Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RPH3AL_chr17_207389_357807	255428	TACGTACT others(60): Show TACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTGTTCCATCCC TAGGAATGTGACTACCCA	T T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0050	1	133	0.0075	-67	c.439 others(84): Show c.439-8210_439-8144delTGGGTAGTCACATTCCTAGGGATGGAAC AGGACAGACGCCGTGCAGCTCCCCTCATAGGAAGTACGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255451	TGCACGGC others(60): Show TGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCAACGTA CTTCCTATGAGGGGAGCC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	133	0.0075	-67	c.439 others(84): Show c.439-8233_439-8167delGGCTCCCCTCATAGGAAGTACGTTGGGT AGTCACATTCCTAGGGATGGAACAGGACAGACGCCGTGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255484	TGTGACTA others(60): Show TGTGACTACCCAACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAAC	T T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	133	0.0075	-67	c.439 others(84): Show c.439-8266_439-8200delGTTCCTAGGGATGGAAAAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTACGTTGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255819	CGTGACTA others(60): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TGTTCCGTCCCTAGGAAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0103 a0001c0002t0029g0103	1	133	0.0075	-67	c.439 others(84): Show c.439-8601_439-8535delATTCCTAGGGACGGAACAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255927	CGTCTGTC others(60): Show CGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTA TGAGGGGAGCTGCACGGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	133	0.0075	-67	c.439 others(84): Show c.439-8709_439-8643delACCGTGCAGCTCCCCTCATAGGAAGTAC GTAGGGTAGTCATATTCCTAGGGATGGAAAAGGACAGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255954	ATGACTAC others(60): Show ATGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGTGTCTGTCCT TTTCCATCCCTAGGAACG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0122 a0001c0003t0030g0122	1	133	0.0075	-67	c.439 others(84): Show c.439-8736_439-8670delCGTTCCTAGGGATGGAAAAGGACAGACA CCGTGCAGCTCCCCTCATAGGAAGTACGTAGGGTAGTCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256143	ATCCCTAG others(60): Show ATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCTGCAC GGCGTCTGTCCTTTTCCG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp2 HG02886.hp2 others(1): Show HG01978.hp1 HG01978.hp2 HG02886.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0001 a0001c0001t0004 a0001c0001t0017	a0001c0001t0001g0047 a0001c0001t0004g0039 a0001c0001t0004g0087 others(1): Show a0001c0001t0001g0047 a0001c0001t0004g0039 a0001c0001t0004g0087 a0001c0001t0017g0070	4	133	0.0301	-67	c.439 others(84): Show c.439-8925_439-8859delCGGAAAAGGACAGACGCCGTGCAGCTCC CCTCATAGGAAGTACGTAGGGTAGTCATATTCCTAGGGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256154	TATGACTA others(60): Show TATGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCGTCCCTAGGAAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0094 a0001c0001t0009g0094	1	133	0.0075	-67	c.439 others(84): Show c.439-8936_439-8870delGTTCCTAGGGACGGAAAAGGACAGACGC CGTGCAGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256155	ATGACTAC others(60): Show ATGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCT TTTCCGTCCCTAGGAACG	A A	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19004.hp2 NA18951.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0028 a0001c0001t0012g0005 a0001c0001t0002g0028 a0001c0001t0012g0005	2	133	0.0150	-67	c.439 others(84): Show c.439-8937_439-8871delCGTTCCTAGGGACGGAAAAGGACAGACG CCGTGCAGCTCCCCTCATAGGAAGTACGTAGGGTAGTCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256473	TTTCCATC others(60): Show TTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0131 a0001c0001t0010g0131	1	133	0.0075	-67	c.439 others(84): Show c.439-9255_439-9189delCAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256556	TGTGACTA others(60): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TGTTCCATCCCTAGGAAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG02886.hp2 others(1): Show HG00140.hp2 HG00408.hp1 HG02886.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0017	a0001c0001t0001g0110 a0001c0001t0002g0028 a0001c0001t0016g0093 others(1): Show a0001c0001t0001g0110 a0001c0001t0002g0028 a0001c0001t0016g0093 a0001c0001t0017g0070	4	133	0.0301	-67	c.439 others(84): Show c.439-9338_439-9272delGTTCCTAGGGATGGAACAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256690	CGTGACTA others(60): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0122 a0001c0003t0030g0122	1	133	0.0075	-67	c.439 others(84): Show c.439-9472_439-9406delATTCCTAGGGATGGAAAAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256824	TGTGACTA others(60): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAAC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	133	0.0075	-67	c.439 others(84): Show c.439-9606_439-9540delGTTCCTAGGGATGGAAAAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256958	CGTGACTA others(60): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0099 a0001c0001t0017g0099	1	133	0.0075	-67	c.439 others(84): Show c.439-9740_439-9674delATTCCTAGGGATGGAAAAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257081	ATCCCTAG others(60): Show ATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAC GGCGTCTGTCCTTTTCCG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0103 a0001c0002t0029g0103	1	133	0.0075	-67	c.439 others(84): Show c.439-9863_439-9797delCGGAAAAGGACAGACGCCGTGCGGCTCC CCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257133	CGTCTGTC others(60): Show CGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTA TGAGGGGAGCCGCACGGT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0005 a0003c0012t0005	a0003c0012t0005g0020 a0003c0012t0005g0020	1	133	0.0075	-67	c.439 others(84): Show c.439-9915_439-9849delACCGTGCGGCTCCCCTCATAGGAAGTAC GTAGGGTAGTCACATTCCTAGGGACGGAAAAGGACAGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257494	CGTGACTA others(60): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCGTCCCTAGGAAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0099 a0001c0001t0017g0099	1	133	0.0075	-67	c.439 others(86): Show c.439-10276_439-10210delATTCCTAGGGACGGAAAAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257750	CGTCCCTA others(60): Show CGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGTGTCTGTCCTGTTCT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19074.hp2 NA18612.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0024 a0001c0001t0012g0006 a0001c0001t0001g0024 a0001c0001t0012g0006	2	133	0.0150	-67	c.439 others(86): Show c.439-10532_439-10466delAGAACAGGACAGACACCGTGCGGCTC CCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80600850	ATCTCCCG others(60): Show ATCTCCCGCCGCACGTGCCCTCTCTGCAGTGTAACTGTGAAACGCCTCCC AAGATGACCGCAGCAGCG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00621.hp1 others(51): Show HG00323.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01978.hp1 HG02015.hp1 HG02145.hp1 HG02165.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03834.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18963.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19066.hp1 NA19068.hp1 NA19082.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(42): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0018 a0001c0019 a0001c0022 a0001c0023 a0001c0024 a0001c0028 a0001c0029 a0001c0031 a0001c0034 a0001c0036 a0001c0037 a0001c0046 a0001c0050 a0001c0053 a0001c0058 a0001c0060 a0001c0066 a0001c0072 a0001c0074 a0001c0075 a0001c0083 a0001c0084 a0001c0085 a0001c0086 a0001c0087 a0001c0088 a0001c0089 a0001c0090 a0001c0091 a0001c0093 a0001c0094 a0001c0095 a0001c0096 a0001c0097	a0001c0002t0008 a0001c0002t0017 a0001c0003t0001 others(47): Show a0001c0002t0008 a0001c0002t0017 a0001c0003t0001 a0001c0004t0001 a0001c0005t0026 a0001c0007t0069 a0001c0008t0054 a0001c0009t0001 a0001c0009t0006 a0001c0009t0028 a0001c0011t0024 a0001c0011t0062 a0001c0012t0003 a0001c0013t0013 a0001c0015t0008 a0001c0018t0017 a0001c0019t0003 a0001c0022t0001 a0001c0023t0008 a0001c0024t0003 a0001c0028t0006 a0001c0029t0025 a0001c0031t0027 a0001c0034t0004 a0001c0036t0004 a0001c0037t0004 a0001c0037t0053 a0001c0046t0024 a0001c0050t0007 a0001c0053t0007 a0001c0058t0004 a0001c0060t0001 a0001c0066t0058 a0001c0072t0006 a0001c0074t0032 a0001c0075t0012 a0001c0083t0028 a0001c0084t0059 a0001c0085t0003 a0001c0086t0004 a0001c0087t0002 a0001c0088t0007 a0001c0089t0006 a0001c0090t0001 a0001c0091t0016 a0001c0093t0070 a0001c0094t0057 a0001c0095t0003 a0001c0096t0072 a0001c0097t0001	a0001c0002t0008g0131 a0001c0002t0017g0118 a0001c0003t0001g0154 others(51): Show a0001c0002t0008g0131 a0001c0002t0017g0118 a0001c0003t0001g0154 a0001c0004t0001g0152 a0001c0005t0026g0151 a0001c0007t0069g0128 a0001c0008t0054g0169 a0001c0009t0001g0125 a0001c0009t0006g0142 a0001c0009t0028g0113 a0001c0011t0024g0147 a0001c0011t0062g0114 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0013t0013g0062 a0001c0015t0008g0139 a0001c0015t0008g0146 a0001c0018t0017g0140 a0001c0019t0003g0135 a0001c0022t0001g0132 a0001c0022t0001g0170 a0001c0023t0008g0134 a0001c0024t0003g0129 a0001c0028t0006g0124 a0001c0029t0025g0153 a0001c0031t0027g0173 a0001c0034t0004g0133 a0001c0036t0004g0167 a0001c0036t0004g0168 a0001c0037t0004g0145 a0001c0037t0053g0138 a0001c0046t0024g0164 a0001c0050t0007g0148 a0001c0053t0007g0122 a0001c0058t0004g0156 a0001c0060t0001g0130 a0001c0066t0058g0126 a0001c0072t0006g0108 a0001c0074t0032g0061 a0001c0075t0012g0127 a0001c0083t0028g0158 a0001c0084t0059g0165 a0001c0085t0003g0162 a0001c0086t0004g0172 a0001c0087t0002g0051 a0001c0088t0007g0141 a0001c0089t0006g0159 a0001c0090t0001g0161 a0001c0091t0016g0166 a0001c0093t0070g0155 a0001c0094t0057g0136 a0001c0095t0003g0137 a0001c0096t0072g0171 a0001c0097t0001g0157	54	196	0.2755	-67	c.163 others(86): Show c.163-24790_163-24724delAGATGACCGCAGCAGCGTCTCCCGCC GCACGTGCCCTCTCTGCAGTGTAACTGTGAAACGCCTCCCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSU1_chr10_16585611_16822424	16592076	TTTTTATA others(60): Show TTTTTATATGCCCCAGTGGGTCCTGGTCTTGGGAGCTCAACTGGGAAGCC GAAAGGATACAGCAGAGA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01975.hp1 HG03471.hp1 HG01975.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0055 a0001c0001t0042 a0001c0001t0055	a0001c0001t0042g0046 a0001c0001t0055g0158 a0001c0001t0042g0046 a0001c0001t0055g0158	2	190	0.0105	-67	c.12 others(78): Show c.1251_*1317delTCTCTGCTGTATCCTTTCGGCTTCCCAGTTGAGC TCCCAAGACCAGGACCCACTGGGGCATATAAAA	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	9/9	1251		chr10	TogoVar
RUBCN_chr3_197663867_197741904	197695064	GCCAGACG others(60): Show GCCAGACGCAGCGGCTCACACCTGTGAATCCCAGCACTCTGGGAGGCCAA GCCCAGGAGTTCAAGACC	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA19240.hp1 HG03017.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0111 a0001c0001t0015g0112 a0001c0001t0015g0111 a0001c0001t0015g0112	2	186	0.0108	-67	c.147 others(84): Show c.1474-546_1474-480delGGTCTTGAACTCCTGGGCTTGGCCTCCC AGAGTGCTGGGATTCACAGGTGTGAGCCGCTGCGTCTGG	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	9/19			chr3	TogoVar
RUNX1_chr21_34782801_35054302	34926490	GCACATAT others(60): Show GCACATATTTATTATTGACTAAATCTGTCAGCATTTTGATCTACAACAAA CACAAATTGTGTTTTTCT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(59): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01496.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02615.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18747.hp1 NA18747.hp2 NA18966.hp1 NA18966.hp2 NA18978.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0005t0002 a0002c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0024 others(59): Show a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0135 a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0031 a0001c0001t0002g0041 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0071 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0106 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0169 a0001c0001t0004g0010 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0007g0038 a0001c0001t0008g0053 a0001c0001t0008g0100 a0001c0001t0010g0001 a0001c0001t0010g0002 a0001c0001t0014g0045 a0001c0001t0015g0158 a0001c0001t0017g0092 a0001c0001t0019g0150 a0001c0001t0020g0068 a0001c0001t0021g0081 a0001c0002t0003g0093 a0001c0002t0003g0142 a0001c0002t0003g0160 a0001c0002t0006g0036 a0001c0002t0006g0104 a0001c0002t0007g0057 a0001c0005t0002g0113 a0002c0008t0001g0032	62	170	0.3647	-67	c.59- others(84): Show c.59-33594_59-33528delAGAAAAACACAATTTGTGTTTGTTGTAG ATCAAAATGCTGACAGATTTAGTCAATAATAAATATGTG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SAMHD1_chr20_36885229_36956708	36941450	CCTCATAA others(60): Show CCTCATAATCCTGGATTGATTTATGAGCACCAGGTATGACTCAAGCATGA ATGAAATACATATGAAGG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0280 a0001c0001t0019g0280	1	340	0.0029	-67	c.276 others(82): Show c.276-406_276-340delCCTTCATATGTATTTCATTCATGCTTGAGT CATACCTGGTGCTCATAAATCAATCCAGGATTATGAG	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	2/15			chr20	TogoVar
SCG2_chr2_223591940_223607361	223606672	AGTGTCTA others(60): Show AGTGTCTACCCCGGCCCCTCAGGGCCTTGGCTACTTGTCCTTGCTCAGTC CTCACCTGCCTGCCTGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	-67	c.-44 others(78): Show c.-4469_-4403delGGCAGGCAGGCAGGTGAGGACTGAGCAAGGACAA GTAGCCAAGGCCCTGAGGGGCCGGGGTAGACAC	SCG2	ENSG00000171951.5	transcript	ENST00000305409.3	protein_coding		4312		chr2	TogoVar
SCGB1C2_chr17_132569_144067	141412	AGGACCTG others(60): Show AGGACCTGGGGGGGACCTTGGTGAGGGGAGCATGGTGAGGGGAACATGGG TGGGGAGCCTTGGTGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG02976.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	402	0.0050	-67	c.24 others(78): Show c.2471_*2537delGGACCTGGGGGGGACCTTGGTGAGGGGAGCATGG TGAGGGGAACATGGGTGGGGAGCCTTGGTGAGG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2346		chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1289823	CCCCGTGT others(60): Show CCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	290	0.0035	-67	c.166 others(84): Show c.1663-434_1663-368delCCCGTCCCGTGTCCGTCCCCCGAGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43205756	CCCACACA others(60): Show CCCACACACACACCACCCACTCACCACACACTCACCCCCACACACACCAC ACACCCACTCACCACTCA	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0036 a0001c0013t0036	a0001c0013t0036g0098 a0001c0013t0036g0098	1	280	0.0036	-67	c.281 others(86): Show c.2815-1674_2815-1608delTGAGTGGTGAGTGGGTGTGTGGTGTG TGTGGGGGTGAGTGTGTGGTGAGTGGGTGGTGTGTGTGTGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	21/21			chr22	TogoVar
SDC3_chr1_30864466_30913758	30894618	AGTGTGGG others(60): Show AGTGTGGGTGAGAGTGTGTGGGTGTGTGTGGGGTGTGTGTGGGTGAGTGT GTGTGGATGACTGTGAGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(217): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0011	a0001c0001 a0001c0005 a0001c0006 others(14): Show a0001c0001 a0001c0005 a0001c0006 a0001c0014 a0001c0016 a0001c0024 a0002c0002 a0002c0004 a0002c0025 a0002c0031 a0003c0003 a0003c0012 a0004c0011 a0005c0007 a0007c0015 a0009c0017 a0011c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0029 a0001c0001t0034 a0001c0001t0043 a0001c0001t0047 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0069 a0001c0001t0079 a0001c0001t0081 a0001c0001t0083 a0001c0005t0005 a0001c0005t0007 a0001c0005t0010 a0001c0005t0027 a0001c0005t0028 a0001c0005t0032 a0001c0005t0049 a0001c0005t0050 a0001c0006t0002 a0001c0006t0005 a0001c0006t0010 a0001c0006t0080 a0001c0014t0005 a0001c0014t0012 a0001c0016t0002 a0001c0016t0005 a0001c0024t0066 a0002c0002t0001 a0002c0002t0003 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0002t0073 a0002c0004t0001 a0002c0004t0003 a0002c0004t0023 a0002c0004t0074 a0002c0025t0001 a0002c0031t0001 a0003c0003t0004 a0003c0003t0009 a0003c0003t0014 a0003c0003t0019 a0003c0003t0024 a0003c0003t0026 a0003c0003t0030 a0003c0003t0041 a0003c0003t0076 a0003c0012t0004 a0003c0012t0018 a0004c0011t0002 a0005c0007t0004 a0005c0007t0040 a0007c0015t0001 a0009c0017t0004 a0011c0026t0001	a0001c0001t0001g0195 a0001c0001t0002g0007 a0001c0001t0002g0015 others(208): Show a0001c0001t0001g0195 a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0028 a0001c0001t0002g0082 a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0122 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0156 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0205 a0001c0001t0002g0233 a0001c0001t0002g0242 a0001c0001t0002g0248 a0001c0001t0002g0276 a0001c0001t0002g0290 a0001c0001t0002g0294 a0001c0001t0005g0326 a0001c0001t0005g0327 a0001c0001t0005g0342 a0001c0001t0005g0344 a0001c0001t0005g0345 a0001c0001t0005g0348 a0001c0001t0005g0349 a0001c0001t0005g0350 a0001c0001t0005g0351 a0001c0001t0005g0352 a0001c0001t0005g0354 a0001c0001t0005g0359 a0001c0001t0006g0047 a0001c0001t0006g0060 a0001c0001t0006g0214 a0001c0001t0006g0229 a0001c0001t0006g0236 a0001c0001t0007g0234 a0001c0001t0007g0297 a0001c0001t0008g0027 a0001c0001t0008g0077 a0001c0001t0008g0078 a0001c0001t0008g0113 a0001c0001t0008g0123 a0001c0001t0008g0125 a0001c0001t0008g0129 a0001c0001t0008g0130 a0001c0001t0008g0131 a0001c0001t0008g0132 a0001c0001t0008g0209 a0001c0001t0010g0221 a0001c0001t0011g0097 a0001c0001t0011g0277 a0001c0001t0012g0006 a0001c0001t0012g0083 a0001c0001t0012g0101 a0001c0001t0012g0140 a0001c0001t0013g0029 a0001c0001t0013g0162 a0001c0001t0013g0178 a0001c0001t0013g0274 a0001c0001t0015g0117 a0001c0001t0015g0145 a0001c0001t0020g0013 a0001c0001t0020g0213 a0001c0001t0029g0201 a0001c0001t0029g0202 a0001c0001t0034g0024 a0001c0001t0043g0076 a0001c0001t0047g0061 a0001c0001t0058g0286 a0001c0001t0059g0111 a0001c0001t0061g0070 a0001c0001t0069g0128 a0001c0001t0079g0343 a0001c0001t0081g0309 a0001c0001t0083g0325 a0001c0005t0005g0318 a0001c0005t0007g0011 a0001c0005t0007g0040 a0001c0005t0007g0223 a0001c0005t0007g0227 a0001c0005t0010g0150 a0001c0005t0010g0216 a0001c0005t0010g0225 a0001c0005t0027g0050 a0001c0005t0028g0224 a0001c0005t0028g0228 a0001c0005t0032g0018 a0001c0005t0049g0039 a0001c0005t0050g0235 a0001c0006t0002g0163 a0001c0006t0005g0017 a0001c0006t0005g0319 a0001c0006t0010g0148 a0001c0006t0080g0364 a0001c0014t0005g0302 a0001c0014t0012g0161 a0001c0016t0002g0142 a0001c0016t0005g0303 a0001c0024t0066g0152 a0002c0002t0001g0005 a0002c0002t0001g0030 a0002c0002t0001g0041 a0002c0002t0001g0063 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0102 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0120 a0002c0002t0001g0134 a0002c0002t0001g0141 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0158 a0002c0002t0001g0173 a0002c0002t0001g0180 a0002c0002t0001g0210 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0278 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0003g0306 a0002c0002t0003g0313 a0002c0002t0003g0316 a0002c0002t0003g0321 a0002c0002t0003g0322 a0002c0002t0003g0323 a0002c0002t0003g0324 a0002c0002t0003g0335 a0002c0002t0003g0340 a0002c0002t0003g0341 a0002c0002t0003g0346 a0002c0002t0003g0356 a0002c0002t0036g0157 a0002c0002t0037g0151 a0002c0002t0038g0096 a0002c0002t0073g0311 a0002c0004t0001g0035 a0002c0004t0001g0094 a0002c0004t0001g0098 a0002c0004t0001g0103 a0002c0004t0001g0118 a0002c0004t0001g0143 a0002c0004t0001g0144 a0002c0004t0001g0146 a0002c0004t0001g0159 a0002c0004t0001g0172 a0002c0004t0003g0305 a0002c0004t0003g0320 a0002c0004t0003g0347 a0002c0004t0003g0353 a0002c0004t0003g0361 a0002c0004t0003g0362 a0002c0004t0023g0104 a0002c0004t0023g0211 a0002c0004t0074g0312 a0002c0025t0001g0139 a0002c0031t0001g0285 a0003c0003t0004g0012 a0003c0003t0004g0059 a0003c0003t0004g0068 a0003c0003t0004g0084 a0003c0003t0004g0107 a0003c0003t0004g0155 a0003c0003t0004g0179 a0003c0003t0004g0185 a0003c0003t0004g0220 a0003c0003t0004g0222 a0003c0003t0004g0230 a0003c0003t0009g0071 a0003c0003t0009g0124 a0003c0003t0009g0206 a0003c0003t0009g0208 a0003c0003t0014g0008 a0003c0003t0019g0031 a0003c0003t0019g0135 a0003c0003t0019g0219 a0003c0003t0024g0127 a0003c0003t0026g0137 a0003c0003t0026g0138 a0003c0003t0030g0036 a0003c0003t0030g0186 a0003c0003t0041g0069 a0003c0003t0076g0355 a0003c0012t0004g0217 a0003c0012t0004g0226 a0003c0012t0018g0062 a0004c0011t0002g0100 a0004c0011t0002g0164 a0004c0011t0002g0215 a0005c0007t0004g0231 a0005c0007t0004g0245 a0005c0007t0004g0254 a0005c0007t0040g0240 a0007c0015t0001g0160 a0007c0015t0001g0170 a0009c0017t0004g0025 a0011c0026t0001g0291	220	386	0.5700	-67	c.138 others(86): Show c.138+13764_138+13830delACTCACAGTCATCCACACACACTCAC CCACACACACCCCACACACACCCACACACTCTCACCCACAC	SDC3	ENSG00000162512.16	transcript	ENST00000339394.7	protein_coding	1/4			chr1	TogoVar
SDK1_chr7_3296252_4274000	3976608	TGAGGCTG others(60): Show TGAGGCTGCGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGG TCCCGGGGCTGAGGCTGC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0028 a0028	a0028c0052 a0028c0052	a0028c0052t0032 a0028c0052t0032	a0028c0052t0032g0107 a0028c0052t0032g0107	1	116	0.0086	-67	c.199 others(86): Show c.1994+2072_1994+2138delGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCGAGGCTGC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977193	TGAGGCTG others(60): Show TGAGGCTGCGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGG TCCCGGGGCTGAGGCTGC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0002 a0001c0037t0002	a0001c0037t0002g0077 a0001c0037t0002g0077	1	116	0.0086	-67	c.199 others(86): Show c.1994+2657_1994+2723delGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCGAGGCTGC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEC14L3_chr22_30454229_30477017	30454880	ATTATATA others(60): Show ATTATATATTATATAATAGATATATAATATATTATTATATATTATATAAT AGATATATAATATATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 NA18942.hp1 NA18954.hp1 others(2): Show HG01099.hp1 NA18942.hp1 NA18954.hp1 NA19009.hp2 NA19043.hp1	a0003 a0010 a0003 a0010	a0003c0003 a0010c0012 a0003c0003 a0010c0012	a0003c0003t0002 a0003c0003t0010 a0010c0012t0002 a0003c0003t0002 a0003c0003t0010 a0010c0012t0002	a0003c0003t0002g0061 a0003c0003t0002g0112 a0003c0003t0002g0113 others(2): Show a0003c0003t0002g0061 a0003c0003t0002g0112 a0003c0003t0002g0113 a0003c0003t0010g0110 a0010c0012t0002g0102	5	454	0.0110	-67	c.50 others(78): Show c.5074_*5140delATAATATATTATATATCTATTATATAATATATAA TAATATATTATATATCTATTATATAATATATAA	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4348		chr22	TogoVar
SEC14L3_chr22_30454229_30477017	30454888	TTATATAA others(60): Show TTATATAATAGATATATAATATATTATTATATATTATATAATAGATATAT AATATATTATTATATATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0016 a0003c0003t0004g0016	1	454	0.0022	-67	c.50 others(78): Show c.5066_*5132delGATATATAATAATATATTATATATCTATTATATA ATATATAATAATATATTATATATCTATTATATA	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4340		chr22	TogoVar
SENP6_chr6_75596880_75723281	75670891	AAATGAGT others(60): Show AAATGAGTTAGAAAACCTTCCAATATGTTATTGTTTATTATCATGCCAGC TTCGTGCATGAAACTTTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	362	0.0028	-67	c.139 others(84): Show c.1392+201_1392+267delTTGTTTATTATCATGCCAGCTTCGTGCA TGAAACTTTCAATGAGTTAGAAAACCTTCCAATATGTTA	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SFSWAP_chr12_131706090_131804738	131801509	CTCGTGTT others(60): Show CTCGTGTTTGCCGTGGCTCGTGTTTGCCATGGCCCGTGTTTGCCGTGGCC CGTGTTTGCTGTGGCTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00639.hp2 others(19): Show HG00099.hp2 HG00140.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01517.hp2 HG01884.hp1 HG02293.hp2 HG04199.hp1 HG04204.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0025	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0002c0025t0004	a0001c0001t0001g0265 a0001c0002t0001g0283 a0001c0002t0001g0285 others(19): Show a0001c0001t0001g0265 a0001c0002t0001g0283 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0007t0001g0284 a0001c0007t0001g0296 a0002c0025t0004g0042	22	318	0.0692	-67	c.20 others(78): Show c.2022_*2088delTCGTGTTTGCCGTGGCTCGTGTTTGCCATGGCCC GTGTTTGCCGTGGCCCGTGTTTGCTGTGGCTGT	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding		1772		chr12	TogoVar
SH3KBP1_chrX_19528977_19892600	19554006	TAATATAT others(60): Show TAATATATAATATATATTAAAATATAATATATAATATATATTAAAATATA TTATATATATTAAAATAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01975.hp1 HG02622.hp1 others(5): Show HG01243.hp1 HG01975.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG03225.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0137	8	204	0.0392	-67	c.138 others(86): Show c.1385-3990_1385-3924delGTATTTTAATATATATAATATATTTT AATATATATTATATATTATATTTTAATATATATTATATATT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SHISA7_chr19_55423740_55448300	55441099	TCCATTTA others(60): Show TCCATTTACCCAGTGATGCGGACCTCAAACATTAAATCACCTTGACTCTT CTTTCCCCCACCTTCATA	T T	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	372	0.0027	-67	c.672 others(82): Show c.672-401_672-335delTATGAAGGTGGGGGAAAGAAGAGTCAAGGT GATTTAATGTTTGAGGTCCGCATCACTGGGTAAATGG	SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding	1/3			chr19	TogoVar
SLC17A7_chr19_49424401_49446527	49444129	TCTTTCTC others(60): Show TCTTTCTCTGTCTTCCTTCCTTTCCCCTTCCTCCTTCCTTTTTCTTTTTT TCTTTCCTTCCTTCATTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(213): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18998.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19067.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0003t0001 a0001c0004t0001 a0002c0002t0001 a0004c0005t0018	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(109): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0061 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0114 a0001c0001t0002g0135 a0001c0001t0002g0172 a0001c0001t0002g0183 a0001c0001t0002g0191 a0001c0001t0003g0054 a0001c0001t0003g0077 a0001c0001t0003g0162 a0001c0001t0003g0167 a0001c0001t0006g0189 a0001c0001t0006g0193 a0001c0001t0008g0086 a0001c0001t0009g0088 a0001c0001t0011g0060 a0001c0001t0012g0100 a0001c0001t0013g0178 a0001c0001t0015g0099 a0001c0001t0016g0174 a0001c0001t0017g0177 a0001c0003t0001g0036 a0001c0003t0001g0085 a0001c0004t0001g0188 a0002c0002t0001g0111 a0004c0005t0018g0089	216	414	0.5217	-67	c.-28 others(78): Show c.-2817_-2751delGAATGAAGGAAGGAAAGAAAAAAAGAAAAAGGAA GGAGGAAGGGGAAAGGAAGGAAGACAGAGAAAG	SLC17A7	ENSG00000104888.10	transcript	ENST00000221485.8	protein_coding		2603		chr19	TogoVar
SLC22A18_chr11_2897278_2930246	2912586	GGGCAGCA others(60): Show GGGCAGCAGGTGGGAGGAGGAAGTGGACTTGGCACCCACAGGCTGCGGGG GCGGGCACTGGTATAACT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02056.hp2 HG02135.hp2 HG00544.hp1 HG02056.hp2 HG02135.hp2	a0006 a0014 a0006 a0014	a0006c0010 a0014c0036 a0006c0010 a0014c0036	a0006c0010t0001 a0014c0036t0001 a0006c0010t0001 a0014c0036t0001	a0006c0010t0001g0119 a0006c0010t0001g0120 a0014c0036t0001g0118 a0006c0010t0001g0119 a0006c0010t0001g0120 a0014c0036t0001g0118	3	405	0.0074	-67	c.536 others(84): Show c.536+2879_536+2945delCAGCAGGTGGGAGGAGGAAGTGGACTTG GCACCCACAGGCTGCGGGGGCGGGCACTGGTATAACTGG	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC28A1_chr15_84879662_84950798	84928561	TCTTTCTT others(60): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTT CTTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02615.hp2 HG01255.hp1 HG02615.hp2	a0001 a0010 a0001 a0010	a0001c0021 a0010c0018 a0001c0021 a0010c0018	a0001c0021t0001 a0010c0018t0001 a0001c0021t0001 a0010c0018t0001	a0001c0021t0001g0263 a0010c0018t0001g0045 a0001c0021t0001g0263 a0010c0018t0001g0045	2	396	0.0051	-67	c.108 others(86): Show c.1083+4452_1084-4517delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCTTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18			chr15	TogoVar
SLC45A4_chr8_141202174_141313288	141203297	GAGAGAGA others(60): Show GAGAGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGACCATGGAGAGAGA GAGAGAGAGAGAGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0117 a0002c0001t0004g0117	1	188	0.0053	-67	c.82 others(78): Show c.8208_*8274delTCTCCCTCTCTCTCTCTCTCTCTCTCCATGGTCT CCCTCTCCCTCTCTCCACGGTCTCTCTCTCTCT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3876		chr8	TogoVar
SMYD3_chr1_245744347_246512279	245991751	CCAGAAAC others(60): Show CCAGAAACGGCCTGCCGTCATTTCTATCATATTCTATTGGCCACACACAC CAACTTACAACTGAACCT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0102 a0002c0003t0002g0102	1	150	0.0067	-67	c.532 others(86): Show c.532-61881_532-61815delAGGTTCAGTTGTAAGTTGGTGTGTGT GGCCAATAGAATATGATAGAAATGACGGCAGGCCGTTTCTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNPH_chr20_1261294_1314327	1301629	ATCTAATT others(60): Show ATCTAATTTCATAAATATTTCTATCACCTCAAAATAAACCCCATTCCCAT TAGCAATCACCGCCAATT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02080.hp1 HG02083.hp2 others(4): Show HG01243.hp1 HG02080.hp1 HG02083.hp2 HG02258.hp1 HG02572.hp2 HG02602.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0016 a0001c0002t0040 a0001c0002t0001 a0001c0002t0016 a0001c0002t0040	a0001c0002t0001g0087 a0001c0002t0001g0107 a0001c0002t0001g0117 others(4): Show a0001c0002t0001g0087 a0001c0002t0001g0107 a0001c0002t0001g0117 a0001c0002t0001g0120 a0001c0002t0001g0272 a0001c0002t0016g0036 a0001c0002t0040g0034	7	350	0.0200	-67	c.440 others(82): Show c.440+930_440+996delAAATATTTCTATCACCTCAAAATAAACCCC ATTCCCATTAGCAATCACCGCCAATTTCTAATTTCAT	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNPH_chr20_1261294_1314327	1301641	AAATATTT others(60): Show AAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCG CCAATTTCTAATTTCATC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG02451.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0011 a0001c0008t0011 a0001c0001t0011 a0001c0008t0011	a0001c0001t0011g0033 a0001c0008t0011g0025 a0001c0001t0011g0033 a0001c0008t0011g0025	2	350	0.0057	-67	c.440 others(84): Show c.440+1385_440+1451delATTTCTAATTTCATCAATATTTCTATCA CCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCA	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNX9_chr6_157818246_157950077	157826904	TATAATAT others(60): Show TATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATTAT AGTTTATATAATATATAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0259 a0001c0001t0011g0259	1	302	0.0033	-67	c.12+ others(82): Show c.12+3462_12+3528delATATATAAAATATATTATAGTTTATATAAT ATATAAAATATATTATAGTTTATATAATATATACATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827447	AGTTTATA others(60): Show AGTTTATATAATATATAAACTTATAGTTTATATAATATATAAACTTATAG TTTATATAATATATAAAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02145.hp1 others(4): Show HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02717.hp2 HG02809.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0251 a0001c0003t0003g0252 a0001c0003t0003g0253 others(4): Show a0001c0003t0003g0251 a0001c0003t0003g0252 a0001c0003t0003g0253 a0001c0003t0003g0254 a0001c0003t0003g0255 a0001c0003t0003g0256 a0001c0003t0003g0299	7	302	0.0232	-67	c.12+ others(82): Show c.12+4002_12+4068delGTTTATATAATATATAAACTTATAGTTTAT ATAATATATAAACTTATAGTTTATATAATATATAAAC	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SORCS3_chr10_104636290_105270242	105088449	AGAAGTAA others(60): Show AGAAGTAATAATTTTATTTTAACCAATAAAAATCATTTTAGTTTTTCTAA AACATACCACTTGCTGCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00741.hp2 others(10): Show HG00140.hp1 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01123.hp2 HG01192.hp1 HG01257.hp2 HG01515.hp2 HG01517.hp2 HG02922.hp1 HG04115.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0009 a0001c0001 a0001c0002 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0004c0009t0002	a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0042 others(10): Show a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0004g0048 a0001c0002t0003g0060 a0004c0009t0002g0096 a0004c0009t0002g0097	13	134	0.0970	-67	c.102 others(86): Show c.1029-1262_1029-1196delTGCCGAAGTAATAATTTTATTTTAAC CAATAAAAATCATTTTAGTTTTTCTAAAACATACCACTTGC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOX11_chr2_5687384_5706385	5706164	GGGAGACT others(60): Show GGGAGACTGGGGTAGAGGAACAGGTAGGCTGGGGTGGAGGAGCTGGGAGG CCAGGGTGGAGGAGTTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00558.hp2 others(54): Show HG00323.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01928.hp2 HG01934.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02083.hp1 HG02155.hp2 HG02280.hp2 HG02293.hp2 HG02572.hp1 HG02735.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03209.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03831.hp2 HG06807.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18947.hp1 NA18951.hp2 NA18955.hp2 NA18957.hp2 NA18966.hp2 NA18974.hp2 NA18978.hp1 NA18984.hp2 NA18995.hp1 NA19002.hp1 NA19054.hp2 NA19056.hp2 NA19059.hp2 NA19065.hp2 NA19068.hp2 NA19083.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0024 a0001c0001t0026 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0045 a0001c0001t0049 a0001c0001t0054 a0001c0001t0084 a0001c0001t0119 a0001c0001t0125 a0001c0001t0126 a0001c0001t0152 a0001c0001t0153 a0001c0001t0157 a0001c0001t0159 a0001c0001t0160 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0188	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(23): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0024g0000 a0001c0001t0026g0000 a0001c0001t0034g0000 a0001c0001t0035g0000 a0001c0001t0036g0000 a0001c0001t0045g0000 a0001c0001t0049g0000 a0001c0001t0054g0000 a0001c0001t0084g0000 a0001c0001t0119g0000 a0001c0001t0125g0000 a0001c0001t0126g0000 a0001c0001t0152g0000 a0001c0001t0153g0000 a0001c0001t0157g0000 a0001c0001t0159g0000 a0001c0001t0160g0000 a0001c0001t0169g0000 a0001c0001t0170g0000 a0001c0001t0171g0000 a0001c0001t0172g0000 a0001c0001t0188g0000	57	434	0.1313	-67	c.12 others(80): Show c.12118_*12184delGGAGACTGGGGTAGAGGAACAGGTAGGCTGGG GTGGAGGAGCTGGGAGGCCAGGGTGGAGGAGTTGA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4780		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706169	ACTGGGGT others(60): Show ACTGGGGTAGAGGAACAGGTAGGCTGGGGTGGAGGAGCTGGGAGGCCAGG GTGGAGGAGTTGAGGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0184 a0001c0001t0184	a0001c0001t0184g0000 a0001c0001t0184g0000	1	434	0.0023	-67	c.12 others(80): Show c.12123_*12189delCTGGGGTAGAGGAACAGGTAGGCTGGGGTGGA GGAGCTGGGAGGCCAGGGTGGAGGAGTTGAGGAGG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4785		chr2	TogoVar
SPINK4_chr9_33235167_33253567	33252045	CGGGAGAA others(60): Show CGGGAGAAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGAAGAAGGGGTG CTCTCTCCCCTTCTCACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp2 HG01258.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	378	0.0053	-67	c.35 others(78): Show c.3575_*3641delGGGAGAAGAAGGGGTGCTCTCTCCCCTTCTCACG GGAGAAGAAGGGGTGCTCTCTCCCCTTCTCACG	SPINK4	ENSG00000122711.9	transcript	ENST00000379721.4	protein_coding		3479		chr9	TogoVar
SPON1_chr11_13957723_14273133	14160733	ATATTTAA others(60): Show ATATTTAATTTATATATATTTATATATATTTATATATTTATATATATTTT TATATATATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01074.hp1 others(58): Show HG00280.hp1 HG00642.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01243.hp2 HG01257.hp2 HG01496.hp1 HG01516.hp2 HG01952.hp1 HG02040.hp1 HG02071.hp1 HG02135.hp1 HG02165.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03831.hp1 HG04184.hp2 NA18946.hp1 NA18947.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18961.hp1 NA18970.hp1 NA18970.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0018 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0012 a0001c0003t0016 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0065 others(58): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0065 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0153 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0003g0184 a0001c0001t0003g0202 a0001c0001t0003g0206 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0209 a0001c0001t0005g0119 a0001c0001t0005g0122 a0001c0001t0005g0146 a0001c0001t0006g0012 a0001c0001t0007g0194 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0048 a0001c0002t0001g0064 a0001c0002t0001g0144 a0001c0002t0003g0197 a0001c0002t0009g0161 a0001c0002t0009g0172 a0001c0002t0018g0207 a0001c0003t0001g0069 a0001c0003t0001g0079 a0001c0003t0001g0109 a0001c0003t0001g0175 a0001c0003t0001g0177 a0001c0003t0002g0066 a0001c0003t0002g0090 a0001c0003t0002g0098 a0001c0003t0002g0100 a0001c0003t0002g0103 a0001c0003t0005g0089 a0001c0003t0012g0116 a0001c0003t0016g0073 a0001c0004t0001g0076 a0001c0004t0001g0081 a0001c0004t0001g0110 a0001c0004t0001g0117 a0001c0004t0002g0074 a0001c0004t0002g0075	61	224	0.2723	-67	c.825 others(86): Show c.825+25167_825+25233delATTTAATTTATATATATTTATATATA TTTATATATTTATATATATTTTTATATATATTTATATATTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar

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