 NA18747.hp2 NA18943.hp2 NA18945.hp2 NA18953.hp1 NA18957.hp2 NA18967.hp2 NA18974.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18992.hp2 NA18994.hp1 NA19010.hp1 NA19010.hp2 NA19060.hp2 NA19082.hp1 NA19088.hp1 NA19088.hp2 NA21309.hp2	a0002 a0003 a0011 others(1): Show a0002 a0003 a0011 a0012	a0002c0002 a0003c0003 a0011c0008 others(1): Show a0002c0002 a0003c0003 a0011c0008 a0012c0007	a0002c0002t0002 a0002c0002t0004 a0003c0003t0008 others(4): Show a0002c0002t0002 a0002c0002t0004 a0003c0003t0008 a0003c0003t0009 a0003c0003t0018 a0011c0008t0017 a0012c0007t0004	a0002c0002t0002g0072 a0002c0002t0002g0077 a0002c0002t0002g0081 others(16): Show a0002c0002t0002g0072 a0002c0002t0002g0077 a0002c0002t0002g0081 a0002c0002t0002g0084 a0002c0002t0004g0005 a0002c0002t0004g0017 a0002c0002t0004g0036 a0002c0002t0004g0049 a0002c0002t0004g0052 a0002c0002t0004g0053 a0002c0002t0004g0066 a0003c0003t0008g0024 a0003c0003t0008g0041 a0003c0003t0008g0042 a0003c0003t0008g0043 a0003c0003t0009g0039 a0003c0003t0018g0044 a0011c0008t0017g0054 a0012c0007t0004g0047	28	295	0.0949	8	c.495 others(23): Show c.495-642_495-635dupTTATTTAT	SPDYE17	ENSG00000186645.11	transcript	ENST00000671986.3	protein_coding	5/7			chr7	TogoVar
SPDYE17_chr7_77017306_77037361	77031698	A A	AAACAAAA others(1): Show AAACAAAAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03471.hp2 NA18939.hp2 HG02886.hp1 HG03471.hp2 NA18939.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0016 a0010c0013t0003 a0001c0001t0016 a0010c0013t0003	a0001c0001t0016g0136 a0001c0001t0016g0137 a0010c0013t0003g0142 a0001c0001t0016g0136 a0001c0001t0016g0137 a0010c0013t0003g0142	3	295	0.0102	8	c.-45 others(25): Show c.-454+541_-454+542insGTTTTGTT	SPDYE17	ENSG00000186645.11	transcript	ENST00000671986.3	protein_coding	1/7			chr7	TogoVar
SPDYE17_chr7_77017306_77037361	77036216	A A	ATGTGTGT others(1): Show ATGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02486.hp2 HG03098.hp2 others(1): Show HG01167.hp1 HG02486.hp2 HG03098.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0019 a0001c0001t0001g0118 a0003c0003t0003g0001 a0001c0001t0001g0019 a0001c0001t0001g0118 a0003c0003t0003g0001	4	295	0.0136	8	c.-44 others(19): Show c.-4431_-4430insCACACACA	SPDYE17	ENSG00000186645.11	transcript	ENST00000671986.3	protein_coding		3856		chr7	TogoVar
SPDYE18_chr7_77045391_77067558	77056411	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00544.hp2 others(45): Show HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00597.hp2 HG00733.hp2 HG00738.hp1 HG01081.hp2 HG01168.hp2 HG01496.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp2 HG02293.hp2 HG02523.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02738.hp2 HG03834.hp1 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18970.hp1 NA18973.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18997.hp2 NA18998.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19089.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0021 a0001c0001t0038 others(2): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0038 a0002c0002t0005 a0004c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(20): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0151 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0021g0123 a0001c0001t0038g0142 a0002c0002t0005g0013 a0002c0002t0005g0038 a0002c0002t0005g0108 a0002c0002t0005g0109 a0002c0002t0005g0112 a0002c0002t0005g0113 a0002c0002t0005g0117 a0002c0002t0005g0118 a0004c0004t0001g0041 a0004c0004t0001g0141	48	416	0.1154	8	c.669 others(23): Show c.669+131_669+138dupTTTTTTTT	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding	5/8			chr7	TogoVar
SPDYE18_chr7_77045391_77067558	77064586	T T	TACACACA others(1): Show TACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00544.hp1 others(84): Show HG00323.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02615.hp2 HG02896.hp2 HG03239.hp2 HG03491.hp2 HG03669.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp2 NA18993.hp1 NA18995.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19012.hp1 NA19030.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp2 NA19077.hp1 NA19085.hp1 NA19088.hp2 NA19089.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0026 a0001c0001t0034 a0002c0002t0005	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(59): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0003g0001 a0001c0001t0003g0029 a0001c0001t0003g0052 a0001c0001t0003g0198 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0221 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0004g0002 a0001c0001t0004g0087 a0001c0001t0010g0021 a0001c0001t0010g0121 a0001c0001t0017g0103 a0001c0001t0018g0084 a0001c0001t0018g0090 a0001c0001t0021g0123 a0001c0001t0026g0063 a0001c0001t0034g0130 a0002c0002t0005g0110 a0002c0002t0005g0115 a0002c0002t0005g0117	87	416	0.2091	8	c.-25 others(19): Show c.-2513_-2512insGTGTGTGT	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding		2029		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43995839	C C	CGTGTGTG others(1): Show CGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG01123.hp2 others(21): Show HG00280.hp2 HG00621.hp2 HG01123.hp2 HG01261.hp2 HG01346.hp2 HG01981.hp1 HG02165.hp1 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG03139.hp1 HG03225.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG06807.hp1 NA18975.hp2 NA18995.hp1 NA19007.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0006 a0001c0001t0008 a0002c0002t0001 others(4): Show a0001c0001t0006 a0001c0001t0008 a0002c0002t0001 a0002c0002t0007 a0002c0002t0015 a0003c0003t0003 a0003c0003t0011	a0001c0001t0006g0007 a0001c0001t0006g0032 a0001c0001t0008g0076 others(14): Show a0001c0001t0006g0007 a0001c0001t0006g0032 a0001c0001t0008g0076 a0002c0002t0001g0002 a0002c0002t0001g0025 a0002c0002t0001g0041 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0007g0002 a0002c0002t0015g0002 a0003c0003t0003g0005 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0028 a0003c0003t0011g0010	24	394	0.0609	8	c.-25 others(19): Show c.-2543_-2542insGTGTGTGT	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		2057		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43995980	T T	TATGTATG others(1): Show TATGTATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00738.hp2 others(34): Show HG00280.hp2 HG00544.hp2 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01123.hp2 HG01261.hp2 HG01496.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02071.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02698.hp2 HG02895.hp2 HG03139.hp1 HG03927.hp1 HG06807.hp2 NA18747.hp1 NA18946.hp1 NA18960.hp2 NA18971.hp1 NA18978.hp2 NA18986.hp1 NA18989.hp1 NA18995.hp1 NA18998.hp2 NA19054.hp2 NA19082.hp2 NA19087.hp1 NA19089.hp1 NA19090.hp1 homoSapiens_chm13v2.hp1	a0003 a0012 a0013 others(1): Show a0003 a0012 a0013 a0019	a0003c0003 a0012c0023 a0013c0024 others(1): Show a0003c0003 a0012c0023 a0013c0024 a0019c0022	a0003c0003t0003 a0003c0003t0011 a0003c0003t0018 others(3): Show a0003c0003t0003 a0003c0003t0011 a0003c0003t0018 a0012c0023t0003 a0013c0024t0003 a0019c0022t0003	a0003c0003t0003g0005 a0003c0003t0003g0010 a0003c0003t0003g0017 others(21): Show a0003c0003t0003g0005 a0003c0003t0003g0010 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0055 a0003c0003t0003g0056 a0003c0003t0003g0057 a0003c0003t0003g0058 a0003c0003t0003g0059 a0003c0003t0003g0060 a0003c0003t0003g0061 a0003c0003t0003g0062 a0003c0003t0003g0063 a0003c0003t0003g0111 a0003c0003t0011g0010 a0003c0003t0011g0030 a0003c0003t0018g0005 a0012c0023t0003g0005 a0013c0024t0003g0030 a0019c0022t0003g0028	37	394	0.0939	8	c.-24 others(19): Show c.-2402_-2401insATGTATGC	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		1916		chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67287363	C C	CACAGTTG others(1): Show CACAGTTGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03831.hp2 HG03834.hp2 others(1): Show HG02698.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0066 a0003c0003t0002g0181 a0003c0003t0002g0190 a0003c0003t0002g0066 a0003c0003t0002g0181 a0003c0003t0002g0190	4	460	0.0087	8	c.46 others(23): Show c.46-153_*46-152insAGTTGAAC	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102646923	G G	GGAAAGAA others(1): Show GGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG01175.hp2 others(6): Show HG00733.hp1 HG00733.hp2 HG01175.hp2 HG01517.hp1 HG03098.hp2 NA18747.hp2 NA19002.hp2 NA19090.hp1 NA21309.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0003c0004 others(1): Show a0002c0002 a0003c0003 a0003c0004 a0004c0008	a0002c0002t0002 a0002c0002t0032 a0003c0003t0004 others(3): Show a0002c0002t0002 a0002c0002t0032 a0003c0003t0004 a0003c0003t0028 a0003c0004t0034 a0004c0008t0013	a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0063 others(6): Show a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0063 a0002c0002t0032g0113 a0003c0003t0004g0093 a0003c0003t0004g0107 a0003c0003t0028g0100 a0003c0004t0034g0073 a0004c0008t0013g0048	9	128	0.0703	8	c.-38 others(19): Show c.-3876_-3875insGAAAGAAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		3395		chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102647004	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01517.hp2 HG02698.hp1 others(9): Show HG00733.hp2 HG01517.hp2 HG02698.hp1 HG02698.hp2 HG03098.hp2 HG04115.hp2 HG04228.hp2 NA18956.hp2 NA18971.hp2 NA18979.hp1 NA19002.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0014	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0003c0004 a0014c0012	a0001c0001t0004 a0002c0002t0032 a0003c0003t0004 others(6): Show a0001c0001t0004 a0002c0002t0032 a0003c0003t0004 a0003c0003t0019 a0003c0004t0033 a0003c0004t0034 a0003c0004t0035 a0003c0004t0036 a0014c0012t0005	a0001c0001t0004g0099 a0002c0002t0032g0113 a0003c0003t0004g0091 others(9): Show a0001c0001t0004g0099 a0002c0002t0032g0113 a0003c0003t0004g0091 a0003c0003t0004g0093 a0003c0003t0004g0094 a0003c0003t0004g0096 a0003c0003t0019g0075 a0003c0004t0033g0074 a0003c0004t0034g0073 a0003c0004t0035g0111 a0003c0004t0036g0072 a0014c0012t0005g0046	12	128	0.0938	8	c.-37 others(19): Show c.-3795_-3794insTTTTTTTT	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		3314		chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102648345	C C	CGTGTGTG others(1): Show CGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG03491.hp1 HG01175.hp1 HG03491.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0021 a0001c0001 a0010c0021	a0001c0001t0014 a0010c0021t0007 a0001c0001t0014 a0010c0021t0007	a0001c0001t0014g0084 a0010c0021t0007g0037 a0001c0001t0014g0084 a0010c0021t0007g0037	2	128	0.0156	8	c.-24 others(19): Show c.-2454_-2453insGTGTGTGT	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		1973		chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102654716	C C	CAACAACA others(1): Show CAACAACAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp1 HG03139.hp1 others(2): Show HG02451.hp2 HG02970.hp1 HG03139.hp1 HG03139.hp2 NA18906.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 others(2): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0007c0010t0011 a0007c0010t0038	a0001c0001t0010g0101 a0001c0001t0011g0069 a0001c0001t0018g0016 others(2): Show a0001c0001t0010g0101 a0001c0001t0011g0069 a0001c0001t0018g0016 a0007c0010t0011g0017 a0007c0010t0038g0110	5	128	0.0391	8	c.380 others(23): Show c.380-268_380-267insAACAACAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding	3/8			chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102664310	C C	CTTTTTTT others(1): Show CTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG04115.hp2 NA18747.hp2 others(2): Show HG02897.hp2 HG04115.hp2 NA18747.hp2 NA18979.hp1 NA19063.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0003c0004 others(1): Show a0001c0001 a0003c0003 a0003c0004 a0004c0007	a0001c0001t0001 a0003c0003t0004 a0003c0003t0028 others(2): Show a0001c0001t0001 a0003c0003t0004 a0003c0003t0028 a0003c0004t0035 a0004c0007t0024	a0001c0001t0001g0097 a0003c0003t0004g0091 a0003c0003t0028g0100 others(2): Show a0001c0001t0001g0097 a0003c0003t0004g0091 a0003c0003t0028g0100 a0003c0004t0035g0111 a0004c0007t0024g0003	5	128	0.0391	8	c.32 others(19): Show c.3210_*3211insTTTTTTTT	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		1686		chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102665054	C C	CCTTTCTT others(1): Show CCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01167.hp1 HG01167.hp2 others(13): Show HG01081.hp1 HG01167.hp1 HG01167.hp2 HG01433.hp2 HG01975.hp2 HG02132.hp1 HG02572.hp2 HG02970.hp1 HG03579.hp1 NA18984.hp2 NA18990.hp1 NA19002.hp1 NA19085.hp1 NA19090.hp2 NA20805.hp1 NA20805.hp2	a0001 a0004 a0007 others(2): Show a0001 a0004 a0007 a0008 a0012	a0001c0001 a0001c0005 a0001c0013 others(4): Show a0001c0001 a0001c0005 a0001c0013 a0004c0008 a0007c0010 a0008c0019 a0012c0018	a0001c0001t0003 a0001c0005t0003 a0001c0013t0023 others(4): Show a0001c0001t0003 a0001c0005t0003 a0001c0013t0023 a0004c0008t0026 a0007c0010t0011 a0008c0019t0001 a0012c0018t0003	a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0079 others(12): Show a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0005t0003g0007 a0001c0005t0003g0008 a0001c0005t0003g0053 a0001c0005t0003g0077 a0001c0013t0023g0115 a0004c0008t0026g0114 a0007c0010t0011g0017 a0008c0019t0001g0078 a0012c0018t0003g0008	16	128	0.1250	8	c.39 others(19): Show c.3954_*3955insCTTTCTTT	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		2430		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547832	G G	GGAAAGAA others(1): Show GGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02145.hp1 HG03098.hp2 others(2): Show HG00642.hp1 HG02145.hp1 HG03098.hp2 NA19030.hp1 NA20752.hp1	a0001 a0019 a0027 a0001 a0019 a0027	a0001c0001 a0019c0023 a0027c0026 a0001c0001 a0019c0023 a0027c0026	a0001c0001t0001 a0019c0023t0003 a0027c0026t0003 a0001c0001t0001 a0019c0023t0003 a0027c0026t0003	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0019c0023t0003g0099 a0027c0026t0003g0037	5	164	0.0305	8	c.-38 others(19): Show c.-3878_-3877insGAAAGAAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3393		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102549251	C C	CGTGTGTG others(1): Show CGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01346.hp2 others(3): Show HG01257.hp1 HG01258.hp1 HG01346.hp2 HG02145.hp2 HG02451.hp1 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0021 a0002c0006t0006 a0001c0001t0001 a0001c0001t0021 a0002c0006t0006	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0058 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0058 a0001c0001t0001g0126 a0001c0001t0021g0045 a0002c0006t0006g0131	6	164	0.0366	8	c.-24 others(19): Show c.-2459_-2458insGTGTGTGT	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		1974		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102555633	C C	CAACAACA others(1): Show CAACAACAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02071.hp1 HG02451.hp2 others(3): Show HG02055.hp2 HG02071.hp1 HG02451.hp2 HG03041.hp1 NA19091.hp1 NA19091.hp2	a0001 a0002 a0018 others(1): Show a0001 a0002 a0018 a0031	a0001c0001 a0001c0025 a0002c0008 others(2): Show a0001c0001 a0001c0025 a0002c0008 a0018c0035 a0031c0019	a0001c0001t0017 a0001c0025t0018 a0002c0008t0008 others(2): Show a0001c0001t0017 a0001c0025t0018 a0002c0008t0008 a0018c0035t0002 a0031c0019t0012	a0001c0001t0017g0140 a0001c0025t0018g0103 a0002c0008t0008g0127 others(3): Show a0001c0001t0017g0140 a0001c0025t0018g0103 a0002c0008t0008g0127 a0002c0008t0008g0132 a0018c0035t0002g0044 a0031c0019t0012g0102	6	164	0.0366	8	c.380 others(23): Show c.380-265_380-264insCAACAAAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE3_chr7_100302702_100327196	100318887	G G	GTTATTTA others(1): Show GTTATTTAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01496.hp2 HG01884.hp2 others(14): Show HG01192.hp1 HG01496.hp2 HG01884.hp2 HG02055.hp2 HG02165.hp2 HG02486.hp1 HG02809.hp2 HG02976.hp2 HG03710.hp1 HG03831.hp1 NA18747.hp1 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0006c0015	a0001c0001t0001 a0001c0002t0001 a0001c0003t0007 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0007 a0006c0015t0007	a0001c0001t0001g0004 a0001c0001t0001g0062 a0001c0001t0001g0077 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0062 a0001c0001t0001g0077 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0002t0001g0054 a0001c0003t0007g0170 a0006c0015t0007g0175	17	344	0.0494	8	c.134 others(25): Show c.1347-645_1347-638dupTTATTTAT	SPDYE3	ENSG00000214300.7	transcript	ENST00000332397.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE8_chr7_73014719_73034766	73023161	G G	GATAAATA others(1): Show GATAAATAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp1 HG03239.hp2 others(2): Show HG01261.hp1 HG01496.hp1 HG03239.hp2 NA18960.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0001 a0002c0002t0007 others(1): Show a0001c0001t0009 a0002c0002t0001 a0002c0002t0007 a0002c0002t0014	a0001c0001t0009g0107 a0002c0002t0001g0025 a0002c0002t0001g0026 others(2): Show a0001c0001t0009g0107 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0007g0081 a0002c0002t0014g0084	5	138	0.0362	8	c.495 others(23): Show c.495-645_495-638dupTTATTTAT	SPDYE8	ENSG00000273520.6	transcript	ENST00000333385.11	protein_coding	5/7			chr7	TogoVar
SPDYE8_chr7_73014719_73034766	73033668	A A	ATGTGTGT others(1): Show ATGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02080.hp2 HG02129.hp1 others(4): Show HG00140.hp2 HG02080.hp2 HG02129.hp1 HG02257.hp2 NA18992.hp1 NA19005.hp2 NA20752.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0011 a0001c0001 a0016c0011	a0001c0001t0001 a0001c0001t0007 a0016c0011t0001 a0001c0001t0001 a0001c0001t0007 a0016c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0021 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0059 a0001c0001t0007g0106 a0016c0011t0001g0069	7	138	0.0507	8	c.-44 others(19): Show c.-4478_-4477insCACACACA	SPDYE8	ENSG00000273520.6	transcript	ENST00000333385.11	protein_coding		3903		chr7	TogoVar
SPDYE9_chr7_73070972_73091038	73089940	A A	ATGTGTGT others(1): Show ATGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01891.hp1 HG01099.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0122 a0001c0001t0011g0021 a0001c0001t0001g0122 a0001c0001t0011g0021	2	164	0.0122	8	c.-44 others(19): Show c.-4478_-4477insCACACACA	SPDYE9	ENSG00000262461.7	transcript	ENST00000575125.6	protein_coding		3903		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24270252	T T	TACATACA others(1): Show TACATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03834.hp2 HG04115.hp2 HG03654.hp2 HG03834.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0036 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0036	3	326	0.0092	8	c.-87 others(17): Show c.-873_-872insACATACAC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		578		chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24303844	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02895.hp2 NA19068.hp2 HG02738.hp1 HG02895.hp2 NA19068.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0001 a0001c0001t0013 a0007c0006t0020 a0001c0001t0001 a0001c0001t0013 a0007c0006t0020	a0001c0001t0001g0002 a0001c0001t0013g0281 a0007c0006t0020g0069 a0001c0001t0001g0002 a0001c0001t0013g0281 a0007c0006t0020g0069	3	326	0.0092	8	c.153 others(25): Show c.153+1495_153+1502dupGTGTGTGT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24316274	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02080.hp1 HG02572.hp2 others(24): Show HG00438.hp1 HG02080.hp1 HG02572.hp2 HG02717.hp1 HG03654.hp2 HG03834.hp2 HG04115.hp2 NA18747.hp1 NA18939.hp1 NA18945.hp1 NA18947.hp2 NA18955.hp2 NA18960.hp2 NA18961.hp1 NA18968.hp1 NA18969.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA19000.hp1 NA19005.hp2 NA19070.hp1 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0016 others(2): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0016 a0001c0001t0034 a0001c0001t0037	a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(24): Show a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0065 a0001c0001t0004g0068 a0001c0001t0015g0012 a0001c0001t0015g0013 a0001c0001t0016g0026 a0001c0001t0016g0027 a0001c0001t0034g0018 a0001c0001t0037g0034	27	326	0.0828	8	c.307 others(25): Show c.307+2827_307+2834dupTATTTATT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24325538	G G	GATTTATT others(1): Show GATTTATTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02572.hp2 HG02717.hp1 others(4): Show HG02080.hp2 HG02572.hp2 HG02717.hp1 HG04199.hp1 NA18974.hp1 NA18995.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0223 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0223 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0015g0012 a0001c0001t0015g0013	7	326	0.0215	8	c.214 others(27): Show c.2146+1146_2146+1153dupTTATTTAT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24355426	C C	CCTGTCTG others(1): Show CCTGTCTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02080.hp1 HG02572.hp2 others(26): Show HG00438.hp1 HG02080.hp1 HG02572.hp2 HG02717.hp1 HG02738.hp1 HG02965.hp2 HG03654.hp2 HG03834.hp2 HG04115.hp2 NA18747.hp1 NA18939.hp1 NA18945.hp1 NA18947.hp2 NA18955.hp2 NA18960.hp2 NA18961.hp1 NA18968.hp1 NA18969.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA19000.hp1 NA19005.hp2 NA19070.hp1 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0004 a0001c0001t0015 a0001c0001t0016 others(4): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0016 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0007c0006t0020	a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 others(26): Show a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0065 a0001c0001t0004g0068 a0001c0001t0015g0012 a0001c0001t0015g0013 a0001c0001t0016g0026 a0001c0001t0016g0027 a0001c0001t0034g0018 a0001c0001t0036g0011 a0001c0001t0037g0034 a0007c0006t0020g0069	29	326	0.0890	8	c.274 others(27): Show c.2744-7824_2744-7817dupGTCTGTCT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24390860	T T	TTTTTTTT others(1): Show TTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00673.hp2 others(10): Show HG00323.hp2 HG00544.hp1 HG00673.hp2 HG01175.hp2 HG01433.hp2 HG02074.hp1 HG02155.hp2 HG02735.hp1 NA19002.hp1 NA19010.hp1 NA19054.hp1 NA19067.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0002	a0001c0001t0003g0044 a0001c0001t0003g0148 a0001c0001t0003g0154 others(10): Show a0001c0001t0003g0044 a0001c0001t0003g0148 a0001c0001t0003g0154 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0003g0167 a0001c0001t0003g0170 a0001c0001t0003g0174 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0188 a0001c0001t0006g0177 a0001c0002t0002g0005	13	326	0.0399	8	c.308 others(29): Show c.3088-20722_3088-20721insTCTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20015584	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02258.hp2 HG02451.hp1 others(12): Show HG00099.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02895.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0006 a0002c0002 others(1): Show a0001c0003 a0001c0006 a0002c0002 a0003c0004	a0001c0003t0007 a0001c0003t0012 a0001c0003t0017 others(7): Show a0001c0003t0007 a0001c0003t0012 a0001c0003t0017 a0001c0003t0018 a0001c0003t0048 a0001c0003t0049 a0001c0006t0061 a0002c0002t0001 a0003c0004t0029 a0003c0004t0076	a0001c0003t0007g0057 a0001c0003t0007g0059 a0001c0003t0007g0062 others(12): Show a0001c0003t0007g0057 a0001c0003t0007g0059 a0001c0003t0007g0062 a0001c0003t0012g0058 a0001c0003t0012g0063 a0001c0003t0012g0064 a0001c0003t0017g0060 a0001c0003t0018g0061 a0001c0003t0048g0056 a0001c0003t0049g0011 a0001c0006t0061g0009 a0002c0002t0001g0041 a0003c0004t0029g0191 a0003c0004t0029g0192 a0003c0004t0076g0190	15	250	0.0600	8	c.-22 others(25): Show c.-22+6171_-22+6178dupTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar

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